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Condition: Cardiomyopathy
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Total 870 results found since Jan 2013.
Scleroderma Renal Crisis is Associated with High Mortality: A Real-World Study from India
CONCLUSION: In this single-centre study from a developing country, scleroderma renal crisis was associated with a dismal prognosis, despite the use of ACEI. The recent use of medium-high dose glucocorticoids was associated with SRC.PMID:34781657
Source: Journal of the Association of Physicians of India - November 16, 2021 Category: General Medicine Authors: Preksha Dwivedi Adarsh Mb Nupoor Acharya Raja Ramachandran Ritambhra Nada Shankar Naidu Shefali K Sharma Aman Sharma Sanjay Jain Varun Dhir Source Type: research
LUBAC: a new player in polyglucosan body disease
We present a comprehensive review of LUBAC structure, its role in M1-linked and other types of atypical ubiquitination, PB pathology in human patients and findings in new mouse models to study the disease. We conclude the review with recent drug developments and near-future gene-based therapeutic approaches to treat LUBAC related PB disease.PMID:34709403 | DOI:10.1042/BST20210838
Source: Biochemical Society Transactions - October 28, 2021 Category: Biochemistry Authors: Andrew Aboujaoude Berge Minassian Sharmistha Mitra Source Type: research
Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors
Filamin C (FLNC) is a homodimeric protein encoded by the FLNC gene (7q32.1) containing 47 coding exons (NM_001458.4), which is predominantly expressed in skeletal and cardiac muscles. Pathological mutations in FLNC have been reported in both the dominant form of myofibrillar myopathy (MFM5: OMIM 609524) [1,2] and distal myopathy (MPD4: OMIM 614065) [3,4]. However, pathogenic variants have also been linked to hypertrophic, restrictive, and dilated cardiomyopathies (CMH26: OMIM 617047 [5], RCM5: OMIM 617047 [6, 7]).
Source: Neuromuscular Disorders - October 8, 2021 Category: Neurology Authors: Tsuyoshi Matsumura, Kimiko Inoue, Keiko Toyooka, Michio Inoue, Aritoshi Iida, Yoshihiko Saito, Tatsuya Nishikawa, Kenji Moriuchi, Goichi Beck, Ichizo Nishino, Harutoshi Fujimura Tags: Case report Source Type: research
Features of myocardial injury detected by cardiac magnetic resonance in a patient with desmin ‐related restrictive cardiomyopathy
AbstractMyocardial fibrosis detected by cardiac magnetic resonance (CMR) has been reported in patients with desmin-related myopathy, although its characteristics remain unclear. Here, we describe a case of desmin-related restrictive cardiomyopathy wherein CMR imaging revealed myocardial oedema, ischaemia, and fibrosis in the left ventricle; the different types and processes of myocardial injury were detected by CMR. Middle wall left ventricular enhancement may be a feature of late gadolinium enhancement, and the lateral wall is often involved in cases of myocardial injury. CMR is useful for the early detection of cardiac i...
Source: ESC Heart Failure - October 6, 2021 Category: Cardiology Authors: Zixian Chen,
Rui Li,
Yongxiang Wang,
Liang Cao,
Chen Lin,
Feng Liu,
Rui Hu,
Jiang Nan,
Xin Zhuang,
Xiande Lu,
Guangxian Nan,
Guocui Hu,
Jingmei Xue,
Yaping Zhang,
Jing Xiao,
Yali Yao,
Shunlin Guo,
Junqiang Lei Tags: Case Report Source Type: research
“Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II”: Case Report
We present a five-month-old developmentally normal female child with acute encephalopathy, hypotonia, non-ketotic hypoglycemia, metabolic acidosis, and liver failure, with a history of sibling death of suspected inborn error of metabolism. The blood acyl-carnitine levels in Tandem Mass Spectrometry and urinary organic acid analysis through Gas Chromatography –Mass Spectrometry were unremarkable. The patient initially responded to riboflavin, CoQ, and supportive management but ultimately succumbed to sepsis with shock and multi-organ dysfunction. The clinical exome sequencing reported a homozygous missense variation in ex...
Source: Indian Journal of Clinical Biochemistry - September 27, 2021 Category: Biochemistry Source Type: research
