Ellis van Creveld syndrome: An unusual presentation at birth

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

Role of eNOS and TGFβ1 gene polymorphisms in the development of diabetic nephropathy in type 2 diabetic patients in South Indian population

Background Diabetic nephropathy is known to be a leading complication of diabetes mellitus, characterized by diverse aspects such as high urinary albumin level, elevated blood pressure, and genetic susceptibility leading to end-stage renal disease. The current study was carried out to investigate the association of eNOS and TGFβ1 gene polymorphisms in the progression of diabetic nephropathy among type 2 diabetic patients in the South Indian population. The eNOS and TGFβ1 genetic variants were genotyped in 280 T2DM patients, 140 with DN, 140 without DN, and 140 controls. Genotyping was performed using ARMS PCR and the genomic variants were confirmed by the Sanger sequencing method. Results A significant (p < 0.05) association was observed in the genotypic frequencies of eNOS (G > T) polymorphism in the T2DM patients with diabetic nephropathy when compared to controls. The frequency of TT (heterozygous) genotype was observed to increase in patients with type 2 diabetes and DN when compared to the diabetic patients without DN and controls. This indicates that diabetic patients with TT genotype are at an increased risk to develop DN. However, TGFβ1 (G > C) polymorphism did not show any association in the allele and genotypic frequencies with DN when compared with T2DM and controls. Conclusion The results of the study propose a strong influence of TT genotype of eNOS gene be significantly linked with diabetic nephropathy in T2DM patients. Whereas no association was examined concerning TGFβ1 gene polymorphism and DN. Nevertheless, large sample size studies are required to confirm the part of these genetic variants in the development of DN.

COMPARATIVE STUDY OF PLATELET COUNT IN DIABETIC AND NON-DIABETIC GERIATRIC POPULATION

Geriatric population (> 60 years) is rapidly increasing in India, It has been increased upto 8.6% in 2011. Diabetes Mellitus (DM) is a metabolic disorder and a major health problem, a?ecting a large section of the Indian population, especially as its incidence increases with advancing age. Host of complications are associated with this disease, one of which is the e?ect on platelet count. This study compares platelet count between diabetic and non-diabetic elderly. It is observed that Hyperglycaemia in diabetic persons is responsible for increased Thrombopoietin production at the cellular level, which leads to raised platelet count -Reticulated Thrombocytosis – when compared to non diabetics. Platelets, especiallyreticulated thrombocytes are associated with uncontrolled blood sugar levels in the body and are well known for their role in artherosclerotic cardiovascular disease (CVD). Keywords: platelet count, diabetic and non-diabetic & geriatric.

A tertiary care prospective of epidemiology and etiopathogenesis of esophageal carcinoma from Northern India

Background: Esophageal cancer is considered to be a one of the most lethal malignancy. Indian population have seen a lot of changes in the epidemiology of this deadly cancer. However very few studies have been done from northern India regarding the epidemiology and etiopathogenesis of this disease. Majority of esophageal cancers (about 90%) are either squamous cell or Adenocarcinoma. Any factor that causes chronic irritation and inflammation of the esophageal mucosa appears to increase the incidence of the esophageal. The aim of the study was to perform an epidemiological study and determine the various factors that are implicated in the pathogenesis of carcinoma esophagus.Methods: This study was conducted in the department of general surgery, Government Medical College, Jammu, as an observational prospective study. It took into account the patients from 2015 to 2020. A total of 23 patients of carcinoma oesophagus who presented to Outdoor patient wing of department of surgery were included in the study. After detailed history, examination and investigations, the various variables were extracted and data was processed.Results: In this study, the majority of people were from rural areas in their seventh decade of life with males: female ratio of 3:1. The majority of people complained of dysphagia and weight loss. The site of tumor was Gastroesophageal junction.Conclusions: This study emphasised the need of health education in our population, especially in young adults to lessen the risk factors for carcinoma esophagus.

