Criterios para la identificación de síndromes de cáncer de mama hereditarios. Revisión de la literatura y recomendaciones para el Instituto Nacional de Cancerología - Colombia / Criteria for the identification of hereditary breast cancer syndromes. Review of the literature and recommendations for the Instituto Nacional de Cancerología - Colombia

Introducción. Los síndromes de cáncer de mama hereditario (SCMH) corresponden a un 5% a 10% de todos los casos de la enfermedad, en su mayoría explicados por mutaciones en los genes BRCA1 y BRCA2. Se han publicado múltiples guías y recomendaciones internacionales actualizadas, con el fin de dar lineamientos para seleccionar los casos con sospecha de un SCMH. Como antecedentes locales, el Instituto Nacional de Cancerología de Colombia cuenta con un "Programa institucional para la identificación y manejo de familias con sospecha de cáncer hereditario", con fines asistenciales, dentro del cual el cáncer de mama es la patología más remitida al servicio de genética (55%; 540/986). En el 21% de los casos con cáncer de mama que cumplieron criterios NCCN se diagnosticó un SCMH, la mayoría asociados a mutaciones en los genes BRCA1 y BRCA2 (12,3%) y en menor proporción a otros genes de susceptibilidad al cáncer de mama (8,6%).Objetivo. Identificar los criterios de selección más implementados para diagnosticar los casos de cáncer de mama hereditarios a través de una revisión de la literatura, y realizar un consenso Institucional sobre las indicaciones de remisión a consejería genética y solicitud de pruebas para fines diagnósticos y de tratamiento sistémico con iPARP. Materiales y métodos. Se realizó una revisión narrativa de la literatura científica publicada en los últimos 10 años, al 30 de agosto del 2021, sobre la prevalencia de mutaciones germinales en los genes BRCA1 y BRCA2, y en otros genes no BRCA, en pacientes con cáncer de mama, obteniéndose en total 146 y seleccionándose un total de 41 artículos. En el interior de las unidades funcionales de mama y tejidos blandos, genética y oncología clínica, se presentó la evidencia disponible, realizando una discusión amplia entre las tres unidades y finalmente se definieron las indicaciones para remisión a genética, para solicitar estudios genéticos y de tratamiento sistémico con iPARP.Resultados. Según lo reportado en la literatura, los principales criterios de sospecha de un SCMH deben incluir: el subtipo triple negativo, la presentación bilateral, la edad muy temprana de diagnóstico y los antecedentes familiares (AF) de cáncer de mama antes de los 50 años o cáncer de ovario a cualquier edad.Conclusiones. Se adoptan las recomendaciones de la NCCN para la remisión a consejería genética y solicitud de estudios genéticos para identificar cáncer de mama hereditario, y se establecen los criterios del estudio OlympiA para la solicitud de estudios genéticos con el fin de guiar el tratamiento sistémico con iPARP en el Instituto Nacional de Cancerología. Lo anterior permitirá que desde nuestra Institución se ofrezca adecuadamente este servicio a la población colombiana.

ntroduction: Hereditary breast and ovarian cancer syndromes (HBOC) represents 5% to 10% of all breast cancer cases, and BRCA1andBRCA2 explain most of these syndromes. Multiple guidelines and updated recommendations have been published to define which patients should be selected for genetic testing based on a clinical suspicion of a HBOC syndrome. For context, the Instituto Nacional de Cancerología from Colombia developed an "Institutional Program for the identification and management of families with suspected hereditary cancer" for healthcare purposes, within which breast cancer is the most referred pathology to the genetics service (55%; 540/986). Inherited cancer was diagnosed in 21% of the patients with breast cancer who met NCCN criteria; most of these were associated with BRCA1 and BRCA2 mutations (12.3%) and to a lesser extent to other breast cancer susceptibility genes (8.6%).Objective: To identify the most implemented selection criteria to diagnose inherited breast cancer cases, through a review of the literature, and to achieve an institutional consensus on the indications for referral to genetic counseling and genetic testing for diagnostic and systemic treatment with PARPi.Materials and methods: A narrative review of the scientific literature published in the last 10 years as of August 30, 2021 on the prevalence of germline mutations in the BRCA1 and BRCA2 genes, and in other non-BRCA genes, in patients with breast cancer was carried out. Overall, 146 articles were first identified but only 41 were selected. Within the functional units of breast and soft tissue, genetics and clinical oncology, the available evidence was presented and a broad discussion was carried out; finally the indications for referral to genetic counseling, for genetic testing and for systemic treatment with PARPi were defined.Results: As reported in the literature, clinical criteria for HBOC syndrome should include: triple negative subtype, bilateral presentation, very early age of diagnosis and family history (FH) of breast cancer before 50 years of age or ovarian cancer at any age. Conclusions: The NCCN recommendations for referral to genetic counseling and ordering genetic testing to diagnose HBOC cases are adopted at the Instituto Nacional de Cancerología from Colombia, as well as the OlympiA study criteria for ordering genetic testing to guide systemic PARPi therapy. This will allow our Institution to adequately offer this service to the Colombian population.

