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Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Neurology
February 2025
Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, People's Republic of China.
Background And Objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders.
Methods: This cross-sectional multicenter observational study used data provided by 26 mitochondrial disease centers from 8 countries from January 2022 to March 2023.
Intra-articular Median Nerve Entrapment of the Elbow After Medial Epicondyle Fracture: A Case Report.
JBJS Case Connect
January 2025
Department of General and Trauma Surgery, BG University Hospital Bergmannsheil, Bochum, Germany.
Case: We describe a 13-year-old adolescent girl experiencing persistent pain and reduced grip strength following nonoperative treatment of a medial epicondyle fracture-dislocation with closed reduction over 5 years before her referral to our clinic. Neurological examination and magnetic resonance imaging of the elbow revealed damage to the median nerve due to an entrapment within the elbow. Surgical release of the nerve resulted in complete pain relief and improved neurological function with normalized nerve conduction.
View Article and Find Full Text PDFUnraveling the Rare Association Between Ulcerative Colitis and Posterior Reversible Encephalopathy Syndrome: A Case Report.
Cureus
December 2024
Department of Pathology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Brain edema and neurological symptoms are the hallmarks of the uncommon disease known as posterior reversible encephalopathy syndrome (PRES), which can have several etiological causes. Since the etiology determines the course of treatment, diagnosis is crucial. There have only been 14 cases of PRES associated with inflammatory bowel disorders documented.
View Article and Find Full Text PDFGriscelli syndrome is a rare autosomal recessive disorder characterised by pigmentary dilution of skin and hair, recurrent skin and pulmonary infections, neurological manifestations, and immunodeficiency. We present a four-month-old female child with hypopigmented silvery hair and a history of recurrent hospitalisations for respiratory illness. The child was extensively evaluated for inborn errors of immunity (IEI), and the final diagnosis of type 2 Griscelli syndrome was made only after genetic testing.
View Article and Find Full Text PDFSARS-CoV-2 infection in microglia and its sequelae: What do we know so far?
Brain Behav Immun Health
December 2024
James & Lillian Martin Centre, Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused the COVID-19 pandemic. After the success of therapeutics and worldwide vaccination, the long-term sequelae of SARS-CoV-2 infections are yet to be determined. Common symptoms of COVID-19 include the loss of taste and smell, suggesting SARS-CoV-2 infection has a potentially detrimental effect on neurons within the olfactory/taste pathways, with direct access to the central nervous system (CNS).
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