Mosaic down syndrome – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ Tue, 24 May 2022 01:46:18 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 https://www.novascotiadownsyndromesociety.com/wp-content/uploads/2021/07/icon-2021-07-30T230350.091.png Mosaic down syndrome – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ 32 32 Proteus syndrome in a young adolescent https://www.novascotiadownsyndromesociety.com/proteus-syndrome-in-a-young-adolescent/ Mon, 23 May 2022 18:44:27 +0000 https://www.novascotiadownsyndromesociety.com/proteus-syndrome-in-a-young-adolescent/ MEMBERSHIPS:1Medical Student, University College Dublin, Dublin, Ireland2Resident Physician, Department of Psychiatry, University of Chicago, Chicago, IL3Emeritus Professor, McGovern Medical School, Houston, TX QUOTE:Matthews M, Rosas L, Mazur L. Proteus syndrome in a young adolescent. Consultant.Published online May 23, 2022. doi:10.25270/con.2022.03.00004 Received October 22, 2021; accepted on November 8, 2021. DISCLOSURES:The authors report no relevant financial […]]]>

MEMBERSHIPS:
1Medical Student, University College Dublin, Dublin, Ireland
2Resident Physician, Department of Psychiatry, University of Chicago, Chicago, IL
3Emeritus Professor, McGovern Medical School, Houston, TX

QUOTE:
Matthews M, Rosas L, Mazur L. Proteus syndrome in a young adolescent. Consultant.
Published online May 23, 2022. doi:10.25270/con.2022.03.00004

Received October 22, 2021; accepted on November 8, 2021.

DISCLOSURES:
The authors report no relevant financial relationships. The authors report that informed consent was
obtained for the publication of the images used here.

CORRESPONDENCE:
Miriam Matthews, University College Dublin, Belfield, Dublin 4, Ireland (mimymatthews@gmail.com)


ABSTRACT:
Proteus syndrome (PS) is a rare, progressive and asymmetric overgrowth syndrome that manifests with symptoms of varying severity. This case report presents a 13-year-old boy with progressive left leg enlargement that was initially mistaken for filariasis. PS most commonly affects the limbs and occasionally presents with hamartomas and vascular malformations. Due to the progressive nature and risk of complications, such as limb length discrepancy, deep vein thrombosis, skin ulcerations and malignant neoplasms, PS should be considered in a differential diagnosis with other overgrowth syndromes .

Keywords: Proteus syndrome, overgrowth syndrome, hamartomas, vascular malformation

During a medical mission in Tumbes, Peru, a 13-year-old boy presented with an enlarged left leg. The father said his son’s leg had been growing steadily since infancy. He said many treatments for parasitic diseases had not helped. Family history was negative for anyone with similar results.

The boy’s physical examination was notable for a body mass index over 95% for his age, an enlargement of his left leg with areas of cratered scarring below the knee and a discrepancy in leg length. (Figures 1 and 2).

Figure 2

No other part of the body was affected. He had no macrocephaly, ocular abnormalities, hemangiomas, nevi or scoliosis.

Differential diagnoses included hemihyperplasia, Proteus syndrome (PS) and Klippel-Trenaunay syndrome (KTS) (Table). Due to the gradual widening of the leg and the absence of vascular markings, PS was considered the most likely diagnosis.1

Table

Discussion
A rare genetic disorder, PS manifests as a progressive and asymmetrical proliferation of the limbs with occasional hamartomas and vascular malformations.1.2 Its prevalence is estimated between 1:1,000,000 and 1:10,000,000.1 He was named by Hans-Rudolf Wiedemann in 1983 after the shape-shifting Greek god Proteus, and Joseph Merrick (the so-called “Elephant Man”) is believed to have had PS.3 Patients with PS usually have no abnormalities at birth but develop asymmetric and irregular proliferation between 6 and 18 months.1 Proliferation continues until adolescence, then levels off.1.4 The limbs are most often affected but the location and severity of the deformities may vary.5

PS is thought to be caused by somatic mosaicism in the AKT1 gene on chromosome 14.1.2 It belongs to a class of genes known as oncogenes and provides instructions for making AKT1 kinase. The protein is found in various cells in the body and plays a vital role in signaling pathways. Non-mosaic mutations are thought to be lethal, but a duplication of the AKT1 gene responsible for PS has been reported.1.6 As MS is not genetically inherited, offspring are not at increased risk and prenatal testing is not required.1 However, few patients with PS have reproduced.1 Diagnosis is usually based on clinical findings, but can be confirmed by blood tests. AKT1 mutations.1 However, because mosaicism can be limited to certain tissues, testing is difficult.6 Unfortunately, imaging and testing for our patient was not possible due to remoteness.

Complications vary in severity and may include dermatological malformations, central nervous system manifestations, pulmonary embolisms, skeletal proliferation, and deep vein thrombosis (DVT).1 Although patients may have cutaneous capillary malformations, venous and arterial malformations are less common.5

A pathognomonic sign is the presence of cerebriform connective tissue nevi (CCTN) which most often appear on the palms and soles of the feet.2.5 The lesions were not observed at birth but develop slowly during adolescence.5 This pattern of brain grooves thickens over time and complicates hygiene in the affected areas.2.5 Their presence also distinguishes PS from KTS.4 Linear epidermal nevi are also a common manifestation and darken over time.1.5

Central nervous system manifestations occur in 40% of patients, mental retardation in 30% and epilepsy in 10%.
Hydrocephalus, hemimegalencephaly, Dandy-Walker malformations, polymicrogyria, heterotopia and various cysts have also been reported.4 Benign and malignant neoplasms such as ovarian cystadenomas, parotid adenomas, mesotheliomas, and proliferation of the spleen, liver, and lungs may also occur.1.2 Facial phenotypes may include dolichocephaly, downward sloping palpebral fissures, low nasal bridge, enlarged nostrils, long face, and open mouth at rest.4.5 Craniofacial abnormalities such as hyperostosis and unilateral condylar hyperplasia also occur.4 The bony growths can calcify and further deform and restrict movement at the affected joints.1.5 Leg length discrepancies of 20cm, scoliotic curves over 90 degrees and delayed bone age are also possible.1,5,7 Dysregulation of adipose tissue can lead to both lipoatrophy and proliferation.2 Lipoatrophy usually occurs in the chest while fatty proliferation occurs in the abdomen and extremities.5

Treatment options address complications as they arise. Guidelines recommend skeletal study, chest CT scans, and abdominal magnetic resonance imaging to identify lung lesions and abdominal lipomas.4 Several orthopedic procedures may be required for skeletal proliferation. Reduction osteotomies (selective removal of bone tissue to reduce overgrowth) and epiphysiodesis (removal of the epiphyses to arrest growth) may be beneficial. Shoe lifts and custom-made shoes can help with minor leg length discrepancies. Spinal fusion for spinal proliferation and surgical correction of
scoliosis can stop kyphoscoliosis and prevent lung damage.1.4

If CCTN develops, a dermatologist can help manage hygiene and pressure ulcers.1 Pedorthic (podiatric services) and surgical intervention to remove the plantar CCTN may be required. 1 Surgical treatment of fatty proliferation can be difficult due to diffuse proliferation.1

Patients of all ages are at high risk for pulmonary embolism and DVT, especially during surgical procedures. Therefore, perioperative anticoagulant prophylaxis is recommended.5 Procoagulants or drugs that promote growth (such as steroids) should be avoided due to the risk of DVT.

When possible, consultations in genetics, pediatrics, dermatology and orthopedics are useful. Patients and caregivers may feel isolated due to the progressive disfigurement, so all may benefit from a referral to behavioral health care providers and family support groups.4 Life expectancy for PS depends on the severity of the complications but varies between 9 months and 29 years.2 The father was informed of the possible complications and given a guarded prognosis and life expectancy for a patient with MS.

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CATALYST BIOSCIENCES, INC. Management’s Discussion and Analysis of Financial Condition and Results of Operations (Form 10-Q) https://www.novascotiadownsyndromesociety.com/catalyst-biosciences-inc-managements-discussion-and-analysis-of-financial-condition-and-results-of-operations-form-10-q/ Mon, 09 May 2022 17:03:05 +0000 https://www.novascotiadownsyndromesociety.com/catalyst-biosciences-inc-managements-discussion-and-analysis-of-financial-condition-and-results-of-operations-form-10-q/ Unless otherwise indicated, in this Quarterly Report on Form 10-Q, references to "Catalyst," "we," "us," "our" or the "Company" mean Catalyst Biosciences, Inc. and our subsidiary. The following discussion and analysis of our financial condition and results of operations should be read in conjunction with the unaudited condensed consolidated financial statements and related notes that […]]]>
Unless otherwise indicated, in this Quarterly Report on Form 10-Q, references to
"Catalyst," "we," "us," "our" or the "Company" mean Catalyst Biosciences, Inc.
and our subsidiary. The following discussion and analysis of our financial
condition and results of operations should be read in conjunction with the
unaudited condensed consolidated financial statements and related notes that
appear in this Quarterly Report on Form 10-Q (this "Report") and with the
audited consolidated financial statements and related notes that are included as
part of our Annual Report on Form 10-K for the year ended December 31, 2021
("Annual Report").

