SOX9 gene shows association with adolescent idiopathic scoliosis predisposition in Northwest Indians.

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is a common structural deformity of the spine affecting adolescent individuals globally. The disorder is polygenic and is accompanied by the association of various genetic loci. Genetic studies in Chinese and Japanese populations have shown the association of genetic variants of SOX9 with AIS curve severity. However, no genetic study evaluating the association of SRY-Box Transcription Factor 9 (SOX9) variants with AIS predisposition has been conducted in any Indian population. Thus, we aimed to investigate the association of the genetic variants of the SOX9 along with 0.88 Mb upstream region with AIS susceptibility in the population of Northwest India. METHODS: In total, 113 AIS cases and 500 non-AIS controls were recruited from the population of Northwest India in the study and screened for 155 genetic variants across the SOX9 gene and 0.88 Mb upstream region of the gene using Global Screening Array-24 v3.0 chip (Illumina). The statistical significance of the Bonferroni threshold was set at 0.000322. RESULT: The results showed the association of 11 newly identified variants; rs9302936, rs7210997, rs77736349, rs12940821, rs9302937, rs77447012, rs8071904, rs74898711, rs9900249, rs2430514, and rs1042667 with the AIS susceptibility in the studied population. Only one variant, rs2430514, was inversely associated with AIS in the population, while the ten variants were associated with the AIS risk. Moreover, 47 variants clustered in the gene desert region of the SOX9 gene were associated at a p-value ≤ 0.05. CONCLUSION: The present study is the first to demonstrate the association of SOX9 enhancer locus variants with AIS in any South Asian Indian population. The results are interesting as rs1042667, a 3' untranslated region (UTR) variant in the exon 3 and upstream variants of the SOX9 gene, were associated with AIS susceptibility in the Northwest Indian population. This provides evidence that the variants in the enhancer region of SOX9 might regulate its gene expression, thus leading to AIS pathology and might act as an important gene for AIS susceptibility.

Bacterial Isolates and Their Antimicrobial Susceptibility Profile in Osteomyelitis Patients: An Experience From a Tertiary Care Center in a Hilly Area of Uttarakhand.

Osteomyelitis, an infection related to bone and bone marrow, is very diverse in its pathophysiology and clinical presentation; hence, it is considered one of the most difficult-to-treat infections. The present study is aimed at assessing the microbiological profile of osteomyelitis and related antimicrobial susceptibility patterns in patients attending a tertiary care center in Uttarakhand, India, over a period of one year (January to December 2019). In aerobic culture, 58/105 (55.2%) bacterial isolates were detected. In addition, Staphylococcus aureus was the most common isolate, and amongst Gram-negative bacilli, most isolates that grew on culture were Escherichia coli (22.4%). Out of 21 S. aureus isolates, methicillin resistance was detected in nine [9/21 (42%)] cases, which is a matter of concern. Hence, proper training and application of antimicrobial stewardship are the need of the hour so that clinicians can initiate targeted therapy as early as possible.

Prevalence of Hepatitis B and Hepatitis C in Patients undergoing hemodialysis at a teaching hospital in Uttarakhand.

Introduction: Hemodialysis (HD) requires blood exposure to infectious materials through the extracorporeal circulation for a prolonged period, and exposure to risk factors for nosocomial infections is always there. Aims and Objectives: To determine the prevalence of hepatitis B and hepatitis C in patients undergoing hemodialysis and evaluate the various modes of transmission involved in the causation of the infection. Materials and Methods: A total of 60 patients with chronic kidney disease, admitted to our hospital for HD, were screened for hepatitis B surface antigen (HBsAg) and anti-HCV antibodies. A questionnaire was designed to evaluate risk factors and data were generated to evaluate the significance of the association. Results: Out of 60 subjects, an anti-HCV antibody was detected in 31.68% of patients and 11.66% of patients were positive for HBsAg. The maximum anti-HBV-positive patients were in >60 years of age group (11.53%), whereas the maximum HCV-positive patients were between 41 and 50 age group (23.07%). Most of the HCV-positive patients (54.54%), as well as HBV-positive patients (23.52%), received hemodialysis 50 to 100 times. The major primary disease-causing end-stage renal disease (ESRD) included chronic nephritis (35%). The duration of dialysis, multiple blood transfusions, drug addiction, and body piercing/tattooing were also observed as significant risk factors. Conclusion: In HD patients, viral hepatitis poses a significant health hazard, particularly in developing countries. HBV vaccination, strict adherence to the universal precautions, segregation of HBV-positive patients can control HBV infection in HD units. However, for HCV, the absence of a specific vaccine and the nosocomial transmission of the virus increase the peril more.

