Development and validation of the EUROFORGEN NAME (North African and Middle Eastern) ancestry panel.

Inference of biogeographic origin is an important factor in clinical, population and forensic genetics. The information provided by AIMs (Ancestry Informative Markers) can allow the differentiation of major continental population groups, and several AIM panels have been developed for this purpose. However, from these major population groups, Eurasia covers a wide area between two continents that is difficult to differentiate genetically. These populations display a gradual genetic cline from West Europe to South Asia in terms of allele frequency distribution. Although differences have been reported between Europe and South Asia, Middle East populations continue to be a target of further investigations due to the lack of genetic variability, therefore hampering their genetic differentiation from neighboring populations. In the present study, a custom-built ancestry panel was developed to analyze North African and Middle Eastern populations, designated the 'NAME' panel. The NAME panel contains 111 SNPs that have patterns of allele frequency differentiation that can distinguish individuals originating in North Africa and the Middle East when combined with a previous set of 126 Global AIM-SNPs.

[Depressive symptoms and burden in family caregivers in Alzheimer's disease: a model of structural equations]. / Sintomas depresivos y sobrecarga en los familiares cuidadores en la enfermedad de Alzheimer: un modelo de ecuaciones estructurales.

INTRODUCTION: The care of patients with Alzheimer's disease increases the burden and depression of the main caregiver, although the relationship between the two is not clearly defined. AIMS: To explore the factors associated with depressive symptomatology and burden in the main caregiver and to apply a model of structural equations to identify the relationship between them. SUBJECTS AND METHODS: The sample consisted of 127 family caregivers of people with Alzheimer's disease, with a follow-up of 24 months. Multivariate regression analyses were performed to identify the characteristics of patients and caregivers associated with burden and depression of the main caregiver, and a model of structural equations was designed to analyse the relationship between the variables. RESULTS: In the model of structural equations, the burden had a direct effect on depression, both in the baseline assessment and at 24 months. The variables associated with burden were: schooling and the lower mental health of the main caregiver; and the behavioral alterations and the functional dependency of the patient. The lower cognitive level of the patient and the lower mental health of the main caregiver were associated with depression. The correlation between burden and depression increased from baseline to two years (r = 0.470 vs. r = 0.613). CONCLUSIONS: The deterioration of the patient and caregiver burden are risk factors for depression in the main caregiver. Interventions would be necessary to reduce the burden and prevent related depression.

TITLE: Sintomas depresivos y sobrecarga en los familiares cuidadores en la enfermedad de Alzheimer: un modelo de ecuaciones estructurales.Introduccion. El cuidado de los pacientes con enfermedad de Alzheimer incrementa la sobrecarga y la depresion del cuidador principal, aunque la relacion entre ambas no esta claramente definida. Objetivos. Explorar los factores asociados a la sintomatologia depresiva y la sobrecarga en el cuidador principal y aplicar un modelo de ecuaciones estructurales para identificar la relacion entre ellas. Sujetos y metodos. La muestra estuvo formada por 127 cuidadores familiares de personas con enfermedad de Alzheimer, con un seguimiento de 24 meses. Se realizaron analisis de regresion multivariante para identificar las caracteristicas de pacientes y cuidadores asociadas a la sobrecarga y la depresion del cuidador principal, y se diseño un modelo de ecuaciones estructurales para analizar la relacion entre las variables. Resultados. En el modelo de ecuaciones estructurales, la sobrecarga tuvo un efecto directo sobre la depresion, tanto en la evaluacion basal como a los 24 meses. Las variables asociadas a la sobrecarga fueron: la escolaridad y la menor salud mental del cuidador principal, y las alteraciones conductuales y la dependencia funcional del paciente. El menor nivel cognitivo del paciente y la menor salud mental del cuidador principal estuvieron asociados a la depresion. La correlacion entre sobrecarga y depresion aumento desde la evaluacion basal hasta los dos años (r = 0,47 frente a r = 0,613). Conclusiones. El deterioro del paciente y la sobrecarga son factores de riesgo para la depresion en el cuidador principal. Serian necesarias intervenciones para reducir la carga y poder prevenir la depresion relacionada.

