Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFUnilateral cleft lip and palate patients present cranial base modifications: a cross-sectional study.
Braz Oral Res
January 2025
Pontifícia Universidade Católica de Minas Gerais - PUC Minas, School of Dentistry, Graduate Program in Dentistry, Belo Horizonte, MG, Brazil.
The aim of this cross-sectional study was to perform a three-dimensional (3D) assessment of the cranial base of patients with unilateral cleft lip and palate (UCLP). Cone-beam computed tomography (CBCT) scans of 52 UCLP patients (21 females and 31 males; mean age, 10.0 ± 2.
View Article and Find Full Text PDFPercutaneous Patent Ductus Arteriosus Closure in a Conjoined Twin: Case Report.
Arq Bras Cardiol
January 2025
Hospital ENCORE, Aparecida de Goiânia, GO - Brasil.
Conjoined twin patients with patent ductus arteriosus and hemodynamic repercussions have a worse prognosis. In the present case report, we demonstrate the first successful percutaneous closure of the ductus arteriosus with the Piccolo© device (Abbot Structural Heart, Plymouth, MN, USA) in this type of clinical situation.
View Article and Find Full Text PDFAnalysis of the incidence of death, hemorrhage, and neurological deficit in the treatment of intracranial arteriovenous malformations (AVMs): surgery versus other treatments - a systematic review.
Neurosurg Rev
January 2025
Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
To evaluate the incidence of mortality, hemorrhage, and neurological deficits in treating intracranial arteriovenous malformations (AVMs) in patients over 18 through a comparative analysis of surgical approaches and other therapeutic modalities. A systematic review was conducted using MEDLINE, Embase, CENTRAL, and LILACS databases in November 2023. Inclusion criteria included clinical trials, cohorts studies, case-controls studies, and case series comparing patients over 18 undergoing surgery or microsurgery versus other treatments (radiosurgery, isolated embolization, and conservative treatment).
View Article and Find Full Text PDFThe effect of cardiac catheterization on thyroid functions in infants with congenital heart diseases: a prospective observational study.
Eur J Pediatr
January 2025
Pediatric Endocrinology and Diabetes Unit, Department of Pediatrics, Mansoura Faculty of Medicine, Mansoura University Children's Hospital, Mansoura University, Gomhoria Street, Mansoura, 35516, Dakhlia, Egypt.
Unlabelled: This study aims to determine the incidence, clinical course, and risk factors of hypothyroidism following cardiac catheter (CC) in infants with congenital heart diseases (CHD). This prospective study involved 115 patients with CHD, all aged 3 years or younger, who underwent CC, as well as 100 healthy age- and sex-matched controls. Baseline thyroid function tests (TFTs) were conducted for both the patients and controls.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!