N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

N-type voltage-gated calcium channel controls the release of neurotransmitters from neurons. The association of other voltage-gated calcium channels with epilepsy is well-known. The association of N-type voltage-gated calcium channels and pain has also been established. However, the relationship between this type of calcium channel and epilepsy has not been specifically reviewed. Therefore, the present review systematically summarizes existing publications regarding the genetic associations between N-type voltage-dependent calcium channel and epilepsy.

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Epilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals. Hundreds of genes involved in epilepsy are known, and their number is increasing progressively, especially with next-generation sequencing techniques. However, there are still many cases in which the results of these molecular studies do not fully explain the phenotype of the patients. Somatic mutations specific to brain tissue could contribute to the phenotypic spectrum of epilepsy. Undetectable in the genomic DNA of blood cells, these alterations can be identified in cell-free DNA (cfDNA). We aim to review the current literature regarding the detection of somatic variants in cfDNA to diagnose refractory epilepsy, highlighting novel research directions and suggesting further studies.

Degradation of Contaminants of Emerging Concern by Electrochemical Oxidation: Coupling of Ultraviolet and Ultrasound Radiations.

In this work, we study the electrochemical oxidation of methyl red, a dye present in textile industrial effluents, which is selected as the model for the degradation of Contaminants of Emerging Concern. The influence of the initial pollutant concentration (1-5 mg dm-3), applied current density (2-15 mA cm-2), and the coupling of ultraviolet or ultrasound radiation have been studied using a titanium plate as anode. The results show that electrochemical oxidation is able to efficiently remove methyl red, and the process efficiency decreases with the initial pollutant concentration. At high applied current densities, efficiency drastically decreases due to a less effective mass transfer of the pollutant on the anodic surface. On one hand, the coupling of ultrasound entails an antagonistic effect on the process efficiency, which is probably due to a massive formation of oxidant radicals followed by a fast recombination process. On the other hand, the coupling of ultraviolet radiation increases the process efficiency. Concomitantly to the oxidation processes, titanium electrode produces rising TiO2-anatase nanoparticles, boosting the mineralization process. This new finding sets up a significant improvement over conventional photocatalysis treatments using TiO2-anatase as a catalyst due to synergistic effects coming from the coupling of the electrochemical oxidation and photocatalysis process with Ti anode.

A mixed separation-immobilization method for soluble salts removal and stabilization of heavy metals in municipal solid waste incineration fly ash.

This work presents the results of a treatment process of municipal solid waste incineration (MSWI) fly ash using a solution of sodium carbonate as a stabilizing agent. The effectiveness of the treatment was evaluated by means of leaching test for waste characterization according to European Standard, with special focus on soluble chlorides and heavy metals (Zn, Cd, Pb and Cu). Chemical, XRD and DTA/DTG analysis were used to gain insight into the chemical changes induced in the fly ash by the treatment. In the fresh fly ash, the total dissolved solids and chloride concentration exceed the acceptance limits for hazardous waste whereas fresh fly ash was classified as hazardous waste concerning Pb. The carbonated fly ash was considered as non-hazardous waste according to all studied parameters. XRD and DTA/DTG analysis of treated fly ash showed that chlorine compounds have been transferred into the liquid phase during the stabilization process. The chloride removal from the ash was complete and fast irrespective of the sodium carbonate concentration and solid/liquid ratio in the stabilization process within the range studied. The treated fly ash was mainly composed by calcite and portlandite and the chemical analysis after the leaching test demonstrated that more than 98% of heavy metals remained in the treated fly ash. Therefore, the stabilization procedure of MSWI fly ash with a solution of carbonate ions achieved the separation of soluble salts and the leaching stabilization of heavy metals simultaneously in one step.

genoDraw: A Web Tool for Developing Pedigree Diagrams Using the Standardized Human Pedigree Nomenclature Integrated with Biomedical Vocabularies.

