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Ebstein Anomaly in the Adult Patient
Ebstein anomaly is a congenital malformation involving primarily the tricuspid valve, with failure of delamination from the underlying myocardium and right ventricular myopathy. Echocardiography is diagnostic in most patients and demonstrates apical displacement of the septal leaflet and variable tethering of leaflet tissue to the right ventricular myocardium. Operative intervention is considered for exertional symptoms, progressive right ventricular enlargement, or right ventricular dysfunction. Tricuspid valve cone repair is the preferred surgical approach. Tricuspid valve replacement and bidirectional cavopulmonary shun...
Source: Cardiology Clinics - June 4, 2020 Category: Cardiology Authors: Margaret M. Fuchs, Heidi M. Connolly Source Type: research

Insights into Design of p97-targeting Small Molecules from Structural Studies on p97 Functional Mechanism.
Abstract p97, also known as valosin-containing protein or CDC48, is a member of the AAA+ protein family that is highly conserved in eukaryotes. It binds to various cofactors in the body to perform its protein-unfolding function and participates in DNA repair, degradation of subcellular membrane proteins, and protein quality control pathways, among other processes. Its malfunction can lead to many diseases, such as inclusion body myopathy, associated with Paget's disease of bone and/or frontotemporal dementia, amyotrophic lateral sclerosis disease, and others. In recent years, many small molecule inhibitors have be...
Source: Current Medicinal Chemistry - October 3, 2019 Category: Chemistry Authors: Sui X, Pan M, Li YM Tags: Curr Med Chem Source Type: research

A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film
Dysferlin is encoded by the DYSF gene on chromosome 2p13 as a protein of approximately 237 kDa. Dysferlin is widely expressed, but it predominates at the sarcolemma of striated muscle [1] where it is involved in membrane repair [2,3], regeneration [4] and differentiation [5]. Mutations in DYSF cause the autosomal recessive muscular disorders limb girdle muscular dystrophy R2 (LGMDR2 dysferlin-related, formerly LGMD2B, OMIM 253601), Miyoshi Myopathy (OMIM 254130), distal myopathy with anterior tibial onset (OMIM 606768) and congenital muscular dystrophy [1,6 –8].
Source: Neuromuscular Disorders - September 12, 2019 Category: Neurology Authors: Daniel Cox, Matthew Henderson, Volker Straub, Rita Barresi Source Type: research

Mechanism of Hydrogen Sulfide Preconditioning-Associated Protection Against Ischemia-Reperfusion Injury Differs in Diabetic Heart That Develops Myopathy.
Abstract Hydrogen sulfide (H2S) is reported to be effective in the management of the myocardial ischemia-reperfusion (I/R) injury via PI3K/GSK3β pathway in normal rats. However, its efficacy against I/R in the presence of diabetic cardiomyopathy is relatively obscure. Thus, the present work aimed to find out H2S-mediated cardioprotection against I/R in diabetic cardiomyopathy and to evaluate its mode of action using Langendorff isolated heart perfusion system. The present work includes three groups of rat, viz. (i) normal, (ii) diabetes mellitus (DM: streptozotocin: 35 mg/kg; normal diet), and (iii) diabetes +...
Source: Cardiovascular Toxicology - July 16, 2019 Category: Cardiology Authors: Ansari M, Kurian GA Tags: Cardiovasc Toxicol Source Type: research

A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis: A case report
Conclusion: Here, we presented a rare case of de novo mutation of the myosin head domain in the MYH7 gene. This report broadens both the phenotypic and genotypic spectra of MYH7-related myopathies.
Source: Medicine - July 1, 2019 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Corticospinal Tract Integrity and Long-Term Hand Function Prognosis in Patients With Stroke
Conclusions: The present study showed that CST integrity (at 6 months after onset) in patients with chronic stroke was related to functional hand status. In addition, the mid-pons FA value was more predictive of functional restoration of the hand than the FN or FA value at the pontomedullary junction. These results may be useful in predicting the functional restoration of the hand and understanding the functional prognosis of stroke. Introduction Restoration of hand function is one of the most important goals for patients with stroke (1). Thus, techniques that aid in predicting restoration of hand function are also i...
Source: Frontiers in Neurology - April 14, 2019 Category: Neurology Source Type: research

Ebstein's Anomaly.
Abstract Ebstein's anomaly is a malformation of the tricuspid valve with myopathy of the right ventricle (RV) that presents with variable anatomic and pathophysiologic characteristics, leading to equally variable clinical scenarios. Medical management and observation is often recommended for asymptomatic patients and may be successful for many years. Tricuspid valve repair is the goal of operative intervention; repair also typically includes RV plication, right atrial reduction, and atrial septal closure or subtotal closure. Postoperative functional assessments generally demonstrate an improvement or relative stab...
Source: Methodist DeBakey Cardiovascular Journal - March 31, 2019 Category: Cardiology Authors: Holst KA, Connolly HM, Dearani JA Tags: Methodist Debakey Cardiovasc J Source Type: research

A functional human motor unit platform engineered from human embryonic stem cells and immortalized skeletal myoblasts.
Conclusion: We established a functional human motor unit platform for in vitro investigations. Thus, this co-culture system can be used as a novel platform for 1) drug discovery in the treatment of neuromuscular disorders, 2) deciphering vital features of NMJ formation, regulation, maintenance, and repair, and 3) exploring neuromuscular diseases, age-associated degeneration of the NMJ, muscle aging, and diabetic neuropathy and myopathy. PMID: 30519053 [PubMed]
Source: Stem Cells and Cloning: Advances and Applications - December 8, 2018 Category: Stem Cells Tags: Stem Cells Cloning Source Type: research

