Results 121 to 130 of about 713,634 (281)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Use of Antihypertensive Agents and Association With Risk of Adverse Outcomes in Chronic Kidney Disease: Focus on Angiotensin-Converting Enzyme Inhibitors and Angiotensin Receptor Blockers. [PDF]

, 2018
Background Our objective was to determine patterns of antihypertensive agent use by stage of chronic kidney disease (CKD) and to evaluate the association between different classes of antihypertensive agents with nonrenal outcomes, especially in advanced ...
Johansen, Kirsten L, Ku, Elaine, Lin, Feng, McCulloch, Charles E, Vittinghoff, Eric   +4 more
core  

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Metabolic and biochemical profiling reveals phenotypic heterogeneity in Zucker diabetic fatty rats

Animal Models and Experimental Medicine, EarlyView.
Genetically uniform Zucker Diabetic Fatty (ZDF) rats spontaneously develop four distinct metabolic phenotypes despite identical housing and diet conditions. Each phenotype exhibits unique biomarker signatures encompassing glucose homeostasis, insulin secretion, polyol pathway activation, oxidative stress, inflammatory cytokines, and neurotrophic ...
Marek Lepáček, Pavol Boďo, Barbora Kaločayová, Marta Šoltésová Prnová   +3 more
wiley   +1 more source

Overview of ADPKD in Pregnancy

Kidney International Reports
Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder that often affects patients in their third to fifth decades of life and is characterized by kidney cysts, chronic kidney disease (CKD), hypertension, and hepatic cysts.
Ruth E. Campbell, Charles L. Edelstein, Michel Chonchol   +2 more
doaj   +1 more source

Resistant hypertension and renal denervation: Who's kidding whom? [PDF]

, 2014
Sever, P
core   +1 more source

Aneurysm Wall Enhancement and Probability of Instability in Unruptured Intracranial Aneurysms: A Long‐Term Follow‐Up Study

Annals of Neurology, EarlyView.
Objective Aneurysm wall enhancement (AWE) may predict aneurysm growth and rupture in the short‐term, but there is a lack of long‐term follow‐up studies. We aimed to determine whether unruptured intracranial aneurysms (UIAs) with AWE have a higher probability of aneurysm instability during long‐term follow‐up compared with those without AWE. Methods For
Laura T. van der Kamp, Maarten J. Kamphuis, Olivier Naggara, Thomas Le Tat, Gabriel J. E. Rinkel, Gérard A. P. de Kort, Ruben P. A. van Eijk, Jeroen Hendrikse, Irene C. van der Schaaf, Mervyn D. I. Vergouwen   +9 more
wiley   +1 more source

The anti-atherogenic effects of thiazolidinediones [PDF]

, 2007
The thiazolidinediones (TZDs) rosiglitazone (ROS) and pioglitazone (PIO) are insulin-sensitising agents widely used to treat patients with type 2 diabetes mellitus (T2DM). Thiazolidinediones significantly improve glycaemic control in diabetics by reduced
Honisett, Suzy, Komesaroff, Paul A, Stojanovska, Lily   +2 more
core  

Hemophagocytic Macrophages in the Peripheral Blood of a Critically Ill Patient With COVID‐19 and RSV Infection

American Journal of Hematology, EarlyView.
Ashik Zala, Ahmed Sadek, Ahmed Elsaid, Ketan C. Patel, Maximiliano Ramia De Cap, Barbara J. Bain   +5 more
wiley   +1 more source