Niveles de vitamina D en dermatólogos y residentes de dermatología de diferentes regiones de Colombia: un estudio piloto / Vitamin D Levels in Dermatologists and Residents of Dermatology in Different Areas of Colombia: a Pilot Study

Introducción: La deficiencia de vitamina D es considerada una pandemia. En la actualidad existen numerosas publicaciones que documentan esta deficiencia en pacientes con osteopenia y/o osteoporosis; sin embargo, no hay estudios en Colombia ni en Latinoamérica que evalúen la deficiencia e insuficiencia de vitamina D en población sana, ni en dermatólogos, quienes pueden ser susceptibles de adquirir esta deficiencia por las largas jornadas laborales y la falta de exposición solar. Objetivo: Determinar la prevalencia de deficiencia de vitamina D en dermatólogos y residentes de dermatología en Colombia, y establecer sí la región de origen estaba asociada a niveles de vitamina D. Metodología: estudio tipo piloto, observacional, analítico de corte transversal, en el cual se incluyeron dermatólogos y residentes de dermatología asistentes al congreso Colombiano de dermatología 2016. A todos los participantes se les aplicó un cuestionario, se practicó examen físico y se midió niveles de 25 hidroxi vitamina D3. Resultados: 100 participantes fueron incluidos en el estudio: la edad media fue 39 años, el 67 % eran mujeres, con prevalencia de insuficiencia o deficiencia de vitamina D del 96% y concentración media de vitamina D de 18.20 ng/ml. Conclusiones: La deficiencia de vitamina D es altamente prevalente en dermatólogos y residentes de dermatología en Colombia, se sugieren intervenciones preventivas en esta población, debido a la alta morbimortalidad relacionada con tal deficiencia...(AU)

Introduction: Vitamin D deficiency is considered as a pandemic. Now, there are lots of publications documenting this deficiency in patients with osteopenia and / or osteoporosis; however, there are no studies either in Colombia or Latin America that evaluate vitamin D deficiency and insufficiency in a healthy population, or in dermatologists, who can be susceptible to acquire this deficiency by the long working hours and the lack of sun exposure. Objective: To determine the prevalence of vitamin D deficiency in dermatologists and residents of dermatology in Colombia and to establish if the area of origin was associated with vitamin D levels. Methodology: This is a pilot, observational, cross-sectional and analytical study in which dermatologists and dermatology residents attending to the 2016 Colombian Congress of Dermatology were included. All participants were given a questionnaire; a physical exam was performed to them and their levels of 25-hydroxyvitamin D3 were measured as well. Results: 100 participants were included in this study: their average age was 39 years; 67% of them were women, with a prevalence of vitamin D deficiency or insufficiency of 96% and with a mean of vitamin D concentration of 18.20 ng/ml. Conclusions: Vitamin D deficiency is highly prevalent in dermatologists and residents of dermatology in Colombia. With this population, some preventive interventions are suggested due to the high morbimortality related to such deficiency...(AU)

Introdução: a deficiência de vitamina D é considerada uma pandemia. Existem agora inúmeras publicações documentando essa deficiência em pacientes com osteopenia e / ou osteoporose; no entanto, não há estudos na Colômbia ou na América Latina que avaliem a deficiência e insuficiência de vitamina D na população saudável, nem em dermatologistas, que podem ser suscetíveis de adquirir essa deficiência devido aos longos dias de trabalho e falta de exposição solar. Objetivo: Determinar a prevalência de deficiência de vitamina D em dermatologistas e residentes de dermatologia na Colômbia e determinar se a região de origem estava associada a níveis de vitamina D. Metodologia: estudo piloto, observacional, transversal, analítico em que dermatologistas e residentes de dermatologia presentes no Congresso Colombiano de Dermatologia 2016 foram incluídos. Todos os participantes receberam um questionário, exame físico e níveis de 25 hidroxi vitamina D3. Metodologia: estudo piloto, observacional, transversal, analítico em que dermatologistas e residentes de dermatologia presentes no Congresso Colombiano de Dermatologia 2016 foram incluídos. Todos os participantes receberam um questionário, exame físico e níveis de 25 hidroxi vitamina D3. Resultados: 100 participantes foram incluídos no estudo: idade média foi de 39 anos, 67% eram mulheres, com prevalência de deficiência de vitamina D ou insuficiência de 96% e concentração média de vitamina D de 18.20 ng/ml. Conclusões: A deficiência de vitamina D é altamente prevalente em dermatologistas e residentes de dermatologia na Colômbia. As intervenções preventivas nesta população, são sugeridas por causa da alta morbidade e mortalidade associada a esta deficiência...(AU)

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (XPA through XPG and XPV). The XP-V (variant) subtype of the disease results from mutations in a gene (XPV, also named POLH) which encodes for Polη, a member of the Y-DNA polymerase family. Although the presence and severity of skin and neurological dysfunctions differ between XP subtypes, there are overlapping clinical features among subtypes such that the sub-type cannot be deduced from the clinical features. In this study, in order to overcome this drawback, we undertook whole-exome sequencing in two XP sibs and their father. We identified a novel homozygous nonsense mutation (c.897T>G, p.Y299X) in POLH which causes the disease. Our results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology.

