Twelve tips for using the Understanding by Design® curriculum planning framework.

BACKGROUND: Health professions faculty engaged in curriculum planning or redesign can struggle with developing courses or programs that align desired learner outcomes, such as competencies to be applied in a clinical setting, with assessment and instruction. AIMS: Our medical school implemented the Understanding by Design (UbD) framework to achieve alignment of outcomes, assessments and teaching during the renewal of our four-year curriculum. This article shares our strategies and practices for implementing UbD with teams of faculty curriculum developers. DESCRIPTION: The UbD framework is a 'backward' approach to curriculum development that begins by identifying learner outcomes, followed by the development of assessments that demonstrate achievement of competencies and concludes with the design of active learning experiences. UbD emphasizes the development of deep understandings that learners can transfer to novel contexts. CONCLUSIONS: We found UbD to be a flexible, adaptable approach that aligns program and course-level outcomes with learner-centred instruction and principles of competency-based medical education and assessment.

In vivo biocompatibility testing of nanoparticle-functionalized alginate-chitosan scaffolds for tissue engineering applications.

Background: There is a strong interest in designing new scaffolds for their potential application in tissue engineering and regenerative medicine. The incorporation of functionalization molecules can lead to the enhancement of scaffold properties, resulting in variations in scaffold compatibility. Therefore, the efficacy of the therapy could be compromised by the foreign body reaction triggered after implantation. Methods: In this study, the biocompatibilities of three scaffolds made from an alginate-chitosan combination and functionalized with gold nanoparticles (AuNp) and alginate-coated gold nanoparticles (AuNp + Alg) were evaluated in a subcutaneous implantation model in Wistar rats. Scaffolds and surrounding tissue were collected at 4-, 7- and 25-day postimplantation and processed for histological analysis and quantification of the expression of genes involved in angiogenesis, macrophage profile, and proinflammatory (IL-1ß and TNFα) and anti-inflammatory (IL-4 and IL-10) cytokines. Results: Histological analysis showed a characteristic foreign body response that resolved 25 days postimplantation. The intensity of the reaction assessed through capsule thickness was similar among groups. Functionalizing the device with AuNp and AuNp + Alg decreased the expression of markers associated with cell death by apoptosis and polymorphonuclear leukocyte recruitment, suggesting increased compatibility with the host tissue. Similarly, the formation of many foreign body giant cells was prevented. Finally, an increased detection of alpha smooth muscle actin was observed, showing the angiogenic properties of the elaborated scaffolds. Conclusion: Our results show that the proposed scaffolds have improved biocompatibility and exhibit promising potential as biomaterials for elaborating tissue engineering constructs.

[Autoimmunity and Freiburg classification in common variable immunodeficiency]. / Autoinmunidad y clasificación de Freiburg en pacientes con inmunodeficiencia común variable.

Introduction: Up to 25% of patients with common variable immunodeficiency (CVID) debut with autoimmunity, which is related to the Freiburg classification, which is based on flow cytometry. Objective: to determine the frequency and type of autoimmune diseases and their association with the Freiburg classification in adults with CVID. Methods: A cross-sectional, analytical and observational study was carried out with 33 patients belonging to the Primary Immunodeficiency Clinic of a third level hospital, with a diagnosis of CVID. They were divided into 3 phenotypes according to the Freiburg classification. Results: Of the 33 patients studied, 66.6% presented autoimmune diseases, 19 of them (86.3%) had cytopenia; 42.1% belonged to Freiburg group Ia, 36.8% to Ib and 21% to phenotype II. In 36.6% of the patients, autoimmune cytopenia were the first manifestation of CVID; and up to 70% of them belong to the Freiburg phenotype Ia (p = 0.086). Patients with autoimmune cytopenia had a lower percentage of isotype-switched memory B cells (p = 0.018), no higher percentage of CD21low B cells (p = 0.226). Conclusions: Classification by CVID phenotypes allows the identification of the patient's profile according to the percentage of memory B cells with isotype change, which is useful to intentionally search for non-infectious complications of the disease.