The integration of genetic information in current clinical routine has raised a need for tools to exploit family genetic knowledge. On the clinical side, an application for managing and visualizing pedigree diagrams could provide genetics specialists with an integrated environment with potential positive impact on their current practice. This article presents a web tool (genoDraw) that provides clinical practitioners with the ability to create, maintain and visualize patients' and their families' information in the form of pedigree diagrams. genoDraw implements a graph-based three-step process for generating diagrams according to a de facto standard in the area and clinical terminologies. It also complies with five characteristics identified as indispensable for the next-generation of pedigree drawing software: comprehensiveness, data-drivenness, automation, interactivity and compatibility with biomedical vocabularies. The platform was implemented and tested, confirming its potential interest to clinical routine.

Encefalopatía epiléptica del lactante: lo prioritario es un buen estudio genético / Infantile epileptic encephalopathy: a good genetic study should be a priority

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SrMnO3 Thermochromic Behavior Governed by Size-Dependent Structural Distortions.

The influence of particle size in both the structure and thermochromic behavior of 4H-SrMnO3 related perovskite is described. Microsized SrMnO3 suffers a structural transition from hexagonal (P63/mmc) to orthorhombic (C2221) symmetry at temperature close to 340 K. The orthorhombic distortion is due to the tilting of the corner-sharing Mn2O9 units building the 4H structural type. When temperature decreases, the distortion becomes sharper reaching its maximal degree at ∼125 K. These structural changes promote the modification of the electronic structure of orthorhombic SrMnO3 phase originating the observed color change. nano-SrMnO3 adopts the ideal 4H hexagonal structure at room temperature, the orthorhombic distortion being only detected at temperature below 170 K. A decrease in the orthorhombic distortion degree, compared to that observed in the microsample, may be the reason why a color change is not observed at low temperature (77 K).

Cardiopatías congénitas y cromosomopatías en vida fetal: ¿siempre cariotipo? / Congenital heart defects and chromosomal anomalies in fetal life: should a chromosomal study always be offered?

Objetivos: Analizar la relación entre las cardiopatías congénitas (CC) y las cromosomopatías en vida fetal. Método: Estudio retrospectivo realizado en un centro terciario de referencia. Seleccionamos las CC diagnosticadas prenatalmente entre 1990 y 2011, con verificación posnatal del diagnóstico y con información disponible del cariotipo. La recomendación de realizar técnica invasiva prenatal para estudio del cariotipo dependió del tipo de CC y de la existencia de otros factores de riesgo de cromosomopatía. Resultados: Se analizaron 1.384 CC. El cariotipo se estudió prenatalmente en 848 (61,3%) y en el resto o se estudió posnatalmente (172; 12,4%) o se excluyó clínicamente la presencia de cromosomopatía por la ausencia de marcadores clínicos indicativos de aquella (364; 26,3%). Existía una cromosomopatía en 363 CC (26,2%). El diagnóstico fue prenatal en 324 (89,3%) y posnatal en 39 (10,7%). En estos casos no se realizó el estudio prenatal del cariotipo principalmente por la negativa de los padres (n = 28). La CC que mostró mayor asociación con cromosomopatías fue el canal aurículo-ventricular (66,7%). Esta asociación fue nula en algunas CC como la transposición de grandes arterias o el ventrículo único. Lo mismo sucedió en la atresia tricúspide aislada y en los síndromes de heterotaxia sin anomalías ajenas a las que forman parte del síndrome. Conclusiones: Aun siendo enormemente relevante la información del cariotipo en los fetos con CC para la toma de decisiones de los padres y el pronóstico del paciente, la recomendación de dicho estudio ha de individualizarse según las características de cada caso, pudiendo evitarse los riesgos de la técnica invasiva diagnóstica en muchos casos(AU)

