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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.
View Article and Find Full Text PDFFirst report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.
Rev Paul Pediatr
January 2025
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.
View Article and Find Full Text PDFPredicting the risk of high-grade precancerous cervical lesions based on high-risk HPV typing in Changsha China.
BMC Womens Health
January 2025
Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha, China.
Background: Persistent infection with high-risk human papillomavirus (HPV) is a significant risk factor for cervical cancer. HPV typing and cytology are conducted in women of appropriate age to assess the risk of cervical lesions and to guide the need for further diagnostic procedures such as colposcopy, cervical biopsy, or treatment. This article explores methods to predict the risks of high-grade precancerous cervical lesions based on high-risk HPV typing.
View Article and Find Full Text PDFSuccessful Laparoscopic Sleeve Gastrectomy in a Patient With Rare Congenital Factor VII Deficiency: A Case Report and Management Strategy.
Cureus
December 2024
Department of Surgery, King Abdulaziz Specialist Hospital, Taif, SAU.
Congenital factor VII (FVII) deficiency is a rare coagulation disorder that increases the risk of bleeding complications during surgery. Although laparoscopic sleeve gastrectomy (LSG) is the most common metabolic bariatric surgery (MBS), it is rarely performed in patients with congenital coagulation disorders such as FVII deficiency, due to the high risk of intraoperative and postoperative bleeding. We report the case of a 57-year-old female with class II obesity (BMI 37.
View Article and Find Full Text PDFIsolated absent pulmonary valve with intact ventricular septum in a young child: A rare case report.
Ann Pediatr Cardiol
December 2024
Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India.
Absent pulmonary valve syndrome, commonly linked with tetralogy of Fallot and ventricular septal defect, is a rare congenital condition. It is exceedingly rare to have an isolated absent pulmonary valve with an intact ventricular septum without cardiovascular shunt lesions, such as an atrial/ventricular septal defect or patent ductus arteriosus. This report presents a case of such rarity involving a young child with recurrent lower respiratory tract infections.
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