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Background: Pulmonary hypertension is a progressive and often fatal disease that frequently presents with the non-specific symptom of dyspnea on exertion.
Aim: To determine non-Invasive Predictors of Pulmonary vascular resistance severity and reversibility in simple Congenital Heart Disease Patients Using 3D Echocardiography.
Patients And Methods: This was a Prospective cohort study conducted on 40 patients selected from attendees of Cardiology clinics of Ain Shams University Hospitals over a period of 2 years.
Venoarterial extracorporeal membrane oxygenation using magnetic levitation centrifugal pumps for fulminant myocarditis in infants, children and young adults.
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Division of Cardiac Surgery, Department of Surgery, Dentistry, Pediatrics and Gynecology, Verona, Italy.
Background: Fulminant myocarditis (FM) is a potentially lethal disease with a wide spectrum of clinical presentation, thus making the diagnosis hard to depict. In cases where acute circulatory failure occurs venoarterial (VA) extracorporeal membrane oxygenation (ECMO) support is a valid management strategy, especially in the pediatric and adult patients. This study aims to report the results of VA ECMO for FM in our Institution.
View Article and Find Full Text PDFSurgery for chronic pyothorax after failed amplatzer closure of bronchopleural fistula.
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Department of Thoracic and Vascular Surgery, and Lung Transplantation, Marie-Lannelongue Hospital, Le Plessis-Robinson, France.
Background: Post-pneumonectomy bronchopleural fistula (BPF) is a life-threatening event whose treatment is not standardized.
Case Presentation: We report the management of a 28-year-old patient with a 3-year history of BPF complicating right pneumonectomy for congenital emphysema. Despite closure by an Amplatzer device, the patient had chronic pyothorax and severely deteriorated general health and quality of life.
Compound heterozygous mutations (p.L68R∗37 and p.T241N) lead to abnormal protein levels and structures in hereditary FVII deficiency.
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Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Jiangnan, Chongqing, China.
Background: Congenital factor VII (FVII) deficiency is a genetic disorder characterized by decreased FVII activity, which sometimes leads to fatal bleeding. Numerous variants have been found in FVII deficiency, but mutations vary among patients. Each mutation deserves further exploration for each patient at risk of bleeding.
View Article and Find Full Text PDFChild Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
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Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
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