Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

Competency assessment of residents of Intensive Care Medicine through a simulation-based objective structured clinical evaluation (OSCE). A multicenter observational study.

OBJECTIVES: The current official model of training in Intensive Care Medicine (ICM) in Spain is based on exposure to experiences through clinical rotations. The main objective was to determine the level of competency (I novice to V independent practitioner) achieved by the residents at the end of the 3rd year of training (R3) in ICM through a simulation-based OSCE. Secondary objectives were: (1) To identify gaps in performance, and (2) To investigate the reliability and feasibility of conducting simulation-based assessment at multiple sites. DESIGN: Observational multicenter study. SETTING: Thirteen Spanish ICU Departments. PARTICIPANTS: Thirty six R3. INTERVENTION: The participants performed on five, 15-min, high-fidelity crisis scenarios in four simulation centers. The performances were video recorded for later scoring by trained raters. MAIN VARIABLES OF INTEREST: Via a Delphi technique, an independent panel of expert intensivists identified critical essential performance elements (CEPE) for each scenario to define the levels of competency. RESULTS: A total of 176 performances were analyzed. The internal consistency of the check-lists were adequate (KR-20 range 0.64-0.79). Inter-rater reliability was strong [median Intraclass Correlation Coefficient across scenarios: 0.89 (0.65-0.97)]. Competency levels achieved by R3 were: Level I (18.8%), II (35.2%), III (42.6%), IV/V (3.4%). Overall, a great heterogeneity in performance was observed. CONCLUSION: The expected level of competency after one year in the ICU was achieved only in half of the performances. A more evidence-based educational approach is needed. Multiple center simulation-based assessment showed feasibility and reliability as an evaluation method of competency. TRIAL REGISTRATION: COBALIDATION. NCT04278976. (https://register. CLINICALTRIALS: gov).

Competency assessment of residents of Intensive Care Medicine through a simulation-based objective structured clinical evaluation (OSCE). A multicenter observational study / Evaluación del nivel de competencia de residentes de Medicina Intensiva mediante una evaluación clínica, objetiva y estructurada basada en simulación (ECOE). Estudio multicéntrico observacional

Objectives The current official model of training in Intensive Care Medicine (ICM) in Spain is based on exposure to experiences through clinical rotations. The main objective was to determine the level of competency (I novice to V independent practitioner) achieved by the residents at the end of the 3rd year of training (R3) in ICM through a simulation-based OSCE. Secondary objectives were: (1) To identify gaps in performance, and (2) To investigate the reliability and feasibility of conducting simulation-based assessment at multiple sites. Design Observational multicenter study. Setting Thirteen Spanish ICU Departments. Participants Thirty six R3. Intervention The participants performed on five, 15-min, high-fidelity crisis scenarios in four simulation centers. The performances were video recorded for later scoring by trained raters. Main variables of interes Via a Delphi technique, an independent panel of expert intensivists identified critical essential performance elements (CEPE) for each scenario to define the levels of competency. Results A total of 176 performances were analyzed. The internal consistency of the check-lists were adequate (KR-20 range 0.64–0.79). Inter-rater reliability was strong [median Intraclass Correlation Coefficient across scenarios: 0.89 (0.65–0.97)]. Competency levels achieved by R3 were: Level I (18.8%), II (35.2%), III (42.6%), IV/V (3.4%). Overall, a great heterogeneity in performance was observed. Conclusio The expected level of competency after one year in the ICU was achieved only in half of the performances. A more evidence-based educational approach is needed. Multiple center simulation-based assessment showed feasibility and reliability as an evaluation method of competency (AU)

Objetivos El modelo de formación en medicina intensiva (MI) en España se basa en la experiencia adquirida durante una serie de rotaciones programadas por diferentes áreas clínicas. El objetivo principal del estudio fue determinar el nivel de competencia (I principiante – V autónomo) de los residentes de MI al finalizar el tercer año de residencia (R3) mediante una ECOE basada en simulación. Objetivos secundarios: 1) identificar brechas en el desempeño; 2) investigar la fiabilidad y validez de una ECOE simulada multicéntrica como método de evaluación. Diseño Estudio multicéntrico observacional. Ámbito Trece servicios españoles de Medicina Intensiva. Participantes Treinta y seis R3. Intervención Los 36 R3 participaron en cinco escenarios clínicos simulados de 15 minutos de duración en cuatro centros de simulación. Las actuaciones se grabaron en video y posteriormente se calificaron por pares de expertos. Variables de interés principales Un panel de intensivistas expertos seleccionó mediante el método Delphi los elementos críticos esenciales de cada escenario para definir los niveles de competencia. Resultados La consistencia interna de los listados de verificación fue adecuada (KR-20:0,64-0,79). La fiabilidad interjueces fue elevada (coeficiente de correlación intraclase [mediana]: 0,89 [0,65-0,97]). Los niveles de competencia conseguidos fueron: nivel I (18,8%), II (35,2%), III (42,6%), IV/V (3,4%). Globalmente, se observó una gran heterogeneidad en el desempeño. Conclusión El nivel de competencia esperado se logró únicamente en la mitad de las actuaciones. Se necesita un modelo de formación más basado en objetivos y evidencias. La evaluación mediante escenarios simulados en múltiples centros demostró ser factible y fiable (AU)

The unknown third - Hydrogen isotopes in tree-ring cellulose across Europe.

