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Total 224 results found since Jan 2013.

Amyloid myopathy: expanding the clinical spectrum of transthyretin amyloidosis —case report and literature review
AbstractWe identified two patients with transthyretin (ATTR) amyloid myopathy (one ATTR variant amyloidosis, ATTRv; one wild-type ATTR amyloidosis, ATTRwt). Myopathy was the initial manifestation in ATTRwt, whereas it followed neuropathy and cardiomyopathy in ATTRv. The ATTRwt patient showed muscular tracer uptake on99mTc-DPD planar scintigraphy at the time of initial diagnosis, consistent with ATTR amyloid myopathy. The ATTRv patient underwent heart transplantation because of progressive heart failure. Within the next two years, progressive myopathic symptoms and extracardiac tracer uptake on99mTc-DPD planar scintigraphy ...
Source: Journal of Nuclear Cardiology - May 17, 2022 Category: Nuclear Medicine Source Type: research

Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-{alpha}-Actinin Immunostaining
Discussion SLONM is a treatable myopathy with ASCT or traditional immunotherapy, especially when combined with steroids and immunosuppressants. Anti–α-actinin immunostaining is the most reliable pathologic marker to identify rod-bearing fibers, and it should be performed routinely in adult patients with undiagnosed nonnecrotic myopathies.
Source: Neurology Neuroimmunology and Neuroinflammation - May 17, 2022 Category: Neurology Authors: Zhao, B., Dai, T., Zhao, D., Ma, X., Zhao, C., Li, L., Sun, Y., Zhang, Y., Yan, Y., Lu, J.-Q., Liu, F., Yan, C. Tags: MRI, All Immunology, Autoimmune diseases, All Clinical Neurology, Muscle disease Research Article Source Type: research

The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders
Background and Aims: The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease. Methods: Report of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the population frequency and used in silico gene damaging predictions. Genotype-phenotype correlations were explored. Results: One hundred three patients (52% girls), from 14 publications, were included....
Source: Journal of Pediatric Gastroenterology and Nutrition - May 1, 2022 Category: Gastroenterology Tags: Original Articles: Gastroenterology Source Type: research

Major Adverse Dystrophinopathy Event Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy
Accurate assessments of heart failure (HF) severity in Duchenne Muscular Dystrophy (DMD) is challenging due to overlapping symptoms from cardiomyopathy, respiratory insufficiency, and skeletal myopathy. We developed an ordinal scale of multiorgan clinical variables and events graded for severity that reflect cumulative disease burden-the Major Adverse Dystrophinopathy Event (MADE) score. We hypothesized that a higher MADE score would be associated with increased mortality in DMD. We used the CINRG Duchenne Natural History Study (DNHS) dataset for MADE score validation.
Source: The Journal of Heart and Lung Transplantation - April 1, 2022 Category: Transplant Surgery Authors: B.D. Kaufman, A. Garcia, Z. He, M. Buu, C. Tesi-Rocha, J.W. Day, D.N. Rosenthal, H. Gordish-Dressman, C. Almond, T. Duong Tags: (200) Source Type: research

Successful Heart Transplantation in a Patient with Neonatal Marfan Syndrome
We describe a case of a teenage girl with NMS who developed inotrope-dependent heart failure secondary to dilated cardiomyopathy requiring heart transplantation.
Source: The Journal of Heart and Lung Transplantation - April 1, 2022 Category: Transplant Surgery Authors: S. Hussain, G. Geddes, R. Darragh, J.J. Parent Tags: (1285) Source Type: research

