Introduction. Melanoma is the most aggressive type of skin cancer, with poor prognosis in advanced stages. The incidence and mortality rates have increased in recent years. Single nucleotide polymorphisms p.R24P, p.M53I, p.G101W, p.V126D, and p.A148T in the CDKN2A (HGNC ID: 1787) gene have been associated with the development of melanoma in different populations; however, this association has not been studied in Colombia. Methods. Cutaneous melanoma patients and healthy controls (85 cases and 166 controls) were included in this study. These subjects were screened through HRM-qPCR assay and detected variants in exon 1 and 2 of CDKN2A gene and confirmed with Sanger sequencing. Chi-square test was used to compare allele and genotype distributions between cases and controls. Odds ratio (OR) with 95% confidence interval (CI) was calculated to determine the association between polymorphisms and haplotypes with melanoma susceptibility. Statistical and haplotype analyses were performed using Stata® and R-Studio®. Results. Fifty-four percent of women were identified both in cases and controls. The frequencies of melanoma subtypes were 36,47% lentigo maligna, 24,71% acral lentiginous, 23,53% superficial extension, and 15,29% nodular. Variants in the CDKN2A gene were 11.76% in cases and 8.43% in controls. The most frequent was p.A148T in 5.88% of cases and in 4.82% of controls. GGTTG haplotype showed statistically significant differences between cases and controls ( p value = 0.04). Conclusion. CDKN2A polymorphisms p.G101W, p.R24P, p.M53I, and A148T are not associated with melanoma susceptibility in the Colombian population; further studies regarding genetic interaction and additive effects between more variants are required.

Description: The COVID-19 pandemic poses an unprecedented challenge for urologic oncology and radiotherapy. Radiation oncology departments and international collaboration groups are sharing their management adaptations made in response to the pandemic. The present narrative review summarizes the current recommendations. Relevance:  There is a need to define which patients are candidates for safe treatment delay until the pandemic is over or controlled, to reduce exposure to the virus in the healthcare personnel and patients.   Conclusions:  Telemedicine is recommended for follow-up visits. Active surveillance is the preferred treatment for patients with favorable intermediate risk. In greater risk disease, hormone therapy safely postpones radiotherapy up to 7 months. Radiosurgery is suggested in centers that have the necessary technology and previous experience.  A moderately hypofractionated regimen is recommended if radiosurgery/ultra-hypofractionation is not available. Hypofractionation should be implemented if image-guided radiation therapy is already in place. Countries with low and middle-income economies face challenges in adopting the recommendations for prostate cancer management during the pandemic. Postponing treatment may result in the overwhelming of radiation oncology center capacity, after the pandemic.

Objectives Genetic association studies on alopecia areata (AA) performed in various populations have shown heterogeneous results. The aim of the current review was to synthesize the results of said studies to estimate the impact of FAS, FASL, PTPN22, CTLA4 and IL2RA gene polymorphisms on AA susceptibility. Design A systematic literature search was conducted in the Medline, Web of Science, Scopus, EMBASE and LILACS databases. Studies published up to June 2020 were included. The results available in the grey literature including the Open Grey and Google Scholar databases were also used. The texts of potentially related studies were screened by individual reviewers. Evidence of publication bias was assessed using the Newcastle-Ottawa scale and the quality of evidence was assessed using the GRADE system. The quantitative synthesis was performed using the fixed effect model. Results Out of 1784 articles, we identified 18 relevant articles for the qualitative synthesis and 16 for the quantitative synthesis. In a study of rs2476601 polymorphism of PTPN22 gene, including 1292 cases and 1832 controls, a correlation was found with the risk of developing AA in the allelic model (OR1.49 [95% C:1.13–1.95]), the heterozygous codominant (OR1.44 [95% CI:1:19–1.76]) and dominant model (OR1.43 [95% CI:1.18–1.73]). No association was found between the presence of FASL, PTPN22, CTLA and IL2RA gene polymorphisms with AA susceptibility. Conclusions The results suggest that the T allele of the single nucleoid polymorphism (SNP) rs2476601 in PTPN22 gene is a risk factor for developing alopecia areata. However, more robust studies defining the ethnic background of the population of origin are required, so that the risk identified in the present study can be validated. Additionally, a greater number of studies is necessary to evaluate the role of the FAS, FASL, PTPN22, CTLA4 and IL2RA genetic variants, given the heterogenous results found in the literature.

Background: A traumatic arteriovenous fistula of the scalp due to hair transplantation (AVFHT) is a rare fistulous communication between branches of the arteries and draining veins in the scalp’s subcutaneous tissue. Its incidence is unknown and its clinical manifestations may range from a pulsatile mass to seldom epilepsy. Surgery and interventional approaches (percutaneous and endovascular embolization) using coils and embolic agents such as Onyx have been used as treatment options. The authors report a rare case of an AVFHT successfully treated through percutaneous and endovascular embolization using coils and precipitating hydrophobic injectable liquid (PHIL) embolic agent. This is possibly the first reported case using PHIL embolic agent to treat an AVFHT. Case Description: The patient presented with a painful and disabling scalp swelling in the right parieto-occipital region 2 years after a hair transplant in 2011. A computed tomography angiography showed an arteriovenous fistula between branches of the right superficial temporal artery and branches of the right occipital artery to the right superficial temporal vein that was successfully embolized using coils and PHIL. The patient was discharged after a smooth recovery and 1 month later remained healthy. Conclusion: Percutaneous and endovascular embolization using PHIL embolic agent can be an alternative treatment for AVFHT.

Genetic association studies in rheumatoid arthritis conducted in various populations have yielded heterogeneous results. The present systematic review was conducted to synthesize the results of the studies in order to establish the impact of polymorphisms in the ficolin-coding genes FCN1, FCN2, and FCN3 on the susceptibility to develop rheumatoid arthritis. A systematic literature review was performed using the following keywords “gene (FCN1/FCN2/FCN3)”, “Polymorphism/Genetic Variant”, and “rheumatoid arthritis” in different databases until January 2022. Authors assessed articles by title/abstract and then assessed by full text for data extraction. The risk of bias was assessed using the Newcastle-Ottawa scale. Data synthesis was performed qualitatively and quantitatively. A total of 1519 articles were eligible for inclusion in this review, 3 were identified as relevant for the quantitative synthesis with 670 patients and 1019 controls. For the FCN1 gene, an association was found in the dominant and recessive genetic models of the variants rs2989727 (genotype TT = OR: 0.577, 95% CI: 0.430-0.769) and rs1071583 (genotype GG = OR: 1.537, 95% CI: 1.153-2.049, p = 0.0032 ) with the development of rheumatoid arthritis as a protective or susceptibility factor. FCN2 and FCN3 genes did not show association with disease development. The FCN1 gene variants rs2989727 and rs1071583 are associated with the risk of developing rheumatoid arthritis in populations from Brazil and Belgium, but not in FCN2 and FCN3 gene variants.