scholarly journals Muscular Dystrophies

2020 ◽  
Vol 11 (2) ◽  
Author(s):  
Sathasivam S
Keyword(s):  
Clinical Features ◽  
Neuromuscular Disorders ◽  
Management Strategies ◽  
Muscular Dystrophies ◽  
Made In

Huge strides have been made in the last two decades in our understanding of muscular dystrophies. This has led to better classification of this group of heterogeneous neuromuscular disorders based on clinical features, investigation results, and molecular and genetic pathophysiology. This review aims to discuss the major forms of muscular dystrophies, the useful investigations to diagnose them and the management strategies available at present.

scholarly journals Unmet needs and evolving treatment for limb girdle muscular dystrophies

2021 ◽  
Author(s):  
Eric Pozsgai ◽  
Danielle Griffin ◽  
Rachael Potter ◽  
Zarife Sahenk ◽  
Kelly Lehman ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Clinical Trials ◽  
Experimental Studies ◽  
Muscular Dystrophies ◽  
Muscle Disorders ◽  
Autosomal Recessive Disorders ◽  
Recessive Disorders ◽  
Single Dosing ◽  
Made In

Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. Treatment is sorely needed and currently expanding based on safety and efficacy adopting principles of single-dosing gene therapy for monogenic autosomal recessive disorders. Gene therapy has made in-roads for LGMD and this review describes progress that has been achieved for these conditions. This review first provides a background on the definition and classification of LGMDs. The major effort focuses on progress in LGMD gene therapy, from experimental studies to clinical trials. The disorders discussed include the LGMDs where the most work has been done including calpainopathies (LGMD2A/R1), dysferlinopathies (LGMD2B/R2) and sarcoglycanopathies (LGMD2C/R5, LGMD2D/R3, LGMD2E/R4). Early success in clinical trials provides a template to move the field forward and potentially apply emerging technology like CRISPR/Cas9 that may enhance the scope and efficacy of gene therapy applied to patient care.

Metabolic disease and neuromuscular disorders

2020 ◽  
pp. 287-324
Author(s):  
Perry Elliott ◽  
Pier D. Lambiase ◽  
Dhavendra Kumar
Keyword(s):  
Metabolic Disease ◽  
Family History ◽  
Muscular Dystrophy ◽  
Myotonic Dystrophy ◽  
Clinical Features ◽  
Metabolic Diseases ◽  
Neuromuscular Disorders ◽  
Muscular Dystrophies ◽  
Inherited Metabolic Diseases ◽  
Cardiac Symptoms

This chapter covers metabolic diseases and neuromuscular disorders. A number of inherited neuromuscular disorders may manifest with cardiac symptoms or signs. This chapter covers the most common muscular dystrophies with prominent cardiac involvement (including Duchenne, Becker, myotonic dystrophy, Emery–Dreifuss muscular dystrophy (EDMD) 1 and EDMD2, and limb girdle muscular dystrophy 2I along with clinical presentation, family history, and investigations. The chapter then goes on to general issues in inherited metabolic diseases, and their associated cardiac features. Clinical features, diagnosis, and treatment are described for each example.

Limnological characteristics, community metabolism and management strategies of a coastal sinkhole in Cuba (Cenote Jennifer)

2020 ◽  
Vol 56 ◽  
pp. 24
Author(s):  
Roberto González-De Zayas ◽  
Liosban Lantigua Ponce de León ◽  
Liezel Guerra Rodríguez ◽  
Felipe Matos Pupo ◽  
Leslie Hernández-Fernández
Keyword(s):  
Hydrogen Sulfide ◽  
Primary Productivity ◽  
Major Ions ◽  
Saline Water ◽  
Management Strategies ◽  
Tourist Destination ◽  
Community Metabolism ◽  
Morphological Studies ◽  
Made In ◽  
Limnological Parameters

