Results 91 to 100 of about 122,451 (285)

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

A Rapid Assessment of the Quality of Neonatal Healthcare in Kilimanjaro Region, Northeast Tanzania. [PDF]

, 2012
While child mortality is declining in Africa there has been no evidence of a comparable reduction in neonatal mortality. The quality of inpatient neonatal care is likely a contributing factor but data from resource limited settings are few. The objective
AB Pembe, AS Nyamtema, Bernard Mbwele, C Klingenberg, C Opondo, CA Petti, CA Petti, CR Polage, D Acolet, DE Dow, E Ahman, Elizabeth Reddy, H Reyburn, HL Kidanto, HL Kidanto, Hugh Reyburn, J Newman, JE Lawn, JE Lawn, JK Rajaratnam, JM Belizan, K Gross, K Gross, K Manji, L Liu, LF Mott, M English, M English, M Mrisho, M Sarker, N Iriya, N Opiyo, R Lozano, SC Anyangwe, SG Hinderaker, SK Gaise, T Duke, UNICEF, United Nations Development Programme UNDP Tanzania, World Health Organization, World Health Organization, World Health Organization, ZA Bhutta   +42 more
core   +2 more sources

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Tamponamento cardíaco por cateter central de inserção periférica em prematuros: papel da ultrassonografia à beira do leito e abordagem terapêutica.

Revista do Colégio Brasileiro de Cirurgiões, 2018
RESUMO Objetivo: determinar a incidência de derrame pericárdico com tamponamento cardíaco em recém-natos prematuros em uma unidade de terapia intensiva pediátrica, com ênfase na relação entre o derrame pericárdico e a inserção de cateter central de ...
Livia Lopes Barreiros, Filipe Moreira de Andrade, Ronaldo Afonso Torres, Lucas Vilas Boas Magalhães, Bruno dos Santos Farnetano, Rossano Kepler Alvim Fiorelli   +5 more
doaj   +1 more source

Enabling precision medicine in neonatology, an integrated repository for preterm birth research. [PDF]

, 2018
Preterm birth, or the delivery of an infant prior to 37 weeks of gestation, is a significant cause of infant morbidity and mortality. In the last decade, the advent and continued development of molecular profiling technologies has enabled researchers to ...
Anderson, Rebecca, Banerjee, Payal, Butte, Atul J, Chappell, Joanne, Chubiz, Jessica, England, Sarah K, Grobman, William, Kim, Mara, Leite, Rita, Liu, Rebecca, March of Dimes Prematurity Research Centers, Parry, Samuel, Quaintance, Cecele C, Rokas, Antonis, Shaw, Gary M, Simpson, Joe Leigh, Sirota, Marina, Thomas, Cristel G, Thomson, Elizabeth, Wong, Ronald J, Zhang, Ge, Zuhl, Maya   +21 more
core   +1 more source

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

Annals of Neurology, EarlyView.
SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...
Nathan Routledge, Maxime Lammens, Reza Maroofian, Bakht Beland, David Murphy, Asif Mir, Zia Ullah, Javeria Reza Alvi, Tipu Sultan, Stephanie Efthymiou, Frank Bosmans, Henry Houlden   +11 more
wiley   +1 more source

Pregnancy outcomes in women with systemic sclerosis before and/or after diagnosis, and by parity ‐ A Swedish population‐based cohort study

Arthritis &Rheumatology, Accepted Article.
Objective To assess risks of adverse pregnancy outcomes (APO) in a contemporary cohort of women with systemic sclerosis (SSc) in relation to the timing of SSc diagnosis and by parity. Methods From the nationwide Swedish Medical Birth Register, we assembled pregnancies with births in women with SSc and in comparator women from the general population ...
Weng Ian Che, Luigi Annicchiarico, Laura Andreoli, Olof Stephansson, Marie Holmqvist, Karin Hellgren   +5 more
wiley   +1 more source