Repercusión de la discapacidad intelectual en el funcionamiento familiar

Introducción: En Cuba es insuficiente la socialización de estudios relacionados con la discapacidad intelectual y su impacto en la salud familiar, a pesar de que se registra una tasa de 3,26 discapacitados intelectualmente x 100 habitantes, con la mayor incidencia en Guantánamo. Objetivo: Evaluar la repercusión de la discapacidad intelectual en el funcionamiento de la familia en el Hospital Psiquiátrico Provincial "Luis Ramírez López" de Guantánamo durante el período enero 2020 - enero 2022. Método: Se realizó un estudio cualitativo descriptivo. El universo estuvo conformado por 25 familias (N꓿25) donde uno de sus miembros estuvo diagnosticado con discapacidad intelectual. Se trabajaron variables, tales como: factores socioeconómicos, factores psicológicos, funcionamiento familiar, adaptación social, nivel de repercusión. Se realizaron distribuciones de frecuencia absoluta y relativa en tablas de contingencia. Resultados: Predominaron entre los factores socioeconómicos aquellas familias con problemas en las condiciones materiales del hogar (64 %) y hacinamiento (56 %). En lo psicológico se encontró afectado severamente la planificación de tareas y proyectos de vidas familiares en conjunto (64 %). La funcionalidad familiar se vio afectada por la insuficiente calma ante los problemas (76 %) y la pérdida de comunicación intrafamiliar (72 %). La necesidad de ayuda especializada (100 %) fue la adaptación social más afectada. Conclusiones: La discapacidad intelectual en uno de los miembros de la familia denota falta de aceptación de la comunidad, alejamiento de sus amistades y familiares; la falta de apoyo social impide que el enfermo sea incluido en la comunidad y, en muchas ocasiones, alguno de los padres se ve en la necesidad de dejar su trabajo para poder cuidarlo, lo que repercute en su ingreso familiar.

Introduction: In Cuba, there is an insufficient disclosure of studies in intellectual disability and its impact on family health, despite the fact that the current rate of people with intellectual desability registered is 3.26 per 100 inhabitants, with the highest incidence in Guantánamo province. Objective: To assess the impact of intellectual disability on family functioning, studied period January 2020 to January 2022, at the Hospital Psiquiátrico Provincial "Luis Ramírez López" de Guantánamo. Method: A descriptive qualitative study was carried out. A total of 25 families (N꓿25) were involved in the study, families with one of their members diagnosed with intellectual disability. Variables used: socioeconomic factors, psychological factors, family functioning, social adaptation, level of repercussion. Absolute and relative frequency distributions were performed in contingency tables. Results: Among the socioeconomic factors, families with structural problems in their houses (64%) and overcrowding (56 %) predominated. Psychologically, planning of tasks and family life projects as a whole was severely affected (64%). Family functioning was affected by two aspects, the lack of practical actions to face problems head on (76%) and loss of intra-family communication (72%). The needs of an specialized support (100% of families) was the most affected social adaptation. Conclusions: Intellectual disability in one of the family members denotes a lack of acceptance by the community, alienation from friends and relatives ; the lack of social support prevents the patients from being included in the community and, on many occasions, one of the parents has to quit his or her job to assume the patient´s care, decisions which has deep impact on family incomes.

Introdução: em Cuba, a socialização dos estudos relacionados com a deficiência intelectual e seu impacto na saúde familiar é insuficiente, apesar de se registrar uma taxa de 3,26 deficientes intelectuais por 100 habitantes, com a maior incidência em Guantánamo. Objetivo: avaliar o impacto da deficiência intelectual no funcionamento da família no Hospital Psiquiátrico Provincial "Luis Ramírez López" de Guantánamo durante o período de janeiro de 2020 a janeiro de 2022. Método: estudo qualitativo descritivo. O universo foi constituído por 25 famílias (N꓿25) onde um dos seus membros foi diagnosticado com deficiência intelectual. Variáveis foram trabalhadas, tais como: fatores socioeconômicos, fatores psicológicos, funcionamento familiar, adaptação social, nível de repercussão. As distribuições de frequência absoluta e relativa foram feitas em tabelas de contingência. Resultados: os fatores socioeconômicos predominaram aquelas famílias com problemas nas condições materiais do lar (64%) e superlotação (56%). Psicologicamente, o planejamento de tarefas e projetos de vida familiar como um todo foi bastante afetado (64%). A funcionalidade familiar foi afetada pela calma insuficiente diante dos problemas (76%) e pela perda da comunicação intrafamiliar (72%). A necessidade de ajuda especializada (100%) foi a adaptação social mais prejudicada. Conclusões: a deficiência intelectual em um dos membros da família denota falta de aceitação da comunidade, distanciamento de seus amigos e familiares; a falta de apoio social impede que o paciente se insira na comunidade e, muitas vezes, um dos pais precisa deixar o emprego para poder cuidar dele, o que afeta a renda familiar.