The first study of epidemiology of adolescent idiopathic scoliosis shows lower prevalence in females of Jammu and Kashmir, India.

AIS is a heterogeneous 3D spinal deformity with Cobb angle ≥10°. It affects children in the age group of 10-16 years globally with 2-3% prevalence and significant female predominance. The exact etiology of AIS is not known however, it is supposed to be associated with factors such as anthropometric, metabolic, neuromuscular abnormalities and genetics. OBJECTIVES: To determine the prevalence of AIS and association of anthropometric factors with AIS in the studied population group. METHODOLOGY: Scoliosis screening of 9,500 individuals was carried out at different educational institutions of Jammu region in Jammu and Kashmir, India using a scoliosis-meter. The subjects were later examined radiologically. RESULTS: In population of the region, AIS was most prevalent among all types of scoliosis with overall prevalence of 0.61%. The prevalence was observed to be lower in females (0.31%) than males (0.88%). Based on angle of trunk rotation (ATR), lumbar curves were more prevalent than thoracic curves. Average Cobb angle in males and females were 24.9° and 22.6°, respectively. BMI showed significant association with AIS in the age group of 12-16 years (P value =0.028). Furthermore, height was significantly associated with AIS in the overall screened population (P-value =0.029). CONCLUSIONS: The AIS patients in the Jammu region of India have unique clinical features. In contrast to the global prevalence data, the prevalence of AIS in females in the region was less in comparison to males. Based on epidemiological literature and our findings, we hypothesized that genetic factors might be a major contributor in the AIS pathogenesis along with other confounding factors such as height, BMI, ethnicity, etc.

Clinico-epidemiological profile of Influenza A H1N1 cases at a tertiary care institute of Uttarakhand.

INTRODUCTION: The swine (H1N1) virus responsible for worldwide pandemics since 2009 is now causing seasonal epidemics. Since then alarming spikes of swine flu cases have been reported from Uttarakhand every year. There are limited studies conducted in this Himalayan belt to evaluate the clinical and epidemiological profile of the patients admitted in tertiary care hospitals. AIMS & OBJECTIVES: This study aims to summarize the clinical and epidemiological attributes of swine flu and to approximate the burden of Influenza A H1N1 (Swine Flu) cases in this Himalayan belt. MATERIAL AND METHODS: Clinical and epidemiological characteristics of influenza A H1N1 cases from October 2018 to April 2019 were retrospectively and descriptively analyzed using data from the Medical Records Section and the isolation ward at Shri Guru Ram Rai Institute of Medical and Health Sciences; Shri Mahant Indiresh hospital. RESULTS: A total of 1126 (51.6%) patients were tested of which 30% (338) patients were found to be H1N1 positive. Maximum cases and positivity were detected in the months of January (26.4%), February (50.3%), and March (14.8%), and the patients in the age groups of 41-50 (21.9%) and 51-60 years (19.3%) accounted for majority of the cases. The most common symptoms were fever (85.8%), cough (82.2%), sore throat (82%), and breathlessness (71.3%). A case fatality ratio of 10.9% was observed. A significant statistical association (p value < 0.00001) was reported between co-morbid conditions and death. CONCLUSION: According to the results of this study, close caution should be exercised in case of patients infected with H1N1 particularly those with co-morbidities.