La enfermedad de Huntington en la Comunitat Valenciana / Huntington disease in the Valencian Region

Introducción: La enfermedad de Huntington (EH) es un trastorno raro neurodegenerativo caracterizado por movimientos coreicos involuntarios, trastornos conductuales y psiquiátricos, y demencia. Objetivo: Describir la distribución geográfica, etaria y por sexo de la EH en la Comunitat Valenciana (CV), y determinar su prevalencia y mortalidad. Materiales y métodos: Estudio transversal en el período 2010-2018. Se identificaron, a través del Sistema de Información de Enfermedades Raras de la CV, los casos confirmados de EH. Se describieron las características sociodemográficas, y se obtuvieron la prevalencia y la tasa de mortalidad.Resultados: Se identificaron 225 casos, un 50,2% mujeres. El 52% residía en la provincia de Alicante. Un 68,9% se verificó por su diagnóstico clínico. La mediana de edad en el momento del diagnóstico fue 54,1 años, 54,7 en los hombres y 53 en las mujeres. La prevalencia en 2018 fue de 1,97/100.000 habitantes –intervalo de confianza al 95% (IC 95%): 0,39-2,37–. El 49,8% falleció, un 51,8% hombres. La mediana de edad en el momento del fallecimiento fue de 62,7 años, y fue inferior en los hombres que en las mujeres. La tasa de mortalidad en 2018 fue de 0,32/100.000 habitantes (IC 95%: 0,32-2,28) y no se observaron diferencias estadísticamente significativas, ni en conjunto ni por sexos, durante el período de estudio. Conclusiones: La prevalencia obtenida estaba dentro del rango estimado por Orphanet (1-9/100.000). Se observó una diferencia por sexos en la edad de diagnóstico. Los hombres son el grupo de mayor mortalidad y de edad de fallecimiento más temprana. Es una enfermedad con alta mortalidad, con una media de 6,5 años entre el diagnóstico y el fallecimiento.(AU)

Introduction: Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Objective: Describe the geographical, age and sex distribution of HD in the Valencia Region (VR) and determine its prevalence and mortality. Materials and methods: Cross-sectional study for the period 2010-2018. Confirmed cases of HD were identified through the Rare Disease Information System of the VR. Sociodemographic characteristics were described, and the prevalence and mortality rate were obtained. Results: 225 cases were identified, 50.2% women. 52.0% lived in the province of Alicante. 68.9% were verified by their clinical diagnosis. The median age at diagnosis was 54.1 years, 54.7 years in men and 53.0 years in women. The prevalence in 2018 was 1.97/100,000 inhabitants (95%; CI: 0.39-2.37), showing a no significant increasing trend, overall and by sex. 49.8% died, 51.8% men. The median age at death was 62.7 years, being lower in men than in women. The mortality rate in 2018 was 0.32/100,000 inhabitants (95%; CI: 0.32-2.28), with no statistically significant differences. Conclusions: The prevalence obtained was within the range estimated by Orphanet (1-9/100,000). A difference between sexes was observed in the diagnosis age. Men are the group with the highest mortality and the earliest age of death. It is a disease with high mortality with an average of 6.5 years between diagnosis and death.(AU)

[Huntington disease in the Valencian Region]. / La enfermedad de Huntington en la Comunitat Valenciana.

INTRODUCTION: Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. OBJECTIVE: Describe the geographical, age and sex distribution of HD in the Valencia Region (VR) and determine its prevalence and mortality. MATERIALS AND METHODS: Cross-sectional study for the period 2010-2018. Confirmed cases of HD were identified through the Rare Disease Information System of the VR. Sociodemographic characteristics were described, and the prevalence and mortality rate were obtained. RESULTS: 225 cases were identified, 50.2% women. 52.0% lived in the province of Alicante. 68.9% were verified by their clinical diagnosis. The median age at diagnosis was 54.1 years, 54.7 years in men and 53.0 years in women. The prevalence in 2018 was 1.97/100,000 inhabitants (95%; CI: 0.39-2.37), showing a no significant increasing trend, overall and by sex. 49.8% died, 51.8% men. The median age at death was 62.7 years, being lower in men than in women. The mortality rate in 2018 was 0.32/100,000 inhabitants (95%; CI: 0.32-2.28), with no statistically significant differences. CONCLUSIONS: The prevalence obtained was within the range estimated by Orphanet (1-9/100,000). A difference between sexes was observed in the diagnosis age. Men are the group with the highest mortality and the earliest age of death. It is a disease with high mortality with an average of 6.5 years between diagnosis and death.

