Background: The Ehlers-Danlos syndrome type VI (EDSVI) is an autosomal recessive connective tissue disease which is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity and fragility, joint hypermobility and (sub-)luxations, microcornea, rupture of arteries and the eye globe, and osteopenia. The enzyme collagen lysyl hydroxylase (LH1) is deficient in these patients due to mutations in the PLOD1 gene. Case Presentation: We report a 17-year-old boy, born to related parents, with severe kyphoscoliosis, scar formation, joint hypermobility and multiple dislocations, MUSCULAR WEAKNESS, rupture of an ocular globe, and a history of severe infantile hypotonia. EDS VI was suspected clinically and confirmed by an elevated ratio of urinary total lysyl pyridinoline to hydroxylysyl pyridinoline, abnormal electrophoretic mobility of the α-collagen chains, and mutation analysis.Conclusion: Because of the high rate of consanguineous marriages in Iran and, as a consequence thereof, an increased rate of autosomal recessive disorders, we urge physicians to consider EDS VI in the differential diagnosis of severe infantile hypotonia and MUSCULAR WEAKNESS, a disorder which can easily be confirmed by the analysis of urinary pyridinolines that is highly specific, sensitive, robust, fast, non-invasive, and inexpensive.

It has recently been demonstrated that merosin-deficient CMD (Congenital MUSCULAR Dystrophy) patients have a more severe clinical phenotype compared with merosin-positive ones. We have undertaken a detailed clinical study of 6 patients (20% of CMD patients followed) with severe CMD who have never been able to stand or walk unsupported and in whom we have determined merosin status in skeletal muscle. Immunohistochemical staining demonstrated total absence of merosin in only one patient who was also found to have abnormal myelination on brain MRI. The patients first biopsy at 4 weeks of age revealed only scattered degenerating and regenerating fibers without other changes of MUSCULAR dystrophy. Second muscle biopsy at 7 months revealed severe MUSCULAR dystrophy. Merosin was absent in both biopsies. All other 5 merosin-positive severe CMD cases had normal brain imaging. In 3 cases there was no family history of the disease, but the mother of the 4th female patient had a milder form of MUSCULAR dystrophy with hypotonia since birth, suggesting an autosomal dominant mode of inheritance. Although merosin was present in all 5 patients, there were occasional fibers in 3 of them with only partial staining. This was seen predominantly in the degenerating fibers probably representing secondary rather than primary merosin deficiency. This study implies heterogeneity within a phenotypically homogeneous group of patients with a severe form of CMD. The merosin-deficient CMD appears to be less common in the studied population than in France, Turkey or England. Perhaps the increased incidence in those countries suggests a distant founder mutation, which would explain the scarcity of merosin-deficient CMD in a more heterogeneous population like studied one. Furthermore, absence of merosin in a neonate with hypotonia and WEAKNESS should lead to the diagnosis of merosin-deficient CMD, although the dystrophic process may not be evident on muscle biopsy yet.

Introduction: Rigid spine syndrome (RSS) is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature. Recently the first locus for RSS was mapped to chromosome 1p35-p36. Case: We present here a 12 year-old boy complained of generalized WEAKNESS and stiffness and gait disorder from two years ago. Who referred to Shahid Mohammadi Hospital Bandar Abbas, Iran. Flexion contracture of the elbows and loss of motion of spine and proximal WEAKNESS were the main findings. Radiographs of the affected joints were normal. ECG was normal. CPK and LDH were moderately elevated. A myopathic pattern was noted on EMG. A muscle biopsy showed extensive fiber necrosis with nuclear internalization that suggest MUSCULAR dystrophy so this case can be presented as a rare case of RSS in Iran. Conclusion: Muscle biopsy of these patients shows unspecific pathologic variations, but genetic investigation of these patients can help in definite diagnosis of the disease.