Objectives: To assess the relationship between congenital heart defects (CHD) and chromosomal abnormalities in fetal life. Methods: This is a retrospective study undertaken at a tertiary care referral center. Our database was queried for cases of CHD prenatally diagnosed between 1990 and 2011, with postnatal diagnostic verification, as well as information available as regards the karyotype. The recommendation for performing fetal invasive procedures relied upon the type of CHD and the presence of associated high-risk factors of chromosomal disease. Results: A total of 1,384 CHD were retrieved and analyzed. The karyotype was studied prenatally in 848 (61.3%) and in the rest was either studied postnatally (172, 12.4%) or the presence of chromosomal disease was clinically ruled out given the absence of suggestive clinical markers (364, 26.3%). Chromosomal defects were diagnosed in 363 CHD (26.2%). The diagnosis was made prenatally in 324 (89.3%), and after birth in 39 (10.7%). In most of these cases (n = 28) the parents refused fetal invasive testing. We found that atrioventricular septal defect was the CHD most associated with chromosomal abnormalities (66.7%). On the contrary, we did not observe any chromosomal defect in CHD, such as transposition of large arteries or single ventricle. Similarly, there was no abnormal karyotype in isolated tricuspid atresia or in heterotaxy syndromes presenting without anomalies other than those typically included in the disease. Conclusions: Karyotype analysis is highly relevant in fetuses with CHD, given its impact in the parental decision-making process and patient outcome. Nevertheless, the recommendation of performing fetal invasive testing should be based on the individual characteristics of any given case, and in many cases the risks associated with the invasive procedure could be avoidable(AU)

¿Se puede ofrecer una mayor calidad a un menor coste? / Accessibility plan: can offer a higher quality for a lower cost?

Objetivos. Redireccionar la demanda de patología de gravedad nivel IV-V de los Servicios de Urgencias Hospitalarios (SUH) hacia la Atención Primaria (AP) de referencia, aumentar la tecnificación en la consulta y valorar la efectividad del proyecto Plan de Accesibilidad (PA). Mejorar la calidad asistencial ofertada, disminuyendo el coste económico para lograrla. Diseño. Estudio de investigación de calidad realizado en 2010 de datos recogidos durante todo 2009, y comparativa de estos versus los obtenidos en 2008. Emplazamiento y participantes. Población de referencia asignada al ABS Sagrada Familia (23.265 usuarios). Mediciones principales. Población atendida en SUH y AP; derivada a atención especializada; programada en procesos diagnósticos y terapéuticos (radiología, laboratorio, eco-doppler, crioterapia...); visitas totales anuales, frecuentación-reiteración,... Resultados. Aumento del 86,5% de radiografías urgentes realizadas en AP (evitando derivar al SUH); 7,4% menos derivaciones a urgencias; implantación del circuito de analíticas urgentes (descolapsando el laboratorio del SUH); 13,6% menos derivaciones a cirugía vascular (por el Eco-Doppler); 5,92% menos de analíticas (gracias al Cardio-Check); 297 derivaciones menos a dermatología (por la crioterapia); 9,65% menos de derivaciones a psiquiatría (gracias a talleres grupales de salud mental); disminución de frecuentación (1,4%) y reiteración (2,3%) respecto 2007; 23,9% de derivaciones evitadas al SUH por patología nivel IV-V atendida en AP; ahorro de 57.335 € en relación a 2007. Conclusiones. Los programas que incluye el PA han demostrado su eficacia; habiendo mejorado la calidad ofertada y satisfacción del usuario, y reduciendo el gasto económico; disminuyendo también, al ser atendidas y resueltas en AP, las visitas de nivel IV-V al SUH (AU)

Objectives. Redirect demand pathology severity level IV-V of the hospital emergency room (ED) to the Primary Health Care (AP) reference, increase in technical consultation and assess the effectiveness of the proposed Accessibility Plan (PA). Improving the quality of care offered, lowering the cost to achieve it. Design. Quality research study conducted in January-2010 data collected throughout 2009, and compare them versus those obtained in 2008. Setting and participants. Population allocated to the ABS Sagrada Familia (23,265 users). Measurements. Beneficiaries in HUS AP and population due to specialized care, population scheduled diagnostic and therapeutic procedures (radiology, laboratory, echo-doppler, cryosurgery ...), total annual visits, attendance, repetition,... Results. Increased 86.5% of emergency radiographs in AP (avoiding lead to ED), 7.4% fewer referrals to the emergency; implantation circuit urgent analytical (laboratory of HUS not collapsed) 13.6% fewer referrals to vascular surgery (the Eco-Doppler), 5.92% less analytical (thank Cardio-Check), 297 fewer referrals to dermatology (for cryotherapy), 9.65% less referrals to psychiatry (through group workshops mental health), decreased frequency (1.4%) and recurrence (2.3%) over 2007, 23.9% of referrals to ED pathology avoided level IV-V served in AP; save € 57,335 on 2007. Conclusions. Programs that includes the PA has proven its effectiveness, having offered improved quality and user satisfaction, spending economic decline, to be addressed and resolved in AP, visits to level IV-V ED(AU)

¿Qué gasto farmacológico genera un diabético bien controlado? / What are the pharmacological costs of a well-controlled diabetic?