TITLE: La enfermedad de Huntington en la Comunitat Valenciana.Introducción. La enfermedad de Huntington (EH) es un trastorno raro neurodegenerativo caracterizado por movimientos coreicos involuntarios, trastornos conductuales y psiquiátricos, y demencia. Objetivo. Describir la distribución geográfica, etaria y por sexo de la EH en la Comunitat Valenciana (CV), y determinar su prevalencia y mortalidad. Materiales y métodos. Estudio transversal en el período 2010-2018. Se identificaron, a través del Sistema de Información de Enfermedades Raras de la CV, los casos confirmados de EH. Se describieron las características sociodemográficas, y se obtuvieron la prevalencia y la tasa de mortalidad. Resultados. Se identificaron 225 casos, un 50,2% mujeres. El 52% residía en la provincia de Alicante. Un 68,9% se verificó por su diagnóstico clínico. La mediana de edad en el momento del diagnóstico fue 54,1 años, 54,7 en los hombres y 53 en las mujeres. La prevalencia en 2018 fue de 1,97/100.000 habitantes ­intervalo de confianza al 95% (IC 95%): 0,39-2,37­. El 49,8% falleció, un 51,8% hombres. La mediana de edad en el momento del fallecimiento fue de 62,7 años, y fue inferior en los hombres que en las mujeres. La tasa de mortalidad en 2018 fue de 0,32/100.000 habitantes (IC 95%: 0,32-2,28) y no se observaron diferencias estadísticamente significativas, ni en conjunto ni por sexos, durante el período de estudio. Conclusiones. La prevalencia obtenida estaba dentro del rango estimado por Orphanet (1-9/100.000). Se observó una diferencia por sexos en la edad de diagnóstico. Los hombres son el grupo de mayor mortalidad y de edad de fallecimiento más temprana. Es una enfermedad con alta mortalidad, con una media de 6,5 años entre el diagnóstico y el fallecimiento.

Linking a European cohort of children born with congenital anomalies to vital statistics and mortality records: A EUROlinkCAT study.

EUROCAT is a European network of population-based congenital anomaly (CA) registries. Twenty-one registries agreed to participate in the EUROlinkCAT study to determine if reliable information on the survival of children born with a major CA between 1995 and 2014 can be obtained through linkage to national vital statistics or mortality records. Live birth children with a CA could be linked using personal identifiers to either their national vital statistics (including birth records, death records, hospital records) or to mortality records only, depending on the data available within each region. In total, 18 of 21 registries with data on 192,862 children born with congenital anomalies participated in the study. One registry was unable to get ethical approval to participate and linkage was not possible for two registries due to local reasons. Eleven registries linked to vital statistics and seven registries linked to mortality records only; one of the latter only had identification numbers for 78% of cases, hence it was excluded from further analysis. For registries linking to vital statistics: six linked over 95% of their cases for all years and five were unable to link at least 85% of all live born CA children in the earlier years of the study. No estimate of linkage success could be calculated for registries linking to mortality records. Irrespective of linkage method, deaths that occurred during the first week of life were over three times less likely to be linked compared to deaths occurring after the first week of life. Linkage to vital statistics can provide accurate estimates of survival of children with CAs in some European countries. Bias arises when linkage is not successful, as early neonatal deaths were less likely to be linked. Linkage to mortality records only cannot be recommended, as linkage quality, and hence bias, cannot be assessed.

Experience with the use of siltuximab in patients with SARS-CoV-2 infection.

OBJECTIVE: The study aims to describe characteristics and clinical outcome of patients with SARS-CoV-2 infection that received siltuximab according to a protocol that aimed to early block the activity of IL-6 to avoid the progression of the inflammatory flare. METHODS: Retrospective review of the first 31 patients with SARS-CoV-2 treated with siltuximab, in Hospital Clinic of Barcelona or Hospital Universitario Salamanca, from March to April 2020 with positive polymerase-chain reaction (PCR) from a nasopharyngeal swab. RESULTS: The cohort included 31 cases that received siltuximab with a median (IQR) age of 62 (56-71) and 71% were males. The most frequent comorbidity was hypertension (48%). The median dose of siltuximab was 800 mg ranging between 785 and 900 mg. 7 patients received siltuximab as a salvage therapy after one dose of tocilizumab. At the end of the study, a total of 26 (83.9) patients had been discharged alive and the mortality rate was 16.1% but only 1 out of 24 that received siltuximab as a first line option (4%). CONCLUSIONS: Siltuximab is a well-tolerated alternative to tocilizumab when administered as a first line option in patients with COVID-19 pneumonia within the first 10 days from symptoms onset and high C-reactive protein.

Fiber-based angular filtering for high-resolution Brillouin spectroscopy in the 20-300†GHz frequency range.

Brillouin spectroscopy emerges as a promising non-invasive tool for nanoscale imaging and sensing. One-dimensional semiconductor superlattice structures are eminently used for selectively enhancing the generation or detection of phonons at few GHz. While commercially available Brillouin spectrometers provide high-resolution spectra, they consist of complex experimental techniques and are not suitable for semiconductor cavities operating at a wide range of optical wavelengths. We develop a pragmatic experimental approach for conventional Brillouin spectroscopy that can integrate a widely tunable excitation-source. Our setup combines a fibered-based angular filtering and a spectral filtering based on a rotating single etalon and a double grating spectrometer for sequential reconstruction of Brillouin spectra. This configuration allows probing confined acoustic phonon modes in the 20-300 GHz frequency range with excellent laser rejection and high spectral resolution. Remarkably, our scheme based on the excitation and collection of the enhanced Brillouin scattering signals through the optical cavity allows for better angular filtering with decreasing phonon frequency. It can be implemented for the study of cavity optomechanics and stimulated Brillouin scattering over broadband optical and acoustic frequency ranges.

Multidisciplinary expert consensus on secondary fracture prevention in Spain.