In addition to historical information, this Report contains forward-looking
statements within the meaning of Section 27A of the Securities Act of 1933, as
amended, and Section 21E of the Securities Exchange Act of 1934, as amended
("the Exchange Act"). Forward-looking statements are identified by words such as
"believe," "will," "may," "estimate," "continue," "anticipate," "intend,"
"should," "plan," "expect," "predict," "could," "potentially" or the negative of
these terms or similar expressions. You should read these statements carefully
because they discuss future expectations, contain projections of future results
of operations or financial condition, or state other "forward-looking"
information. These statements relate to our future plans, objectives,
expectations, intentions and financial performance and the assumptions that
underlie these statements. For example, forward-looking statements include any
statements regarding the strategies, prospects, plans, expectations or
objectives of management for future operations, the progress, scope or duration
of the development of product candidates or programs, clinical trial plans,
timelines and potential results, the benefits that may be derived from product
candidates or the commercial or market opportunity in any target indication, our
ability to protect intellectual property rights, our anticipated operations,
financial position, revenues, costs or expenses, statements regarding future
economic conditions or performance, statements of belief and any statement of
assumptions underlying any of the foregoing. These forward-looking statements
are subject to certain risks and uncertainties that could cause actual results
to differ materially from those anticipated in the forward-looking statements.
Factors that might cause such a difference include, but are not limited to,
those discussed in this report in Part II, Item 1A - "Risk Factors," elsewhere
in this Report and in Part I - Item 1A - "Risk Factors" in the Annual Report.
Forward-looking statements are based on our management's beliefs and assumptions
and on information currently available to our management. These statements, like
all statements in this Report, speak only as of their date, and we undertake no
obligation to update or revise these statements in light of future developments.
We caution investors that our business and financial performance are subject to
substantial risks and uncertainties.

Insight


We are a biopharmaceutical company with expertise in protease engineering and
several protease assets that may address unmet medical needs in disorders of the
complement or coagulation systems. Proteases are an important class of enzymes,
which are key natural regulators of many biological processes, including the
complement system. Our complement pipeline includes the development candidates
CB 4332 and CB 2782-PEG. CB 4332 is a wholly owned, first-in-class improved
albumin-fused Complement Factor I ("CFI") molecule intended for prophylactic
subcutaneously ("SQ") or intravitreal ("IVT") administration in individuals with
an imbalance in complement homeostasis or a CFI deficiency. CB 2782-PEG is a
potential best-in-class component 3 ("C3") degrader product candidate in
preclinical development for the treatment of dry age-related macular
degeneration ("AMD"). We have proteases from our ProTUNE™ C3b/C4b degrader and
ImmunoTUNE™ C3a/C5a degrader platforms designed to target specific disorders of
the complement or inflammatory pathways. These programs all target diseases
caused by deficient regulation of the complement system and inflammation. We
have also used our protein engineering platform to develop potential therapies
for coagulation disorders, including marzeptacog alfa (activated) ("MarzAA"), a
SQ administered next-generation engineered coagulation Factor VIIa ("FVIIa") for
the treatment of episodic bleeding and prophylaxis in subjects with rare
bleeding disorders, and dalcinonacog alfa ("DalcA"), a next-generation SQ FIX,
both of which has shown sustained efficacy and safety in mid-stage clinical
trials. As of March this year we ceased the development of our protease programs
and are focused on the monetization of our assets.

The product candidates generated by our protease engineering platform are
designed to have improved functional properties such as longer half-life,
improved specificity and targeting, higher potency, and increased
bioavailability. These characteristics potentially allow for improved safety and
efficacy for SQ administration of recombinant complement regulators, or less
frequently dosed intravitreal products than current therapeutics in development.

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The following table summarizes our current programs with their latest stage of development.


                               [[Image Removed]]


In February 2022, we announced that we had engaged Perella Weinberg Partners as
a financial advisor to assist us in exploring strategic alternatives to monetize
our assets.

Program Status

Complement

Our protease programs are designed to take advantage of nature's natural
complement regulators that restore complement homeostasis and potentially treat
a variety of complement-mediated disorders. We have several protease programs
currently in preclinical discovery or early non-clinical development. These
programs target diseases caused by aberrant regulation of the complement system
including both ocular programs, specifically for dry AMD, and systemic
complement disorders, all of which are wholly owned by Catalyst.

The complement system is an enzyme-based innate immune defense system with the
primary role of protecting the body from pathogens. The system is naturally
regulated by proteases which is the basis for our approach to addressing
complement-driven diseases. Deficient or excessive activation of the complement
system may lead to severe disorders, including microthrombotic, autoimmune
and/or immune-complex diseases, severe infectious diseases, and degenerative
ophthalmic or neurologic diseases affecting a variety of tissues and organ
systems. The absence of regulation can cause the complement system to become
self-destructive or not provide the necessary protection when needed. The
protease therapeutic candidates generated by our platforms are designed to
correct or restore the missing balance in the complement system that drives
several diseases.

Proteases are uniquely poised to regulate key biological functions such as the
complement system, either by promoting or limiting the cascade of events that
leads to eventual clearing of foreign and damaged proteins, inflammation, and
formation of the membrane attack complex, which is deposited on the surface of
cells and drives their destruction. Compared with antibodies and small molecule
inhibitors that generally require a sustained excess of therapeutic compound
over that of the target, Catalyst's protease therapeutic candidates are based on
natural regulatory proteins that are capable of rapidly engaging and modulating
large quantities of target molecules, as each protease molecule can degrade many
target molecules over their effective lifetime. This means that our proteases
are ideal for regulating high abundancy targets such as complement proteins in a
way antibodies and small molecule inhibitors cannot.

CB 2782-PEG is an engineered pegylated C3 degrader previously licensed to Biogen
that we designed with a best-in-class anti-C3 profile for geographic atrophy
("GA") in dry AMD. Dry AMD is an ocular disease that leads to vision loss and
blindness for which there is currently no approved therapy. CB 2782-PEG degrades
C3 in the eye reducing the steady state level of C3 activity. It is expected

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that maintaining low C3 levels in the eye can significantly slow disease
progression and vision loss in patients with dry AMD. We have demonstrated in
preclinical non-human primate models that we have the potential to reduce C3
levels in humans based on modeling studies for up to 3 months with a single
intravitreal injection. In September 2021, Apellis released the results of the
DERBY and OAKS phase 3 trials for GA secondary to dry AMD, showing that
once-monthly pegcetacoplan, a pegylated C3 targeted inhibitor, was safe and
efficacious, meeting its primary endpoint in one trial and narrowly missing the
primary endpoint in a second trial for reducing GA lesion growth over a 12-month
period. Further subpopulation analyses demonstrated a greater effect of reducing
GA lesion growth in those subjects with extrafoveal lesions at baseline. CB
2782-PEG provides a differentiated mechanism of action by degrading both C3 and
one of its byproducts, C3a potentially offering not only less frequent dosing
but a more efficacious mechanism than pegcetacoplan or other complement
inhibitors in development for GA. In March 2022, Biogen terminated the license
agreement and returned full rights to CB 2782-PEG.

CB 4332 is an engineered albumin-fused version of the CFI protease with an
extended half-life that can be dosed subcutaneously or intravitreally in
individuals who would benefit from enhanced regulation of complement. CFI is the
central regulator of the complement system and CB 4332 has the potential to
address several mechanistically related diseases driven by complement imbalance
such as: Lupus Nephritis ("LN"), Systemic Lupus Erythematosus ("SLE"), warm
Autoimmune Hemolytic Anemia ("wAIHA"), atypical Hemolytic Uremic Syndrome
("aHUS"), C3 Glomerulonephritis ("C3G"), and Immune Complex
Membranoproliferative Glomerulonephritis ("IC-MPGN"), dry AMD and complete CFI
deficiency ("CFID"), a rare immunodeficiency primarily affecting children. These
are severe, chronic, life-threatening diseases that result in a significantly
decreased quality of life for the afflicted individual.

CB 4332 can be dosed subcutaneously for systemic diseases and has the potential
for infrequent IVT injections for ophthalmic indications. As a key complement
regulator, CFI has the potential to be used in several complement dysregulated
diseases (e.g., those associated with hyperactive complement) in which
additional upstream regulation may prove more effective than inhibiting specific
downstream targets such as C3 or C5, where many of current molecules in
development are targeted.

Individuals with complete or significant absence of endogenous CFI may present
with a variety of disease manifestations, such as recurrent invasive infections
with encapsulated bacteria, but these patients are also at risk of developing
autoimmune and/or immune-complex diseases such as chronic inflammation of the
blood vessels of the brain, spinal cord, heart, or kidneys. No CFI replacement
therapy, including for prophylactic use, has been approved, and patients often
receive supportive care with lifelong antibiotic treatment, which may cause a
range of additional problems. We have received pre-IND guidance from the FDA as
well as Rare Pediatric Disease Designation of CB 4332 for treatment of CFI
deficiency in January 2022.

Low circulating serum CFI levels have been shown to be associated with rare CFI
genetic variants and all forms of AMD ranging from early to late-stage
manifestations. Studies have estimated the prevalence rates of CFI deficiency in
GA to be approximately 20%, suggesting that CFI is a prognostic biomarker for
progression of GA. Approximately 1 million individuals globally are predicted to
have low serum CFI levels and may potentially benefit from targeted CFI therapy.
Gyroscope released interim results from its FOCUS phase 1/2a trial for patients
with GA and having rare CFI variants, showing that gene therapy with GT005, an
AAV-delivered CFI rebalanced the overactivation of complement observed in the
vitreous with sustained expression of CFI. The FOCUS data also showed that
AAV-delivered CFI reduced complement biomarkers in the broader GA population who
do not have a rare CFI genetic variant.

We have other early-stage complement discovery programs that target different complement system proteins, including proteases from our ProTUNE™ C3b/C4b and ImmunoTUNE™ C3a/C5a degrader platforms. These proteases are designed to target specific complement disorders or inflammatory pathways. The ProTUNE™ platform generates next-generation optimized CFI molecules that are selectively enhanced for potency and target engagement.

