Replication study identified EFEMP1 association with varicose vein predisposition among Indians.

BACKGROUND: Varicose vein is a chronic condition that affects the lower extremities of the human body. Several factors have been implicated in the development of this disease, viz age, gender, weight, height and prolonged standing. Recently, genome-wide studies have identified genetic biomarkers that are associated with varicose veins in different ethnic groups. Such genetic studies are lacking in South Asians specifically in Indians where the prevalence of varicose veins is high, and it is important to replicate these variants in the stated population. The study aimed to replicate the association of genetic variants associated with varicose veins in this target population, which were found to be associated with the other ethnic groups. METHODOLOGY: The studied cohort is of the Indian population comprising unrelated 104 varicose veins cases and 448 non-varicose vein controls. The samples were genotyped using the Illumina Global Screening Array. Using the genomic data from UK BioBank and 23andMe studied cohorts; eight genetic variants were selected to replicate in our dataset. The allelic association was performed to identify the effective allele and risk was estimated using odds ratio and p-value as level of significance. Multifactor Dimensionality Reduction was used to estimate the cumulative effect of variants in Indians. RESULT: Variant rs3791679 of EFEMP1 was found to be associated with varicose veins in Indians. After observing the association of the EFEMP1 with varicose veins, we further ensued to identify all genetic variants within EFEMP1 to uncover the additional variants associated with this trait. Interestingly, we identified six new variants of EFEMP1 gene that have shown association. Moreover, the cumulative effect of all associated variations was estimated and the risk was 2.7 times higher in cases than controls whereas independently their effect ranges from 0.37-1.58. CONCLUSION: This study identifies EFEMP1 as a potential gene related to the risk of varicose veins in Indians. It also highlights that evaluating the maximum number of variants of a gene rather than focusing solely on replicating single variations offers a more comprehensive and nuanced understanding of the genetic factors contributing to a complex trait like varicose veins.

Modified Two Wire Technique Using Fogarty Catheter in Antegrade Femoral Access.

BACKGROUND: Antegrade femoral access is a routinely used technique for infra-inguinal interventions. However, it can be challenging in cases of high femoral bifurcations, obliterative disease process and obese patients. PURPOSE: A simple method of antegrade access using a Fogarty catheter and guide wires, under flouroscopic control is presented , which has lead to easy access in obliterative disease of SFA with minimal complications. RESULTS: We have done fourteen successful punctures using this technique over the past 6 months. In obese patients or patients with a pannus another assistant was used to pull the pannus back while doing the procedure. However, in two cases, while withdrawing the sheath into the CFA, there was inadvertent slippage of sheath outside the lumen of CFA. Immediate haemostasis was ensured by pulling the inflated Fogarty catheter backwards followed by manual compression before reintroducing the sheath inside the lumen. In both these cases, the patients were obese with a pannus and our puncture angle was more vertical which most probably led to this complication. However, post intervention results were satisfactory with no evidence of any pseudoaneurysm formation. CONCLUSION: This simple method allows to achieve antegrade SFA access in a safe and secure manner.

Endovascular salvage of tubercular aortitis presenting as descending thoracic aortic pseudoaneurysm in association with vertebral tuberculosis.

A gentleman in his late 30s presented with a history of evening rise of temperature and generalised malaise of 1-week duration. He had associated upper back pain with tingling and numbness of both lower limbs. An unexplained episode of hypotension with hemoptysis propelled a computed tomography (CT) examination of chest which was suggestive of a pseudoaneurysm of the posterior wall of descending thoracic aorta in the vicinity of the Pott's spine with a prevertebral and paravertebral abscess, for which he was referred to vascular surgeons.Tubercular involvement of vasculature is a rare disease, aortic involvement even rarer. Less than 50 cases of vertebral tuberculosis with tubercular thoracic aortic aneurysm have been reported in the medical literature, but the disease carries a colossal mortality and morbidity.After a multidisciplinary teamwork, thoracic endovascular aortic repair was done for exclusion of the aneurysmal segment, with simultaneous antitubercular and broad-spectrum antibiotic chemotherapy. The patient recuperated well.

Carotid artery web with fetal posterior cerebral artery variant masquerading as recurrent ipsilateral cryptogenic ischaemic strokes.

A 31-year-old woman was referred to vascular surgeons with the history of recurrent ischaemic strokes in two cerebral artery territories over a span of 1 year. On investigation, she was found to have a right internal carotid artery web, with thrombus and a fetal right posterior cerebral artery (PCA), which explained the ischaemic strokes in right middle cerebral and PCA territory. The rare association of these two infrequent entities makes the case a singular one in the medical literature. Successful surgical excision was done after multidisciplinary teamwork. The carotid web was excised as part of carotid artery endarterectomy and repaired with great saphenous vein patch angioplasty. The patient made a good recovery.