Results 51 to 60 of about 2,702,629 (337)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Prevention of hypotension after spinal anaesthesia for caesarean section: a systematic review and network meta‐analysis of randomised controlled trials

Anaesthesia, 2019
Spinal anaesthesia for caesarean section commonly causes maternal hypotension. This systematic review and network meta‐analysis compared methods to prevent hypotension in women receiving spinal anaesthesia for caesarean section.
J. P. Fitzgerald, K. Fedoruk, S. Jadin, Brendan Carvalho, Stephen H. Halpern   +4 more
semanticscholar   +1 more source

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

Indications for Caesarean Section and its Fetal and Maternal Outcome in a Teaching Hospital, Province Five, Nepal

Journal of Karnali Academy of Health Sciences, 2020
Introduction: Cesarean section (CS) is an operative technique by which a fetus is delivered through an abdominal and uterine incision and is effective in saving maternal and infant lives but caesarean section rates higher than 10% are not associated ...
Asha Panth, Sarswoti Kumari Gautam, Sunita Acharya   +2 more
doaj  

Relaxation of the one child policy and trends in caesarean section rates and birth outcomes in China between 2012 and 2016: observational study of nearly seven million health facility births

British medical journal, 2018
Objective To examine how the relaxation of the one child policy and policies to reduce caesarean section rates might have affected trends over time in caesarean section rates and perinatal and pregnancy related mortality in China.
Juan Liang, Yi Mu, Xiaohong Li, Wen Tang, Yan-ping Wang, Zheng Liu, Xiaona Huang, R. Scherpbier, Su-fang Guo, Ming-rong Li, L. Dai, Kui Deng, Changfei Deng, Qi Li, L. Kang, Jun Zhu, C. Ronsmans   +16 more
semanticscholar   +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

Study of Primary Caesarean Section in Multiparous Women in Central India [PDF]

Journal of Krishna Institute of Medical Sciences University, 2020
Background: Primary caesarean section in multipara refers to first time caesarean section in multiparous women who have had previous one or more vaginal delivery.
Savita Somalwar, Romi Bansal
doaj  

Spatial and hierarchical Bayesian analysis to identify factors associated with caesarean delivery use in Ethiopia: Evidence from national population and health facility data.

PLoS ONE, 2022
BackgroundCaesarean section has a significant role in reducing maternal and neonatal mortality. A linked analysis of population and health facility data is valuable to map and identify caesarean section use and associated factors.
Teketo Kassaw Tegegne, Catherine Chojenta, Theodros Getachew, Roger Smith, Deborah Loxton   +4 more
doaj   +1 more source

TUBA1A‐related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures

Epileptic Disorders, EarlyView.
Abstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Andy Cheuk‐Him Ng, Morris H. Scantlebury   +1 more
wiley   +1 more source

Prevalence and determinants of caesarean section in South and South-East Asian women

bioRxiv, 2019
Background Caesarean section is considered a preferable and safe method of delivery. In the last decade, its prevalence has increased in both developed and developing countries.
Vivek Verma, R. Vishwakarma, D. C. Nath, Omer Abid, R. Prakash   +4 more
semanticscholar   +1 more source