Coagulation programs

MarzAA


MarzAA is a potent, subcutaneously administered, next-generation Factor VIIa
variant. We commenced enrollment of a Phase 3 registrational trial of MarzAA for
episodic treatment of spontaneous or traumatic bleeding episodes in adolescents
and adults with congenital hemophilia A or hemophilia B with inhibitors in May
2021. We have discontinued this trial based on a number of factors, including
challenges in enrollment resulting from the limited number of potential patients
eligible to enroll in this trial, competition from competing approved therapies,
delays in enrollment resulting from COVID-19, the capital requirements to
complete the trial, and other factors. Patients enrolled in the study returned
to their standard of care and completed all required safety assessments. In the
patients enrolled to date, we have successfully treated bleeds with SQ MarzAA
and have not observed any adverse events. We plan to report these data at an
appropriate medical conference in the future. We had also begun enrollment of a
Phase 1/2 trial of MarzAA for treatment of bleeding in individuals with Factor
VII Deficiency, Glanzmann Thrombasthenia, and hemophilia A with inhibitors on
emicizumab prophylaxis. We have discontinued this trial as well, in light of the
difficulties in identifying and enrolling eligible patients,

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the capital requirements to complete the trial and other factors. We believe
that a SQ recombinant Factor VIIa therapy, like MarzAA, has the potential to be
an important treatment option for patients with various bleeding disorders and
are exploring opportunities to license or sell MarzAA to another party for
further development.

DalcA


DalcA is a next-generation SQ Factor IX product candidate for the prophylactic
treatment of individuals with hemophilia B. An open-label, Phase 2b study was
completed in 2020, demonstrating that FIX plasma activity levels were raised
from severe to mild hemophilia B levels and maintained throughout the course of
the study. We have received guidance from the FDA on the design of the
registrational Phase 3 clinical trial, have the necessary data to support its
initiation, and are exploring opportunities to license or sell DalcA to another
party for further development.

Recent funding


We have no drug products approved for commercial sale and have not generated any
revenue from drug product sales. From inception to March 31, 2022, we have
raised net proceeds of approximately $510.1 million, primarily from private
placements of convertible preferred stock since converted to common stock,
proceeds from our merger with Targacept, issuances of shares of common stock and
warrants, including $84.3 million in total cash receipts from our license and
collaboration agreements.

We have never been profitable and have incurred significant operating losses in
each year since inception. Our net losses were $14.5 million and $22.4 million
for the three months ended March 31, 2022 and 2021, respectively. As of March
31, 2022, we had an accumulated deficit of $417.2 million. As of March 31, 2022,
our cash and cash equivalents balance was $34.8 million. Substantially all our
operating losses were incurred in our research and development programs and in
our general and administrative operations.

Overview of financial operations

Licensing and Collaboration Revenue


License and collaboration revenue consists of revenue earned for performance
obligations satisfied pursuant to our license and collaboration agreement with
Biogen which was entered into in December 2019. In consideration for the grant
of an exclusive license and related know-how, we received an up-front license
payment of $15.0 million in January 2020, which was recorded in license revenue
during the year ended December 31, 2020. We recognized collaboration revenue for
reimbursable third-party vendor, out-of-pocket and personnel costs pertaining to
the Biogen Agreement of $0.8 million and $1.5 million for the three months ended
March 31, 2022 and 2021, respectively. In March 2022, we received notice that
Biogen is terminating the license and collaboration agreement. Under the terms
of the Biogen Agreement, termination will be effective in May 2022.

We have not generated any revenue from the sale of pharmaceuticals and we do not expect to generate revenue from the sale of pharmaceuticals until we obtain regulatory approval and commercialize our product candidates.

Licensing cost and collaboration revenue


Cost of license and collaboration revenue consists of fees for research and
development services payable to third-party vendors, and personnel costs,
corresponding to the recognition of license and collaboration revenue from
Biogen. Cost of license and collaboration revenue does not include any allocated
overhead costs. In connection with the license revenue recognized from Biogen as
discussed above in 2020, we paid Mosaic a $3.0 million sublicense fee and
recorded such payment as cost of license. We recognized third-party vendor,
out-of-pocket and personnel costs, most of which were reimbursable, pertaining
to the Biogen Agreement of $0.8 million and $1.5 million for the three months
ended March 31, 2022 and 2021, respectively, and recorded such costs as cost of
collaboration revenue.

Research and development costs


Research and development expenses represent costs incurred to conduct research,
such as the discovery and development of our product candidates. We recognize
all research and development costs as they are incurred. Nonrefundable advance
payments for goods or services used in research and development are deferred and
capitalized. The capitalized amounts are then expensed as the related goods are
delivered or services are performed, or until it is no longer expected that the
goods or services will be delivered.

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Research and development expenses mainly consist of the following items:

• personnel expenses, which include salaries, benefits and shares

compensation;

• laboratory and supplier fees, including payments to consultants and third parties

       parties, related to the execution of preclinical, non-clinical, and
       clinical studies;

• the cost of acquisition and manufacture of preclinical and clinical equipment

and develop manufacturing processes;

• clinical trial costs, including third party clinical research costs

       organizations;


  • performing toxicity and other preclinical studies; and

• facilities and other allocated expenses, which include direct and allocated expenses

rental and maintenance costs for premises, depreciation and

depreciation charges and other supplies.



The table below details our internal and external costs for research and
development for the period presented (in thousands). See Overview and Program
Status for further discussion of the current research and development programs.

                                             Three Months Ended March 31,
                                              2022                 2021
Personnel and other                       $       4,140       $         4,624
Complement                                        3,383                 4,650
Hemophilia                                        2,052                 7,370
Stock-based compensation                            128                   369

Total research and development expenditure $9,703 $17,013





The largest component of our total operating expenses has historically been our
investment in research and development activities, including the clinical and
manufacturing development of our product candidates. Costs listed for our
hemophilia and complement programs above consist of clinical trial,
manufacturing and research costs. Our internal resources, employees and
infrastructure, identified above as personnel and other, are generally not
directly tied to individual product candidates or development programs. As such,
we do not maintain information regarding these costs incurred for these research
and development programs on a project-specific basis.

Since we have ceased our research and development activities, we expect our overall research and development expenses to be minimal over the next year as we continue to explore strategic opportunities for the clinical development and manufacturing of our programs.


On May 20, 2016, we signed a development and manufacturing services agreement
with AGC, pursuant to which AGC will conduct manufacturing development of agreed
upon product candidates. We will own all intellectual property developed in such
manufacturing development activities that are specifically related to our
product candidates and will have a royalty-free and perpetual license to use
AGC's intellectual property to the extent reasonably necessary to make these
product candidates, including commercial manufacturing. As of March 31, 2022,
six GMP batches have been manufactured at AGC in addition to an engineering
batch.

The initial term of the agreement is ten years or, if later, until all stages
under outstanding statements of work have been completed. Either party may
terminate the agreement in its entirety upon written notice of a material
uncured breach or upon the other party's bankruptcy, and we may terminate the
agreement upon prior notice for any reason. In addition, each party may
terminate the agreement in the event that the manufacturing development
activities cannot be completed for technical or scientific reasons. We had firm
work orders with AGC to manufacture MarzAA and DalcA to support clinical trials
totaling $15.8 million. The payment obligations were fully paid off as of
December 31, 2021. We also have firm work orders with AGC to perform certain
manufacturing services related to our collaboration agreement with Biogen
totaling $0.7 million and the payment obligations were fully paid off as of
March 31, 2022.

In July 2021, we entered into two separate agreements, one for additional
clinical trial services for MarzAA, and another for our screening and natural
history of disease clinical studies related to CFI deficiency, with total
payments of up to $3.2 million and $6.5 million, respectively. In November 2021,
we provided notice of intent to terminate our MarzAA manufacturing agreements
and incurred charges of $3.8 million to write-off prepaid manufacturing costs
that will no longer be used for the clinical development of MarzAA. We can
terminate the CFI agreement at our discretion and upon termination will be
responsible to pay for those services incurred prior to termination plus
reasonable wind-down expenses.

On September 16, 2021, we signed a Manufacturing and Research and Development
Studies Agreement to support the lyophilized drug product, CB 4332. The
agreement covers analytical method qualification to support GMP manufacturing.
We have firm work orders related to this agreement totaling $0.3 million and the
payment obligations remaining as of March 31, 2022 were $0.1 million.

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We also have a long-term clinical supply services agreement with Catalent
Indiana, LLC ("Catalent"). Catalent has facilities in the U.S. and Europe and
conducts drug product development and manufacturing for MarzAA and DalcA. We
successfully completed development work for a variety of vial sizes which
supports flexible dosing.

General and administrative expenses


General and administrative expenses consist of personnel costs, allocated
expenses and other expenses for outside professional services, including legal,
human resources, audit and accounting services. Personnel costs consist of
salaries, bonus, benefits and stock-based compensation. We incur expenses
associated with operating as a public company, including expenses related to
compliance with the rules and regulations of the Securities and Exchange
Commission ("SEC") and Nasdaq Stock Market LLC ("Nasdaq"), insurance expenses,
audit expenses, investor relations activities, Sarbanes-Oxley compliance
expenses and other administrative expenses and professional services. We expect
such expenses to fluctuate as we continue to explore strategic opportunities for
our programs.

Results of Operations

The following table set forth our results of operations data for the periods
presented (in thousands):

                                         Three Months Ended March 31,
                                           2022                 2021           Change ($)       Change (%)
Revenue:
License                               $            -       $            -     $          -                 *
Collaboration                                    794                1,467             (673 )              46 %
License and collaboration revenue                794                1,467             (673 )              46 %
Operating expenses:
Cost of license                                    -                    -                -                 *
Cost of collaboration                            798                1,480             (682 )              46 %
Research and development                       9,703               17,013           (7,310 )              43 %
General and administrative                     4,994                5,412             (418 )               8 %
Total operating expenses                      15,495               23,905           (8,410 )              35 %
Loss from operations                         (14,701 )            (22,438 )          7,737                34 %
Interest and other income, net                   165                    -              165                 *

Net loss and comprehensive loss ($14,536) ($22,438)

  $      7,902                35 %



*Not meaningful

Licensing and Collaboration Revenue


License and collaboration revenue was $0.8 million and $1.5 million during the
three months ended March 31, 2022 and 2021, respectively. In the three months
ended March 31, 2022 and 2021, revenue consisted primarily of reimbursable
collaboration expenses from our Biogen Agreement.

