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Relative Frequency of Metachromatic Leukodystrophy in Egypt: A Reference Laboratory Report.
Front Biosci (Schol Ed)
December 2024
Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.
Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary neurodegenerative disease caused by a deficiency in arylsulfatase A (ARSA) activity and belongs to the group of lysosomal storage diseases. A biochemical diagnosis of MLD is based on determining the residual ARSA activity in leukocytes, skin fibroblasts, and urine. This study documents our biochemical experience and estimates the relative frequency of MLD over 21 years (2001-2022).
View Article and Find Full Text PDFClinical Presentation and Treatment Outcomes of Necrotizing Fasciitis: A Prospective Comparative Study of Children and Adults in Sokoto.
J West Afr Coll Surg
July 2024
Department of Surgery, Faculty of Clinical Sciences, Usmanu Danfodiyo University, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria.
Background: Necrotizing fasciitis (NF) is a severe soft tissue infection typified by swiftly spreading necrosis of the fascia and subcutaneous fat with successive necrosis of the skin which affects all age groups.
Objective: To compare the clinical presentation and treatment outcome of NF between children and adults.
Materials And Methods: A prospective descriptive study of all patients presenting with NF to the (Usmanu Danfodiyo Univrersity Teaching Hospital, Sokoto), from September 2018 to August 2019.
Eculizumab in thymoma-associated myasthenia gravis: a real-world cohort study.
Ther Adv Neurol Disord
December 2024
Huashan Rare Disease Center and Department of Neurology, Huashan Hospital, Shanghai Medical College, National Center for Neurological Disorders, Fudan University, No.12 Urumqi Middle Road, Jing 'an District, Shanghai 200040, China.
Background: Thymoma-associated myasthenia gravis (TAMG) is a subtype of myasthenia gravis (MG) that is associated with more severe symptoms and a relatively poor prognosis. Eculizumab, an inhibitor to target human C5 component of the complement cascade, is considered a treatment option for refractory generalized MG (gMG).
Objectives: To explore the safety and efficacy of eculizumab in patients with TAMG.
This study examines the efficacy of jaw exercising products for facial contouring. The two individuals used a commercially available jaw exerciser for approximately three months, following the provided instructions. Neither case reported noticeable changes in jaw appearance based on subjective measurements.
View Article and Find Full Text PDFEvaluating the Impact of a Virtual Skin Cancer Awareness Workshop for 16-19-Year-Olds.
Cureus
November 2024
Medical Education, NHS Lothian, Edinburgh, GBR.
Introduction The incidence of malignant melanoma (MM) in the United Kingdom (UK) has significantly increased in recent years and is expected to continue to rise over the next decade. Despite the preventable nature of most MM cases, existing evidence suggests that public health education around skin cancer and sun safety is often suboptimal, particularly for secondary school populations. Unlike primary school curricula, there is no national guidance to mandate the teaching of this topic in secondary school.
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