Trastorno límite de la personalidad (TLP), experiencias adversas tempranas y sesgos cognitivos: una revisión sistemática

Introducción: La investigación actual y los artículos rastreados sobre adversidad temprana y sesgos cognitivos en pacientes con trastorno límite de la personalidad (TLP) evidencian la relación entre estas variables y la gravedad de los síntomas clínicos de este trastorno. Objetivo: Revisar sistemáticamente la evidencia de la relación entre adversidad temprana, sesgos cognitivos y agudización de los síntomas del TLP. El vacío investigativo tiene que ver con el tipo específico de adversidad temprana y su relación con el tipo específico de sesgos cognitivos y el curso del TLP de pacientes con este diagnóstico. Metodología: Se realizó una revisión sistemática de la literatura y para reportar la evidencia se utilizó la versión 2020 de la declaración Prisma. Las bases de datos consultadas fueron Scopus, Pubmed, Web of Science y PsycInfo. En la búsqueda también se incluyeron bases de datos de literatura gris como Google Académico, Open Gray y WorldCat. Resultados: En total se incluyeron en el estudio 13 artículos que satisficieron criterios de originalidad, temática estudiada (adversidad temprana, funcionamiento cognitivo y sintomatología límite) y población indicada (pacientes con diagnóstico de TLP). Conclusiones: Si bien existe evidencia de que la adversidad temprana en general es un factor de riesgo para el TLP, se necesita más investigación para comprender los tipos específicos de adversidad que pueden estar más fuertemente relacionados con el desarrollo del TLP. Si bien algunos estudios han identificado sesgos cognitivos en individuos con TLP, poco se conoce sobre el modo en que estos sesgos se desarrollan y cambian con el tiempo, o según la etapa de exposición del paciente a la adversidad temprana.

Introduction: Current research and articles on early adversity and cognitive biases in patients with borderline personality disorder (BPD) demonstrate the relationship between these variables and the severity of the clinical symptoms of this disorder. Objective: The aim was to systematically review the evidence of the relationship between early adversity, cognitive biases, and exacerbation of symptoms of borderline personality disorder. The research gap concerns the particular type of early adversity and its relationship with the specific type of cognitive biases and the course of BPD in patients with this diagnosis. Methodology: We conducted a systematic literature review, and the Prisma statement version 2020 was used to report the evidence. The databases consulted were Scopus, Pubmed, Web of Science, and PsycInfo. Gray literature databases, such as Google Scholar, Open Gray, and WorldCat, were also included in the search. Results: We included 13 articles in the study that met the criteria for originality, studied theme (early adversity, cognitive functioning, and borderline symptomatology), and target population (patients diagnosed with a personality disorder). Conclusions: We found that while there is evidence that early adversity, in general, is a risk factor for BPD, further research is needed to understand the specific types of adversity that may be more strongly related to the development of BPD. In addition, although some studies have identified cognitive biases in individuals with BPD, little is known about how these biases develop and change over time or according to the stage of the patient's exposure to early adversity.

Self-esteem, Body Image, and Dating Violence in Colombian Adolescents and Young Adults.

Two objectives were formulated. The first was to establish whether characteristics such as self-esteem, perception of body image, and dating perpetration explain dating victimization. The second was to check if sex moderates the relationship between low self-esteem and dissatisfaction and if body dissatisfaction mediates the effect of low self-esteem on being a victim of dating violence (DV). A total of 1,409 Colombian adolescents and young adults, secondary and university students (42.5% men and 57.5% women), aged between 14 and 25 years (M = 18.6 years; SD = 2.8 years) participated. An explanatory correlational design was used, in which the Rosenberg Self-Esteem Scale, the Body Shape Questionnaire, and the Revised Dating Violence Questionnaire were applied. Six regression models were proposed for both men and women, where it was found that low self-esteem, body dissatisfaction, and violence exerted in the courtship explain the violence received. Also, through the moderated mediation analysis, a moderate conditional indirect effect was verified of low self-esteem in DV victimization (R2 = 0.052***) through body dissatisfaction, being higher in women than in men. The preceding points to the convenience of intervening on self-esteem and body image in adolescents and young victims of this type of violence and considering these aspects in prevention campaigns.

SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas.

Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition. Here we present a case-series of 19 unrelated Colombian patients with a clinical diagnosis of PPGL tumors that underwent germline genetic testing as part of the Hereditary Cancer Program developed at the Instituto Nacional de Cancerología, Colombia (INC-C), the largest reference cancer center in the country. Ten of 19 patients (52.63%) were identified as carriers of a pathogenic/likely pathogenic (P/LP) germline variant in a known susceptibility gene. The majority of the P/LP variants were in the SDHB gene (9/10): one corresponded to a nonsense variant c.268C>T (p.Arg90*) and eight cases were found to be carriers of a recurrent CNV consisting of a large deletion of one copy of exon 1, explaining 42% (8/19) of all the affected cases. Only one additional case was found to be a carrier of a missense mutation in the VHL gene: c.355T>C (p.Phe119Leu). Our study highlights the major role of SDHB in Colombian patients with a clinical diagnosis of PGL/PCC tumors and supports the recommendation of including the analysis of large deletions/duplications of the SDHB gene as part of the genetic counselling to improve the detection rate of hereditary cases and their clinical care.

Política Pública sobre violencia en el noviazgo: ¿asignatura perdida en Colombia? / Public Policy on Dating Violence: A Failed Subject in Colombia?

Resumen La violencia en el noviazgo (VN) se considera un problema de salud pública por los efectos a nivel físico, emocional, social, además al ser una etapa previa a la conformación de familias, los eventos violentos serán posiblemente replicados y generen violencia intrafamiliar. Se requiere de estrategias de intervención individual, familiar, comunitario y poblacional; surge entonces la necesidad de identificar si existen o no políticas públicas y legislación que aborden de manera directa la VN para el caso de colombiano.

Abstract Dating violence (DV) is considered a public health problem due to the physical, emotional, social effects. In addition to being a pre-family stage, violent events will possibly be replicated and could generate domestic violence. Individual, family, community, and population intervention strategies are required. There is then a need to identify whether or not public policies and legislation exist, which directly address DV in the Colombian case.

Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance.

OBJECTIVE: Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an opportune genetic diagnosis. MATERIALS AND METHODS: Retrospective analysis of patients diagnosed with PGL/PCC. Germline mutations were studied using next-generation sequencing panels including SDHA, SDHB, SDHC and SDHD. Clinical data were collected from clinical records, and all patients received genetic counseling. RESULTS: We describe 4 families with PGL/PCC and germline mutations in SDH complex genes. 2 families have SDHB mutations and 2 SDHD mutations. The clinical presentation of the patients and their families was heterogeneous, with some being atypical according to the literature. CONCLUSIONS: PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes.

Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance

ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an opportune genetic diagnosis. Materials and methods Retrospective analysis of patients diagnosed with PGL/PCC. Germline mutations were studied using next-generation sequencing panels including SDHA, SDHB, SDHC and SDHD. Clinical data were collected from clinical records, and all patients received genetic counseling. Results We describe 4 families with PGL/PCC and germline mutations in SDH complex genes. 2 families have SDHB mutations and 2 SDHD mutations. The clinical presentation of the patients and their families was heterogeneous, with some being atypical according to the literature. Conclusions PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes.

Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.

Purpose: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for ~5-10% of all diagnosed breast and ovarian cancers. Breast cancer is the most common malignancy and the leading cause of cancer-related mortality among women in Latin America (LA). The main objective of this study was to develop a comprehensive understanding of the genomic epidemiology of HBOC throughout the establishment of The Latin American consortium for HBOC-LACAM, consisting of specialists from 5 countries in LA and the description of the genomic results from the first phase of the study. Methods: We have recruited 403 individuals that fulfilled the criteria for HBOC from 11 health institutions of Argentina, Colombia, Guatemala, Mexico and Peru. A pilot cohort of 222 individuals was analyzed by NGS gene panels. One hundred forty-three genes were selected on the basis of their putative role in susceptibility to different hereditary cancers. Libraries were sequenced in MiSeq (Illumina, Inc.) and PGM (Ion Torrent-Thermo Fisher Scientific) platforms. Results: The overall prevalence of pathogenic variants was 17% (38/222); the distribution spanned 14 genes and varied by country. The highest relative prevalence of pathogenic variants was found in patients from Argentina (25%, 14/57), followed by Mexico (18%, 12/68), Guatemala (16%, 3/19), and Colombia (13%, 10/78). Pathogenic variants were found in BRCA1 (20%) and BRCA2 (29%) genes. Pathogenic variants were found in other 12 genes, including high and moderate risk genes such as MSH2, MSH6, MUTYH, and PALB2. Additional pathogenic variants were found in HBOC unrelated genes such as DCLRE1C, WRN, PDE11A, and PDGFB. Conclusion: In this first phase of the project, we recruited 403 individuals and evaluated the germline genetic alterations in an initial cohort of 222 patients among 4 countries. Our data show for the first time in LA the distribution of pathogenic variants in a broad set of cancer susceptibility genes in HBOC. Even though we used extended gene panels, there was still a high proportion of patients without any detectable pathogenic variant, which emphasizes the larger, unexplored genetic nature of the disease in these populations.

