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Chloroquine- and Hydroxychloroquine-Induced Cardiomyopathy: A Case Report and Brief Literature Review.
CONCLUSION: CQ and HCQ myopathy can present following long-term administration of the drug. The pathologic findings are nonspecific and overlap with other vacuolated myopathies, necessitating careful correlation of the histologic changes with the patient's medical history. PMID: 33316045 [PubMed - as supplied by publisher]
Source: American Journal of Clinical Pathology - December 14, 2020 Category: Pathology Authors: Nadeem U, Raafey M, Kim G, Treger J, Pytel P, N Husain A, Schulte JJ Tags: Am J Clin Pathol Source Type: research

Novel heterozygous truncating titin variants affecting the A ‐band are associated with cardiomyopathy and myopathy/muscular dystrophy
ConclusionAlthough heterozygousTTNtv in the A ‐band is known to cause dilated cardiomyopathy, we present evidence that these variants may in some cases cause a novel, dominant skeletal myopathy with a limb‐girdle pattern of weakness. These findings emphasize the importance of multidisciplinary care for patients with A‐bandTTNtv who may be at risk for multisystem disease.
Source: Molecular Genetics & Genomic Medicine - August 19, 2020 Category: Genetics & Stem Cells Authors: Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck Tags: ORIGINAL ARTICLE Source Type: research

Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis
Discussion Our main finding is that LAG-3 and TIM-3 expression levels in the PBMCs of MS patients can aid to predict disease outcome. Lower LAG-3 and TIM-3 expression were associated with the worst outcome and increased likelihood to progress to SPMS, while higher LAG-3 and TIM-3 expression correlated significantly with benign prognosis, persisting RRMS, and lower EDSS score at 10 years after blood sampling. Analysis of the paraclinical and clinical parameters baseline brain MRI T2LV, EDSS at diagnosis, and 1-year progression index combined with LAG-3 and TIM-3 expression levels resulted in superior ability to identify pa...
Source: Frontiers in Immunology - April 29, 2019 Category: Allergy & Immunology Source Type: research

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T > C Mutation in the Mitochondrial MTND3 Gene
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T...
Source: Frontiers in Neurology - April 17, 2019 Category: Neurology Source Type: research

Post Mortem Findings in a Young Male with Congenital Generalized Lipodystrophy, Type 4 due to CAVIN1 mutations.
Conclusions: Our data suggest that fibro-fatty infiltration of right ventricle may contribute to CPVT in CGL4 patients. Thick muscularis mucosa and large nerves in esophagus likely contributed to dysphagia and dysmotility. Lack of spermatids suggests infertility in the affected males. PMID: 30476128 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - November 21, 2018 Category: Endocrinology Authors: Patni N, Vuitch F, Garg A Tags: J Clin Endocrinol Metab Source Type: research