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Erdheim Chester Disease with Calvarial Involvement: A rare case of Histiocytosis.
Turk Neurosurg
March 2024
SBÜ Gaziosmanpaşa Eğitim ve Araştırma Hastanesi.
Erdheim-Chester Disease is a rare systemic xanthogranulomatous infiltrating disease, characterized by lipid-laden histiocytes accumulating in various organs and almost always in bones. Etiology of the disease is still unknown. It may involve various organs and systems, such as musculoskeletal, cardiac, pulmonary, renal, gastrointestinal and central nervous system (CNS) as well as the skin.
View Article and Find Full Text PDFA Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian Response.
Clin Genet
January 2025
NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Sciences, Central South University, ChangSha, China.
An increasing number of patients utilizing in vitro fertilization (IVF) and assisted reproductive technology (ART) are characterized as impaired or poor ovarian responders (PORs). Owing to its unclear molecular etiology, the management of patients with age-related ovarian characteristics remains a controversial and complex clinical concern. Therefore, it is important to identify and understand the etiological causes behind POR to develop more effective and efficient management strategies for these patients.
View Article and Find Full Text PDFSevere phlebitis and cutaneous necrosis following peripheral administration of high-concentration potassium chloride: A case report and vascular access management implications.
Sci Prog
January 2025
Department of Hepatobiliary Surgery, Liaoning Cancer Hospital & Institute, Cancer Hospital of China Medical University, Shenyang, China.
Electrolyte imbalance management is crucial in diverse clinical scenarios, with intravenous potassium repletion often required. High-concentration infusions can pose severe complications if extravasation occurs, leading to phlebitis, local tissue damage, or in severe cases, cutaneous necrosis. This risk is elevated in geriatric patients due to factors like reduced tissue elasticity and sensitivity.
View Article and Find Full Text PDFToe- Brachial Index: Utility, Futility, and Diagnostic Criteria.
Angiology
January 2025
Gonda Vascular Center, Department of Cardiology, Division of Vascular Medicine, Mayo Clinic, Rochester, MN, USA.
Ankle brachial index (ABI) can be unreliable in patients with non-compressible vessels. Our aim is to determine the feasibility of toe brachial index (TBI) and reporting criteria in a large population. We evaluated Doppler waveforms and segmental pressures in 26,719 limbs.
View Article and Find Full Text PDFDetection of clinically relevant variants in the gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.
Hemasphere
January 2025
Department of Internal Medicine, Hematology and Oncology, and Institute of Medical Genetics and Genomics, University Hospital Brno and Medical Faculty Masaryk University Brno Czech Republic.
In chronic lymphocytic leukemia, the reliability of next-generation sequencing (NGS) to detect variants ≤10% allelic frequency (low-VAF) is debated. We tested the ability to detect 23 such variants in 41 different laboratories using their NGS method of choice. The sensitivity was 85.
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