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http://dx.doi.org/10.1007/s10875-018-0506-y | DOI Listing |
Int Ophthalmol
September 2025
People's Hospital of Ningxia Hui Autonomous Region, Third Clinical Medical College of Ningxia Medical University, Yinchuan, China.
Purpose: Keratoconus (KC) is a bilateral, asymmetric disease causing corneal thinning, irregular astigmatism, and vision decline, with unclear etiology. This study aims to investigate pathogenic variants of candidate genes in Chinese KC families via whole exome sequencing (WES).
Methods: The Pentacam 3D anterior segment analysis system was applied for keratectasia detection, and the Corvis ST was used for corneal biomechanics measurement.
Cardiol Res Pract
August 2025
Cardiovascular Research Center, Rajaie Cardiovascular Institute, Tehran, Iran.
Long QT syndrome (LQTS) is an inherited cardiac channelopathy marked by QT interval prolongation and increased risk of life-threatening arrhythmias. While variants in , , and explain most cases, many remain genetically unexplained. This study emphasizes the value of genetic testing in diagnosis and individualized therapy.
View Article and Find Full Text PDFHaematologica
September 2025
Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada; Department of Medicine, Queen's University, Kingston, ON.
Clonal hematopoiesis (CH) involves the expansion of hematopoietic stem cells with ageacquired mutations linked to myeloid malignancy. Advances in next-generation and single-cell sequencing, along with computational modeling, have expanded our ability to detect both common and rare CH drivers, including single-nucleotide variants and mosaic chromosomal alterations, with increasing sensitivity. While sequencing methods differ in accuracy, cost, and ability to detect low-frequency variants, they have deepened our understanding of CH biology.
View Article and Find Full Text PDFAnn Med Surg (Lond)
September 2025
Faculty of Medicine, Al Neelain University, Khartoum, Sudan.
Klippel-Trenaunay syndrome (KTS) is a rare inherited disorder presenting as a triad of capillary malformations (cutaneous hemangiomas), soft tissue hypertrophy, and varicosities. Two out of three signs are enough to make a diagnosis. It is associated with gastrointestinal, hematological, neuro-ophthalmic, dermatological, pulmonary, oro-dental, renal cardiac, and vascular complications.
View Article and Find Full Text PDFCancer Med
September 2025
Reproductive Medical Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, P.R. China.
Objective: To review the genetic basis, clinical characteristics, and management strategies of hereditary gynecologic cancers associated with hereditary cancer syndromes.
Methods: Literature on germline mutations, inheritance patterns, clinical manifestations, and fertility preservation strategies was reviewed.
Results: Germline pathogenic mutations, predominantly inherited in an autosomal dominant manner, increase susceptibility to gynecologic tumors with varying risks.