We reported a family case of HAM and HTLV-I carrier including two sisters presenting with myositis. Both the 65-year-old elder sister and her 53-year-old younger sister initially noted lumbago and developed difficulty in walking several years later. Neurologic examination revealed muscle weakness of the proximal parts of the upper and lower limbs (especially the latter). Mild hyperreflexia in all extremities, urinary disturbance and constipation were detected in the elder sister, while only urinary disturbance and constipation were seen in the younger. Anti-HTLV-I antibody in both serum and CSF was positive in both sisters. Muscle biopsy specimens showed features of myositis with perivascular, perimysial and endomysial lymphocyte infiltration. Although an association between HTLV-I and polymyositis had not yet been established, we think that our cases support such an association.
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Hepatology
January 2025
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Background Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) affects about a third of adults worldwide and is projected soon to be the leading cause of cirrhosis. It occurs when fat accumulates in hepatocytes and can progress to metabolic dysfunction-associated steatohepatitis (MASH), liver cirrhosis, and hepatocellular carcinoma. MASLD pathogenesis is believed to involve a combination of genetic and environmental risk factors.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2025
Department of Orthopeadic Surgery, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, People's Republic of China.
Background: Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family.
View Article and Find Full Text PDFMore than three million people in the United States are treated for diabetic extremity wounds every year, with numerous physical, financial, and psychosocial impacts not only to patients but also their families who care for them. This study examined the experiences of families who care for adult members with a diabetic extremity wound. A qualitative multiple case study was conducted with four family cases recruited from an urban academic medical center in the Southeastern United States, with data collection consisting of individual interviews, demographic survey instruments, and family caregiving genogram construction.
View Article and Find Full Text PDFAlzheimer Dis Assoc Disord
January 2025
Department of Psychiatry, University of Michigan, Ann Arbor, MI.
Objectives: Many individuals with dementia with Lewy bodies (DLB) die of disease-related complications, but predicting the end of life can be challenging. We identified a phenotype associated with approaching end of life.
Methods: We present 4 exemplar cases where individuals with DLB experienced refractory psychosis before death.
J Eval Clin Pract
February 2025
School of Primary and Allied Health Care, Monash University, Melbourne, Australia.
Background: Clinical practice guidelines (CPGs) are moving toward greater consideration of population-level differences, like health inequities, when creating management recommendations. CPGs have the potential to reduce or perpetuate health inequities. The intrinsic design factors of electronic interfaces that contain CPGs are known barriers to guideline use.
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