18 results on '"Catherine Gooch"'
Search Results
2. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
- Author
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Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, and Valerie A. Arboleda
- Subjects
CRISPR ,Genitopatellar syndrome ,KAT6B‐related disorders ,phenotypic spectrum ,Say‐Barber‐Biesecker‐Young‐Simpson syndrome ,variable expressivity, rare genetic diagnosis ,Genetics ,QH426-470 - Abstract
Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B‐related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B‐related disorders.
- Published
- 2021
- Full Text
- View/download PDF
3. Near complete deletion of <scp> KMT2D </scp> in a college student
- Author
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Catherine Gooch, Jaclyn Paige Souder, Matthew L. Tedder, Jennifer Kerkhof, Jennifer A. Lee, Raymond J. Louie, Bekim Sadikovic, Robin S. Fletcher, and Nathaniel H. Robin
- Subjects
Genetics ,Article ,Genetics (clinical) - Abstract
Pathogenic variants in KMT2D are typically associated with Kabuki syndrome (KS), a rare multisystem disorder. KS is characterized by facial dysmorphisms, intellectual disability, skeletal and dermatoglyphic differences, and poor growth. Seventy percent of individuals with clinically diagnosed KS have a confirmed pathogenic variant in KMT2D or less commonly KDM6A. The majority of mutations found in KMT2D are de novo nonsense or frameshift, with deletions and duplications rarely reported in the literature. Here we present the case of near complete deletion of KMT2D in a college student with normal intelligence discovered via exome sequencing and EpiSign methylation testing. This case provides evidence that large deletions in KMT2D are compatible with normal intelligence and presents EpiSign as a method for discovering molecular causes of KS not identified by traditional molecular testing.
- Published
- 2022
4. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
- Author
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Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Q. Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L. Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, and Timothy C. Cox
- Subjects
All institutes and research themes of the Radboud University Medical Center ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Genetics ,Genetics (clinical) - Abstract
Contains fulltext : 291896.pdf (Publisher’s version ) (Closed access) AMOTL1 encodes angiomotin-like protein 1, an actin-binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report a large cohort of individuals harboring heterozygous AMOTL1 variants and define a core phenotype of orofacial clefting, congenital heart disease, tall stature, auricular anomalies, and gastrointestinal manifestations in individuals with variants in AMOTL1 affecting amino acids 157-161, a functionally undefined but highly conserved region. Three individuals with AMOTL1 variants outside this region are also described who had variable presentations with orofacial clefting and multi-organ disease. Our case cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157-161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
- Published
- 2023
5. Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis
- Author
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Diane J. Aum, Prapti Singh, Samuel R. Cortez, Peter Yang, Catherine Gooch, Angela Lee, and Matthew D. Smyth
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Fontanelle ,Macrocephaly ,Osteopetrosis ,General Medicine ,medicine.disease ,Asymptomatic ,Hydrocephalus ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,Failure to thrive ,Medicine ,Neurology (clinical) ,Neurosurgery ,medicine.symptom ,business ,Ventriculomegaly - Abstract
Autosomal recessive osteopetrosis has a variable presentation, most commonly including failure to thrive, hypocalcemia, seizures, hepatosplenomegaly, hydrocephalus, vision or hearing loss, and cytopenias. Multiple symptoms are usually seen at presentation. The variability of presentation often delays diagnosis and subsequent treatment. Here, we present a case of an infant with this condition who initially presented with triventricular hydrocephalus with Chiari I malformation. This alone is not a common presentation of this disease, and we present this case to highlight autosomal recessive osteopetrosis as a potential diagnosis in infants presenting with hydrocephalus and discuss the other associated symptoms, management, and prognosis of this condition. The patient was a full-term infant with a routine newborn period. At 6 months, the infant had macrocephaly and frontal bossing with a bulging fontanelle. She was found to have hydrocephalus with moderate ventriculomegaly involving the third and lateral ventricles with an associated Chiari 1 malformation. The infant was asymptomatic at the time. The infant was promptly referred to neurosurgery and underwent an uncomplicated ventriculoperitoneal shunt placement. Post-operative X-rays showed increased density of the skull with other bone changes suggestive of autosomal recessive osteopetrosis. Subsequent lab work and imaging studies were consistent with this condition. The diagnosis was confirmed by genetic testing, and the patient has undergone treatment with hematopoietic stem cell transplant. Hydrocephalus is a common feature of this condition, typically seen in conjunction with other systemic symptoms and laboratory findings. Our patient had a limited initial presentation of triventricular hydrocephalus with Chiari I malformation and was otherwise clinically asymptomatic. There is limited literature of such a presentation, and we highlight this case to increase awareness, as timely diagnosis of these patients is critical for treatment and future outcomes.
