Understanding the Genetic Basis of Celiac Disease: A Comprehensive Review.

Celiac disease is an immune-mediated enteropathy with typical symptoms of weight loss, abdominal bloating, diarrhea, vomiting, or constipation. Many shreds of evidence show that CeD is hereditary in origin and various biochemical pathways have been connected to its etiology. Numerous genes from different physiological pathways have been investigated in the last few decades, however a comprehensive analysis is required to address the gaps and provide a more integrated understanding of how these genetic factors contribute to the pathogenesis of disease. Present study attempts to summarize the historical and up-to-date findings to understand the role of genetics in Celiac disease. The literature was searched from sources such as PubMed and Google Scholar to analyze studies conducted on celiac disease from the years 1995 to 2024. Term maps were created to examine the frequency of studies related to various terms to understand the major focus of the studies till date. The study also concise the different genetic polymorphisms studied in a table to understand the role of genetics in celiac diseases. Early studies on celiac disease primarily focused on its pathophysiology, prevalence, and general aspects, with limited attention to genetics. However, recent studies have increasingly emphasized the genetic basis of the disease and highlighting the involvement of various pathways like inflammation, T-cell differentiation and activation, epithelial barrier function, stress and apoptosis pathways. However, present study indicate that most current research predominantly focus on cytokines, specifically the TNF alpha gene. Consequently, there is a need for additional research to gain a more comprehensive understanding of the genetics of celiac disease.

Diagnosis of abdominal tuberculosis by multi-targeted (mpt64 and IS6110) loop-mediated isothermal amplification assay.

BACKGROUND AND AIM: Diagnosis of abdominal TB is an exigent task due to variable anatomical sites and non-specific clinical manifestations that closely resemble other diseases. Most of the available diagnostic modalities yield low sensitivities and need expertise to handle the specialized equipment. Hence, there is an urgent need to develop a rapid and reliable diagnostic test, so as to reduce the unnecessary morbidity. Therefore, we designed a multi-targeted loop-mediated isothermal amplification (MT-LAMP) for diagnosing abdominal TB. METHODS: We evaluated an MT-LAMP (using mpt64 and IS6110) to diagnose abdominal TB within ascitic fluids and intestinal/peritoneal biopsies and compared these results with multiplex-PCR (M-PCR) using the same targets. MT-LAMP products were analyzed by gel electrophoresis and visual detection methods, that is, hydroxy naphthol blue and SYBR Green I reaction. RESULTS: Sensitivities of 80.9% and 84.6% were obtained in suspected (n = 42) and total abdominal TB (n = 52) cases, respectively by gel-based MT-LAMP, with 97.3% (n = 37) specificity in non-TB controls. Notably, sensitivities attained by gel-based/SYBR Green I MT-LAMP in both clinically suspected and total abdominal TB cases were significantly higher (P < 0.05) than M-PCR. Furthermore, sensitivity obtained with SYBR Green I was equivalent to that of gel-based MT-LAMP, while somewhat lesser specificity (94.6%) was attained with SYBR Green I, compared with gel-based MT-LAMP. CONCLUSION: Both gel-based and SYBR Green MT-LAMP exhibited equivalent sensitivities to diagnose abdominal TB. Because SYBR Green LAMP is easier to perform than a gel-based assay, we are currently focused on improving the specificity of this assay so as to develop a diagnostic kit.

Diagnosis of peritoneal tuberculosis by real-time immuno-PCR assay based on detection of a cocktail of Mycobacterium tuberculosis CFP-10 and HspX proteins.

BACKGROUND: Diagnosis of peritoneal TB is difficult owing to unusual clinical manifestations and low sensitivities obtained with most of the available diagnostic modalities. Hence, there is an urgent need to design a reliable diagnostic test so that an early therapy is initiated. RESEARCH DESIGN AND METHODS: We designed a quantitative real-time immuno-PCR (RT-I-PCR) assay to detect a cocktail of Mycobacterium tuberculosis CFP-10 (Rv3874) and HspX (Rv2031c) proteins in clinical samples (ascitic fluids and peritoneal biopsies) of peritoneal TB patients, and results were compared with I-PCR/ELISA. RESULTS: A wide range of CFP-10+ HspX (0.6 pg/mL to 9.9 ng/mL) was detected in clinical samples of peritoneal TB patients by RT-I-PCR, whereas ELISA exhibited a narrow range (3 ng/mL to 11.5 ng/mL). Sensitivities of 81.5% and 65.7% and specificities of 92.5% and 90% were obtained in a total of 78 cases (comprising 38 peritoneal TB and 40 non-TB controls) by RT-I-PCR and I-PCR, respectively. Markedly, sensitivity obtained by RT-I-PCR was significantly higher than I-PCR (p = 0.0143) and ELISA (p = 0.0005). CONCLUSIONS: Our RT-I-PCR revealed good accuracy for the rapid diagnosis of peritoneal TB cases. After further improving the specificity and reducing the cost, this assay may develop into a diagnostic kit.

Dietary Practices as a Potential Predictor for Dental Erosion among Patients Having Gastroesophageal Reflux Disease: An Analytical Cross-sectional Study.