Evaluación clínica del pelo corporal en una población de mujeres colombianas: determinación del punto de corte para el diagnóstico de hirsutismo

Introducción. El hirsutismo es una entidad médica definida como el crecimiento excesivo del pelo corporal en mujeres, con un patrón de distribución masculino. Para su evaluación se emplea una escala análoga visual diseñada por Ferriman y Gallwey en el Reino Unido en 1961, posteriormente modificada por Hatch. En esta escala se consideran nueve áreas corporales y se obtiene un valor global mínimo de 0 y un máximo de 36. Se ha establecido que un puntaje superior a 8 hace diagnóstico de hirsutismo en mujeres europeas; sin embargo, se recomienda que el diagnóstico de hirsutismo sea individualizado según la población en estudio. Objetivo. Determinar el punto de corte más apropiado para el diagnóstico de hirsutismo en una población colombiana, mediante la aplicación de la escala de Ferriman-Gallwey modificada. Materiales y métodos. Se aplicó de forma aleatoria la escala de Ferriman-Gallwey modificada a 323 mujeres santandereanas sin factores de riesgo para hirsutismo, entre los 18 y 50 años. Resultados. Se obtuvieron puntajes entre 0 y 9 en la escala de Ferriman, el 53,5 % de las mujeres presentaron un valor en la escala de Ferriman-Gallwey modificada total entre 0 y 1 puntos. En el 96 % de las examinadas se evidenció un puntaje de Ferriman-Gallwey modificado menor o igual a 6. Conclusión. Se sugiere un valor mayor o igual a 6 como punto de corte para el diagnóstico de hirsutismo en la región.

Clinical assessment of body hair in Colombian women: determining the cutoff score that defines hirsutism.

Introduction: Hirsutism is a medical entity defined as the excessive growth of body hair in women with a male distribution pattern. For evaluation it is used a visual analog scale designed by Ferriman and Gallwey in the United Kingdom in 1961, subsequently modified by Hatch. This scale consists of nine body areas, obtaining a minimum total value of 0 and a maximum of 36. It has been established a value greater than 8 points for diagnosis of hirsutism in European women, but it is recommended that the diagnosis of hirsutism should be individualized according to the study population. Objective: To determine the most appropriate cutoff point for the diagnosis of hirsutism in a Colombian population by applying the Ferriman-Gallwey Modified scale. Materials and methods: A random scale was applied to 323 women from Santander, between the ages of 18 and 50, and without risk factors for hirsutism. Results: It was obtained a score between 0 and 9 in the Ferriman-Gallwey modified scale, and 53.5% of the women had an overall score between 0 and 1 points. The 96% of those examined evidenced a Ferriman-Gallwey score modified less or equal to 6. Conclusion: It is suggest a value less than or equal to 6 as the cutoff point for the diagnosis of hirsutism in our region.

[Clinical assessment of body hair in Colombian women: determining the cutoff score that defines hirsutism]. / Evaluación clínica del pelo corporal en una población de mujeres colombianas: determinación del punto de corte para el diagnóstico de hirsutismo.

INTRODUCTION: Hirsutism is a medical entity defined as the excessive growth of body hair in women with a male distribution pattern. For evaluation it is used a visual analog scale designed by Ferriman and Gallwey in the United Kingdom in 1961, subsequently modified by Hatch. This scale consists of nine body areas, obtaining a minimum total value of 0 and a maximum of 36. It has been established a value greater than 8 points for diagnosis of hirsutism in European women, but it is recommended that the diagnosis of hirsutism should be individualized according to the study population. OBJECTIVE: To determine the most appropriate cutoff point for the diagnosis of hirsutism in a Colombian population by applying the Ferriman-Gallwey Modified scale. MATERIALS AND METHODS: A random scale was applied to 323 women from Santander, between the ages of 18 and 50, and without risk factors for hirsutism. RESULTS: It was obtained a score between 0 and 9 in the Ferriman-Gallwey modified scale, and 53.5% of the women had an overall score between 0 and 1 points. The 96% of those examined evidenced a Ferriman-Gallwey score modified less or equal to 6. CONCLUSION: It is suggest a value less than or equal to 6 as the cutoff point for the diagnosis of hirsutism in our region.