ABSTRACT
Background : The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to several diseases. Studies on association between VDR polymorphisms and risk of type 2 diabetes (T2DM) in different ethnic populations are yet inconclusive. Aims : This study was conducted to evaluate association between VDR polymorphisms and genetic susceptibility to T2DM in the north Indian population. Settings and Design : One hundred clinically diagnosed T2DM patients and 160 healthy controls from the north Indian population were recruited for genetic association study. Materials and Methods : Genomic DNA was extracted from blood and genotyped for the single nucleotide polymorphism SNPs of FokI (T/C) [rs2228570], BsmI (A/G) [rs1544410] and TaqI (C/T) [rs731236] by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. Statistical Analysis Used : Genotype distribution and allelic frequencies were compared between patients and controls. Mean values and odds ratios (ORs) with 95% confidence interval (CI) were calculated using SPSS software (version 15.0). Results : The genotype distribution, allele and haplotype frequencies of VDR polymorphism did not differ significantly between patients and controls. Mean age and waist-hip ratio of patients were found to be associated with VDR polymorphism. Combination studies showed FFBbtt increased the risk of T2DM in north Indians. Conclusions : Our data suggest that VDR gene polymorphism in combination of genotypes is associated with the risk of T2DM and thus requires further studies as a probable genetic risk marker for T2DM.
Subject(s)
Diabetes Mellitus, Type 2/genetics , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , India , Middle Aged , Polymerase Chain Reaction , Polymorphism, Single Nucleotide , Receptors, Calcitriol/geneticsABSTRACT
Rare molds are increasingly emerging as a cause of deep and invasive fungal infections. We report here a rare case of cutaneous phaeohyphomycosis of the lower limbs due to Alternaria alternata associated with extra-ungual localization of Scopulariopsis brevicaulis. Diagnosis was made based on repeated, direct, microscopic mycological and histological examinations. The study revealed hyphae and fungal cells in a granulomatous dermal infiltrate. Identification of the molds was based on macroscopic appearance on culture of samples from the lesions on Sabouraud's dextrose agar and microscopic appearance on Lactophenol cotton blue following slide culture.
Subject(s)
Adult , Alternaria/cytology , Dermatomycoses/diagnosis , Fatal Outcome , Female , Humans , Immunocompetence , Leg Dermatoses/diagnosis , Mitosporic Fungi/cytology , Skin/microbiologyABSTRACT
BACKGROUND: Esophageal manometry is considered the gold standard in the diagnosis of esophageal motility disorders. Cine-esophagogram using barium is also a good investigation to screen patients for motor disorders of the esophagus. Comparison between these two investigations has not often been reported in patients with progressive systemic sclerosis (PSS). AIM: To determine relative merits of cine-esophagogram and esophageal manometry in detecting esophageal motor dysfunction in PSS patients. METHODS: Thirty-five patients with PSS irrespective of esophageal symptoms underwent esophageal manometry and cine-esophagogram, results and their were compared. RESULTS: Sensitivity and specificity of cine-esophagogram as compared to manometry were 96.1% (95% CI 88.7%-100%) and 55.5% (95% CI 23%-87.9%) respectively. Its positive predictive value was 86%. CONCLUSION: While esophageal manometry can identify esophageal motor disorder in PSS, cine-esophagogram can be resorted to in doubtful situations, for confirmation of diagnosis.
Subject(s)
Adolescent , Adult , Cineradiography , Esophageal Motility Disorders/diagnosis , Female , Humans , Male , Manometry/methods , Middle Aged , Peristalsis , Scleroderma, Systemic/complications , Sensitivity and SpecificityABSTRACT
The effect of single oral dose of 1 gm gugulipid was studied on bioavailability of single oral dose of propranolol (40 mg) and diltiazem (60 mg) in 10 and 7 normal healthy male volunteers respectively. It was a randomised within group crossover study. Blood samples were collected at hourly intervals upto 8 hrs. Gugulipid significantly reduced (P < .01) peak plasma concentration (Cmax) and area under curve (AUC 0-8 hrs) of both the drugs in normal volunteers. Such interaction in patients receiving propanolol or diltiazem with gugulipid may lead to diminished efficacy or nonresponsiveness due to significant reduction in bioavailability.
Subject(s)
Administration, Oral , Adult , Hypolipidemic Agents/pharmacology , Biological Availability , Commiphora , Cross-Over Studies , Diltiazem/pharmacokinetics , Humans , Male , Plant Extracts/pharmacology , Plant Gums , Propranolol/pharmacokineticsABSTRACT
Septo optic dysplasia is a rare developmental anomaly involving bilateral optic nerve hypoplasia, midline anomalies of the brain and hypothalamo-pituitary dysfunction. A case of septo-optic dysplasia with pituitary dwarfism, optic nerve hypoplasia and absent septum pellucidum is reported.
Subject(s)
Child , Dwarfism/complications , Female , Growth Hormone/deficiency , Humans , Hypothalamo-Hypophyseal System/abnormalities , Optic Nerve/abnormalities , Septum Pellucidum/abnormalities , Tomography, X-Ray ComputedABSTRACT
Pathological conditions are known to affect pharmacokinetics of many drugs. Antipyrine half-life is used as a marker of liver microsomal enzyme function. Antipyrine pharmacokinetics, therefore, was investigated in 23 thyrotoxic and 11 euthyroid goitre patients. Of these, 11 thyrotoxic and 9 euthyroid goitre patients also participated in doxycycline bioavailability studies. In thyrotoxic patients, antipyrine half-life and AUCo infinity and doxycycline Cpmax and AUCo infinity were found to be reduced as compared to those of healthy euthyroid normal subjects. Following treatment of thyrotoxicosis, the antipyrine half-life and AUCo infinity returned to normal. Doxycycline AUCo infinity returned to near normal range but Cpmax did not.
Subject(s)
Administration, Oral , Adult , Antipyrine/pharmacokinetics , Biological Availability , Doxycycline/pharmacokinetics , Female , Goiter/metabolism , Half-Life , Humans , Male , Middle Aged , Thyrotoxicosis/metabolismABSTRACT
A prospective study was undertaken to determine prognostic markers for patients with obstructive jaundice. Along with routine liver function tests, antipyrine clearance was determined in 20 patients. Four patients died after basal investigations. Five patients underwent definitive surgery. The remaining 11 patients were subjected to percutaneous transhepatic biliary decompression. Four patients died during the drainage period, while surgery was carried out for seven patients within 1-3 weeks of drainage. Of 20 patients, only six patients survived. Basal liver function tests were comparable in survivors and nonsurvivors. Discriminant analysis of the basal data revealed that plasma bilirubin, proteins and antipyrine half-life taken together had a strong association with mortality. A mathematical equation was derived using these variables and a score was computed for each patient. It was observed that a score value greater than or equal to 0.84 indicated survival. Omission of antipyrine half-life from the data, however, resulted in prediction of false security in 55% of patients. This study highlights the importance of addition of antipyrine elimination test to the routine liver function tests for precise identification of high risk patients.