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Klippel-Trenaunay Syndrome: A Case Study of Severe Anemia in a Rare Vascular Disorder.
Cureus
December 2024
Internal Medicine Department, Hamad Medical Corporation, Doha, QAT.
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder involving varicosities, cutaneous vascular malformations, and hypertrophy of soft tissues and bones. It is often linked to gene mutations. It affects the lymphatic, capillary, and venous systems.
View Article and Find Full Text PDFA rare case of a 5-year-old girl with Klippel-Trénaunay syndrome and a bleeding focal vulvar hemangioma in Uganda.
Clin Case Rep
October 2024
Head of Department, Dermatology MUST Mbarara Uganda.
Article Synopsis
- * The case involved a 5-year-old girl exhibiting common KTS traits alongside a rare bleeding hemangioma, requiring specific treatments like compression bandaging and timolol.
- * Continuous monitoring of female patients with KTS is crucial to manage potential complications that may arise during adolescence and pregnancy.
Identification of key risk factors for venous thromboembolism in urological inpatients based on the Caprini scale and interpretable machine learning methods.
Thromb J
August 2024
Department of Urology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, 317000, Zhejiang, China.
Article Synopsis
- The study aimed to identify key risk factors for venous thromboembolism (VTE) in urological inpatients using the Caprini scale and an interpretable machine learning method.
- It utilized the Boruta method for variable selection and the rough set method to create decision rules, comparing the results with advanced machine learning models like random forest, support vector machine, and backpropagation artificial neural networks.
- Key risk factors identified included age, major surgery, and malignancy, with the backpropagation neural network demonstrating the highest accuracy (97.2%) in predicting VTE risks.
SOLAMEN syndrome with cardiovascular damage.
Hereditas
July 2024
Department of Burn and Plastic Surgery, The Children's Hospital, National Clinical Research Center, Zhejiang University School of Medicine, Zhejiang Hangzhou, PR China.
Article Synopsis
- SOLAMEN syndrome is a rare congenital disorder marked by progressive, multi-system issues like overgrowth, lipomatosis, arteriovenous malformation (AVM), and epidermal nevus, primarily linked to a PTEN gene mutation.
- The syndrome’s symptoms can overlap with other conditions, making diagnosis tricky and often leading to misdiagnoses such as Klippel-Trenaunay or Parks-Weber syndromes.
- A specific case of a child with various symptoms including macrocephaly and significant AVM was documented; genetic sequencing confirmed a PTEN mutation and highlighted the need for regular health evaluations and potential treatments due to the risk of AVM progression and cardiac defects.
Alternative Venous Pathways: A Potential Key Imaging Feature for Early Diagnosis of Sturge-Weber Syndrome Type 1.
AJNR Am J Neuroradiol
January 2025
From the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Background And Purpose: Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by cortical atrophy and calcifications on late-stage imaging. Understanding the evolution of brain lesions is crucial for effective early interventions, yet the timeline remains unclear. We aimed to evaluate early brain MRI findings and their progression longitudinally on follow-up MRI in children diagnosed with SWS.
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