Aspectos criminogénicos de la reincidencia y su problema / Criminogenic aspects of recidivism and its problem

Resumen Introducción: La reincidencia penitenciaria se constituye en uno de los indicadores de mayor relevancia para percibir el impacto que la pena privativa de la libertad tiene sobre el proceso de resocialización. A su vez, es el referente de mayor objetividad para valorar la efectividad o inefectividad de las medidas que el gobierno nacional colombiano viene implementando en materia política criminal. Objetivo El objetivo de este estudio es presentar un marco comprensivo del problema de la reincidencia criminal para el estado colombiano, y dar a conocer algunos de los estudios científicos que tratan de explicarla. Metodología: El proceso para la construcción del marco comprensivo fue guiado mediante la diagramación CPC (causas - problemática - consecuencias); en tanto que la revisión de antecedentes se realizó con una estrategia de búsqueda sistemática usando como palabras clave: "recidivism" "criminal recidivism", en las bases de datos Google Scholar, Pubmed, Redalyc, Scielo, Dialnet. Resultados y discusión. La información que sustenta este escrito sugiere que la reincidencia criminal de tipo penitenciario se ha convertido no solo en consecuencia de la inefectividad de las medidas públicas que se han implementado, sino que en la actualidad es causa de sí misma. Aunado a esto, se constituye en un fenómeno multicausal, que exige una intervención pública compleja.

Abstract Introduction: Penitentiary recidivism is one of the most relevant indicators to perceive the impact of the deprivation of liberty on the process of resocialization. In turn, it is the benchmark of greater objectivity to assess the effectiveness or ineffectiveness of the measures that the Colombian national government has been implementing in matters of criminal politics. Objective The objective of this study is to present a comprehensive framework of the problem of criminal recidivism for the Colombian state, and to present some of the scientific studies that try to explain it. Methodology: The process for the construction of the comprehensive framework was guided by the CPC diagram (causes - problematic - consequences); whereas the background check was carried out with a systematic search strategy using as keywords: "recidivism" "criminal recidivism", in Google Scholar, Pubmed, Redalyc, Scielo, Dialnet databases. Results and Discussion. The information that supports this writing suggests that criminal recidivism of the penitentiary type has become not only a consequence of the ineffectiveness of the public measures that have been implemented, but that it is currently a cause of itself. In addition to this, it is a multi-causal phenomenon that requires complex public intervention.

Altered immune parameters correlate with infection-related hospitalizations in children with Down syndrome.

In addition to previously studied immunological variables, the relative expression of IFNGR2, IFNAR1, CD18, and CD275 (all encoded in chromosome 21) on circulating leucocytes and multifunctional T cells (evaluated by an intracellular cytokine/proliferation assay) were compared between children with Down syndrome (DS) and healthy controls (HC). As previously reported, numbers of lymphocytes, CD4(+) T cells, Treg cells, B cells, and levels of serum IgM were decreased, and levels of IgG and IgA were increased in children with DS. Moreover, the relative expression of CD18 on T and B cells (previously and not previously reported, respectively) were elevated in DS children (p⩽0.01). Age and numbers of B and Treg cells moderately correlated with retrospectively identified infection related hospitalizations (rho: 0.300-0.460, p⩽0.003). Age and the numbers of Treg cells also correlated with prospectively identified infection related hospitalizations. Future studies are necessary to clarify the role of these parameters in the immunity of DS patients.

Do firstborn children have an increased risk of ADHD?

OBJECTIVE: Although previous reports have found no birth-order influence on ADHD risk, the authors hypothesize that being the firstborn is a risk factor for developing ADHD. METHOD: They selected all of the currently treated ADHD outpatients (n = 748) from our database. Families with adopted sons, nonnuclear families, and families with only one child and with sons (affected or unaffected) younger than 6 or older than 18 years were excluded. A total of 181 families with 213 ADHD sons met the inclusion criteria. We used all siblings without a clinical diagnosis of ADHD and who had no contact with our service as our unaffected controls (n = 173). RESULTS: The bivariate analysis showed that ADHD was associated with birth order and that firstborn children had nearly twice the ADHD risk of children with other birth orders. CONCLUSION: birth order can be an ADHD risk factor in clinical samples.

