Results 41 to 50 of about 69,264 (288)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Familial idiopathic short stature and beyond: a case-report of a novel heterozygous NPR2 mutation.

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
Background: NPR2 gene encodes for B-type natriuretic peptide receptor (NPR-B), a positive regulator of the growth plate. Recently, heterozygous NPR2 mutations were reported in 2–6% cases of idiopathic short stature (ISS) and 13.6% of familial ISS ...
Ylenia Giorgianni, Cecilia Lugarà, Francesca Franchina, Mariella Valenzise, Giorgia Pepe, Tommaso Aversa   +5 more
doaj   +1 more source

PSYNDEX Tests Review für QoLISSY - Quality of Life in Short Stature Youth Questionnaire - deutsche Fassung

, 2015
This is a PSYNDEX Tests Review of QoLISSY - Quality of Life in Short Stature Youth Questionnaire - deutsche Fassung. PSYNDEX Tests Reviews are written in German and describe and evaluate psychological and educational tests used in the German-speaking ...
Gorges, Johannes F.
core   +1 more source

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

Health disparities in chronic liver disease

Hepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

The Etiological Spectrum OF Short Stature among Children Attending Endocrine Clinic at Tertiary Care Hospital [PDF]

Liaquat National Journal of Primary Care
Background: One of the most frequent reasons for referral to pediatric endocrinology units is short stature. Children’s short height has a complicated etiology that includes genetics, race, gender, nutrition, and several endocrine hormones.
Hira Urooj Iqbal, Mohsina Ibrahim, Kulsoom Shabbir, Zara Shaukat   +3 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 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

Etiological factors of short stature in children and adolescents: experience at a tertiary care hospital in Egypt

Therapeutic Advances in Endocrinology and Metabolism, 2017
Background: Accurate anthropometric measurements and critical analysis of growth data allow the clinician to promptly recognize children with short stature. The aim of this study was to determine the frequency of etiological factors causing short stature
Almontaser Hussein, Hekma Farghaly, Eman Askar, Kotb Metwalley, Khaled Saad, Asmaa Zahran, Hisham A. Othman   +6 more
doaj   +1 more source