Cost of license and collaboration


Cost of license and collaboration revenue was $0.8 million and $1.5 million
during the three months ended March 31, 2022 and 2021, respectively. Cost of
collaboration for the three months ended March 31, 2022 and 2021 was primarily
reimbursable third-party vendor and personnel costs we incurred pertaining to
the Biogen Agreement.

                                       19
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Research and development costs


Research and development expenses were $9.7 million and $17.0 million during the
three months ended March 31, 2022 and 2021, respectively, a decrease of $7.3
million, or 43%. The decrease was due primarily to a decrease of $5.3 million in
hemophilia-related costs, a decrease of $1.3 million in complement-related
costs, a decrease of $0.5 million in personnel-related costs, and a decrease of
$0.2 million in stock-based compensation expense. Research and development
expenses for the three months ended March 31, 2022 include approximately $0.6
million of severance and other costs related to our reduction-in-force.

General and administrative expenses


General and administrative expenses were $5.0 million and $5.4 million during
the three months ended March 31, 2022 and 2021, respectively, a decrease of $0.4
million, or 8%. The decrease was due primarily to a decrease of $0.6 million in
professional services, partially offset by an increase of $0.2 million related
to our allowance for doubtful accounts. General and administrative expenses for
the three months ended March 31, 2022 include approximately $0.4 million of
severance and other costs related to our reduction-in-force.

Interest and other income, net


The $0.2 million increase in interest and other income, net for the three months
ended March 31, 2022 compared to the three months ended March 31, 2021 was
primarily due to a $0.2 million gain recognized upon the extinguishment of a
liability.

Recent accounting pronouncements

See “Recently Adopted Accounting Pronouncements” included in Note 2, Summary of Significant Accounting Policies, in the “Notes to the Condensed Consolidated Financial Statements” of this Form 10-Q.

Cash and capital resources


As of March 31, 2022, we had $34.8 million of cash and cash equivalents. For the
three months ended March 31, 2022, we had a $14.5 million net loss and $12.1
million cash used in operating activities. We have an accumulated deficit of
$417.2 million as of March 31, 2022. Our primary uses of cash are to fund
operating and business development expenses and general and administrative
expenditures. Cash used to fund operating expenses is impacted by the timing of
when we pay these expenses, as reflected in the change in our outstanding
accounts payable and accrued expenses.

We believe that our existing capital resources, including cash and cash
equivalents will be sufficient to meet our projected operating requirements for
at least the next 12 months from the date of this filing. We have based this
estimate on assumptions that may prove to be wrong, and we could utilize our
available capital resources sooner than we currently expect. We plan to continue
to fund losses from operations and capital funding needs through future equity
and/or debt financings, as well as potential additional asset sales, licensing
transactions, collaborations or strategic partnerships with other companies. At
the year ended March 31, 2022, we had effective registration statements on Form
S-3 that enable us to sell up to $150.0 million in securities subject to
limitations under SEC rules. The sale of additional equity or convertible debt
could result in additional dilution to our stockholders. The incurrence of
indebtedness would result in debt service obligations and could result in
operating and financing covenants that would restrict our operations. Licensing
transactions, collaborations or strategic partnerships may result in us
relinquishing valuable rights. We can provide no assurance that financing will
be available in the amounts we need or on terms acceptable to us, if at all. If
we are not able to secure adequate additional funding we may be forced to delay,
make reductions in spending, extend payment terms with suppliers, liquidate
assets where possible, and/or suspend or curtail planned programs. Any of these
actions could materially harm our business.

The following table summarizes our cash flows for the periods presented (in
thousands):

                                                           Three Months Ended March 31,
                                                             2022                 2021
Cash used in operating activities                       $      (12,050 )     $      (24,356 )
Cash provided by investing activities                            2,504      

27,581

Cash provided by financing activities                               16      

49,459

(Decrease) net increase in cash and cash equivalents ($9,530)

$52,684

                                       20
--------------------------------------------------------------------------------

Cash flow from operating activities


Cash used in operating activities for the three months ended March 31, 2022 was
$12.1 million. The most significant component of our cash used was a net loss of
$14.5 million. This included non-cash expense related to stock-based
compensation of $0.5 million, bad debt expense of $0.2 million and depreciation
and amortization of $0.1 million. In addition, cash inflow of $1.7 million was
attributable to the change in our net operating assets and liabilities primarily
as a result of a $1.5 million decrease in prepaid and other current assets, a
$1.1 million decrease in accounts receivable, and a $1.0 million increase in
accrued compensation and other accrued liabilities, partially offset by a $1.7
million decrease in accounts payable and a $0.2 million decrease in deferred
revenue related to the Biogen Agreement.

Cash used in operating activities for the three months ended March 31, 2021 was
$24.4 million, due primarily to a net loss of $22.4 million, and the change in
our net operating assets and liabilities of $3.0 million. The change in our net
operating assets and liabilities is due primarily to a $1.7 million increase in
prepaid and other assets, a $3.0 million decrease in accounts payable, and a
$0.7 million decrease in deferred revenue related to the Biogen Agreement,
offset by a $2.3 million decrease in accounts receivable. Non-cash charges of
$1.0 million were recorded for stock-based compensation.

Cash flow from investing activities

Cash flows generated by investing activities for the three months ended March 31, 2022
been $2.5 millionmainly due to the proceeds of maturities of investments.

Cash flows generated by investing activities for the three months ended March 31, 2021
been $27.6 millionmainly due to the proceeds of maturities of investments.

Cash flow from financing activities

Cash flow from financing activities for the three months ended March 31, 2022
was due to the issue of free shares.


Cash provided by financing activities for the three months ended March 31, 2021
was $49.5 million, due to $49.3 million in net proceeds from the issuance of
common stock related to our public offering in the first quarter of 2021 and
$0.2 million in stock grants.

Critical accounting policies and estimates


There have been no significant changes to our critical accounting policies since
December 31, 2021. For a description of critical accounting policies that affect
our significant judgments and estimates used in the preparation of our unaudited
condensed consolidated financial statements, refer to Item 7 "Management's
Discussion and Analysis of Financial Condition and Results of Operations"
contained in our Annual Report on Form 10-K.
ITEM 3. Quantitative and Qualitative Disclosures About Market Risk


Not applicable.

                                       21

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© Edgar Online, source Previews

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Measurement of the “wettability” of graphene and other 2D materials https://www.novascotiadownsyndromesociety.com/measurement-of-the-wettability-of-graphene-and-other-2d-materials/ Tue, 26 Apr 2022 16:50:47 +0000 https://www.novascotiadownsyndromesociety.com/measurement-of-the-wettability-of-graphene-and-other-2d-materials/ (left) VSFG spectra of interfacial water show that a suspended OH peak (3600 cm-1) appears when graphene is more than 4 layers thick. (right) The calculated wettability of VSFG is plotted as a function of adhesion energy from macroscopic observation. The two values ​​coincide closely, indicating increasing hydrophobicity as the number of graphene layers increases. […]]]>

(left) VSFG spectra of interfacial water show that a suspended OH peak (3600 cm-1) appears when graphene is more than 4 layers thick. (right) The calculated wettability of VSFG is plotted as a function of adhesion energy from macroscopic observation. The two values ​​coincide closely, indicating increasing hydrophobicity as the number of graphene layers increases. Credit: Institute of Basic Sciences

The wettability of a material is the ability of a liquid to maintain contact with a solid surface, and it is proportional to hydrophilicity and inversely proportional to hydrophobicity. It is one of the most important properties of a solid, and understanding the wettability of different substrates is essential for various industrial uses, such as desalination, coating agents, and water electrolytes.

Until now, studies on the wettability of substrates have been mainly measured at the macroscopic level. The macroscopic measure of wettability is usually determined by measuring the water contact angle (WCA), which is the angle that a drop of water makes with respect to the surface of the substrate. However, it is currently very difficult to accurately measure what is happening at the interface between a substrate and water at the molecular level.

Currently used microscopic measurement techniques, such as reflection infrared spectroscopy or Raman spectroscopy, are unable to selectively observe interfacial water molecules. Since the number of water molecules in the whole mass of the liquid is much larger than the molecules that come into contact with the surface, the signal from the interfacial water molecules is obscured by the signal from the water molecules in the mass of the liquid.

To overcome this limitation, a research team from the Center for Molecular Spectroscopy and Dynamics (CMSD) at the Institute for Basic Science (IBS) in Seoul, South Korea, and Korea University found that the Sum frequency generation vibrational spectroscopy (VSFG) could be used to measure the wettability of 2D materials. The team succeeded in measuring the vibrational mode of water molecules in the interfaces between graphene and water using VSFG spectroscopy.

VSFG is a useful technique that can relate macroscopic measurement results to properties at the molecular level. It is a surface selective tool to study interface molecules using its own surface selection rule, and it has very good surface resolution with few molecular layers.

Measurements of the water contact angle of graphene provide information on the macroscopic wettability. On the other hand, the VSFG experiment can provide information about the microscopic structure of interfacial water and the wettability of graphene. Credit: Institute of Basic Sciences

The group identified graphene’s unique ability to project the wettability of the substrate onto its surface, called ‘wetting transparency’. They observed that the wetting transparency of graphene decreases as the number of graphene layers increases, disappearing when the graphene is more than four layers thick. This is the first observation to describe that the surface of graphene becomes hydrophobic above a number of layers at the molecular level.

In addition, the researchers defined the new concept of VSFG wettability, which is the ratio of water molecules forming strong hydrogen bonds to water molecules with weak or no hydrogen bond formation. The wettability of VSFG is strongly correlated with the adhesion energy, which is calculated from the observed macroscopic measurements of WCA. This proved that the VSFG is an effective tool for defining the surface wettability of a material.