A novel anaerobic filter membrane bioreactor: prototype start-up and filtration assays.

Anaerobic digestion allows efficient treatment of high loaded wastewater, and membrane technology allows obtaining high quality effluents with complete biomass retention. However, high biomass concentration interferes with membrane fouling. In the present work, a new bioreactor that integrates an attached biomass anaerobic culture on a fixed bed and a submerged membrane has been started up. The recirculation between the digestion and filtration chambers is coupled to the gas-lift effect of the bubbling employed for the scouring of the membranes, avoiding the use or electromechanical pumps that damage the suspended biomass. The support material retains the biomass in the digestion tank despite the downwards flow, avoiding the submerged membrane contacting with a high concentrated suspension. This novel system, called an anaerobic filter membrane bioreactor was immediately started up, achieving chemical oxygen demand (COD) removal efficiencies of 96% at an organic loading rate (OLR) of 7 kg COD/m3·d. In order to select filtration flux, specific gas demand and filtration cycle duration, the results of 15 short term assays, eight hours for each one, is presented for fluxes between 15.7 and 17.7 L/m2·h, cycle duration between 10 and 30 minutes, and three levels of scouring. It was checked that reversible and irreversible fouling were directly related when dTMP/dt > 2.5 mbar/min.

Nevo melanocítico congénito gigante / Giant congenital melanocytic nevus

Los nevos melanocíticos congénitos son lesiones cutáneas benignas frecuentes en el recién nacido. Además del riesgo de desarrollo de melanoma y melanocitosis neurocutánea, estas lesiones antiestéticas pueden originar trastornos psicológicos y ansiedad familiar. La tasa de complicaciones se correlaciona con el tamaño de los nevos. La actuación frente a un nevo melanocítico congénito (observación y extirpación quirúrgica) debe ser individualizada y valorada de forma multidisciplinar. La cirugía reduce la lesión, pero es prácticamente imposible eliminar todas las células névicas de un nevo gigante (AU)

Congenital melanocytic nevi are common benign lesions in neonates. Besides the risk of developing melanoma and neurocutaneus melanocitosis, congenital melanocytic nevus may be a source of psychological distress and family anxiety associated with the unsightly lesions. The rate of complications correlates best with the size of the nevi. The management (observation and/or surgical removal) for a congenital melanocytic nevus requires individualization and a multidisciplinary approach. Surgical removal reduces the lesions, but it is impossible remove all the nevus cells associated with giant nevi (AU)

Machine perfusion: initial results in an expanded criteria donor kidney transplant program.

BACKGROUND: Delayed graft function (DGF) negatively impacts graft survival. Expanded criteria donors (ECD) show a higher rate of DGF. Hypothermic machine perfusion (HMP) has shown a DGF decrease and an increase of survival at 1 year. Several authors found that renal resistance (RR) at the end of machine perfusion was an independent risk factor for the development of DGF and poorer graft survival. The objective of this study was to analyze HMP results in the context of an ECD program and assess the impact of donor parameters and resistance index (RI) during perfusion in graft survival after kidney transplantation. METHODS: Donor age, terminal creatinine, machine perfusion time, percentage of glomerulosclerosis, and RI at the end of the perfusion were considered as risk predictors. Univariate and multivariate Cox regression analysis was constructed to find independent risk factors of DGF. Finally, diagnostic validity for RR was determined by sensitivity, specificity, and positive and negative predictive values. RESULTS: Twenty-three percent of patients developed DGF. We found no difference in the ability of flow or RI to predict the development of DGF. The predictive accuracy of RI for DGF by receiver operator characteristic curve was poor, with a c-statistic of 0.66 (95% CI, 0.50-0.81; P = .046). Our analysis did not identify risk factors that predicted graft survival at 1 year. Patient and graft survival were 98.8% and 89.7%, respectively. CONCLUSIONS: HMP has reduced the rate of DGF in our cohort of recipients of ECD grafts compared with historical data (23.3% vs 38.0%). Analysis did not identify risk pretransplant factors for graft survival at 1 year.