- Published
- 2021
6. Immuno-skeletal Dysplasia with Neurodevelopmental Abnormalities complicated with Omenn Syndrome in a case of a compound heterozygous variants of exostosin-like 3 gene
- Author
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Sarah Mehta, Armen Sanosyan, Megan Cooper, Catherine Gooch, Jeffrey Bednarski, Luigi Notarangelo, Marita Bosticardo, and Maleewan Kitcharoensakkul
- Subjects
Immunology ,Immunology and Allergy - Published
- 2023
7. Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results
- Author
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Bruce R. Korf, Alexander E. Katz, Anne Slavotinek, Jessica F. Wakelee, Katherine E. Donohue, and Catherine Gooch
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Genetic counseling ,Applied psychology ,030105 genetics & heredity ,Article ,03 medical and health sciences ,Professional Competence ,Unknown Significance ,Genetics ,medicine ,Humans ,Test interpretation ,Genetic Testing ,Genetics (clinical) ,Retrospective Studies ,Genetic testing ,medicine.diagnostic_test ,Interpretation (philosophy) ,Test (assessment) ,030104 developmental biology ,Data Interpretation, Statistical ,Health Care Surveys ,Medical genetics ,Observational study ,Psychology - Abstract
The interpretation of genetic testing results is subject to error. This observational study illustrates examples of pitfalls and challenges in interpretation of genetic testing results as reported by genetics professionals. We surveyed genetics professionals to describe interpretation challenges, the types of variants that were involved, and the reported clinical impact of misconception of a test result. Case studies were then collected from a select group to further explore potential causes of misunderstanding. A total of 83% of survey respondents were aware of at least one instance of genetic test misinterpretation. Both professionals with and without formal training in genetics were challenged by test reports, and variants of unknown significance were most frequently involved. Case submissions revealed that interpretation pitfalls extend beyond variant classification analyses. Inferred challenges in case submissions include lack of genetic counseling, unclear wording of reports, and suboptimal communication among providers. Respondents and case submitters noted that incorrect interpretation can trigger unnecessary follow-up tests and improperly alter clinical management. Further research is needed to validate and quantify large-scale data regarding challenges of genetic results interpretation.
- Published
- 2021
8. Involvement of MAP3K7 in FMD2 and CSCF, delineation of genotype/phenotype correlations
- Author
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Geeske van Woerden, Richelle Senden, Charlotte de Konink, Rossella Avagliano Trezza, anwar baban, Jennifer Bassetti, Yolande Van Bever, Lynne Bird, Bregje van Bon, Alice Brooks, Qiaoning Guan, Eric Klee, Carlo Marcelis, Joel Morales-Rosado, Lisa Schimmenti, Amy Shikany, Paulien Terhal, Kathryn Weaver, Marja Wessels, Hester van Wieringen, Anna Hurst, Catherine Gooch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, and Serwet Demirdas
- Abstract
Mitogen-Activated Protein 3 Kinase 7 (MAP3K7, MIM 602614) encodes the ubiquitously expressed transforming growth factor β (TGF-β)–activated kinase 1 (TAK1), which plays a crucial role in many cellular processes. Variants in the MAP3K7 gene have been linked to 2 distinct disorders: frontometaphyseal dysplasia type 2 (FMD2, MIM #617137) and cardiospondylocarpofacial syndrome (CSCF, MIM #157800). The fact that different variants can induce 2 distinct phenotypes suggests a phenotype/genotype correlation, but no side-by-side comparison has been done thus far to confirm this. Here we significantly expand the cohort and the description of clinical phenotypes for individuals with CSCF and FMD2 who carry variants in MAP3K7. We show that in contrast to FMD2-causing variants, CSCF-causing variants in MAP3K7 have a loss-of-function effect. Additionally, patients with pathogenic variants in MAP3K7 are at risk for cardiac disease, have symptoms associated with connective tissue disease and we show overlap in clinical phenotypes of CSCF with Noonan syndrome. Together, we provide evidence for a molecular fingerprint of FMD2- versus CSCF-causing MAP3K7 variants and conclude that variants in MAP3K7 should be considered in the differential diagnosis of patients with syndromic congenital cardiac defects and/or cardiomyopathy, syndromic connective tissue disorders and in the differential diagnosis of Noonan syndrome.