Introducción: hasta el 25% de los pacientes con inmunodeficiencia común variable (IDCV) debutan con autoinmunidad, la cual guarda relación con la clasificación de Freiburg, que se basa en la citometría de flujo. Objetivo: determinar la frecuencia y tipo de enfermedades autoinmunes y su asociación con la clasificación de Freiburg en adultos con IDCV. Métodos: se realizó un estudio transversal, analítico y observacional con 33 pacientes pertenecientes a la Clínica de Inmunodeficiencias Primarias de un hospital de tercer nivel con diagnóstico de IDCV. Se dividieron en tres fenotipos según la clasificación de Freiburg. Resultados: de los 33 pacientes estudiados, el 66.6% presentó enfermedades autoinmunes, de ellos 19 (86.3%) tuvieron citopenias. El 42.1% se clasificó en el grupo Ia de Freiburg, el 36.8% en el grupo Ib y el 21% en el fenotipo II. En el 36.6% de los pacientes las citopenias autoinmunes fueron la primera manifestación de IDCV, y hasta el 70% de ellos pertenecen al fenotipo Ia de Freiburg (p = 0.086). Los pacientes con citopenias autoinmunes tuvieron un menor porcentaje de células B de memoria con cambio de isotipo (p = 0.018), sin mayor porcentaje de células B CD21low (p = 0.226). Conclusiones: la clasificación por fenotipos en IDCV permite identificar el perfil del paciente y el tipo de manifestaciones asociadas, lo que es útil para buscar de manera intencionada complicaciones no infecciosas propias de la enfermedad.

TPMT gene polymorphisms (c.238G>C, c.460G>A and c.719A>G) in a healthy Venezuelan population.

Background: The presence of polymorphisms in the TPMT gene is associated with adverse effects in patients treated with standard doses of thiopurine drugs. Scientific evidence recognizes significant ethnic differences in their frequencies and how their early identification can prevent clinical complications. Methods: 150 healthy residents of Aragua, Venezuela were enrolled. The SNPs c.460G>A and c.719A>G were detected by PCR-restriction fragment length polymorphism assay and c.238G>C by allele-specific PCR. Results: All genotype polymorphisms were heterozygous. TPMT*1/*3A, TPMT*1/*3C and TPMT*1/*2 genotypes were found in 4.0, 2.0 and 0.7%, respectively. Conclusion: 6.7% of individuals have an intermediate TPMT activity. These findings support the importance of prior genotyping of TPMT in Venezuelan patients who require thiopurine drug therapy.

Infections in patients with adverse reactions to the use of unknown modeling substances for soft tissue enhancement in Cali, Colombia.

The infiltration of foreign materials not approved for medical purposes or of modeling substances used in soft tissue to modify the anatomical appearance for aesthetic purposes represents a serious health problem. These procedures lead to the development of delayed complications, including infections. The objective of this study was to characterize infections in patients with adverse reactions to the use of modeling substances in Cali, Colombia. A cross-sectional and descriptive study was used to determine the frequency of bacterial and fungal infections associated with complications from and adverse reactions to the use of modeling substances in 113 patients. We identified microorganisms in 22 patients and a frequency of 68.1% monomicrobial infections and 31.8% polymicrobial infections. The microorganisms identified in our study included Bacillus cereus, Mycobacterium fortuitum, and Pseudomonas stutzeri, among other microorganisms. The presence of adverse effects derived from the use of illegal modeling substances has been demonstrated; among these effects, infections occur with high frequency and place the health of the patient at risk and increase problems in health care.

[Pollen-food syndrom. A rewiev with a twist]. / Síndrome polen-alimento. Revisión con un toque.

Pollen-food syndrome (PFS) is characterized by allergic sensitization to proteins of pollens of grasses, weeds, and trees, which produce a type I hypersensitivity reaction that is associated with the intake of plant-derived foods that are usually in raw form. The most frequently-associated protein families are: profilins, PR-10, and ns LTP; however, others such as thaumatins, isoflavones, reductases, and B1,2 glucanases have been documented. The prototype syndrome is birch-fruit-vegetables, and of these, the most common is birch-apple due to the fact that more than 70 % of patients who are sensitized to birch present symptoms associated with the intake of plant-derived foods. The symptoms are restricted to the oral cavity; however, some patients may present systemic symptoms, including anaphylaxis, so it is important to identify the type of protein that is involved since the type of reaction that the patient may present depends on that. In spite of everything, it is considered an entity that may be under diagnosed due to its complex diagnosis and treatment, since the procedure, in most cases, is an elimination diet, because treatment with immunotherapy is not yet available. The purpose of this review is to describe the pathophysiology, as well as the most common pollen-food syndromes.