Performance of an AnMBR pilot plant treating high-strength lipid wastewater: biological and filtration processes.

The performance of an anaerobic membrane bioreactor (AnMBR) treating wastewater with high levels of oil and grease content from a snacks factory is studied and its effectiveness is demonstrated. The relation between the reversible and the irreversible fouling rate and the fouling propensity of the fatty matter were evaluated under a subcritical flux of 7.9 and 8.3 L/m(2) h. Low Oil and Grease (O&G) concentrations of 500 mg/L produced an irreversible fouling rate of only 0.09 mbar/d, while the fouling rate was between 0.96 and 3.95 mbar/d for an average O&G concentration of 6 g/L. In spite of the significant increase in filtration resistance from 0.31 to 6.08 × 10(12) m(-1) after 40 days of continuous operation, the critical flux level hardly decreased from 11.1 to 9.7 L/(m(2) h). With regard to the biological process, after a start-up period with an organic loading rate (OLR) of below 2 kg COD/(m(3) d), the system was able to treat wastewater between 4.6 and 36 g O&G/L and the system remained stable for OLR at around 17 kg COD/(m(3) d) for 2.8 d, without inhibitory signals. Acclimated sludge quickly reached maximum methane production and digested substrate with high oil and grease content, observing an increase in palmitic acid the first days and constant levels of propionic acid while fatty acids were in the medium.

La Beneficenza de Lorenzo Bartolini, ¿alegoría de la Pediatría? / Lorenzo Bartolini's Beneficenze, allegory of Pediatrics?

La interpretación del grupo escultórico la Beneficenza, de Lorenzo Bartolini, es difícil. Las circunstancias históricas, sociales, culturales, artísticas y personales del autor permiten describir la obra como una alegoría del nacimiento de la Pediatría (AU)

The interpretation of the sculptural group the Beneficenza, of Lorenzo Bartolini, is difficult. The historical, social, cultural, artistic and personal circumstances of the author allow describing the work as an allegory of the birth of Pediatrics (AU)

Renal transplantation in HIV-infected patients: experience at a tertiary hospital in Spain and review of the literature.

BACKGROUND: The use of highly active antiretroviral therapy (HAART) has decreased the morbidity and mortality in HIV-infected patients. The kidney transplantation (KT) survival rate is similar to that of HIV-negative transplant recipients. The consensus criteria for the selection of HIV patients for transplantation include: no opportunistic infections, CD4 lymphocyte count greater than 200 cells/µL, and an undetectable viral load. In Spain, HIV-infected patients present with different characteristics compared to American recipients; this could influence posttransplantation outcomes. OBJECTIVE: This study analyzed the outcome and the clinical characteristics of HIV-infected patients who received KT in Spain in the HAART era. METHODS: We retrospectively reviewed the clinical charts of seven adult HIV-infected recipients of primary renal allografts between January 2001 and June 2012. Patient inclusion criteria met the American and Spanish guidelines. The immunosuppressive protocol consisted of tacrolimus, mycophenolate mofetil, and steroids. RESULTS: The median age was 44.8 years (interquartile amplitude = 9.4). The predominant mode of transmission was intravenous drug use (71.4%) and hepatitis C virus coinfection (71.4%). The most frequent cause of end-stage renal disease was glomerulonephritis (57.1%). Six patients (85.7%) were on HAART. All patients had controlled HIV infections with undetectable viral load and a median CD4 lymphocyte count of 504 cells/µL (IQA 599). Patients were followed for a median of 16.0 months (range, 3.0 to 96.6 months). Delayed graft function and acute rejection rates were 60% and 40%, respectively. The median creatinine level at the last follow-up was 1.58 mg/dL (IQA 1.15). In one case, a high-grade Epstein-Barr virus-related B cell lymphoma was diagnosed at 83 months after renal transplantation. CONCLUSIONS: Kidney transplantation in HIV-infected patients is a safe, effective treatment for selected patients. Midterm graft survival was comparable to that of HIV-negative patients.

