61 research outputs found
Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India
Background: Arrythmogenic Right Ventricular Cardiomyopathy (ARVC) is a
primary myocardial disorder morphologically characterized by subtle to
severe replacement of the right ventricular myocardium by fatty and
fibrous tissue. ARVC is known to be highly prevalent in European
population with recent reports implicating it to be a major cause of
sudden death in young individuals even from American and Asian
population. Aim: To implicate or exclude TMEM43 (ARVC-5), DSP(ARVC-8)
genes and the yet to be identified gene at ARVC-6 locus in the
pathogenesis in three families affected with ARVC from India.
Materials and Methods: Three families comprising of 42
affected/unaffected members were included in the study. Three
microsatellite markers, D3S3613 (ARVC5) D10S1664 (ARVC6), D6S309
(ARVC8) were genotyped by PCR-based native PAGE. Two-point Linkage
analysis was performed using LINKAGE program version 5.2 . Results and
Discussion: LOD scores from linkage analysis for the microsatellite
marker D10S1664 (ARVC-6) in families KS and REV have shown positive
value hinting the involvement of this locus in the etiology of ARVC,
while linkage analysis in the SB family ruled out involvement of DSP,
TMEM43 and ARVC-6, as negative LOD scores were obtained with all three
loci. Therefore, linkage analysis carried out in the present study
indicates that ARVC-6 (cumulative LOD score is equal to plus 1.203376
at q is equal to 0.05) could be the locus harboring the mutated gene in
two out of three families
Uremic Toxins and their Relation to Dialysis Efficacy
Toxin retention is felt to be a major contributor to the development of uremia in patients with advanced chronic kidney disease and end-stage renal disease (ESRD). Uremic retention compounds are classically divided into 3 categories: small solutes, middle molecules, and protein-bound toxins. Compounds comprising the first category, for which the upper molecular weight limit is generally considered to be 500 Da, possess a high degree of water solubility and minimal or absent protein binding. The second category of middle molecules has largely evolved now to be synonymous with peptides and proteins that accumulate in uremia. Although not precisely defined, low-molecular weight proteins as a class have a molecular weight spectrum ranging from approximately 500 to 60,000 daltons. The final category of uremic retention compounds is protein-bound uremic toxins (PBUTs). As opposed to the above small, highly water-soluble toxins, which are largely by-products of protein metabolism, PBUTs have diverse origins and possess chemical characteristics that preclude the possibility of circulation in an unbound form despite being of low molecular weight. This review is the first in a series of papers designed to provide the current state of the art for extracorporeal treatment of ESRD. Subsequent papers in this series will address membranes, mass transfer mechanisms, and future directions. For small solutes and middle molecules, particular emphasis is placed on the important clinical trials that comprise the evidence base regarding the influence of dialytic solute removal on outcome. Because such trials do not exist for PBUTs, the discussion here is instead focused on solute characteristics and renal elimination mechanisms
Growth Rate of the Pearl Oyster, Pinctada Pinctada, in the Gulf of Kutch with a Note on the Pearl Fishery of 1953
Volume: 52Start Page: 124End Page: 13
Epidemiology and genetics of dilated cardiomyopathy in the Indian context
Background: Dilated cardiomyopathy (DCM) still remains to be a poorly
understood and less analyzed group of cardiac-muscle disorders when
compared to hypertrophic cardiomyopathy (HCM). Also, the vast clinical
heterogeneity among the patients has rendered the small and isolated
kindred studies less informative on the genetics and epidemiology of
DCM. Aim of the study: The study aimed at understanding the
epidemiology and genetics of DCMs in the Indian context. Materials and
methods/ Statistical analysis: One hundred seven DCM patients and 105
healthy individuals were included in the study for epidemiological and
genetic risk factor identification and to fit the possible mode of
inheritance. Single′s ascertainment methodology for segregation
analysis and Penrose frequency estimates were followed to evaluate for
the role of specific epidemiological factors in the disease etiology.
Chi-square analysis was carried out to interpret the results
statistically. Results and Conclusion: Our study suggests that
epidemiological factors like gender, age at onset and vegetarian diet
in conjunction with sarcomere gene mutations may play a role in the
disease expression. Similarly, segregation analysis for the possible
mode of inheritance showed a deviation from the autosomal dominant mode
of inheritance, strengthening the underlying genetic heterogeneity of
DCM
Developing an objective function to characterize the tradeoffs in salting out and the foam and droplet fractionation processes
There are many methods for separating and purifying proteins from dilute solutions, such as salting out/precipitation, adsorption/chromatography, foam fractionation, and droplet fractionation. In order to determine the optimal condition for a selected separation and purification process, an objective function is developed. The objective function consists of three parameters, which are the protein mass recovery, the separation ratio, and the enzymatic activity ratio. In this paper the objective function is determined as a function of the pH of the bulk solution for egg albumin, cellulase, and sporamin (for foam fractionation) and invertase ( for droplet fractionation). It is found that the optimal pH for all the systems except for cellulase is near their isoelectric point
Finite‐Sized One‐Dimensional Silica Microstructures (Rods): Synthesis, Assembly, and Applications
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