Using the wettability of VSFG, the researchers measured the wettability of graphene in real time, when an electric field was applied to it to form graphene oxide. It is impossible to observe real-time wettability with traditional WCA experiments. Therefore, this suggests that VSFG could be a decisive technique to measure the adhesion energy of water on any spatially confined interface where water contact angle measurement cannot be applied. In addition to graphene, VSFG spectroscopy should shed light on the wettability of other low-dimensional materials.

First author Eunchan Kim notes, “This study confirmed that VSFG spectroscopy can be used as a versatile tool for measuring wettability” and “We demonstrate the potential to measure the wettability of previously unobservable complex systems through VSFG spectroscopy. .

Professor CHO Minhaeng, Director of CMSD, notes, “With VSFG spectroscopy, we study the microscopic properties of graphene as well as other two-dimensional functional materials such as graphene oxide and hexagonal boron nitride,” and “Thanks to this, it will be possible to solve various problems that hinder the commercialization of two-dimensional functional materials.

This research has been published in the online edition of Chemistry April 26.


Identification of the wettability of graphene layers at the molecular level


More information:

Eunchan Kim et al, Graphene wettability, water contact angle and water interfacial structure, Chemistry (2022). DOI: 10.1016/j.chempr.2022.04.002

Journal information:
Chemistry

Provided by
Institute of Basic Sciences

Quote:
Measuring the “wettability” of graphene and other 2D materials (2022, April 26)
retrieved 26 April 2022
from https://phys.org/news/2022-04-wettability-graphene-2d-materials.html

This document is subject to copyright. Apart from any fair use for the purpose of private study or research, no
any part may be reproduced without written permission. The content is provided for information only.

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local mother takes care of her “little miracle” | News https://www.novascotiadownsyndromesociety.com/local-mother-takes-care-of-her-little-miracle-news/ Fri, 22 Apr 2022 17:15:00 +0000 https://www.novascotiadownsyndromesociety.com/local-mother-takes-care-of-her-little-miracle-news/ Every mother will say her child is one in a million. For a local mother, Krystal Bavis, her son, Noah, is one in a billion. After birth, Noah was diagnosed with mosaic Trisomy 12, a disease with only two known patients in the world. “There is so little information available about her disorder,” Krystal said. […]]]>

Every mother will say her child is one in a million. For a local mother, Krystal Bavis, her son, Noah, is one in a billion.

After birth, Noah was diagnosed with mosaic Trisomy 12, a disease with only two known patients in the world.

“There is so little information available about her disorder,” Krystal said. “I want to raise awareness because people don’t know about Noah or his illness. He’s such a special kid.

Krystal gave birth to Noah when she was in high school. He was born 10 weeks early.

Krystal knew that “premature” babies could have health issues and prepared herself mentally for what was to come.

“I thought he must be a normal preemie, but a month after he was born everything changed,” she said. While in the incubator, every time Noah ate, his oxygen level dropped to almost zero. It wasn’t just his lungs that struggled, as he was diagnosed with several different heart defects.

As she got older, Krystal started noticing more things that didn’t fit. Noah started developing squinty eyes, pointy ears with holes in the top and he just wasn’t growing the way he should. Doctors became concerned about a genetic problem and Noah was tested.






Noah Bavis and his mother, Krystal Bavis, hold hands while he was in NICU.




When the results came back, they saw that Noah’s twelfth chromosome had duplicated and made up 47% of his DNA. The official name for this is Mosaic Trisomy 12, which is somewhat similar to but different from Trisomy 21, which is commonly referred to as Down syndrome.

Trisomy 12 had only been identified five times, with only one person diagnosed reaching adulthood.

“They told me I could never bring him home from the hospital, but here he is nine years later,” Krystal said.

That doesn’t mean his life has been easy. Noah is the same height as his six-year-old brother, does not speak, and is blind in one eye. Noah just this week was added to the list of transplants for new eyes.

Since birth, Noah has continued to defy the odds. Doctors said he could never walk. Last year, after physical therapy and lots of practice, Noah walked alone for the first time.

Krystal will never forget the first time Noah rushed on her ass for the first time. Krystal said mobility is such an important part of a child having a good quality of life.

“They said he’d probably never be able to do that, but he came rushing at me at 100 mph. I couldn’t stop crying about it,” she said. He is absolutely a fighter. He beat all predictions. Having it has been an emotional roller coaster.

Noah has had more than 15 eye surgeries. He underwent open-heart surgery when he was just five years old. No matter what was thrown at him, he always overcomes.

All that surgery and all that struggle has taken its toll on the family.

“He’s been through more than most adults,” she said.

Noah has to go weekly or bi-weekly to Children’s Hospital Pittsburgh. Every time Krystal hears an ambulance, her body locks up. Krystal also has two other children, and caring for all three has put a strain on the family.

As a single mother of three, it takes everything she has for Krystal to keep their little family together. With such a rare disease, which so few also suffer from, Krystal said there were many times when she felt alone.

“There are awareness ribbons for so many disorders, but not for his,” she said. “There just isn’t as much help as you might think.”

Noah has health insurance to cover his medical expenses, but the true cost of his disorder is much higher.

Noah is in a wheelchair, but his house does not have a ramp or a bathroom on the first floor. Krystal’s vehicle, which she uses to take her to Pittsburgh, is not handicap accessible.

“We are at a standstill. As a single parent, it’s all up to me and I still have two other boys to take care of,” Krystal said.

Recently, Krystal had to take time off work to drive Noah to Pittsburgh. Having had to be away for so long to help Noah, she lost her job.

“Juggling all the things I have to do, it just seems impossible to work full time,” she said.

Despite all the challenges, Krystal said she wouldn’t change anything about her son. Noah is his first born and his best friend.

“God gives special babies to special people,” she said. “I wouldn’t change it for anything in the world. He’s the happiest child in the world.”

Although he wasn’t verbal, she said the two had developed their own little language. She said she always knows when something is wrong, and also when he is happy. A mother always knows.

“He may not eat or talk, but he loves to play and fight with his brothers,” she said.

Krystal wants to change the stigma around children who might be special. She said Noah is an amazing kid and not many people in the area know about him.

“This kind of thing can happen to anyone, something happened randomly,” she said. “A lot of people don’t know about his disorder, but that doesn’t define him. It’s a small miracle.

A GoFundMe campaign has been launched to help Krystal and Noah with expenses related to her disorder. Krystal said with rising gas prices, getting to Pittsburgh every week has become very expensive.

The GoFundMe campaign is available online at gofund.me/e9c0d5d8. The campaign name is Fight for Noah.

Dvorkin can be contacted by email at Gdvorkin@titusvilleherald.com.

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Study raises questions about popular genetic test for ‘abnormal’ embryos https://www.novascotiadownsyndromesociety.com/study-raises-questions-about-popular-genetic-test-for-abnormal-embryos/ Thu, 21 Apr 2022 07:00:00 +0000 https://www.novascotiadownsyndromesociety.com/study-raises-questions-about-popular-genetic-test-for-abnormal-embryos/ But the new study also shows the limits of transferring such embryos. A large majority of the 144 embryos transferred by the group had only one or two chromosomal abnormalities, but the transfers resulted in 11 miscarriages in addition to eight live births. “There are a lot of miscarriages in that ratio,” said Laura Hercher, […]]]>

But the new study also shows the limits of transferring such embryos. A large majority of the 144 embryos transferred by the group had only one or two chromosomal abnormalities, but the transfers resulted in 11 miscarriages in addition to eight live births.

“There are a lot of miscarriages in that ratio,” said Laura Hercher, director of student research in the genetic counseling program at Sarah Lawrence College.

The PGT-A test is used to screen for aneuploidy, which is when an incorrect number of chromosomes – too few or too many – are detected in sampled cells. An abnormal number of chromosomes can, in severe cases, lead to genetic disabilities, such as Down syndrome. More often than not, an incorrect number of chromosomes can lead to pregnancy failures, either by preventing the embryos from implanting or by causing miscarriages.

But the problem with PGT-A, according to the study authors, is that it provides an incomplete picture that is often interpreted as a very definitive result. The test relies on sampling a handful of cells from the outer coat of the developing embryo and testing to see if each has 23 pairs of chromosomes.

“The goal of PGT was to select embryos that would give someone a better chance of getting pregnant,” said Dr. David Barad, OB-GYN at the Center for Human Reproduction and co-author of the study. “But doing genetic testing doesn’t improve the embryos, it just gives us an idea of ​​who they are.”

Although moving forward with the use of these abnormal embryos may carry some risk, the authors of the new study, who were all connected to the clinic performing the transfers, say that viable embryos are currently ignored, leaving many women to believe they have no other options to achieve pregnancy.

“The miscarriage rate is about what you’d expect at such an advanced age,” clinic director and study co-author Dr. Norbert Gleicher said in an email. He added: “Ask the women what they prefer. A risk of miscarriage or no chance of having a baby. The answer will be clear.

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Michael Sullivan Honored as a Lightning Community Hero https://www.novascotiadownsyndromesociety.com/michael-sullivan-honored-as-a-lightning-community-hero/ Tue, 19 Apr 2022 23:54:31 +0000 https://www.novascotiadownsyndromesociety.com/michael-sullivan-honored-as-a-lightning-community-hero/ TAMPA BAY — The Tampa Bay Lightning honored Michael Sullivan as a Lightning community hero tonight during the first period of tonight’s game against the Detroit Red Wings. Sullivan, who received a $50,000 donation from the Lightning Foundation and the Lightning Community Heroes Program, presented by Jabil, will donate the money to GiGi’s Playhouse. Sullivan […]]]>

TAMPA BAY — The Tampa Bay Lightning honored Michael Sullivan as a Lightning community hero tonight during the first period of tonight’s game against the Detroit Red Wings. Sullivan, who received a $50,000 donation from the Lightning Foundation and the Lightning Community Heroes Program, presented by Jabil, will donate the money to GiGi’s Playhouse.