- Published
- 2021
9. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
- Author
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Kathryn Elliott, Siddharth Srivastava, Meghan C. Towne, Hannah Medsker, Catherine Gooch, Robin D. Clark, John M. Graham, Chanika Phornphutkul, Jill A. Madden, Pankaj B. Agrawal, Maria F. Palafox, Deborah Krakow, Meghna Singh, Daniela N. Schweitzer, Ryan Gates, Ali Fatemi, Kimberly Nugent, Katheryn Grand, Samantha A. Schrier Vergano, Brianna K. Murray, Kate A. Tauber, Weiyi Mu, Erin Swartz, Timothy W. Yu, Julie S. Cohen, Kimberly Glaser, Svetlana Azova, Paul J. Benke, Mary Kathryn Chambers, Dana H. Goodloe, Christina Kresge, Valerie A. Arboleda, John A. Pugh, Kristin W. Barañano, Megan Yabumoto, S. Joy Dean, Beth A. Pletcher, Subhadra Ramanathan, Angela Wei, Jessica Kianmahd, Elizabeth Roeder, Natalia Gomez-Ospina, Jessica Smith, Cynthia S. Gubbels, and Anne H. O’Donnell-Luria
- Subjects
Male ,Say-Barber-Biesecker-Young-Simpson syndrome ,rare genetic diagnosis ,QH426-470 ,Bioinformatics ,Kidney ,Cohort Studies ,Craniofacial Abnormalities ,Congenital ,Intellectual disability ,Medicine ,CRISPR ,2.1 Biological and endogenous factors ,variable expressivity, rare genetic diagnosis ,Medical diagnosis ,Aetiology ,Genetics (clinical) ,Heart Defects ,Histone Acetyltransferases ,Pediatric ,Patella ,Phenotype ,Scrotum ,Original Article ,Abnormalities ,KAT6B-related disorders ,Multiple ,Heart Defects, Congenital ,Joint Instability ,Genitopatellar syndrome ,Genotype ,Genetic counseling ,Intellectual and Developmental Disabilities (IDD) ,Clinical Sciences ,Genetic Counseling ,Blepharophimosis ,Medicinal and Biomolecular Chemistry ,Rare Diseases ,Clinical Research ,variable expressivity ,Intellectual Disability ,Congenital Hypothyroidism ,Genetics ,Humans ,Abnormalities, Multiple ,Genetic Predisposition to Disease ,Genetic Testing ,Craniofacial ,Molecular Biology ,Alleles ,Genetic Association Studies ,KAT6B‐related disorders ,business.industry ,Facies ,Original Articles ,medicine.disease ,Say‐Barber‐Biesecker‐Young‐Simpson syndrome ,Transcriptome Sequencing ,Brain Disorders ,Genetic Loci ,Urogenital Abnormalities ,Mutation ,Congenital Structural Anomalies ,Psychomotor Disorders ,business ,phenotypic spectrum - Abstract
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B‐related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B‐related disorders., We describe 20 new cases harboring the KAT6B spectrum of disorders, which range from Say‐Barber‐Biesecker‐Young‐Simpson (SBBYSS) to Genitopatellar (GPS) syndrome or an intermediate phenotype. In our holistic approach, we expand the genotypic and phenotypic spectrum of KAT6B spectrum of disorders. Furthermore, we provide extensive clinical phenotyping, explore the impact of genetic counseling for these complex syndromes, and examine molecular mechanisms in RNA‐seq data in an in vitro cell model of truncating KAT6B mutations.
- Published
- 2021
10. Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis
- Author
-
Angela, Lee, Samuel, Cortez, Peter, Yang, Diane, Aum, Prapti, Singh, Catherine, Gooch, and Matthew, Smyth
- Subjects
Osteopetrosis ,Skull ,Humans ,Infant ,Female ,Hyperostosis ,Ventriculoperitoneal Shunt ,Hydrocephalus - Abstract
Autosomal recessive osteopetrosis has a variable presentation, most commonly including failure to thrive, hypocalcemia, seizures, hepatosplenomegaly, hydrocephalus, vision or hearing loss, and cytopenias. Multiple symptoms are usually seen at presentation. The variability of presentation often delays diagnosis and subsequent treatment. Here, we present a case of an infant with this condition who initially presented with triventricular hydrocephalus with Chiari I malformation. This alone is not a common presentation of this disease, and we present this case to highlight autosomal recessive osteopetrosis as a potential diagnosis in infants presenting with hydrocephalus and discuss the other associated symptoms, management, and prognosis of this condition.The patient was a full-term infant with a routine newborn period. At 6 months, the infant had macrocephaly and frontal bossing with a bulging fontanelle. She was found to have hydrocephalus with moderate ventriculomegaly involving the third and lateral ventricles with an associated Chiari 1 malformation. The infant was asymptomatic at the time. The infant was promptly referred to neurosurgery and underwent an uncomplicated ventriculoperitoneal shunt placement. Post-operative X-rays showed increased density of the skull with other bone changes suggestive of autosomal recessive osteopetrosis. Subsequent lab work and imaging studies were consistent with this condition. The diagnosis was confirmed by genetic testing, and the patient has undergone treatment with hematopoietic stem cell transplant.Hydrocephalus is a common feature of this condition, typically seen in conjunction with other systemic symptoms and laboratory findings. Our patient had a limited initial presentation of triventricular hydrocephalus with Chiari I malformation and was otherwise clinically asymptomatic. There is limited literature of such a presentation, and we highlight this case to increase awareness, as timely diagnosis of these patients is critical for treatment and future outcomes.
