[Diagnostic significance of C4d in membranous nephropathy]. / Importancia diagnóstica del C4d en la nefropatía membranosa.

INTRODUCTION: Membranous nephropathy (MN) is the most common cause of primary nephrotic syndrome in adults (20-30%). Light microscopy shows thickening of glomerular basement membrane with appearance of spikes. These histological findings are not evident in early forms, in which case the granular deposition pattern of IgG and/or C3 in the basement membrane by immunofluorescence (IF) constitutes the diagnostic tool that allows to differentiate it from minimal change disease (MCD). Complement system plays a key role in the pathophysiology of MN. C4d is a degradation product and a marker of the complement system activation. C4d labelling by immunohistochemical (HI) technique can help in the differential diagnosis between both glomerulopathies NM and MCD when the material for IF is insufficient and light microscopy is normal. Our objective was to explore the discrimination power of C4d to differentiate between MN and MCD in renal biopsy material. METHODS: Paraffin-embedded samples were recovered from renal biopsies with a diagnosis of MN and MCD performed between 1/1/2008 and 4/1/2019. IH staining was performed by immunoperoxidase technique using a rabbit anti-human C4d polyclonal antibody. RESULTS: In all cases with MN (n = 27, 15 males) with a median age of 63 (range: 18-87) years, C4d deposits were detected. In 21 cases with MCD (12 males) with a median age of 51 (range: 18-87) years, the C4d marking was negative in every samples. CONCLUSION: The results indicate that the marking of the renal biopsy with C4d is a useful tool for the differential diagnosis between NM and MCD.

Introducción: La nefropatía membranosa (NM) es la causa más frecuente de síndrome nefrótico primario en adultos (20-30%). En la microscopia óptica se observa engrosamiento de membrana basal glomerular con aparición de espigas. Estos hallazgos histológicos no son evidentes en formas tempranas, en cuyo caso el patrón de depósito granular de IgG y/o C3 en la membrana basal por inmunofluorescencia (IF) permite diferenciarla de enfermedad por cambios mínimos (ECM). El sistema del complemento juega un papel central en la fisiopatología de la NM. C4d es producto de degradación y un marcador de la activación del complemento. La marcación con C4d en muestras de biopsias renales, por técnica de inmunohistoquímica (IH) puede colaborar en el diagnóstico diferencial entre ambas glomerulopatías. Nuestro objetivo fue explorar el poder de discriminación del C4d para diferenciar NM de ECM en material de biopsias renales. Métodos: Se recuperaron muestras en parafina de biopsias renales con diagnóstico de NM y ECM realizados entre 1/1/2008 y 1/4/2019. Se realizaron tinciones de IH por técnica de inmunoperoxidasa con C4d usando un anticuerpo policlonal antihumano de conejo. Resultados: En todos los casos con NM (n = 27, 15 hombres) con mediana de edad de 63 (rango: 18-86) años se detectaron depósitos de C4d. En los 21 casos con ECM (12 hombres) con mediana de edad de 51 (rango: 18-87) años la marcación de C4d fue negativa. Conclusión: Los resultados indican que la marcación de la biopsia renal con C4d es una herramienta útil para el diagnóstico diferencial entre NM y ECM.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Alzheimer's disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants2. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals-16,036 AD cases and 16,522 controls. Next to variants in TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Additionally, the rare-variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential drivers of respective AD-genome-wide association study loci. Variants associated with the strongest effect on AD risk, in particular loss-of-function variants, are enriched in early-onset AD cases. Our results provide additional evidence for a major role for amyloid-ß precursor protein processing, amyloid-ß aggregation, lipid metabolism and microglial function in AD.