A Review of Mathematical Models for Muscular Dystrophy: A Systems Biology Approach
Discussion With new developments in computational power and data availability, a growing amount of research is using a systems biology approach to understand pathogenesis and progression of disease. Effective and integrated in vitro and in silico models could inform biological phenomena, even without the need of a living subject. For instance, over the last few decades, collagen hydrogel with muscle derived cells (CHMDCs) have promised to revolutionize in vitro experiments and tissue engineering. For CHMDCs to reach the envisioned use, verification by use of mathematical simulations are needed. Recently while examining sha...
Source: PLOS Currents Muscular Dystrophy - February 16, 2018 Category: Neurology Authors: Matthew Houston Source Type: research

GSE103270 Transcriptional profile in dermal fibroblasts from patients with collagen VI related muscular dystrophy
Contributors : Russell J Butterfield ; Robert B WeissSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensObjectives: The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies, but the pathogenesis, including the role of mutant collagen VI in the matrix is poorly understood. To better define the pathways disrupted by mutations in collagen VI, we have used a transcriptional profiling approach with RNA-Seq to identify differentially expressed genes in COL6-RD patient...
Source: GEO: Gene Expression Omnibus - December 4, 2017 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Novel binding partner of dysferlin is required for plasma-membrane repair
Mutations in the dysferlin gene are responsible for adult-onset, progressive, and recessively inherited muscular dystrophies called dysferlinopathy, which has two main phenotypes: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. The dysferlin is composed of 55 exons encoding for 2,080 amino acids. The dysferlin protein is expressed in the plasma membrane of skeletal muscles and has been reported to be involved in calcium-mediated membrane fusion and repair. We previously reported over 50 different mutations across the entire dysferlin and are focusing on these dysferlin and dysferlin-related proteins.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: H. Ono, N. Suzuki, S. Kanno, R. Izumi, T. Takahashi, Y. Kitajima, S. Osana, T. Akiyama, K. Ikeda, T. Shijo, S. Mitsuzawa, H. Warita, R. Nagatomi, N. Araki, A. Yasui, K. Miyake, M. Aoki Source Type: research

Tropomodulins and Leiomodins: Actin Pointed End Caps and Nucleators in Muscles.
Abstract Cytoskeletal structures characterized by actin filaments with uniform lengths, including the thin filaments of striated muscles and the spectrin-based membrane skeleton, use barbed and pointed-end capping proteins to control subunit addition/dissociation at filament ends. While several proteins cap the barbed end, tropomodulins (Tmods), a family of four closely related isoforms in vertebrates, are the only proteins known to specifically cap the pointed end. Tmods are ∼350 amino acids in length, and comprise alternating tropomyosin- and actin-binding sites (TMBS1, ABS1, TMBS2, and ABS2). Leiomodins (Lmod...
Source: Biophysical Journal - May 9, 2017 Category: Physics Authors: Fowler VM, Dominguez R Tags: Biophys J Source Type: research

Large vessel vasculitis: a rare cause of isolated lower limb myopathy
Conclusions A thorough work up led to the diagnosis of polyarteritis nodosa as the cause of this patient’s isolated lower limb myopathy. No literature was found on this rare presentation of vasculitis.
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 8, 2017 Category: Neurosurgery Authors: El-Wahsh, S., Weerasinghe, D., McDougall, A. Tags: Abstracts Source Type: research

Tanshinol Alleviates Osteoporosis and Myopathy in Glucocorticoid-Treated Rats
In this study, we aimed to investigate whether tanshinol has potential therapeutic effects against glucocorticoid-induced osteoporosis and glucocorticoid-induced myopathy. Ninety-six female Sprague-Dawley rats were randomly assigned to five groups: a control group, a model group, and three model groups treated with 25 or 50 mg/kg of tanshinol, or calcitriol. All model groups received prednisone acetate for 90 days to induce glucocorticoid-induced osteoporosis. Afterwards, all animals underwent a surgical procedure to induce bone defects at the right proximal tibia. Prednisone treatment was stopped after surgery, but tans...
Source: Planta Medica - April 20, 2017 Category: Drugs & Pharmacology Authors: Chen, Guanghua Zhang, Xinle Lin, Han Huang, Guizhi Chen, Yahui Cui, Liao Tags: Original Papers Source Type: research

A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment
Dysferlinopathy is a type of myopathy with predominant deficiency of the dysferlin protein caused by mutations in the DYSF gene. The patients have defective skeletal muscle membrane repair. Dysferlinopathy is a spectrum of autosomal recessive neuromuscular disorders. To date, more than 450 different mutations have been reported in the DYSF gene, most being missense or nonsense mutations (http://www.dmd.nl). Because of the relatively acute onset and the remarkable inflammatory changes observable in muscle biopsies, dysferlinopathy has a big chance of being misdiagnosed as an inflammatory myopathy, and the patient consequent...
Source: Journal of the Neurological Sciences - February 25, 2017 Category: Neurology Authors: Li Di, Yuqing Guan, Xin-Ming Shen, Yuwei Da Tags: Letter to the Editor Source Type: research

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