The study aimed to achieve expert consensus to optimize secondary fracture prevention in Spain. Relevant gaps in current patient management were identified. However, some aspects were considered difficult to apply. Future efforts should focus on those items with greatest divergences between importance and feasibility. PURPOSE: To establish a Spanish multidisciplinary expert consensus on secondary fracture prevention. METHODS: A two-round Delphi consensus was conducted, guided by a Scientific Committee. The 43-item study questionnaire was designed from a literature review and a subsequent multidisciplinary expert group (n = 12) discussion. The first-round questionnaire, using a 7-point Likert scale, assessed the experts' opinion of the current situation, their wish for items to happen, and their prognosis that items would be implemented within 5 years. Items for which consensus was not achieved were included in the second round. Consensus was defined as ≥ 75% agreement or ≥ 75% disagreement. A total of 102 experts from 14 scientific societies were invited to participate. RESULTS: A total of 75 (response rate 73.5%) and 69 (92.0%) experts answered the first and second Delphi rounds, respectively. Participants mean age was 51.8 years [standard deviation (SD): 10.1 years]; being 24.0% rheumatologists, 21.3% primary care physicians, 14.7% geriatricians, 8.0% internal medicine specialists, 8.0% rehabilitation physicians, and 8.0% gynecologists. Consensus was achieved for 79.1% of items (wish, 100%; prognosis, 58.1%). Effective secondary prevention strategies identified as requiring improvement included: clinical report standardization, effective hospital primary care communication (telephone/mail and case managers), health-related quality of life (HRQoL) questionnaires use, and treatment compliance monitoring (prognosis agreement 33.3%, 47.8%, 18.8%, and 55.1%, respectively). CONCLUSION: A consensus was reached by health professionals in their wish to implement strategies to optimize secondary fracture prevention; however, they considered some difficult to apply. Efforts should focus on those items with currently low application and those with greatest divergence between wish and prognosis.

Candida bloodstream infection in patients with systemic autoimmune diseases.

OBJECTIVES: To describe the epidemiological, clinical and microbiological characteristics and mortality of patients with Candida bloodstream infection and systemic autoimmune diseases. METHODS: We performed a retrospective multicenter study of candidemia in adults with systemic autoimmune diseases between 2010 and 2016. RESULTS: Among 1040 patients with candidemia, 36 (3.5%) had a systemic autoimmune disease. The most common systemic autoimmune disease was rheumatoid arthritis (27.8%). The most common species was Candida albicans (66.7%). Twenty-two (61.1%) patients received a corticosteroid therapy and nine (25%) received an immunosuppressive therapy at the time of candidemia. The mortality rate was 27.8%. CONCLUSIONS: Systemic autoimmune diseases are not common in patients with candidemia. The unadjusted mortality rate was comparable to other candidemia studies in the general population.

First clinical symptom as a prognostic factor in systemic sclerosis: results of a retrospective nationwide cohort study.

The objective of the study is to determine the importance of the mode of onset as prognostic factor in systemic sclerosis (SSc). Data were collected from the Spanish Scleroderma Registry (RESCLE), a nationwide retrospective multicenter database created in 2006. As first symptom, we included Raynaud's phenomenon (RP), cutaneous sclerosis, arthralgia/arthritis, puffy hands, interstitial lung disease (ILD), pulmonary arterial hypertension (PAH), and digestive hypomotility. A total of 1625 patients were recruited. One thousand three hundred forty-two patients (83%) presented with RP as first symptom and 283 patients (17%) did not. Survival from first symptom in those patients with RP mode of onset was higher at any time than those with onset as non-Raynaud's phenomenon: 97 vs. 90% at 5 years, 93 vs. 82% at 10 years, 83 vs. 62% at 20 years, and 71 vs. 50% at 30 years (p < 0.001). In multivariate analysis, factors related to mortality were older age at onset, male gender, dcSSc subset, ILD, PAH, scleroderma renal crisis (SRC), heart involvement, and the mode of onset with non-Raynaud's phenomenon, especially in the form of puffy hands or pulmonary involvement. The mode of onset should be considered an independent prognostic factor in systemic sclerosis and, in particular, patients who initially present with non-Raynaud's phenomenon may be considered of poor prognosis.

One and two-year persistence with different anti-osteoporosis medications: a retrospective cohort study.