Economic impact of the introduction of machine perfusion preservation in a kidney transplantation program in the expanded donor era: cost-effectiveness assessment.

BACKGROUND: Kidney transplantations (KT) from expanded criteria donors (ECD) show a higher rate of delayed graft function (DGF) that increases postoperative costs because of the prolonged hospital stay as well as the needs for dialysis and additional diagnostic procedures. Hypothermic machine perfusion (MP) might be superior to cold storage (CS) to reduce the relative risks of DGF and primary nonfunction (PNF) as well as to increase 1-year graft survival. OBJECTIVE: The aim of the study was to determine the relative cost-effectiveness of two different storage methods: MP versus CS. METHODS: A probabilistic decision tree was developed to compare MP and CS as graft preservation methods. The structure of the model was populated by review of the literature and outcomes of KT from ECD in our center. The model estimated budget impact and incremental cost-effectiveness ratio in terms of DGF and PNF cases. The cost comparison of methods for KT preservation included: hospitalization and intermediate care unit stay; post-KT dialysis; graft removal; immunosuppressive regimen; treatment of acute rejection episodes; as well as costs of preservation solutions and pulsatile preservation device or storage containers. RESULTS: Resource consumption for CS stratified by graft function varied from $8,159 for immediate graft function (IGF) recipients to $10,865 for DGF recipients to $25,933 for PNF recipients. Meanwhile, resource consumption for MP varied from $9,522 for IGF to $12,228 for DGF to $27,297 for PNF recipients. The main components of resource consumption were hospitalization stay (41.5%-53.9%); graft explantation (20.2%), and the need for dialysis (16.0%). The budget impact per patient for the introduction of MP was $505. However, the incremental cost-effectiveness ratio was $3,369 for each DGF- or PNF- saved case. CONCLUSIONS: The introduction of the MP preservation technology in a KT program form ECD is cost-effective in terms of savings for DGF and PNF cases.

Treating wastewater with high oil and grease content using an Anaerobic Membrane Bioreactor (AnMBR). Filtration and cleaning assays.

An Anaerobic Membrane Bioreactor (AnMBR) pilot plant was studied to improve certain operational conditions of AnMBRs that treat high oil and grease wastewaters discharged from a snacks factory. A comparison of its performance and behavior was made with an upflow anaerobic reactor throughout the first eight weeks of its operation. Raw snack food wastewater was characterized by oil and grease concentrations of up to 6,000 mg/l, with chemical oxygen demand (COD) and biological oxygen demand (BOD(5)) concentrations of up to 22,000 and 10,300 mg/l, respectively. The AnMBR achieved COD removal efficiencies of 97% at an organic loading rate (OLR) of 5.1 kg COD/m(3) d. The filtration flux, and the suction, backwash and relaxation times for each cycle were all varied: an 11 min filtration time involving 10 s pre-relaxation, 20 s backwash and 70 s post-relaxation was finally selected. The filtration flux for long-term operation was between 6.5 and 8.0 l/m(2) h. The study also tested physical cleaning strategies such as intensive backwashing cycles and extended relaxation mode, and different chemical cleaning methods, such as chemically enhanced backwash on air and chemical cleaning by immersion.