El síndrome polen-alimento (SPA) se caracteriza por la sensibilización alérgica a proteínas de pólenes de pastos, malezas y árboles, que producen una reacción de hipersensibilidad de tipo I, asociada a la ingesta de alimentos derivados de plantas, usualmente en forma cruda. Las familias de proteínas que más frecuentemente están asociadas son las profilinas, las PR-10 y las ns LTP; sin embargo, se ha documentado otras, como las taumatinas, isoflavonas reductasas y las B1,2 gluconasas. El síndrome prototipo es el abedul-frutas-vegetales, y de ellos el más común es el abedul-manzana, debido a que más de 70 % de los pacientes sensibilizados al abedul presentan síntomas asociados a la ingesta de alimentos derivados de plantas. Los síntomas están restringidos a la cavidad oral; sin embargo, algunos pacientes pueden presentar síntomas sistémicos, incluso anafilaxia, por lo que es importante identificar el tipo de proteína implicada, ya que de eso depende el tipo de reacción que puede presentar el paciente. Pese a todo, se considera una entidad que puede estar subdiagnosticada debido a su valoración y tratamiento complejos, debido a que el procedimiento en la mayor parte de los casos es dieta de eliminación, ya que aún no está disponible el tratamiento con inmunoterapia. El objetivo de esta revisión es describir la fisiopatología, así como los síndromes polen-alimento más comunes.

What the Pandemic Experience Taught Us About STEM Higher Education-School Partnerships.

The move to virtual schooling and other measures to reduce the spread of SARS-CoV-2 infection dramatically changed the educational experience for grades K-12 populations during the years 2020 and 2021. STEM teaching and learning, and community partnerships focused on STEM education, were not exempt from the changes. Universities and other community partners had to adapt their STEM partnership programming to address new needs and assist students, teachers, families, and schools throughout periods of at-home learning and the re-reintroduction of in-person classes. Some of the changes included developing new programs, providing health-related guidance to school leaders, and converting student-focused programs to virtual formats. Through these experiences, new approaches emerged and lessons were learned that can be applied to partnership activities during normal times. These lessons included recognizing the importance of addressing inequities in students' access to technology; development of strategies to redesign enrichment programs and classroom instruction for effective online delivery; and identifying and adapting to the range of technologies available to support virtual teaching in differing schools. The increased familiarity by all partners with virtual formats has opened the door to greater participation by students in STEM enrichment programs, online partnerships with STEM professionals and mentoring opportunities.

Altered Body Composition and Increased Resting Metabolic Rate Associated with the Postural Instability/Gait Difficulty Parkinson's Disease Subtype.

BACKGROUND: Weight loss in Parkinson's disease (PD) patients is a common but poorly understood manifestation. Several studies have reported that weight changes could be related to motor symptoms, drug side effects, dysphagia, depression, and/or dementia. Weight loss in PD is not a benign phenomenon and it has several clinical and prognostic implications with increased morbidity and mortality. Thus, it is crucial to determine nutritional changes in PD patients in order to prevent malnutrition and improve their quality of life. OBJECTIVE: To compare body composition and resting metabolic rates between PD patients and controls. METHODS: A total of 64 PD patients and 52 controls were studied. The Hoehn-Yahr scale was used to determine the disease stage, clinical and epidemiological data were recorded from verbal questionnaire, Inbody S10® was used to collect corporal parameters, and FitMate system was used to assess the resting metabolic rate. RESULTS: No significant differences were found between both experimental groups in age, gender, height, cholesterol levels, and the presence of hypertension, diabetes, and hypo/hyperthyroidism. However, the PD group showed lower body fat mass, whole-body fat percentage, and greater resting metabolic rate compared to controls (p < 0.05), with no significant differences in musculoskeletal mass. Parkinson's disease postural instability/gait difficulty (PD-PIGD) subtype showed lower body fat parameters, increased fat-free mass, and higher resting metabolic rates. CONCLUSIONS: These results suggest that PD patients present an increased resting metabolic rate associated with the postural instability/gait difficulty PD subtype, allowing a selective decrease of body fat mass and not musculoskeletal mass. Of note, several disease-related factors may contribute to this weight loss in PD patients, being a complex and multifactorial consequence. Our findings could likely be one of the many contributing factors. However, present findings may further add to our understanding of the phenomenon of weight loss in patients with PD.

