This is a report of a case of complete congenital tracheal stenosis confirmed by tracheobronchogram. The stenosis also involved the origin of the right main bronchus. The membranous portion of the trachea was absent. It was repaired through a sternotomy and right thoracotomy aided by partial cardiopulmonary bypass. The posterior trachea was opened from larynx to carina and on into the right main bronchus, and each posterior tracheal edge was sewn to the anterior wall of the esophagus with a running Prolene suture. Three months after repair bronchoscopy showed that the new membranous trachea was epithelialized and the entire airway was of good caliber; the only problem was a diffuse tracheomalacia. He died in his seventh postoperative month after a major airway complication due to tracheotomy, which occurred after an elective bronchoscopy. It is obvious that this operation is technically feasible. It was hoped that his airway would become sufficiently stable to allow the tracheotomy tube to be removed at some time in the future.
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http://dx.doi.org/10.1016/s0022-3468(82)80459-4 | DOI Listing |
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.
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 PDFArch 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.
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.
View Article and Find Full Text PDFEur J Ophthalmol
January 2025
Ophthalmology, Faculty of Medicine, Mansoura University, Egypt.
Study Purpose: to compare single- site viscotrabeculotomy in one eye and double-site rigid probe viscotrabeculotomy in the other eye of the same patient with Primary congenital glaucoma to evaluate the effect of the extent of angle treatment on success rate in the study's locality.
Patients And Methods: This prospective randomized study included 70 eyes of 35 children diagnosed with bilateral PCG who attended Mansoura Ophthalmic Center from June 2021 to July 2023. For each patient, one eye underwent single-site rigid probe viscotrabeculotomy (Group S: 35 eyes) and the fellow eye underwent double- site rigid probe viscotrabeculotomy (Group D: 35 eyes).
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