Estimación de la calidad de vida relacionada con la salud y medidas de utilidad en una población de pacientes colombianos con lupus eritematoso sistémico / Estimated quality of life and health related utility measurements in a population of Colombian patients with systemic lupus erythematosus

Resumen Introducción: La posibilidad de daño orgánico irreversible secundario a la actividad del lupus eritematoso sistémico o por su tratamiento afectan, indefectiblemente, la calidad de vida relacionada con la salud de estos pacientes; éste es un concepto en el cual influyen factores: sociales, familiares y culturales, y es un desenlace primordial en el pronóstico de las enfermedades crónicas. Objetivo: Determinar la calidad de vida relacionada con la salud y los valores de utilidad, en una muestra de pacientes con diagnóstico de lupus eritematoso sistémico y su correlación con actividad y cronicidad. Materiales y métodos: Estudio observacional, descriptivo, de corte transversal. Se incluyeron sujetos con lupus eritematoso sistémico según los criterios del Colegio Americano de Reumatología,ACR (por sus siglas en inglés) de 1997. Se hizo la evaluación de calidad de vida relacionada con la salud mediante SF-36; valores de utilidad, parámetros psicológicos y sociales relacionados con el impacto de la enfermedad con la escala HAD, el cuestionario Duke UNK y su asociación con la actividad lúpica a través de SELENA/SLEDAI y con daño orgánico a través de SLICC-ACR. Resultados: Se incluyeron 152 pacientes. 90.1% mujeres. Los valores promedio de los dominios de calidad de vida relacionada con la salud oscilaron desde 52.9 para el desempeño físico hasta 67.3 para función social. En cuanto a las asociaciones evaluadas éstas fueron débiles, pero estadísticamente significativas, excepto para la variable DUKE-UNK. Conclusiones: La mayoría de los pacientes con lupus eritematoso sistémico tuvo una calidad de vida, relacionada con la salud, ubicada por encima del percentil 50. Las dimensiones más comprometidas fueron las relacionadas con salud física.

Abstract Background: The possibility of irreversible organ damage secondary to systemic lupus erythematosus activity or treatment, inevitably affects the health-related quality of life of these patients. This is a concept which is affected by social, cultural and familial factors, and is a primary outcome in the prognosis of chronic diseases. Objective: To determine the health-related quality of life and utility values in a sample of patients with a diagnosis of systemic lupus erythematosus, and its correlation with activity and chronicity. Materials and methods: Observational, descriptive, cross-sectional study in subjects with systemic lupus erythematosus according to 1997 ACR criteria. Outcomes: Evaluation of health-related quality of life using the SF-36 questionnaire; values of utility, social and psychological parameters related to the impact of the disease with HAD scale, the Duke UNK questionnaire, and its association with lupus activity with SELENA/SLEDAI, and organic damage through the SLICC/ACR. Results: A total of 152 patients were included, of whom 90.1% were women.The mean values of the health-related quality of life domains ranged from 52.9 in the physical performance to 67.3 in the social function. As regards the evaluated associations, these were weak, but statistically significant, except for the DUKE-UNK variable. Conclusions: The majority of patients with systemic lupus erythematosus had a healthrelated quality of life located above the 50th percentile.The most compromised dimensions were those related to physical health.

Estimación de las frecuencias de las mucopolisacaridosis y análisis de agrupamiento espacial en los departamentos de Cundinamarca y Boyacá / Estimation of the mucopolysaccharidoses frequencies and cluster analysis in the Colombian provinces of Cundinamarca and Boyacá

Introducción. Las mucopolisacaridosis son enfermedades poco frecuentes de depósito lisosómico de glucosaminoglucanos, con datos variables sobre su incidencia en diferentes países a nivel mundial. En Latinoamérica hay reportes de frecuencias en Brasil, pero en Colombia la información es escasa. Objetivos. Estimar las frecuencias de las mucopolisacaridosis mediante un estudio retrospectivo en los departamentos de Cundinamarca y Boyacá, y estimar la agregación espacial de los casos en estos mismos departamentos. Materiales y métodos. Se revisaron los registros de pacientes de diferentes instituciones de referencia para enfermedades genéticas, así como los registros de nacimientos vivos entre 1998 y 2007. Con base en ellos, se estimaron las frecuencias para cada tipo de mucopolisacaridosis. Se analizó la agregación espacial de los casos utilizando el programa SaTScan™. Resultados. La frecuencia combinada para todas las mucopolisacaridosis fue de 1,98 casos por 100.000 nacidos vivos. La mayor frecuencia fue para la de tipo IV, con 0,68 casos por 100.000 nacidos vivos, mientras que la III fue la menor, con 0,17 casos. Se encontraron tres posibles áreas de agregación espacial para las mucopolisacaridosis I, III y IV. Conclusión. La frecuencia combinada para todas las mucopolisacaridosis se encuentra dentro de los rangos reportados en la literatura científica, siendo la de tipo IV la más frecuente y la de tipo VII la menos frecuente. Aunque los datos aquí reportados podrían corresponder a un subregistro, dadas las dificultades inherentes a la recolección de la información en nuestro país, consideramos que son un estimativo válido de las frecuencias de estas enfermedades.