Real-World Safety and Effectiveness Evidence of a Microcrystalline Tyrosine-Associated Mite Allergoid in Children and Adolescents with Allergic Rhinitis

Evidence regarding allergen immunotherapy (AIT) in pediatric population is scarce. We have assessed safety and effectiveness of subcutaneous AIT with a microcrystalline tyrosine (MCT)-associated mite allergoid, Acarovac Plus®, in children and adolescents with allergic rhinitis (AR), with and without asthma, in the real-world setting. This was a retrospective, multicenter study including children and adolescents aged 5 years to 17 years with AR, with and without asthma, and sensitized to mites, receiving AIT with Acarovac Plus® during ≥6 months. Primary and secondary objectives were safety and effectiveness, respectively. Effectiveness variables were assessed during 12 months before and after AIT and included unscheduled visits to the healthcare center and emergency room admissions, rhinitis and asthma symptoms according to ARIA and GEMA classifications, respectively, medication use, and patients’ and physicians’ disease perception graded on a visual analog scale (VAS). All 79 patients included had a mean (SD) age of 12.7 (3.3) years. Two patients experienced systemic adverse reactions (none severe). Unscheduled visits to the healthcare center and emergency room admissions decreased (mean (SD) 3.02 [2.48] and 0.63 [1.35] vs. 1.08 [1.38] and 0.09 [0.38], before and after treatment, p < 0.001 and p = 0.001, respectively). After AIT, rhinitis and asthma classification changed (p < 0.0001 for all classifications), showing improvements in symptoms and a significant decrease in rhinitis and use of medication for asthma and VAS scores grading patients’ and physicians’ disease perception (p < 0.001). In conclusion, these results show that AIT with an MCT-associated mite allergoid appears safe and effective in children and adolescents with AR treated in the real-world setting (AU)

Adherencia terapéutica y conocimientos sobre hipertensión arterial en una muestra de pacientes adultos / Therapeutic adherence and knowledge on hypertension in a sample of adult patients

Introducción: En países desarrollados, las tasas de adherencia a los tratamientos en enfermedades crónicas se sitúan alrededor de 50 %. Objetivo: Evaluar la adherencia terapéutica y los conocimientos sobre hipertensión arterial en pacientes adultos. Métodos: Se efectuó una investigación observacional y analítica de 54 pacientes adultos, de ambos sexos, quienes asistieron a la consulta externa del Hospital Docente Clinicoquirúrgico Joaquín Albarrán Domínguez de Ciudad de la Habana, durante el primer trimestre del 2018. Entre las variables analizadas figuraron: edad, sexo, tratamiento, grado de adherencia terapéutica y conocimientos. Resultados: Predominaron el sexo femenino (53,7 %), el grupo etario de 51-64 años (42,6 %) y el uso de fármacos antihipertensivos, tales como enalapril (50,0 %) y captopril (24,0 %); entre los diuréticos, la clortalidona (44,4 %) en tratamientos combinados (37,0 %). Las combinaciones más utilizadas fueron enalapril/clortalidona (16,7 %) y captopril/clortalidona (13,0 %). El conocimiento sobre su enfermedad fue insatisfactorio (51,9 %); la adherencia terapéutica se produjo en 48,0 % de los afectados, siendo los factores más frecuentes el descuido de la hora (50,0 %) y el olvido (42,9 %). Entre los factores relacionados con la no adherencia primó la polifarmacia (83,3 %) seguida de las dificultades en la obtención del medicamento (72,2 %). Conclusiones: La adherencia terapéutica en los pacientes con hipertensión arterial fue baja y no guardó relación estadística con el conocimiento sobre su enfermedad.