El acoso sexual en la universidad: la visión del alumnado / Sexual harassment in the university: The students' visión

Resumen Introducción/objetivo: El acoso sexual es una de las violencias que más debe preocupar a la comunidad educativa, por ello, el objetivo de este estudio consiste en analizar los conocimientos, las percepciones y las actitudes de los y las estudiantes universitarios hacia el acoso sexual. Método: Desde un enfoque cualitativo se han realizado diez entrevistas individuales a estudiantes (seis alumnas y cuatro alumnos) y ocho grupos de discusión heterogéneos formados por 67 estudiantes. Todos pertenecientes a una universidad de carácter público situada en el noroeste de España. Resultados: El alumnado tiene pocos conocimientos sobre el acoso sexual y, además, no recibe formación que le otorgue las herramientas que le permitan identificarlo y combatirlo. Asimismo, la mayoría de los/as participantes expresa que el acoso sexual es habitual en el entorno académico, pero que está invisibilizado. A través de sus propias palabras se identifica que perciben actitudes permisivas hacia el acoso sexual por parte de los/as docentes y de la universidad, considerando que no hay una verdadera implicación para intervenir en las situaciones de acoso. Conclusiones: Es necesario que la universidad se comprometa a implementar estrategias de prevención e intervención, con el propósito de identificar, sancionar y erradicar todas y cada una de las formas de violencia, incluido el acoso sexual.

Abstract Introduction/objective: Sexual harassment is one of the types of violence that should most concern the educational community, consequently, the objective of this study is to analyze the knowledge, perceptions and attitudes of university students towards sexual harassment. Method: From a qualitative approach, ten individual interviews were carried out with students (six female students and four male students) and eight heterogeneous discussion groups made up of 67 students. All of them belong to a public university located in the northwest of Spain. Results: The students have little knowledge about sexual harassment and, in addition, they do not receive training that gives them the tools that allow them to identify and combat it. Likewise, most of the participants express that sexual harassment is common in the academic environment, but that it is invisible. Through their own words, it is identified that they perceive permissive attitudes towards sexual harassment on the part of teachers and the university, considering that there is no real implication to intervene in harassment situations. Conclusions: It is necessary for the university to commit to implement prevention and intervention strategies, in order to identify, punish and eradicate each and every one of the forms of violence, including sexual harassment.

Mortalidad de la insuficiencia renal aguda con requerimiento de hemodiálisis en unidades de terapia intensiva / Mortality of acute renal failure requiring hemodialysis in intensive care units

RESUMEN Introducción: La insuficiencia renal aguda en pacientes internados en unidades de terapia intensiva es frecuente y se asocia con alta mortalidad. El objetivo del trabajo fue identificarfactores relacionados con mortalidad en pacientes internados en unidades de terapia intensiva con insuficiencia renal aguda que requirieron tratamiento sustitutivo de la función renal.Material y métodos:Se identificaron, en forma retrospectiva, 3.732pacientes internados en unidades de terapia intensiva. El 2,7% presentaron insuficiencia renal aguda con requerimiento de tratamiento sustitutivo de la función renal. Se excluyeron pacientes con antecedentes de enfermedad renal crónica con filtrado glomerular menor de 15 ml/m o en diálisis crónica. Resultados:Se analizaron 97 casos, 55% mujeres, mediana de edad 74 años (rango intercuartil: 68-78). Los motivos de insuficiencia renal aguda más frecuentes fueron sepsis (41,2%) y necrosis tubular aguda isquémica (36,1%). El 22,7% eran diabéticos. La mediana de APACHE II fue 23 (rango intercuartil: 19-28). El 75,3% requirió asistencia respiratoria mecánica y el 81,4%, inotrópicos. La mediana de tiempo de internación en unidades de terapia intensiva fue de 8 días (rango intercuartil: 4-11) y la mortalidad fue 58,76%.En el análisis individual, la mortalidad se asoció con asistencia respiratoria mecánica (p<0,0001), el uso de inotrópicos (p<0,0001) y el antecedente deenfermedad renal crónica (p=0.008), pero no se encontró asociación con sexo, edad, APACHE II, diabetes ni otros factores de riesgo cardiovascular. Modelo multivariable de factores asociados con mortalidad: asistencia respiratoria mecánica (Odds Ratio=14,16; p=0,003), inotrópicos (Odds Ratio=8,73; p=0,07) y enfermedad renal crónica (Odds Ratio=0,27; p=0,020).Conclusiones:Los pacientes con insuficiencia renal agudaque requirieron tratamiento sustitutivo de la función renal ingresados a unidades de terapia intensiva presentaron alta mortalidad. El requerimiento de asistencia respiratoria mecánica se asoció con mayor mortalidad, también el uso de inotrópicos, aunque no alcanzó significación estadística en el multivariable. El antecedente de enfermedad renal crónica se asoció con menor mortalidad.