Introduction. Mucopolysaccharidoses are a group of infrequent disorders caused by the lysosomal deposit of glycosaminoglycans. Its incidence is quite variable among thecountries where it has been documented. In Brazil, disorder frequencies have been reported, but in Colombia information on them is scarce. Objectives. The frequency and spatial aggregations of the mucopolysaccharidoses were estimated by a retrospective study in two central Colombian provinces. Materials and methods. The records of patients and live newborns between 1998-2007 were reviewed from several reference institutions for genetic diseases. From these records, the frequencies for each mucopolysaccharidosis were estimated. The spatial aggregation of the cases was analyzed using the SaTScan software. Results. The combined frequency for all the mucopolysaccharidoses was 1.98 cases per 100,000 live newborns. MPS IV had the highest frequency with 0.68 cases per 100,000 live newborns and MPS III showed a lower frequency of 0.17/100,000. Three spatial aggregation areas were indicated for MPS I, MPS III and MPS IV. Conclusion. The combined frequency for all the mucopolysaccharidoses has been reported, with type IV the most frequent and the type VII in second place. The data herein constitute a record subset and, in spite of the difficulties inherent to the data retrieval in Colombia, they are a valid estimate of the frequencies of these diseases in central Colombia.

[Estimation of the mucopolysaccharidoses frequencies and cluster analysis in the Colombian provinces of Cundinamarca and Boyacá]. / Estimación de las frecuencias de las mucopolisacaridosis y análisis de agrupamiento espacial en los departamentos de Cundinamarca y Boyacá

INTRODUCTION: Mucopolysaccharidoses are a group of infrequent disorders caused by the lysosomal deposit of glycosaminoglycans. Its incidence is quite variable among the countries where it has been documented. In Brazil, disorder frequencies have been reported, but in Colombia information on them is scarce. OBJECTIVES: The frequency and spatial aggregations of the mucopolysaccharidoses were estimated by a retrospective study in two central Colombian provinces. MATERIALS AND METHODS: The records of patients and live newborns between 1998-2007 were reviewed from several reference institutions for genetic diseases. From these records, the frequencies for each mucopolysaccharidosis were estimated. The spatial aggregation of the cases was analyzed using the SaTScan software. RESULTS: The combined frequency for all the mucopolysaccharidoses was 1.98 cases per 100,000 live newborns. MPS IV had the highest frequency with 0.68 cases per 100,000 live newborns and MPS III showed a lower frequency of 0.17/100,000. Three spatial aggregation areas were indicated for MPS I, MPS III and MPS IV. CONCLUSION: The combined frequency for all the mucopolysaccharidoses has been reported, with type IV the most frequent and the type VII in second place. The data herein constitute a record subset and, in spite of the difficulties inherent to the data retrieval in Colombia, they are a valid estimate of the frequencies of these diseases in central Colombia.

Complejo Limb-Body Wall en el Hospital Universitario San Ignacio en Bogotá (Colombia): reporte de caso y revisión de la literatura / Limb-body wall complex in the San Ignacio Teaching Hospital at Bogota, Colombia: a case report and literature review

Introducción: las alteraciones del cordón umbilical están asociadas con diversas complicaciones de la gestación a corto y a largo plazo, algunas con pocas probabilidades de sobrevida y relacionadas con lesiones fetales múltiples. El complejo Limb-Body Wall (LBWC), compuesto por defectos de la pared corporal lateral y anomalías por acortamiento de miembros, es una de tales complicaciones, cuyas aún discutidas etiologías, pobre pronóstico y posibilidad de recurrencia hacen que cobre importancia en el diagnóstico ecográfico, la atención neonatal y el abordaje de la autopsia. Objetivos: reportar un caso de LBWC y revisar la literatura publicada sobre su etiología, características clínicas y diagnóstico, en el contexto de las complicaciones asociadas con las alteraciones del cordón umbilical. Materiales y métodos: se presenta el caso clínico de una recién nacida de primer embarazo de madre adolescente quien consultó a una entidad de nivel referencia y alta complejidad, recién nacida que falleció a los pocos minutos de nacer; presentaba defecto de la pared abdominal, escoliosis y esbozo de miembro superior izquierdo, asociado con cordón umbilical de 6 cm. Se realizó una revisión de la literatura publicada en las bases de datos Medline vía PubMed, Ovid e Hinari. Conclusión: el LBWC se asocia con un índice importante de morbimortalidad y con la expresión de un cordón excesivamente corto; por tanto, cobra gran relevancia hacer un diagnóstico oportuno y brindar asesoría genética adecuada a las familias...