Sullivan has been instrumental on GiGi’s Playhouse Board of Directors, starting as a member and now as Chairman. When he and his wife discovered their first child would be born with Down syndrome, Sullivan made it a priority to learn about the diagnosis and advocate for those who have it. This has led him to help grow the programs currently offered at GiGi’s Playhouse, as well as creating new programs that fit into the Tampa Playhouse. Sullivan was instrumental in launching the Amina Grace Speech & Language program at GiGi’s Playhouse, which launched in fall 2021.

Tonight’s grant will be used to support GiGi’s Playhouse’s Amina Grace Speech & Language program. This program benefits people of all ages with Down syndrome by offering a 10-15 week session delivered by a speech-language pathologist. With funding from Community Hero, Gigi’s Playhouse will be able to enroll 10 children in each of its three sessions in 2022, fostering self-confidence, understanding, problem solving, social skills and overall quality of life for people with the syndrome. of Down.

Sullivan became the 489th Lightning Community Hero since Jeff and Penny Vinik launched the Lightning Community Hero program in 2011-12 with a five-season, $10 million commitment to the Tampa Bay community. Through tonight’s game, in total, the Lightning Foundation has awarded $25.55 million to more than 600 unique nonprofit organizations in the Greater Tampa Bay Area. In the summer of 2021, the Viniks announced that the Community Hero Program would give away an additional $10 million over the next five seasons.

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Fine-tune your dance moves for the upcoming ‘Legally Blonde’ musical | Entertainment https://www.novascotiadownsyndromesociety.com/fine-tune-your-dance-moves-for-the-upcoming-legally-blonde-musical-entertainment/ Thu, 07 Apr 2022 16:58:00 +0000 https://www.novascotiadownsyndromesociety.com/fine-tune-your-dance-moves-for-the-upcoming-legally-blonde-musical-entertainment/ This week I’m fully engrossed in perfecting my dance moves, dialogue, lyrics and accent for the upcoming musical “Legally Blond” which will take place at Kelowna Actors Studio on Ellis from April 20 to May 8. This production stars Joanne Booth as Elle Woods and Chad Abrahamson as Everett. In case you don’t remember the […]]]>

This week I’m fully engrossed in perfecting my dance moves, dialogue, lyrics and accent for the upcoming musical “Legally Blond” which will take place at Kelowna Actors Studio on Ellis from April 20 to May 8.

This production stars Joanne Booth as Elle Woods and Chad Abrahamson as Everett. In case you don’t remember the movie this musical is based on, it’s about a smart and sassy California girl who wants to be taken seriously so that her ex-boyfriend will fall in love with her again.

She follows him to Harvard, where she too is taking her LSAT and is now attending law school. Instead of reclaiming her love, she finds her love of knowledge, friendship, and integrity more important.

I play Paulette, a Jersey-accented hairstylist who befriends Elle due to their mutual love of hair care and dogs. Tickets are 70% sold out, so please book early if you wish to attend. There are still dinner and show tickets available via: albeit kelownaactorsstudio.com.

Tomorrow, the curtains will rise in Penticton when the Many Hats Theater presents “Hilda’s Yard”, a play written by Canadian playwright Norman Foster and directed by Ed Schneider.

This play is a heartwarming comedy about separation, unity and family matters. Hilda and Sam Fluck are newly single since their 30-year-old children moved out.

They are ready to relax so what could disturb their simple peace? The show runs until April 30, every Thursday, Friday and Saturday at the Cannery Trade Centre, 1475 Fairview Rd., Penticton.

Curtains up at 8 p.m. and Sunday matinee at 2 p.m. Tickets are $28 (adults) and $25 (students/seniors) via manyhatstheatre.com.

———

Poetry lovers will rejoice tomorrow in Kelowna at the BNA Tasting Room, 1254 Ellis St. Enjoy the book launch and reading of Lesley-Anne Evans, a collection of courageous, original and memorable poems, Mute Swans. This event is the closing season for Inspired Word Café. There will be an open mic at 7:00 p.m. and for those wishing to register, please arrive at 6:30 p.m.

Admission is $5 and books are available for purchase for $20, which Lesley-Anne will be happy to sign. You can also pre-purchase your book at Mosaic Books downtown on Bernard Avenue and Indigo at Orchard Park Mall.

———

Thursdays are also good for a good laugh at the Open Mic Comedy in Dakoda. It’s a great opportunity to try comedy for yourself or watch the comics test their gear in front of the best audiences in town. This show often has up to 20 comedians each doing five minutes of new material with a special 15-minute set by a special guest or hosts.

This week, Alex Miller and Bonnie Esson co-host and the smack dab in the middle, belongs to Scott Murata.

This show is offered through a donation to the Central Okanagan Foodbank, so please attend with plenty of dollars to donate to this very needy cause, especially at this time when prices for essential items are at an all time high.

———

New wave meets punk band, Proper Man, will be in residence every Saturday at Broken Hearts Club at the Crown & Thieves winery, 3887C Brown Road from 8:30-10:30 p.m. Leading Jason Parkes is also the winemaker of this very unique. place. The group also consists of Nori Wentworth; double bass, Petri Nieminen; Guitar, Travis Saunders; Piano and Justen Gordon; Drums. Tickets can be purchased through links on the website at crownthieves.com/pages/events. Visit the website to see other events happening at this amazing speakeasy that encourages glamorous outfits and decadent behavior.

———

Sunday at the Community Theatre, 1375 Water Street, find your inner child or just find a child and attend the 40th anniversary of the classic album The Cat Came Back, with four-time Juno winner Fred Penner .

This gentle giant with an undeniable ability to make you feel good about yourself is on tour to celebrate 40 years as a master of the North American family entertainment scene.

A Member of the Order of Canada, Penner is part of the fabric of child-rearing with his catchy songs and countless high-energy performances. He uses his stardom supporting organizations such as UNESCO, World Vision, UNICEF and the Canadian Down Syndrome Society and takes his self-proclaimed mandate to “never underestimate your ability to make a difference in the lives of ‘a child’ as a fundamental philosophy. Tickets are $30 plus fees via: selectyourtickets.com/event-pro/fred-penner.

Only one show at 2 p.m.

———

The dance is back this weekend at Blue Gator, 441 Lawrence Ave., with NFA, a dance-rock mashup playing all the hits of the 80s and 90s, including Def Leppard, ZZ Top, Honeymoon Suite, Loverboy, Doug and Les Slugs, Prism and Boney M, to name a few. Live music starts at 9 p.m. Friday and Saturday nights, $10 entrance fee at the door.

———

Vibes at the Vine, at Vibrant Vine Winery, 3240 Pooley Road in Kelowna, is back for weekly live music from 2-4 p.m. every Saturday with no admission charge. Admission is first come, first served.

For more information on programming and special events, visit thevibrantvine.com/LiveMusic.

———

Saturday night, the Vernon Jazz Society, 3000-31st Street, hosts tenor saxophonist and Vancouver jazz impresario Cory Weeds, who will perform with a star quintet consisting of Brad Turner on piano, John Lee on bass, Jesse Cahill on drums and Julian Borkowski on trumpet.

The quintet will feature the music of legendary hard-bop pianist-composer Horace Silver.

Weeds founded the Jazz Cellar and is now artistic curator of Frankie’s Jazz Club, both in Vancouver. Tickets for this show are $40 and can be purchased at vernonjazz.com.

Anna Jacyszyn is an award-winning jazz singer. Email: artafacteven@gmail.com.

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Diagnosis, causes, prognosis and more https://www.novascotiadownsyndromesociety.com/diagnosis-causes-prognosis-and-more/ Thu, 07 Apr 2022 07:00:00 +0000 https://www.novascotiadownsyndromesociety.com/diagnosis-causes-prognosis-and-more/ Did you know that your baby’s genetic makeup was determined at conception? From the moment the sperm met the egg, your little one’s genetic code, DNA, began to form. It is made up of 23 pairs of chromosomes. Sometimes, however, extra chromosomes end up in the mix and can result in what is called trisomy. […]]]>

Did you know that your baby’s genetic makeup was determined at conception? From the moment the sperm met the egg, your little one’s genetic code, DNA, began to form. It is made up of 23 pairs of chromosomes. Sometimes, however, extra chromosomes end up in the mix and can result in what is called trisomy.

Edwards syndrome is also known as trisomy 18. This means that a person has an extra copy of chromosome number 18, which causes developmental problems. Learn more about the symptoms of this syndrome, its causes, and what you can expect after a diagnosis.

Trisomy 18 is a rare genetic disorder that affects approximately 1 in 3,315 births in the United States – about 1,187 babies each year.

In typical development, a baby receives 23 pairs of chromosomes from its parents at conception – 22 are called autosomes and 1 set is made up of sex chromosomes (X and/or Y, depending on the sex of the baby).

The word “trisomy” means three bodies. When there are three copies of the chromosome versus the usual two, it creates an imbalance. As a result, a baby may be born with certain structural changes, some of which may lead to miscarriage, stillbirth, or death after the baby is born.

Variants

Babies can be born with an extra copy of chromosome 18 in every cell in the body. This is called complete trisomy 18 and leads to more serious health problems.

Mosaic trisomy 18 occurs when only certain cells in the body contain the extra chromosome. About 5% of babies with trisomy 18 have the mosaic form. This usually leads to milder irregularities and longer life expectancy.

Partial trisomy 18 occurs when an extra copy of chromosome 18 attaches to another chromosome. Again, the severity of the syndrome tends to be associated with the total number of cells affected by the trisomy. Thus, a partial trisomy tends to have less severe effects and a longer life expectancy.

