Polimorfismos génicos del receptor de la vitamin D. Implicaciones clínicas / Vitamin D receptor Gene polymorphisms. Clinical implications

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Influencia del ácido docosahexaenoico y la hipoxia perinatal moderada en la resolución de un laberinto en T en ratas Wistar de un mes de edad / The influence of docosahexaenoic acid and moderate perinatal hypoxia on the performance of one-month-old Wistar rats in a T-maze test

Introducción. El ácido docosahexaenoico (DHA) tiene una influencia favorable en el neurodesarrollo tanto de niños como de modelos animales. Las lesiones inducidas por la asfixia perinatal constituyen una causa importante de trastornos del neurodesarrollo. Objetivo. Se plantea si el efecto positivo en el desarrollo del sistema nervioso central se puede inducir en animales sometidos a condiciones de hipoxia moderada. Materiales y métodos. Se dividió un total de 140 crías de rata Wistar en dos grupos principales de 70 cada uno. Un grupose crió con dieta suplementada con DHA, mientras que el otro lo fue con dieta normal. La mitad de cada grupo fue sometida a una situación de hipoxia neonatal inmediata (FiO2 = 0,05; 1 h). Todas las ratas fueron sometidas individualmente a un test de laberinto en T para valorar su evitación pasiva, entre otras habilidades, los días P25 (pruebas 1, 2 y 3) y P30 (prueba 4). Todos los ensayos fueron registrados en vídeo y revisados para tomar nota del tiempo de resolución del test (TRT), del número de choques eléctricos recibidos (NCE) y del porcentaje de resoluciones correctas del test (RCT). Resultados. Los animales del grupo control mejoraron significativamente el TRT (p < 0,01). El grupo de dieta suplementada con DHA sólo mejoró la RCT (p < 0,001). El grupo de hipoxia mejoró el TRT (p < 0,014) y el NCE (p < 0,004). El grupo de hipoxia y con dieta con DHA mejoró el NCE (p < 0,0000) y la RCT (p < 0,0001). Conclusiones. Los grupos sometidos a hipoxia moderada o a dieta suplementada con DHA de forma independiente mejoraron los resultados del laberinto en T en relación con el grupo de control. Las ratas sometidas a las dos condiciones experimentales a la vez mejoraron su perfil de resolución del laberinto en T con respecto al grupo de control y a los animales sometidos a una de las dos condiciones experimentales por separado (AU)

Introduction. Docosahexaenoic acid (DHA) has been shown to improve neurodevelopment in both human observations and animal models. Perinatal hypoxic insults have been recognized as a major cause of neurodevelopmental disturbances. Aim. To find out if the CNS-improving effect of DHA could be induced in animals subjected to mild perinatal hypoxic conditions. Materials and methods. A total of 140 Wistar rat pups were separated into two main groups of 70 each, and one group was reared on a DHA-supplemented diet while the other was not. One half of each group was subjected to immediate post-natal hypoxia (FiO2 = 0.05, 1 h). All the rats were individually subjected to a T-maze to test their passive-avoidance performance, among other skills, on days P25 (three trials) and P30 (one trial). All the trials were videotaped and reviewed to record the maze-solving time (MST), the number of electrical hazards (NEH) and the correct maze-solution percentage (CMS). Results. The animals in the control group significantly improved their MST (p < 0.01). The group on the DHA-supplemented diet improved only the CMS (p < 0.001). The hypoxic group improved the MST (p < 0.014) and the NEH (p < 0.004). The hypoxic group on the DHA-supplemented diet improved the NEH (p < 0.0000) and the CMS (p < 0.0001). Conclusions. The subgroups subjected to one experimental condition or the other (DHA-supplemented diet or perinatal hypoxia) independently improved their T-maze-test performance more than the absolute control group. The rats subjectedto both conditions appeared to improve their T-maze-test solution performance more effectively than the control groups and the groups subjected to only one of the two conditions (AU)

[The influence of docosahexaenoic acid and moderate perinatal hypoxia on the performance of one-month-old Wistar rats in a T-maze test]. / Influencia del acido docosahexaenoico y la hipoxia perinatal moderada en la resolucion de un laberinto en T en ratas Wistar de un mes de edad.

INTRODUCTION: Docosahexaenoic acid (DHA) has been shown to improve neurodevelopment in both human observations and animal models. Perinatal hypoxic insults have been recognized as a major cause of neurodevelopmental disturbances. AIM: To find out if the CNS-improving effect of DHA could be induced in animals subjected to mild perinatal hypoxic conditions. MATERIALS AND METHODS: A total of 140 Wistar rat pups were separated into two main groups of 70 each, and one group was reared on a DHA-supplemented diet while the other was not. One half of each group was subjected to immediate post-natal hypoxia (FiO2 = 0.05, 1 h). All the rats were individually subjected to a T-maze to test their passive-avoidance performance, among other skills, on days P25 (three trials) and P30 (one trial). All the trials were videotaped and reviewed to record the maze-solving time (MST), the number of electrical hazards (NEH) and the correct maze-solution percentage (CMS). RESULTS: The animals in the control group significantly improved their MST (p < 0.01). The group on the DHA-supplemented diet improved only the CMS (p < 0.001). The hypoxic group improved the MST (p < 0.014) and the NEH (p < 0.004). The hypoxic group on the DHA-supplemented diet improved the NEH (p < 0.0000) and the CMS (p < 0.0001). CONCLUSIONS: The subgroups subjected to one experimental condition or the other (DHA-supplemented diet or perinatal hypoxia) independently improved their T-maze-test performance more than the absolute control group. The rats subjected to both conditions appeared to improve their T-maze-test solution performance more effectively than the control groups and the groups subjected to only one of the two conditions.

