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Biomedical subjects

M V Padma

Publications and source records attributed to M V Padma.

At least 37 records · Page 2Linked to original sources

Electrophysiological evaluation of 140 hands with carpal tunnel syndrome.

AIM: To study various electrophysiological parameters in clinically suspected carpal tunnel syndrome (CTS). MATERIAL AND METHODS: Electrophysiological (EPS) evaluation of 70 patients (140 hands) of clinically suspected CTS was done as per AAEM recommendation. EPS grading was done as described by Padua, et al. RESULTS: The mean age was 44.21 +/- 10.29 (range 24-66) years with female predominance (M:F 3:11). Sixty four (91.4%) patients had bilateral involvement. The mean EPS grade was 3.18 +/- 1.41. One hundred and six (75.5%) hands had moderate to severe (EPS grade 1-3) CTS. Median distal motor latency (DML) (mean 4.76 +/- 1.4 msec) was prolonged in 92 (65.71%) hands and was not recordable in seven (5%) hands. Median sensory distal latency (SDL) (mean 3.54 +/- 0.82 msec) was prolonged in 38 (27.1%) hands and not recordable in 49 (35%) hands. Sensory median mid-palm latency (MPL) (2.42 +/- 0.56 msec) was commonest EPS abnormality present in 128 (91.4%) hands. EMG was abnormal in 75% hands. CONCLUSION: This study suggests incorporation of median sensory midpalm latency as a screening test for electrophysiological diagnosis of CTS. In addition, bilateral studies are recommended as there is bilateral involvement in 64 patients.

Adult↗

Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation.

Expansion of CTG/CAG trinucleotide repeats has been shown to cause a number of autosomal dominant cerebellar ataxias (ADCA) such as SCA1, SCA2, SCA3/ MJD, SCA6, SCA7, SCA8 and DRPLA. There is a wide variation in the clinical phenotype and prevalence of these ataxias in different populations. An analysis of ataxias in 42 Indian families indicates that SCA2 is the most frequent amongst all the ADCAs we have studied. In the SCA2 families, together with an intergenerational increase in repeat size, a horizontal increase with the birth order of the offspring was also observed, indicating an important role for parental age in repeat instability. This was strengthened by the detection of a pair of dizygotic twins with expanded alleles showing the same repeat number. Haplotype analysis indicates the presence of a common founder chromosome for the expanded allele in the Indian population. Polymorphism of CAG repeats in 135 normal individuals at the SCA loci studied showed similarity to the Caucasian population but was significantly different from the Japanese population.

Female↗

Neurological evaluation and intelligence testing in the child with operated congenital heart disease.

BACKGROUND: The immediate and intermediate-term neurodevelopmental outcome in infants undergoing open heart procedures using deep hypothermic cardiopulmonary bypass was assessed prospectively. METHODS: One hundred consecutive infants (age 2 to 174 days) were operated on using either deep hypothermic bypass only (group A, n = 28), or with associated circulatory arrest (group B, n = 72). Early neurological outcome was recorded. Survivors underwent mental development evaluation after 31 to 55 months. Fifty other children of similar demographic profile but without heart disease were also tested as controls. RESULTS: In group A, there were two neurological deaths. In group B, 5 patients had clinical seizures, 1 had monoparesis and 1 had hyperkinetic syndrome with decreased attention span. Mean mental performance quotient was 90.0+/-8.2 in group A, and 89.1+/-6.8 in group B, (group A vs. B, p = 0.60). Mean mental performance quotient in the control group was 101.4+/-8.4, which was significantly higher than the patient population (p << 0.001). No correlation was found between duration of circulatory arrest and postoperative mental performance quotient. CONCLUSIONS: There was significant retardation of mental development in infants operated with deep hypothermic cardiopulmonary bypass. However, use of total circulatory arrest and its duration did not affect clinical outcome up to preschool age.

Brain Damage, Chronic↗

Molecular analysis of Friedreich's ataxia locus in the Indian population.

OBJECTIVES: Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in the frataxin gene. We have carried out the first molecular analysis at the Friedreich's ataxia locus in the Indian population. MATERIALS AND METHODS: Three families clinically diagnosed for Friedreich's ataxia were analyzed for GAA expansion at the FRDA locus. The distribution of GAA repeats was also estimated in normal individuals of Indian origin. RESULTS: All patients clinically diagnosed for Friedreich's ataxia were found to be homozygous for GAA repeat expansion. The GAA repeat in the normal population show a bimodal distribution with 94% of alleles ranging from 7-16 repeats. CONCLUSION: Indian patients with expansion at the FRDA locus showed typical clinical features of Friedreich's ataxia. The low frequency of large normal alleles (6%) could indicate that the prevalence of this disease in the Indian population is likely to be low.