Objetivo: Evaluar el coste del tratamiento farmacológico hipoglucemiante (TFH) de los pacientesdiabéticos atendidos en un centro de atención primaria.Diseño: Estudio descriptivo transversal.Emplazamiento: Centro de Salud urbano.Participantes: Muestra aleatoria de 294 pacientes diabéticos con TFH.Mediciones principales: Variable Principal: coste anual TFH. Variables secundarias: edad, sexo,tipo de DM, médico prescriptor, grado de control de la diabetes, número de fármacos hipoglucemiantes,factores de riesgo cardiovascular y complicaciones.Resultados: Se incluyen 294 diabéticos. Edad media 71,7±13,3 años; 52,7% mujeres; 93,2%DM2; coste total TFH: 82.979 euros/año, (281,9 euros/paciente/año). El médico de familiaoriginaba el 32,3% de los tratamientos (17,7% del gasto). Presentaron un gasto medio anualsignificativamente mayor los pacientes diabéticos tipo 1, los que recibían triple terapia y loscontrolados por endocrinólogo hospitalario. En el estudio de regresión lineal múltiple las variablesque explicaron la variación en el coste fueron el tipo de DM (p<0,0001), origen de laprescripción por endocrinólogo hospitalario (p:0,002), número de fármacos hipoglucemiantes(p<0,001), presencia de retinopatía diabética (p:0,019) y daño renal (p: 0,027).Estas variables explicaron el 44,5% de la variación del coste farmacológico hipoglucemianteanual (R2: 0,445).Conclusiones: Existe gran variabilidad en el gasto originado por el TFH de nuestros pacientesdiabéticos. Es necesaria una mayor coordinación entre todos los profesionales implicados en elmanejo de los pacientes diabéticos, y además la elaboración de guías clínicas y terapéuticascompartidas, conseguiría un control más eficiente de los pacientes diabéticos(AU)

Objective: To evaluate the cost of glucose lowering treatment (GLT) in our diabetic patiients(DP).Design: Cross-sectional descriptive study.Setting: Urban primary health care centre.Participants: Random sample of 294 DP with HPT.Measurements: Principal variable: annual cost of GLT. Secondary Variables: age, sex, type ofdiabetes (DM), prescribing doctor, level of control, number of glucose lowering drugs, cardiovascularrisk factors and complications.Results: A total of 294 diabetic patients were included, with a mean age 71.7+/−13.3 years;52.7% women; 93.2% DM2; Annual cost of GLT: 82.979 euros ,(281.9 euros /patient/year). General practitioner(GP) originated 32.3% of the treatments (17.7% of the costs). Annual average expenditurewas significantly higher in DM1 patients, patients on treatment with triple therapy and patientscontrolled by an endocrinologist in a reference hospital. In the multiple linear regressionthe variables that explained the variation in the cost were the type of Diabetes mellitus(P<0.0001), prescription by hospital endocrinologist (p=0,002), number of glucose loweringdrugs(P<0.0001), diabetic retinopathy(P: 0.019) and chronic renal failure (P: 0.027). Thesevariables explained 44.5% of the annual cost variation of the GLT (R2:0.445).Conclusions: There is a wide variation in the costs arising from GLT of our diabetic patients.We conclude, it is essential to improve coordination between levels of care, encourage thedesign and use of clinical guidelines to achieve more efficient control of our patients(AU)

[What are the pharmacological costs of a well-controlled diabetic?]. / ¿Qué gasto farmacológico genera un diabético bien controlado?