Adherence to anti-osteoporosis medications is poor. We carried out a cohort study using a real-world population database to estimate the persistence of anti-osteoporosis drugs. Unadjusted 2-year persistence ranged from 10.3 to 45.4%. Denosumab users had a 40% lower risk of discontinuation at 2 years compared to alendronate users. PURPOSE: The purpose of this study was to estimate real-world persistence amongst incident users of anti-osteoporosis medications. METHODS: This is a retrospective cohort using data from anonymised records and dispensation data ( www.sidiap.org ). Eligibility comprised the following: women aged ≥50, incident users of anti-osteoporosis medication (2012), with data available for at least 12 months prior to therapy initiation. Exclusions are other bone diseases/treatments and uncommon anti-osteoporosis drugs (N < 100). Follow-up was from first pharmacy dispensation until cessation, end of study, censoring or switching. Outcomes are 2- and 1-year persistence with a permissible gap of up to 90 days. Persistence with alendronate was compared to other bisphosphonates, strontium ranelate, selective oestrogen receptor modulators, teriparatide and denosumab. Cox models were used to estimate hazard ratios of therapy cessation according to drug used after adjustment for age, sex, BMI, smoking, alcohol drinking, Charlson co-morbidity index, previous fractures, use of anti-osteoporosis medication/s, oral corticosteroids and socio-economic status. RESULTS: A total of 19,253 women were included. Unadjusted 2-year persistence [95% CI] ranged from 10.3% [9.1-11.6%] (strontium ranelate) to 45.4% [43.1-47.8%] (denosumab). One-year persistence went from 35.8% [33.9%-37.7%] (strontium ranelate) to 65.8% [63.6%-68.0%] (denosumab). At the end of the first year and compared to alendronate users, both teriparatide and denosumab users had reduced cessation risk (adjusted HR 0.76, 95% CI 0.67-0.86 and 0.54, 95% CI 0.50-0.59 respectively) while at the end of the second year, only denosumab had a lower risk of discontinuation (adjusted HR 0.60, 95% CI 0.56-0.64). CONCLUSIONS: Unadjusted 2-year persistence is suboptimal. However, both teriparatide and denosumab users had better 1-year persistence and only denosumab had 2-year better persistence compared to alendronate users. Unmeasured confounding by indication might partially explain our findings.

Anomalías cromosómicas: la experiencia del Registro de Anomalías Congénitas de la Comunitat Valenciana / Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region

OBJETIVO: Describir la tendencia y la distribución de las anomalías congénitas (AC) cromosómicas en la Comunitat Valenciana, en menores de un año, durante el periodo 2007-2011. METODOLOGÍA: Se seleccionó a los nacidos vivos y muertos e interrupciones voluntarias del embarazo por AC entre 2007 y 2011 del Registro Poblacional de AC de la Comunitat Valenciana con AC cromosómica (códigos Q90-Q99.9 de la 10.ª Clasificación Internacional de Enfermedades-British Pediatric Asociation). Se calcularon la prevalencia por 10.000 nacidos y sus intervalos de confianza (IC) al 95% para el conjunto de AC cromosómica y algunos síndromes cromosómicos. El análisis se realizó mediante el cálculo de prevalencia y se compararon los datos utilizando la prueba de la chi al cuadrado de Pearson. RESULTADOS: Se identificaron 895 casos de AC cromosómicas, lo que supuso una prevalencia de 33,5 por 10.000 nacimientos (IC del 95%, 31,0-35,9), siendo los síndromes más frecuentes: Down, Edwards, Patau, Turner y Klinefelter. Las prevalencias de las AC cromosómicas y síndrome de Down fueron estables en el periodo, excepto en 2010. El Down fue la AC cromosómica más frecuente (67%) y las interrupciones voluntarias del embarazo por AC, el tipo de finalización del embarazo mayoritario (69%). Entre las AC asociadas, las cardiopatías congénitas representaban un 70,3%. La mayoría de las madres de niños con AC cromosómicas eran españolas (73,3%) y en el grupo de edad de madres mayores de 39 años se identificó la prevalencia más elevada (133,0 por 10.000 nacimientos). La provincia de Castellón presentó la prevalencia más elevada, 39,1 por 10.000 nacimientos. CONCLUSIONES: La prevalencia se ha mantenido estable durante el quinquenio, exceptuando el descenso significativo del año 2010, detectado para AC cromosómicas y 2 de los principales síndromes. Las AC cromosómicas son un importante problema de salud pública, ya que representan el 15% de todas las AC identificadas en la Comunitat Valenciana, coincidiendo con los valores de Europa

OBJECTIVE: To describe the temporal trend and distribution of chromosomal congenital abnormalities (CA) in the Valencia Region, in less than one year olds, during the period 2007-2011. METHODOLOGY: Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA (Q90-Q99.9 codes of the 10th International Classification of Diseases -British Paediatric Association) were selected from the CA population-based Registry of Valencia Region The prevalence per 10,000 births for the chromosomal CA and for the different types of chromosomal syndromes with 95% confidence intervals was calculated. The analysis was performed by calculating prevalences and data were compared using Pearson Chi-squared test. RESULTS: A total of 895 cases were found, representing a prevalence of 33.5 per 10,000 births (95% CI: 31.0-35.9), highlighting five syndromes: Down's, Edward's, Patau, Turner and Klinefelter. The prevalence of chromosomal CA and Down's syndrome were stable over the period, except in 2010. Down's was the most frequent chromosomal CA (67% of the cases), and the most frequent termination of pregnancy type was for foetal anomaly (69%). Cardiac heart defects represented 70.3% of the associated congenital anomalies. Mothers of children with chromosomal CA were mainly Spanish (73.3%). The age group of mothers over 39 years had a higher prevalence (133.0 per 10,000 births). The province of Castellón had the highest prevalence, 39.1 per 10,000 births. CONCLUSIONS: The prevalence has remained stable over the five years, excluding the significant decline in 2010, for chromosomal CA detected and two of the major syndromes. The chromosomal CA are an important public health problem as they represent 15% of all CA identified in the Valencia Region, and agrees with the European data

[Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region]. / Anomalías cromosómicas: la experiencia del Registro de Anomalías Congénitas de la Comunitat Valenciana.