This is the first Europe-wide comprehensive assessment of the climatological and physiological information recorded by hydrogen isotope ratios in tree-ring cellulose (δ2Hc) based on a unique collection of annually resolved 100-year tree-ring records of two genera (Pinus and Quercus) from 17 sites (36°N to 68°N). We observed that the high-frequency climate signals in the δ2Hc chronologies were weaker than those recorded in carbon (δ13Cc) and oxygen isotope signals (δ18Oc) but similar to the tree-ring width ones (TRW). The δ2Hc climate signal strength varied across the continent and was stronger and more consistent for Pinus than for Quercus. For both genera, years with extremely dry summer conditions caused a significant 2H-enrichment in tree-ring cellulose. The δ2Hc inter-annual variability was strongly site-specific, as a result of the imprinting of climate and hydrology, but also physiological mechanisms and tree growth. To differentiate between environmental and physiological signals in δ2Hc, we investigated its relationships with δ18Oc and TRW. We found significant negative relationships between δ2Hc and TRW (7 sites), and positive ones between δ2Hc and δ18Oc (10 sites). The strength of these relationships was nonlinearly related to temperature and precipitation. Mechanistic δ2Hc models performed well for both genera at continental scale simulating average values, but they failed on capturing year-to-year δ2Hc variations. Our results suggest that the information recorded by δ2Hc is significantly different from that of δ18Oc, and has a stronger physiological component independent from climate, possibly related to the use of carbohydrate reserves for growth. Advancements in the understanding of 2H-fractionations and their relationships with climate, physiology, and species-specific traits are needed to improve the modelling and interpretation accuracy of δ2Hc. Such advancements could lead to new insights into trees' carbon allocation mechanisms, and responses to abiotic and biotic stress conditions.

Acute respiratory distress syndrome due to COVID-19. Clinical and prognostic features from a medical Critical Care Unit in Valencia, Spain / Síndrome de dificultad respiratoria aguda asociado a la COVID-19. Características clínicas y de pronóstico en una unidad de cuidados intensivos de Valencia, España

OBJECTIVE: Information from critically ill coronavirus disease 2019 (COVID-19) patients is limited and in many cases coming from health systems approaches different from the national public systems existing in most countries in Europe. Besides, patient follow-up remains incomplete in many publications. Our aim is to characterize acute respiratory distress syndrome (ARDS) patients admitted to a medical critical care unit (MCCU) in a referral hospital in Spain. DESIGN: Retrospective case series of consecutive ARDS COVID-19 patients admitted and treated in our MCCU. SETTING: 36-bed MCCU in referral tertiary hospital. PATIENTS AND PARTICIPANTS: SARS-CoV-2 infection confirmed by real-time reverse transcriptase–polymerase chain reaction (RT-PCR) assay of nasal/pharyngeal swabs. INTERVENTIONS: None. MAIN VARIABLES OF INTEREST: Demographic and clinical data were collected, including data on clinical management, respiratory failure, and patient mortality. RESULTS: Forty-four ARDS COVID-19 patients were included in the study. Median age was 61.50 (53.25 - 67) years and most of the patients were male (72.7%). Hypertension and dyslipidemia were the most frequent co-morbidities (52.3 and 36.4% respectively). Steroids (1mg/Kg/day) and tocilizumab were administered in almost all patients (95.5%). 77.3% of the patients needed invasive mechanical ventilation for a median of 16 days [11-28]. Prone position ventilation was performed in 33 patients (97%) for a median of 3 sessions [2-5] per patient. Nosocomial infection was diagnosed in 13 patients (29.5%). Tracheostomy was performed in ten patients (29.4%). At study closing all patients had been discharged from the CCU and only two (4.5%) remained in hospital ward. MCCU length of stay was 18 days [10-27]. Mortality at study closing was 20.5% (n 9); 26.5% among ventilated patients. CONCLUSIONS: The seven-week period in which our MCCU was exclusively dedicated to COVID-19 patients has been challenging. Despite the severity of the patients and the high need for invasive mechanical ventilation, mortality was 20.5%

