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Stem Cells Transl Med
January 2025
Developmental and Stem Cell Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, ON, Canada M5G 0A4.
Disruption of developmental processes affecting the fetal lung leads to pulmonary hypoplasia. Pulmonary hypoplasia results from several conditions including congenital diaphragmatic hernia (CDH) and oligohydramnios. Both entities have high morbidity and mortality, and no effective therapy that fully restores normal lung development.
View Article and Find Full Text PDFOpen Med (Wars)
December 2024
Department of Pulmonary and Critical Care Medicine, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, Hainan, China.
Introduction: Recurrent opportunistic infections are particularly common in patients infected with human immunodeficiency virus (HIV). However, these opportunistic infections have also been reported in HIV-negative patients, especially those with primary immunodeficiency disorder (PID), a condition that involves a large heterogeneous group of disorders arising from defects in immune system development and/or function.
Case: Here, we report a very rare case of recurrent opportunistic infections in a non-HIV-infected patient combined with mutations in complement component C6 and nuclear factor kB subunit 1 ().
JACC Case Rep
January 2025
Interventional Cardiology Section, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
Aneurysms of the interventricular membranous septum are a rare anatomical feature that can be detected incidentally on computed tomography or echocardiography. Such aneurysms can pose challenges in the treatment of patients with aortic valve stenosis. A case series of 2 patients with membranous septal aneurysms treated successfully with current-generation balloon-expandable and self-expanding transcatheter heart valves is presented here.
View Article and Find Full Text PDFCureus
December 2024
General Surgery, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, IND.
Internal hernias are one of the rare causes of intestinal obstruction and usually is the diagnosis of exclusion. Para-duodenal hernias (PDH) are rare congenital disorders that occur due to malrotation of the midgut in the embryonic phase of development. They can be asymptomatic or can present as an incarcerated, strangulated, or even obstructed internal hernia.
View Article and Find Full Text PDFPrune belly syndrome (PBS), or Eagle-Barrett syndrome, is a rare congenital disorder marked by abdominal wall muscle deficiency, urinary tract anomalies, and cryptorchidism, causing significant abdominal wall laxity and functional impairment. This case report discusses an innovative approach to abdominal wall reconstruction in a 19-year-old male patient with PBS and associated conditions, including chronic renal failure and spina bifida. Previously, he underwent distal ureterectomy and vesicoureteral reimplantation at the age of two years to correct urinary tract dilation and bilateral orchiopexy.
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