Exploring Genetic Interactions in Colombian Women with Polycystic Ovarian Syndrome: A Study on SNP-SNP Associations.

Polycystic ovary syndrome (PCOS) is an endocrine and metabolic disorder with high prevalence in women around the world. The identification of single-nucleotide polymorphisms (SNPs) through genome-wide association studies has classified it as a polygenic disease. Most studies have independently evaluated the contribution of each SNP to the risk of PCOS. Few studies have assessed the effect of epistasis among the identified SNPs. Therefore, this exploratory study aimed to evaluate the interaction of 27 SNPs identified as risk candidates and their contribution to the pathogenesis of PCOS. The study population included 49 control women and 49 women with PCOS with a normal BMI. Genotyping was carried out through the MassARRAY iPLEX single-nucleotide polymorphism typing platform. Using the multifactor dimensionality reduction (MDR) method, the interaction between SNPs was evaluated. The analysis showed that the best interaction model (p < 0.0001) was composed of three loci (rs11692782-FSHR, rs2268361-FSHR, and rs4784165-TOX3). Furthermore, a tendency towards synergy was evident between rs2268361 and the SNPs rs7371084-rs11692782-rs4784165, as well as a redundancy in rs7371084-rs11692782-rs4784165. This pilot study suggests that epistasis may influence PCOS pathophysiology. Large-scale analysis is needed to deepen our understanding of its impact on this complex syndrome affecting thousands of women.

Assessment of THADA gene polymorphisms in a sample of Colombian women with polycystic ovary syndrome: A pilot study.

Polycystic ovary syndrome (PCOS) is a multifactorial and polygenic endocrine-metabolic disorder in women of reproductive age. SNPs in the THADA gene have been identified as PCOS risk loci. In this study, we evaluated the frequency of five polymorphisms in a sample of Colombian women with PCOS, and their association with clinical and endocrine-metabolic parameters. Forty-nine women with PCOS and forty-nine healthy women were included. Allelic discrimination was performed in the THADA gene by iPLEX and the MassARRAY system (Agena Bioscience). Haploview software was conducted to analyze the linkage disequilibrium (LD) and haplotypes of polymorphisms. There was an association between the genotypes TT of rs12468394, CC + AA of rs12468394, and GG of rs6544661 and an increase in the levels of free testosterone. The CC + AA of rs12468394 genotype also was associated with an increase of androstenedione levels. THADA gene SNPs were not associated with PCOS risk. There was very strong LD among the SNPs. No significant differences in the frequency of haplotypes between groups were observed. The statistical power of this analysis is low because of the small number of samples analyzed. Additional studies involving large populations of Colombian women with PCOS are needed to verify the role of the THADA gene in this disorder.

Comportamiento clínico del parto vertical y en posición de litotomía en dos centros de salud de Cusco, Perú / Clinical behavior of vertical delivery and in lithotomy position in two Health Centers of Cusco, Peru

Resumen OBJETIVO: Comparar el comportamiento clínico del parto vertical con el horizontal en embarazadas atendidas en dos centros de salud de Cusco, Perú. MATERIALES Y MÉTODOS: Estudio descriptivo, comparativo y prospectivo con un componente correlacional efectuado en dos centros de salud de la ciudad de Cusco, Perú, del 1 de septiembre del 2020 al 31 de enero del 2021, en mujeres embarazadas que tuvieron parto vertical u horizontal. El cálculo del tamaño de muestra se estableció con el programa estadístico EPIDAT mediante la comparación de medias de grupos independientes. RESULTADOS: Se estudiaron 212 pacientes (106 en parto vertical y 106 en posición de litotomía). En las pacientes con parto horizontal se registraron 3 casos de activación de código rojo (1.42%) con sangrado máximo de 2500 cc. El grado de desgarro vaginal más frecuente fue 1, en 103 mujeres (48.58%). La involución uterina en los dos grupos, a las 6 h, fue de 13 cm en 80 mujeres (37.74%), a las 12 h de 12 cm en 83 mujeres (39.15%) y para las 24 h de 11 cm en 84 mujeres (39.62%). Las horas mínimas de trabajo de parto fueron 2.38 h en el grupo de parto vertical; el puntaje Apgar más bajo fue 7 al primer minuto (1.42%) y al minuto 5 (0.47%). CONCLUSIONES: El parto vertical puede ofrecer ventajas significativas en comparación con el horizontal en algunas variables: trabajo de parto más corto, Apgar al minuto e involución uterina. Para las demás variables estudiadas no se encontraron diferencias estadísticamente significativas.

