Results 61 to 70 of about 57,466 (278)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Development of fetal growth charts in twins stratified by chorionicity and mode of conception: a retrospective cohort study in China

Chinese Medical Journal, 2021
. Background:. Twin pregnancies continue to increase worldwide; however, the current clinical prenatal evaluation for the intrauterine growth of twins still relies on the growth standards of singletons.
Yuan-Qing Xia, Shu-Ping Lyu, Jun Zhang, Yi-Ting Chen, Li Gao, An-Da Zhao, Yan-Lin Wang, Sheng-Hui Li, Jing Ni   +8 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Society for Maternal‐Fetal Medicine Special Statement: Updated checklists for management of monochorionic twin pregnancy

Pregnancy
Approximately 20% of twin pregnancies are monochorionic—either monochorionic/diamniotic (MC/DA) or monochorionic/monoamniotic (MC/MA). The management of monochorionic twin pregnancy involves several additional interventions beyond the routine management ...
Society for Maternal‐Fetal Medicine (SMFM), Ruofan Yao, Iffath Abbasi Hoskins, C. Andrew Combs, SMFM Patient Safety and Quality Committee   +4 more
doaj   +1 more source

First-trimester calculated remnant cholesterol and gestational diabetes mellitus in twin pregnancies: a retrospective cohort study

Frontiers in Endocrinology
BackgroundGestational diabetes mellitus (GDM) is particularly prevalent in twin pregnancies, yet the underlying metabolic pathways remain incompletely elucidated.
Kejun Ye, Yixin Chen, Lin Lin, Ruru Jia, Chen Yingjie, Mengjia Peng   +5 more
doaj   +1 more source

Follicle Stimulating Hormone in Cattle Breeding: Fundamentals, Innovations, and Scope

Animal Research and One Health, EarlyView.
FSH is crucial in cattle reproduction, with exogenous administration enhancing breeding and embryo production. Recombinant FSH offers advantages over pituitary‐extracted variants, including fewer injections, reduced stress, and safer production. These innovations improve breeding efficiency, optimize reproductive outcomes, and contribute to sustainable
Muhammad Shahzad, Hubdar Ali Kolachi, Jesse Oluwaseun Ayantoye, Xiaomeng Zhang, Muhammad Usman Mehmood, Rajilan Hilali Shanga, Pengcheng Wan, Xueming Zhao   +7 more
wiley   +1 more source

Establishment of Humanized EFNB2/B3 Murine Models for Investigating Nipah Virus Pathogenesis

Animal Research and One Health, EarlyView.
ABSTRACT Nipah virus (NiV) is a zoonotic paramyxovirus classified as a WHO priority pathogen, which causes severe respiratory disease and encephalitis in humans with high mortality. Currently, no licensed vaccines or specific antiviral therapies are available.
Wei Dong, Ning Liu, Weining Kong, Xiang Gao, Feifei Guan, Shan Gao, Yuanwu Ma   +6 more
wiley   +1 more source

Twin pregnancy with intrauterine death of one twin

MRIMS Journal of Health Sciences, 2020
Antepartum death of one twin is an infrequent obstetric complication. It complicates about 6% of twin pregnancies. Death of one twin in second or third trimester is more deleterious with risk for the surviving twin and also risk of disseminated ...
Ipsita Mohapatra, Vaishnavi Ponnam, Subha Ranjan Samantaray, Achanta Vivevak   +3 more
doaj   +1 more source

Histamine and the mechanisms of nausea and vomiting: Translating the uncertain pharmacology of cyclizine

British Journal of Clinical Pharmacology, EarlyView.
Abstract Cyclizine is a long‐established, short‐acting drug, registered for preventing motion sickness, post‐operative nausea and vomiting (PONV) and ‘vomiting of known cause’. The latter is not defined but may include pregnancy and patients receiving palliative care, historically accepted without large, controlled trials.
Gareth J. Sanger, Paul L. R. Andrews
wiley   +1 more source