OBJECTIVE: To describe the temporal trend and distribution of chromosomal congenital abnormalities (CA) in the Valencia Region, in less than one year olds, during the period 2007-2011. METHODOLOGY: Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA (Q90-Q99.9 codes of the 10th International Classification of Diseases -British Paediatric Association) were selected from the CA population-based Registry of Valencia Region The prevalence per 10,000 births for the chromosomal CA and for the different types of chromosomal syndromes with 95% confidence intervals was calculated. The analysis was performed by calculating prevalences and data were compared using Pearson Chi-squared test. RESULTS: A total of 895 cases were found, representing a prevalence of 33.5 per 10,000 births (95% CI: 31.0-35.9), highlighting five syndromes: Down's, Edward's, Patau, Turner and Klinefelter. The prevalence of chromosomal CA and Down's syndrome were stable over the period, except in 2010. Down's was the most frequent chromosomal CA (67% of the cases), and the most frequent termination of pregnancy type was for foetal anomaly (69%). Cardiac heart defects represented 70.3% of the associated congenital anomalies. Mothers of children with chromosomal CA were mainly Spanish (73.3%). The age group of mothers over 39 years had a higher prevalence (133.0 per 10,000 births). The province of Castellón had the highest prevalence, 39.1 per 10,000 births. CONCLUSIONS: The prevalence has remained stable over the five years, excluding the significant decline in 2010, for chromosomal CA detected and two of the major syndromes. The chromosomal CA are an important public health problem as they represent 15% of all CA identified in the Valencia Region, and agrees with the European data.

Embarazo cornual y metotrexato en multidosis / Cornual pregnancy and multidose methotrexate

El embarazo cornual es una patología poco frecuente pero con una elevada mortalidad si no se diagnostica precozmente. La ecografía vaginal permite un diagnóstico precoz y la realización de un tratamiento conservador con metotrexato, reduciendo la morbimortalidad materna. Presentamos un caso de una gestante diagnosticada de embarazo cornual derecho no accidentado que fue tratada con metotrexato multidosis con éxito

Cornual pregnancy is a rare condition but has high mortality unless diagnosed early. Early diagnosis with transvaginal ultrasound allows conservative treatment with methotrexate, thus reducing maternal morbidity and mortality. We report a case of an unruptured right cornual pregnancy successfully treated with multidose systemic methotrexate

Optimised room temperature, water-based synthesis of CPO-27-M metal-organic frameworks with high space-time yields.

The exceptional porosity of Metal-Organic Frameworks (MOFs) could be harnessed for countless practical applications. However, one of the challenges currently precluding the industrial exploitation of these materials is a lack of green methods for their synthesis. Since green synthetic methods obviate the use of organic solvents, they are expected to reduce the production costs, safety hazards and environmental impact typically associated with MOF fabrication. Herein we describe the stepwise optimisation of reaction parameters (pH, reagent concentrations and reaction time) for the room temperature, water-based synthesis of several members of the CPO-27/MOF-74-M series of MOFs, including ones made from Mg(II), Ni(II), Co(II) and Zn(II) ions. Using this method, we built MOFs with excellent BET surface areas and unprecedented Space-Time Yields (STYs). Employing this approach, we have synthesised CPO-27-M MOFs with record BET surface areas, including 1279 m2 g-1 (CPO-27-Zn), 1351 m2 g-1 (CPO-27-Ni), 1572 m2 g-1 (CPO-27-Co), and 1603 m2 g-1 (CPO-27-Mg). We anticipate that our method could be applied to produce CPO-27-Ni, -Mg, -Co and -Zn with STYs of 44 Kg m-3 day-1, 191 Kg m-3 day-1, 1462 Kg m-3 day-1 and a record 18720 Kg m-3 day-1, respectively.

La edad y el género como mediadores de la relación entre apoyo emocional y depresión: un estudio transcultural / Age and Sex as Mediators in the Relation between Emotional Support and Depression: a Transcultural Study

Introducción: La relación entre apoyo social y depresión ha sido investigada desde distintas miradas: en situaciones de estrés, con variables de la personalidad, en enfermedades, sus funciones, y en relación con la edad, el género o la cultura. Sin embargo, son muy pocos los estudios que abordan conjuntamente las implicaciones conjuntas del género, la edad y la cultura respecto al apoyo social en personas deprimidas. Objetivo: Evaluar las implicaciones recíprocas de la edad, el género y la nacionalidad sobre la relación entre apoyo emocional percibido y depresión. Métodos: Se trabajó con una muestra intencional de 1503 participantes de tres países: España, Cuba y México la cual se subdividió en tres grupos de edad: jóvenes adultos, adultos y personas de edad avanzada. Para la evaluación de la depresión, se utilizó la escala CES-D, mientras que para la evaluación del apoyo emocional percibido, se elaboró un modelo de entrevista específico. Se aplicó análisis de varianza multifactoriales a fin de cumplimentar los objetivos. Resultados: Los resultados obtenidos no solo muestran claramente la influencia de las variables estudiadas, sino también las interacciones especialmente relevantes entre estas variables respecto a los valores de depresión. Conclusiones: Es necesario considerar las diferencias culturales y su interacción entre la edad y el género, para entender la relación entre apoyo emocional y la depresión en la muestra investigada(AU)