The Cenote Jennifer is an important and unique aquatic sinkhole in Cayo Coco (Jardines del Rey Tourist Destination) that has brackish to saline water. Two samplings were made in 1998 and 2009, and 4 metabolism community experiments in 2009. Some limnological parameters were measured in both samplings (temperature, salinity, pH, dissolved oxygen major ions, hydrogen sulfide, nutrients and others). Community metabolism was measured through incubated oxygen concentration in clear and dark oxygen bottles. Results showed that the sinkhole limnology depends on rainfall and light incidence year, with some stratification episodes, due to halocline or oxycline presence, rather than thermocline. The sinkhole water was oligotrophic (total nitrogen of 41.5 ± 22.2 μmol l−1 and total phosphorus of 0.3 ± 0.2 μmol l−1) and with low productivity (gross primary productivity of 63.0 mg C m−2 d−1). Anoxia and hypoxia were present at the bottom with higher levels of hydrogen sulfide, lower pH and restricted influence of the adjacent sea (2 km away). To protect the Cenote Jennifer, tourist exploitation should be avoided and more resources to ecological and morphological studies should be allocated, and eventually use this aquatic system only for specialized diving. For conservation purposes, illegal garbage disposal in the surrounding forest should end.

ASPECTS IN BUILDING A COMPANY WEB-SITE AND ITS ROLE FOR THE DEVELOPMENT OF BUSINESS

2018 ◽  
pp. 117-124
Author(s):  
Petar Halachev ◽  
Victoria Radeva ◽  
Albena Nikiforova ◽  
Miglena Veneva
Keyword(s):  
Life Cycle ◽  
Web Site ◽  
The Internet ◽  
A Company ◽  
The Web ◽  
Design Construction ◽  
Made In ◽  
Site Types

This report is dedicated to the role of the web site as an important tool for presenting business on the Internet. Classification of site types has been made in terms of their application in the business and the types of structures in their construction. The Models of the Life Cycle for designing business websites are analyzed and are outlined their strengths and weaknesses. The stages in the design, construction, commissioning, and maintenance of a business website are distinguished and the activities and requirements of each stage are specified.

Vegetation on technogenic habitats in the far-north taiga and south forest-tundra of the European North-East of Russia. Alliance Chamerio angustifolii–Matricarion hookeri A. Ishbirdin et al. 1996

2019 ◽  
pp. 77-94
Author(s):  
I. A. Likhanova ◽  
G. S. Shushpannikova ◽  
L. P. Turubanova
Keyword(s):  
Komi Republic ◽  
Oil Fields ◽  
Soil Enrichment ◽  
Far North ◽  
North East ◽  
European North ◽  
Ecological Scales ◽  
Floristic Classification ◽  
Made In

The results of floristic classification of technogenic vegetation (alliance Chamerio angustifolii–Matricarion hookeri A. Ishbirdin et al. 1996, order Chamerio–Betuletalia nanae Khusainov et al. in Sumina 2012, class Matricario–Poetea arcticae A. Ishbirdin in Sumina 2012) conducted by the Braun-Blanquet method (Braun-Blanquet, 1964; Mirkin, Naumova, 1998) are given. 98 geobotanical relevés, made in 1981–2013 on areas of oil fields and suburbs of the Usinsk city (Komi Republic) (56–60о N, 67–66о E), were involved into analysis (Fig. 1). The ecological parameters like moisture (F) and mineral nitrogen soil enrichment (N) were assessed using the Ellenberg ecological scales (Ellenberg, 1974).

scholarly journals Stroke Prevention in Atrial Fibrillation: Where are We Now?