Introduction: In developed countries, the rates of adherence to treatments in chronic diseases are around 50 %. Objective: To evaluate the therapeutic adherence and the knowledge on hypertension in adult patients. Methods: An observational and analytic investigation of 54 adult patients of both sexes , who attended the out-patient service of Joaquín Albarrán Domínguez Teaching Clinical Surgical Hospital in Havana City was carried out during the first trimester of 2018. Among the analyzed variables there were: age, sex, treatment, degree of therapeutic adherence and knowledge. Results: The female sex (53.7 %), the age group 51-64 years (42.6 %) and the use of antihypertensive drugs, such as enalapril (50.0 %) and captopril (24.0 %); among the diuretics, the clortalidona (44.4 %) in treatments combined with 37.0 %, prevailed. The used combinations were enalapril/clortalidona (16.7 %) and captopril/clortalidona (13.0 %). The knowledge on their disease was not satisfactory (51.9 %); the therapeutic adherence took place in 48.0 % of those affected, being the most frequent factors the negligence on time (50.0 %) and forgetting (42.9 %). Among the factors related to the non adherence the polypharmacy prevailed (83.3 %) followed by the difficulties in obtaining of the medication (72.2 %). Conclusions: The therapeutic adherence in patients with hypertension was low and there was no statistical relation with the knowledge on their disease.

Fine-mapping scan of bipolar disorder susceptibility loci in Latino pedigrees.

We previously identified bipolar disorder (BD) susceptibility loci on 8q24, 14q32, and 2q12-14 in a genome-wide nonparametric linkage screen in a Latino cohort. We now perform a fine mapping analysis using a dense map of additional SNPs to identify BD susceptibility genes within these regions. One thousand nine hundred and thirty-eight individuals with Latino ancestry (880 individuals with BD Type I or Schizoaffective, Bipolar Type) from 416 Latino pedigrees from the United States, Mexico, Costa Rica, and Guatemala were genotyped with 3,074 SNPs to provide dense coverage of the 8q24 (11.5 cM), 14q32 (7.5 cM), and 2q12-14 (6.5 cM) chromosomal loci. Single-marker association tests in the presence of linkage were performed using the LAMP software. The top linkage peak (rs7834818; LOD = 5.08, p = 3.30E - 5) and associated single marker (rs2280915, p = 2.70E - 12) were located within FBXO32 on 8q24. On chromosome 2, the top linkage peak (rs6750326; LOD = 5.06, p = 3.50E - 5) and associated single marker (rs11887088, p = 2.90E - 6) were located in intragenic regions near ACTR3 and DPP10. None of the additional markers in the region around chromosome 14q32 met significance levels for linkage or association. We identified six SNPs on 2q12-q14 and one SNP in FBXO32 on 8q24 that were significantly associated with BD in this Latino cohort.

Uso de plantas medicinales como tranquilizante en la parroquia Marcos Espinel del cantón Santiago de Pillaro / Use of medicinal plants as a tranquilizer in the parish of Marcos Espinel del cantón Santiago de Pillaro

Desde épocas remotas, el hombre ha utilizado plantas medicinales para curar sus enfermedades, de ahí que con el paso del tiempo se ha creado todo un conocimiento de remedios vegetales que han constituido la base de la medicina moderna. Por ello la presente investigación tuvo el objetivo de caracterizar el uso de plantas medicinales con efecto tranquilizante en la Parroquia de Marcos Espinel del Cantón Santiago de Píllaro. Para el desarrollo del proyecto se realiza mediante un estudio con enfoque cuantitativo, observacional y descriptiva que incluyó a 234 personas de la Parroquia Marcos Espinel del Cantón Santiago de Píllaro a quienes se les aplicó una encuesta para conocer el tipo de plantas medicinales que son más utilizadas como efecto tranquilizante. La investigación permitió concluir que las plantas más utilizadas por sus efectos tranquilizantes son: el toronjil con el 47%, la valeriana 13%, manzanilla 13% y el cedrón 8%, el modo de administración más frecuente es la infusión con un 92.3% y que en la Parroquia Marcos Espinel el 80% de habitantes reconoce que las plantas medicinales poseen un efecto tranquilizante eficaz para el alivio o reducción de la ansiedad, desesperación, susto o insomnio. (AU)

Nivel de conocimientos clínico-epidemiológicos de la leptospirosis en estudiantes / Level of clinical-epidemiological knowledge of leptospirosis in students