- Published
- 2021
11. Midterm Outcomes of Heart Transplantation in Children With Genetic Disorders
- Author
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Horacio G. Carvajal, Catherine Gooch, Taylor C. Merritt, J. Chancellor Fox, Anne N. Pourney, Harshini D. Kumaresan, Matthew W. Canter, and Pirooz Eghtesady
- Subjects
Pulmonary and Respiratory Medicine ,Heart Defects, Congenital ,Heart Failure ,Heart Transplantation ,Humans ,Surgery ,Cardiology and Cardiovascular Medicine ,Aneuploidy ,Child ,Retrospective Studies - Abstract
Many congenital heart diseases (CHD) are associated with genetic defects. Children with complex CHD often have heart failure requiring heart transplant. Given the broad spectrum of genetic pathologies and dearth of transplants performed in these children, little is known regarding their outcomes.We conducted a retrospective review of heart transplants performed at a high-volume center from 2007 to 2021. Patients were separated into pathogenic molecular and copy number variants, aneuploidies, and variants of uncertain significance, and compared with patients without known genetic diagnoses. Variables included genetic diagnoses, bridge-to-transplant approach, preoperative comorbidities, operative characteristics, and postoperative complications. Outcomes included intensive care unit-free days to 28 days, hospital mortality, survival, rejection, retransplantation, and educational status at latest follow-up.In all, 223 patients received transplants over the study period: 9.9% (22 of 223) had pathogenic molecular variants; 4.5% (10 of 223) had copy number variants; 1.8% (4 of 223) had aneuploidies; and 9% (20 of 223) had variants of uncertain significance. The most common anomalies were Turner syndrome (n = 3) and 22q11.2 deletion syndrome (n = 2). Children with aneuploidies had higher rates of hepatic dysfunction and hypothyroidism, whereas children with pathogenic copy number variants had higher rates of preoperative gastrostomy and stroke. Children with aneuploidies were intubated longer after transplant, with greater need for reintubation, and had the fewest intensive care unit-free days. Mortality and mean survival did not differ. At median follow-up of 4.4 years (range, 1.9 to 8.8), 89.7% of survivors (26 of 29) with pathogenic anomalies were attending or had graduated school.Despite more preoperative comorbidities, midterm outcomes after heart transplant in children with genetic syndromes and disorders are promising.
- Published
- 2021
12. eP168: A de novo variant in AMOTL1 gene in an adult with craniofacial abnormalities and previously unreported congenital diaphragmatic hernia
- Author
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Paul Lee and Catherine Gooch
- Subjects
Genetics (clinical) - Published
- 2022
13. Understanding the mechanisms of arrhythmia-linked variants in the disordered regions of Nav1.5
- Author
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Emily Wagner, Kiersten Ruff, Catherine Gooch, Jennifer Silva, and Jonathan R. Silva
- Subjects
Biophysics - Published
- 2022
14. Achondroplasia and Hypochondroplasia
- Author
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Nathaniel H. Robin, Akila Subramaniam, and Catherine Gooch
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,medicine ,Hypochondroplasia ,Achondroplasia ,medicine.disease ,business ,reproductive and urinary physiology - Abstract
Many women with skeletal dysplasias, such as achondroplasia and hypochondroplasia, choose to become pregnant. These women and their partners should receive pre-conception genetic counseling. Once the woman becomes pregnant, a multidisciplinary team at a tertiary care hospital should mange her antepartum care and birth process. An anesthesia plan should be in place that addressed kyphosis, weight based medications and the possibility of a Cesarean Section. Patients should be monitored for respiratory compromise from the gravid uterus on a smaller body frame. Neonatology must be available to help care for the infant. With a supportive antepartum and postpartum care plan, most women with skeletal dysplasia do well and resume routine OBGYN care after birth. This review contains 5 figures, and 21 references. Keywords: Maternal Achondroplasia, Maternal Hypochondroplasia, Inheritance patterns, short limb dwarfism, high risk pregnancy, autosomal dominant inheritance
- Published
- 2019
15. Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes
- Author
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Catherine Gooch, Anna C.E. Hurst, and Nathaniel H. Robin
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,Practice Guidelines as Topic ,medicine ,Infant, Newborn ,Humans ,Achondroplasia ,business ,medicine.disease - Published