OBJETIVO: La información de pacientes críticos con enfermedad por coronavirus 2019 (COVID-19) es limitada y, en muchos casos, proviene de sistemas de salud diferentes a la organización pública de la mayoría de los países de Europa. Además, el seguimiento del paciente sigue siendo incompleto en muchas publicaciones. Nuestro objetivo es caracterizar a los pacientes con síndrome de distres respiratorio agudo (SDRA) ingresados en una unidad de cuidados críticos médicos (MCCU) en un hospital de referencia en España. DISEÑO: Serie retrospectiva de casos de pacientes consecutivos con SDRA por COVID-19 ingresados y tratados en nuestra MCCU. LUGAR: UCC de 36 camas en un hospital terciario de referencia PACIENTES Y PARTICIPANTES: Infección por SARS-CoV-2 confirmada por ensayo en tiempo real de la transcriptasa inversa-reacción en cadena de la polimerasa (RT-PCR) de hisopos nasales/faríngeos. INTERVENCIONES: Ninguna. PRINCIPALES VARIABLES DE INTERÉS: Se recopilaron datos demográficos y clínicos, incluidos datos sobre manejo clínico, insuficiencia respiratoria y mortalidad del paciente. RESULTADOS: Cuarenta y cuatro pacientes con SDRA por COVID-19 fueron incluidos en el estudio. La mediana de edad fue de 61.50 (53.25 - 67) años y la mayoría de los pacientes eran hombres (72.7%). La hipertensión y la dislipidemia fueron las comorbilidades más frecuentes (52,3 y 36,4%, respectivamente). Se administraron esteroides (1mg/kg/día) y tocilizumab en casi todos los pacientes (95,5%). El 77,3% de los pacientes necesitaron ventilación mecánica invasiva durante una mediana de 16 días [11-28]. La ventilación en posición prono se realizó en 33 pacientes (97%) con una mediana de 3 sesiones [2-5] por paciente. Se diagnosticó una infección nosocomial en 13 pacientes (29,5%). La traqueotomía se realizó en diez pacientes (29,4%). Al cierre del estudio, todos los pacientes habían sido dados de alta de la MCCU y solo dos permanecían hospitalizados. La estancia en MCCU fue de 18 días [10-27]. La mortalidad al cierre del estudio fue del 20,5% (n 9); 26.5% para pacientes ventilados. CONCLUSIONES: El período de siete semanas en el que nuestra MCCU se dedicó exclusivamente a pacientes con COVID-19 ha sido un gran desafío. A pesar de la gravedad de los pacientes y la elevada necesidad de ventilación mecánica invasiva, la mortalidad fue del 20,5%

Acute respiratory distress syndrome due to COVID-19. Clinical and prognostic features from a medical Critical Care Unit in Valencia, Spain.

OBJECTIVE: Information from critically ill coronavirus disease 2019 (COVID-19) patients is limited and in many cases coming from health systems approaches different from the national public systems existing in most countries in Europe. Besides, patient follow-up remains incomplete in many publications. Our aim is to characterize acute respiratory distress syndrome (ARDS) patients admitted to a medical critical care unit (MCCU) in a referral hospital in Spain. DESIGN: Retrospective case series of consecutive ARDS COVID-19 patients admitted and treated in our MCCU. SETTING: 36-bed MCCU in referral tertiary hospital. PATIENTS AND PARTICIPANTS: SARS-CoV-2 infection confirmed by real-time reverse transcriptase-polymerase chain reaction (RT-PCR) assay of nasal/pharyngeal swabs. INTERVENTIONS: None MAIN VARIABLES OF INTEREST: Demographic and clinical data were collected, including data on clinical management, respiratory failure, and patient mortality. RESULTS: Forty-four ARDS COVID-19 patients were included in the study. Median age was 61.50 (53.25 - 67) years and most of the patients were male (72.7%). Hypertension and dyslipidemia were the most frequent co-morbidities (52.3 and 36.4% respectively). Steroids (1mg/Kg/day) and tocilizumab were administered in almost all patients (95.5%). 77.3% of the patients needed invasive mechanical ventilation for a median of 16 days [11-28]. Prone position ventilation was performed in 33 patients (97%) for a median of 3 sessions [2-5] per patient. Nosocomial infection was diagnosed in 13 patients (29.5%). Tracheostomy was performed in ten patients (29.4%). At study closing all patients had been discharged from the CCU and only two (4.5%) remained in hospital ward. MCCU length of stay was 18 days [10-27]. Mortality at study closing was 20.5% (n 9); 26.5% among ventilated patients. CONCLUSIONS: The seven-week period in which our MCCU was exclusively dedicated to COVID-19 patients has been challenging. Despite the severity of the patients and the high need for invasive mechanical ventilation, mortality was 20.5%.

Acute respiratory distress syndrome due to COVID-19. Clinical and prognostic features from a medical Critical Care Unit in Valencia, Spain.

