89 research outputs found
Establishing novel relationships between genetic variants and gene expression in humans
We observe phenotypic variations in the human population every day; however, the underlying genetic mechanism behind these variations is difficult to decipher. In this project I investigate the links between phenotypic and genetic variations in humans via three different studies. First, I focus on the impact of the loss-of-function (LoF) mutations on the gene expression. To study the impact of LoF mutations on gene expression, messenger RNA (mRNA) sequences were aligned generating a map of similarities and differences in the RNA seq around the LoF mutation being analyzed. The patterns of RNA seq alignment were studied using the Integrative Genomics Viewer and compared with the list of LoF mutations. The results from the study of LoF mutations confirmed the presence of mutations which impact the gene expression for a particular disease and also reinstated the RNA-seq data obtained. Therefore, the genetic variants present did not necessarily cause the disease in all cases and the gene was not expressed when LoF mutations were present. This RNA editing mechanism protects individuals from the expression of the LoF mutations. Second, I focus on the expression level of mitochondrial DNA (mtDNA)-encoded genes. FPKM (fragments per kilobase of exon per million fragments) was used in the study of mtDNA-encoded genes to measure the relative abundance of transcripts in the RNA seq data. The study of mtDNA-encoded genes showed the presence of individual variations in the expression levels of the mtDNA and nuclear DNA encoded genes. I also found that the expression of nuclear genes is correlated to the expression of mtDNA-encoded genes
Multiple Enteric Duplication Cysts in a Twin Fetus : Diagnosis and management
Enteric duplication cysts are rare congenital anomalies of the gastrointestinal tract. These can be suspected if cystic lesions are noted in the fetal abdomen during an antenatal ultrasonogram. The differential diagnoses of fetal intra-abdominal cystic lesions include fetal omental cysts, fetal mesenteric cysts, meconium pseudocysts and fetal ovarian cysts. We report an antenatally diagnosed enteric duplication cyst in one of a set of twin fetuses which was managed successfully.
Employee Monitoring using Image Processing
Now-a-days demand of Employee Monitoring System is increasing with a rapid speed. Along with check-in and check-out details, it is also essential to calculate the total working hours of employees. Existing systems are only focused towards check-in and check-out. Our proposed system will be the potential solution for this problem, after sign in to the web portal the media device will implicitly monitor the employee. Moreover the proposed system will also detect the drowsiness based on eyes blink rate. Face and eyeball detection will be implemented using Haar cascade and Contour detection algorithms respectively. Finally the monitored data will be uploaded on real time cloud for the access and necessary actions by remotely located HR against the employees. This will be definitely helpful in increasing the productivity of the organization
Bioprocessing of Crop Residues using Fibrolytic Enzymes and Flavobacterium bolustinum for Enriching Animal Feed
Flavobacterium bolustinum and its extracellular cellulase were tested for animal feed pretreatment. The fibrolytic enzymes, cellulase and pectinase were applied to various crop residues such as wheat straw, rice straw, corn seeds and sorghum for enriching animal feed. Different parameters like temperature, incubation time and enzyme dose had been optimized for maximum reducing sugar and protein release. The highest amount of reducing sugar obtained was 29.83 mg g-1 dry substrate and soluble protein was 27.34 mg g-1 dry substrate on single cellulase enzyme treatment at 50°C for 6 h. An increase in amount of released reducing sugar (39.5 mg g-1 dry substrate) and protein (33.88 mg g-1 dry substrate) was observed when enzyme cocktail (cellulose and pectinase) was used. Solid state fermentation using F. bolustinum had also been performed for all crop residues. It released higher amount of reducing sugar (41.36 mg g-1) and protein (47.21 mg g-1) as compared to enzymatic treatment. Different substrates resulted in appreciable weight loss by enzymatic treatment (15-35%) as well as fermentation using F. bolustinum (40%). Liquefaction of lignocellulosic rich crop residues, for better utilization of feed has never been reported earlier
Cost Comparison between Laparoscopic and Open Appendectomies in Children
Objectives: Laparoscopic appendectomy (LA) for children has become very popular and is routinely performed in most health care centres around the world. The cost of surgical procedures is always a concern for patients and health care providers. This study compares, the total cost of open appendectomy (OA) with LA in children who required an appendectomy for acute appendicitis. Suitable and safe cost-effective techniques were also explored to reduce the cost of these procedures. Methods: The medical records of all the children (ranging between 0 and 12 years) at Sultan Qaboos University Hospital in Oman, who required OA or LA from June 2009 to July 2011, were reviewed. Results: LA were performed in 75 patients while OA were done in 34. Patients from the OA and LA groups were age- and gender-matched. The average operative time was 76 minutes for LA and 49 minutes for OA (P <0.001) while the average hospital stay was 3.14 days for LA and 2.15 days for OA (P = 0.08). The average cost of the two procedures was Omani riyals (OMR) 534 for LA and OMR 343 for OA (P = 0.00). The complication rate following procedures was lower in the case of LA, however this was not statistically significant (LA = 8% versus OA = 11.7 %, P = 0.32). Conclusion: LA are costlier procedures than OA, however they are as safe as OA, and do not increase morbidity or the duration of hospital stay
Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature
<p>Abstract</p> <p>Background and Case Presentation</p> <p>A patient with nevoid basal cell carcinoma syndrome (Gorlin syndrome) presented with two unusual clinical features, i.e. adenocarcinoma of the small bowel and extensive mesenchymal proliferation of the lower gastrointestinal tract.</p> <p>Conclusions</p> <p>We discuss the possibility that these two features are pathogenetically linked to the formerly undescribed patient's <it>PTCH </it>germ line mutation.</p
Is it possible folic acid reduce anorectal malformations ethylenethiourea induced in rats?
- …