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First branchial cleft anomalies in children: long-term outcome in 16 patients.
Eur Arch Otorhinolaryngol
January 2025
Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.
Introduction: First branchial cleft anomalies (FBCA) are rare congenital head and neck malformations, often subject to incorrect diagnosis and treatment. We present our experience with FBCA, focusing on clinical presentation, diagnosis, perioperative relation to the facial nerve, surgical approach, complications and patient satisfaction.
Methods: A consecutive cohort of 16 patients undergoing surgical treatment for FBCA between 1999 and 2021 was analyzed.
Ectopic thyroid tissue in the airway: a case report.
BMC Pulm Med
January 2025
Department of Respiratory Medicine, The Second Hospital of Jilin University, No. 4026 Yatai street, Changchun, 130041, Jilin, China.
Background: Ectopic thyroid tissue (ETT) is a rare congenital anomaly caused by the abnormal embryonic migration of thyroid tissue, leading to its presence outside its usual pretracheal location. This condition can lead to diagnostic challenges, especially when located within the airway, as it mimics other respiratory disorders such as asthma.
Case Presentation: We report the case of a 69-year-old man with endotracheal ETT presenting with severe dyspnea, and the lesion was initially suspected to be malignant.
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Am J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
View Article and Find Full Text PDFFertility induction associated with improved peripheral reproductive parameters in male mice subjected to GH and levothyroxine replacement.
Arch Endocrinol Metab
January 2025
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo Laboratório de Hormônios e Genética Molecular LIM/42 Divisão de Endocrinologia São PauloSP Brasil Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular LIM/42 - Divisão de Endocrinologia, São Paulo, SP, Brasil.
Objective: The aim of this study was to characterize the parameters of reproductive anatomy and pituitary hormone expression levels in ames dwarf mice ).
Materials And Methods: Male mice aged 30 days received daily intraperitoneal injections of recombinant human GH and levothyroxine three times weekly for 60 days. The sexual maturation of these animals was compared with that of their wild-type ( ) and untreated ( ) siblings.
Single-Stage Midline Unifocalization Is Associated With Excellent Outcomes in Infants of All Ages.
World J Pediatr Congenit Heart Surg
January 2025
Department of Cardiothoracic Surgery, Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA, USA.
Objective: Tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collateral arteries are a complex congenital heart defect. For years, our program has recommended early single-stage midline unifocalization at three to six months of age. However, many patients are referred beyond six months.
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