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Biomedical subjects

A Chakravarty

Publications and source records attributed to A Chakravarty.

At least 19 recordsLinked to original sources

Observations on juvenile myoclonic epilepsy amongst ethnic Bengalees in West Bengal--an Eastern Indian State.

BACKGROUND: Juvenile myoclonic epilepsy (JME) is not too uncommonly encountered in Indian neurological practice. A number of reports from different parts of India have documented the clinical phenomenology and EEG characteristics of this genetically determined epileptic syndrome. However, no study has yet been reported from the Eastern part of India and none done so far in patients in a specific ethnic group. Furthermore therapy response and follow up data are not available in detail in the Indian studies. OBJECTIVE: To study disease expression, EEG characteristics and therapy response of JME patients in ethnic Bengalees in West Bengal, an Eastern Indian State, in a clinic based study. MATERIAL AND METHODS: 200 patients with JME attending the Neurology Department of the Institute have been followed up for 5 years and different parameters of disease expression as outlined above have been studied. RESULTS: Overall clinical disease expression has been found to be similar in this clinic based study in ethnic Bengalees as compared to other reports from India and elsewhere. About 16% of patients showed a relative resistance to Valproate therapy. Hundred percent of patients in whom therapy withdrawal was attempted, relapsed within<1-2 years. Amongst female patients (132), 16 developed features of polycystic ovarian syndrome while on Valproate therapy. In over half of them, the symptoms regressed after successful switch over from Valproate to Clobazam. 12/132 female patients became pregnant during follow up and while on Valproate; teratogenic effect was evident in only one such patient. CONCLUSIONS: Phenotypic variations in disease expression including therapy response have been noted within a single ethnic group of patients attending the clinic and might account for genetic heterogeneity noted in molecular genetic studies. JME cannot really be called a very 'benign' epileptic syndrome; recurrence after therapy withdrawal almost invariably occurs.

Abnormalities, Drug-Induced↗

Primary headaches associated with sexual activity--some observations in Indian patients.

Primary headache associated with sexual activity appears to be relatively uncommon in a clinic-based study in Indian patients. Only 24 patients (M:F 18:6) were encountered over a 20-year period (1985-2004). Of the 18 male patients, 14 (age 33-42 years) had preorgasmic headache of tension-headache type for 2-8 months, one patient (age 58 years) had orgasmic headache of vascular type for 1 month and three subjects (age 19-23 years) had masturbatory headache also simulating tension-type headache for 3-7 weeks. These observations are at variance with those generally reported from western countries. Of the six female patients, four (age 26-32 years) had typical orgasmic headache of the vascular type (for a few months to a few years), only one of whom had been a migraine sufferer. One patient (age 35 years) presented with a single episode of thunderclap headache where angiography had been negative. Another female subject (age 30 years) experienced typical orgasmic headache only during masturbation but not during actual sexual intercourse. Occurrence of sexual headaches in both male and female subjects had been unpredictable. Few had associated migraine and none ever experienced exertional headache.

Adolescent↗

Chronic daily headache in children and adolescents: a clinic based study from India.

Chronic Daily Headache (CDH) is uncommon in Indian children compared to their adult counterpart. This is a retrospective study looking at the headache phenomenology of CDH in Indian children and adolescents. The validity of the case definitions of subtypes of chronic primary headaches mentioned in the IHS 2004 classification have been evaluated. 22 children (age range 8-15 years; M : F-16 : 6) diagnosed as having primary CDH using a modified definition seen between 2002 and 2003 have been studied. CDH has been defined as daily or near daily headaches > 15d/month for > 6 weeks. The rationale for this modified definition has been discussed. Majority of children (15/22) had a more or loss specified time of onset of regular headache spells resembling New Daily Persistent Headache (NDPH) but did not fulfil totally the diagnostic criteria of NDPH as laid down by IHS 2004. In all cases headache phenomenology included a significant vascular component. Headache phenomenology closely resembled Chronic Tension Type Headache (CTTH) in 4 patients and Chronic Migraine in 3 patients. However, in no patient in these groups, a history of evolution from the episodic forms of the diseases could be elicited. Heightened level of anxiety mostly related to academic stress and achievement was noted in the majority (19/22). Only a minority of patients (3/22) had anxiety and depression related to interpersonal relationships in the family. Medication overuse was not implicated in any patient. CDH in children in India is very much different from CDH in adults with the vast majority of patients exhibiting overlapping features of migraine and tension-type headache. There is need for a modified diagnostic criteria and terminology for chronic primary headaches in children.

Adolescent↗

Trigeminal autonomic cephalgias and variants: clinical profile in Indian patients.

The present study summarizes the authors' experience of the clinical profile of short-lasting trigeminal autonomic cephalgias (TAC) in Indian patients. Over a period of 17 years a total of 41 cases of episodic cluster headache, seven cases of chronic cluster headache, six cases of variant cluster headache, three cases of paroxysomal hemicrania, and a single case of SUNCT syndrome were encountered. TACs appear to be rare in Indian patients and cluster headache seems to be exclusively a disease of men. The present report is to the best of our knowledge the first of its kind to be reported from India.

