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Prenatal Diagnosis of ACTG2 Visceral Myopathy Presented With Fetal Megacystis Identified in the Second Trimester.
Prenat Diagn
January 2025
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Variants of the ACTG2 gene cause autosomal dominant ACTG2 visceral myopathy, a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system. Bladder involvement can behave as fetal megacystis (FM). We report four prenatal cases of ACTG2 visceral myopathy.
View Article and Find Full Text PDFOutcomes of prenatal use of elexacaftor/tezacaftor/ivacaftor in carrier mothers to treat meconium ileus in fetuses with cystic fibrosis.
J Cyst Fibros
December 2024
Department of Pediatrics, University of Colorado Anschutz Medical Campus and Children's Hospital Colorado, Aurora, CO, United States.
As cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies including elexacaftor/tezacaftor/ivacaftor (ETI) have become widely used in eligible patients with cystic fibrosis (CF), the use of these medications in pregnant people has become a critical area of investigation. Since these medications appear generally safe to both mother and fetus when taken by pregnant people with CF, interest has pivoted to the use of ETI in CF carrier mothers to decrease morbidity and mortality from meconium ileus (MI) in fetuses with cystic fibrosis. Here we discuss three infants at our institution with ultrasound findings of MI who were exposed to prenatal ETI through CF carrier mothers for the purposes of treating MI and lowering risk of intestinal complications from this severe manifestation of CF.
View Article and Find Full Text PDFPrediction of Intestinal Perforation by Daily Radiographic Findings in Very Low Birth Weight Infants With Meconium Ileus.
J Pediatr Surg
November 2024
Department of Pediatric Surgery, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8677, Japan.
Background: This study aimed to develop a prediction model for intestinal perforation from meconium ileus (MI) based on findings from plain X-ray images.
Methods: Very low birth weight (VLBW) infants with MI hospitalized in two tertiary centers between 2011 and 2022 were included in this study. We retrospectively reviewed clinical parameters and assessed plain X-ray images from 0 to 5 days of age.
Neurofibromatosis Type 1 Patients With Epilepsy: A Comprehensive Analysis of Demographics, Comorbidities and Healthcare Outcomes.
Exp Dermatol
November 2024
Rutgers New Jersey Medical School, Newark, New Jersey, USA.
Article Synopsis
- * Epilepsy occurs in about 4%-7% of NF1 patients, with limited research exploring its connections to NF1 demographics and health outcomes.
- * A study analyzing 4,635 NF1 patients found that those with epilepsy were primarily White males from lower-income backgrounds and identified several health issues that increase the likelihood of epilepsy in NF1 patients, leading to shorter hospital stays and fewer procedures.
Early oral feeding within two hours for parturients compared with delayed oral feeding after cesarean section: a systematic review and meta-analysis.
BMC Pregnancy Childbirth
October 2024
Department of Anesthesiology, West China Second University Hospital, Sichuan University, No. 20, Section 3, South Renmin Road, Chengdu, Sichuan Province, 610041, China.
Background: It is recommended that postpartum women undergo early oral feeding (EOF) after cesarean section (CS). However, the optimal early time for oral feeding after CS is unclear. We performed a meta-analysis to assess whether EOF within two hours is superior to delayed oral feeding (DOF) after CS.
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