A Comparison of Short-Term Morbidity and Mortality Among Inpatient Lung Transplant Recipients Transplanted for COVID-19 and Other Restrictive Lung Diseases
Patients with respiratory failure (RF) who are hospitalized at the time of lung transplant (LTx) have higher post-LTx morbidity and mortality than those who are well enough to remain at home. Complications may be even worse in patients transplanted for COVID-19 (C19), as they are commonly critically ill having endured prolonged mechanical ventilation, ECMO support, myopathy, malnutrition, and superimposed infections. In a retrospective cohort study, we compared inpatient lung transplant recipients (LTxRs) transplanted for C19 vs.
Source: The Journal of Heart and Lung Transplantation - April 1, 2022 Category: Transplant Surgery Authors: D. Razia, M.T. Olson, R. Walia, R.M. Bremner, M.A. Smith, S. Tokman Tags: (289) Source Type: research

Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome
AbstractBarth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects inTAFAZZIN, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiogr...
Source: Pediatric Cardiology - March 3, 2022 Category: Cardiology Source Type: research

Drug ‐Drug Interaction of Letermovir and Atorvastatin in Healthy Participants
AbstractLetermovir (MK-8228/AIC246) is a cytomegalovirus (CMV) DNA terminase complex inhibitor for CMV prophylaxis in adult patients undergoing hematopoietic stem cell transplant. It is cytochrome P450 (CYP) 3A inhibitor and inhibits organic anion transporting polypeptide 1B1/3 and breast cancer resistance protein transporters. Atorvastatin (ATV), a commonly used treatment for hypercholesterolemia, is a substrate of organic anion transporting polypeptide 1B1, potentially breast cancer resistance protein, and CYP3A. As letermovir may be coadministered with ATV, the effect of multiple-dose letermovir 480 mg once daily on t...
Source: Clinical Pharmacology in Drug Development - February 14, 2022 Category: Drugs & Pharmacology Authors: Jacqueline B. McCrea, Karsten Menzel, Adedayo Adedoyin, Carolyn R. Cho, Sabrina Fox ‐Bosetti, Sreeraj Macha, Tian Zhao, Fang Liu, Deborah Panebianco, S. Aubrey Stoch, Marian Iwamoto Tags: Original Article Source Type: research

Drug-Drug Interaction of Letermovir and Atorvastatin in Healthy Participants
Clin Pharmacol Drug Dev. 2022 Feb 14. doi: 10.1002/cpdd.1071. Online ahead of print.ABSTRACTLetermovir (MK-8228/AIC246) is a cytomegalovirus (CMV) DNA terminase complex inhibitor for CMV prophylaxis in adult patients undergoing hematopoietic stem cell transplant. It is cytochrome P450 (CYP) 3A inhibitor and inhibits organic anion transporting polypeptide 1B1/3 and breast cancer resistance protein transporters. Atorvastatin (ATV), a commonly used treatment for hypercholesterolemia, is a substrate of organic anion transporting polypeptide 1B1, potentially breast cancer resistance protein, and CYP3A. As letermovir may be coad...
Source: Clinical Genitourinary Cancer - February 14, 2022 Category: Cancer & Oncology Authors: Jacqueline B McCrea Karsten Menzel Adedayo Adedoyin Carolyn R Cho Sabrina Fox-Bosetti Sreeraj Macha Tian Zhao Fang Liu Deborah Panebianco S Aubrey Stoch Marian Iwamoto Source Type: research

Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect
Thromb Haemost. 2022 Jan 20. doi: 10.1055/s-0041-1742207. Online ahead of print.ABSTRACTThe GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated with Nonaka myopathy and sialuria, following an autosomal recessive and autosomal dominant inheritance pattern. Reports show that single GNE variants cause severe thrombocytopenia without muscle weakness. Using panel sequencing, we identified two novel compound heterozygous variants in GNE in a young girl with life-threatening bleedings, severe congenital thrombocy...
Source: Thrombosis and Haemostasis - January 20, 2022 Category: Hematology Authors: Barbara Zieger Doris Boeckelmann Waseem Anani Herv é Falet Jieqing Zhu Hannah Glonnegger Hermann Full Felicia Andresen Miriam Erlacher Ekkehart Lausch Salome Fels Brigitte Strahm Peter Lang Karin M Hoffmeister Source Type: research

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