Adult↗

Why women do not get micturition syncope?--a hypothesis.

In the present communication, the author hypothesises on the rarity of Indian women to suffer from micturition syncope while this is fairly common amongst men of all ages. Most Indian women adopt a squatting posture during micturition in contrast to men who prefer to stand. Squatting induced increased adrenergic drive and the resultant rise of blood pressure seems to negate the parasympathetic overactivity that results from bladder evacuation causing micturition syncope. Significant venous pooling in legs is also prevented by adopting a squatting posture and using a commode seat.

Adult↗

MR evaluation of crossed and uncrossed cerebral-cerebellar diaschisis.

In three patients with infantile hemiplegia syndrome, MR imaging done later in life showed significant volume loss in the cerebellar hemisphere contralateral to the side of the affected cerebrum in two and ipsilateral in one. By comparison, the cerebellar volume loss seemed to correlate with the degree of volume loss in the contralateral cerebral hemispheres in two patients. These observations provide morphological evidence of the phenomenon of crossed and uncrossed/ipsilateral cerebral cerebellar diaschisis (CCD and ICD). Functional neuroimaging studies in support of the concept of CCD and ICD have been critically reviewed in the light of the morphological changes demonstrated in the cases cited herein.

Adolescent↗

Chronic daily headaches: clinical profile in Indian patients.

Chronic daily headache (CDH) remains a relatively unexplored entity in India. Misconceptions are common, unnecessary investigations often done and inappropriate therapy prescribed. Analgesic overuse is seldom recognized. The present report appears to be the first of its kind from India. CDH has been defined as headaches occurring more than 15 days per month for more than 3 months (secondary causes excluded). Over 2 years (1998-1999) 849 cases (49.6% of all primary headaches) were seen. More than 1 year's follow-up data were available in 205 subjects (M 34; F 171). The distribution of these was as follows: (i), chronic tension-type headache (CTH), 33 (16.1%); (ii), chronic/transformed migraine (TM), 169 (82.4%); (iii), new persistent CDH, 3 (1.5%). There were 169 cases of TM (M : F 1 : 4.7; age 26-58 years). History of past episodic migraine was present in all. Transformation had been gradual (89.4%) or acute (10.6%). Possible factors in transformation included psychological stress (44.4%), analgesic overuse (28.4%), ergot overuse (4.1%). HRT seemed to be implicated in three female subjects. Analgesic overuse was limited between intake of 600 and 2400 mg of aspirin equivalent per day (mean 735 mg). Ergot overuse varied between 1 and 3 mg/day of ergotamine for > or = 3 days/week. With medical therapy approximately 70% TM and 40% CTH patients noted significant improvement. About 80% of these relapsed on therapy withdrawal. CDH in India is not uncommon. Analgesic/ergot overuse needs to be recognized early. The average dose of analgesic implicated in CDH seems much less compared with that reported in the West.

Adult↗

Friedreich's ataxia--yesterday, today and tomorrow.

The present review traces the origin of Friedreich's Ataxia (FA) from the time of Nikolaus Friedreich in the mid-nineteenth century. The early hesitation on the part of the neurological community in accepting FA as a distinct entity, rather than a variant form of tabes dorsalis and multiple sclerosis, has been highlighted. Research within the last 6-7 years, has firmly established FA as a trinucleotide repeat disorder, the location of the offending gene, and the disease-related gene product, frataxin. Frataxin is now thought to interfere with the mitochondrial oxidative process and enhance iron accumulation. However, whether this iron accumulation is a primary causative event for symptom production is not clear and iron chelators are unlikely to be helpful in therapy. Of great promise is the use of free radical scavengers and antioxidants. One such agent idebenone, a short chain analogue of co-enzyme Q10, may have a future.

Friedreich Ataxia↗

Primary degenerative cerebellar ataxias in ethnic Bengalees in West Bengal: some observations.

