PubMed Health⌕ Search

Biomedical subjects

P U Shah

Publications and source records attributed to P U Shah.

At least 19 recordsLinked to original sources
PubMed2001

T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients.

Childhood absence epilepsy (CAE) is one of the most common epilepsies in children. At least four phenotypic subcategories of CAE have been proposed. Among them, a subtype persisting with tonic-clonic seizures has been mapped to 8q24 (ECA1 MIM 600131). By constructing a physical map for the 8q24 region, we recently narrowed the ECA1 locus to a 1.5-Mb region. In the present communication, we show that T-STAR gene is located within the ECA1 region. T-STAR is a novel member of STAR (for signal transduction and activation of RNA) family, and is predicted to encode a spermatogenesis related RNA-binding protein. T-STAR is located within the markers D8S2049 and D8S1753 and its complete coding region spans nine exons. In addition to its known expression in testis, moderate level of transcripts for T-STAR gene was detected in brain, heart and is highly abundant in skeletal muscle. Mutational analysis for the T-SATR gene in CAE families did not show any sequence variation in the coding region, and this suggests that the T-STAR gene is not involved in the pathogenesis of persisting CAE. However, genomic organization of T-STAR gene characterized in the present report might help in understanding the biological functions of T-STAR as well as its suspected involvement in other disorders mapped on this region.

Base Sequence↗
PubMed2001

A pharmacoeconomic analysis of the impact of therapeutic drug monitoring in adult patients with generalized tonic-clonic epilepsy.

AIMS: To carry out a retrospective pharmacoeconomic analysis of the impact of therapeutic drug monitoring (TDM) in adult patients with generalized tonic-clonic epilepsy in an academic, non profit making organization. METHODS: Twenty-five patients who had undergone TDM were compared with 25 age, disease and duration of drug therapy matched controls who had not undergone TDM. Only direct costs were calculated. These included cost to the hospital of providing the TDM service, cost to the hospital per seizure saved, and cost to the patient per seizure saved. RESULTS: Patients undergoing TDM had much more effective seizure control (P = 0.00032, OR 4.846, 95% confidence interval 1.29,18.3), fewer adverse events, better earning and were more likely to be married than the control group. CONCLUSIONS: In patients with adult onset epilepsy, a minimum of two drug estimations per year offers significant benefit in terms of better seizure control, fewer adverse events and greater chances of remission.

Adolescent↗
PubMed2000

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

Childhood absence epilepsy (CAE), one of the common idiopathic generalized epilepsies, accounts for 8 to 15% of all childhood epilepsies. Inherited as an autosomal dominant trait, frequent absence attacks start in early or midchildhood and disappear by 30 years of age or may persist through life. Recently, we mapped the locus for CAE persisting with tonic-clonic seizures to chromosome 8q24 (ECA1) by genetic linkage analysis. As a further step in the identification of the ECA1 gene, we constructed a bacterial artificial chromosome- and yeast artificial chromosome-based physical map for the 8q24 region, spanning about 3 Mb between D8S1710 and D8S523. Accurately ordered STS markers within the physical map aided in the analysis of haplotypes and recombinations and reduced the ECA1 region to 1.5 Mb flanked by D8S554 and D8S502. Pairwise analysis in six families confirmed linkage with a pooled lod score of 4.10 (θ = 0) at D8S534. The sequence-ready physical map as well as the narrowed candidate region described here should contribute to the identification of the ECA1 gene.

Base Sequence↗
PubMed1999

Guillain-Barre syndrome following malaria.

Two adult males were admitted with acute are flexic quadriplegia and bifacial and bulbar weakness 2 weeks after an acute episode of malaria, one due to Plasmodium falciparum infection (patient 1) and the other due to Plasmodium vivax (patient 2). Cerebrospinal fluid analysis and nerve conduction studies confirmed the diagnosis of Guillain-Barre syndrome (GBS). Patient 1 progressed to develop respiratory paralysis and required mechanical ventilation. He received intravenous immunoglobulins for the GBS and made a complete recovery in 6 weeks. A review of 11 cases of GBS (nine previously reported and the present two) revealed that eight patients had preceding falciparum malaria and three had vivax infection. All but two patients had distal symmetric sensory deficits. Paralysis was mild in seven cases (three due to P. vivax and four due to P. falciparum) and recovered completely in 2-6 weeks without any specific treatment. Four patients with falciparum malaria developed severe paralysis with respiratory failure, and three patients died. One patient who received intravenous immunoglobulins recovered completely (patient 1 in this report).