ABSTRACT Introduction: Acute renal failure in patients admitted to intensive care units is common and is associated with high mortality. The aim of the study was to identify factors related to mortality in patients with acute renal failure, hospitalized in intensive care units, who required renal replacement therapy. Methods: We retrospectively identified 3,732 patients admitted to intensive care units; 2.7% had acute renal failure requiring replacement therapy for renal function. Patients with a history of chronic kidney disease with a glomerular filtration rate of less than 15 mL/m or on chronic dialysis were excluded. Results: 97 cases were analyzed, 55% women, median age: 74 years (interquartile range: 68-78). The most frequent reasons for acute renal failure were sepsis (41.2%) and ischemic acute tubular necrosis (36.1%); 22.7% were diabetic. The median APACHE II score was 23 (interquartile range: 19-28). 75.3% required mechanical ventilation and 81.4%, inotropic drugs. Median time of hospitalization in intensive care units was 8 days (interquartile range: 4-11) and the mortality rate was 58.76%. In the individual analysis, mortality was associated with mechanical ventilation (p<0.0001), the use of inotropic drugs (p<0.0001) and a history of chronic kidney disease (p=0.008), but no association was found with sex, age, APACHE II score, diabetes, or other cardiovascular risk factors. Multivariate model of factors associated with mortality: mechanical ventilation (Odds Ratio=14.16; p=0.003), inotropic drugs (Odds Ratio=8.73; p=0.07) and chronic kidney disease (Odds Ratio=0.27; p=0.020). Conclusions: Patients with acute renal failure who required renal replacement therapy and were admitted to intensive care units presented high mortality. The requirement for mechanical ventilation was associated with higher mortality, as was the use of inotropic drugs, although it did not reach statistical significance in the multivariate analysis. A history of chronic kidney disease was associated with lower mortality.

Déficits en la acción socioeducativa dirigida a adolescentes vulnerables latinoamericanos residentes en España / Deficits in educational action with vulnerable adolescents from Latin America living in Spain / Déficits na ação socio-educacional com adolescência vulnerável da América Latina e residente na Espanha

Resumen (analítico) El Sistema de Protección a la Infancia y a la Adolescencia español utiliza los mismos mecanismos con la población tutelada nacional que con la extranjera de origen latinoamericano. Con esta investigación se pretende conocer las dificultades específicas de la juventud procedente de América Latina, en edad de emancipación y que tiene expediente de protección, así como identificar estrategias eficaces para la actuación socioeducativa. Mediante metodología cualitativa, en el marco de la teoría fundamentada, se realizan con juventud tutelada seis seguimientos longitudinales y cuatro relatos de vida. Se concluye con dos grupos de discusión con figuras profesionales especializadas. Los resultados muestran déficits en el acompañamiento socioeducativo, especialmente producto del choque entre las metas del proyecto migratorio y la rigidez del sistema. Se constata la ausencia de redes sociales de apoyo para la emancipación.

Abstract (analytical) The Protection System for Children and Adolescents in Spain has the same mechanisms for the national population as it does for the foreign population of children and Young people who are originally from Latin American. This research aimed to determine the specific emancipation difficulties of youths from Latin America with a Child Protective Service record, as well as to identify effective strategies for socioeducational actions. Using a qualitative methodology within the grounded theory framework, six longitudinal monitoring studies and four life story narrations are conducted with protected young people. The study concluded with two discussion groups with specialized professional figures. The results reveal deficits in educational accompaniment, especially as a result of the collision between migratory project goals and the rigidity of the education system. The absence of social support networks to contribute to their emancipation is confirmed.