Introducción: la incidencia de leptospirosis se ha elevado en los últimos años en la provincia de Guantánamo. Objetivo: caracterizar el comportamiento del conocimiento sobre las características clínico-epidemiológicas de la leptospirosis en los estudiantes de la carrera de Higiene y Epidemiología de la Facultad de Ciencias Médicas Guantánamo. Método: se realizó un estudio descriptivo de corte transversal durante el periodo comprendido entre abril de 2016 hasta marzo de 2017. El universo estuvo constituido por 380 estudiantes y se tomó una muestra de 114. Se estudiaron variables, tales como: nivel de conocimientos sobre concepto, vías de transmisión y medidas de prevención de la leptospirosis. Para el desarrollo de este trabajo se utilizaron métodos teóricos, empíricos y matemáticos entre los que se encuentra el histórico-lógico, análisis-síntesis, inductivo-deductivo, sistémico estructural y funcional, análisis de documentos, la encuesta, criterios de especialistas, entre otros. Resultados: se encontró un predominio de mediano conocimiento en los estudiantes encuestados sobre el concepto de leptospirosis y nivel de conocimiento sobre las vías de transmisión, en cuanto a las medidas de prevención el resultado general fue de bajo conocimientos. Conclusiones: se concluyó que los estudiantes del estudio no poseen los conocimientos suficientes acerca de la leptospirosis, por lo que resulta necesaria la pronta realización de acciones para evitar esta problemática()AU

Introduction: the incidence of leptospirosis has increased in the province of Guantanamo in recent years. Objective: to characterize the behavior of knowledge about the clinical-epidemiological characteristics of leptospirosis in the students of the Hygiene and Epidemiology career of the Faculty of Medical Sciences Guantanamo. Method: a cross-sectional descriptive study was carried out during from April 2016 to March 2017. The universe consisted of 380 students and a sample of 114 was taken. Variables were studied, such as: level of knowledge about the concept, transmission routes and measures for the prevention of leptospirosis. For the development of this work, theoretical, empirical and mathematical methods were used, including historical-logical, analysis-synthesis, inductive-deductive, structural and functional systemic, document analysis, survey, specialist criteria, among others. Results: a predominance of low knowledge was found in the students surveys about the concept of leptospirosis and level of knowledge about the transmission routes, in terms of prevention measures, the general result was low knowledge. Conclusions: it was concluded that the students of the study do not have sufficient knowledge about leptospirosis, so it is necessary to carry out emergent actions to avoid this problem(AU)

Nivel de conocimientos clínico-epidemiológicos de la leptospirosis en estudiantes / Level of clinical-epidemiological knowledge of leptospirosis in students

Introducción: la incidencia de leptospirosis se ha elevado en los últimos años en la provincia de Guantánamo. Objetivo: caracterizar el comportamiento del conocimiento sobre las características clínico-epidemiológicas de la leptospirosis en los estudiantes de la carrera de Higiene y Epidemiología de la Facultad de Ciencias Médicas Guantánamo. Método: se realizó un estudio descriptivo de corte transversal durante el periodo comprendido entre abril de 2016 hasta marzo de 2017. El universo estuvo constituido por 380 estudiantes y se tomó una muestra de 114. Se estudiaron variables, tales como: nivel de conocimientos sobre concepto, vías de transmisión y medidas de prevención de la leptospirosis. Para el desarrollo de este trabajo se utilizaron métodos teóricos, empíricos y matemáticos entre los que se encuentra el histórico-lógico, análisis-síntesis, inductivo-deductivo, sistémico estructural y funcional, análisis de documentos, la encuesta, criterios de especialistas, entre otros. Resultados: se encontró un predominio de mediano conocimiento en los estudiantes encuestados sobre el concepto de leptospirosis y nivel de conocimiento sobre las vías de transmisión, en cuanto a las medidas de prevención el resultado general fue de bajo conocimientos. Conclusiones: se concluyó que los estudiantes del estudio no poseen los conocimientos suficientes acerca de la leptospirosis, por lo que resulta necesaria la pronta realización de acciones para evitar esta problemática(AU)