2012 ◽  
Vol 6 ◽  
pp. CMC.S8976 ◽  
Author(s):  
Yousif Ahmad ◽  
Gregory Y.H. Lip
Keyword(s):  
Atrial Fibrillation ◽  
Stroke Prevention ◽  
Management Strategies ◽  
Bleeding Risk ◽  
Long Term Study ◽  
Risk Patients ◽  
First Time ◽  
Major Progress ◽  
Made In

Atrial fibrillation is the commonest arrhythmia worldwide and is a growing problem. AF is responsible for 25% of all strokes, and these patients suffer greater mortality and disability. Warfarin has traditionally been the only successful therapy for stroke prevention, but its limitations have resulted in underutilisation. Major progress has been made in AF research, leading to improved management strategies. Better risk stratification permits identification of truly low-risk patients who do not require anticoagulation and we are able to simplify ourevaluation of a patient's bleeding risk. The advent of novel anticoagulants means warfarin is no longer the only choice for stroke prophylaxis. These drugs circumvent many of warfarin's inconveniences, but only long-term study and use will conclusively demonstrate how they compare to warfarin. The landscape of stroke prevention in AF has changed with effective alternatives to warfarin available for the first time in 60 years—but each new option brings new considerations.

LIMB-GIRDLE MUSCULAR DYSTROPHY: ITS LARGER SIGNIFICANCE

PEDIATRICS ◽  
1968 ◽  
Vol 41 (2) ◽  
pp. 382-384
Author(s):  
S. C.
Keyword(s):  
Peripheral Nerves ◽  
Neuromuscular Disorders ◽  
Serum Enzymes ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Muscular Weakness ◽  
Conduction Velocities ◽  
Clinical Awareness ◽  
Muscle Biopsies

The current literature reflects the interest of pediatricians, neurologists, and internists in the neuromuscular disorders of childhood.1-5 Clinical awareness and the availability and refinement of ancillary procedures, such as electromyography, measurement of nerve conduction velocities, determination of serum enzymes and muscle biopsies, have made it possible to differentiate many of these conditions and correctly localize the pathology of these lower motor neuron disorders to the anterior horn cells, the peripheral nerves, and/or the muscles.1 Primary muscle disease is the most frequent cause of progressive muscular weakness in children with neuromuscular disorders.2 The primary myopathies are either hereditary or acquired. The muscular dystrophies and the myotonic syndrome are representative of the genetic variety, while the acquired disorders are recognized clinically as polymyositis and dermatomyositis.

Neonatal Cholestasis: Updates on Diagnostics, Therapeutics, and Prevention

NeoReviews ◽  
2021 ◽  
Vol 22 (12) ◽  
pp. e819-e836
Author(s):  
Amy G. Feldman ◽  
Ronald J. Sokol
Keyword(s):  
Liver Disease ◽  
Biliary Atresia ◽  
Young Infant ◽  
Management Strategies ◽  
Bloodstream Infections ◽  
Cost Effective ◽  
Central Line ◽  
Primary Indication ◽  
Effective Diagnosis ◽  
Made In

Cholestatic jaundice is a common presenting feature of hepatobiliary and/or metabolic dysfunction in the newborn and young infant. Timely detection of cholestasis, followed by rapid step-wise evaluation to determine the etiology, is crucial to identify those causes that are amenable to medical or surgical intervention and to optimize outcomes for all infants. In the past 2 decades, genetic etiologies have been elucidated for many cholestatic diseases, and next-generation sequencing, whole-exome sequencing, and whole-genome sequencing now allow for relatively rapid and cost-effective diagnosis of conditions not previously identifiable via standard blood tests and/or liver biopsy. Advances have also been made in our understanding of risk factors for parenteral nutrition–associated cholestasis/liver disease. New lipid emulsion formulations, coupled with preventive measures to decrease central line–associated bloodstream infections, have resulted in lower rates of cholestasis and liver disease in infants and children receiving long-term parental nutrition. Unfortunately, little progress has been made in determining the exact cause of biliary atresia. The median age at the time of the hepatoportoenterostomy procedure is still greater than 60 days; consequently, biliary atresia remains the primary indication for pediatric liver transplantation. Several emerging therapies may reduce the bile acid load to the liver and improve outcomes in some neonatal cholestatic disorders. The goal of this article is to review the etiologies, diagnostic algorithms, and current and future management strategies for infants with cholestasis.

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