Resumo (analítico) O Sistema de Proteção da Infância e da Adolescência Espanhola, atua com os mesmos mecanismos com a população tutelada nacional estrangeira e com a de origem latinoamericana. A investigação pretende conhecer as dificuldades específicas da juventude, com expedientes de proteção com as nacionalidades da américa latina, durante a emancipação, assim como identificar estratégias eficazes para a atuação socioeducativa, mediante uma metodologia qualitativa. O marco da teoria fundamentada, realizase com juventude tutelada de seis seguimentos longitudinais e de quatro relatos de vida. Conclui com grupos de discussão com figuras profissionais especializadas. Os resultados mostram déficits em acompanhamento socioeducativo, especialmente produto de choque entre as metas de projeto migratório e da rigidez do sistema. Constata-se a ausência de redes sociais de apoio para a emancipação.

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.

Soluble triggering receptor expressed on myeloid cells 2 (sTREM2) in cerebrospinal fluid (CSF) has been associated with Alzheimer's disease (AD). TREM2 plays a critical role in microglial activation, survival, and phagocytosis; however, the pathophysiological role of sTREM2 in AD is not well understood. Understanding the role of sTREM2 in AD may reveal new pathological mechanisms and lead to the identification of therapeutic targets. We performed a genome-wide association study (GWAS) to identify genetic modifiers of CSF sTREM2 obtained from the Alzheimer's Disease Neuroimaging Initiative. Common variants in the membrane-spanning 4-domains subfamily A (MS4A) gene region were associated with CSF sTREM2 concentrations (rs1582763; P = 1.15 × 10-15); this was replicated in independent datasets. The variants associated with increased CSF sTREM2 concentrations were associated with reduced AD risk and delayed age at onset of disease. The single-nucleotide polymorphism rs1582763 modified expression of the MS4A4A and MS4A6A genes in multiple tissues, suggesting that one or both of these genes are important for modulating sTREM2 production. Using human macrophages as a proxy for microglia, we found that MS4A4A and TREM2 colocalized on lipid rafts at the plasma membrane, that sTREM2 increased with MS4A4A overexpression, and that silencing of MS4A4A reduced sTREM2 production. These genetic, molecular, and cellular findings suggest that MS4A4A modulates sTREM2. These findings also provide a mechanistic explanation for the original GWAS signal in the MS4A locus for AD risk and indicate that TREM2 may be involved in AD pathogenesis not only in TREM2 risk-variant carriers but also in those with sporadic disease.

Lipohipertrofias en niños con diabetes mellitus tipo 1 / Lipohypertrophy in child with type 1 diabetes mellitus

ntroducción: La diabetes mellitus tipo 1 (DM1) es la enfermedad crónica más frecuente en la edad pediátrica. La educación del niño con DM1 es fundamental para un adecuado control de la enfermedad. Las lipohipertrofias son una de las complicaciones más frecuentes que se producen por el tratamiento con insulina. Estas son consideradas problemas de colaboración y, por lo tanto, es labor de la enfermera controlar su aparición e intervenir para minimizar sus consecuencias. Objetivo: Determinar las características de las lipohipertrofias en niños diagnosticados con diabetes mellitus tipo 1. Métodos: Estudio descriptivo transversal mediante muestreo por conveniencia. Se evaluó la presencia, localización y tamaño de las lipohipertrofias y la relación de la persona que administra la insulina con el régimen de tratamiento. Se estudiaron pacientes de edades comprendidas entre 2 y 18 años que tuviesen, al menos, 3 meses de tratamiento insulínico. Se calculó el tamaño de la muestra mediante estimación de la proporción. Resultados: La prevalencia de lipohipertrofias fue del 44,5 por ciento. Sin embargo, entre los niños estudiados que se encontraban en tratamiento con múltiples dosis de insulina, el porcentaje se elevó a 53,8 por ciento. Los análogos de acción rápida eran inyectados principalmente en abdomen y brazo, los de acción lenta en glúteo y muslo. Los lugares con más lipohipertrofias eran muslos (superando el 50 por ciento), seguido de brazos y abdomen. Conclusiones: Se detectaron diferencias significativas en la aparición de lipohipertrofias entre los niños que portan bomba de insulina y los que utilizan un régimen de múltiples dosis de insulina. Por lo tanto, se podría recomendar la utilización de bomba de insulina o de catéteres de infusión subcutánea (i-Port ®) para la disminución de estas(AU)

