Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome.

BACKGROUND: Long QT syndrome (LQTS) is an inheritable arrhythmogenic disorder associated with life-threatening arrhythmic events (LAEs). In general, patients with LQTS2 (KCNH2) and LQTS3 (SCN5A) are considered to be a greater risk of LAEs than LQTS1 (KCNQ1) patients. Gender differences are also important. Series analyzing families with the same pathogenic variants may help in the progress of elaborating strong specific genotype-phenotype management strategies. In this manuscript, we describe the phenotype of seven unrelated families, carriers of the KCNQ1 G168R pathogenic variant. METHODS: we identified all consecutive index cases referred for genetic testing with LQTS diagnosis carriers of KCNQ1 G168R variant. Genetic and clinical screening for all available relatives was performed. RESULTS: we evaluated seven unrelated families, with a total 34 KCNQ1 G168R carriers (two obligated carriers died without available EKGs to evaluate the phenotype). All index cases but one were women and three of them presented with aborted sudden cardiac death (SCD) or syncope. The presence of sudden death in these families is notable, with a total of nine unexplained sudden deaths and four aborted SCD. Phenotype penetrance was 100% in women and 37.5% in men. CONCLUSIONS: KCNQ1 G168R is a pathogenic variant, with a high penetrance among women and mild penetrance among men. Risk for LAEs in this variant seems not negligible, especially among woman, and risk stratification should always be carefully evaluated.

Valor de la determinación de la fracción N-terminal del péptido natriurético tipo B en pacientes con enfermedad renal crónica / Value of N-terminal pro-B type natriuretic peptide assessment in patients with chronic kidney disease

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Síndrome de Alström: una rara causa de miocardiopatía / Alström syndrome: a rare cause of cardiomyopathy

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Anomalous right coronary artery origin with interarterial pathway-importance of morphological origin assessment and the role of percutaneous interventionism.

Anomalies in coronary arteries (CA) are an important issue in cardiology and cardiovascular surgery. Specifically the anomalous origin of the right coronary artery (RCA) is of special importance because it is the most frequent anomaly. Clinical practice guidelines recommend the revascularization treatment in cases of interarterial pathway and documented myocardial ischemia and when hypoplasia, compression or obstruction is evident. We report two different cases of patients with anomalous origin of RCA and associated interarterial pathway. With them we want to highlight the different presentation forms of these patients and the different diagnostic alternatives available in each of the steps. In the patient with anomalous origin of the RCA and associated interarterial pathway, the first step after establishing the diagnosis is to rule out the presence of inducible ischemia. In those patients in whom ischemia induction tests are negative, the second step is to adequately assess the interarterial pathway, in order to rule out obstructions or compressions that also justify revascularization. In those cases in which all the tests are negative, the current evidence does not recommend revascularization, but adequate periodic follow-up is recommended. For this reason, we believe that the stress echocardiogram and exercise perfusion scintigraphy (based on availability and experience in each center) are fundamental because of their high sensitivity and specificity. We would also like to highlight the role that percutaneous interventionism can play in this type of clinical cases. Especially with patients of high surgical risk and in whom the percutaneous approach is feasible.

Adolescentes con Trastorno por juego en Internet (IGD): perfiles y respuesta al tratamiento / Adolescents with Internet Gaming Disorder (IGD): profiles and treatment response

Las demandas de tratamiento de adolescentes con problemas relacionados con el uso de videojuegos han incrementado significativamente. La mayoría de casos presentan un trastorno mental comórbido que compromete ambas patologías. El objetivo del presente estudio es describir los perfiles de adolescentes con Trastorno por Juego en Internet (IGD) según la comorbilidad y analizar la respuesta al tratamiento a los 3 y 6 meses. Se ha valorado una muestra de 86 pacientes que han consultado en la Unidad de Conductas Adictivas de un hospitalmediante los criterios del IGD, la entrevista semiestructurada K-SADS-PL para los trastornos mentales y la Impresión Clínica Global (ICG) para la evolución del tratamiento. Del total de pacientes, un 68,6% (n = 59) cumplían criterios para el IGD. De estos, el 45,76% corresponderían a un perfil internalizante, presentando comorbilidades con Trastornos Afectivos (44,4%), Trastornos de Ansiedad (44,4%) y Trastornos de Personalidad (11,1%). El perfil externalizante englobaría al 52,54% de la muestra, presentando Trastorno del Comportamiento Perturbador (48,4%), TDAH (29%) y Trastorno del Comportamiento Perturbador no especificado (22,6%). A diferencia de los externalizantes, los pacientes internalizantes tienen más antecedentes psiquiátricos familiares (63%), dificultades con las relaciones sociales (77,8%) y parecen utilizar los videojuegos preferentemente para escapar del malestar (66,7%). A los 3 meses el perfil externalizante muestra mejorías. Se pueden discriminar dos perfiles de adolescentes con IGD en función de los trastornos comórbidos y esto puede influir en la respuesta al tratamiento. Por ello, resulta clave valorar las comorbilidades para realizar un planteamiento más eficaz del abordaje psicoterapéutico enfocado a las especificidades de cada perfil