You may not notice anything different during your pregnancy if your baby has Edwards syndrome. In fact, you may only learn of your baby’s diagnosis after your doctor orders certain prenatal screening tests, such as:

Some families don’t find out about their child’s diagnosis until birth, when the following physical characteristics may include:

Other health issues may include:

  • difficulty feeding or sucking
  • difficulty gaining weight (also known as stunting)
  • congenital heart problems, such as ventricular septal defect
  • cryptorchidism – undescended testicles
  • eye or vision problems, such as clouding of the cornea, small eyes, strabismus (crossed eyes), or nystagmus (uncontrolled eye movements)
  • hearing loss
  • seizures
  • gastrointestinal problems
  • cancerous growths, especially in the kidneys and liver

Trisomy 18 is caused by any condition that leads to an extra copy of chromosome 18 in the body.

In most cases, this happens when the sperm meets the egg during conception. In one scenario, the reproductive material of either parent may divide spontaneously. In another case, trisomy can occur when cells divide after fertilization. Anyway, the extra chromosome occurs randomly.

Translocation is another possibility, which means that parts of chromosomes break off and attach to other chromosomes. This can occur randomly or through a “balanced” translocation, in which one parent has a set of chromosomes that are not typical but are balanced. When the chromosomes are balanced, they do not cause medical problems. After breeding, however, the genetic information passed on can cause trisomy.

Edwards syndrome can be diagnosed at some point during your pregnancy. You can be tested for cell-free DNA (cfDNA) any time after 10 weeks of pregnancy and until delivery. cfDNA is a simple blood test that screens for genetic conditions. A positive result from this test means that you will need further tests to confirm the results.

Other tests during pregnancy include:

  • Amniocentesis and chorionic villus sampling are more invasive diagnostic tools you can get after 15 weeks of pregnancy. Your doctor will take a sample of your amniotic fluid or placenta to look for extra copies of chromosome 18.
  • An ultrasound may reveal physical features (small head, webbed neck, irregularities in the hands or feet, etc.) of the syndrome.

Other times, trisomy 18 may not be diagnosed until your baby is born. Your child’s doctor can diagnose it based on:

  • physical traits or characteristics
  • heart problems or other malformations
  • blood tests that analyze your child’s chromosomes

Trisomy 18 is incurable. Since babies with this condition tend to have multiple health issues, you’ll work with a team of doctors to create a personalized treatment plan. In more severe cases, some families prioritize hospice or palliative care.

Treatments are more about putting a child at ease or correcting problems that affect a particular child. For example, surgery may be an option to treat things like:

  • heart defects
  • kidney problems
  • head or face irregularities

As a child grows, they may need academic and physical support. Early intervention and special education programs can help fill these gaps.

You might be surprised to learn that there are very few risk factors for Edwards syndrome.

There may be an increased risk of having a baby with Down syndrome as you get older. While different reports show that mothers in their late teens and 20s can have children with Down syndrome, the average age is closer to 32.5.

In rare cases, trisomy 18 can be inherited from a biological parent (by balanced translocation). If you have already had a child with Down syndrome, your doctor may suggest that you have genetic testing to assess your chances of having another child with a similar condition.

The vast majority of the time, however, Edwards syndrome occurs by chance during conception when the sperm meets the egg.

It’s important to be prepared for all possibilities with a condition like trisomy 18. Researchers share that nearly half of all babies born with Edwards syndrome who survive delivery may not live beyond the first week of life.

That said, the severity of the syndrome depends on the type (complete, mosaic, partial, etc.) and the effects it has on your child. All children are different and therefore all perspectives will be unique.

Among children born with Edwards syndrome, nearly 50% will not survive beyond the first week of life. However, about 10% will reach their first birthday, and some may live into adolescence or even adulthood, but they will need medical support or therapies, including:

  • physical therapy
  • occupational therapy
  • speech therapy

Although you may worry about your child and their long-term prospects, try to take it day by day. And don’t forget yourself or your own sanity in the process.

There is support for families with children with Edwards Syndrome. Consider contacting the Trisomy 18 Foundation or the Support Organization for Trisomy 13, 18 and Related Disorders (SOFT). Your doctor may also be able to help connect you with a local group for support and other resources.

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On Middle Abbey Street, a venue’s marquee conceals a cheerful work of art https://www.novascotiadownsyndromesociety.com/on-middle-abbey-street-a-venues-marquee-conceals-a-cheerful-work-of-art/ Tue, 05 Apr 2022 23:19:13 +0000 https://www.novascotiadownsyndromesociety.com/on-middle-abbey-street-a-venues-marquee-conceals-a-cheerful-work-of-art/ An overview of the terrain. Photo by Michael Lanigan. In the evening, the lights come on behind the retro marquee that hangs above the entrance to the Academy on Middle Abbey Street. These days, the garish whiteboard announces upcoming live events. During the pandemic, he hosted comments on the latest buzz stories, jokes that mimicked […]]]>

In the evening, the lights come on behind the retro marquee that hangs above the entrance to the Academy on Middle Abbey Street.

These days, the garish whiteboard announces upcoming live events.

During the pandemic, he hosted comments on the latest buzz stories, jokes that mimicked the tweets of an insane Dubliner and, invariably, spread rapidly over time.

Before this sign was erected, the face of the building was defined by a less ostentatious display. For years, its main marker was a sculpted relief.

The work, which predates the Academy and today is mostly hidden behind the sign and a shutter, is a series of circular images carved into limestone panels above the entrance doors.

Each panel represents either an instrument or a smiling musician. One plays a violin, another beats a bodhran.

The figures are composed of thick lines, with round bodies and misshapen limbs. Their forms are not realistic, but simplistic and surreal.

From the street, a single character emerges, that of a flautist. Her arms protrude from her hips and her eighth notes float in the air.

What she does, however, won’t be obvious to most passers-by. The shutter, even rolled up, obscures most of its body.

But ticket holders who look up in the brief moment they step out of line and into the reception area may catch her and the other characters playing.

Created in the late 90s, the original relief was once twice as large, covering almost half of the main facade.

When the room was taken over by its current owners, Shine Production, the lower part was replaced by generic tiles, including the bit bearing the name of the artist: Georgie McCutcheon.

A gift

A painter, sculptor and disability and arts activist, McCutcheon was born in 1958 to parents who were agricultural nobility in Tipperary.

He was born with Down’s Syndrome, and before he was a year old McCutcheon was sent to Sunbeam House, which was at the time an orphanage and home for mentally challenged children in Bray.

“He never knew his family,” says Gladys Lydon, a lifelong friend and co-founder of Camphill Ballytobin, an intentional community for people with disabilities in Kilkenny.

“He was a very helpless person. You must have known that when you met him. He was outgoing, talkative and confident,” she says, “but he had a vulnerable side.”

The Academy. Photo by Michael Lanigan.

In his early teens, McCutcheon often traveled to Wexford, spending his summer holidays with friends living in Camphill Duffcarrig, a similar community outside Gorey.

There, he befriends a volunteer, Patrick Lydon, Gladys’ late husband.

Patrick Lydon was originally from Massachusetts and had left the United States as a conscientious objector to the Vietnam War. He joined Duffcarrig in 1972.

Lydon died in January of this year. But six months before his death, he spoke of meeting McCutcheon for the first time. He was, says Lydon, “a ball of energy full of mischief”.

“He was fiery,” Lydon said with a laugh. “I liked that stuff.”

When McCutcheon moved to Duffcarrig, Patrick had already gone to work in a Camphill community in Aberdeen.

Then in 1979, once Patrick returned to Ireland with Gladys to stage Ballytobin, he crossed paths with the artist again. McCutcheon finally went to live with the couple in 1982.

“We always intended Ballytobin to be a place for children,” says Gladys. “But some adults were living with us as helpers and Georgie came as a helper. He was a great gift.

A warm art

Every day, Gladys says, McCutcheon helped her prepare lunch for 24 of the community’s residents. He cared for his young children, answered telephone calls and, in his spare time, practiced his art.

“It had a drawing phase on slates,” Gladys explains, “and came into cardboard, three-dimensional pieces held together by Sellotape.”

Often he created sculptures as gifts for specific occasions, she says. At one point, he built a miniature slide for Gladys’ daughter’s guinea pig.

Crosses were a recurring motif in McCutcheon’s work, she says. “They almost always had a religious theme. Three crosses.

Another recurring image was the sun, says Paul Bokslag, a painter based in Kilkenny.

The power of the sun was really tied to McCutcheon’s work, he says. “It’s heat and food. Sometimes he put a face to it. He had a really special visual vocabulary.

McCutcheon was influenced by the Spanish painter Joan Miró, whose hard-to-classify work explored the subconscious through bright, bold colors and abstract figures.

In the late ’80s, as McCutcheon was refining his own style, Patrick sought to find him a mentor, Gladys says. Patrick called upon local artists to teach him drawing from life, assembling mosaics and pouring concrete.

“He was very prolific and never stopped working,” says David Lambert, his stone carving mentor.

Lambert brought McCutcheon to his studio, he says. It was there that together they made the relief of Middle Abbey Street.

Georgia McCutcheon. Image courtesy of Paul Bokslag.

Let go

McCutcheon painted the images, which Lambert, his apprentices, and McCutcheon chiseled and sandblasted onto limestone.

It took a few years, says Lambert. The couple also made a carved high cross for a community theater in Ballytobin.

In 1999 McCutcheon’s relief was unveiled as part of the Hot Press Irish Music Hall of Fame, a memorabilia museum of Ireland’s musical history.

Lambert and McCutcheon flew to Dublin for the event, Lambert said. “The Corrs drummer had her hand cast in stone. Georgie always rose to these kinds of occasions. At openings, he was always talking about what he was doing.

The Hall of Fame closed at the end of 2001 and was replaced by the Spirit nightclub.

In 2007, the Academy opened in its place. Until 2014, the McCutcheon landform was fully visible, although the surface was white with efflorescence.

Then, in September 2014, the management of The Academy changed. According to a press release, the venue has been refurbished in a “Victorian music hall style”. During this process, six of the limestone panels were removed, including those containing a violinist, dancers and a saxophonist next to McCutcheon’s signature.