Introduction: Type 1 diabetes mellitus (T1DM) is the most common chronic disease in the pediatric age. In order to obtain a positive control of this illness, the T1DM child education is basic. Lipohypertrophies are one of the most frequent difficulties that appear as a consequence of the insulin treatment. When this happen, is nurse's responsibility to monitor the appearance of lipohypertrophies and to try to reduce their consequences. Objectives: Establish the prevalence of lipohypertrophy in children with T1DM performed at the Pediatric Endocrinology Unit of the Hospital Universitario La Paz. Methods: To analyze lipohypertrophy it has been performed a descriptive study. The method used for the sampling was for convenience. Appearance, location and size of lipohypertrophies were evaluated. This has been related with person who administers the insulin and the treatment regimen. Results: Lipohypertrophy prevalence in the sample represented a 44.5 percent, however, between patients which were in a treatment with multiple daily injections this was 53.8 percent. Quick action analogues were mainly injected in abdomen and arms, slow action analogues were aministered in buttocks and leg. Legs were the part of the body with the most lipohypertrophies concentration (exceeded 50 percent), follow by arms and abdomen. Conclusions: Meaningful differences are shown in the appearance of lipohypertrophies between children in treatment with continuous subcutaneous insulin infusion and those that use a multiple daily injections treatment. Therefore, we concluded considering the possibility to recommend the use of continuous subcutaneous insulin infusion or indwelling catheters (i-Port ®) in order to decrease lipohypertrophies(AU)

Sex-specific genetic predictors of Alzheimer's disease biomarkers.

Cerebrospinal fluid (CSF) levels of amyloid-ß 42 (Aß42) and tau have been evaluated as endophenotypes in Alzheimer's disease (AD) genetic studies. Although there are sex differences in AD risk, sex differences have not been evaluated in genetic studies of AD endophenotypes. We performed sex-stratified and sex interaction genetic analyses of CSF biomarkers to identify sex-specific associations. Data came from a previous genome-wide association study (GWAS) of CSF Aß42 and tau (1527 males, 1509 females). We evaluated sex interactions at previous loci, performed sex-stratified GWAS to identify sex-specific associations, and evaluated sex interactions at sex-specific GWAS loci. We then evaluated sex-specific associations between prefrontal cortex (PFC) gene expression at relevant loci and autopsy measures of plaques and tangles using data from the Religious Orders Study and Rush Memory and Aging Project. In Aß42, we observed sex interactions at one previous and one novel locus: rs316341 within SERPINB1 (p = 0.04) and rs13115400 near LINC00290 (p = 0.002). These loci showed stronger associations among females (ß = - 0.03, p = 4.25 × 10-8; ß = 0.03, p = 3.97 × 10-8) than males (ß = - 0.02, p = 0.009; ß = 0.01, p = 0.20). Higher levels of expression of SERPINB1, SERPINB6, and SERPINB9 in PFC was associated with higher levels of amyloidosis among females (corrected p values < 0.02) but not males (p > 0.38). In total tau, we observed a sex interaction at a previous locus, rs1393060 proximal to GMNC (p = 0.004), driven by a stronger association among females (ß = 0.05, p = 4.57 × 10-10) compared to males (ß = 0.02, p = 0.03). There was also a sex-specific association between rs1393060 and tangle density at autopsy (pfemale = 0.047; pmale = 0.96), and higher levels of expression of two genes within this locus were associated with lower tangle density among females (OSTN p = 0.006; CLDN16 p = 0.002) but not males (p ≥ 0.32). Results suggest a female-specific role for SERPINB1 in amyloidosis and for OSTN and CLDN16 in tau pathology. Sex-specific genetic analyses may improve understanding of AD's genetic architecture.