Demand for treatment for problems related to the use of video games have increased significantly in adolescents. Most cases have a comorbid mental disorder that jeopardises both pathologies. The aim of this study is to describe profiles of adolescents with Internet Gaming Disorder (IGD) according to comorbidity and analyze treatment response at 3 and 6 months. A sample of 86 patients which consulted in the Addictive Behavior Unit of a hospital was assessed with diagnostic criteria for IGD, the interview K-SADS-PL for mental disorders and the Clinical Global Impression (CGI) to treatment progress. Of the initial sample, 68,6% (n = 59) met diagnostic criteria for IGD. Of these, the 45,76% matched an internalizing profile, presenting comorbidity with Mood Disorders (44,4%), Anxiety Disorders (44,4%) and Personality Disorders (11,1%). The externalizing profile would comprise 52,54% of the sample presenting Disruptive Behavior Disorder (48,4%=, ADHD (29%) and Disruptive Behavior Disorders not otherwise specified (22,6%). Unlike externalizing, the internalizing patients had a family history of psychiatric problems (63%), difficulties in social relationships (77,8%) and seemed to use video games preferably to escape discomfort (66,7%). After 3 months the externalizing profile showed improvements. Comorbid disorders allow the discrimination of two IGD profiles in adolescents and these could influence treatment response. Therefore, it is important to assess comorbidities to design a more accurate intervention focused on the specificities of each profile

Internalizing and externalizing personality and subjective effects in a sample of adolescent cannabis users. / Personalidad internalizante y externalizante y efectos subjetivos en una muestra de adolescentes consumidores de cánnabis.

Cannabis is the illicit substance most widely used by adolescents. Certain personality traits such as impulsivity and sensation seeking, and the subjective effects experienced after substance use (e.g. euphoria or relaxation) have been identified as some of the main etiological factors of consumption. This study aims to categorize a sample of adolescent cannabis users based on their most dominant personality traits (internalizing and externalizing profile). Then, to make a comparison of both profiles considering a set of variables related to consumption, clinical severity and subjective effects experienced. From a cross-sectional design, 173 adolescents (104 men and 69 women) aged 13 to 18 asking for treatment for cannabis use disorder in an Addictive Behavior Unit (UCAD) from the hospital were recruited. For the assessment, an ad hoc protocol was employed to register consumption, the Millon Adolescent Clinical Inventory (MACI) and the Addiction Research Center Inventory (ARCI) 49-item short form were also administered. Factor analysis suggested a two-profile solution: Introverted, Inhibited, Doleful, Dramatizing (-), Egotistic (-), Self-demeaning and Borderline tendency scales composed the internalizing profile, and Submissive (-), Unruly, Forceful, Conforming (-) and Oppositional scales composed the externalizing profile. The comparative analysis showed that the internalizing profile has higher levels of clinical severity and more subjective effects reported than the externalizing profile. These results suggest the need to design specific intervention strategies for each profile.

El cánnabis es la sustancia ilícita más consumida por los adolescentes. Determinados rasgos de personalidad, como la impulsividad y la búsqueda de sensaciones, así como los efectos subjetivos experimentados tras el consumo (p.e. euforia o relajación), se han identificado como algunos de los principales factores etiológicos de consumo. Este estudio tiene por objetivo categorizar a una muestra de adolescentes consumidores de cánnabis en función de sus rasgos de personalidad más predominantes (perfil internalizante y externalizante) para, posteriormente, realizar una comparación de ambos perfiles a partir de un conjunto de variables asociadas al consumo, la gravedad clínica y los efectos subjetivos experimentados. A partir de un diseño transversal, se reclutaron 173 adolescentes (104 hombres y 69 mujeres) de 13 a 18 años, que demandaron tratamiento por Trastorno por Uso de Cánnabis en la Unidad de Conductas Adictivas (UCAD) del Hospital. Para la evaluación se utilizó un protocolo ad hoc para registrar el consumo, el Inventario Clínico para Adolescentes de Millon (MACI) y la versión abreviada del Addiction Research Center Inventory (ARCI)-49. El análisis factorial sugirió una solución en 2 perfiles: las escalas Introvertido, Inhibido, Pesimista, Histriónico (-), Egocéntrico (-), Autopunitivo y Tendencia límite forman el perfil internalizante, y las escalas Sumiso (-), Rebelde, Rudo, Conformista (-) y Oposicionista el externalizante. El análisis comparativo mostró que el perfil internalizante presenta mayores niveles de gravedad clínica y reporta más efectos subjetivos que el externalizante. Estos resultados sugieren la necesidad de diseñar estrategias de intervención específicas para cada perfil.