Adult↗

Family studies and human leukocyte antigen class II typing in Indian probands with seizures in association with single small enhancing computed tomography lesions.

PURPOSE: To define the clinical features of the syndrome of seizures associated with single, small, enhancing computed tomography (CT) lesions (SSELs) in 235 Indian probands and seizure types among their family members. Human leukocyte antigen (HLA) class II genomic typing in randomly selected 41 probands was done to identify the role of hereditary factors in this syndrome. METHODS: The seizure types among 235 probands, their clinical outcome, and seizures in their family members were studied. Family data were collected on relatives of 212 additional probands with neurologic diseases other than epilepsy. HLA class II antigens were studied by using polymerase chain reaction (PCR) amplified DNA and sequence-specific oligonucleotide probe (PCR-SSOP) hybridization. RESULTS: The seizures in 86% were partial with or without generalization; 77% had fewer than five seizures before the first CT scan. Evanescent focal neurologic deficits after seizures were noted in 40%. Most patients (97%) were treated with a single antiepileptic drug (AED). Significant resolution of the CT scan lesion was noted within 6 months in 125 (53%) of 235 cases. Two thirds of patients had no seizures while taking a single AED, and an additional 18% had no seizures even after their AEDs were discontinued. Epilepsy among relatives of Indian probands having seizures in association with SSELs was more common as compared with relatives of probands with other neurologic diseases. A family history of seizures was noted in 21% probands, the ratio of affected first- to second-degree relatives was 4.3:1, and 60% of affected sibs had syndromic concordance with probands. There was a positive association of HLA-DRB1*13 (Pc = 0.036) with this syndrome. CONCLUSIONS: The syndrome of seizures in association with SSELs seems to be a benign localization-related epileptic syndrome. Our results of HLA studies point to an inherited susceptibility to an infective agent, which in most cases is of cysticercal etiology.

Adult↗

Epilepsy surgery in India: All India Institute of Medical Sciences experience.

OBJECTIVES: Surgical treatment of epilepsy should be considered an important alternative to medical therapy. The identification of a suitable candidate, pre-operative evaluation requires a multidisciplinary team. The specific diagnostic studies required depend on the operative strategy and objective of surgical treatment. METHODS: In twenty patients with medically intractable epilepsy, who had clinical evaluation, electroencephalography (EEG), video-EEG monitoring using scalp electrodes, high resolution magnetic resonance imaging (MRI), neuropsychology, single photon emission computed tomography (SPECT) was done to localise the seizure focus. If the investigations were concordant resective surgery was performed. In case of frequent falls, atonic and tonic seizures, with generalised/multifocal discharges on EEG, a callostomy was done. Surgical outcome was assessed using Engel's 4 point scale. RESULTS: In 18 patients the seizure focus was localised, 13 had temporal lobectomy, five extra-temporal resection, and two had callosotomy. Fifteen patients had a follow-up of more than eight months, mean 20.5 (range 8-35 months), 13 had outcome I (seizure free), two had outcome II (occasional seizures), one-outcome III. Three were lost to follow-up and one patient died. There were no major post-operative complications. CONCLUSIONS: Surgical treatment of epilepsy is a safe, effective mode of therapy. Suitable candidates should be identified early and referred to appropriate centres.

Adolescent↗

Epilepsies among twins born in families of Indian probands with epilepsy.

Twins have a high frequency of adverse perinatal events and have been reported to have an increased risk of seizures. Contrary to popular belief, a recent study reported that twins do not have an increased risk of seizures. We studied the relationship of twinning and epilepsy in India. The frequency of twinning in families of probands with epilepsy was compared with the frequency of twinning among hospital births in the same region of India. We also compared consecutively ascertained probands with epilepsy for their twin status and the occurrence of epilepsies in their twin and non-twin relatives. The frequency of twin births in families of 524 probands with epilepsy was comparable to the twin births among consecutive deliveries over a 3-year period in another government hospital in the same catchment area (1:99 vs. 1:75). Every 1 in 58 of probands with epilepsy was a twin while a twin was born in these families every 1 in 71 live births. The frequency of epilepsy in non-proband twin relatives was 1.5% compared with 2% among non-proband, non-twin relatives. This data suggests that twin birth is not a major risk factor for seizures even in families of Indian probands with epilepsy. Family data such as ours can be used to study the contribution by genetic factors in the pathogenesis of complex genetic diseases such as human epilepsies.