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

A genome-wide survival analysis of 14,406 Alzheimer's disease (AD) cases and 25,849 controls identified eight previously reported AD risk loci and 14 novel loci associated with age at onset. Linkage disequilibrium score regression of 220 cell types implicated the regulation of myeloid gene expression in AD risk. The minor allele of rs1057233 (G), within the previously reported CELF1 AD risk locus, showed association with delayed AD onset and lower expression of SPI1 in monocytes and macrophages. SPI1 encodes PU.1, a transcription factor critical for myeloid cell development and function. AD heritability was enriched within the PU.1 cistrome, implicating a myeloid PU.1 target gene network in AD. Finally, experimentally altered PU.1 levels affected the expression of mouse orthologs of many AD risk genes and the phagocytic activity of mouse microglial cells. Our results suggest that lower SPI1 expression reduces AD risk by regulating myeloid gene expression and cell function.

Violencia en parejas transexuales, transgénero e intersexuales: una revisión bibliográfica / Violence in transsexual, transgender and intersex couples: a systematic review

La violencia de pareja afecta a personas transexuales, transgénero e intersexuales y así se visibiliza en investigaciones a nivel nacional e internacional. En este estudio teórico se ha llevado a cabo una revisión sistemática de las investigaciones realizadas con estos colectivos. Se realiza una revisión exhaustiva de las principales bases de datos con el fin de identificar todos los estudios relativos a esta temática. Se obtiene un total de 28 investigaciones sobre violencia en parejas transexuales, transgénero e intersexuales. De las cuales se ha analizado el tipo de muestra, el método e instrumento utilizado, así como sus principales resultados. Los resultados ponen de relieve que la aproximación de estudio más frecuentemente utilizada es la de tipo cuantitativo, especialmente centrada en el colectivo transexual. En relación a la prevalencia se observa una gran variabilidad, con un rango del 18 al 80%, constituyendo un problema de salud pública. Las mujeres trans son las que sufren más significativamente esta violencia, siendo más frecuentemente el miembro normativo de la pareja quien la ejerce. El heterosexismo y la transfobia se han identificado como factores de riesgo. Finalmente se plantea la importancia de incorporar el abordaje de la violencia en relaciones de pareja donde al menos uno de los miembros es transexual, transgénero o intersexual en los programas de prevención de violencia de género.

Intimate partner violence affects transsexual, transgender and intersex individuals and has been approached by national and international research. This theoretical study has carried out a systematic review of research conducted with these groups. An exhaustive review of the main databases was performed to identify all the studies that focus on this subject. Overall, 28 studies were obtained on violence in transsexual, transgender and intersex couples. In each study, we analyzed the type of sample, method and instrument that were used, as well as the main results. The results highlight that the quantitative approach is the most common one, focusing especially on the transsexual community. Concerning prevalence, we observed a great variability, ranging from 18 to 80%, constituting a public health problem. Trans women are the ones who most suffer this type of violence, and the "gender-normative" member of the couple is most frequently the aggressor. Heterosexism and transphobia were identified as risk factors. Finally, the importance of including intimate partner violence in relationships in which at least one of the members is transsexual, transgender or intersex in gender violence prevention programs is highlighted.

Síndrome de Hakim Adams: evaluación de la calidad de vida luego de la cirugía / Hakim Adams syndrome: assessment of quality of life after surgery

Introducción: el síndrome de Hakim Adams, o hidrocefalia normotensiva, es un cuadro progresivo que se caracteriza por presentar alteración de la marcha, trastornos esfinterianos y demencia, y que afecta principalmente a pacientes añosos. Si bien existen publicaciones sobre los resultados del tratamiento quirúrgico, estos trabajos suelen evaluar la mejoría sintomática pero no la calidad de vida de los pacientes. Objetivo: Conocer el impacto del tratamiento en pacientes con síndrome de Hakim Adams tratados con derivación de LCR. Material y Métodos: Realizamos un estudio retrospectivo de una serie de 8 pacientes. Se realizó una encuesta para la evaluación preoperatoria y postoperatoria; con un tiempo transcurrido no menor a 6 meses luego del procedimiento. Se utilizó la escala de Barthel para la funcionalidad, y una escala numérica simple para la calidad de vida. Resultados: Previo a la cirugía, 7 casos presentaban alteraciones de la marcha y/o problemas para deambular; 6 casos alteraciones esfinterianas; y 5 casos algún tipo de alteración neurocognitiva. Luego de la cirugía, todos los pacientes refirieron un cambio significativo en la calidad de vida; y también en la funcionalidad, logrando 6 pacientes una independencia absoluta. Conclusión: Aunque nuestra comunicación tiene las debilidades de una serie pequeña de casos analizados en forma retrospectiva, los resultados son concluyentes en cuanto a mejora en la calidad de vida y funcionalidad en el postoperatorio. Creemos que esta modalidad de evaluación puede ayudar a los pacientes y/o familiares de pacientes en el proceso de toma decisiones del tratamiento quirúrgico.

