We describe a congenital bilateral absence of the vas deferens (CBAVD) patient with a compound heterozygosity in the cystic fibrosis transmembrane regulator (CFTR) gene for a stop mutation W1282X and a new missense mutation P499A. The P499A is interpreted as a mild mutation whose phenotypic effects, in this case limited to the development of wolffian duct derivatives, are revealed only in combination with a severe CFTR mutation.
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http://dx.doi.org/10.1111/j.1399-0004.1998.tb02677.x | DOI Listing |
J Vasc Surg Cases Innov Tech
April 2025
Libin Cardiovascular Institute, University of Calgary, Calgary, Alberta, Canada.
We describe a patient with an asymptomatic infrarenal abdominal aortic aneurysm. Treatment decisions were complicated by the presence of a left congenital pelvic kidney supplied by two renal arteries originating from the proximal common iliac arteries bilaterally and respiratory status that was prohibitive to open repair. A hybrid surgical repair was performed with a bifurcated aortic endograft and parallel grafting to revascularize the pelvic renal arteries.
View Article and Find Full Text PDFMultimed Man Cardiothorac Surg
January 2025
Congenital Heart Center, Division of Cardiovascular Surgery, Department of Surgery, University of Florida, Gainesville, FL, USA.
The Berlin Heart EXCOR is a pulsatile paracorporeal ventricular assist device (VAD) for neonates, infants, children and adults with congenital or acquired severe ventricular dysfunction. Berlin Heart EXCOR VADs are routinely used as either a bridge to a cardiac transplantation, or occasionally as a bridge to ventricular recovery. Our programmatic philosophy is to bridge neonates and infants with functionally univentricular ductal-dependent systemic circulation or functionally univentricular ductal-dependent pulmonary circulation who are at high risk for staged palliation because of important cardiac risk factors with a single-ventricle VAD (sVAD) as a bridge to a cardiac transplant.
View Article and Find Full Text PDFJ Laparoendosc Adv Surg Tech A
January 2025
Department of Pediatric Surgery, Tehran University of Medical Sciences, Tehran, Iran.
Morgagni hernia (MH), a rare type of congenital diaphragmatic hernia, does not have an established protocol for surgical repair. A MEDLINE search with terms related to various surgical approaches to repair MH in children was conducted. Articles comprising robotic-assisted surgery, laparoscopy, laparotomy, thoracoscopy, and thoracotomy over the last 20 years were assessed.
View Article and Find Full Text PDFCase Rep Obstet Gynecol
January 2025
Department of Medicine, Ethio Tebib Hospital, Addis Ababa, Ethiopia.
Müllerian duct anomalies and uterine leiomyomas represent distinctive facets of female reproductive health. While uterine leiomyomas are prevalent reproductive pathologies, the coexistence of Müllerian anomalies and leiomyomas is relatively uncommon. This case study examines the complex medical and surgical management of a woman who initially presented with chronic abdominal pain and swelling.
View Article and Find Full Text PDFJ Hand Microsurg
January 2025
Department of Orthopaedic Surgery, Atrium Health Musculoskeletal Institute, Charlotte, NC, USA.
Introduction: Transition to outpatient surgery has grown with an emphasis on delivery of safe, high-quality medical care. The purpose of this study is to compare 90-day emergency department (ED) visits, readmissions, and complications between patients undergoing outpatient versus inpatient pollicization surgery.
Methods: A single institution database was queried for primary thumb pollicization from 2010 to 2022 in patients under 18 years of age.
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