Seventy cases of primary degenerative cerebellar ataxias in ethnic Bengalees from southern West Bengal, India, were studied by the authors. Of these, 50 cases were of the familial type (hereditary ataxias) encountered in 23 families and the remaining 20 were of sporadic onset. 18 cases (from 11 families) were of "probable" autosomal recessive (AR) inheritance, 12 cases (8 families) had Friedreich's type ataxia (FA), 4 cases (2 families) had FA type ataxia with retained reflexes and in 2 cases (1 family) the exact phenotypic characterization could not be made. AR inheritance in these cases seemed most likely in view of the occurrence in a single generation with unaffected parents and history of consanguinity in many of the families studied. Genotypic confirmation of FA type ataxia and its variants could not be done in any case due to the non-availability of technology for studying the FA locus but some common dominant ataxia genotypes could be excluded. Thirty-two cases (from 12 families) with autosomal dominant ataxias (ADCA) were studied. Genotype analysis revealed 4 families with SCA2 genotype, 5 families with SCA3 and 3 families where genotypic characterization could not be made (phenotypically 2 were of ADCA I and 1 of ADCA II). No clear preponderance of one particular genotype of SCA over another could be demonstrated in our ethnic Bengalee patients. We also noted significant intra and inter-family variations in phenotypes within the same genotypic form as well as overlapping of clinical signs between different genotypes. Slow saccades and peripheral neuropathy were not seen consistently in our ethnic Bengalee subjects with SCA2 genotype. Similarly, extrapyramidal features, ophthalmoplegias and distal amyotrophy were seen in some but not all families with the SCA3 genotype. Phenotypic expression appeared to be an inconsistent marker of the SCA genotype in our patients. Of the 20 sporadic cases with cerebellar ataxia, genotype analysis revealed 2 cases with SCA1 and 1 with SCA2. Some of the sporadic ataxia cases had extracerebellar involvement and may warrant classification as Multiple System Atrophy. In all the 3 subjects with genotype characterization, phenotype correlation was lacking. The clinical pattern of hereditary ataxias in ethnic Bengalees seems to be somewhat different from that seen in Western India. The need for clinical and genetic studies of ataxias in different specific ethnic populations of India has been stressed.

Adolescent↗

X-linked Charcot-Marie-Tooth disease with myokymia: report of a family.

The clinical and electrophysiologic profiles of two brothers suffering from Charcot-Marie-Tooth disease are presented. Both had widespread muscle twitching in the legs which showed electrophysiologic features of myokymia. Pedigree analysis suggested an x-linked recessive form of inheritance. This appears to be the first report of an Indian family with x-linked Charcot-Marie-Tooth disease.

Adolescent↗

Vertigo and dizziness--a clinical approach.

Dizziness is a term which is used to describe a variety of sensations. It is possible to group these complaints into four types: a rotational sensation (Type I dizziness), impending faint (Type II dizziness), dysequilibrium (Type III dizziness) and vague lightheadness (Type IV dizziness). Type I dizziness or vertigo is due to disease of the vestibular system--peripheral or central, and is characterized by a feeling of movement relative to one's surrounding. The majority of dizzy patients, however, belong to Types II, III and IV, collectively called the non-vestibular system disorders. The distinction is usually possible by a detailed history and clinical examination, but some special bedside tests--the dizziness simulation battery--are often required for properly distinguishing the various types of dizziness. Important causes of vertigo and the non-vestibular system disorders have been discussed with focus on benign positional vertigo, acute peripheral vestibulopathy, Menieres' disease, toxic damage to labyrinths, perilymph fistula, cerebrovascular disease, multiple sclerosis, cerebellopontine angle tumors, basilar migraine, vestibular epilepsy, cervical vertigo and phobic postural vertigo.

Diagnosis, Differential↗

Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state.

BACKGROUND: Phenotypic and genotypic patterns of a hereditary disease in a large multiethnic country like India need to be studied in relation to geographical location and ethnicity of the population. The few reported studies from India on dominant ataxias (ADCA) have mostly been conducted on multiethnic populations and hence may not reflect the patterns observed in specific ethnic groups or geographical locations. The present study attempted to look into the patterns of ADCA amongst ethnic Bengalee patients hailing from the eastern Indian state of West Bengal. MATERIAL AND METHODS: Between mid-1996 and mid-2000, in a clinic based study, 37 cases (from 14 families) with ADCA were studied. This included 33 affected and four asymptomatic members with abnormal physical signs. Genotypic analyses were performed on more than one affected member from each family. Clinical, neuroradiological and electrophysiological aspects were studied. OBSERVATIONS: Genotype analysis revealed: two families with SCA-1,4 families with SCA2,5 families with SCA3 and three families with undetermined genotype. Of the latter, phenotypically 2 were of ADCA 1 and one of ADCA 2 type. No clear preponderance of one particular genotype over another was observed. We noted significant intra- and interfamily variations in phenotype within the same genotype form as well as overlapping of clinical signs between different genotypes. Slow saccadic eye movements and peripheral neuropathy were not seen consistently in our ethnic Bengalee subjects with SCA2 genotypes. Similarly, extrapyramidal features, ophthalmoplegias and distal amyotrophy were seen in some but not in all families with SCA3 mutation. A peculiar form of abduction lag during slow pursuit movement of eyes was observed in an asymptomatic girl in an SCA3 family. CONCLUSIONS: Although SCA2 has been claimed to be the commonest form of ADCA in India, this does not appear to be so in our ethnic Bengalee subjects. Phenotypic expression of the genotype also appears to be variable amongst families and individuals. Hence, phenotypic expression appears to be an inconsistent marker of the SCA genotype in our patients.

Adolescent↗