Introduction: the incidence of leptospirosis has increased in the province of Guantanamo in recent years. Objective: to characterize the behavior of knowledge about the clinical-epidemiological characteristics of leptospirosis in the students of the Hygiene and Epidemiology career of the Faculty of Medical Sciences Guantanamo. Method: a cross-sectional descriptive study was carried out during from April 2016 to March 2017. The universe consisted of 380 students and a sample of 114 was taken. Variables were studied, such as: level of knowledge about the concept, transmission routes and measures for the prevention of leptospirosis. For the development of this work, theoretical, empirical and mathematical methods were used, including historical-logical, analysis-synthesis, inductive-deductive, structural and functional systemic, document analysis, survey, specialist criteria, among others. Results: a predominance of low knowledge was found in the students surveys about the concept of leptospirosis and level of knowledge about the transmission routes, in terms of prevention measures, the general result was low knowledge. Conclusions: it was concluded that the students of the study do not have sufficient knowledge about leptospirosis, so it is necessary to carry out emergent actions to avoid this problem(AU)

Intervención educativa para la prevención de trichomonosis vaginal en estudiantes de Medicina

Se realizó una intervención educativa en la Universidad de Ciencias Médicas de Guantánamo, para elevar el nivel de conocimiento sobre la trichomonosis vaginal y su prevención. La población de estudio estuvo constituida por 45 estudiantes del segundo año de la carrera de Medicina, la muestra en este caso coincide con la población. Se utilizaron métodos teóricos, empíricos y matemáticos entre los que se encuentra: el histórico lógico, el análisis, el sistémico estructural funcional, el análisis de documentos, la encuesta entre otros. Entre las variables analizadas se encontraron: edad, sexo, nivel de conocimiento sobre Trichomonosis vaginal y su modo de prevención. Se obtuvo el incremento significativo del nivel de conocimiento sobre trichomonosis vaginal, la necesidad de tener percepción del riesgo y llevar adelante labores de promoción y prevención de las ITS, generalizando este estudio en otras áreas del municipio(AU)

An educational intervention was carried out at the University of Medical Sciences of Guantánamo to raise the level of knowledge about vaginal trichomonosis and its prevention. The study population consisted of 45 students of the second year of the Medicine career, the sample in this case coincides with the population. Theoretical, empirical and mathematical methods were used: logical history, analysis, functional structural systemic, document analysis, and others. Among the analyzed variables: age, sex, level of knowledge about vaginal Trichomonosis and its mode of prevention. There was a significant increase in the level of knowledge about vaginal Trichomonosis, the need to have risk perception and to carry out work to promote and prevent STIs, generalizing this study in other areas of the municipality(AU)

Características clínico-epidemiológicas de influenza A(H1N1). multimedia / Clinical-epidemiological characteristics of influenza A (H1N1). multimedia

Se realizó una investigación tecnológica con el objetivo de diseñar una multimedia que permita elevar el nivel de conocimiento sobre las características clínico-epidemiológicas de la influenza AH1N1 en los estudiantes de tercer año de la carrera de Rehabilitación en Salud de la Filial de Ciencias Médicas de Guantánamo. Se utilizaron métodos teóricos, histórico-lógicos, análisis-síntesis, inductivos-deductivos, sistémicos y funcionales, análisis de documentos, además de los empíricos. Se evidenció el desconocimiento de los estudiantes sobre las características de la enfermedad. Se aportó una multimedia aceptada desde su estructura, posibilidades metodológicas y factibilidad de aplicación en cualquier población. Se emiten conclusiones y recomendaciones(AU)

A technological research was carried out with the aim of designing a multimedia that allows raising the level of knowledge about the clinical and epidemiological characteristics of influenza A (H1N1) in the third year of the career of Rehabilitation in Health at the Medical Science Filial. It is used theoretical methods, historical-logical, analysis-synthesis, inductive-deductive, systemic -functional and document analysis, in addition to empirical ones. It was evidenced the ignorance of the students about the characteristics of the illness. It was presented a multimedia which was accepted from its structure, methodological possibilities and feasibility of application in any population. Conclusions and recommendations are issued(AU)

Replication of genome-wide association study (GWAS) susceptibility loci in a Latino bipolar disorder cohort.