Abstract OBJECTIVE: To compare the clinical behavior of vertical delivery and delivery in the lithotomy position in pregnant women attended in two health centers in Cusco, Peru. MATERIALS AND METHODS: Descriptive, comparative and prospective study with a correlational component carried out in two health centers in the city of Cusco, Peru, from September 1, 2020 to January 31, 2021 in pregnant women who delivered vertically or horizontally. The sample size was calculated using the EPIDAT statistical program by comparing the means of independent groups. RESULTS: 212 patients were studied (106 in vertical delivery and 106 in lithotomy position). In horizontal delivery patients there were 3 cases of code red activation (1.42%) with maximum bleeding of 2500 cc. The most frequent vaginal tear grade was 1, in 103 women (48.58%). Uterine involution in the two groups, at 6 h, was 13 cm in 80 women (37.74%), at 12 h 12 cm in 83 women (39.15%) and by 24 h 11 cm in 84 women (39.62%). Minimum labor hours were 2.38 h in the vertical delivery group; the lowest Apgar score was 7 at 1 min (1.42%) and at 5 min (0.47%). CONCLUSIONS: Vertical delivery may offer significant advantages compared to horizontal delivery in some variables: shorter labor, Apgar at minute and uterine involution. For the other variables studied, no statistically significant differences were found.

Adaptación transcultural y validación de un contenido del cuestionario Texas Textbook Evaluation Tool (T-TET) de evaluación de libros de texto para ciencias de la salud / Cross-Cultural Adaptation and Content Validation of Texas Textbook Evaluation Tool (T-TET) a Book Evaluation Questionnaire for Health Sciences / Adaptação transcultural e validação de um questionário para as ciências da saúde

Introducción: La actualización y evaluación de libros de texto es esencial en el proceso educativo; sin embargo, en idioma español no se encuentran instrumentos para evaluarlos en el área de ciencias de la salud. Objetivo: Llevar a cabo la adaptación transcultural y validación de contenido del instrumento Texas Textbook Eva-luation Tool. Método: Estudio descriptivo de corte transversal con componente psicométrico. Se realizó la adaptación transcul-tural con traducción directa, síntesis de traducciones, traducción inversa, consolidación de traducciones en juicio de expertos y aplicación de una prueba piloto. Todo ello seguido del análisis de fiabilidad interobservador y la consistencia interna a través del alfa ordinal y el análisis factorial confirmatorio.Resultados: Se modificó un ítem que obtuvo un 36,66% de discrepancia. Se obtuvo un alfa de Cronbach de 0,98 y una kappa de Cohen de 0,91. Las pruebas de esfericidad de Barlett y Kaiser-Meyer-Olkin dieron como resulta-do 0,00 y 0,93, respectivamente. Así, se obtuvo en el análisis factorial confirmatorio que todas las variables se agrupan en las seis dimensiones propuestas. Conclusiones: Se realizó una apropiada implementación de los métodos. Los resultados obtenidos destacan la confianza e idoneidad del instrumento. El instrumento presenta una excelente consistencia interna, y se comprobó que mide las dimensiones para las que fue diseñado.

