Results 71 to 80 of about 161,783 (341)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1 [PDF]

, 1906
We are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert’s disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas.
Akamine, Ricardo Tera, Grossklauss, Luís Fernando, Moreira, Gustavo Antonio, Pradella-Hallinan, Marcia, Chiéia, Marco Antônio, Mesquita, Denis, Bulle Oliveira, Acary Souza, Tufik, Sergio   +7 more
core   +2 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Sleep Architecture in Night Shift Workers Police Officers with Obstructive Sleep Apnea-hypopnea Syndrome [PDF]

Sleep Science
Introduction: Reduced sleep to increase work hours is common among police officers, when this situation is combined with Obstructive sleep apnea/hypopnea syndrome (OSAHS), health consequences are greater, therefore we believe there is a
Selene Verde-Tinoco, Rafael Santana-Miranda, Romel Gutiérrez-Escobar, Reyes Haro, Joana Miranda-Ortiz, Talia Berruga-Fernandez, Ulises Jimenez-Correa, Adrián Poblano   +7 more
doaj   +1 more source

Association of Obstructive Sleep Apnea With Cardiovascular Outcomes in Patients With Acute Coronary Syndrome. [PDF]

, 2019
Background The prognostic significance of obstructive sleep apnea ( OSA ) in patients with acute coronary syndrome ( ACS ) in the contemporary era is unclear.
Fan, Jingyao, Ma, Xin-Liang, Nie, Shaoping, Somers, Virend K., Wang, Xiao, Wei, Yongxiang   +5 more
core   +1 more source

Semi-Automated Nasal PAP Mask Sizing using Facial Photographs

, 2017
We present a semi-automated system for sizing nasal Positive Airway Pressure (PAP) masks based upon a neural network model that was trained with facial photographs of both PAP mask users and non-users.
de Chazal, Philip, Johnston, Benjamin, McEwan, Alistair   +2 more
core   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Prevalence of Obstructive Sleep Apnea in 6–9-Year-Old Children of Visnagar: A Cross-Sectional Study [PDF]

Sleep Medicine Research
Background and Objective The prevalence of sleep-disordered breathing is extremely high, yet it is largely ignored. Significant adverse medical and psychological outcomes are associated with sleep-related respiratory disorders, including obstructive ...
Shoba Fernandes, Zeel Shah, Swetal Agrawal, Yash Bafna, Dharati Patel, Dimpal Parmar   +5 more
doaj   +1 more source