Results 21 to 30 of about 132,939 (242)

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Pharmacokinetics of betamethasone in pre‐eclampsia: An in vivo and ex vivo study

British Journal of Clinical Pharmacology, EarlyView.
Aims To enhance understanding of betamethasone and its metabolites' pharmacokinetics in pregnancy, specifically early‐onset pre‐eclampsia, through a population pharmacokinetic model. Additionally, to investigate the placental metabolism and transfer of betamethasone and its main metabolites.
Sam Schoenmakers, Letao Li, Anna C. M. Kluivers, Michelle Broekhuizen, Madhavi S. Harhangi, A. H. Jan Danser, Irwin Reiss, Karel Allegaert, Sjoerd A. A. van den Berg, Bertrand D. van Zelst, Ron H. N. van Schaik, Philip L. J. DeKoninck, Emma Ronde, Sebastiaan D. T. Sassen, Sinno H. P. Simons, Birgit C. P. Koch   +15 more
wiley   +1 more source

Pregnancy outcome during the bombing of Yugoslavia from Mart 24 to June 9, 1999 [PDF]

, 2006
Background/Aim. The aim of this study was to evaluate pregnancy outcome during the bombing of Yugoslavia in the period from March 24 to June 9, 1999. Methods.
Krstić Dragan, Krstić Jelena, Marinković Darko, Mirković Ljiljana   +3 more
core   +1 more source

“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic weakness with or without associated complex neurological symptoms.
Qingqing Wang, Manikum Moodley
wiley   +1 more source

Obstetric Nurses’ Perceived Barriers to Immediate Skin to Skin Contact after Cesarean Birth [PDF]

, 2018
Despite the strong evidence supporting immediate skin to skin contact (SSC) after birth, research suggests that patients who undergo cesarean births do not have the same opportunities for SSC as patients who undergo vaginal births.
Balatero, Joelene Sarmiento
core   +1 more source

Analytical study on indications of primary cesarean section in tertiary care hospital [PDF]

, 2019
Background: Cesarean delivery is a commonest obstetric surgical procedure performed. WHO stated that regional cesarean section rate should not exceed 10 to 15%. However in many countries cesarean delivery has increased steadily over years.
B., Asha M., Ballu, Arpitha S.
core   +2 more sources

Prenatal and Early Childhood Exposure to Antibiotics or Gastric Acid Inhibitors and Increased Risk of Epilepsy: A Nationwide Population‐Based Study

Clinical Pharmacology &Therapeutics, EarlyView.
Over 10 million children in the world have epilepsy, with an unknown cause in half of the cases. The gut microbiome has been associated with various neurological disorders, and certain drugs greatly disturb the microbiome. Our aim was to study the association of prenatal and childhood exposure (before the age of two) to antibiotics, proton pump ...
Unnur Gudnadottir, Ronny Wickström, Anna Gunnerbeck, Stefanie Prast‐Nielsen, Nele Brusselaers   +4 more
wiley   +1 more source

Maternal views and experiences regarding repeat Caesarean section [PDF]

, 2015
Objective: The aim was to determine maternal views and experiences regarding repeat caesarean section.Methods: A pretested and validated semi‑structured questionnaire was administered to women with prior cesarean section by trained research assistants ...
Aduloju, OP, Atiba, BP, Ogundare, OR, Olaogun, OD, Olofinbiyi, BA, Olofinbiyi, RO   +5 more
core   +2 more sources

Indication and complication of caesarean section at tertiary care hospital: a retrospective study [PDF]

, 2019
Background: The incidence of cesarean section is steadily rising. Cesarean delivery has played a major role in lowering both maternal and perinatal morbidity and mortality rates.  There are various factors involved in the rise of rate of cesarean section
Gul, Hiba, Ur Rehman, Bilal
core   +2 more sources

Phenotype and surgical management of drug‐resistant epilepsy in patients with COL4A1 and COL4A2 variants

Epilepsia Open, EarlyView.
Abstract Objective To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2‐related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery. Methods We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4
Jie Shi, Jiuluan Lin, Jianjun Bai, Haixiang Wang, Bingqing Zhang, Qian Feng, Zhaohui Sun, Yiou Liu, Jing He, Xiancheng Song, Siyu Wang, Xiaoyan Liu, Wenjing Zhou   +12 more
wiley   +1 more source