Results 51 to 60 of about 107,934 (310)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Predictors of success of trial of labor after cesarean section: A nested case–control study at public hospitals in Eastern Ethiopia

Women's Health, 2021
Background: One of the primary reasons for an increase in cesarean sections is obstetricians’ uncertainty about labor trial safety following a previous cesarean section. The success rate of vaginal birth after cesarean section with a single cesarean scar
Maleda Tefera, Nega Assefa, Kedir Teji Roba, Letta Gedefa   +3 more
doaj   +1 more source

Parameters in Canines After Cesarean Sections

Frontiers in Veterinary Science, 2022
This study evaluated fertility in canines after cesarean section and compared it with natural parturition. Parameters, such as the time of the next heat after the first parturition or cesarean section, the heat which was used for another breeding attempt,
Theresa Conze, Kathrin Büttner, Axel Wehrend   +2 more
doaj   +1 more source

The midwife factor in obstetric procedures and neonatal outcome [PDF]

, 2002
Aims. In the face of major tendency towards midwiferyled-care it was our purpose to investigate the extent of the influence of the midwife on the rates of obstetric procedures and perinatal outcome. Methods.
Konstantiniuk, P., Kern, I., Giuliani, A., Kainer, F.   +3 more
core   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

May the indication for a previous cesarean section affect the outcome at trial of labor in women with induction of labor? A retrospective cohort study

Acta Obstetricia et Gynecologica Scandinavica
Introduction Cesarean sections are increasing worldwide and are associated with altered risks of complications for both mother and child. Vaginal birth after cesarean section is associated with lower maternal and neonatal morbidity than in repeat ...
Joanna Frykman, Emelie Nilsson, Eva Wiberg‐Itzel, Tove Wallstrom   +3 more
doaj   +1 more source

Cesarean section rates and indications in sub-Saharan Africa: a multi-country study from Medecins sans Frontieres.

, 2012
The World Health Organization considers Cesarean section rates of 5-15% to be the optimal range for targeted provision of this life saving intervention. However, access to safe Cesarean section in resource-limited settings is much lower, estimated at 1-2%
Miguel Trelles, Cortier, H, Cortier, Hilde, Kathryn Chu, Mashant Tshiteng, Chu, K, Trelles Miguel, Maldonado, F, Fernando Maldonado, Chu Kathryn, Ford Nathan, Mashant, Tshiteng, Trelles, Miguel, Ford, N, Ford, Nathan, Maldonado, Fernando, Tshiteng Mashant, Nathan Ford, Chu, Kathryn, Cortier Hilde, Maldonado Fernando, Hilde Cortier, Trelles, M, Mashant, T   +23 more
core   +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

Caesarean section rates in England and Wales: investigating variation between maternity units [PDF]

In England and Wales, the Caesarean section (CS) rate is 21.5%, ranging from 6% to 66% between maternity units. The impact of a high CS rate on women's health and NHS resources is not clear.
Paranjothy, Shantini
core   +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