This prospective cohort study aimed to determine clinical factors associated with congenital cytomegalovirus (CMV) infection in pregnancy. Newborns born at a perinatal medical center received PCR analyses for CMV-DNA in their urine with informed consent. Clinical data, including age, maternal fever or flu-like symptoms, complications, ultrasound fetal abnormality, gestational weeks at delivery, and birth weight, were collected. Logistic regression analyses determined clinical findings associated with congenital CMV infection (cCMV). cCMV was diagnosed in 32 of 4380 pregnancies. Univariate and multivariable analyses revealed that age < 25 years old (OR 2.7, 95% CI 1.1-6.6; p < 0.05), the presence of maternal fever or flu-like symptoms (5.4, 2.6-11.2; p < 0.01), ultrasound fetal abnormalities (12.7, 5.8-27.7; p < 0.01), and preterm delivery at less than 34 gestational weeks (2.6, 1.1-6.0; p < 0.05) were independent clinical findings associated with cCMV. A combination of maternal fever/flu-like symptoms, ultrasound fetal abnormalities, or preterm delivery at less than 34 gestational weeks as optimal predictive factors showed 90.6% sensitivity, 66.4% specificity, and a maximum Youden index of 0.57. CMV-DNA tests in the urine of newborns born to mothers with these clinical manifestations may be an effective method in detecting cCMV as a targeted screening with a high sensitivity.
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http://dx.doi.org/10.1038/s41598-020-76772-1 | DOI Listing |
Arch Womens Ment Health
December 2024
College of Pharmacy, Jinan University, Guangzhou, Guangdong, China.
Purpose: This study investigates the potential association between commonly prescribed psychotropic medications, such as Atypical Antipsychotics (AAs), Selective Serotonin Reuptake Inhibitors (SSRIs), and Serotonin Norepinephrine Reuptake Inhibitors (SNRIs), and congenital anomalies in newborns. The analysis uses data from the Food and Drug Administration Adverse Event Reporting System (FAERS).
Methods: Spontaneously reported cases of congenital anomalies in newborns (under 28 days old) were extracted from the FAERS database, covering January 2004 to June 2023.
Am J Med Genet A
December 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%-50% of patients. This phenotypic variability is partially explained by genotype-phenotype correlations, with several ribosomal protein genes implicated in this disorder. Most cases are due to de novo variants, but familial occurrences highlight variable expressivity and reduced penetrance.
View Article and Find Full Text PDFAm J Ophthalmol
December 2024
Department of Anatomy and Cell Biology, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. Electronic address:
Purpose: To characterize the clinical phenotype and disease progression in patients with NMNAT1-associated Leber congenital amaurosis (LCA) within the Korean population.
Design: Retrospective, observational case series.
Subjects: Fourteen patients with LCA with biallelic variants of NMNAT1 at a single tertiary referral center.
Neuromuscul Disord
December 2024
The John Walton Muscular Dystrophy Research Centre (JWMDRC), Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, United Kingdom.
Desmoid tumours, also known as aggressive fibromatosis, are rare tumours derived from mesenchymal stem cells, accounting for only 0.03 % of all tumours. While 85-90 % of cases are sporadic, desmoid tumours can occasionally be associated with Gardner syndrome (or Familial Adenomatous Polyposis), which is linked to variants in the tumour suppressor gene, APC (adenomatous polyposis coli) gene on chromosome 5.
View Article and Find Full Text PDFPediatr Neonatol
December 2024
Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine at the National Center for Child Health and Development, Tokyo, Japan.
Introduction: Type 1 congenital pulmonary airway malformation (CPAM) is characterized by large, dilated cysts that rapidly expand due to aeration immediately after birth, often necessitating surgical resection. In atypical cases of CPAM type 1, fetal T2-weighted magnetic resonance imaging (MRI) reveals a low-intensity solid lung mass containing multiple irregular T2 high-intensity areas.
Methods: Data were retrospectively collected for infants with atypical CPAM type 1 born at our hospital between March 2002 and December 2022.
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