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Biomedical subjects

A Vasanth

Publications and source records attributed to A Vasanth.

15 recordsLinked to original sources
PubMed2001

Disabilities in children with Duchenne muscular dystrophy: a profile.

Proper assessment of disabilities is essential for rehabilitation of patients with Duchenne muscular dystrophy. The aim of this study was to identify and quantify the disabilities in children with Duchenne muscular dystrophy and correlate them with impairment. Thirty-one patients with Duchenne muscular dystrophy of age four years and above were studied. The motor functions were evaluated using total motor score, upper and lower extremity function grades and timed function tests. Disability was quantified with Barthel index. The mean scores of motor scales were: total motor score -52 +/- 7.8, total functional grade -4.4 +/- 1.9 and timed function score -12.5 +/- 5.8. Barthel index scores ranged from 45-95 with a mean of 70.8 +/- 12.7. Motor scales correlated with each other and with Barthel index. Thirty children had disabilities in multiple spheres of life, which were significantly influenced by the motor power. Barthel index was useful in identifying and quantifying specific areas of disabilities in these children. Evaluation of disabilities using specific measures may be crucial for planning comprehensive management.

Activities of Daily Living↗
PubMed2000

Centronuclear myopathy--morphological relation to developing human skeletal muscle: a clinicopathological evaluation.

Centronuclear myopathy (CNM), an uncommon condition, is one of the congenital myopathies. It is believed to arise as a result of maturational arrest, with persistence of myotubes postnatally. However, denervation being the basic disease process and its possible influence on central nervous system causing defect in nuclear migration has also been postulated. Keeping in view these existing controversies, we have studied 17 cases of CNM (neonatal - 1, childhood - 13, adulthood - 3) during the last twelve and a half years. Diagnosis was based on histological and enzyme histochemical findings of muscle biopsy along with clinical data. Ultrastructural characterstics of muscle have been studied in 10 cases. The affected muscle fibres showed a central nucleus (40-99%) with perinuclear halo. Type I fibre predominance with hypoplasia was consistently seen. Fibre type disproportion was noticed in 7 cases. The neonatal form revealed dense oxidative enzyme reaction product in the centre. The morphological features of CNM were compared with foetal skeletal muscles obtained at gestational ages ranging from 9 weeks - 36 weeks (n = 18). In the severe neonatal form th myofibres resembled the foetal myotubes. In the less severe childhood and adult form of CNM, aberrant organization of cytoskeletal network might have played a pathogenetic role in causing the disease.

Adolescent↗
PubMed1998

Correlation of clinical profile of myotonic dystrophy with CTG repeats in the myotonin protein kinase gene.

The molecular genetic analyses (PCR and Southern hybridization) of Indian patients with myotonic dystrophy (DM) were carried out to determine the degree of repeat expansion and an attempt was made to correlate the repeat number with disease severity. A scoring system based on the salient clinical features was devised to objectively assess the disease severity. The repeat expansion was seen in 11 of 12 patients examined and showed an inverse correlation with the age of onset confirming the phenomenon of anticipation. This was further established in the two pedigrees studied, clearly demonstrating both clinical and genetic anticipation. The clinical severity score, however, did not correlate well with the repeat number. Nonetheless, such molecular genetic analyses may have immense value as a screening procedure to identify premutations as well as in prenatal diagnoses.

Adolescent↗
PubMed1997

Chediak-Higashi syndrome--a case report with ultrastructural and cytogenetic study.

We report the ultrastructural abnormalities of the leukocyte granules and the cytogenetic findings in a patient of Chediak-Higashi syndrome (CHS), who presented with cutaneous melanosis as the only clinical feature. The diagnosis of CHS was established by peripheral smear and bone marrow examination. Chediak-Higashi syndrome, a rare autosomal recessive disorder is characterized by enlarged abnormal organelles in leukocytes and other cells. An interesting aspect of our patient was the absence of recurrent infections or any other clinical stigmata. Ultrastructurally, the leukocytes and their precursors in the bone marrow showed characteristic homogenous and heterogenous giant inclusions of variable sizes and shapes. These represent the primary granules which enlarge to attain the giant abnormal size by fusion with other primary or secondary granules. Cytogenic study of the bone marrow cells showed monosomy of chromosomes 8 and 17 in 20 percent of the metaphases. Neither the gene nor the chromosomal abnormalities specific for CHS have been identified as yet and thus the significance of our cytogenetic finding is presently not clear.