OBJECTIVES: Recent genome-wide association studies (GWASs) have identified numerous putative genetic polymorphisms associated with bipolar disorder (BD) and/or schizophrenia (SC). We hypothesized that a portion of these polymorphisms would also be associated with BD in the Latino American population. To identify such regions, we tested previously identified genetic variants associated with BD and/or SC and ancestral haploblocks containing these single nucleotide polymorphisms (SNPs) in a sample of Latino subjects with BD. METHODS: A total of 2254 Latino individuals were genotyped for 91 SNPs identified in previous BD and/or SC GWASs, along with selected SNPs in strong linkage disequilibrium with these markers. Family-based single marker and haplotype association testing was performed using the PBAT software package. Empirical P-values were derived from 10 000 permutations. RESULTS: Associations of eight a priori GWAS SNPs with BD were replicated with nominal (P≤.05) levels of significance. These included SNPs within nuclear factor I A (NFIA), serologically defined colon cancer antigen 8 (SDCCAG8), lysosomal associated membrane protein 3 (LAMP3), nuclear factor kappa B subunit 1 (NFKB1), major histocompatibility complex, class I, B (HLA-B) and 5'-nucleotidase, cytosolic II (NT5C2) and SNPs within intragenic regions microRNA 6828 (MIR6828)-solute carrier family 7 member 14 (SLC7A14) and sonic hedgehog (SHH)-long intergenic non-protein coding RNA 1006 (LINC01006). Of the 76 ancestral haploblocks that were tested for associations with BD, our top associated haploblock was located in LAMP3; however, the association did not meet statistical thresholds of significance following Bonferroni correction. CONCLUSIONS: These results indicate that some of the gene variants found to be associated with BD or SC in other populations are also associated with BD risk in Latinos. Variants in six genes and two intragenic regions were associated with BD in our Latino sample and provide additional evidence for overlap in genetic risk between SC and BD.

Confirmation of MRI anatomical measurements as endophenotypic markers for bipolar disorder in a new sample from the NIMH Genetics of Bipolar Disorder in Latino Populations study.

The main objective of this study is to establish potential neuromorphometric differences which might act as markers of genetic risk for bipolar disorder and therefore serve as endophenotypes for discovery of genes that contribute to bipolar disorder. Magnetic resonance imaging (MRI) was used to assess structural brain volumes of 49 subjects. Volumetric analyses were first performed to test possible differences in the volume of brain structures between subjects with bipolar disorder type I (BPI) and control subjects in a new sample, based on regions previously reported in the literature as being either increased or decreased in size in bipolar patients. Subsequently, for those brain regions showing statistical difference between subjects with BPI and control subjects in our new sample, we tested whether unaffected first degree relatives (UFRs) of the BPI subjects also showed similar differences compared with controls. Four specific regions (right prefrontal, right middle prefrontal, right globus pallidus and left globus pallidus) met criteria for being possible endophenotypes for BPI in this sample.

Identification of circadian gene variants in bipolar disorder in Latino populations.

BACKGROUND: Variations in circadian genes can impact biological rhythms. Given the rhythm disturbances that characterize bipolar disorder (BD), genes encoding components of molecular clocks are good candidate genes for the illness. METHODS: A family based association analysis of circadian gene single nucleotide polymorphisms (SNPs) and BD was conducted in Latino pedigrees. 884 individuals from 207 pedigrees (473BP phenotype and 411 unaffected family members) were genotyped. Family based single marker association testing was performed. Ancestral haplotypes (SNPs found to be in strong LD defined using confidence intervals) were also tested for association with BD. RESULTS: Multiple suggestive associations between circadian gene SNPs and BD were noted. These included CSNK1E (rs1534891, p=0.00689), ARNTL (rs3789327, p=0.021172), CSNK1D (rs4510078, p=0.022801), CLOCK (rs17777927, p=0.031664). Individually, none of the SNPs were significantly associated with BD after correction for multiple testing. However, a 4-locus CSNK1E haplotype encompassing the rs1534891 SNP (Z-score=2.685, permuted p=0.0076) and a 3-locus haplotype in ARNTL (Z-score=3.269, permuted p=0.0011) showed a significant association with BD. LIMITATIONS: Larger samples are required to confirm these findings and assess the relationship between circadian gene SNPs and BD in Latinos. CONCLUSIONS: The results suggest that ARNTL and CSKN1E variants may be associated with BD. Further studies are warranted to assess the relationships between these genes and BD in Latino populations.

Genome-wide methylome analyses reveal novel epigenetic regulation patterns in schizophrenia and bipolar disorder.