Introduction: The updating and evaluation of textbooks is essential in the educational process, however, in the Spanish language there are no instruments to evaluate them in Health Sciences. Objective: To make a cross-cultural adaptation and content validation of the Texas Textbook Evaluation Tool. Method: Cross-sectional descriptive study with a psychometric component, cross-cultural adaptation is carried out with direct translation, translation synthesis, reverse translation, consolidation of trans-lations in expert judgment and pilot test application. Followed by inter-observer reliability analysis and internal consistency through ordinal alpha and confirmatory factor analysis. Results: One item was modified that obtained a 36% discrepancy. An ordinal alpha of 0.98 and Cohen's Kappa index of 0.91 were obtained. The Bartlett and Kaiser-Meyer-Olkin sphericity tests resul-ted in 0.00 and 0.93 respectively, obtaining in the confirmatory factorial analysis that all the variables are grouped in the 6 proposed dimensions. Conclusions: An appropriate implementation of the methods, the results obtained highlight the con-fidence and suitability of the instrument. The instrument has excellent internal consistency, and it was verified that it measures the dimensions for which it was designed.

Introdução: A atualização dos livros de texto é essencial no processo educacional em Ciências da Saúde, mas no idioma espanhol não há instrumentos para sua avaliação. Objetivo: Adaptação transcultural e validação do instrumento Texas Textbook Evaluation Tool. Método: A tradução, retrotradução, teste piloto, confiabilidade, consistência interna e análise de fatores exploratórios foram abrangidos. Resultados: Um item foi modificado com uma discrepância de 36,66%. Foi obtido um coeficiente alfa de Cronbach de 0,98 e o índice Kappa de Cohen de 0,91. Os testes de esfericidade de Barlett e Kaiser-Meyer-Olkin resultaram em 0,00 e 0,93 respetivamente. Conclusões: Os métodos foram implementados adequadamente, e os resultados obtidos destacam a confiança e adequação do instrumento

Normal-Weight Obesity Is Associated with Poorer Cardiometabolic Profile and Lower Physical Fitness Levels in Children and Adolescents.

Normal-weight obesity (NWO) syndrome has been shown to be associated with cardiometabolic dysfunction. However, little is known regarding this potential relationship in Latin American children and adolescents. The aim of this study was two-fold: (i) to investigate whether Colombian youth with NWO syndrome have a poorer cardiometabolic profile and physical fitness performance than normal-weight lean (NWL) peers; and (ii) to determine if physical fitness levels are related to prevalence of normal-weight obesity in youth. This was an analytical cross-sectional study of 1919 youths (9-179 years old, 53.0% girls) in the capital area of Colombia. NWO was defined as a body mass index < 25 kg/m2 and a validated body fat percentage above the sex-age-specific 90th percentile for Colombian children and adolescents. Body fat was estimated using bioelectrical impedance analysis, cardiorespiratory fitness (CRF) was estimated using the 20-meter shuttle run test, and muscular fitness with the handgrip test. Biochemical profile blood samples were collected for cardiometabolic risk factors. After adjusting for chronological age, pubertal stage, and Mediterranean diet adherence, the NWO group (boys and girls) had significantly higher values for cardiometabolic risk factors, and waist circumference (WC) than the NWL group. The prevalence of NWO was lower in youth classified with healthy CRF (boys, odds ratio (OR) = 0.54, 95% confidence interval (CI) 0.37 to 0.78; girls, OR = 0.35, 95% CI 0.24 to 0.50), p < 0.001. Our findings indicate that using only body mass index for the assessment of cardiometabolic risk likely misrepresents true adiposity and suggest the need to include the assessment of body fat in the routine clinical evaluation of individuals during childhood and adolescence.

Paget's disease of the breast without associated ductal carcinoma: case report and review of the literature / Enfermedad de Paget de la mama sin carcinoma ductal asociado: reporte de caso y revisión de la literatura