Introduction: the Hakim Adams’ syndrome is a chronic hydrocephalus of the elderly with normal or low CSF pressure that clinically have gait disturbances, urinary incontinence and dementia. Although there are some publications about the surgical results in terms of the relief of symptoms, they don’t usually evaluate the patients’ quality of life. Material and Methods: We are reporting a retrospective study of a series of 8 patients with diagnosis of Hakim Adams’ syndrome that was performed to assess the influence of CSF shunting on their quality of life. A survey was performed to record the preoperative status, with at least 6-months after surgery. Functional results were evaluated with Barthel’s scale; and the quality of life with a simple numeric scale. Results: Before surgery, 7 cases had gait disturbances; 6 cases had urinary incontinence; and 5 cases had neurocognitive impairment. Postoperatively, all patients reported a significative change in their quality of life, and also in the functional scale; 6 cases obtained total independence. Conclusion: Although our communication has the weakness of the small number of cases evaluated in a retrospective manner, the results are conclusive in terms of functionality improvement and quality of life. This kind of assessment may help to our patients and/or patients’ family in the decision making process of shunting procedures.

Evaluation of Candidate Genes Related to Neuronal Apoptosis in Late-Onset Alzheimer's Disease.

The objective of this study was to identify genetic variation in genes encoding death receptors and signals that modulate their activity. After conducting a meta-analysis with five previous genome-wide association studies and aggregated data, the most significant signals, (TNF locus: rs2395488, rs2534672, and rs9267445; and FASLG locus: rs730278), were replicated in 1,046 cases and 372 controls. The rs2395488 and rs2534672 markers showed a modest protective effect (OR = 0.849, p = 0.49780;OR= 0.687, p = 0.11335), in contrast to rs730278 marker (OR = 1.146, p = 0.17212), which did not follow the previous effect direction; in any case it reached the significance level. Final meta-analysis, adding the replication sample, confirmed these observations. We concluded that FASLG marker is not etiologically linked to Alzheimer's disease. However, single nucleotide polymorphisms around TNF locus require further analyses in order to explain the association between Alzheimer's disease and human leukocyte antigen.

Intervención y evaluación de un programa de educación afectivo-sexual en la escuela para padres y madres de adolescentes / Intervention and evaluation of a comprehensive sex education programme carried out with parents of teenager students

Se presenta un programa de educación sexual llevado a cabo con padres y madres en un centro de educación secundaria. Éste fue desarrollado de forma paralela al programa realizado con sus hijos y/o hijas adolescentes. Los principales resultados derivados de su evaluación, de carácter procesual y formativo, evidencian un incremento del nivel de satisfacción corporal, autoconcepto y autoestima, así como de sus conocimientos sobre nutrición y órganos sexuales. Se constata también un incremento de actitudes igualitarias hacia ambos sexos y de actitudes erotofílicas hacia la sexualidad. El programa fue valorado positivamente por quienes participaron. Se destacó la importancia de implementar experiencias que, como ésta, supongan una alternativa a la sobredimensionada educación de la inteligencia racional, en pro de un desarrollo integral de la personalidad de los y las adolescentes.

This paper outlines a sex education programme carried out with the parents of secondary school students taking part in a similar programme simultaneously. Results reveal an increase in participants' overall level of satisfaction with their bodies, self-concept, and self-esteem, as well as an increased knowledge about sexual organs and nutrition. There was also a rise in the number of egalitarian attitudes toward the two sexes and positive attitudes toward sexuality. Overall, participants' evaluations of the programme were positive. They pointed out the importance of implementing programmes such as these, which offer an alternative to the traditional model of education centered mainly on rational intelligence, and which encourage more holistic development of personality among teenagers.