Objective: Information from critically ill coronavirus disease 2019 (COVID-19) patients is limited and in many cases coming from health systems approaches different from the national public systems existing in most countries in Europe. Besides, patient follow-up remains incomplete in many publications. Our aim is to characterize acute respiratory distress syndrome (ARDS) patients admitted to a medical critical care unit (MCCU) in a referral hospital in Spain. Design: Retrospective case series of consecutive ARDS COVID-19 patients admitted and treated in our MCCU. Setting: 36-bed MCCU in referral tertiary hospital. Patients and participants: SARS-CoV-2 infection confirmed by real-time reverse transcriptase-polymerase chain reaction (RT-PCR) assay of nasal/pharyngeal swabs. Interventions: None. Main variables of interest: Demographic and clinical data were collected, including data on clinical management, respiratory failure, and patient mortality. Results: Forty-four ARDS COVID-19 patients were included in the study. Median age was 61.50 (53.25 - 67) years and most of the patients were male (72.7%). Hypertension and dyslipidemia were the most frequent co-morbidities (52.3 and 36.4% respectively). Steroids (1mg/Kg/day) and tocilizumab were administered in almost all patients (95.5%). 77.3% of the patients needed invasive mechanical ventilation for a median of 16 days [11-28]. Prone position ventilation was performed in 33 patients (97%) for a median of 3 sessions [2-5] per patient. Nosocomial infection was diagnosed in 13 patients (29.5%). Tracheostomy was performed in ten patients (29.4%). At study closing all patients had been discharged from the CCU and only two (4.5%) remained in hospital ward. MCCU length of stay was 18 days [10-27]. Mortality at study closing was 20.5% (n 9); 26.5% among ventilated patients. Conclusions: The seven-week period in which our MCCU was exclusively dedicated to COVID-19 patients has been challenging. Despite the severity of the patients and the high need for invasive mechanical ventilation, mortality was 20.5%.

Objetivo: La información de pacientes críticos con enfermedad por coronavirus 2019 (COVID-19) es limitada y, en muchos casos, proviene de sistemas de salud diferentes a la organización pública de la mayoría de los países de Europa. Además, el seguimiento del paciente sigue siendo incompleto en muchas publicaciones. Nuestro objetivo es caracterizar a los pacientes con síndrome de distres respiratorio agudo (SDRA) ingresados en una unidad de cuidados críticos médicos (MCCU) en un hospital de referencia en España. Diseño: Serie retrospectiva de casos de pacientes consecutivos con SDRA por COVID-19 ingresados y tratados en nuestra MCCU. Lugar: UCC de 36 camas en un hospital terciario de referencia. Pacientes y participantes: Infección por SARS-CoV-2 confirmada por ensayo en tiempo real de la transcriptasa inversa-reacción en cadena de la polimerasa (RT-PCR) de hisopos nasales/faríngeos. Intervenciones: Ninguna. Principales variables de interés: Se recopilaron datos demográficos y clínicos, incluidos datos sobre manejo clínico, insuficiencia respiratoria y mortalidad del paciente. Resultados: Cuarenta y cuatro pacientes con SDRA por COVID-19 fueron incluidos en el estudio. La mediana de edad fue de 61.50 (53.25 - 67) años y la mayoría de los pacientes eran hombres (72.7%). La hipertensión y la dislipidemia fueron las comorbilidades más frecuentes (52,3 y 36,4%, respectivamente). Se administraron esteroides (1mg/kg/día) y tocilizumab en casi todos los pacientes (95,5%). El 77,3% de los pacientes necesitaron ventilación mecánica invasiva durante una mediana de 16 días [11-28]. La ventilación en posición prono se realizó en 33 pacientes (97%) con una mediana de 3 sesiones [2-5] por paciente. Se diagnosticó una infección nosocomial en 13 pacientes (29,5%). La traqueotomía se realizó en diez pacientes (29,4%). Al cierre del estudio, todos los pacientes habían sido dados de alta de la MCCU y solo dos permanecían hospitalizados. La estancia en MCCU fue de 18 días [10-27]. La mortalidad al cierre del estudio fue del 20,5% (n 9); 26.5% para pacientes ventilados. Conclusiones: El período de siete semanas en el que nuestra MCCU se dedicó exclusivamente a pacientes con COVID-19 ha sido un gran desafío. A pesar de la gravedad de los pacientes y la elevada necesidad de ventilación mecánica invasiva, la mortalidad fue del 20,5%.

Functional xylem anatomy of aspen exhibits greater change due to insect defoliation than to drought.