Tumor Tissue-Specific Bacterial Biomarker Panel for Colorectal Cancer: Bacteroides Massiliensis, Alistipes Species, Alistipes Onderdonkii, Bifidobacterium Pseudocatenulatum, Corynebacterium Appendicis

Human microbiome studies have shown diversity to exist among different ethnic populations. However, studies pertaining to the microbial composition of CRC among the Indian population have not been well explored. We aimed to decipher the microbial signature in tumor tissues from North Indian CRC patients. Next-generation sequencing of tumor and adjacent tissue derived bacterial 16s rRNA V3-V4 hypevariable regions was performed to investigate the abundance of specific microbes. The expression profile analysis deciphered a decreased diversity among the tumor-associated microbial communities, and at the phyla level, Proteobacteria was differentially expressed in CRC tissues than adjacent normal. Further, DESeq2 normalization identified 4 out of 79 distinct species (p<0.005) only in CRC, Bacteroides massiliensis, Alistipes onderdonkii, Bifidobacterium pseudocatenulatum, and Corynebacterium appendicis. Thus, our findings suggest the use of these microbial signatures as putative biomarkers that can distinguish CRC tissues from their adjacent normal, which may shed light on the pathogenesis of CRC.

Changes in Immunological Parameters by Aging in Rural Healthy Indian Adults and their Associations with Sex and Lifestyle

Several factors including sex and lifestyle have been reported to contribute to age-related alteration of immune functions. The study was undertaken to determine age-related differences in the proportion of peripheral blood mononuclear lymphocytes in the Indian population using blood samples from 67 healthy adults (33 females and 34 males) aged between 20 and 80 years old. In the linear regression analysis to estimate the relationship with age categories, there was a significant increase in the frequency of natural killer cells with aging, while their cytolytic activity significantly declined. The frequency of CD4+ T cells increased with age whereas that of CD8+ T cells decreased, resulting in age-associated increase of CD4/CD8 ratio. The subsets of B cells did not show any significant relationship with age. Although there were variations between the male and female subgroups in effect size of aging, the trends were in the same direction in all the parameters. Reduced fat intake was associated with the lower frequency of CD4+ T cells, and higher serum cotinine level was associated with higher CD4/CD8 ratio. The results indicate that cellular immunity in the Indian population is affected with aging, while the humoral immunity is less susceptible to aging.

Hypertension awareness, treatment, and control and their association with healthcare access in the middle-aged and older Indian population: A nationwide cohort study

Background Hypertension is the most important cardiovascular risk factor in India, and representative studies of middle-aged and older Indian adults have been lacking. Our objectives were to estimate the proportions of hypertensive adults who had been diagnosed, took antihypertensive medication, and achieved control in the middle-aged and older Indian population and to investigate the association between access to healthcare and hypertension management. Methods and findings We designed a nationally representative cohort study of the middle-aged and older Indian population, the Longitudinal Aging Study in India (LASI), and analyzed data from the 2017–2019 baseline wave (N = 72,262) and the 2010 pilot wave (N = 1,683). Hypertension was defined as self-reported physician diagnosis or elevated blood pressure (BP) on measurement, defined as systolic BP ≥ 140 mm Hg or diastolic BP ≥ 90 mm Hg. Among hypertensive individuals, awareness, treatment, and control were defined based on self-reports of having been diagnosed, taking antihypertensive medication, and not having elevated BP, respectively. The estimated prevalence of hypertension for the Indian population aged 45 years and older was 45.9% (95% CI 45.4%–46.5%). Among hypertensive individuals, 55.7% (95% CI 54.9%–56.5%) had been diagnosed, 38.9% (95% CI 38.1%–39.6%) took antihypertensive medication, and 31.7% (95% CI 31.0%–32.4%) achieved BP control. In multivariable logistic regression models, access to public healthcare was a key predictor of hypertension treatment (odds ratio [OR] = 1.35, 95% CI 1.14–1.60, p = 0.001), especially in the most economically disadvantaged group (OR of the interaction for middle economic status = 0.76, 95% CI 0.61–0.94, p = 0.013; OR of the interaction for high economic status = 0.84, 95% CI 0.68–1.05, p = 0.124). Having health insurance was not associated with improved hypertension awareness among those with low economic status (OR = 0.96, 95% CI 0.86–1.07, p = 0.437) and those with middle economic status (OR of the interaction = 1.15, 95% CI 1.00–1.33, p = 0.051), but it was among those with high economic status (OR of the interaction = 1.28, 95% CI 1.10–1.48, p = 0.001). Comparing hypertension awareness, treatment, and control rates in the 4 pilot states, we found statistically significant (p < 0.001) improvement in hypertension management from 2010 to 2017–2019. The limitations of this study include the pilot sample being relatively small and that it recruited from only 4 states. Conclusions Although considerable variations in hypertension diagnosis, treatment, and control exist across different sociodemographic groups and geographic areas, reducing uncontrolled hypertension remains a public health priority in India. Access to healthcare is closely tied to both hypertension diagnosis and treatment.