Bone Marrow Cells↗
PubMed1994

Critically ill Guillain Barre' syndrome.

Among the 153 patients fulfilling NINDS criteria for Guillain Barre' Syndrome (GBS) seen over 5.5 yrs, there were 47 (M:F 38.9) critically ill patients (age range 4 to 60 years). Antecedent event was recorded in 25 patients and the peak deficit was attained over a mean period of 9.5 days. Besides severe motor paralysis other salient features were: bulbar paralysis--42, sensory symptoms or signs--21, dysautonomia 31 and requirement for ventilatory assistance 45. CSF protein was raised in 63% cases. All the 17 patients who underwent electromyography had abnormalities of nerve conduction paramentes. Mean stay on the ventilator was 29.6 days and was not influenced by corticosteroid. Complications were frequent: pulmonary and urinary tract infection, dysautonomia, electrolyte disturbances, haemetmesis, bleeding from tracheostomy site and hepatic and renal failure. Mortality in steroids treated group (13/27) and the conservatively managed group (5/20) did not differ significantly. No discriminant factor emerged between survivors and non-survivors. Age and sex of the patients, presence of antecedent event, onset to peak interval and CSF protein level did not predict the need for ventilatory assistance, although these patients at admission had more frequent weakness of facial, bulbar, trunk, neck and proximal muscles of upper limbs and autonomic disturbances. Course of GBS remains unpredictable at the onset of the disease, warrants close supervision and meticulous supportive care and remains a therapeutic challenge.

Adolescent↗
PubMed1991

Acute ataxic neuropathy: a clinical, electrophysiological and morphological study.

Sensory ataxia as the chief manifestation of acute neuropathy is rather rare. Of the 224 cases of acute polyneuropathy seen over 6 years (1984-1990) only 10 patients (M:F 3:7) had disabling ataxia as the presenting feature. Their ages ranged from 14-61 years. Antecedent febrile illness was present in 6 patients and the peak deficit evolved over 2-25 days. Severe ataxia, paresthesia, distal areflexia and predominant joint sense loss were common to all, motor weakness was either absent or insignificant. CSF was acellular and revealed elevated protein in 3 subjects. All patients had electrophysiological evidence of severe sensory neuropathy with mild or no motor neuropathy. Sural nerve biopsy in one patient showed loss of large, as well as small, diameter myelinated fibres, secondary demyelination, but no evidence of inflammation. At follow up marginal to moderate improvement in ataxia was noted in only 5 patients. Absence of ophthalmoplegia and motor weakness, poor prognosis and characteristic electrophysiological and histopathological observations suggest that acute ataxic neuropathy may be a distinct entity.

Adolescent↗
PubMed1989

Trunkal tremor: orthostatic or essential?

A sixty two year old man who presented with tremors of trunk and lower limbs, appearing only on standing, is reported. The tremor frequency was 14-16 Hz and there was co-contraction of antagonistic muscles. No therapeutic benefit was noted with propranolol, primidone and diazepam. The possible pathogenesis of this rare orthostatic trunkal tremor and its relationship with essential tremor are discussed.

Aged↗
PubMedDate not supplied

Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?

Giant axonal neuropathy (GAN) and infantile neuroaxonal dystrophy (INAD) are two progressive neurodegenerative disorders of childhood that have considerable clinical as well as histological overlap but are believed to be ultrastructurally distinct. The clinicopathological and ultrastructural features of three cases of INAD, two of whom are siblings and one case of GAN are described. The sural nerve biopsies in all four cases were essentially similar on light microscopy revealing giant axons. On electron microscopy, the findings in the case of GAN were typical with dense accumulation of neurofilaments within the giant axons. In the three cases of INAD, too, in addition to accumulation of mitochondria and organelles with vesiculotubular profiles, a similar increase in neurofilaments was evident. We, therefore, believe that these two disorders may represent a spectrum in evolution of intermediate filament pathology with various organelles participating in the temporal evolution of the disease process.

Biopsy↗