Hemangiomas múltiples gigantes: respuesta al tratamiento con corticoides / Multiple giant hemangiomas: response to treatment with corticosteroids

La historia natural de los hemangiomas infantiles suele presentar una primera fase de crecimiento rápido seguida de otra con involución lenta y espontánea. Por este motivo el tratamiento no está indicado en la mayoría de los casos. Sin embargo, el tratamiento está justificado cuando estas lesiones interfieren con las funciones vitales del niño o producen daños estéticos importantes. En la actualidad existen diferentes opciones terapéuticas, pero los corticoides son el tratamiento más utilizado en la práctica clínica, con resultados bastante efectivos. Presentamos el caso de una niña de 7 meses que sufría una grave desfiguración por la presencia de hemangiomas múltiples gigantes y que fue tratada con éxito con corticoides sistémicos(AU)

Eritema periorbicular en el contexto de tuberculosis / Periorbicular erythema associated with tuberculosis

No disponible

Neoplasias primarias malignas múltiples en pacientes con cáncer gástrico en el área sanitaria de León / Multiple malignant primary neoplasms in patients with gastric neoplasms in the health district of León

Objetivos: analizar las características de los pacientes con tumores gástricos diagnosticados de una neoplasia primaria maligna múltiple (NPMM) en el área sanitaria de León. Pacientes y método: utilizando los datos del Registro de Tumores del Hospital de León se han seleccionado aquellos pacientes con tumores gástricos diagnosticados entre 1993 y 2002. Se realizó un seguimiento hasta el 31 de diciembre de 2004 analizando las características de los pacientes diagnosticados de una segunda neoplasia durante el periodo de seguimiento. Resultados: la prevalencia de NPMM fue del 1,96%. El 56% de los pacientes tenían antecedentes oncológicos en familiares de primer grado. Las segundas neoplasias más frecuentes fueron las digestivas (26%) y las urológicas (21%). El 87% de los pacientes fueron diagnosticados del segundo tumor en los primeros dos años. No se observaron diferencias respecto a la supervivencia entre los pacientes con NPMM sincrónicas y metacrónicas. Conclusiones: las NPMM en los pacientes con cáncer gástrico son un problema relevante. Aunque los agentes carcinógenos externos puedan actuar como promotores en el desarrollo de una segunda neoplasia, en estos pacientes parece existir una base genética que favorece el desarrollo del una NPMM. La prevención secundaria es la mejor medida para evitar el desarrollo de una NPMM

Objectives: we analyzed the characteristics of patients with gastric tumors diagnosed with multiple malignant primary neoplasm (MMPN) in the Health District of León. Material and methods: using the information in the Tumor Registry at León Hospital patients selected were those with gastric neoplasms diagnosed between 1993 and 2002. A follow-up was performed until December 31, 2004, and the characteristics of patients diagnosed with a second neoplasm were analyzed. Results: MMPN prevalence was 1,96%; 56% of patients had a history of cancer in first-degree relatives. The most frequent second neoplasms were digestive (26%) and urologic (21%); 87% of patients were diagnosed with a second neoplasm within the first two years. No significative differences in survival were observed among patients with synchronous or metachronous MMPN. Conclusions: MMPN in patients with gastric neoplasms is a relevant problem. While external carcinogenic agents could act as promoters in the development of second neoplasms, these patients seem to have a genetic background favoring the development of MMPN. Secondary prevention is the best measure to avoid MMPN development

[Analysis of the characteristics of patients with bladder cancer diagnosed of multiple neoplasms in the health district of León (Spain)]. / Análisis de las características de los pacientes con cáncer vesical diagnosticados de neoplasias múltiples en el área sanitaria de León.

OBJECTIVE: We analyzed the characteristics of the patients with bladder neoplasms who developed a multiple malignant primary neoplasm (MMPN) in the health district of León, the impact on survival and the prognostic variables. MATERIAL AND METHODS: We have used the data from the Tumor Registry of the Hospital of León and selected all those patients who were diagnosed of a bladder tumor between 1993 and 2002. They were classified into two groups: the first with 71 patients with MMPN and a second group with 159 patients with single bladder tumors diagnosed between 1996 and 1997. RESULTS: Incidence of MMPN was of 7.1 percent. More than half of the patients had familial oncologic background. The second most frequently diagnosed neoplasms were urologic, followed by gastrointestinal and respiratory. Survival of patients with MMPN was 21 percent lower than single neoplasms. Variables with prognosis significance were the stage of the second neoplasm, diagnosis of a second urologic neoplasm and surgery treatment for the second tumor. CONCLUSIONS: MMPN in patients with bladder tumors are frequent in our geographic area. The high frequency of familial oncologic antecedents in these patients suggest a genetic background. Prognosis of MMPN patients is worse than single tumors patients, but no differences were observed regarding prognosis in patients with synchronous or metachronous MMPN.

