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Novel Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome.
Genes (Basel)
December 2024
Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia.
The advent of next-generation sequencing (NGS) has revolutionized the analysis of genetic data, enabling rapid identification of pathogenic variants in patients with inborn errors of immunity (IEI). Sometimes, the use of NGS-based technologies is associated with challenges in the evaluation of the clinical significance of novel genetic variants. In silico prediction tools, such as SpliceAI neural network, are often used as a first-tier approach for the primary examination of genetic variants of uncertain clinical significance.
View Article and Find Full Text PDFEVALUATION OF VITAMIN D LEVEL IN SERUM OF PATIENTS WITH VITILIGO.
Georgian Med News
November 2024
2Department of Pharmacology, College of Medicine, University of Baghdad, Iraq.
Background: Vitamin D deficiency promotes initiation and sustainment of numerous medical disorders, including cancer, diabetes mellitus, autoimmune disorders, and cardiovascular diseases. The expression of vitamin D receptors by melanocytes suggests a role for it in controlling their physiology.
Aim: Therefore, the aim of this study was to compare serum vitamin D levels in patients with vitiligo and normal healthy individuals.
Hypopigmented mycosis fungoides: an important differential diagnosis of hypochromias in childhood.
Rev Paul Pediatr
January 2025
Universidade do Estado do Pará, Belém, PA, Brazil.
Objective: To highlight the importance of early recognition of hypopigmented mycosis fungoides (HMF) in cases of cutaneous hypochromia in children, with a view to an effective diagnostic and therapeutic approach.
Case Description: Two cases of HMF in children are reported. The first case involves an eight-year-old boy with hypochromic macules on the trunk and root of the upper and lower limbs, while the second case is a six-year-old boy with widespread hypochromic patches.
A Veteran Presenting With Fatigue and Weakness.
Fed Pract
October 2024
Veterans Affairs Boston Healthcare System, West Roxbury, Massachusetts.
: A 65-year-old male veteran presented to the Veterans Affairs Boston Healthcare System (VABHS) emergency department with progressive fatigue, dyspnea on exertion, lightheadedness, and falls over the last month. New bilateral lower extremity numbness up to his knees developed in the week prior to admission and prompted him to seek care. Additional history included 2 episodes of transient loss of consciousness resulting in falls and a week of diarrhea, which had resolved.
View Article and Find Full Text PDFEvaluation of the serum level of Lipocalin 2 in vitiligo.
Arch Dermatol Res
January 2025
Department of Dermatology, Faculty of Medicine, Fayoum University, Fayoum, Egypt.
Vitiligo is considered as depigmenting skin disorder where patches of skin losing their pigment. Lipocalin-2 (LCN2) is one of the Inflammatory adipokines that has a potential role in skin disorders and other inflammatory diseases as well. To measure the concentration level of LCN2 in vitiligo patients compared to healthy controls and to investigate its relation to disease activity and other clinical data to evaluate its role in the pathogenesis of the disease.
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