Results 51 to 60 of about 144,068 (308)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Metformin: A promising option for the management of gestational diabetes mellitus – Exploring the benefits, challenges and clinical needs in the current management of gestational diabetes mellitus [PDF]

, 2022
Beenu Bastian, Lisa G. Smithers, Warren S. Davis, Alexia Pape, Monique E. François   +4 more
openalex   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Adropin modulates pancreatic cell proliferation and glutathione levels in an animal model of type 1 diabetes mellitus

Animal Models and Experimental Medicine, EarlyView.
Adropin is related to the energy homeostasis‐associated gene. It significantly increased glutathione reductase enzyme levels in the pancreas of experimental diabetic rats. Adropin may reduce the severity of diabetes and its complications. Cell proliferation in the exocrine is reduced after the administration of adropin.
Ifrah I. Ali, Crystal D'Souza, Abderrahim Nemmar, Shreesh Ojha, Ernest A. Adeghate   +4 more
wiley   +1 more source

Multimorbidity and animal models

Animal Models and Experimental Medicine, EarlyView.
Multimorbidity, defined as the coexistence of ≥2 chronic conditions, is associated with aging, genetics, and environmental factors. Animal models in multimorbidity research span three tiers: simple organisms for initial screening → rodents for mechanistic analysis → large mammals for clinical prediction.
Xinpei Wang, Yakun Ren, Xingjiu Yang, Mengyuan Li, Junxiu Liu, Xiaoyan Du, Wen Wang, Ran Gao   +7 more
wiley   +1 more source

World Health Organization Versus Diabetes in Pregnancy Study Group India Approaches in the Screening of Gestational Diabetes Among Pregnant Women With Risk Factors: A Study Among Rural Population of Telangana, South India [PDF]

, 2022
Ayesha Jabeen, Amtul Rahman Amberina, Ahlad Sreedhrala, Dinesh Eshwar Mummareddi, Gulam Saidunnisa Begum   +4 more
openalex   +1 more source

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

Annals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy, Vanina Tchuente, Sherif Eltonsy, Steven Hawken, Padma Kaul, Mark Walker, Michael Pugliese, Roxana Dragan, Anamaria Savu, Lisiane Leal, Lucie Morin, Isabelle Malhamé, Raluca Pana, Anick Bérard   +13 more
wiley   +1 more source

PATHOPHYSIOLOGY OF GESTATIONAL DIABETES MELLITUS

European Medical Journal Diabetes, 2019
Gestational diabetes mellitus (GDM) is a pregnancy complication defined as a glucose intolerance of varying severity with onset or first recognition during pregnancy. The prevalence of GDM is growing rapidly worldwide.
Zehra Berberoglu
doaj  

Serious Infections in Offspring Exposed to Tumor Necrosis Factor Inhibitors During Pregnancy: Comparison of Timing During Pregnancy and Placental Transfer Ability

Arthritis &Rheumatology, EarlyView.
Objective We evaluated serious infection risk in offspring exposed to tumor necrosis factor inhibitors (TNFi) in utero, separated by TNFi timing and placental transfer ability. Methods Using MarketScan (2011–2021), we identified offspring born to mothers with chronic inflammatory diseases.
Leah K. Flatman, Sasha Bernatsky, Yvan St‐Pierre, Marie‐Eve Beauchamp, Isabelle Malhamé, Anick Bérard, Évelyne Vinet   +6 more
wiley   +1 more source