The study of tree rings can reveal long-term records of a tree's response to the environment. This dendroecological approach, when supplemented with finer-scale observations of the xylem anatomy, can provide novel information about a tree's year-to-year anatomical and hydraulic adjustments. Here we use this method in aspen (Populus tremuloides Michx.) to identify xylem response to drought and insect defoliation. Surprisingly, we found that precipitation influenced vessel diameter mostly in the trees' youth, while this correlation was less pronounced at maturity. This is likely due to a reduction in stress the stand experiences as it ages, and reflects an ability to mediate drought stress as trees mature. Defoliation events caused consistent and profound changes in fiber anatomy likely leading to reduced structural support to vessels. We therefore expect that in years of defoliation trees may be vulnerable to drought-induced cavitation when leaf area recovers. This study highlights how the inclusion of cellular level measurements in tree ring studies provides additional information on how stress events may alter tree functioning through alterations in structure.

Analog isolated electronic dynamometer based on a magnetoresistive current sensor.

In this work, an electronic system is presented to measure the force applied by a solenoid. The originality of the work is focused on the use of a magnetoresistive current sensor to provide the isolation barrier needed in the actual industrial plant where the solenoids are working. The design of the electronic system is presented as well as experimental measurements as a result of a calibration process showing a negligible hysteresis with that specific sensor. The magnetoresistive current sensor is used to develop transmission functions rather than playing its usual sensing roles.

Assessment of chronic effects of tebuconazole on survival, reproduction and growth of Daphnia magna after different exposure times.

The effect of the fungicide tebuconazole (0.41, 0.52, 0.71 and 1.14mg/L) on survival, reproduction and growth of Daphnia magna organisms was monitored using 14 and 21 days exposure tests. A third experiment was performed by exposing D. magna to the fungicide for 14 days followed by 7 days of recovery (14+7). In order to test fungicide effects on D. magna, parameters as survival, mean whole body length, mean total number of neonates per female, mean number of broods per female, mean brood size per female, time to first brood/reproduction and intrinsic rate of natural increase (r) were used. Reproduction was seriously affected by tebuconazole. All tebuconazole concentrations tested affected the number of broods per female and day to first brood. At 14-days test, number of neonates per female and body size decreased by concentrations of tebuconazole higher than 0.52mg/L, whereas at 21-days test both parameters were affected at all the concentrations tested. Survival of the daphnids after 14 days fungicide exposure did not exhibited differences among experimental and control groups. In this experiment r value was reduced (in a 22%) when animals were exposed to concentrations of 0.71mg/L and 1.14mg/L. Survival of daphnids exposed during 21 days to 1.14mg/L declined, and the intrinsic rate of natural increase (r) decreased in a 30 % for tebuconazole concentrations higher than 0.41mg/L. Longevity of daphnids pre-exposed to tebuconazole for 14 days and 7 days in clean water did not show differences from control values and all of them survived the 21 days of the test. However, after 7 days in fungicide free medium animals were unable to restore control values for reproductive parameters and length. The maximum acceptable toxicant concentration (MATC) was calculated using the r values as parameter of evaluation. MATC estimations were 0.61mg/L and 0.46mg/L for 14 and 21 days, respectively. Results showed that the number of neonates per female was the highest sensitive parameter to the effects of tebuconazole on D. magna. On the other hand, a recovery period of 7 days in a free toxicant medium would not be longer enough to reestablish normal reproduction parameters in pre-exposed tebuconazole daphnids.

Energy reserves mobilization in the yellow eel as herbicide exposure effect.

Thiobencarb and propanil are two of the most extensive used herbicides worldwide in rice cultivation. Especially scanty is the available information regarding the effect of herbicides on fish energy resources. In the present study, the effect of sublethal exposure to these herbicides on the energy reserves of juvenile eel Anguilla anguilla was compared. Eels were exposed to 72 h to the herbicide thiobencarb (0.22 mg L(-1)) or Propanil (0.63 mg L(-1)), and allowed to recover in clean water (144 h). Caloric content was determined in liver and skeletal muscle. Fish exposed to thiobencarb rapidly mobilized energy. Reserves from liver were depleted (21%) compared to control values (2.50 kcal g(-1)) at 2 h, whereas in muscle diminished between 12 and 72 h (35%) (control value 0.89 kcal g(-1)). Energy reserves from liver normalized after 144 h in water while in the skeletal muscle were still depleted (24%). Major harmful effects were induced by propanil. Caloric content in liver diminished from the first hours (depletion of 70% at 48h exposure) and in skeletal muscle a 60% (72 h). At the end of the recovery period, energy reserves in pre-exposed eels represented less than 50% compared to control animals. The study indicated that thiobencarb and propanil would constitute a great risk to animals inhabiting freshwater bodies nearby fields of application. Judging from the results, herbicides resulted toxic enough to mobilize fish energy stores. On the other hand, a period of six days in herbicide-free water was not enough time to allow fish to restore energy budgets.