Authentic Literacy and Language (ALL) for Science: A Curriculum Framework to Incorporate Science-Specific Disciplinary Literacies into the Elementary Classroom.

Early elementary students are not typically introduced to science-specific disciplinary literacies - the specific ways in which scientists use and interpret language - even though authentic experiences with literacy strategies and tools used within the field may help incorporate learners into the scientific community of practice. The lack of freely available easy-to-use resources to build these literacies in the early elementary classroom may be a contributing factor. The Authentic Literacy and Language (ALL) for Science curriculum framework was developed as a deliberate approach to teach disciplinary literacies in the context of science using three distinct components: Science Investigations, Mini-lessons, and Science Inquiry Circles. Here we outline the development of the curriculum framework and a pilot of a 2nd grade unit based on the framework to teach concepts related to heredity and life cycles. We present findings from the pilot and discuss future directions and implications for the development and implementation of curricular materials using the ALL for Science curriculum framework.

Advancing Holistic Review for Faculty Recruitment and Advancement.

PROBLEM: The challenges to developing a physician and scientific workforce that both reflects and provides quality care for the complex and richly diverse population of the United States are considerable. APPROACH: One medical school (Baylor College of Medicine) sought to adapt the Holistic Review in Admissions process developed by the Association of American Medical Colleges and apply it to faculty. In the fall of 2016, academic leaders received on-site training and completed several workshop exercises. The goal was for the leaders to build consensus around a holistic review framework for hiring and advancing faculty that is based on the institution's mission, vision, and values. OUTCOMES: This training occurred during Baylor's ongoing strategic planning and helped inform improvements in the faculty recruitment and hiring process, in the guidelines for faculty appointment and promotion, and in the pilot of an administrative leadership candidate rating tool, the "experiences-attributes-academic metrics model." The model that developed from the pilot translates the holistic review concept into a tool for identifying, hiring, and promoting faculty members and administrative leaders that is aligned to the values of Baylor. The utility of this framework lies in the clear delineation of metrics and qualifications along with the prioritization of attributes and experiences. NEXT STEPS: This innovation is being piloted and evaluated to determine its effect on advancing the institutional mission of Baylor.

CYP2D6 variability in populations from Venezuela.

CYP2D6 is an important cytochrome P450 enzyme that plays an important role in the metabolism of about 25% of currently prescribed drugs. The presence of polymorphisms in the CYP2D6 gene may modulate enzyme level and activity, thereby affecting individual responses to pharmacological treatments. The most prevalent diseases in the admixed population from Venezuela are cardiovascular and cancer, whereas viral, bacterial and parasitic diseases, particularly malaria, are prevalent in Amerindian populations; in the treatment of these diseases, several drugs that are metabolized by CYP2D6 are used. In this work, we reviewed the data on CYP2D6 variability and predicted metabolizer phenotypes, in healthy volunteers of two admixed and five Amerindian populations from Venezuela. The Venezuelan population is very heterogeneous as a result of the genetic admixture of three major ethnical components: Europeans, Africans and Amerindians. There are noticeable inter-regional and inter-population differences in the process of mixing of this population. Hitherto, there are few published studies in Venezuela on CYP2D6; therefore, it is necessary to increase research in this regard, in particular to develop studies with a larger sample size. There is a considerable amount of work remaining before CYP2D6 is integrated into clinical practice in Venezuela.

Doble carga nutricional y aproximación a sus determinantes sociales en Caldas, Colombia / Double Burden of Malnutrition in Caldas and an Approach to its Social Determinants

Introducción. La doble carga nutricional (DCN) es una problemática reconocida hace poco tiempo; sin embargo, se destacan estudios realizados en Bogotá, D.C. y en Tumaco, Colombia. Ojetivos. Identificar y analizar la situación de DCN poblacional e individual en Caldas a partir del Diagnóstico Nutricional de Caldas 2014 para, de esta manera, realizar una aproximación a los principales determinantes sociales en el municipio de Aguadas. Materiales y métodos. Estudio descriptivo y analítico transversal de tipo retrospectivo realizado en dos etapas: en la primera se analizaron las bases de datos del Diagnóstico Nutricional de Caldas 2014 para identificar la doble carga nutricional poblacional (DCNP) e individual (DCNI), teniendo en cuenta la variable sexo y edad; en la segunda se realizó el diseño, aplicación y análisis de un instrumento en siete casos familiares para realizar una aproximación a los determinantes sociales en Aguadas, Caldas. Resultados. Se evidenció una alta presencia de doble carga nutricional poblacional en los grupos evaluados y una baja prevalencia de doble carga nutricional individual. Los principales determinantes de la DCN en Aguadas son de tipo socioeconómico, gestacional, nutricional y alimentario. Conclusiones. En Caldas, la doble carga nutricional poblacional está presente, siendo los menores de 18 años el grupo con mayores prevalencias; no se evidenciaron diferencias significativas según la variable sexo. Es fundamental identificar los determinantes de la doble carga nutricional para incidir en las bases de la problemática.