Introduction: The relationship between social support and depression has been investigated since different point of views, such as on stress situations, with personality variables, in diseases, its functions and also in relation to age, sex and culture. But, there are few studies that take into consideration the group implications of sex, age and the culture related to the social support to depressed persons.Objective: To assess the mutual implications of age, sex and nationality about the relation between perceived emotional support and depression.Methods: It was taken an intentional sample of 1503 participants from three countries: Spain, Cuba and Mexico and this sample was divided into three age groups: young adults, adults and elders. For the asses off depression was used the CES-D scale and for the perceived emotional support was created a specific interview. Variable multifactors were applied with the aim to achieve the objectives. Results: The obtained results not only showed the influence of the studied variables, but also the interactions specifically relevant among those variables regarded to the values of depression. Conclusion: It is necessary to consider the cultural differences and its interaction between age and sex to understand the relation between emotional support and depression in the investigated sample(AU)

Variación temporal y distribución geográfica de las cardiopatías congénitas en la Comunitat Valenciana / Temporal variation and geographical distribution: congenital heart defects in the Comunitat Valenciana

Objetivos: El objetivo es estimar la prevalencia de anomalías congénitas cardíacas (ACC) en la Comunitat Valenciana (CV) en menores de un año e identificar si existen variaciones temporoespaciales en la misma. Métodos: Del conjunto mínimo básico de datos hospitalario se seleccionó a los nacidos entre 1999 y 2008, menores de un año y residentes en la CV con al menos un alta en las que el diagnóstico principal y/o alguno de los secundarios fueron codificados como ACC (códigos 745-747 de la Clasificación Internacional de Enfermedades 9.ª revisión Modificación Clínica). Utilizando como identificador el número de tarjeta sanitaria, se seleccionó la primera alta con ACC. Se calcularon la prevalencia y sus intervalos de confianza del 95%. Se obtuvieron la razón de prevalencias (RP) y las RP suavizadas de cada municipio para la elaboración de mapas, permitiendo identificar patrones geográficos. Resultados: Durante 1999-2008 se registraron 6.377 pacientes menores de un año con alguna ACC, representando el 43,2% de los casos de anomalías congénitas. La prevalencia fue de 134,3 por 10.000 nacidos vivos (IC del 95%, 131,1-137,6), observándose un incremento significativo de esta, pasando de 115,8 en el quinquenio 1999-2003 a 149,5 en 2004-2008. El riego más elevado se presentó al norte de la CV y en algunos municipios de la provincia de Alicante. Conclusiones: El incremento temporal de las ACC observado concuerda con lo encontrado en otros países y puede explicarse, al menos en parte, por la mejora de las técnicas diagnósticas. El patrón geográfico identificado requiere un análisis más detallado que permita explicar las variaciones encontradas (AU)

Objectives: The objective of this study is to estimate the prevalence of congenital heart defects (CHD) in the Comunitat Valenciana (CV) in children less than one year old and identify whether there are temporal and geographic variations within this prevalence. Methods: The minimum basic data set from hospital discharge reports was used to select patients, who were born between 1999-2008, were less than one year old, and who lived in the CV with at least one hospital admission in which the primary diagnosis and/or any of the events were coded as CHD (codes 745-747 of the International Classification of Diseases 9 th Revision Clinical Modification). The first hospital discharge report with CHD was selected, using the health card number to detect duplication. The prevalence and 95% confidence intervals were calculated, and the prevalence ratio (PR) and smoothed PR was obtained for each municipality to identify geographic patterns. Results: In the period 1999-2008 there were 6.377 patients younger than one year with some CHD, representing the 43.2% of cases of congenital anomalies. The prevalence was 134.3 per 10.000 live births (95% CI: 131.1-137.6). There was a significant increase in the prevalence, from 115.8 in the 1999-2003 period to 149.5 in the 2004-2008 period. A higher risk was identified in the north of the CV, and in some municipalities of the province of Alicante, in the south. Conclusions: The observed increase in CHD agrees with the findings in other countries and it can be explained, at least in part, by improved diagnostic techniques. The geographic pattern identified requires a more detailed analysis that could explain the geographic variations found (AU)

Inflammatory demyelinating diseases in children: an update.

Inflammatory demyelinating diseases (DD) affecting the central nervous system (CNS) are increasingly recognized in children. During the past decade significant advances have been made in this field. Pediatric DD are important not just because 3-5% of MS cases are diagnosed in childhood, but also because their pathogenesis may provide unique insights into the earliest events and triggers of acquired CNS DD. The purpose of this article is to offer an update into pediatric DD for the general pediatrician and child neurologist. Current evidence on epidemiology, pathology, diagnosis, management and prognosis are reviewed for both monophasic (ADEM and CIS) and polyphasic/chronic DD (MS and NMO). We also review new research advances including novel biomarkers and treatments from the latest literature.

[Temporal variation and geographical distribution: congenital heart defects in the Comunitat Valenciana]. / Variación temporal y distribución geográfica de las cardiopatías congénitas en la Comunitat Valenciana.