Schizophrenia (SZ) and bipolar disorder (BP) are complex genetic disorders. Their appearance is also likely informed by as yet only partially described epigenetic contributions. Using a sequencing-based method for genome-wide analysis, we quantitatively compared the blood DNA methylation landscapes in SZ and BP subjects to control, both in an understudied population, Hispanics along the US-Mexico border. Remarkably, we identified thousands of differentially methylated regions for SZ and BP preferentially located in promoters 3'-UTRs and 5'-UTRs of genes. Distinct patterns of aberrant methylation of promoter sequences were located surrounding transcription start sites. In these instances, aberrant methylation occurred in CpG islands (CGIs) as well as in flanking regions as well as in CGI sparse promoters. Pathway analysis of genes displaying these distinct aberrant promoter methylation patterns showed enhancement of epigenetic changes in numerous genes previously related to psychiatric disorders and neurodevelopment. Integration of gene expression data further suggests that in SZ aberrant promoter methylation is significantly associated with altered gene transcription. In particular, we found significant associations between (1) promoter CGIs hypermethylation with gene repression and (2) CGI 3'-shore hypomethylation with increased gene expression. Finally, we constructed a specific methylation analysis platform that facilitates viewing and comparing aberrant genome methylation in human neuropsychiatric disorders.

Scalable nanohelices for predictive studies and enhanced 3D visualization.

Spring-like materials are ubiquitous in nature and of interest in nanotechnology for energy harvesting, hydrogen storage, and biological sensing applications. For predictive simulations, it has become increasingly important to be able to model the structure of nanohelices accurately. To study the effect of local structure on the properties of these complex geometries one must develop realistic models. To date, software packages are rather limited in creating atomistic helical models. This work focuses on producing atomistic models of silica glass (SiO2) nanoribbons and nanosprings for molecular dynamics (MD) simulations. Using an MD model of "bulk" silica glass, two computational procedures to precisely create the shape of nanoribbons and nanosprings are presented. The first method employs the AWK programming language and open-source software to effectively carve various shapes of silica nanoribbons from the initial bulk model, using desired dimensions and parametric equations to define a helix. With this method, accurate atomistic silica nanoribbons can be generated for a range of pitch values and dimensions. The second method involves a more robust code which allows flexibility in modeling nanohelical structures. This approach utilizes a C++ code particularly written to implement pre-screening methods as well as the mathematical equations for a helix, resulting in greater precision and efficiency when creating nanospring models. Using these codes, well-defined and scalable nanoribbons and nanosprings suited for atomistic simulations can be effectively created. An added value in both open-source codes is that they can be adapted to reproduce different helical structures, independent of material. In addition, a MATLAB graphical user interface (GUI) is used to enhance learning through visualization and interaction for a general user with the atomistic helical structures. One application of these methods is the recent study of nanohelices via MD simulations for mechanical energy harvesting purposes.

A genome-wide linkage scan of bipolar disorder in Latino families identifies susceptibility loci at 8q24 and 14q32.

A genome-wide nonparametric linkage screen was performed to localize Bipolar Disorder (BP) susceptibility loci in a sample of 3757 individuals of Latino ancestry. The sample included 963 individuals with BP phenotype (704 relative pairs) from 686 families recruited from the US, Mexico, Costa Rica, and Guatemala. Non-parametric analyses were performed over a 5 cM grid with an average genetic coverage of 0.67 cM. Multipoint analyses were conducted across the genome using non-parametric Kong & Cox LOD scores along with Sall statistics for all relative pairs. Suggestive and significant genome-wide thresholds were calculated based on 1000 simulations. Single-marker association tests in the presence of linkage were performed assuming a multiplicative model with a population prevalence of 2%. We identified two genome-wide significant susceptibly loci for BP at 8q24 and 14q32, and a third suggestive locus at 2q13-q14. Within these three linkage regions, the top associated single marker (rs1847694, P = 2.40 × 10(-5)) is located 195 Kb upstream of DPP10 in Chromosome 2. DPP10 is prominently expressed in brain neuronal populations, where it has been shown to bind and regulate Kv4-mediated A-type potassium channels. Taken together, these results provide additional evidence that 8q24, 14q32, and 2q13-q14 are susceptibly loci for BP and these regions may be involved in the pathogenesis of BP in the Latino population.