Homocistinuria; curso clínico y tratamiento dietético; a propósito de dos casos / Clinical management of homocystinuria; case report and review of the literature

La homocistinuria es un error congénito del metabolismo de la metionina que conduce al acúmulo de metionina y de su principal metabolito, homocisteína, en plasma, orina y tejidos. El acúmulo de homocisteína posee toxicidad sobre los sistemas óseo (osteoporosis), ocular (luxación del cristalino), nervioso (convulsiones, alteraciones psiquiátricas) y vascular (accidentes cerebrovasculares, enfermedad cardiovascular). Presentamos 2 casos de homocistinuria en 2 pacientes hermanos y, a continuación, revisamos las estrategias terapéuticas disponibles (AU)

Homocystinuria is a congenital disorder of methyonine metabolism that leads to increased plasmatic, urinary and tissue deposits of methyonine and its main metabolite: homocysteine. Homocysteine deposits are toxic for the skeletal system (osteoporosis), the eyes (lens dislocation), central nervous system (seizures, psychiatric disorders) and also induce vascular damage (stroke and other cardiovascular events). This article reports two patients with homocystinuria in two siblings, followed by a concise review on the therapeutic strategies available for this disorder (AU)

[Clinical management of homocystinuria: case report and review of the literature]. / Homocistinuria; curso clínico y tratamiento dietético: a propósito de dos casos.

Homocystinuria is a congenital disorder of methyonine metabolism that leads to increased plasmatic, urinary and tissue deposits of methyonine and its main metabolite: homocysteine. Homocysteine deposits are toxic for the skeletal system (osteoporosis), the eyes (lens dislocation), central nervous system (seizures, psychiatric disorders) and also induce vascular damage (stroke and other cardiovascular events). This article reports two patients with homocystinuria in two siblings, followed by a concise review on the therapeutic strategies available for this disorder.

Los minerales y la percepción sensorial durante el proceso de envejecimiento / Minerals and sensorial perception in the elderly process

El envejecimiento conlleva una disminución de la percepción sensorial afectando a la calidad de vida. Estas pérdidas sensoriales influyen en la relación del mayor con su entorno, teniendo especial relevancia en el proceso de elección de los alimentos y en la pérdida del placer de comer contribuyendo a un deterioro de su estado nutricional. Se ha postulado que los suplementos de minerales como selenio, zinc y cobre en la dieta pueden mejorar la percepción sensorial o ralentizar su deterioro en ancianos. No obstante, en una búsqueda bibliográfica en PubMed y en la colaboración Cochrane solo se han encontrado ensayos clínicos que relacionan el zinc con el gusto y la visión. El principal estudio donde se evalúa el beneficio del zinc en ancianos es el estudio ZENITH, observándose una mejoría de la sensibilidad para el sabor salado. En otro ensayo realizado en pacientes con disgeusia, el tratamiento con zinc produjo una mejoría significativa de la percepción de los sabores. En cuanto a la implicación del zinc en la visión, encontramos dos metanálisis realizados por la colaboración Cochrane, donde se revisan todos los ensayos clínicos disponibles con vitaminas y minerales para el tratamiento y la prevención de la degeneración macular asociada a la edad (DMAE), y se concluye que el zinc retrasa la progresión de la DMAE pero no es eficaz para prevenirla. El ensayo clínico más relevante es el estudio AREDS, que demuestra que el efecto beneficioso del zinc es mayor cuando se asocia con antioxidantes (AU)

Elderly involve a decreased sensorial perception that affect quality of life. This loss of perception influence between elderly patient and their environment and have an important outstanding for food chose, lost of food intake contributing to a poor nutritional status. It has been proposed minerals supplements as selenium, zinc or cupper in the diet could improve the sensorial perception and to slow down the elderly deterioration. Nevertheless, in a Pubmed and Cochrane search only have been found studies that related zinc with taste and vision. The main study that evaluate the zinc benefits in elderly is the ZENITH study, and in this study we can observe a salty taste improve sensibility. In other assay made in disgeusia patients with zinc treatment produced a significant flavors perception improvement. As far as zinc and vision implications, we'll found two metaanalysis executed with Cochrane collaboration and we can review all the clinical studies availables with minerals and vitamins for the treatment and prevention of the macular degeneration related with age, these clinical studies concluded that zinc is very effective in the macular slow down progression but doesn't have any effect in the macular prevention. The most important publication is the AREDS'study and shows that the zinc benefit is high when this mineral is associated to antioxidants agents (AU)

Malabsorción y déficit de oligoelementos / Malabsorption and trace nutrient deficiency

La malabsorción o alteración en la absorción de micronutrientes o macronutrientes es uno de los mecanismos patogénicos de malnutrición en la enfermedad de Crohn, conjuntamente con disminución de la ingesta, interacciones farmacológicas. Los oligoelementos cumplen diversas funciones esenciales para el correcto funcionamiento del organismo: antioxidante, formar parte de la hemoglobina. Presentamos un caso con enfermedad de Crohn con malabsorción severa de macronutrientes, vitaminas y oligoelementos (AU)

Malabsorption, defined as an impaired micronutrient and/or macronutriente absorption, is one of the main contributors to malnutrition in Crohn's disease, together with decreased energy intake, drug interactions and several other factors. Trace nutrients play essential roles in human physiology: they convey antioxidant properties and play structural role in haemoglobin and several other proteins. We describe a patient with Crohn's disease and severe malabsorption of macronutrients, vitamins and trace elements (AU)

Effect of optic neuritis on progressive axonal damage in multiple sclerosis patients.