Adolescents with Internet Gaming Disorder (IGD): profiles and treatment response. / Adolescentes con Trastorno por juego en Internet (IGD): perfiles y respuesta al tratamiento.

Demand for treatment for problems related to the use of video games have increased significantly in adolescents. Most cases have a comorbid mental disorder that jeopardises both pathologies. The aim of this study is to describe profiles of adolescents with Internet Gaming Disorder (IGD) according to comorbidity and analyze treatment response at 3 and 6 months. A sample of 86 patients which consulted in the Addictive Behavior Unit of a hospital was assessed with diagnostic criteria for IGD, the interview K-SADS-PL for mental disorders and the Clinical Global Impression (CGI) to treatment progress. Of the initial sample, 68,6% (n = 59) met diagnostic criteria for IGD. Of these, the 45,76% matched an internalizing profile, presenting comorbidity with Mood Disorders (44,4%), Anxiety Disorders (44,4%) and Personality Disorders (11,1%). The externalizing profile would comprise 52,54% of the sample presenting Disruptive Behavior Disorder (48,4%=, ADHD (29%) and Disruptive Behavior Disorders not otherwise specified (22,6%). Unlike externalizing, the internalizing patients had a family history of psychiatric problems (63%), difficulties in social relationships (77,8%) and seemed to use video games preferably to escape discomfort (66,7%). After 3 months the externalizing profile showed improvements. Comorbid disorders allow the discrimination of two IGD profiles in adolescents and these could influence treatment response. Therefore, it is important to assess comorbidities to design a more accurate intervention focused on the specificities of each profile.

Las demandas de tratamiento de adolescentes con problemas relacionados con el uso de videojuegos han incrementado significativamente. La mayoría de casos presentan un trastorno mental comórbido que compromete ambas patologías. El objetivo del presente estudio es describir los perfiles de adolescentes con Trastorno por Juego en Internet (IGD) según la comorbilidad y analizar la respuesta al tratamiento a los 3 y 6 meses. Se ha valorado una muestra de 86 pacientes que han consultado en la Unidad de Conductas Adictivas de un hospitalmediante los criterios del IGD, la entrevista semiestructurada K-SADS-PL para los trastornos mentales y la Impresión Clínica Global (ICG) para la evolución del tratamiento. Del total de pacientes, un 68,6% (n = 59) cumplían criterios para el IGD. De estos, el 45,76% corresponderían a un perfil internalizante, presentando comorbilidades con Trastornos Afectivos (44,4%), Trastornos de Ansiedad (44,4%) y Trastornos de Personalidad (11,1%). El perfil externalizante englobaría al 52,54% de la muestra, presentando Trastorno del Comportamiento Perturbador (48,4%), TDAH (29%) y Trastorno del Comportamiento Perturbador no especificado (22,6%). A diferencia de los externalizantes, los pacientes internalizantes tienen más antecedentes psiquiátricos familiares (63%), dificultades con las relaciones sociales (77,8%) y parecen utilizar los videojuegos preferentemente para escapar del malestar (66,7%). A los 3 meses el perfil externalizante muestra mejorías. Se pueden discriminar dos perfiles de adolescentes con IGD en función de los trastornos comórbidos y esto puede influir en la respuesta al tratamiento. Por ello, resulta clave valorar las comorbilidades para realizar un planteamiento más eficaz del abordaje psicoterapéutico enfocado a las especificidades de cada perfil.

