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.

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.

Cross-border firing and injury patterns.

INTRODUCTION: Cross-border firing are increasingly being common in the modern era. The injuries resulting from these low intensity conflicts are a source of anxiety among treating physicians and their respective governments. The provisions are required to minimise the suffering of the victims viz. Mode of injuries, mortality patterns, adequacy of treatment at pre-hospital and tertiary care hospital and provisions to decrease morbidity and mortality for the people living in these areas. MATERIALS AND METHODS: A retrospective study was conducted in GMCH, Jammu who suffered injuries due to cross border firing in the month of October, 2014. 68 patients were reported in the causality wing. All the patients were referred from level 2 trauma centre. There were 51 males and 17 females out of which 5 were children. The cause of injury, involvement of organ system, cause of mortality and morbidity and loopholes in prehospital management were identified. RESULTS: Sharpnel were the most common cause of injury followed by indirect trauma. The common cause of mortality was abdominal and thoracic injuries. There were 4 deaths at hospital 2 of which were brought dead and 2 died during the course of treatment. There were twenty patients with extremity injuries, fourteen with chest trauma, eleven with abdomen including parineal injuries, three with head injuries, eight with ENT injuries, three with eye injuries and nine with splinters in the back out of which two were in the spinal canal. CONCLUSION: Prehospital stabilisation, early transport, in-transit resuscitation, immediate surgery if required and implementation of triage model and ATLS protocol has been the key to reduce mortality and morbidity.

Giant cell tumor of talus: a case report.

Giant cell tumor of talus is a rare entity. In contrast to GCT of long bones, most cases occur in a younger age group and tend to be multicentric. The authors report a case of GCT in a 19 year old boy which had led to extensive destruction of the talus. In view of the extensive involvement, total talectomy along with tibio - calcaneal arthrodesis was performed. At 6 months of followup, the patient had a painless and well arthrodesed ankle. There was no evidence of recurrence at 18 months of followup.