Abstract:
BACKGROUND:Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. OBJECTIVE:A retrospective reassessment of cases diagnosed as CMs to look for multiple pathologies missed, if any, during the initial diagnosis. MATERIALS AND METHODS:Enzyme histochemical, and immunohistochemical-stained slides from 125 cases diagnosed as congenital myopathy were reassessed. RESULTS:The study revealed 15 cases (12%) of congenital myopathy with more than one morphological feature. Central nucleus with cores (n = 11), central nucleus, nemaline rods and cores (n = 3), and nemaline rods with cores (n = 1). 4/11 cases were diagnosed as centronuclear myopathy (CNM) in the first instance; in addition, cores were revealed on reassessment. DISCUSSION:The prevalence of CMs of all neuromuscular disorders is approximately 6 in 100,000 live births, with regional variations. Three main defined CMs include centro nuclear myopathy (CNM), nemaline rod myopathy (NRM), and central core disease (CCD). However, they are more diverse with overlapping clinical and histopathological features, thus broadening the spectra within each category of congenital myopathy. CONCLUSION:Identification of cases with overlap of pathological features has diagnostic relevance.
journal_name
Ann Indian Acad Neuroljournal_title
Annals of Indian Academy of Neurologyauthors
Dhinakaran S,Kumar RS,Thakkar R,Narayanappa Gdoi
10.4103/0972-2327.176861subject
Has Abstractpub_date
2016-04-01 00:00:00pages
201-4issue
2eissn
0972-2327issn
1998-3549pii
AIAN-19-201journal_volume
19pub_type
杂志文章abstract::We report a case of rabies viral encephalitis in a 48-year-old male with an unusually long incubation period, historically suspected to be more than 20 years. The case was referred for histological diagnosis following alleged medical negligence to the forensic department. The histology and immunocytochemical demonstra...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.99728
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abstract::Lumbar puncture in the presence of an intracranial tumor with raised intracranial pressure is known to have catastrophic consequences due to herniation of intracranial contents through the tentorial hiatus or foramen magnum. There are relatively few case reports about the same sequence of events when lumbar puncture i...
journal_title:Annals of Indian Academy of Neurology
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doi:10.4103/0972-2327.116935
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abstract::Lhermitte's sign was described by Marie and Chatelin and named after Jean Lhermitte. This sign is mostly described as an electric shock like condition by some patients of multiple sclerosis. This sensation occurs when the neck is moved in a wrong way or rather flexed. It can also travel down to the spine, arms, and le...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.175435
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abstract::Medical education in India is expected to undergo a significant reform after the introduction of the National Medical Commission Act. Single, nationwide National Exit Test (NEXT) is an essential provision under this act, which will be implemented during the next three years. It aims to bring about uniformity in the mi...
journal_title:Annals of Indian Academy of Neurology
pub_type: 社论
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abstract::Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements, postures, or both. Dystonic movements are typically patterned, associated with twisting of body parts, and may have tremulousness. Dystonia is usually initiated or worsened by vo...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_27_20
更新日期:2020-07-01 00:00:00
abstract::The medical profession is considered to be one of the noblest professions in the world. The practice of medicine is capable of rendering noble service to humanity provided due care, sincerity, efficiency, and professional skill is observed by the doctors. However, today, the patient-doctor relationship has almost dimi...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章,评审
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更新日期:2016-10-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to investigate Iintra-rater reliability of the Modified Tardieu Scale (MTS) in elbow flexors and ankle plantar flexors in adult subjects with stroke. MATERIALS AND METHODS:A total of 91 subjects with stroke participated in this test-retest study. Intra-rater reliability of the ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.78045
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India. This study was undertaken to study the clinical presentations, metabolic profile, neuroim...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.93273
更新日期:2012-01-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.99708
更新日期:2012-07-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.144035
更新日期:2014-10-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.144008
更新日期:2014-10-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.107705
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_44_17
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_389_17
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.175437
更新日期:2016-01-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_369_16
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
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journal_title:Annals of Indian Academy of Neurology
pub_type:
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/aian.AIAN_233_18
更新日期:2020-01-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.112461
更新日期:2013-04-01 00:00:00
abstract::Three cases with manifestations of right heart failure, shock, metabolic acidosis, and renal failure in varying combination were admitted with paraparesis. Nerve conduction study suggested predominantly motor and mainly axonal type of neuropathy. Rapid reversal of shock, acidosis, and multi-organ dysfunction with time...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.120467
更新日期:2013-10-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_341_18
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.176866
更新日期:2016-04-01 00:00:00
abstract::The global workspace of consciousness was proposed in its elementary framework by Baars, in 1982. Since the time of inception, there have been many speculations and modifications of this theory, but the central theme has remained the same, which refers to the global availability of information in the brain. However, t...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.42933
更新日期:2008-07-01 00:00:00
abstract::Stroke in young poses a major health problem. Thrombophilic factors have been implicated in 4-8% of the young strokes worldwide. Protein S deficiency is a rare cause of recurrent ischemic stroke in young population. Only a few sporadic cases have been described in the literature. We are reporting a case of protein S d...
journal_title:Annals of Indian Academy of Neurology
pub_type:
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.70884
更新日期:2010-07-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.194413
更新日期:2016-10-01 00:00:00