Adult↗
PubMed1999

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

Childhood absence epilepsy (CAE), one of the most common epilepsies in children, is genetically and phenotypically heterogeneous. One of the genes responsible for human CAE associated with tonic-clonic seizures has been mapped to chromosome band 8q24 by genetic linkage analysis and is termed ECA1. Recently, we isolated and mapped the JRK/JH8 gene, a human homologue of the mouse epilepsy gene, jerky, on 8q24. The epilepsy phenotype of the mice with inactivated jerky gene as well as its chromosomal localization proposed JRK/JH8 as a prominent candidate for the CAE gene. To confirm whether the JRK/JH8 gene is responsible for ECA1, we performed mutational analyses in the coding region of JRK/JH8 in two CAE families mapped on 8q24, using heteroduplex and direct sequencing methods. We identified seven nucleotide changes, two of which lead to amino acid substitutions. However, these changes did not co-segregate with the disease phenotype. In addition, we redefined the location of JRK/JH8 to be more than 4 Mb distant from D8S502 and ECA1. Thus, negative results of mutation analyses and detailed physical mapping exclude JRK/JH8 as the ECA1 gene.

Animals↗
PubMed1999

Multiple sclerosis: experience in neuroimaging era from western India.

31 patients of multiple sclerosis (MS) diagnosed in the last six years in a large teaching hospital were reviewed. The hospital incidence of 0.85% of total admissions in neurology unit in western India is comparable to the series from other parts of India. The mean age at onset was slightly lower compared to other series. The female preponderence was noted in addition to higher incidence of Devic's syndrome. Visual loss (47%) and motor weakness (27%) were the commonest presenting symptoms. The clinical pattern was more similar to Asian series of MS than the western series. All patients underwent magnetic resonance imaging (MRI) scan. 24 out of 25 MRI of Brain and 15 out of 16 MRI of spine were abnormal. CSF immuno-globulins were raised in 80% of patients who underwent CSF study. The data has been compared with other Indian, Asian and Western series.

Adolescent↗
PubMed1998

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

Childhood absence epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 5%-15% of childhood epilepsies. To map the chromosomal locus of persisting CAE, we studied the clinical and electroencephalographic traits of 78 members of a five-generation family from Bombay, India. The model-free affected-pedigree member method was used during initial screening with chromosome 6p, 8q, and 1p microsatellites, and only individuals with absence seizures and/or electroencephalogram 3-4-Hz spike- and multispike-slow wave complexes were considered to be affected. Significant P values of .00000-.02 for several markers on 8q were obtained. Two-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yielded a maximum LOD score (Zmax) of 3.6 for D8S502. No other locus in the genome achieved a significant Zmax. For five smaller multiplex families, summed Zmax was 2.4 for D8S537 and 1.7 for D8S1761. Haplotypes composed of the same 8q24 microsatellites segregated with affected members of the large family from India and with all five smaller families. Recombinations positioned the CAE gene in a 3.2-cM interval.

California↗
PubMed1993

Compliance monitoring in epileptic patients.

Poor patient compliance is one of the major causes of non responsiveness to antiepileptic drug therapy. Compliance is mostly assessed by self reporting, pill counting and plasma drug level estimation. However, none of them is fool proof. Subtherapeutic plasma drug levels can be due to poor compliance or need for higher dosage. Therefore, in the present study, 20 adult non responsive epileptic patients showing subtherapeutic plasma phenytoin levels inspite of receiving standard phenytoin therapy and history of good compliance were admitted in the clinical pharmacology ward and received supervised drug treatment for five days after which plasma phenytoin levels in 14 patients increased to therapeutic range. All except one (i.e. 9 out of 10) patients showing phenytoin levels < 5 ug/ml inspite of phenytoin dosage of > 300 mg/d and history of good compliance were found to be noncompliant. Hence adult patient receiving greater than or equal to 300 mg/day phenytion and showing phenytoin levels less than or equal to 5 ug/ml should be investigated for possible noncompliance before altering their dosage schedules.

Adolescent↗
PubMed1992

Analysis of a clinically important interaction between phenytoin and Shankhapushpi, an Ayurvedic preparation.

During the course of routine plasma drug level monitoring an unexpected loss of seizure control and reduction in plasma phenytoin levels was noticed in two patients who were also taking 'Shankhapushpi' (SRC), an Ayurvedic preparation. Therefore, the present study was undertaken in rats to investigate any SRC-phenytoin interaction from both pharmacokinetic (serum levels) and pharmacodynamic (electroshock seizure prevention) aspects. Single dose SRC and phenytoin (oral/i.p.) coadministration did not have any effect on plasma phenytoin levels but decreased the antiepileptic activity of phenytoin significantly. On multiple-dose coadministration, SRC reduced not only the antiepileptic activity of phenytoin but also lowered plasma phenytoin levels. SRC itself showed significant antiepileptic activity compared to placebo and is worth further investigation. However, the clinical combination of SRC with phenytoin is not advised.

Administration, Oral↗