OBJECTIVE: To evaluate the cost of glucose lowering treatment (GLT) in our diabetic patients (DP). DESIGN: Cross-sectional descriptive study. SETTING: Urban primary health care centre. PARTICIPANTS: Random sample of 294 DP with HPT. MEASUREMENTS: Principal variable: annual cost of GLT. Secondary Variables: age, sex, type of diabetes (DM), prescribing doctor, level of control, number of glucose lowering drugs, cardiovascular risk factors and complications. RESULTS: A total of 294 diabetic patients were included, with a mean age 71.7+/-13.3 years; 52.7% women; 93.2% DM2; Annual cost of GLT: 82.979 €,(281.9 €/patient/year). General practitioner (GP) originated 32.3% of the treatments (17.7% of the costs). Annual average expenditure was significantly higher in DM1 patients, patients on treatment with triple therapy and patients controlled by an endocrinologist in a reference hospital. In the multiple linear regression the variables that explained the variation in the cost were the type of Diabetes mellitus (P<0.0001), prescription by hospital endocrinologist (p=0,002), number of glucose lowering drugs(P<0.0001), diabetic retinopathy(P: 0.019) and chronic renal failure (P: 0.027). These variables explained 44.5% of the annual cost variation of the GLT (R(2):0.445). CONCLUSIONS: There is a wide variation in the costs arising from GLT of our diabetic patients. We conclude, it is essential to improve coordination between levels of care, encourage the design and use of clinical guidelines to achieve more efficient control of our patients.

[Accessibility plan: can offer a higher quality for a lower cost?]. / ¿Se puede ofrecer una mayor calidad a un menor coste? Proyecto-plan de accesibilidad.

OBJECTIVES: Redirect demand pathology severity level IV-V of the hospital emergency room (ED) to the Primary Health Care (AP) reference, increase in technical consultation and assess the effectiveness of the proposed Accessibility Plan (PA). Improving the quality of care offered, lowering the cost to achieve it. DESIGN: Quality research study conducted in January-2010 data collected throughout 2009, and compare them versus those obtained in 2008. SETTING AND PARTICIPANTS: Population allocated to the ABS Sagrada Familia (23,265 users). MEASUREMENTS: Beneficiaries in HUS AP and population due to specialized care, population scheduled diagnostic and therapeutic procedures (radiology, laboratory echo-doppler, cryosurgery ...), total annual visits, attendance, repetition,... RESULTS: Increased 86.5% of emergency radiographs in AP (avoiding lead to ED), 7.4% fewer referrals to the emergency; implantation circuit urgent analytical (laboratory of HUS not collapsed) 13.6% fewer referrals to vascular surgery (the Eco-Doppler), 5.92% less analytical (thank Cardio-Check), 297 fewer referrals to dermatology (for cryotherapy), 9.65% less refe- rrals to psychiatry (through group workshops mental health), decreased frequency (1.4%) and recurrence (2.3%) over 2007, 23.9% of referrals to ED pathology avoided level IV-V served in AP; save ∈ 57,335 on 2007. CONCLUSIONS: Programs that includes the PA has proven its effectiveness, having offered improved quality and user satisfaction, spending economic decline, to be addressed and resolved in AP visits to level IV-V ED.

Análisis de las incapacidades laborales por depresión en mujeres / Analysis of work disability due to depression in women

Objetivo: Analizar la duración del proceso de incapacidad laboral (IT) en mujeres diagnosticadas de depresión endógena, depresión reactiva o trastorno ansioso-depresivo, de junio de 2004 a octubre de 2006, y ver las posibles diferencias con las IT en varones con los mismos diagnósticos y durante el mismo período. Material y método: Estudio descriptivo y transversal. Revisión de las IT informatizadas y codificadas según la clasificación CIAP-1 para atención primaria correspondientes a los diagnósticos estudiados, de junio de 2004 a octubre de 2006. Resultados: El total de IT fue de 6.079 (el 43,3% son varones y el 56,71%, mujeres); 423 (6,9%) IT tienen los diagnósticos estudiados y de éstas un 64,5% corresponde a mujeres. La distribución por grupos de edad fue: el 51% < 30 años; el 60,3%, 30-40 años; el 77,7%, 41-50 años; el 68,4%, 51-60 años, y el 59,1%, > 60 años. La duración media de las IT globales fue de 56,82 ± 8,44 días en las mujeres y de 47,29 ± 3,16 en los varones. La duración de las IT en días por diagnósticos estudiados es de 89,07 ± 13,15 días para las mujeres y de 73,94 ± 5,71 días para los varones. Conclusiones: Dado que la prevalencia y la duración de las IT en los diagnósticos estudiados es mayor en las mujeres, deberían incrementarse los programas específicos para mujeres de detección precoz, valoración, seguimiento y tratamiento de estas afecciones. Así se podría minimizar el impacto en la calidad de vida de la mujer y de su vida laboral

