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.

Early Experience with Sine Wave Technique for Superficialization of a difficult to cannulate Arterio Venous Fistula.

OBJECTIVE: To highlight safety and efficacy of sine wave technique (SWT) in superficializing deep arterio venous fistula (AVF) and managing infiltrations and other complications. METHODS: It is a single center observational study done from Jul 2017 to July 2020. All successive cases of deep AVFs, aneurysm / pseudoaneurysms of AVFs, and AVFs requiring open venoplasty were managed with SWT. Data was collected prospectively and analyzed. SWT is based on random pattern skin flaps. Using ultrasound, a line is marked on either side of centre line (AVF) at a distance of approximately 1.5-2 cm. A sine wave is drawn starting from either of the lines to the other with multiple crests and troughs. The base of flap should be double the height of the flap, that is, about 3-4 cm. Skin is incised and flaps are raised at level of AVF. Excess fat is removed. A sliver of unhealthy skin can be sacrificed if required. Flaps are sutured back to restore sine wave continuity. RESULTS: SWT was used in a total of eleven patients. Median age was 58 years (range 10-67 years). Eight were females and three males. One was radio-cephalic and rest were brachio-cephalic AVFs. Eight AVFs were deep with median depth of 10.25mm (range 8-13mm), median body mass index of 25.5 kg/m2 (range 23.9-26.5kg/m2), median vein diameter of 7 mm (range 6-8 mm), and median flow rate of 1137.5ml/min (range 650- 1380 ml/min). Out of eight, four AVFs presented with infiltration. In other three, SWT was used for exposing AVF to treat underlying pathology (one case each of aneurysm, pseudoaneurysm & stenosis). Ten cases were done under local or regional anesthesia and one under general anesthesia. There was no peri-operative mortality or loss of AVF. Transient limb oedema developed in one case. Median time to cannulate was 20 days (range 13-28 days). Median follow up was 13 months (range 6 - 31months). Cumulative patency at 18 months was 90% (95% CI 47.3%-98.53%) and 45 % (95% CI 9.9%-87.1%) at 24months and at the end of the study. CONCLUSION: SWT is safe and effective in superficialization of deep / difficult to cannulate AVF as well a good approach to treat complications like infiltration. Post procedure cannulation time is reasonably short.

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.

Childhood cerebral vivax malaria with pancytopenia.

We report on a 7-year-old girl with cerebral vivax malaria complicated by pancytopenia. The diagnosis of malaria was done by demonstration of trophozoites of Plasmodium vivax in the peripheral blood smear and confirmed by both a species-specific antigen detection technique and a sensitive polymerase chain reaction method. There was depression of all 3 blood cell lines. No overt manifestations attributed directly to pancytopenia were noted. The patient responded promptly to artesunate and pancytopenia was managed conservatively. To our knowledge, this is the first report of pancytopenia complicating childhood cerebral vivax malaria in the English literature.

Plasmodium vivax cerebral malaria.

We report two cases of Plasmodium vivax malaria (both aged 12 years) complicated by seizures and symptoms of diffuse meningoencephalitis. One had predominantly meningeal signs while in the other, purely encephalitis features were present. Both cases were treated with artesunate. Rarely, cerebral malaria is a presenting complication or occurs during the course of P. vivax infection.