Introduction. The social problems that arise from the Double Burden of Malnutrition have been recently recognized. Nevertheless, studies carried out in Bogotá D.C. and the municipality Tumaco stand out. Objective. To identify and analyze both the general population and the individual double burden of malnutrition in Caldas from the Diagnóstico Nutricional de Caldas 2014 (Spanish for Caldas Nutritional Diagnosis, 2014) in order to make an approach to its main social determinants in the municipality of Aguadas, Caldas. Materials and Methods. A descriptive, analytical and cross cutting study developed in two phases. During the first phase the Diagnóstico Nutricional de Caldas 2014 data bases were analyzed to identify both the general population and the individual double burden of malnutrition, considering the variables sex and age. The second phase consisted of the design, the implementation and the analysis of an interview in seven similar cases in order to make an approach to the double burden of malnutrition social determinants in Aguadas, Caldas. Results. General population double burden of malnutrition is evident in all the groups that were assessed; besides there is low prevalence of individual double burden of malnutrition. The main determinants of the double burden of malnutrition in Aguadas are socioeconomic, gestational and nutritional. Conclusion. General population double burden of malnutrition is present in Caldas, with children under 18 years being the group with the highest prevalence values. No significant differences in terms of sex were observed. It is fundamental to identify the main double burden of malnutrition social determinants to have an impact in the problematic foundations.

Estudio de infestación de caninos con Echinococcus granulosus en la provincia de La Rioja, Argentina / Study of infestatioon of dogs with Echinococcus granulosus in the province of La Rioja, Argentina

Este trabajo fue realizado en la provincia de La Rioja, ubicada en el noroeste argentino. El objetivo fue estimar el porcentaje de heces de caninos con presencia de antígenos de Echinococcus sp. en las distintas regiones de la provincia. Se tomaron un total de 269 muestras de materia fecal seca de caninos, que fueron analizadas por la técnica de copro-ELISA. La zona más afectada fue la zona IV, que contó con un 30,5% de muestras positivas. La zona I, que corresponde al Departamento Capital, tuvo un 12% de positividad. En el resto de las zonas, los porcentajes variaron entre el 11,4 y el 14,8%. Este es el primer estudio en la provincia sobre la existencia de la enfermedad en caninos. La falta de estrategias para el control de la equinococosis ha permitido la dispersión de la enfermedad

This work was conducted in the province of La Rioja, located in northwestern Argentina. The aim of this study was to estimate the percentage of dog feces showing the presence of antigens of Echinococcus sp. in different regions of the province. A total of 269 samples of dried canine stool were taken, which were analyzed by the copro-ELISA technique. The most affected area was zone IV, which had 30.5% of positive samples. Zone I corresponding to the Capital Department of the province had 12% of positivity. In other areas, the percentages ranged between 11.4% and 14.8%. This is the first study in the province of La Rioja on the existence of this disease in dogs. The lack of control strategies has allowed the spread of echinococcosis

[Study of infestation of dogs with Echinococcus granulosus in the province of La Rioja, Argentina]. / Estudio de infestación de caninos con Echinococcus granulosus en la provincia de La Rioja, Argentina.

This work was conducted in the province of La Rioja, located in northwestern Argentina. The aim of this study was to estimate the percentage of dog feces showing the presence of antigens of Echinococcus sp. in different regions of the province. A total of 269 samples of dried canine stool were taken, which were analyzed by the copro-ELISA technique. The most affected area was zone IV, which had 30.5% of positive samples. Zone I corresponding to the Capital Department of the province had 12% of positivity. In other areas, the percentages ranged between 11.4% and 14.8%. This is the first study in the province of La Rioja on the existence of this disease in dogs. The lack of control strategies has allowed the spread of echinococcosis.