Aim: The aim of this study was to assess how dietary practices impact gastroesophageal reflux disease (GERD) patients in Haryana state, India, from the perspective of either preventing or promoting dental erosion. Objectives: The primary objective of this study was to find a correlation between the presence of dental erosion and dietary practices among patients with GERD.The secondary objective of this study was to assess the correlation between GERD patients' dietary practices and dental erosion severity. Materials and Methods: Three hundred and thirty study participants, who've been 18 years of age or older with the diagnosis of GERD for at least six months or more were included. Evaluation of dental erosion was performed with basic erosive wear examination (BEWE) index. On age, gender, medical history, medication history, and dietary habits, a pretested structured questionnaire was used. Statistical analysis software SPSS (Statistical Package for the Social Sciences) variant 20.0 was used to conduct the statistical analysis. Analytic statistics and descriptive statistics were used in the data analysis. Results: Dental erosion was present in 84.8% of the study participants. The majority of study participants, 122 (37%), had no risk of dental erosion. The occurrence of dental erosion was shown to be substantially adversely associated to the intake of acidic meals and soft drinks in the present investigation (odds ratio [OR] = 0.5, P < 0.05). There has not been any proven link between the severity of dental erosion and the frequency of consuming acidic meals, fruit juice, and soft drinks. Milk consumption frequency and dental erosion severity were observed to be considerably inversely associated (r = -0.1, P = 0.001). Conclusion: Patients with GERD frequently experienced dental erosion. One probable risk factor for the development of erosive dental lesions can be considered GERD. Most of the patients had dental erosion with a low degree of severity. When dental erosion occurs, the mineral quantity that dissolves from enamel is influenced by several factors, including the buffering action of the acids, pH, and duration of exposure. Whereas if the food and drinks contain adequate amounts of fluoride, calcium, and phosphate, the dissolution can be prevented. The intake of fruit juice, acidic foods, as well as soft drinks was not consumed to be a risk factor in the current study for directly causing or for promoting the severity of dental erosion since they were consumed less frequently. A higher frequency of milk ingestion was found to reduce the severity of dental erosion. Regular milk consumption could be regarded as an alternative dietary practice to stop dental erosion. As dental erosion is a complex condition, it's essential to have an early diagnosis and implement the proper preventive measures. It is vital to inform people about dental erosion and how it is interrelated to GERD and dietary practices.

Clinical Profile of Alcoholic Liver Disease in a Tertiary Care Centre and its Correlation with Type, Amount and Duration of Alcohol Consumption.

INTRODUCTION: Alcoholic liver disease (ALD) is a major cause of mortality and morbidity worldwide. Various studies show contradictory results about the role of amount, type and duration of alcohol exposure in determining the risk to develop ALD with ethnic variations in susceptibility to develop ALD and South Asians are shown to be more prone to develop ALD. This study was carried out to evaluate clinical profile of ALD in Indian population and to find out the correlation of disease severity and outcome with alcohol intake. MATERIAL AND METHODS: 201 patients of ALD were evaluated to correlate their clinical complications, biochemical parameters, prognostic markers (Discriminant function [DF] score, Model for end-stage liver disease [MELD] score and Child-Pugh score) and in-hospital mortality with their alcohol intake data in form of type, amount and duration of alcohol intake. RESULTS: Hepatic encephalopathy, neutrophil to lymphocyte ratio (NLR) and all three prognostic scores showed a dose-dependent relation with the amount of alcohol intake (p < 0.05). However, the mortality rate didn't show a significant relation with amount. Further the type of alcohol intake didn't show any relation with disease severity; however, the duration of alcohol intake showed a positive relation with mortality rate. NLR emerged as a useful bedside marker of disease severity which correlates well with all prognostic markers (p < 0.05 for NLR's Spearman correlation with DF score and Child-Pugh Score), more so with MELD score (p < 0.0001); and complications like hepatic encephalopathy and hepato-renal syndrome. NLR also correlated with mortality rate but it was not statistically significant.

Outcome of patients with liver cirrhosis admitted to a specialty liver intensive care unit in India.

PURPOSE: The study aimed to describe the clinical outcome of patients with liver cirrhosis admitted to intensive care unit (ICU) and to compare the performance of Acute Physiology and Chronic Health Evaluation (APACHE) II and Sequential Organ Failure Assessment (SOFA) in predicting mortality. METHODS: In this prospective study of patients with cirrhosis admitted to the ICU, demographic data, APACHE II score, SOFA score, presence of acute renal failure (ARF), need for organ support, and mortality were collected. RESULTS: The observed mortality in ICU and at 30 days among 104 patients was 42.3% (95% confidence interval [CI], 32.7%-52.0%) and 56.7% (95% CI, 47.0%-66.4%), respectively. Area under the receiver operating characteristic curve for first-day APACHE II in predicting 30-day mortality was 0.90 (95% CI, 0.83-0.96) and 0.93 (95% CI, 0.88-0.98) for SOFA score (P = .24). On multivariate analysis, ARF (adjusted odds ratio, 7.7; 95% CI, 1.09-54.64) and mechanical ventilation (adjusted odds ratio, 277.6; 95% CI, 12.83-6004.94) were significantly associated with mortality. CONCLUSIONS: Presence of ARF and need for mechanical ventilation are associated with high mortality in patients with liver cirrhosis admitted to the ICU. Acute Physiology and Chronic Health Evaluation II and SOFA are good prognostic models in predicting 30-day mortality and do not differ in performance.