20 research outputs found
Myasthenia Gravis : Clinical Spectrum And Long Term Follow-Up Study
Data from 386 patients, fairly representative of myasthenic population seeking medical advice, were analyzed for clinical spectrum, course and long-term outcome. There were 237 males and 149 females (3:2) with a mean age at onset of 30.6 years. Family history of myasthenia was noted in 5.4% patients. During the first month after the onset symptoms and signs were confined to ocular muscles in 47%, bulbar muscles in 12.5% and involved extremities in 9.4% of patients while 30% individuals had generalized MG. Fifteen patients had chronic limb girdle myasthenia. Of the 181 patients with ocular myasthenia at onset, 53% patients subsequently developed generalized disease and in 44% of these patients it occurred after two years of the onset. Thymectomy was performed in 16% of patients and 70% of the patients were treated with one or more immunosuppressive drugs at sometime. At last follow-up (mean -5.1 yrs), 41 % patients were asymptomatic, 40% reported improvement and 19% deteriorated. Drug free stable remission was achieved in 11% of patients. There was a trend for better outcome in patients undergoing thymectomy than medically treated patients, however the drug free remission rate was same in both the groups. MG was lethal in 11% of patients, principally in women, older than 35 years, and in patients in grade 3 or worse at first observation. Forty-three episodes of myasthenic crisis in 34 patients were analyzed. Infection was the commonest precipitating event. Median interval between the onset of symptoms to crisis was 13 months. Nine episodes of crisis were fatal, with a mortality rate of 21%. A significant reduction in crisis mortality from 40% during 1980-1990 to 10.2% during 1991 to 1999 was noted, reflecting improvement in management strategies
N-acetyl transferase 2 polymorphism and advanced stages of endometriosis in South Indian women.
Aylamine-N-acetyl transferase is a phase II detoxification enzyme encoded by the gene NAT2. Single nucleotide polymorphism (SNP) changes from the wild type NAT2 *4 allele result in allelic variants *5, *6 and *7. Homozygotes for the NAT2 *4 wild type are fast acetylators; heterozygotes with one wild-type allele and a variant NAT2 *5, *6 or *7 allele have reduced enzyme activity and individuals with two variant alleles are slow acetylators. Previous studies have implicated NAT2 as a susceptibility factor in endometriosis. This study investigated the NAT2 allele frequencies and genotype distributions in 252 unrelated women with endometriosis and 264 controls of South Indian origin. No differences were found between the frequencies of fast and slow acetylators in cases (34.9% and 65.1%) and controls (33.3% and 66.7%). Two NAT2 genotypes *7/*7 (1.2%) and *5/*6/*7 (1.6%) were detected in endometriosis cases only. Four new combinations, 6D (481 + 590 mutation), 7C (590 + 857), 7D (590 + 803 + 857) and 7E (481 + 590 + 803 + 857) were detected, which have not been reported earlier. Similar genotype and phenotype results were obtained in 33 affected sister-pairs. The case-control data from this study suggest there is no association between endometriosis and NAT2 in South Indian women; however, two new variant genotypes and seven SNP combinations were also identified in cases only, which suggests that the gene may still have some as yet undetermined role in the disease
Candida northwykensis sp nov., A Novel Yeast Isolated from the Gut of the Click Beetle Melanotus villosus
Two yeast morphotypes, BET 4T and BET 7, were isolated from the gut of click beetle Melanotus villosus. Click beetles were collected from the decaying timber within the woodlands of North Wyke Research, South West England, UK (latitude, 50°46'29"N; longitude, 3°55'23"W). Morphotype BET 7 was identified as Debaryomyces hansenii, and the other morphotype, BET 4T, was found to differs from Priceomyces castillae and Priceomyces haplophilus, its closest phylogenetic neighbours, by 5.0% with respect to the nucleotide sequence of the D1/D2 domain of the large-subunit (LSU) rRNA gene, and by 8.0% with respect to the ribosomal internal-transcribed spacer (ITS) region. BET 4T also differ from P. castillae and P. haplophilus in a number of different phenotypic characteristics. Thus, based on the unique nucleotide sequences of its D1/D2 domain and ITS region, its physiological characteristics and an inability to sporulate, strain BET 4T is assigned the status of a new species of Candida, for which the name Candida northwykensis sp. nov., is proposed. The type strain is BET 4T (NCYC 3525T = CBS 11370T)
[Au]/[Ag]-catalysed expedient synthesis of branched heneicosafuranosyl arabinogalactan motif of Mycobacterium tuberculosis cell wall
Emergence of multidrug-resistant and extreme-drug-resistant strains of Mycobacterium tuberculosis (MTb) can cause serious socioeconomic burdens. Arabinogalactan present on the cellular envelope of MTb is unique and is required for its survival; access to arabinogalactan is essential for understanding the biosynthetic machinery that assembles it. Isolation from Nature is a herculean task and, as a result, chemical synthesis is the most sought after technique. Here we report a convergent synthesis of branched heneicosafuranosyl arabinogalactan (HAG) of MTb. Key furanosylations are performed using [Au]/[Ag] catalysts. The synthesis of HAG is achieved by the repetitive use of three reactions namely 1,2-trans furanoside synthesis by propargyl 1,2-orthoester donors, unmasking of silyl ether, and conversion of n-pentenyl furanosides into 1,2-orthoesters. Synthesis of HAG is achieved in 47 steps (with an overall yield of 0.09%) of which 21 are installation of furanosidic linkages in a stereoselective manner