Background and Aim: Studying scientific outputs by using scientific indices is a useful tool for understanding scientific research. The purpose of this study was to visualize the international research outputs of the SMA subject Area. Materials & Methods: This study is an applied one with an analytical approach and using scientometric indices. The population present in this study includes 4217 Web Of Science database records all in the SMA area from 1946 until the end of 2018. The MeSH was used to identify keywords and Ravar PreMap software for words’ homogenization, VOSviewer, HistCite, and Excel used also. Results: Ninety-one countries involved in scientific production outputs of this subject area, were among the most influential countries in scientific collaboration. The USA has most of its collaborations with other countries. Of the 946 essential journals identified, "Human Molecular Genetics" has got the highest number of citations. The articles in the SMA Subject Area have a total of 6097 keywords, and the “ Spinal MUSCULAR Atrophy” has got the highest frequency and the core subject among the nine influential countries. The total number of articles in this area was 8505. Worthy of mentioning, Iran with 0/58% of the total scientific output ranked nine on the list. Conclusion: The upward trend of SMA scientific research trend indicates the increasing importance of this area in the world. Due to the the international growth of research in this area and the importance of the participation of international research, researchers in our country should pay more attention to scientific cooperation.

MUSCULAR Dystrophies are a group of diseases presenting with MUSCULAR WEAKNESS.Within this group, “Duchene” is a well-known one. “Syrngomyelia” is another state in this group in which «cystic» dilatation in spinal cord is associated with reduced temperature and pain, whereas vibration and deep sensation are intact. In the latter disease muscles’ tones and their reflexes are abnormal. A variety of etiologic factors have been listed for above-mentioned diseases (trauma, meningitis, spinal tumor, hindbrain herniation and idiopathy). This article presents a 12 year old boy with the chief complaint of progressive WEAKNESS in lower and upper limbs. By doing physical examination, electrodiagnostic and laboratory tests as well as genetic consultation, he was diagnosed as a patient with “Duchene” myopathy. During further evaluation including imaging studies “Idiopathic Syrngomglia” was labeled for him. It is worthwhile to mention that combination of symptoms of “Douche myopathy” and “syrngomylia” is rare.

Background and Objective: Duchenne MUSCULAR dystrophy is an X-linked genetic disorder resulting from mutation or deletion in the Dystrophin gene. The aim of this study was to evaluate the primary diagnosis of affected individuals that have been referred to the genetic lab of the Shafa hospital in Ahvaz. Progressive muscle WEAKNESS was present in all the patients.Subjects and Methods: DNA from peripheral blood was extracted from affected patients and subsequent multiplex-PCR was performed to determine putative deletions in the Dystrophin gene.Results: in 53% of cases were deletions identified in exons 44-51 in the Dystrophin gene and therefore the clinical diagnosis could be confirmed. On the other hand, we found no deletion in 47% of cases.Conclusion: it seems that the patients suffering Duchenne MUSCULAR Dystrophy in Ahvaz show, independent to their ethnicity, the gene inactivating deletion in the end part of the Dystrophin gene. These results would be used for the differential and for the prenatal diagnosis in the Khuzestan province.

Dengue fever, also known as breakbone fever, is an acute febrile infectious disease caused by the Dengue virus belonging to the arbovirus group. We report on a patient who presented with altered sensorium, giddiness, and repeated falls after discharge from the hospital following dengue fever. The patient had hypotension on admission and hyponatremia in his initial biochemistry screen. Diagnosis of hypopituitarism was made and patient responded to appropriate treatment.

Mass media are means that make mass communication possible to handle its duties. Through the exchange of information and opinions, mass media can play a significant role in shaping the world public opinion. Accordingly, we can say that in today's world, they (human beings) trapped in a world of communication and information with different information and communication tools which moved them to its predetermined goals. Today we live in an age of communication. An era characterized by an attempt to have a general belief. Advertising is a tool in the hands of media industries' owner which can have a positive impact on the audiences. It is clear that advertising and promotion have rooted in the human social life. This is an act that seller or producer tries to inform potential buyer from its production. One should say that this could have done by various methods.

Background: Pompe is a progressive and rare disease with major form (infantile form) resulted from lack of lysosomal alpha-glucosidase enzyme. This disease inherits in an autosomal recessive form and contains spectrum of different symptoms based on the age of onset. The variety of symptoms has seen in this disease like muscle WEAKNESS, cardio pulmonary problems, disability in daily routine works, and so on.Case Report: In this case study, we studied the characteristics of 7 established patients in Iran recognized from 8 years ago. The age range of these patients was from 6 months to 28 years.Conclusion: Different diagnosis time in patients, which is important, in this study was between 6 months to 28 years, which could cause many problems in patients whom their diagnosis was delayed.