Results 121 to 130 of about 1,061,223 (312)

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

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Physiological and perceptual responses during self-regulated exercise in children with cystic fibrosis [PDF]

, 2011
Purpose: To examine the physiological and perceptual responses during self-regulated exercise in children with cystic fibrosis (CF). Methods: Twelve children (10.8 ± 2.0 y) with CF made 3 separate visits to the research laboratory in the school of ...
Britton, Fionnuala
core  

Comparison of the diagnostic accuracy of three rapid tests for the serodiagnosis of hepatic cystic echinococcosis in humans [PDF]

, 2016
BACKGROUND: The diagnosis of cystic echinococcosis (CE) is based primarily on imaging, in particular with ultrasound for abdominal CE, complemented by serology when imaging results are unclear. In rural endemic areas, where expertise in ultrasound may be
Ilaria Covini (1804441), Francesca Tamarozzi, Enrico Brunetti (217471), Tinelli, Carmine, Andreas Neumayr, Federica Manzoni, Annalisa De Silvestri, Annalisa De Silvestri (349861), Brunetti, Enrico, Casulli, Adriano, Neumayr, Andreas, Manzoni, Federica, Enrico Brunetti, Federica Manzoni (1804465), Roberta Narra, Andreas Neumayr (198330), Tamarozzi, Francesca, Ito, Akira, Akira Ito (301479), Mariconti, Mara, Mara Mariconti, Carmine Tinelli (25846), Akira Ito, Covini, Ilaria, Carmine Tinelli, De Silvestri, Annalisa, Mara Mariconti (615339), Ilaria Covini, Adriano Casulli (1804456), Adriano Casulli, Narra, Roberta, Francesca Tamarozzi (217449), Roberta Narra (1804438)   +32 more
core   +1 more source

Economic evaluation of cystic fibrosis screening: A Review of the literature, CHERE Working Paper 2006/6 [PDF]

Objectives: To critically examine the economic evidence on Cystic Fibrosis (CF) screening and to understand issues relating to the transferability of findings to the Australian context for policy decisions.
Muralikrishnan Radhakrishnan, Kees van Gool, Martin Delatycki, Jane Hall, John Massie   +4 more
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Comparison of NONMEM and pmetrics analysis for aminoglycosides in adult patients with cystic fibrosis

, 2013
The aim of this study was to compare the performance of parametric and nonparametric approaches in population pharmacokinetic analysis for cystic fibrosis patients. The study involved a retrospective analysis of a database of aminoglycoside concentration
Thomson, Alison
core  

Sclerotherapy for a Simple Renal Cyst Causing Hydronephrosis: A Case Report

대한영상의학회지, 2017
A simple renal cyst usually remains asymptomatic and requires no invasive treatment. Occasionally, however, some cysts may cause pain, hematuria, hypertension, or obstruction of the collecting system. We describe a case of a 50-year-old man who presented
Ji Hun Kang, Sang Woo Park, Il Soo Chang, Jin Ho Hwang, Sung Il Jung   +4 more
doaj   +1 more source