Lepra: generalidades / Leprosy: overview

Se realiza una revisión bibliográfica con el propósito de ofrecer algunas consideraciones acerca de la epidemiológica, diagnóstico, tratamiento y prevención, para el adecuado manejo de la lepra y con ello enfrentar su eliminación, reduciendo su incidencia con un accionar temprano y con la mayor percepción del riesgo no solo por parte de la población sino también del personal de salud. Se hace referencia a la educación sanitaria sobre la lepra y su modo de prevención, así como su forma clínica, grupos de riesgos, factores epidemiológicos. Se analiza su tratamiento, recidiva entre otros factores relacionados con la enfermedad de baja prevalencia, pero no erradicada y que afecta el nivel y calidad de vida de la población la que debe solucionar sus propios problemas o situaciones haciendo uso de los conceptos previos que posee y apropiándose de nuevos conocimientos, por medio de un aprendizaje significativo y perdurable también del personal de salud(AU)

A bibliographical review was performed in order to offer some considerations about the epidemiological, diagnostic, treatment and prevention for the proper management of leprosy and thus face elimination, reducing its incidence with early actions and eliminating perception of risk not only by the people but also of health workers. Making references to the health education about leprosy and its prevention ways, its clinical form, risk groups and epidemiological factors. The Treatment is analyzed relapse among other factors related to the disease of low prevalence, but not eliminated affecting level and quality of life of the population that should solve their own problems or situations using the previous concepts that own and appropriating new knowledges through significant learning and enduring in health workers

Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study.

OBJECTIVES: Through recent genome-wide association studies (GWASs), several groups have reported significant association between variants in the calcium channel, voltage-dependent, L-type, alpha 1C subunit (CACNA1C) and bipolar disorder (BP) in European and European-American cohorts. We performed a family-based association study to determine whether CACNA1C is associated with BP in the Latino population. METHODS: This study included 913 individuals from 215 Latino pedigrees recruited from the USA, Mexico, Guatemala, and Costa Rica. The Illumina GoldenGate Genotyping Assay was used to genotype 58 single-nucleotide polymorphisms (SNPs) that spanned a 602.9-kb region encompassing the CACNA1C gene including two SNPs (rs7297582 and rs1006737) previously shown to associate with BP. Individual SNP and haplotype association analyses were performed using Family-Based Association Test (version 2.0.3) and Haploview (version 4.2) software. RESULTS: An eight-locus haplotype block that included these two markers showed significant association with BP (global marker permuted p = 0.0018) in the Latino population. For individual SNPs, this sample had insufficient power (10%) to detect associations with SNPs with minor effect (odds ratio = 1.15). CONCLUSIONS: Although we were not able to replicate findings of association between individual CACNA1C SNPs rs7297582 and rs1006737 and BP, we were able to replicate the GWAS signal reported for CACNA1C through a haplotype analysis that encompassed these previously reported significant SNPs. These results provide additional evidence that CACNA1C is associated with BP and provides the first evidence that variations in this gene might play a role in the pathogenesis of this disorder in the Latino population.

Psychiatric syndromes in individuals with chromosome 18 abnormalities.

Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions.

Molecular detection and identification of Aspergillus spp. from clinical samples using real-time PCR.

The definite and rapid diagnosis of invasive aspergillosis is necessary because of the high mortality caused. The objective of this study was to evaluate a real-time PCR assay to detect Aspergillus spp. in clinical samples, based on the Light Cycler technology. Specificity was assessed by using DNA extracted from pathogenic and non-pathogenic bacteria/fungi from Spanish Collection including: two Aspergillus flavus, four Aspergillus fumigatus, two Aspergillus nidulans, two Aspergillus niger and two Aspergillus terreus isolates. The analytical sensitivity was evaluated with different inocula (10(1)-10(5) conidia ml(-1)), and serially diluted DNA of A. fumigatus. To assess clinical applicability, samples from patients at risk were analysed. Species identification was determined by analysing the melting curves. Reactions using genomic DNA from other species of different genera than Aspergillus were negative (specificity: 100%). Analytical sensitivity was 60 fg using DNA and 5-20 conidia using conidial suspensions. The linear range was from 60 to 6 x 10(7) fg. The Tm ranged from 67.34 to 70.7 degrees C for the different Aspergillus spp. studied. Nine hundred and forty-eight consecutive blood samples from 127 patients were processed. In total, 10 (1%) of 948 samples from blood samples were PCR-positive. The real-time PCR assay provides a high sensitivity and specificity for detection of fungal DNA and rapidly identifies most of clinically relevant Aspergillus species.