Results 51 to 60 of about 12,408 (235)

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

Indications and rate of primary cesarean sections in a tertiary maternity hospital in southwestern Tanzania: A cross-sectional study

open access: yesInternational Journal of Africa Nursing Sciences
Introduction: Primary cesarean section (PCS) rates are increasing globally, including in low-resource settings. Understanding the indications and determinants of PCS in referral hospitals is key to improving intrapartum decisions and maternal outcomes ...
Agapiti H. Chuwa, Maguzu L. Nganga
doaj   +1 more source

Perinatal consequences of a category 1 caesarean section at term

open access: yesBMJ Open, 2015
Objective To characterise maternal demographics, obstetric risk factors and neonatal outcomes associated with term category 1 caesarean sections (CS).Design and setting and main outcome measures Retrospective study of term singleton pregnancies ...
Sailesh Kumar   +2 more
doaj   +1 more source

Severe neonatal anemia: looking at the whole picture

open access: yesJournal of Pediatric and Neonatal Individualized Medicine, 2023
Neonatal anemia is an important cause of newborn morbimortality. Its causes fall into three categories: hemorrhagic, hemolytic or hypoplastic. Prompt recognition and acute care are crucial for good outcomes.
Maria Sousa Dias   +5 more
doaj   +1 more source

Nationwide Temporal Trends in Adverse Pregnancy Outcomes and Treatments in Systemic Lupus Erythematosus Pregnancy Over Two Decades in Sweden

open access: yesArthritis &Rheumatology, EarlyView.
Objective This nationwide descriptive study examined temporal trends in adverse pregnancy outcomes (APOs) and treatments in systemic lupus erythematosus (SLE) pregnancies in Sweden over 2003 to 2022. Methods Using nationwide Swedish registers, we identified 1,417 pregnancies of women with prevalent SLE and delivery dates in 2003 to 2022 and matched ...
Ngoc V. Nguyen   +6 more
wiley   +1 more source

Acute fatty liver during pregnancy and gestational diabetes insipidus: a case report

open access: yesClinical and Experimental Obstetrics & Gynecology, 2020
Acute fatty liver during pregnancy (AFLP) is an emergency and potentially fatal condition occurring during the peripartum period. It is characterized by fatty microvascular infiltration of hepatocytes and has an incidence rate of approximately one in 7 ...
H.J. Wang, T.H. Chou, Y.C. Lee, H.K. Au
doaj   +1 more source

Pregnancy‐related effect on elexacaftor, tezacaftor and ivacaftor pharmacokinetics in women with cystic fibrosis

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aim The number of pregnancies among women with cystic fibrosis (wwCF) has steadily increased over the past decade. However, the pharmacokinetics (PK) of elexacaftor–tezacaftor–ivacaftor (ETI) during gestation remains uncharacterized, despite its widespread use in this population.
Paulette Magnas   +16 more
wiley   +1 more source

C4d Deposition in Fetal Vessels of the Placenta in Neonatal Lupus Syndrome

open access: yesCase Reports in Obstetrics and Gynecology, 2019
Neonatal lupus syndrome (NLS) is a rare, passively acquired autoimmune syndrome caused by maternal autoantibodies. We describe a case of a newborn with NLS and the accompanying placental findings.
Yuichiro Sato   +10 more
doaj   +1 more source

Cesarean Section and Subsequent Stillbirth, Is Confounding by Indication Responsible for the Apparent Association? An Updated Cohort Analysis of a Large Perinatal Database. [PDF]

open access: yesPLoS ONE, 2015
Several studies and a recent meta-analysis have suggested that previous Cesarean section may increase the risk of stillbirth in a subsequent pregnancy. Given the high rates of Cesarean section in contemporary obstetric practice, this is of considerable ...
Stephen Wood, Sue Ross, Reg Sauve
doaj   +1 more source

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