Results 21 to 30 of about 58,659 (263)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Caesarean section in a primary health facility in Ghana: Clinical indications and feto-maternal outcomes

Journal of Public Health in Africa, 2017
There is great concern about the increasing rise in the rate of caesarean section in both developed and developing countries. This study was to ascertain the prevalence and compare outcomes of elective and emergency caesarean sections among women who ...
James Prah, Andreas Kudom, Alex Afrifa, Mohammed Abdulai, Ignatius Sirikyi, Emmanuel Abu   +5 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Impact of Caesarean Audit on Caesarean Section Rates using Robson Classification: A Retrospective Observational Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: The World Health Organisation (WHO) recommends an optimal caesarean section rate of no more than 15%. A caesarean audit can identify the changing trends in caesarean section indications and reduce the rates by improving obstetric care ...
Yazhini Arjunan, S Swathi, KP Mohana Sundari   +2 more
doaj   +1 more source

Vaginal delivery after caesarean section and its associated factors in Mizan Tepi University Teaching Hospital, Southwest Ethiopia

Heliyon, 2021
Background: Vaginal birth after caesarean section is appropriate for a majority of women who have had a single prior lower segment caesarean section. However, little is known about vaginal birth after caesarean section in Ethiopia. Thus, this study aimed
Yeabsira Girma, Zerihun Menlkalew, Alemnew Destaw   +2 more
doaj   +1 more source

Real‐World Trends in Prenatal Antirheumatic Drug Utilization in Ontario, Canada: A Cross‐Sectional Time‐Series Analysis

Arthritis Care &Research, EarlyView.
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J. T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source

Analyzing caesarean sections through the Robson classification in Nigeria: a prospective nationwide study in referral level facilitiesResearch in context

EClinicalMedicine
Summary: Background: Over the past 30 years, there has been increased concern on rising caesarean section rates. However, the absence of reliable data on appropriateness of caesarean section for women in many countries, including Nigeria, poses a ...
Tina Lavin, Amaka N. Ocheke, Ana Pilar Betran, Abiodun S. Adeniran, Eziamaka Ezenkwele, Duum C. Nwachukwu, Luz Gibbons, Aisha Abdurrahman, Sulaiman Muhammad Deneji, Akpanika Chinyere, Adewale Ashimi, Rais Ibraheem, Odward Elusoji Jagun, Innocent Anayochukwu Ugwu, Olufemi Aworinde, Agada Egwu, Sunday Ochigbo, Timothy A.O. Oluwasola, Aniekan Abasiattai, Anthonia Inibokun Njoku, Lawal Magaji, Peter Aboyeji, Hadiza Galadanci, Calvin Chama, Saturday Etuk, Joseph Ikechebelu, Olubukola Adesina, Jamilu Tukur   +27 more
doaj   +1 more source

Trends, Demographic Characteristics and Seasonal Patterns of Rectal Prolapse Surgery in Japan: A Nationwide Claims‐Based Analysis From 2014 to 2023

Annals of Gastroenterological Surgery, EarlyView.
This study analyzed nationwide trends, demographic characteristics, and seasonal patterns of rectal prolapse surgery in Japan using healthcare claims data. From 2014 to 2023, age‐adjusted overall and conventional surgeries declined significantly, whereas laparoscopic surgeries increased significantly.
Masamitsu Kido, Tomohiro Arita, Hiroki Shimizu, Jun Kiuchi, Kenji Nanishi, Katsutoshi Shoda, Hiroyuki Okimura, Atsuko Fujihara, Kengo Yoshii, Atsushi Shiozaki   +9 more
wiley   +1 more source

Contribution of women's preference to the overuse of caesarean sections: A propensity score matching analysis based on a multi-country cross-sectional survey, as part of the QUALI-DEC project.

PLoS ONE
IntroductionMaternal request for caesarean section has often been cited to justify the increasing caesarean section rates worldwide. However, we lack evidence on the impact of women's preference for caesarean section on this dramatic tendency.
Camille Etcheverry, Ana Pilar Betrán, Marion Ravit, Charles Kaboré, Pisake Lumbiganon, Guillermo Carroli, Quoc Nhu Hung Mac, Celina Gialdini, Alexandre Dumont, QUALI-DEC research group   +9 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