Results 81 to 90 of about 50,473 (244)

Safety of Venom Immunotherapy in Pregnancy: A Multicentre Study

open access: yesAllergy, EarlyView.
Venom immunotherapy (VIT) during pregnancy, when maintenance dose is well tolerated, can be continued. No increased risk of adverse effects to VIT or safety concerns for the pregnancy or the newborns were observed. No decreased efficacy of VIT, in case of re‐stings, was reported.
Matteo Martini   +20 more
wiley   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

open access: yesAndrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding   +3 more
wiley   +1 more source

Recurrent lung nodules as a presentation of ventricular septal defect‐related endocarditis

open access: yesRespirology Case Reports, 2019
Infective endocarditis is an uncommon microbial infection of the endocardial surface of the heart. Patients with structural heart disease, such as a ventricular septal defect, are at higher risk for infective endocarditis and clinicians must have a high ...
Adam Trytell   +4 more
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

open access: yesActa Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao   +5 more
wiley   +1 more source

Ventricular Septal Dissection Complicating Inferior Wall Myocardial Infarction

open access: yesCase Reports in Cardiology, 2017
Postmyocardial infarction ventricular septal defect is an increasingly rare mechanical complication of acute myocardial infarction. We present a case of acute myocardial infarction from right coronary artery occlusion that developed hypotension and ...
Lindsey Kalvin   +4 more
doaj   +1 more source

Prevalence of Breastfeeding in Infants With Down Syndrome: A Systematic Review and Meta‐Analysis

open access: yesActa Paediatrica, EarlyView.
ABSTRACT Aim To estimate the prevalence of breastfeeding—overall, exclusive, partial and depending on infants' age—in infants with Down syndrome, and to investigate associated factors. Methods A systematic literature search was conducted in Medline, Cochrane Library, Web of Science, Embase, CINAHL and SciELO up to 1 August 2024.
Mélina Balland   +6 more
wiley   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

open access: yesClinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova   +5 more
wiley   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

open access: yesClinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr   +5 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng   +14 more
wiley   +1 more source

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