Introduction: umbilical cord alterations are associated with several short and long-term complications during pregnancy, some involving little chance of survival related to multiple foetal lesions. One of those anomalies is the Limb-Body Wall Complex (LBWC) which consists of lateral body wall defects and anomalies due to shortening of the limbs. Its still discussed aetiology, poor prognosis and possible recurrence make it important in ecographic diagnosis, neonatal attention and the approach during autopsy. Objectives: reporting a case of LBWC and reviewing the literature published about its aetiology, clinical characteristics and diagnosis within the context of the complications associated with umbilical cord alterations. Materials and methods: a clinical case of a female newborn resulting from an adolescent mother’s first pregnancy who consulted a reference and high complexity entity is presented. The newborn died a few minutes after being born, presenting a defect of the abdominal wall, scoliosis and upper left limb stump associated with a 6 cm umbilical cord. The literature published in Medline data bases was reviewed using PubMed, Ovid and Hinari. Conclusion: LBWC is an expression of an excessively short cord and is associated with important morbidity-mortality. Thus an early diagnosis must be made and suitable genetic advice given to families...

Schizotypy and pathological personality profile in siblings of patients with psychosis.

Schizotypy has been proposed to be the expression of the genetic vulnerability to schizophrenia. Schizotypal features have been associated with personality dimensions found in patients with psychosis. In this study, we compared the Dimensional Assessment of Personality Pathology - Basic Questionnaire (DAPP-BQ) scores of patients with psychosis, siblings scoring higher on schizotypy (SSHS), and siblings scoring lower (SSLS). The SSHSs displayed a DAPP-BQ profile characterized by high scores in the dimensions of affective lability, anxiousness, submissiveness, social avoidance, identity problems, oppositionality, narcissism, and restricted expression, distinguishing them from the SSLS. Due to these dimensions, SSHSs are more similar to the patients' DAPP-BQ profile. The results suggest that this pathological personality profile might contribute to increase the risk of developing psychosis in siblings who have more schizotypal features.

[Psychological and behavioural symptoms as factors of progression to Alzheimer-type dementia in mild cognitive impairment]. / Síntomas psicológicos y conductuales como factores de progresión a demencia tipo Alzheimer en el deterioro cognitivo leve.

INTRODUCTION: Mild cognitive impairment (MCI) is a cognitive disturbance in which intensity is not enough to be classified as dementia and does not affect significantly the functioning or activities of daily living. The MCI has a progression rate to Alzheimer-type dementia (ATD) related to different factors. AIM: To evaluate the association between the presence of psychological and behavioural symptoms (PBS) with progression to ATD en MCI subjects. PATIENTS AND METHODS: We evaluated 318 patients with MCI assessed in a Dementia Unit of Catalonia between 1998 to 2002 who were followed five years after the MCI diagnosis. We determined the PBS presence, those classified as affective, behavioural and psychotic symptoms. We also assessed sociodemographic aspects and the ApoE genotype. RESULTS: The mean age was 74 +/- 7.87 years-old, 56.7% presented PBS, with affective (53%), behavioural (32.2%) and psychotic symptoms (14.8%). In the study, 32.1% progressed to ATD. We found association between the presence of PBS and the progression to ATD (OR = 2.77; 95% CI = 1.66-4.63), specifically with behavioural and psychotic symptoms. The ApoE epsilon4 allele showed association with the progression to ATD (OR = 1.81; 95% CI = 1.11-2.94). The logistic regression model showed a significant association between the PBS and the epsilon4 allele with the progression to ATD. CONCLUSIONS: The PBS presence in MCI patients is associated with ATD progression with or without ApoE epsilon4 allele.

Estilos psicológicos de personalidad en un grupo de mujeres adultas jóvenes dedicadas a la prostitución prepago en la ciudad de Medellín / Personality styles of a group of young adult women dedicated to prepayment prostitution in the city of Medellín

La Organización Mundial de la Salud (OMS) define la prostitución como toda actividad en la que una persona intercambia servicios sexuales a cambio de dinero o cualquier otro bien (OMS 1989, citada en CONAPO, 1994, p. 761). El presente estudio busca describir los estilos psicológicos de personalidad en un grupo de mujeres adultas jóvenes dedicadas a la prostitución prepago en la ciudad de Medellín. Se trata de un estudio descriptivo de corte transversal. La muestra está compuesta por 44 mujeres que ejercen la prostitución prepago en la ciudad de Medellín. El instrumento utilizado es el Inventario Mllon de Estilos de Personalidad (MIPS), compuesto por 180 ítems. Los resultados muestran que el 70,5 por ciento pertenecen al estrato socioeconómico medio y el 29,5 por ciento pertenecen a estrato alto. En la variable escolaridad, el 88,6 por ciento reporta que está realizando estudios superiores, y el 9,1 por ciento tiene estudios superiores completos; considerándose necesario para acceder al oficio la preparación académica. Los estilos psicológicos de personalidad predominantes en la muestra son: comunicatividad, individualismo, extraversión, insatisfacción, discrepancia, encontrándose que no hay en ellas el equilibrio entre las bipolaridades señalado por Theodore Mllon como necesario para tener un funcionamiento adaptativo.