- 2019
16. Genetic testing hearing loss: The challenge of non syndromic mimics
- Author
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Natasha L. Rudy, Richard J.H. Smith, Nathaniel H. Robin, and Catherine Gooch
- Subjects
Pediatrics ,medicine.medical_specialty ,Hearing loss ,Hearing Loss, Sensorineural ,Genetic counseling ,Deafness ,Congenital hearing loss ,QT interval ,Article ,otorhinolaryngologic diseases ,medicine ,Humans ,Genetic Testing ,Early childhood ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Sequence Analysis, DNA ,General Medicine ,medicine.disease ,Otorhinolaryngology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Jervell-Lange Nielsen Syndrome ,Sensorineural hearing loss ,medicine.symptom ,business ,Non syndromic - Abstract
Congenital hearing loss is a common cause of morbidity in early childhood. There are multiple reasons for congenital hearing impairment, with genetic contribution becoming increasingly recognized. Sensorineural hearing loss has classically been viewed as either syndromic or non-syndromic. With the advent of DNA sequencing technology such as NextGen sequencing, a subcategory has arisen, that of non-syndromic mimics (NSM)s. NSMs present initially as isolated hearing loss but as the patient ages other phenotypes become evident. Early diagnosis of these conditions is imperative as patients may suffer significant morbidity and mortality from complications from their hearing loss syndrome. An example is QT prolongation in Jervell and Lange-Nielsen Syndrome. The need for genetic testing and proper genetic counseling is necessary for patients with hearing loss and testing should be done as early in life as possible.
- Published
- 2021
17. Repeatedly in Rhabdomyolysis
- Author
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Sarah Joy Dean, Catherine Gooch, and Laurie Marzullo
- Subjects
Male ,Weakness ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Exercise intolerance ,Rhabdomyolysis ,Humans ,Medicine ,Glycogen storage disease ,Muscular dystrophy ,Muscle, Skeletal ,Exercise ,Muscle biopsy ,medicine.diagnostic_test ,business.industry ,Myoglobinuria ,General Medicine ,Acute Kidney Injury ,medicine.disease ,Pediatrics, Perinatology and Child Health ,Emergency Medicine ,Glycogen Storage Disease Type V ,medicine.symptom ,business ,Muscle cramp - Abstract
Repeated presentations of a rare symptom in a patient should make a physician stop and evaluate for rare conditions. This is a report of a teenager with multiple episodes of rhabdomyolysis and weakness. He was eventually diagnosed as having McArdle muscular dystrophy, or glycogen storage disease type V. His rhabdomyolysis has been severe, with a creatinine kinase level of >320,000 U/L, myoglobinuria, transaminitis, and elevated bilirubin. He has a low threshold for triggering rhabdomyolysis, such as doing an hour of aerobic exercise 2 days in a row. McArdle disease is a glycogen storage disorder in which the skeletal muscle cannot convert glycogen to glucose. Unlike other glycogen storage disorders, McArdle muscular dystrophy only affects the skeletal muscle, sparing the brain and visceral organs, leading to a vague phenotype. These patients have exercise intolerance, muscle cramps, and rhabdomyolysis. Many patients report loading with simple carbohydrates before exercise, as they have learned that this can increase their stamina. The vague symptoms can lead to decades of delay in diagnosis and significant mismanagement. Rhabdomyolysis is the most dangerous sign of McArdle disease, and it can lead to acute kidney injury, resulting in renal failure requiring dialysis in the severest cases.Rhabdomyolysis has numerous causes, but when it is recurrent, especially with seemingly insignificant triggers, one needs to develop a broader differential and pursue advanced testing. This testing can include specific exercise tests, genetic sequencing, and muscle biopsy. This case report will guide the clinician through the process of evaluating recurrent rhabdomyolysis, working through the differential diagnosis and testing options.1.
- Published
- 2020
18. The Center for Life Skills: An interdisciplinary learning laboratory for allied health students
- Author
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Ctrs Catherine Gooch, Ctrs Janice Elich Monroe, Melinda Cozzolino, Otd, Otr, Ccc-Slp Susan Durnford, and PT Ellie L. Buckley
- Subjects
Medical education ,Interdisciplinary learning ,Center (algebra and category theory) ,General Medicine ,Life skills ,Psychology - Published
- 2008
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