The Academy did not respond to questions about the destination of the signs.

Bokslag and Lambert assume they were lost or destroyed, they say – but they are optimistic about it.

“With anything in the public domain that I’m involved in, I tend to give up,” Lambert says.

“I did a sculpture for Collins Barracks, for the monument there, and a few years later I went back to see it and it was totally vandalized,” he says. “I let things happen.”

Relief. Photo by Michael Lanigan.
Image courtesy of David Lambert.

In the second half of his life, McCutcheon moved to Callan, a neighboring town to Ballytobin, Bokslag says.

There, Bokslag says, he helped Patrick, Gladys and other Camphill associates found the Kilkenny Collective for Arts and Talent, an inclusive arts center for people of all abilities.

When the KCAT Art and Study Center opened in 1999, McCutcheon was christened his “father” – around the same time he began to refer to himself as Lydon-McCutcheon.

His works have been exhibited in Germany, the Netherlands, Sweden and the United States, according to the KCAT website. His show in the United States took place at Patrick Lydon’s alma mater, Phillips Exeter Academy in New Hampshire, Bokslag said.

In 2014, McCutcheon had a retrospective at KCAT and, according to Gladys, two of her biological brothers visited the show.

“I said to one of his brothers, ‘It would be great to meet you and tell you about Georgie, because he had a good life,'” Gladys says. “But they chose not to meet him. Both saw him from afar and bought much of his work.

Gladys says a brother told her they had memories of McCutcheon as a baby and after he was taken away he was not talked about in the house.

“The family situation was very sad,” she says. “But that was the time. It was something not to be judged.”

McCutcheon was diagnosed with dementia and died in October 2015, aged 57.

“I think he would have died of dementia years ago, if he hadn’t been an artist,” says Gladys. “It was amazing to see how he was driven to do art every day for the past 15 years.”

McCutcheon was a legend, says Pádraig Naughton, director of Arts and Disability Ireland. “He paved the way for a generation of artists.”

He was the inspiration and driving force behind what KCAT is today, says Naughton. “And he was an incredible spokesperson and representative for KCAT, who was very difficult to replace.”

According to Bokslag, one of Patrick Lydon’s last statements in the days before his own death “was that he was looking forward to seeing Georgie again”.

Bokslag still misses McCutcheon, he says. “He was such an inspiring and lively person. People reacted to that.”

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How a furious comeback gave Kansas its fourth NCAA men’s title https://www.novascotiadownsyndromesociety.com/how-a-furious-comeback-gave-kansas-its-fourth-ncaa-mens-title/ Tue, 05 Apr 2022 17:26:44 +0000 https://www.novascotiadownsyndromesociety.com/how-a-furious-comeback-gave-kansas-its-fourth-ncaa-mens-title/ NEW ORLEANS – As the Kansas players sadly left the Superdome floor at halftime Monday night, down 15 points, mired in fouls and stunned by a powder blue North Carolina hurricane, David McCormack was all to smile. The Jayhawks’ hulking senior center looked around the locker room, cheered, patted his teammates on the back and […]]]>

NEW ORLEANS – As the Kansas players sadly left the Superdome floor at halftime Monday night, down 15 points, mired in fouls and stunned by a powder blue North Carolina hurricane, David McCormack was all to smile.

The Jayhawks’ hulking senior center looked around the locker room, cheered, patted his teammates on the back and told them they’ve been there before, rallying on deficits throughout the season, including in the NCAA Tournament .

Still, there were more than a few sideways glances that greeted him.

“I was like, man, I don’t know if I’ve ever been here forward,” said teammate Christian Braun with a laugh. “Down 15 in the national championship game? I have certainly never been there before.

By the end of the night, the Jayhawks were somewhere else they hadn’t been in some time – standing on a podium in center court, blue confetti at their feet, having been crowned national champions.

The rich tradition of Kansas basketball, where the last two champions are bathed in divine light – Danny Manning and the Miracles, and the 3-point miracle of Mario Chalmers – has company in a blooming faith after the Jayhawks have staged the biggest comeback in NCAA championship game history. to beat North Carolina, 72-69, in front of 69,423 fans.

The Jayhawks, who once trailed by 16 points, fended off one late shot after another from North Carolina, which left everything — including the contents of Puff Johnson’s stomach — on the field.

Kansas eventually had to survive a hail of last-second 3-point attempts, the last just before the buzzer from Caleb Love, who had saved North Carolina twice in the tournament, after which the Jayhawks ran on the pitch to celebrate with McCormack, Braun and others yelling at their fans.

It was easy to understand the elation.

Credit…Robert Deutsch/USA Today Sports, via Reuters

The perennially snake-bitten Jayhawks, who have a long history of NCAA disappointments — including two years ago when they were ranked No. 1 in the nation before the pandemic wiped out the tournament — put those regrets behind them. It was only fitting, in a sense, that they were managed by McCormack, whose career arc reflected their uneven tournament fortunes.

The victory was the first championship for the Jayhawks since 2008, when they passed Memphis in overtime – sent there by Chalmers’ 3-pointer.

“It would be special to win regardless,” said Self, who added that he was overwhelmed and exhausted. “But winning when your team had to fight and coming back the way they did and showing a lot of grit makes this one a winner.”

“I thought it would be good,” he continued. “And it’s much better than I thought.”


NCAA Men’s Basketball: Final Four

Self became the first Kansas coach to win more than one title, standing out among some of the game’s most renowned leaders, from James Naismith – who is credited with inventing the game – to Phog Allen, whose Allen Fieldhouse is named after, and Larry Brown, who is the only coach to win the NCAA and NBA championships.

Whether Kansas will be able to defend its crown is less certain. The icy NCAA court process may be nearing a final verdict in a case stemming from a federal corruption scandal, from which five Level 1 allegations have been brought against Self’s program.

Oklahoma State was kicked out of this year’s tournament and Arizona, Louisville and Auburn imposed self-imposed bans following the same scandal. None of them have been charged with offenses as serious as those in Kansas.

Those questions, however, are for another day.

On Monday night there was another scintillating end to a Final Four under the roof of the Superdome – and for the first time in three years the festivities were backed by a noisy stadium packed with fans. Often that frame has been a blessing for North Carolina, which won here in 1982 when Michael Jordan sank a wing jumper, and again in 1993 when Michigan’s Chris Webber called a timeout, he didn’t have to seal a Tar Heels victory.

The Tar Heels, who survived an epic battle with Duke on Saturday sending rival coach Mike Krzyzewski to retirement, looked set for another celebration when they bounced back from an early deficit and threatened to chase Kansas from the field.

Sophomore point guard RJ Davis smashed the Kansas defense, center Armando Bacot put McCormack and backup Mitch Lightfoot at fault, and the Tar Heels took a 40-25 halftime lead.

It’s fair to wonder if Kansas stuck any pins in a voodoo doll the way its opponents let it down. Creighton center Ryan Kalkbrenner injured his knee late in an overtime win over San Diego State and missed the Bluejays narrow loss to Kansas. Villanova guard Justin Moore tore his right Achilles tendon in the closing seconds of a win over Houston, and his defense could have helped against Agbaji, who hit his first six 3-pointers against the Wildcats in of their national semi-final.

Then Bacot fell to the ground late in North Carolina’s win over Duke on Saturday night and had to be helped off the bench. He came back a little cautiously, but Sunday declared himself ready. “My status for tomorrow is ‘I’m playing,'” Bacot said, adding. “My right leg should be cut so I don’t play.”

Bacot played heroically – not quite himself, limping occasionally, but nonetheless going toe-to-toe and chest-to-chest with McCormack, two heavyweights hitting each other from the opening spike.

On the home stretch, after Kansas regained the lead, North Carolina also struggled with attrition. Brady Manek was floored with an early elbow to the head, Love had rolled his ankle and Johnson – after standing up to take a charge – fell to his knees shortly afterwards and vomited on the pitch .

North Carolina, however, was about to survive it all.

Davis had woken the Tar Heels from a 6-point deficit to draw even at 57 when he beat Johnson, who hit a 3-pointer in the corner in front of his own bench. And Manek put North Carolina back in front, 69-68, when he tipped Love’s drive to the basket with 1:41 to go.

McCormack responded when he collected his own rebound and laid the ball down. It would then be Bacot’s turn. He had scored 15 points and pulled out 15 rebounds – becoming the first player to have six double-doubles in a single tournament – ​​and used his athleticism to thwart McCormack. After luring McCormack near the top of the key, Bacot drove to his right, crossing the lane. But as he approached the basket, Bacot’s tender right ankle gave way. He landed with a thud on the ground, writhing in pain after returning the ball with 50 seconds to go.

Bacot got to his feet and hobbled to the defensive end of the field until the officials called the dead play so he could leave.

“I think I really got the angle I wanted,” Bacot said. “I thought it would have been an easy basket. And then I just wrapped my ankle as I rode.

Credit…Bob Donnan/USA Today Sports, via Reuters

Without Bacot in the game, Kansas, with a 70-69 lead, went straight to McCormack, who fought his way past Manek to put the Jayhawks ahead, 72-69, with 22 seconds left. He finished with 15 points and 10 rebounds.

North Carolina pushed the ball up and Love missed a 3-pointer, but Davis grabbed the rebound and gave Johnson, who missed another trey. Manek grabbed another rebound – the 24th offensively for North Carolina – but threw the ball out of bounds.

Even with that turnover, the Tar Heels got a reprieve when Dajuan Harris caught the inbound pass and went just out of bounds at Kansas. North Carolina set up a game for Manek, but he stumbled and wasn’t open. Instead, the ball went to Love, who saved the Tar Heels against UCLA with a pair of late 3-pointers and made another that sank Duke on Saturday night.

But this one, harassed and tormented, was not up to it.

A moment later, the Jayhawks came off the bench – this time, all smiles.

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