Variantes alélicas de CYP2D6: *4, *6 y *10 en una muestra de residentes del estado Aragua, Venezuela / Allelic variants of the CYP2D6: *4, *6 and *10 in a sample of resident from the Aragua state, Venezuela

El objetivo del estudio fue determinar la frecuencia de las variantes del gen CYP2D6: *4, *6 y *10 y predecir el fenotipo metabolizador en una muestra de 145 individuos no consanguíneos, aparentemente sanos, residentes del estado Aragua, Venezuela. Los genotipos fueron determinados mediante ensayos de reacción en cadena de la polimerasa seguidos de digestión con endonucleasas de restricción. La predicción del fenotipo metabolizador se realizó con base al sistema Activity score. Las frecuencias de CYP2D6 *4, *6 y *10 fueron de 14,5%, 0,3% y 1%, respectivamente; un porcentaje significativo de individuos fueron categorizados como metabolizador rápido heterocigoto/metabolizador intermedio (23,5%) y metabolizador lento (4,1%). Esta información tiene impacto clínico potencial, porque CYP2D6 interviene en el metabolismo de fármacos de prescripción frecuente como: carvedilol, captopril, cloroquina, codeína, fluoxetina, fluvastatina, haloperidol, idarrubicina, indinavir, imatinib, loperamida, nifedipina, ondansetrón y tamoxifeno...

The aim of this study was to determine the CYP2D6: * 4, * 6 and * 10 gene variants frequency and to predict the metabolizer phenotype in a sample of 145 unrelated apparently healthy individuals residing in the state of Aragua, Venezuela. Genotypes were determined by Polymerase chain reaction assays followed by restriction endonucleases digestion. The metabolizer phenotype prediction was made based on the activity score system. The frequencies of CYP2D6 * 4, * 6 and * 10 allelic variants were 14.5%, 0.3% and 1%. A significant percentage of individuals were categorized as heterozygote-extensive/intermediate (23.5%) and poor metabolizers (4.1%), this information has potential clinical impact, because the CYP2D6 protein is involved in the metabolism of drugs frequently prescribed as: carvedilol, captopril, chloroquine, codeine, fluoxetine, fluvastatin, haloperidol, idarubicin, indinavir, imatinib, loperamide, nifedipine, ondansetron and tamoxifen...

Alteraciones de la diferenciación sexual en pacientes de las regiones Capital y centro occidental de Venezuela / Disorders of sexual differentiation in patiens from the capital and west Center Regions of Venezuela

Las alteraciones de la diferenciación sexual (ADS) son patologías originadas por trastornos en una de las tres etapas sucesivas de dicha diferenciación: cromosómica (XX, XY), gonadal (testículo, ovario) o fenotípica. El objetivo del trabajo fue dar a conocer la forma de presentación de las ADS en pacientes provenientes de las regiones Capital y Centro Occidental de Venezuela. Se incluyeron diecisiete pacientes y se elaboraron los árboles genealógicos, se realizó evaluación clínica, estudios hormonales, citogenéticos, imagenología y determinación de marcadores del gen SRY y microsatélites del cromosoma Y. En función de la evaluación clínica y los datos obtenidos de los exámenes practicados, se efectuaron los diagnósticos siguientes: a) Doce corresponden a ADS 46,XX , de los cuales siete pacientes tienen ADS por exceso de andrógenos, un caso con reversión sexual, un ADS ovotesticular, un caso con síndrome malformativo, uno con disgenesia gonadal y uno con hipogonadismo, b) Cuatro presentan ADS 46,XY (un paciente con síndrome de Smith-Lemli-Opitz II, uno con síndrome malformativo y dos casos con hipogonadísmo), c) Un caso de ADS por alteración cromosómica 46,XXY (síndrome de Klinefelter). En relación a la edad de la primera consulta, la mayor parte (47,1%) se realizó en menores de 5 años, referidos por ambigüedad sexual con necesidad de resolver la identificación del sexo; en la pubertad los pacientes consultan por alteraciones en los caracteres sexuales secundarios y amenorrea (adolescentes); en la adultez por infertilidad. Los resultados permitieron realizar un mejor asesoramiento genético y contribuir a mejorar la calidad de vida de los pacientes y sus grupos familiares.

