Traumatic scalp arteriovenous fistula post capillary implantation successfully treated using PHIL embolic agent.

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.

Effect of Polymorphisms in the FCN1, FCN2, and FCN3 Genes on the Susceptibility to Develop Rheumatoid Arthritis: A Systematic Review.

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.

Characteristics Upon Presentation of Patients with Type 2 Macular Telangiectasia in Puerto Rico.

OBJECTIVE: To describe the systemic disease associations and clinical features upon initial presentation of a cohort of patients with type 2 macular telangiectasia who live in Puerto Rico. METHODS: A retrospective review of patients with macular telangiectasia was performed in 4 private retina practices in Puerto Rico. The demographic and clinical characteristics were recorded. RESULTS: Twenty-one patients who were diagnosed with macular telangiectasia were included in the analysis. The median age of presentation was 62 years; 86% were female, and all patients were Hispanics. The median visual acuity at presentation was 20/50. A prior medical diagnosis of type II diabetes mellitus was found in 15 (71.4%) patients, essential hypertension in 12 (57.1%), and dyslipidemia in 9 (42.9%). All patients had bilateral disease. The most common ocular findings were the presence of right-angle vessels in 32 (76.2%) eyes and angiographic hyperfluorescence temporal to the fovea, found in 22 (52.4%) of the affected eyes. One eye had evidence of choroidal neovascularization. CONCLUSION: Our cohort showed a higher prevalence of type 2 diabetes in patients with type 2 macular telangiectasia than in other cohorts. It also supports the findings of other studies showing that macular telangiectasia patients are more likely to have type 2 diabetes and hyperlipidemia. However, the increased prevalence of diabetes and hyperlipidemia may be due to selection bias, and further studies are needed to assess the significance of these findings.

Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.

Congenital long QT syndrome (LQTS) is a cardiac channelopathy characterized by a prolongation of the QT interval and T-wave abnormalities, caused, in most cases, by mutations in KCNQ1, KCNH2, and SCN5A. Although the predominant pattern of LQTS inheritance is autosomal dominant, compound heterozygous mutations in genes encoding potassium channels have been reported, often with early disease onset and more severe phenotypes. Since the molecular mechanisms underlying severe phenotypes in carriers of compound heterozygous mutations are unknown, it is possible that these compound mutations lead to synergistic or additive alterations to channel structure and function. In this study, all-atom molecular dynamic simulations of KCNQ1 and hERG channels were carried out, including wild-type and channels with compound mutations found in two patients with severe LQTS phenotypes and limited family history of the disease. Because channels can likely incorporate different subunit combinations from different alleles, there are multiple possible configurations of ion channels in LQTS patients. This analysis allowed us to establish the structural impact of different configurations of mutant channels in the activated/open state. Our data suggest that channels with these mutations show moderate changes in folding energy (in most cases of stabilizing character) and changes in channel mobility and volume, differentiating them from each other and from WT. This would indicate possible alterations in K+ ion flow. Hetero-tetrameric mutant channels showed intermediate structural and volume alterations vis-à-vis homo-tetrameric channels. These findings support the hypothesis that hetero-tetrameric channels in patients with compound heterozygous mutations do not necessarily lead to synergistic structural alterations.

Características del melanoma cutáneo en dos instituciones de Bogotá, Colombia: Análisis 2012-2016 / Characteristic features of cutaneousmelanoma in two institutions of Bogotá, Colombia: Analysis, 2012-2016

Resumen Introducción: El Melanoma es una neoplasia que se origina de los melanocitos. Este tumor, a pesar de representar solo el 5% de las neoplasias cutáneas, es el responsable del 70% de las muertes producidas por cáncer de piel. En Colombia se ha registrado una supervivencia del 79% a 5 años y en el caso particular del melanoma lentiginoso acral, de tan solo 54%. No obstante, los datos nacionales no son claros, por lo cual es necesario caracterizar a los pacientes con dicho diagnóstico para contribuir con futuros estudios. Metodología: Estudio de corte transversal en el cual se incluyeron y analizaron registros clínicos, demográficos e histopatológicos de pacientes con diagnóstico de melanoma cutáneo atendidos en dos instituciones dermatológicas de Bogotá, Colombia, durante los años 2012-2016. Resultados: Se incluyeron un total de 255 pacientes, la mayoría mujeres (61.0%). Se observó un aumento de 22 a 64 casos diagnosticados en los años 2012 y 2016 respectivamente. El subtipo histológico más frecuente fue el lentigo maligno (33.7%) seguido del melanoma lentiginoso acral (16.1%). La principal localización fue la cara (43.1%). El tiempo entre la detección y la confirmación del diagnóstico por biopsia fue de 17 meses. El 20% de los casos correspondió con un índice de Breslow <1 y el 42.4% de los casos un Clark de I. Conclusiones: Se observó un aumento en el número de casos nuevos de melanoma cutáneo entre los años 2012 y 2016, siendo los subtipos más frecuentemente diagnosticados el lentigo maligno y el melanoma lentiginoso acral. Los tiempos promedio de diagnóstico fueron prolongados.