Personalidad internalizante y externalizante y efectos subjetivos en una muestra de adolescentes consumidores de cánnabis / Internalizing and externalizing personality and subjective effects in a sample of adolescent cannabis users

El cánnabis es la sustancia ilícita más consumida por los adolescentes. Determinados rasgos de personalidad, como la impulsividad y la búsqueda de sensaciones, así como los efectos subjetivos experimentados tras el consumo (p.e. euforia o relajación), se han identificado como algunos de los principales factores etiológicos de consumo. Este estudio tiene por objetivo categorizar a una muestra de adolescentes consumidores de cánnabis en función de sus rasgos de personalidad más predominantes (perfil internalizante y externalizante) para, posteriormente, realizar una comparación de ambos perfiles a partir de un conjunto de variables asociadas al consumo, la gravedad clínica y los efectos subjetivos experimentados. A partir de un diseño transversal, se reclutaron 173 adolescentes (104 hombres y 69 mujeres) de 13 a 18 años, que demandaron tratamiento por Trastorno por Uso de Cánnabis en la Unidad de Conductas Adictivas (UCAD) del Hospital. Para la evaluación se utilizó un protocolo ad hoc para registrar el consumo, el Inventario Clínico para Adolescentes de Millon (MACI) y la versión abreviada del Addiction Research Center Inventory (ARCI)-49. El análisis factorial sugirió una solución en 2 perfiles: las escalas Introvertido, Inhibido, Pesimista, Histriónico (-), Egocéntrico (-), Autopunitivo y Tendencia límite forman el perfil internalizante, y las escalas Sumiso (-), Rebelde, Rudo, Conformista (-) y Oposicionista el externalizante. El análisis comparativo mostró que el perfil internalizante presenta mayores niveles de gravedad clínica y reporta más efectos subjetivos que el externalizante. Estos resultados sugieren la necesidad de diseñar estrategias de intervención específicas para cada perfil

Cannabis is the illicit substance most widely used by adolescents. Certain personality traits such as impulsivity and sensation seeking, and the subjective effects experienced after substance use (e.g. euphoria or relaxation) have been identified as some of the main etiological factors of consumption. This study aims to categorize a sample of adolescent cannabis users based on their most dominant personality traits (internalizing and externalizing profile). Then, to make a comparison of both profiles considering a set of variables related to consumption, clinical severity and subjective effects experienced. From a cross-sectional design, 173 adolescents (104 men and 69 women) aged 13 to 18 asking for treatment for cannabis use disorder in an Addictive Behavior Unit (UCAD) from the hospital were recruited. For the assessment, an ad hoc protocol was employed to register consumption, the Millon Adolescent Clinical Inventory (MACI) and the Addiction Research Center Inventory (ARCI) 49- item short form were also administered. Factor analysis suggested a two-profile solution: Introverted, Inhibited, Doleful, Dramatizing (-), Egotistic (-), Self-demeaning and Borderline tendency scales composed the internalizing profile, and Submissive (-), Unruly, Forceful, Conforming (-) and Oppositional scales composed the externalizing profile. The comparative analysis showed that the internalizing profile has higher levels of clinical severity and more subjective effects reported than the externalizing profile. These results suggest the need to design specific intervention strategies for each profile

Aortitis: una causa de dolor torácico agudo poco común / Aortitis: an unusual cause of acute chest pain

No disponible

Multiresidue pesticide analysis of tuber and root commodities by QuEchERS extraction and ultra-performance liquid chromatography coupled to tandem mass spectrometry.

A simple, rapid, and reliable multiresidue method to determine 84 pesticides in potato and carrot samples by ultra-performance liquid chromatography coupled to MS/MS has been developed and fully validated for routine analysis according to ISO/IEC 17025:2005. The method makes use of a buffered Quick, Easy, Cheap, Effective, Rugged, and Safe (QuEChERS) sample preparation procedure based on a single extraction with acidified acetonitrile, followed by partitioning with salts. Chromatographic conditions were optimized in order to achieve a rapid separation in the multiple reaction monitoring mode. Performance characteristics of the method, including an estimation of measurement uncertainty using validation data, are reported for both matrixes. Calibration curves were linear from 0.010 to 0.150 mg/kg for most compounds. The LOD and LOQ were 0.006 and 0.010 mg/kg, respectively, except for fluorocloridone, fluquinconazol, and hexitiazox, which were 0.030 and 0.050 mg/kg, respectively. Recoveries obtained were in the range 70-116%, with intraday precision values < or = 20% RSD and interday precision values < or = 25% RSD at two different concentration levels. The overall uncertainty of the method was estimated at two concentrations as being lower than 34% in all cases. The method has been applied to the analysis of 70 vegetable samples, and imidacloprid and linuron were the pesticides most frequently found in potato and carrot commodities, respectively.