Objective: To present one case of Paget's disease (PD) of the breast without associated ductal carcinoma, and to conduct a review of the literature on its diagnosis and treatment. Materials and methods: 59-year-old woman with a two-year history of a chronic erythematous, ulcerated, itchy lesion in the left nipple, initially treated dermatologically with topical steroids with no improvement, finally visits a primary healthcare institution in the city of Tunja, Colombia for diagnosis. A biopsy and histochemical testing were performed to make the diagnosis and the lesion was then treated with central quadrantectomy. The post-operative pathology testing was negative for malignancy, without recurrence at one-year follow-up. A search was conducted in the PubMed, SciELO, ProQuest, ScienceDirect and Google Scholar databases using the terms "Paget´s Disease," "Breast Neoplasms," "Mammography," "Ultrasonography," Mammary," "Biopsy," and "Mastectomy," tracking bibliographic review articles, editorials, reports and clinical case series in English and Spanish, without time limitation. Results: Overall, 11 publications were included consisting of 5 case reports, 3 case series, 1 review of the literature based on a clinical case, and 2 letters to the editor describing cases related to Paget's disease of the nipple with no associated carcinoma. The diagnosis was based on the clinical suspicion of the disease and a biopsy of the lesion. Histochemistry was useful for the differential diagnosis: treatment options ranged from mastectomy to nipple-areolar complex resection. Radiotherapy has also been used. Conclusions: The diagnosis of Paget's disease with no associated ductal carcinoma is based on early clinical suspicion and histopathology of the nipple- areolar complex. There is no consensus regarding surgical management of this lesion. Follow-up studies of this subgroup of patients treated with radiotherapy or conservative surgery are required.

TITULO: ENFERMEDAD DE PAGET DE LA MAMA, SIN CARCINOMA DUCTAL ASOCIADO: REPORTE DE CASO Y REVISIÓN DE LA LITERATURA. Objetivo: Presentar un caso de enfermedad de Paget (EP) de la mama, sin carcinoma ductal asociado, y realizar una revisión de literatura respecto a su diagnóstico y tratamiento. Materiales y métodos: Mujer de 59 años, con lesión pruriginosa, eritematosa y ulcerada crónica, en pezón izquierdo, de 2 años de evolución, quien recibió inicialmente manejo dermatológico con corticoides tópicos sin mejoría clínica, que acude finalmente a una institución de atención primaria en Tunja (Colombia) para su diagnóstico, el cual se realizó por biopsia mediante inmunohistoquímica y posterior manejo por cuadrantectomía central con patología posquirúrgica negativa para malignidad, sin recurrencia al año de seguimiento. Se realizó una búsqueda en las bases de datos Medline vía PubMed, SciELO, ProQuest, ScienceDirect y Google Académico con los términos "Paget´s Disease", "Breast Neoplasms", "Mammography" "Ultraso- nography Mammary", "Biopsy" y "Mastectomy", rastreando artículos de revisión bibliográfica, editoriales, reportes y series de casos clínicos en inglés y español, sin límite de tiempo. Resultados: Se incluyeron 11 publicaciones correspondientes a 5 reportes de caso, 3 series de casos, 1 revisión de la literatura a partir de un caso clínico, y 2 cartas al editor que describieron casos relacionados con enfermedad de Paget del pezón sin carcinoma asociado. El diagnóstico se funda- mentó en la sospecha clínica de la enfermedad con la posterior realización de biopsia de la lesión; la inmunohistoquímica fue útil en el diagnóstico diferencial. El tratamiento varió desde mastectomía hasta resección de complejo areola-pezón. La radioterapia también ha sido utilizada. Conclusiones: El diagnóstico de la enfermedad de Paget sin carcinoma ductal asociado se fundamenta en una sospecha clínica temprana y en el estudio histopatológico del complejo areola-pezón. No hay consenso sobre el manejo quirúrgico de esta lesión. Se requieren estudios de seguimiento de este subgrupo de pacientes tratado con radioterapia o cirugía conservadora.