Abstract Introduction: Melanoma is a cutaneous neoplasm originating from melanocytes. This tumor, despite representing only 5% of skin neoplasms, is responsible for 70% of deaths caused by skin cancer. In Colombia, a mortality of 0.5/100,000 inhabitants has been reported with a survival rate of 79% at 5 years, but in the case of acral lentiginous melanoma, survival is only 54%. However, national data are not clear, which highlights the need to characterize patients with this diagnosis to contribute to further epidemiological studies. Methodology: Cross-sectional study of the clinical, demographic, and histopathological records of patients with diagnosis of cutaneous melanoma, who were attended in two dermatological centers of Bogotá, Colombia, during 2012-2016. Results: A total of 255 patients were included, most of them women (61.0%). An increase from 22 to 64 diagnosed cases was observed from 2012 to 2016, respectively. The most frequent histological subtype was lentigo maligna (33.7%), followed by lentiginous acral melanoma (16.1%). The main location was face (43.1%). The time between detection and confirmation of diagnosis by biopsy was 17 months. 20% of the cases had a Breslow index <1 and 42.4% of the cases were Clark's level I. Conclusions: There was an increase in the number of new cases of cutaneous melanoma between 2012 and 2016, the most frequently diagnosed subtypes being lentigo maligna and acral lentiginous melanoma. The average time of diagnosis was prolonged.

Melanoma Lentiginoso Acral Revisión Narrativa de uno de los Melanomas más Frecuentes en América Latina / Acral lentiginous melanoma: Review of one of the most frequent melanomas in Latin America

Resumen El melanoma es el cáncer de piel con mayor tasa de mortalidad a nivel mundial. Se han descrito 4 subtipos principales de melanoma cutáneo: el melanoma de extensión superficial, el melanoma nodular, el léntigo maligno y el melanoma lentiginoso acral. Existen diferencias raciales y geográficas en la distribución y frecuencia de estos subtipos. En caucásicos, el riesgo es mayor para melanomas de piel expuesta a radiación UV, ya sea de forma crónica o intermitente. En contraste, en asiáticos, afroamericanos e hispanos, la tendencia es mayor en sitios anatómicos no expuestos (palmas y plantas), encabezando el melanoma lentiginoso acral en una proporción mayor. Usualmente, este melanoma se diagnostica de manera tardía y en estadios avanzados, por cual se asocia con un peor pronóstico. La presente revisión pretende brindar una visión general sobre el conocimiento del melanoma lentiginoso acral, describiendo aspectos como la epidemiología, los factores de riesgo asociados, las características genéticas y los factores pronósticos.

Abstract Melanoma is the cutaneous cancer with the highest mortality worldwide. Four main subtypes of cutaneous melanoma have been described: superficial spreading melanoma, nodular melanoma, lentigo maligna melanoma, and acral lentiginous melanoma. There are racial and geographical differences in the distribution and frequency of these subtypes. In Caucasians, the risk is higher to develop melanoma on skin exposed to UV radiation, either chronically or intermittently. In contrast, in Asians, African Americans, and Hispanics, there is a greater tendency towards unexposed anatomical sites (palms and soles), which is called acral lentiginous melanoma. This melanoma is usually diagnosed in advanced stages, and therefore has a worse prognosis. This review aims to provide an update on what is known about acral lentiginous melanoma, mainly describing its epidemiology, risk factors associated with genetic characteristics, and prognosis.

3'UTR-CDKN2A and CDK4 Germline Variants Are Associated With Susceptibility to Cutaneous Melanoma.

BACKGROUND/AIM: Genetic variations of the CDKN2A and CDK4 gene have been associated to melanoma development. In the present study we investigated the potential associations of CDKN2A and CDK4 gene variants in a colombian population diagnosed with melanoma. MATERIALS AND METHODS: DNA was extracted from whole blood samples from 85 patients diagnosed with cutaneous melanoma and 166 healthy controls. CDKN2A and CDK4 genes were genotyped using a high-resolution melting assay. RESULTS: A similar distribution of CDKN2A variants 500C>G and 540C>T was found among cases (12% and 31% respectively) and controls (15% and 31% respectively). The CDKN2A variants were present in 36% of acral lentiginous melanoma and 39.47% of lentigo maligna. The haplotype analysis showed an association with susceptibility in the development of melanoma. CONCLUSION: The presence of haplotype 500G/540C in males is associated with an increased risk of melanoma in a colombian population, especially in subjects with a family history of cancer.

CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study.

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.