Adult↗

Juvenile myoclonic epilepsy: disease expression among Indian families.

OBJECTIVES: Juvenile myoclonic epilepsy (JME) is a common, age related, idiopathic generalized epileptic syndrome. We aimed to define the expression of JME in Indian probands and study the occurrence of seizures/epileptic syndromes in their family members. METHODS: We studied 225 JME probands with a uniform protocol. recording the type and frequency of seizures, precipitating factors, EEG data, and family history. Detailed family pedigrees were drawn to include all the 1st- and 2nd-degree relatives of probands. The seizures/epileptic syndromes in relatives examined were classified in a uniform way. RESULTS: The clinical and EEG characteristics of 225 JME probands from India were similar to those reported in probands from different ethnic backgrounds. The incidence of febrile convulsions in probands with JME was similar to that of the general population but was much lower (0.2%) among their relatives. A positive family history of seizures among 1st- or 2nd-degree relatives was noted in 79 of 225 (35%) probands. The risk of relatives being affected as well as their risk of expressing a type of idiopathic generalized epilepsy (IGE) varied as a function of the degree of relation with the probands. CONCLUSIONS: The clinical expression of JME among probands from India is fairly similar to that reported in probands of different ethnic backgrounds. The risk of relatives being affected as well as their risk of expressing a type of IGE (including JME) varies as a function of the degree of relation with the probands. The reduced occurrence of febrile convulsions among the relatives of JME probands probably represents an ascertainment bias. A much larger database of this type should be helpful in understanding the interactions of different genes that are believed to be responsible for some of the inherited human epileptic syndromes like JME and other IGEs.

Adolescent↗

Knowledge, attitudes and practice of epilepsy: experience at a comprehensive rural health services project.

Beliefs regarding cause and preference of the treatment modality are important factors influencing any epilepsy programme. Patients own attitudes towards the on-going treatment are equally important in ensuring success of any such programme. The study involved interviews of 80 patients with epilepsy attending a comprehensive rural health services project, and was conducted according to a structured questionnaire. The majority of the patients were well informed regarding the cause of epilepsy, but more than half had tried alternative treatment methods. Many patients had misconceptions regarding the goal of the treatment and the consequences of missing a prescribed drug dose. Surprisingly few patients avoided taking medicines on days of religious fast. It was also noted that most patients depended on free medical supplies from the clinic dispensary, and a small number of patients would stop the medicines if these were not given free of cost. We stress the need to understand patients' concepts about the cause and the treatment of epilepsy, the need to educate them and their families regarding principles of modern medical treatment of epilepsy and most importantly, the need to maintain a regular, uninterrupted supply of free medicines, to improve the effectiveness of similar epilepsy management programmes in the setting of rural India and other developing countries.

Adaptation, Psychological↗

Occurrence of epilepsies in family members of Indian probands with different epileptic syndromes.

PURPOSE: Large numbers of families with many members having seizures have been used to understand the role of hereditary factors in the pathogenesis of human epileptic syndromes. We aimed to establish a genetic database to form a hypothesis on the possible genetic contributions in different epileptic syndromes. METHODS: The occurrence and patterns of different epilepsies and epileptic syndromes in 1,219 Indian probands and their relatives were studied. The concordance of epilepsies between probands and relatives was also analyzed. RESULTS: Of probands, 231 (19% of 1219) had first- or second-degree relatives affected with seizures. Incidence of family history in probands with generalized epilepsies (GES) and syndrome of single, small, enhancing lesions (SSEL) was comparable and significantly higher than that in probands with localization-related epilepsies (LRES). The ratio of affected first- to second-degree relatives was close to 4:1. Generalized epilepsies were the commonest type of epileptic syndromes seen among all relatives. The proportion of sibs and second-degree relatives with epileptic syndromes similar to probands was significantly greater in the GES group as compared with the concordant relatives of probands with LRES and SSEL. CONCLUSIONS: A significant percentage of first- and second-degree relatives of probands with all types of epileptic syndromes have seizures. The risk of relatives being affected varied as a function of the relation with the proband. Concordance of epileptic syndromes between probands and relatives was related to the epileptic syndromes in probands. The syndrome of SSEL is probably a benign epileptic syndrome seen in Indians genetically predisposed to seizures. Hereditary factors may play an almost equal role in the predisposition of relatives to epilepsy in families of probands with different epileptic syndromes.