Multiple malignant primary neoplasms in patients with gatric neoplasms in the health district of León.

OBJECTIVES: We analyzed the characteristics of patients with gastric tumors diagnosed with multiple malignant primary neoplasm (MMPN) in the Health District of León. MATERIAL AND METHODS: Using the information in the Tumor Registry at León Hospital patients selected were those with gastric neoplasms diagnosed between 1993 and 2002. A follow-up was performed until December 31, 2004, and the characteristics of patients diagnosed with a second neoplasm were analyzed. RESULTS: MMPN prevalence was 1,96%; 56% of patients had a history of cancer in first-degree relatives. The most frequent second neoplasms were digestive (26%) and urologic (21%); 87% of patients were diagnosed with a second neoplasm within the first two years. No significative differences in survival were observed among patients with synchronous or metachronous MMPN. CONCLUSIONS: MMPN in patients with gastric neoplasms is a relevant problem. While external carcinogenic agents could act as promoters in the development of second neoplasms, these patients seem to have a genetic background favoring the development of MMPN. Secondary prevention is the best measure to avoid MMPN development.

Integrated anaerobic-aerobic fixed-film reactor for slaughterhouse wastewater treatment.

An integrated anaerobic-aerobic fixed-film pilot-scale reactor with arranged media was fed during 166 days with slaughterhouse wastewater. Operation temperature was 25 degrees C and the anaerobic-aerobic volume ratio was decreased from 4:1 to 3:2 and finally to 2:3. Overall organic matter removal efficiencies of 93% were achieved for an average organic loading rate of 0.77 kg COD/m3 d, and nitrogen removal efficiencies of 67% were achieved for nitrogen loading rates of 0.084 kg N/m3 d. The high internal recirculation associated to the air-lift effect linked to the aeration of a part of the reactor section caused high mixing between the anaerobic and aerobic zones, so that most organic matter was removed aerobically. The nitrification process achieved an efficiency of 91% for nitrogen loads of 0.15 kg N/m3 d when the anaerobic-aerobic volume ratio was 2:3 and was limited by dissolved oxygen concentration below 3 mg/l. The influence of the heterotrophic biomass growing in the outer biofilm was checked. Denitrification only implied the 12-34% of the total nitrogen removal and was limited by dissolved oxygen concentration in the anaerobic zone above 0.5 mg/l caused by the mixing regime. Most removed nitrogen was employed in synthesis of heterotrophic bacteria.

Nitrogen and organic matter removal from slaughterhouse wastewater in a lab-scale aerobic fixed-film bioreactor.

This paper presents the behaviour of a laboratory scale Aerobic Fixed-Film Bioreactor (Ae-FFB) with arranged media including its initial start up phase. It examines the viability of the Ae-FFB to remove nitrogen and organic matter from poultry slaughterhouse wastewater. After 12 days of operation while rapid growth of nitrifying bacteria took place, nitrogen and organic loading rates were increased progressively by up to 0.2 kg TKN m(-3) day(-1) and 0.8 kg COD m(-3) day(-1) respectively, reaching nitrogen and organic matter removal efficiencies of up to 92%. Heterotrophic bacteria, mainly placed in the suspended biomass accumulated at the bottom of the reactor, were found to be competing with nitrifying bacteria for oxygen, which limited nitrification efficiency. Despite operating with dissolved oxygen concentrations of around 3.5 mg 1(-1), an important contribution of the denitrification process was observed that removed up to 50% of oxidised nitrogen, depending on the availability of biodegradable organic matter.