Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/10715760802613756 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Am J Kidney Dis
January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
View Article and Find Full Text PDFClinical Characteristics and In Vivo Confocal Microscopic Study in Candida Keratitis.
Transl Vis Sci Technol
January 2025
Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Purpose: To clarify the clinical and imaging characteristics of Candida keratitis using in vivo confocal microscopy (IVCM) for improved early diagnosis and management.
Methods: A retrospective study of 40 patients with Candida keratitis at Beijing Tongren Hospital from January 2015 to December 2023 was conducted. Data included demographics, risk factors, clinical assessments, lab tests, and IVCM images.
Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.
Front Immunol
January 2025
Department of Rheumatology & Allergology, Japanese Red Cross Medical Center, Tokyo, Japan.
Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting.
View Article and Find Full Text PDFSHORT HISTORY OF OBESITY.
Acta Endocrinol (Buchar)
January 2025
Istanbul University-Cerrahpasa Cerrahpasa Faculty of Medicine - Department of Medicine, Istanbul, Turkey.
Obesity epidemic, developed in recent decades with global dissemination, brings scientific interest in causes and consequences for mankind. It is of interest whether obesity existed under different, non-obesogenic environments in ancient time. There is evidence for particular obesity existence in artefacts and pictures from caves, originated in ancient times.
View Article and Find Full Text PDFTHE EVALUATION OF SHORT AND LONG-TERM QUALITY OF LIFE IN PATIENTS UNDERGOING THYROIDECTOMY DUE TO BENIGN OR MALIGNANT DISEASES.
Acta Endocrinol (Buchar)
January 2025
Health Sciences University "Dr. Abdurrahman Yurtaslan" Oncology Training and Research Hospital, Department of General Surgery, Ankara, Turkey.
Context: In patients undergoing thyroidectomy for malignant disease, lower quality of life scores were observed in the early postoperative period compared to those undergoing thyroidectomy for benign causes.
Objective: Thyroid gland diseases are commonly encountered in society. This study presents health-related quality of life differences in thyroidectomies performed for benign and malignant diseases and the factors affecting this.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!