OBJECTIVE: The objective of this research was to study the effect of optic neuritis (ON) on axonal damage in multiple sclerosis (MS) patients. Specifically, we compared changes over 2 years in the retinal nerve fibre layer (RNFL) between affected and contralateral eyes in MS patients with a prior history of ON. METHODS: Thirty-four patients with one unilateral definitive episode of ON were included and underwent a complete ophthalmic examination, optical coherence tomography (OCT), scanning laser polarimetry, visual evoked potentials (VEP) and pattern electroretinogram (pERG). All patients were re-evaluated at 12 and 24 months. Parameters were compared between ON-affected and contralateral eyes in an initial exploration and over the course of the follow-up. Correlations between parameter changes were analysed. RESULTS: RNFL thickness and functional parameters showed more affection in ON eyes (p ≤ 0.05), but changes in measurements during the study were similar between both groups of eyes. CONCLUSIONS: Progressive axonal loss can be detected in the optic nerve, but ON is not a risk factor for increased chronic damage in MS patients without ophthalmic relapses. Loss of the RNFL is caused by progressive degeneration associated with the disease.

Short-term exposure to sublethal tebuconazole induces physiological impairment in male zebrafish (Danio rerio).

The aim of the present study was to assess the physiological response of male zebrafish Danio rerio to the fungicide tebuconazole and recovery in fungicide-free water. Acute toxicity tests were carried out and the median lethal concentration (LC(50)) from 24 to 96 h was calculated. The fish were exposed to a sublethal fungicide concentration of 230 microg/L for 7 or 14 days and allowed to recover for 7 or 14 more days, respectively. Whole-body levels of vitellogenins, triglycerides, cholesterol, glucose, lactate and proteins as well as the activities gamma-glutamil transpeptidase (gamma-GT), alanin aminotransferase (AlAT), alkaline phosphatase (AP) and lactate dehydrogenase (LDH) were assayed; corpulence factor (k) was also calculated. Fish exhibited significant increase of vitellogenins (Vtg), which continued to increase after 14 days of recovery. Levels of glucose, lactate, cholesterol and triglycerides increased after 7 and 14 days of exposure. Finally, cholesterol and glucose recovered after 14 days of recovery whereas triglycerides and lactate continued to be elevated. Proteins and k remained unaltered the entire experiments. AAT, AlAT and AP enhanced during exposure and did not recover at the end (except AlAT). A longer recovery period should be necessary to re-establish fish physiology. These results alert about the multiple disruptive physiological actions that tebuconazole may have on fish.

Comparación a 5 años de dos técnicas de cirugía bariátrica en pacientes con obesidad mórbida seguidos en consulta enfermera / Five-year comparison of two techniques of baritatric surgery in patients with morbid obesity followed up in a nurse consultation

Objetivo: Comparar la evolución de la pérdida ponderal y las complicaciones en los pacientes sometidos a dos técnicas de cirugía bariátrica (GVA: gastroplastia vertical anillada y BP: by pass gástrico tipo Capella) realizadas en el Hospital La Paz durante los años 2000 y 2001. Material y métodos: Se intervinieron 51 pacientes (27 GVA y 24 BP), de los que 44 (22 GVA y 22 BP) completaron 1 año de seguimiento, 43 (22 GVA y 21 BP) 2 años y 28 (10 GVA y 18 BP) 5 años. Los parámetros analizados a los 6, 12, 18, 24 meses y 5 años fueron IMC (índice de masa corporal), IE (índice de eficacia), % PP (porcentaje de peso perdido), % EPP (porcentaje de exceso de peso perdido), intolerancias alimentarias, complicaciones digestivas, complicaciones quirúrgicas, actividad física y modificación de hábitos alimentarios. Resultados: Con ambas técnicas se observa una importante reducción de peso a los 6 meses (% EPP: 45,8% con GVA y 53,4% con BP). A partir de los 12 meses la pérdida de peso era significativamente superior con BP (% EPP a 2 años: 59,5% con GVA y 83% con BP). Sin embargo, a los 5 años se detecta una recuperación ponderal en ambas técnicas. A los 12 meses los pacientes del grupo GVA toleraban peor la carne y a los 18 meses los del grupo de BP toleraban peor el arroz. No se encontraron diferencias significativas en otros parámetros. Conclusión: Los resultados a largo plazo son mejores con la técnica BP que con la GVA. Hay una reducción de la eficacia a los 5 años que podría estar relacionada con la modificación de hábitos alimentarios y con el abandono del refuerzo en consulta enfermera (AU)

