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Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2.
Cureus
November 2024
Physical Medicine and Rehabilitation, St. John's National Academy of Health Sciences, Bengaluru, IND.
Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder characterized by muscle weakness, joint contractures, and cardiac dysfunction. Within this spectrum, EDMD Type 2, attributed to a heterozygous missense variant in exon 9 of the LMNA gene, presents a distinctive clinical profile. This case report details the presentation and management of a teenage girl displaying neck, trunk, upper and lower limb weakness, Achilles tendon contracture, and lordosis.
View Article and Find Full Text PDFKnowledge and attitudes of primary care physicians regarding acromegaly: a survey study with multinational participation.
BMC Prim Care
December 2024
Department of Internal Medicine, Division of Endocrinology and Metabolism, Cerrahpasa Medical Faculty, Istanbul University Cerrahpasa, Istanbul, Turkey.
Background: Acromegaly is a disease with high morbidity and mortality rates. The role of primary care physicians is very important in the early diagnosis of acromegaly. The present study aims to determine the knowledge and attitudes of primary care physicians about acromegaly in different countries worldwide.
View Article and Find Full Text PDFSLC26A3 (DRA, the Congenital Chloride Diarrhea Gene): A Novel Therapeutic Target for Diarrheal Diseases.
Cell Mol Gastroenterol Hepatol
December 2024
- Division of Gastroenterology and Hepatology, Department of Medicine, University of Illinois, Chicago, IL, USA; - Jesse Brown VA Medical Center, Chicago, IL, USA. Electronic address:
Diarrhea associated with enteric infections, gut inflammation, and genetic defects poses a major health burden and results in significant morbidity and mortality. Impaired fluid and electrolyte absorption and/or secretion in the intestine are the hallmark of diarrhea. Electroneutral NaCl absorption in the mammalian GI tract involves the coupling of Na/H and Cl/HCO exchangers.
View Article and Find Full Text PDFSpinal Cord Stimulation for Prolonged Disorders of Consciousness: A Study on Scalp Electroencephalography.
CNS Neurosci Ther
December 2024
Department of Functional Neurosurgery, The Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China.
Background: Patients with disorders of consciousness (DOC) undergoing spinal cord stimulation (SCS) for arousal treatment require an assessment of their conscious state before and after the procedure. This is typically evaluated using behavioral scales (CRS-R), but this method can be influenced by the subjectivity of the physician. Event-related potentials (ERP) and EEG power spectrum are associated with the recovery of consciousness.
View Article and Find Full Text PDFRelationship Between Physical Exercise and Risk of Depression: An Assessment of Intermediate Variables Through Self-Assessed Health Status and Life Satisfaction in the Chinese Family Tracking Survey (CFPS) Data.
Risk Manag Healthc Policy
December 2024
School of Physical Education, Huaibei Normal University, Huaibei, People's Republic of China.
Objective: Depression is a potential health killer. As an important means of preventing various human diseases, physical exercise plays an important role in reducing the risk of depression. Using data from the Chinese Household Tracking Survey, this study analyzed the mechanisms by which physical exercise, self-rated health and life satisfaction reduce the risk of depression.
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