Paget's disease of the breast without associated ductal carinoma: Case report and review of the literature / Enfermedad de paget de la mama, sin carcinoma ductal asociado: reporte de caso y revisión de la literatura

RESUMEN Objetivo: presentar un caso de enfermedad de Paget (EP) de la mama, sin carcinoma ductal asociado, y realizar una revisión de literatura respecto a su diagnóstico y tratamiento. Materiales y métodos: mujer de 59 años, con lesión pruriginosa, eritematosa y ulcerada crónica, en pezón izquierdo, de 2 años de evolución, quien recibió inicialmente manejo dermatológico con corticoides tópicos sin mejoría clínica, que acude finalmente a una institución de atención primaria en Tunja (Colombia) para su diagnóstico, el cual se realizó por biopsia mediante inmunohistoquímica y posterior manejo por cuadrantectomía central con patología posquirúrgica negativa para malignidad, sin recurrencia al año de seguimiento. Se realizó una búsqueda en las bases de datos Medline vía PubMed, SciELO, ProQuest, ScienceDirect y Google Académico con los términos "Paget´s Disease", "Breast Neoplasms", "Mammography" "Ultrasonography Mammary", "Biopsy" y "Mastectomy", rastreando artículos de revisión bibliográfica, editoriales, reportes y series de casos clínicos en inglés y español, sin límite de tiempo. Resultados: se incluyeron 11 publicaciones correspondientes a 5 reportes de caso, 3 series de casos, 1 revisión de la literatura a partir de un caso clínico, y 2 cartas al editor que describieron casos relacionados con enfermedad de Paget del pezón sin carcinoma asociado. El diagnóstico se fundamentó en la sospecha clínica de la enfermedad con la posterior realización de biopsia de la lesión; la inmunohistoquímica fue útil en el diagnóstico diferencial. El tratamiento varió desde mastectomía hasta resección de complejo areola-pezón. La radioterapia también ha sido utilizada. Conclusiones: el diagnóstico de la enfermedad de Paget sin carcinoma ductal asociado se fundamenta en una sospecha clínica temprana y en el estudio histopatológico del complejo areola-pezón. No hay consenso sobre el manejo quirúrgico de esta lesión. Se requieren estudios de seguimiento de este subgrupo de pacientes tratado con radioterapia o cirugía conservadora.

ABSTRACT Objective: To present one case of Paget's disease (PD) of the breast without associated ductal carcinoma, and to conduct a review of the literature on its diagnosis and treatment. Materials and methods: A 59-year-old woman with a two-year history of a chronic erythematous, ulcerated, itchy lesion in the left nipple, initially treated dermatologically with topical steroids with no improvement, finally visits a primary healthcare institution in the city of Tunja, Colombia for diagnosis. A biopsy and histochemical testing were performed to make the diagnosis and the lesion was then treated with central quadrantectomy. The post-operative pathology testing was negative for malignancy, without recurrence at one-year follow-up. A search was conducted in the PubMed, SciELO, ProQuest, ScienceDirect and Google Scholar databases using the terms "Paget´s Disease," "Breast Neoplasms," "Mammography," "Ultrasonography," Mammary," "Biopsy," and "Mastectomy," tracking bibliographic review articles, editorials, reports and clinical case series in English and Spanish, without time limitation. Results: Overall, 11 publications were included consisting of 5 case reports, 3 case series, 1 review of the literature based on a clinical case, and 2 letters to the editor describing cases related to Paget's disease of the nipple with no associated carcinoma. The diagnosis was based on the clinical suspicion of the disease and a biopsy of the lesion. Histochemistry was useful for the differential diagnosis: treatment options ranged from mastectomy to nipple-areolar complex resection. Radiotherapy has also been used. Conclusions: The diagnosis of Paget's disease with no associated ductal carcinoma is based on early clinical suspicion and histopathology of the nipple-areolar complex. There is no consensus regarding surgical management of this lesion. Follow-up studies of this subgroup of patients treated with radiotherapy or conservative surgery are required.

