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European central hypoventilation syndrome consortium description of congenital central hypoventilation syndrome neonatal onset.
Eur J Pediatr
January 2025
Service de Physiologie Pédiatrique-Centre du Sommeil-CRMR Hypoventilations Alvéolaires Rares, INSERM NeuroDiderot, Université Paris-Cité, AP-HP, Hôpital Robert Debré, Paris, France.
Unlabelled: It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected.
View Article and Find Full Text PDFPediatric gallbladder torsion managed by laparoscopic cholecystectomy: a case report and scoping review.
Front Pediatr
January 2025
Department of General Surgery, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
Gallbladder torsion (GT), characterized by the axial rotation of the cystic duct and cystic artery, is a critical condition that predominantly affects elderly women and is infrequently observed in children. Chronic cholecystitis associated with incomplete GT is a particularly rare phenomenon. This article presents a pediatric case of chronic cholecystitis associated with incomplete GT.
View Article and Find Full Text PDFMidline Anterior Neck Inclusion Cyst in a Pediatric Patient: A Case Report and Literature Review with a Dermatologic Perspective.
Medicina (Kaunas)
January 2025
Dermatology Unit, Ospedale di Circolo Fondazione Macchi, ASST Sette Laghi, 21100 Varese, Italy.
Midline Anterior Neck Inclusion Cysts (MANICs) are rare congenital anomalies caused by improper embryonic fusion. These superficial benign lesions typically appear yellowish and cystic without deeper anatomic connections. We describe an 11-month-old boy with a stable, asymptomatic, yellow, elastic cystic lesion on the midline of the anterior neck, measuring 4 mm and present since shortly after birth.
View Article and Find Full Text PDFAccessory uterine cavities: a review of cases and an appeal for standard terminology.
Fertil Steril
January 2025
Department of Gynaecology, Royal Children's Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia.
Objective: To study and address the diagnostic, management, and classification challenges of unilocular myometrial cystic lesions adjacent to a normal uterine cavity.
Design: Describe 23 further cases, and undertake a systematic review using Medline, PubMed and Ovid for similar lesions.
Subjects: 23 cases of accessory uterine cavities presenting to pediatric and adolescent gynecologists in Australia and New Zealand.
Perinatal dysfunction of innate immunity in cystic fibrosis.
Sci Transl Med
January 2025
First Department of Medicine, Cardiology, TUM University Hospital, Technical University of Munich, School of Medicine and Health, Munich 81675, Germany.
In patients with cystic fibrosis (CF), repeated cycles of infection and inflammation eventually lead to fatal lung damage. Although diminished mucus clearance can be restored by highly effective CFTR modulator therapy, inflammation and infection often persist. To elucidate the role of the innate immune system in CF etiology, we investigated a CF pig model and compared these results with those for preschool children with CF.
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