OBJECTIVES: The objective of this study is to estimate the prevalence of congenital heart defects (CHD) in the Comunitat Valenciana (CV) in children less than one year old and identify whether there are temporal and geographic variations within this prevalence. METHODS: The minimum basic data set from hospital discharge reports was used to select patients, who were born between 1999-2008, were less than one year old, and who lived in the CV with at least one hospital admission in which the primary diagnosis and/or any of the events were coded as CHD (codes 745-747 of the International Classification of Diseases 9th Revision Clinical Modification). The first hospital discharge report with CHD was selected, using the health card number to detect duplication. The prevalence and 95% confidence intervals were calculated, and the prevalence ratio (PR) and smoothed PR was obtained for each municipality to identify geographic patterns. RESULTS: In the period 1999-2008 there were 6.377 patients younger than one year with some CHD, representing the 43.2% of cases of congenital anomalies. The prevalence was 134.3 per 10.000 live births (95% CI: 131.1-137.6). There was a significant increase in the prevalence, from 115.8 in the 1999-2003 period to 149.5 in the 2004-2008 period. A higher risk was identified in the north of the CV, and in some municipalities of the province of Alicante, in the south. CONCLUSIONS: The observed increase in CHD agrees with the findings in other countries and it can be explained, at least in part, by improved diagnostic techniques. The geographic pattern identified requires a more detailed analysis that could explain the geographic variations found.

Afectividad positiva y negativa en ancianos con y sin sintomatología depresiva, ansiosa o mixta / Positive and Negative Affectivity on Elders with or within mix or anxiety depressive symptoms

Introducción: la ansiedad y la depresión son alteraciones frecuentes en los ancianos y de difícil diagnóstico. Para su diferenciación y explicación se ha propuesto el modelo bifactorial por Clark & Watson (1991), corroborándose su utilidad en otros grupos etáreos y países, pero sin evidencias de investigaciones en Cuba.Objetivo: identificar las relaciones entre afectividad positiva (AP) y afectividad negativa (AN) en ancianos con y sin sintomatología ansiosa, depresiva o mixta. Métodos: se trata de un estudio descriptivo, transversal, correlacional en 249 ancianos (60 años o más) con y sin sintomatología de ansiedad y depresión a los que se administró la Escala de Ansiedad y Depresión de Goldberg (EADG), el Inventario de afecto positivo y negativo (PANAS) y un cuestionario para variables sociodemográficas y de salud. Se tuvieron en cuenta los principios éticos y se empleó la estadística descriptiva, el ANOVA Univariado y la prueba de t de Student para el análisis de la información. Resultados: se encontraron diferencias significativas entre los ancianos con y sin trastornos en AP y AN para p<0,05. Las personas sin trastornos obtuvieron mayor nivel de AP y menor de AN. Los deprimidos presentaron niveles de AP y AN significativamente menores que los que tenían ansiedad o sintomatología mixta. Conclusiones: se identificaron relaciones entre afectividad positiva (AP) y afectividad negativa (AN) en ancianos con y sin sintomatología ansiosa, depresiva o mixta con particularidades para los mismos. Se recomienda la validación de los instrumentos empleados por su valor en la práctica clínica en ancianos cubanos(AU)

Introduction: anxiety and depression are frequent alterations difficult to diagnose on elders. For differentiation and explaining Bifactor Model has been proposed by Clark & Watson (1991) proving its use on other age- groups and countries, but without evidence of researches in Cuba. Objective: the aim of the work is to identify the relationship between positive affectivity (PA) and negative affectivity (NA) on elders with or within mix or anxiety depressive symptoms. Methods: It is a correlative, transversal and descriptive study done on two thousand forty-nine elders (sixty years old or more) with or within anxiety or depressive symptoms ;that were studied with Anxiety and Depression Scale of Goldberg(ADSG), Inventory of Positive and Negative Affective (PNA)and a questionnaire for the Social demographic and Health variables. Ethical principles and descriptive statistical were taken into consideration, as well as Invariable ANOVA and de T test Student for the analysis of the information. Results: Significant differences among the elders with or within PA and NA were found. The persons without disorders presented a high level of PA and a minor level of NA. The depressed elders presented significant PA and NA low levels according to the ones that suffered from anxiety or mix symptoms.Conclusions: Relationship between Positive affective (PA) and Negative affective (NA) were identified on elders with or within mix or anxiety depressive symptoms with particularities for themselves. Validation of the instruments used is recommended for its value on the clinical practice on Cuban elders(AU)

[Comparison between the "ICIQ-UI Short Form" Questionnaire and the "King's Health Questionnaire" as assessment tools of urinary incontinence among women]. / Comparación entre el cuestionario "ICIQ-UI Short Form" y el "King's Health Questionnaire" como instrumentos de evaluación de la incontinencia urinaria en mujeres.