Mapeo del lenguaje utilizando estimulación magnética transcraneal repetitiva por navegación: un estudio comparativo con la estimulación cortical directa intraoperatoria / Language mapping using repetitive transcranial magnetic stimulation by navigation: a comparative study with direct intraoperative cortical stimulation

Introducción: la estimulación cortical directa (DCS) es una metodología corrientemente usada para localizar áreas del lenguaje en intervenciones quirúrgicas que incluyan resecciones.La estimulación magnética transcraneana repetitiva (rTMS) a demostrado también su capacidad para inducir alteraciones transitorias. Recientemente el desarrollo del Sistema de Navegación de TMS asegura precisa localización del sitio estimulado. El objetivo del trabajo es estudiar la confiabilidad de la estimulación magnética transcraneal repetitiva navegada (nrTMS) en la localización de los sitios del lenguaje. Métodos: Once pacientes seleccionados para mapeo del lenguaje por DCS fueron evaluados pre-cirugía con nrTMS. Los mapeos de lenguaje prequirúrgicos mediante nrTMS fueron comparados con DCS. Resultados: Un total de 25 nrTMS sitios del lenguaje y 38 DCS fueron localizados. La sensibilidad y la especificidad obtenida fue de 88.4 y 95.6, respectivamente. La distancia media fue evaluada en 4,5mm. Conclusiones: Los dispositivos de nrTMS permiten la identificación de las áreas corticales del lenguaje. Con un alto grado de concordancia con el mapeo TMS. La nrTMS se muestra como una herramienta de interés en la investigación y aplicación práctica en la función del lenguaje.

Introduction: direct cortical stimulation (DCS) is currently used to localise language areas in surgical resections. Repetitive transcranial magnetic stimulation (rTMS) has also shown its capacity to induce transient language alterations. Newly developed Navigated Brain Systems of TMS ensure precise topographical localisation of the stimulated site. The objective was to study the reliability of navigated repetitive transcranial magnetic stimulation (nrTMS) in language sites localisation.Methods: Eleven patients selected for DCS language mapping were presurgically evaluated with nrTMS. These presurgicalnrTMS language maps were then compared with DCS.Results: A total number of 25 nrTMS and 38 DCS language sites were localised. Sensitivity and specificity were calculated as 88.4 and 95.6 respectively. Mean distance was assessed as 4.5 millimetres. Conclusions: nrTMS devices allow identification of cortical language areas, with a high degree of concordance to TMS mapping. NrTMS shows up as an interesting tool for research and practical application in language function.

Trauma mamario por mordedura de caballo: Reporte de caso / Breast injury due to horse bite: Case report

Objetivo: presentar un caso de trauma mamario por mordedura de caballo en una mujer y revisar el manejo de este tipo de accidentes. Materiales y métodos: se presenta un caso de trauma mamario izquierdo por mordedura de equino, de 10 días de evolución, en una mujer de 43 años de edad atendida en una institución de primer nivel de complejidad, posteriormente remitida para estudio imaginológico y manejo a una institución de tercer nivel de complejidad. Se realizó una búsqueda de la información en las bases de datos SciELO y PubMed con la terminología MeSH “Bite horsebreast trauma”, y en español “trauma mamario por mordedura de equino”. Conclusiones: los traumatismos mamarios por mordedura de caballo son infrecuentes y pueden acompañarse de lesiones que van desde laceraciones, equimosis, hematomas, amputación de la glándula mamaria y complicaciones sistémicas de tipo infeccioso, así como secuelas severas de tipo funcional y estético. Es indispensable adoptar medidas preventivas generales y manejar secuencialmente el caso como se recomienda en el presente reporte.

Objective: To present a case of female breast trauma due to horse bite and review the management of this type of injury. Materials and methods: Case presentation of left beast injury caused by horse bite in a 43 year-old woman who came to a first level institution 10 days after the accident, and was then referred for imaging studies and management to a level 3 complexity institution. A search was conducted in the SciELO and PubMed databases using MeSH terms “Bite horse breast Trauma” in English and “mammary trauma due to equine bite” in Spanish. Conclusions: Breast injury due to horse bite is infrequent and may be accompanied by lesions ranging from lacerations to bruising, hematomas, mammary gland amputation and infectious systemic complications, as well as severe functional and cosmetic sequelae. It is of the utmost importance to adopt general preventive measures and treat the case sequentially as recommended in this report.