Perfil epidemiológico y clínico de los pacientes hospitalizados en la Clínica Psiquiátrica Nuestra Señora del Sagrado Corazón, durante septiembre de 2003 (Medellín) / Epidemiological and Clinical Profile of Hospitalized Patients in the Psychiatric Clinic “Nuestra Señora del Sagrado Corazón” during September 2003-Medellín.

Introducción y objetivo: La hospitalización es fundamental para el tratamiento de enfermedades psiquiátricas graves; por ello es importante el conocimiento que los servicios de salud tengan sobre la población que atienden, a fin de que puedan planear la atención, la docencia y la investigación. Así, la información de cada institución ayuda a conformar el panorama epidemiológico nacional. Este trabajo describe las características sociodemográficas y clínicas de pacientes agudos hospitalizados en una clínica psiquiátrica. Materiales y métodos: estudio observacional, descriptivo, con fuentes secundarias de información (historias clínicas) de los ingresos de septiembre de 2003. Se usó en el programa SPSS 10 para el análisis de datos. Resultados: la edad promedio fue 36,9 años (DE 15,1); 22 pacientes (32,4%) eran hombres y 46 (67,6%), mujeres. La mayoría (63,2%) era de Medellín. Los diagnósticos más frecuentes fueron: trastorno depresivo mayor (22 = 23,4%), trastorno bipolar (27 = 39,7%) y trastornos psicóticos (14 = 20,6%). El promedio de estancia fue 8,8 días (DE 5,3). Conclusión: la mayoría de pacientes fue mujeres, de edad adulta media, con trastorno depresivo mayor o trastorno bipolar, de Medellín, lo cual facilitaría su inclusión en programas ambulatorios que incluyan terapia cognitivo-conductual y psicoeducación.

Introduction and objective: Hospitalization is fundamental in the treatment of severe psychiatric disorders, the health service';s knowledge about it';s target population is basic for planning attention, education and investigation. Information from every institution is useful to conform the national epidemiological map. This paper describes the sociodemographic and clinical characteristics of acute patients hospitalized in a psychiatric hospital. Materials and methods: Descriptive research, using secondary information sources (clinical histories) of patients hospitalized in September of 2003. SPSS 10 software was used for data analysis. Results: The mean age was 36,9 years (DE 15,1), 22 (32,4%) patients were men and 46 (67,6%) women, mostly (63,2%) from Medellín. The most frequent diagnosis were: major depressive disorder, 22 (23,4%) patients; bipolar disorder, 27 (39,7%); psychotic disorders, 14 (20,6%). The mean length of stay was 8,8 days (DE 5,3). Conclusion: Most of the patients were adult middle age women with major depressive disorder or bipolar disorder, from Medellín, making it easier to include them in out-patient care programs including cognitive behavior therapy and psycho-education.

Influencia de los programas de rehabilitación cardiaca en el retorno a la vida laboral / Influence of the rhabilitation programs with the labor return

La vuelta al trabajo constituye uno de los objetivos de los programas de Rehabilitación Cardíaca. Debido a la alta incidencia de enfermedad coronaria, el número de pacientes en edad laboral implicados es grande, con las consiguientes pérdidas económicas y sociales. OBJETIVOS: Determinar el tiempo de reingreso laboral después de un evento cardiovascular y los factores de riesgo presentes en los sitios de trabajo, en los pacientes que asisten a la fase II del programa de Rehabilitación Cardíaca de la Fundación Cardioinfantil de cardiología. Estudiamos 31 pacientes quienes asistieron al programa, durante 3 meses, 3 veces a la semana. Ellos aceptaron responder un cuestionario de reingreso laboral, en donde conocían el tiempo de retorno al trabajo, capacidad física al momento de regresar al trabajo y factores de riesgo cardiovasculares en el lugar de trabajo. Contamos con 30 hombres y 1 mujer, el 74 por ciento de los pacientes tenían una actividad laboral que implicaba mayor actividad física que intelectual. CONCLUSIONES: El promedio de reingreso al trabajo fué de 42 días, con un horario diario de 4 a 8 horas diarias. Los factores de riesgo cardiovascular que los pacientes identificaron en el sitio de trabajo fueron estrés y la dieta rica en grasas. El paciente regresó a su trabajo con una tolerancia a la actividad física de 8 mts. Refirienron sensación de bienestar y capacidad para llevar una vida más productiva.