Brain↗

Occurrence of only myoclonic jerks in juvenile myoclonic epilepsy.

OBJECTIVES: The clinical data on individuals who were diagnosed to have juvenile myoclonic epilepsy (JME) on the basis of myoclonic jerks alone has been analysed. The points in favour and against individuals with only myoclonic jerks being classified as "affected" for research on JME are discussed. MATERIALS AND METHODS: We studied 15 persons diagnosed with JME on the basis of only myoclonic jerks in a series of 161 patients with JME and their relatives. Detailed information on the seizure types in JME patients and their family members was collected. All affected individuals were examined by one person and had at least one conventional scalp EEG. CT/MRI of the brain was done as and when indicated. RESULTS: Nine of these were probands while 6 were the relatives of JME patients. The EEG was abnormal in 8 of 9 probands and 1 of 6 relatives with only myoclonic jerks. All the 9 probands and 2 relatives with only myoclonic jerks were treated with anti-epileptic drugs. Three of the 4 relatives had spontaneous remission of jerks after variable intervals. Four of 15 persons with only myoclonic jerks had a first degree relative with definite JME. CONCLUSIONS: It appears that persons with myoclonic jerks alone may represent a benign subgroup of JME that may be genetically distinct from classic JME and the jerks may even spontaneously remit in a few cases. It is suggested that those persons with only myoclonic jerks and a first degree relationship with a definite diagnosis of JME can be classified as "affected" for inclusion into molecular studies, till molecular tools are available to settle the issue of phenotypic variations in hereditary neurological disorders like JME.

Adolescent↗

Usefulness of short-term video EEG recording with saline induction in pseudoseizures.

OBJECTIVES: To study the usefulness of short-term recording of video electroencephalography (VEEG) as an outpatient procedure with placebo induction (PLIN) and intravenous saline in cases of pseudoseizures (Psz). MATERIAL AND METHODS: Fifty cases of suspected Psz were enrolled. They were divided into 2 groups: Group 1 consisted of patients with frank Psz, Group 2 those where diagnosis was uncertain. VEEG recording was done and 10 ml of saline used for placebo-induction. RESULTS: Of 50 patients, 24 (48%) were in Group 1 and 26 (52%) in Group 2. Fifteen (30%) had a spontaneous event during VEEG and 33% had an event only on PLIN. The diagnosis was confirmed in 60 %. In 24% of patients anti-epileptic drugs were discontinued. CONCLUSION: Short-term monitoring with VEEG using PLIN is a useful initial screening procedure and in patients where it is inconclusive, long term recordings may be done.

Adolescent↗

Cognitive function in younger type II diabetes.

OBJECTIVE: To examine central nervous system involvement as a possible complication of diabetes by performing a comprehensive neuropsychological evaluation of relatively young (age < 55 years) NIDDM patients and a group of control subjects. RESEARCH DESIGN AND METHODS: A cross-sectional comparative study of 28 patients, with duration of diabetes 5-18 years (mean +/- SD +/- 3.2 years), screened for acceptable glycemic control and absence of hypoglycemia on the day of examination, compared with 28 demographically similar, nondiabetic control subjects. Neuropsychometric tests performed were Mini-Mental Status Examination (MMSE), Neurobehavioral Cognitive Status Examination (NCSE), and P300 latencies (endogenous evoked potentials). RESULTS: Seven (25.0%) patients reported history suggestive of cognitive impairment during day-to-day activities, and 17 (60.7%) had distal symmetrical polyneuropathy. Average P300 latencies were significantly delayed among the diabetic patients compared with the control subjects (349.5 +/- 28.2 vs. 312.9 +/- 19.3 ms; t = 5.68, P < 0.001). Although there was no significant difference in MMSE scores, compared with control subjects significantly more patients had impairment in NCSE tests of attention (chi 2 = 7.38, P < 0.01), repetition (chi 2 = 4.073, P < 0.05), and memory (chi 2 = 5.83, P < 0.05), while there was no significant difference in tests of comprehension, naming, construction, and calculation. Duration of diabetes, HbA1c levels, and the presence of distal symmetrical polyneuropathy among patients each did not correlate with any of the parameters of cognitive function evaluated. Higher blood glucose levels during the electrophysiological testing were associated with less delay in P300 latencies among the patients. CONCLUSIONS: Central nervous system impairment, manifesting as mild impairments in certain cognitive skills, should be recognized as a possible complication of long-standing NIDDM, even in relatively younger individuals.

Adult↗