INTRODUCTION: In our country there are a few available instruments to diagnose urinary incontinence (UI) from the patient's perspective. The King's Health Questionnaire (KHQ) and the "International Consultation on Incontinence Questionnaire-Urinary Incontinence Short Form" (ICIQ-UI SF) are the most widespread among that. The present study aimed to compare the clinical utility between KHQ and ICIQ-UI SF with regard to the urodynamic test. MATERIAL AND METHODS: Cross-sectional study performed in 116 women who completed the ICIQ-UI SF, the KHQ and the urodynamic test and were diagnosed according to each test. Sensibility and specificity values of symptom dimension of the ICIQ-UI SF and the KHQ were analyzed with regard to the urodynamic test. In addition, correlation scores between the both compared measures were calculated. RESULTS: Mean age (SD) of women was 54 years (SD = 13.99). KHQ and ICIQ-UI SF mean scores were 39.93 (22.11) and 13.76 (4.11), respectively. Correlation between both measures was moderated (r = 0.6; p < 0.001). Percentages of pts with symptoms suggesting Stress UI (SUI), Urge UI (UUI) and Mixed UI (MUI) according to each instrument were: 33.7, 17.3 & 49 (KHQ); 40.4, 15.4 & 44.2 (ICIQ-UI SF). Patients' distribution according to urodynamic test was: SUI 41.3%, UUI 20.2%, MUI 26.9% and 11.5% with other diagnosis. Sensibility and specificity values of both questionnaires were very similar, but feasibility was worse for the KHQ (7.76% of pts did not complete the questionnaire) than for the ICIQ-UI SF (2.59% did not complete the questionnaire). CONCLUSIONS: Because of its better feasibility, clinical use of ICIQ-UI SF is recommended against KHQ for UI evaluation.

Comparación entre el cuestionario “ICIQ-UI Short Form” y el “King’s Health Questionnaire” como instrumentos de evaluación de la incontinencia urinaria en mujeres / Comparison between the "ICIQ-UI short form" questionnaire and the "King´s health questionnaire" as assessment tools of urinary incontinence among women

Introducción: En nuestro país existen diferentes cuestionarios para la evaluación de la Incontinencia Urinaria (IU) en la práctica clínica, desde el punto de vista de la paciente. El “King’s Health Questionnaire” (KHQ) y el “International Consultation on Incontinence Questionnaire-Urinary Incontinence Short Form” (ICIQ-UI SF) son los más utilizados. El presente estudio tuvo por objetivo comparar la utilidad clínica de KHQ y el ICIQ-UI SF respecto a la prueba urodinámica. Material y Métodos: Estudio transversal de 116 mujeres que completaron el ICIQ-UI SF, el KHQ y la prueba urodinámica, recibiendo un diagnóstico de tipo de IU según cada una de estas 3 pruebas. Se estudiaron la sensibilidad y especificidad de la dimensión de síntomas para el diagnóstico del tipo de IU del ICIQ-UI SF y del KHQ respecto a la prueba urodinámica. Además, se analizó la correlación existente entre ambas medidas, ICIQ-UI SF y KHQ. Resultados: La edad media fue de 54 años (DE= 13,99). La puntuación media del KHQ fue 39,93 (22,11) y la del ICIQ-UI SF 13,76 (4,11), presentando ambos cuestionarios una correlación moderada (r=0,6; p<0,001). Los porcentajes de pacientes con síntomas sugestivos de IU de Esfuerzo (IUE), IU de Urgencia (IUU) e IU Mixta (IUM) fueron respectivamente 33,7, 17,3 y 49 para el KHQ; 40,4, 15,4 y 44,2 para el ICIQ-UI SF. La distribución de las pacientes según las observaciones en el estudio urodinámico fue: IUE 41,3%, IUU 20,2%, IUM 26,9% y un 11,5% otros diagnósticos. La sensibilidad y especificidad de ambos cuestionarios fueron muy similares, pero la factibilidad fue peor para el KHQ (7,76% no lo completaron) que para el ICIQ-UI SF (2,59% no lo completaron). Conclusiones: Por su mejor factibilidad parece aconsejable el uso preferencial del ICIQ-UI SF frente al KHQ a la hora de evaluar la IU en la práctica clínica

Introduction: In our country there are a few available instruments to diagnose urinary incontinence (UI) from the patient’s perspective. The King’s Health Questionnaire (KHQ) and the “International Consultation on Incontinence Questionnaire-Urinary Incontinence Short Form” (ICIQ-UI SF) are the most widespread among that. The present study aimed to compare the clinical utility between KHQ and ICIQ-UI SF with regard to the urodynamic test. Material and Methods: Cross-sectional study performed in 116 women who completed the ICIQ-UI SF, the KHQ and the urodynamic test and were diagnosed according to each test. Sensibility and specificity values of symptom dimension of the ICIQUI SF and the KHQ were analyzed with regard to the urodynamic test. In addition, correlation scores between the both compared measures were calculated. Results: Mean age (SD) of women was 54 years (SD= 13.99). KHQ and ICIQ-UI SF mean scores were 39.93 (22.11) and 13.76 (4.11), respectively. Correlation between both measures was moderated (r= 0.6; p< 0.001). Percentages of pts with symptoms suggesting Stress UI (SUI), Urge UI (UUI) and Mixed UI (MUI) according to each instrument were: 33.7, 17.3 & 49 (KHQ); 40.4, 15.4 & 44.2 (ICIQ-UI SF). Patients’ distribution according to urodynamic test was: SUI 41.3%, UUI 20.2%, MUI 26.9% and 11.5% with other diagnosis. Sensibility and specificity values of both questionnaires were very similar, but feasibility was worse for the KHQ (7.76% of pts did not complete the questionnaire) than for the ICIQ-UI SF (2.59% did not complete the questionnaire). Conclusions: Because of its better feasibility, clinical use of ICIQ-UI SF is recommended against KHQ for UI evaluation