Results 31 to 40 of about 11,951 (196)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Role of l-Arginine in Oligohydramnios [PDF]

The Journal of Obstetrics and Gynecology of India, 2016
Oligohydramnios is a known obstetric complication which is associated with operative interferences and perinatal morbidity and mortality. l-arginine is a precursor of nitric oxide and may play a role in local vasodilatation. Administration of l-arginine has been suggested to improve amniotic fluid index (AFI) in oligohydramnios.To study the effect of l-
Anita, Soni, Seeru, Garg, Khushboo, Patel, Zarna, Patel   +3 more
openaire   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

The Experience of Amnioinfusion for Oligohydramnios During the Early Second Trimester

Taiwanese Journal of Obstetrics & Gynecology, 2007
Objective: In the past, oligohydramnios occurring early during the secondary trimester was the reason to terminate the pregnancy because of poor prognosis. Even though amnioinfusion has been reported for improving the prognosis of the infant, it is still
Tian-Lun Hsu, Te-Yao Hsu, Ching-Chang Tsai, Chia-Yu Ou   +3 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

A Randomized Controlled Trial to Compare the Efficacy of Three Different Methods of Maternal Hydration for Oligohydramnios [PDF]

Journal of Krishna Institute of Medical Sciences University, 2018
Background: Oligohydramnios is defined as an Amniotic Fluid Index (AFI) of less than normal for that gestational age. It is mainly associated with increased perinatal morbidity and mortality due to cord compression, fetal distress, pulmonary hypoplasia ...
Neelamma Patil, Abhigna V
doaj  

Maternal Dipyrone Exposure and Risk of Major Congenital Malformations, Adverse Perinatal and Postnatal Outcomes: A Population‐Based Cohort Study

Clinical Pharmacology &Therapeutics, EarlyView.
Pain and fever are common in pregnancy. Dipyrone is widely used in Europe, Latin America, and parts of Asia, but is banned in other countries due to concerns about agranulocytosis. Evidence on its safety in pregnancy remains limited and inconsistent. This study aimed to evaluate whether maternal dipyrone use during the first‐ and third‐trimesters is ...
Itamar Ben Shitrit, Daphna Idan, Ariel Avraham Hasidim, Tal Michael, Amalia Levy, Gali Pariente, Eitan Lunenfeld, Sharon Daniel   +7 more
wiley   +1 more source

The rising tide: Trends in induction of labor at term over a 5‐year period at a single centre

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 383-390, April 2025.
Abstract Objective Induction of labor (IOL) is a controversial topic in contemporary obstetric practice, with some suggesting that the increase in elective induction (eIOL) as a potential contributor to increasing cesarean delivery (CD) rates. The objectives of this single‐center study were to examine the rates of IOL, trends in indications for IOL ...
Sarah M. Nicholson, Susan Hatt, Etaoin M. Kent, Michael P. Geary, Patrick Dicker, Zara E. Molphy, Karen Flood, Fergal D. Malone   +7 more
wiley   +1 more source

“Does severity of isolated oligohydramnios at term matter?”

The Journal of Maternal-Fetal & Neonatal Medicine
Objective To examine the correlation between the severity of isolated oligohydramnios at term and adverse perinatal outcomes, aiming to inform clinical management strategies.Study design This retrospective cohort study conducted at a tertiary university ...
Nadir Ganem, Shireen Hinow, Rola Khamisy-Farah, Ziada Gzayev, Marwan Odeh, Lior Lowenstein, Inshirah Sgayer   +6 more
doaj   +1 more source