Objective: To analyze the duration of the process of work disability (WD) in women diagnosed with endogenous depression, reactive depression, or anxious-depressive disorder from June 2004 to October 2006 and to determine possible differences in WD for the same diagnoses in men during the same period. Material and method: A cross-sectional descriptive study was performed through a review of computerized WD coded according to the CIAP-1 classification for primary care and corresponding to the diagnoses included in this study from June 2004 to October 2006. Results: The total number of persons with work disability was 6,079 (43.30% men and 56.71% women). Of the total, 423 (6.9%) had received the diagnoses included in this study. Of these, 64.5% were women. Distribution by age groups and sex was as follows: < 30 years: 51.5%, 30-40 years: 60.3%, 41-50 years: 77.7%, 51-60 years: 68.4%, > 60 years: 59.1%. The mean duration in days of WD as a whole was 56.82 ± 8.44 in women and 47.29 ± 3.16 in men. The duration in days of WD for the study diagnoses was 89.07 ± 13.15 in women and 73.94 ± 5.71 in men. Conclusions: The prevalence and duration of WD for the diagnoses included in this study was greater in women. Consequently, specific programs for the early detection, evaluation, follow-up, and treatment of these disorders in women should be implemented to minimize their impact on women's quality of life and occupational life

Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis.

Mutations of the ataxia-telangiectasia-mutated (ATM) gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). This study reports the first A-T prenatal diagnosis performed in Spain by direct molecular analysis. The pregnant woman had a previous child suffering from A-T due to a deletion in the ATM gene. The ATM coding region was sequenced in the A-T patient and her parents. Then, a specific polymerase chain reaction (PCR) to detect the deletion was performed for prenatal diagnosis. Additionally, polymorphic HLA loci were examined in order to exclude the possible contamination by maternal DNA. In this family of Gypsy origin, we carried out a rapid molecular diagnosis of A-T. Then, a prenatal diagnosis was carried out, identifying the deletion in the fetal DNA. Additionally, we performed a population study in unrelated Spanish Gypsies and in unrelated controls, showing that the deletion described could be a hotspot in the Spanish Gypsy population. The size of the coding region and the genomic structure, together with the absence of hotspots, make the mutation screening of the ATM gene difficult. The ability to identify ATM mutations provides a tool that can be applied in confirmatory diagnosis, genetic counselling, carrier prediction and prenatal diagnosis.

Chromosomal anomalies in patients with short stature.

BACKGROUND: The incidence of chromosomal anomalies in patients with short stature (SS) was studied in order to determine the value of routine karyotyping in this population. METHODS: This study was a retrospective evaluation of 972 patients (719 females and 253 males) with SS. Chromosomal analysis was performed on cultured peripheral lymphocytes. RESULTS: The incidence of chromosome aberrations in males was 2.77% (7/253) and in females 9.8% (71/719). Several groups were made according to clinical features and familial antecedents of SS. We observed different incidence rates of chromosomal anomalies among groups of patients, mainly in females. The incidence in the group without familial antecedents was 18.89%, however, in females with familial antecedents it was 4.45%. In females with isolated SS we detected karyotype anomalies in the 3.98%, while in patients with phenotypic features, amenorrhoea and SS the incidence was 77.78%. In females the most frequent anomaly was Turner syndrome, present in 55 patients (77.46%). CONCLUSION: Karyotype analysis is recommended for all girls with unexplained SS and associated abnormalities. In females with isolated SS a cost-benefit analysis must be done in each case.