Disorders of sexual differentiation (DSD) are pathologies characterized by an atypical development of chromosomal (XX, XY) gonadal (testis, ovary) or phenotypical sex. The objective of this work was to inform the presentation forms of SDS in patients from the Capital and West Center regions of Venezuela. Seventeen patients were included and the pedigrees, clinical evaluation, hormonal studies, cytogenetic, imaging and identification of SRY gene markers and Y chromosome microsatellites were made. Depending on the clinical evaluation and data from examinations carried out, the following diagnoses were made: a)Twelve patients correspond to DSD 46, XX, of which seven patients have DSD by androgen excess, a case with sex reversal a ovotesticular DSD, a case with malformation syndrome, one with gonadal dysgenesis and one hypogonadism; b) Four patients presented DSD 46, XY (a patient with Smith-Lemli-Opitz syndrome II, one malformation syndrome and two cases with hypogonadism) c) A case of ADSs by chromosomal abnormality 46,XXY (Klinefelter syndrome). In relation to age of first consultation, the majority (47.1%) was performed in children under 5 years, referred by sexual ambiguity with need to address sex identification. In puberty, the patients consult due to alterations in secondary sexual characteristics and amenorrhea in teenagers, in adulthood due to infertility. The results helped to make a better genetic counseling and to improve the quality of life of patients and their families.

Asociación entre presencia del virus del papiloma humano y hallazgos anatomo-patológicos / Association between the presence of human papilloma virus and pathological findings

OBJETIVO: Determinar por reacción en cadena de la polimerasa la presencia del virus del papiloma humano en pacientes femeninas, quienes acudieron a un tamizaje de lesiones en cuello uterino en la red ambulatoria del Municipio Francisco Linares Alcántara (Edo. Aragua) y asociar la presencia de virus del papiloma humano con hallazgos anatomo-patológicos. MÉTODOS: Luego de obtener el consentimiento informado se tomó una muestra de hisopado vaginal a 301 pacientes, a quienes se les realizó citología y colposcopia. Se aisló ADN para la genotipificación mediante ensayos de reacción en cadena de la polimerasa acoplados a digestión con enzimas de restricción. Se efectuaron pruebas estadísticas para analizar la relación entre la presencia de virus del papiloma humano y las variables: edad, inicio de relaciones sexuales, número de parejas sexuales y hallazgos citológicos y colposcópicos. RESULTADOS: Se obtuvieron 43 muestras positivas para virus del papiloma humano 17 fueron 16 (39,53.%), 3 virus del papiloma humano 18 (6,98 %), 1 virus del papiloma humano 33 (2,33 %), 14 muestras presentaron coinfección (32,56 %) y en 8 muestras (18,60 %) no ocurrió digestión con las enzimas utilizadas. Existen relaciones estadísticas significativas entre la presencia de virus del papiloma humano y las variables analizadas. CONCLUSIÓN: La presencia de genotipos de alto riesgo en el 48,84 % de las pacientes con virus del papiloma humano, es una situación preocupante, dada la vinculación de dichos genotipos al desarrollo de cáncer de cuello uterino

OBJECTIVE: To determine by Polymerase Chain Reaction the presence of the human papillomavirus in female patients attending a screening for lesions of uterine neck in the outpatient network of Francisco Linares Alcantara Municipality and to relate the results to anatomopathological findings. METHODS: After obtaining informed consent from patients, samples of vaginal swabs were taken from 301 women that were used for cytology and colposcopy studies. Also, DNAs were isolated and they were used for Polymerase Chain Reaction test coupled to restriction enzyme digestion. Statistical tests were performed to analyze the relationship between the human papillomavirus positivity and the variables: stratus age, the onset of sexual activity, number of sexual couple, cytology and colposcopy findings. RESULTS: Out of 43 human papillomavirus positive samples, 17 (39.53 %) were genotype 16, 3 (6.98 %) genotype 18 and 1 (12.33.%) genotype 33; 14 (32.56 %) samples showed coinfection and 8 (18.60 %), samples were not digested with the restriction enzymes used. The relationship between the presence of human papillomavirus and the others studied variables (stratus age, the onset of sexual activity, number of sexual couple and cytological results) was statistically significant. CONCLUSIONS: The presence of human papillomavirus genotypes, of so-called high risk in the 48.84 % of the women with a positive HPV test is a particular concern, because they are associated with the development of cervical cancer.