Aims: To compare the evolution of weight loss and complications in the patients subjected to two techniques of bariatric surgery (RVG: ring vertical gastroplasty and BP: gastric by pass type Capella) carried out in HospitalLa Paz during the years 2000 and 2001. Material and methods: 51 patients (27 RVG and 24 BP) were operated, and 44 (22 RVG and 22 BP) completed the follow-up at 1 year, 43 (22 RVG and 21 BP) at 2 years, and 28 (10 RVG and 18 BP) at 5 years. The parameters analyzed at 6, 12, 18, 24 months and 5 years were BMI (body mass index), EI (effectiveness index), % LW (percentage of lost weight), % LEW (percentage of lost excess of weight), alimentary intolerances, digestive complications, surgical complications, physical activity and modification of alimentary habits. Results: An important reduction of weight was observed at 6 months with both techniques (% LEW: 45.8% with RVG and 53.4% with BP). After 12 months the loss of weight was significantly higher with BP (% LEW at 2 years: 59.5% with RVG and 83% with BP). However, at 5 years a weight recovery was detected in both groups of patients. At 12 months the patients subjected to RVG tolerated worse the meat and at 18 months the group of BP tolerated worse the rice. There were not significant differences in other parameters. Conclusion: The long term results are better with BP than with RVG. There is a reduction of effectiveness at 5 years that could be related with the modification of alimentary habits and with giving up attendance to the nurse consultation (AU)

Tratamiento dietético de la ascitis quilosa postquirúrgica: caso clínico y revisión de la literatura / Postsurgical chylousascites: Case report and literature review

La ascitis quilosa es la acumulación de quilo en la cavidad peritoneal debido a la ruptura u obstrucción de los conductos linfáticos abdominales. Clínicamente se manifiesta por distensión abdominal. El criterio diagnóstico más útil es el aumento de los triglicéridos en el líquido ascítico. Las neoplasias son la causa más frecuente, aunque también deben considerarse etiologías menos comunes como la cirugía abdominal. El tratamiento consiste en dieta hiperproteica con restricción de la grasa y suplementos de triglicéridos de cadena media. En caso de no respuesta o contraindicación de la vía oral- enteral se opta por nutrición parenteral reservándose la cirugía para las situaciones refractarias al tratamiento conservador. Presentamos un caso de ascitis quilosa secundaria a linfadenectomía retroperitoneal (AU)

Chylous ascites derives from chyle leakage into the peritoneal cavity, either due to rupture or obstruction of abdominal lymphatic vessels. The main clinical sign is abdominal distention, while diagnosis requires the presence of triglycerides in ascitic fluid. Neoplasms are the most common cause of chylous ascites, although less common causes, such as abdominal surgery, should also be considered. The mainstay of therapy is hyperproteic diet with fat restriction and middle-chain triglycerides. Parenteral nutrition is reserved for cases in which dietary treatment fails to restore an optimal nutritional status or is contraindicated, whereas surgery is considered for patients that are deemed refractory to conservative therapy. We present a case of chylous ascites secondary to retroperitoneal lymphadenectomy (AU)

Biochemical stress response in tetradifon exposed Daphnia magna and its relationship to individual growth and reproduction.

Environmental risk assessment of chemicals toxicity requires the use of costly and labor-intensive chronic data and short-term tests provide additional information. Energy budget is used by the animals for their growth, reproduction, and metabolism and it is reduced in case of toxic stress. Tetradifon acaricide is frequently used in the European Mediterranean region and it is implicated in aquatic environmental pollution. Previous studies showed that the EC(50)-24 h of tetradifon on Daphnia magna was 8.92 mg/L. Based on that, D. magna were exposed to sublethal tetradifon concentrations of 0.10, 0.18, 0.22 and 0.44 mg/L for five days in order to investigate their effect on intermediate metabolism. Caloric content was determined as biomarker of tetradifon toxicity. Results were analyzed using one-way analysis of variance (ANOVA) and Duncan's significant difference test was used to find differences between groups (alpha was set at p=0.05). Daphnids energy content decreased as tetradifon concentration increased. At 120-h caloric content was depleted >51% at pesticide concentrations of 0.18 mg/L and higher. In order to determine a possible link between the 5-d test and the 21-d chronic test, animals under short-term test were exposed to the same pesticide concentrations known to cause adverse effects on reproduction, growth and survival. Results from the present study indicated a good correlation between the proposed 5-day test and daphnid energy budget. Comparison between both, caloric content results and the chronic effect values obtained using life-table studies, suggested a good fit between them. These studies can be used as earlier, predictive and useful tests with comparable results to the classic chronic ones. Our results indicate that caution must be done about the use of tetradifon in the aquatic environment.