11
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Enabling the disabled: Call for intercepting disability surge in Pakistan

      article-commentary

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Muscular dystrophies have always been marginalized culturally and socially, particularly in underdeveloped and developing countries. Pakistan is facing significant dearth of “appropriately” trained neurologists and neuromuscular pathologists. A careful and methodical link between clinical, pathological and molecular analysis must be established before making a diagnosis in such cases. Increased collaboration between local and international neurology societies may add value to collaborative neuromuscular research and education in Pakistan, both in community and health sectors. These goals are all achievable but require persistence, dedicated workforce, and positive efforts to meet them.

          Related collections

          Most cited references4

          • Record: found
          • Abstract: found
          • Article: not found

          Prevalence of neuromuscular diseases in Chinese children: a study in southern China.

          Our objective was to study the prevalence of neuromuscular diseases in Chinese children. A prospective study of neuromuscular diseases in Chinese children was conducted from 1985 to 2001 in Hong Kong, which is a city in southern China. The population census of June 30, 2001, was used to calculate the prevalence of neuromuscular diseases in Chinese children. Altogether, 332 children aged < 19 years at first assessment with neuromuscular diseases confirmed by using electromyography, muscle biopsy, and/or molecular genetic study were included in the study. Of these, 228 (68%) had inherited and 104 (32%) had noninherited neuromuscular diseases. Of the inherited neuromuscular diseases, the most common were the dystrophinopathies, including Duchenne muscular dystrophy (n = 66) and Becker muscular dystrophy (n = 8). Spinal muscular atrophy was the second most common (n = 61). Of the noninherited neuromuscular disorders, myasthenia gravis was the most common (n = 62, 60%). Nearly 88% of the cases of myasthenia gravis were ocular type. The prevalence rate of neuromuscular diseases in June 2001 (n = 291 surviving) is estimated to be 214 x 10(-6). The estimated prevalence rate of neuromuscular diseases in our Chinese children is 1 in 4669.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            [Improvements in the diagnosis of dystrophinopathies: what have we learnt in these last 20 years?].

            INTRODUCTION. Dystrophinopathies are X-linked genetic disorders caused by mutations in the DMD gene. Genetic tests are of utmost importance for management and genetic counseling of these diseases. However, the complexity of the DMD gene is a challenge for diagnosis. AIM. To describe recent advances in the diagnosis of dystrophinopathies, after 20 years since the firsts molecular assays for genetic screening for these diseases. DEVELOPMENT. Currently, a variety of strategies such as automated mutation detection, cell-based methods and high throughput haplotyping have been developed to facilitate diagnosis of dystrophinopathies, carrier detection, prenatal and preimplantation diagnosis. CONCLUSION. New technologies have improved early detection and optimal management of dystrophinopathies and have established the basis for future molecular medicine. The most significant advances in dystrophinopathy diagnosis are reviewed herein.
              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              Health Care Services and Government Spending in Pakistan

                Bookmark

                Author and article information

                Journal
                J Family Med Prim Care
                J Family Med Prim Care
                JFMPC
                Journal of Family Medicine and Primary Care
                Medknow Publications & Media Pvt Ltd (India )
                2249-4863
                2278-7135
                Oct-Dec 2017
                : 6
                : 4
                : 721-723
                Affiliations
                [1 ] Department of Morbid Anatomy and Histopathology, University of Health Sciences, Lahore, Pakistan
                [2 ] Department of Family Medicine, University of Health Sciences, Lahore, Pakistan
                Author notes
                Address for correspondence: Dr. Nadia Naseem, Department of Morbid Anatomy and Histopathology, University of Health Sciences, Lahore 54000, Pakistan. E-mail: drnadiaf@ 123456hotmail.com
                Article
                JFMPC-6-721
                10.4103/jfmpc.jfmpc_50_17
                5848386
                58ded5f2-ff5d-4e72-b03e-02789b9e5318
                Copyright: © 2018 Journal of Family Medicine and Primary Care

                This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

                History
                Categories
                Commentary

                disability,health policy,muscle dystrophy
                disability, health policy, muscle dystrophy

                Comments

                Comment on this article