Mohammad Reza Seyyed Taghia; Reza Jafarzadeh Esfehani; Reza Boostani; Mohammad Shariati; Ariane Sadr Nabavi
Abstract
Facioscapulohumeral muscular dystrophy is one of the most common musculoskeletal diseases with a considerable burden. Most of the affected individuals experience muscle weakness as the common muscular symptom. Despite the underlying genetic mechanism which is extensively studied, curative treatment is ...
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Facioscapulohumeral muscular dystrophy is one of the most common musculoskeletal diseases with a considerable burden. Most of the affected individuals experience muscle weakness as the common muscular symptom. Despite the underlying genetic mechanism which is extensively studied, curative treatment is not available for patients with facioscapulohumeral muscular dystrophy, and only supportive care is considered as the treatment of choice. Recently, several studies addressed the treatment of facioscapulohumeral muscular dystrophy by genetic engineering strategies, most of which indicate the effectiveness of different types of small interfering ribonucleic acids. However, these studies are still in the preclinical phase and it seems that there is a long way ahead of curing facioscapulohumeral muscular dystrophy despite recent advances in the field of genetic engineering. This study aimed to review the underlying genetic mechanism of Facioscapulohumeral muscular dystrophy alongside providing the latest preclinical studies related to the treatment of this disease.
Zahra Baghestani; Reza Boostani
Abstract
A 43-year-old male presented with diplopia and right sixth-nerve palsy. Brain magnetic resonance imaging (MRI) demonstrated a lesion in the right periventricular area. High-dose corticosteroid pulse therapy did not resolve the symptom. After one month, his diplopia progressed and he developed weakness ...
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A 43-year-old male presented with diplopia and right sixth-nerve palsy. Brain magnetic resonance imaging (MRI) demonstrated a lesion in the right periventricular area. High-dose corticosteroid pulse therapy did not resolve the symptom. After one month, his diplopia progressed and he developed weakness of the left lower limb. Detailed examination revealed left sixth-nerve palsy, dropped foot, waddling gait, atrophy of the gluteal muscles and mild atrophy and weakness of the right upper limb. Neurological examination supported evidence of multiple cranial nerve palsies along with asymmetrical peripheral neuropathy. Electrodiagnostic studies were compatible with a mononeuritis multiplex. Rheumatologic evaluations were normal. Malignancy work-up were normal, except for some insignificant lymph nodes. Bone marrow aspiration and biopsy were normal. The second brain MRI detected multiple homogenous enhancing lesions in the right periventricular area.The result of stereotactic biopsy and immunohistochemistry staining demonstrated primary B-cell CNS lymphoma (PCNSL). Mononeuritis multiplex has not been reported as a paraneoplastic manifestation of PCNSL yet. In other words, it is not clear whether involvement of the peripheral nervous system in our patient is a paraneoplastic manifestation of PCNSL or a coincidence of PCNSL and hematologic lymphoma presenting with peripheral vasculitic neuropathy. It is recommendedthat future studies focus more on symptoms associated with PCNSL to recognize the exact relationship between PCNSL and peripheral neuropathy.
Reza Boostani; Fariborz Rezaeitalab; Behzad Pourmokhtari; Amirali Ghahremani
Abstract
Obstructive sleep apnea syndrome (OSAS) is a common disorder characterized by recurrent apnea during sleep. Nocturnal laboratory-based polysomnography (PSG) is the gold standard test for diagnosis of OSA. The sufferers may complain from daytime sleepiness, snoring or occasional headaches. Serious consequences ...
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Obstructive sleep apnea syndrome (OSAS) is a common disorder characterized by recurrent apnea during sleep. Nocturnal laboratory-based polysomnography (PSG) is the gold standard test for diagnosis of OSA. The sufferers may complain from daytime sleepiness, snoring or occasional headaches. Serious consequences such as cardiovascular complications, stroke or symptoms of depression may complicate the syndrome. Headache prevalence due to sleep apnea is estimated 1%-2% in general population and affects 2%-8% of middle age population. Morning headache is more common in the OSAS patients. OSAS patients present with various characteristics of morning headache. Treatment with continuous positive airway pressure usually reduces headache. The pathophysiologic background for a relation between obstructive sleep apnea and morning headache is multifactorial. Some theories have been proposed for OSAS-related headaches such as changing oxygen saturation during sleep, cerebral vasodilation and increased intracranial pressure due to cerebral vasodilation, sleep disruption and depression but the definite cause of headaches in OSAS patients is not yet clear.
Fariba Zemorshidi; Reza Boostani; Mohammad Mehdi Etemadi
Abstract
Introduction: Human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis is a chronic progressive neurologic disease, which might be associated with brain and spinal cord atrophy and lesions. Here, we systematically reviewed the brain and spinal cord abnormalities ...
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Introduction: Human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis is a chronic progressive neurologic disease, which might be associated with brain and spinal cord atrophy and lesions. Here, we systematically reviewed the brain and spinal cord abnormalities reported by magnetic resonance imaging (MRI) modality on HTLV-1-associated myelopathy/tropical spastic paraparesis patients. Methods: PubMed was searched for all the relevant articles, which used MRI in patients with HTLV-1-associated myelopathy/tropical spastic paraparesis. Included criteria were all the cohort and case series with at least 10 patients. We had no time limitation for searched articles, but only English language articles were included in our systematic review. Exclusion criteria were none-English articles, case reports, articles with less than 10 patients, spastic paraparesis patients with unknown etiology and patients with HTLV-II. Results: Total of 14 relevant articles were extracted after studying title, abstracts and full text of the irrelevant articles. Only 2/14 articles reported brain atrophy incidence. Five out of 14 articles studied the brain lesions prevalence. Spinal cord atrophy and lesions were studied in 6/14 articles.Discussion: According to the extracted data, brain atrophy does not seem to happen frequently in patients with HTLV-1 associated myelopathy/tropical spastic paraparesis. None-specific brain lesions identified in articles are indicative of low specificity of MRI technique despite its high sensitivity. Conclusion: Prevalence of spinal cord lesions and atrophy in these patients might be due to the degenerative processes associated with aging phenomenon. Further and larger studies in endemic areas could more accurately reveal the specificity of MRI in these patients.