Results 41 to 50 of about 56,758 (196)

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Caesarean Section During Second Stage of Labor in a Tertiary Centre

Journal of Nepal Health Research Council, 2017
Background: There is an alarming rise in caesarean section leading to increased adverse outcomes for both the mother and fetus when compared with vaginal delivery. Within this increasing caesarean section rate, there is a concerning increase in the rate
Padma Gurung, Sameer Malla, Sushma Lama, Anagha Malla, Alka Singh   +4 more
doaj   +1 more source

Cesarean section in Uruguay from 2008 to 2018: country analysis based on the Robson classification. An observational study

BMC Pregnancy and Childbirth, 2022
Background The use of caesarean section has steadily increased, with Latin America being the region with the highest rates. Multiple factors account for that increase and the Robson classification is appropriate to compare determinants at the clinical ...
Mercedes Colomar, Valentina Colistro, Claudio Sosa, Luis Andres de Francisco, Ana Pilar Betrán, Suzanne Serruya, Bremen De Mucio   +6 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 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  

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

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source

Mixed Evidence for Impact of Early Infant Gut Microbiome and Later Development of Autism Spectrum Disorder in the MARBLES Prospective Cohort Study

Autism Research, EarlyView.
ABSTRACT This study investigated the relationship between early infant gut microbiome composition and subsequent neurodevelopmental outcomes. Fecal samples from children in the markers of autism risks in babies‐learning early signs (MARBLES) study, a cohort with elevated likelihood of autism, were collected between 0 and 7 months of age and analyzed ...
Jennie Sotelo‐Orozco, Diana H. Taft, Jassim Al‐Oboudi, Brittany C. Baikie, Cailyn Lake, Meghan Miller, David A. Mills, Daniel J. Tancredi, Rebecca J. Schmidt, Irva Hertz‐Picciotto, Deborah H. Bennett   +10 more
wiley   +1 more source

Tacrolimus exposure during pregnancy in kidney and liver transplantation recipients: A comparison between whole blood and plasma concentration‐to‐dose ratios

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Tacrolimus monitoring is generally performed in whole blood (WB). Most (>85%) of circulating tacrolimus is bound to red blood cells. During pregnancy, WB monitoring might be suboptimal because of physiological changes including increased plasma volume and decreased haematocrit.
Jildau R. Meinderts, Paola Mian, Frederike G. I. van Vilsteren, Karien M. H. van de Wetering, Jelmer R. Prins, Stefan P. Berger, Daan J. Touw, Margriet F. C. de Jong   +7 more
wiley   +1 more source