Receptores de la 1, 25 dihidroxi vitamina D3 / 1.25 dihydroxy Vitamin D3 receptors

El metabolito polar de la vitamina D producido en el riñón, denominado 1α, 25-dihidroxivitamina D3 (1,25D), es considerado hoy como una hormona esteroidea funcionando como es propio de ellas por medio de la interacción con su receptor afín, el llamado receptor de la vitamina D (VCR, vitamin D receptor). En las cuatro últimas décadas el papel de la vitamina D ha crecido para pasar del exclusivo de regulación de la homeostasis cálcica a tener unas acciones más amplias e importantes en relación con la salud humana y ello ha sido posible gracias al estudio de localización y actividad del VDR en diversos órganos y tejidos

The polar metabolite of vitamin D produced by the kidney, called 1,25 dihydroxy-vitamin D3 is currently considered as a steroid hormone that functions, as characteristic of them, through the interaction of its similar receptor, the socalled vitamin D receptor (VDR). In the last four decades the role of the vitamin D has gone form only being the regulation of calcium homeostasis to having more extensive and important actions in relationship with human health. This has been possible thanks to the study of the location and activity of the VDR in different organs and tissues (AU)

Púrpura fulminante posvaricelosa: potencialmente mortal / Post-varicella purpura fulminans: Potentially fatal

Aunque la varicela suele ser una enfermedad benigna, algunas complicaciones pueden ser mortales, como la púrpura fulminante posvaricelosa. Su mecanismo fisiopatogénico se explica por la producción de anticuerpos para las proteínas C y S de la cascada de la coagulación, lo que puede tener consecuencias funestas con la producción de coagulopatía de consumo en personas con déficits parciales de estas proteínas. El tratamiento es sintomático y consiste básicamente en la administración de plasma fresco congelado (para suplir las proteínas que se consumen), de antitrombina III y heparinización (para tratar la producción de trombos) y de antiinflamatorios, como los corticoides; sin embargo, se están introduciendo tratamientos nuevos, como la prostaglandina E1 intravenosa y la prostaciclina (AU)

Although varicella is usually a benign disease, some of its complications, such as post-varicella purpura fulminans, can be fatal. Its pathophysiological mechanism is caused by the production of antibodies to protein C and protein S in the coagulation cascade. This could have fatal consequences for those patients with partial deficiency of these proteins that develop disseminated intravascular coagulation. Treatment is symptomatic: fresh frozen plasma to treat protein depletion, antithrombin III and heparinization against thrombus formation, and anti-inflammatory drugs (steroids). However, new therapies, such as prostaglandin E1 IV and prostacyclin, are being introduced (AU)

[Post-varicella purpura fulminans: potentially fatal]. / Púrpura fulminante posvaricelosa: potencialmente mortal.

Although varicella is usually a benign disease, some of its complications, such as post-varicella purpura fulminans, can be fatal. Its pathophysiological mechanism is caused by the production of antibodies to protein C and protein S in the coagulation cascade. This could have fatal consequences for those patients with partial deficiency of these proteins that develop disseminated intravascular coagulation. Treatment is symptomatic: fresh frozen plasma to treat protein depletion, antithrombin III and heparinization against thrombus formation, and anti-inflammatory drugs (steroids). However, new therapies, such as prostaglandin E1 IV and prostacyclin, are being introduced.

[Family impact of rotavirus gastroenteritis in children under two years]. / Impacto familiar de la gastroenteritis por rotavirus en menores de dos años.

INTRODUCTION: Acute gastroenteritis (AGE) in infants has a significant impact on the quality of life of their parents. MATERIAL AND METHODS: Cross-sectional study on the sociological family impact related to rotavirus AGE in children under 2 years. The study was carried out in 25 hospitals and 5 primary care centres in Spain. Sociodemographic, epidemiological and clinical data were recorded, as well as the symptomatology of AGE and its severity measured by the Clark scale. Stool samples were tested to determine rotavirus positive (RV+) or negative (RV-). The parents were asked to complete a a family impact questionnaire. RESULTS: Stool specimens were tested in 1087 AGE cases (584 RV+ vs 503 RV-). The 99.5 % of parents whose children were RV+ reported more worries vs. the 97.7 % of RV-, and RV+ had a higher importance score (p < 0.05). A higher percentage of RV+ parents and those with a high importance score reported more time dedicated to dehydration treatment (p < 0.05). The 82.5 % vs. 73.9 % had disruption of their household tasks, with more importance scores (p < 0.05). RV+ had a higher percentage and importance score than RV- ones in all aspects of their child's AGE symptoms, except loss of appetite. CONCLUSION: AGE produces important dysfunctional experiences in daily family life. According to parental perceptions, RV+ produces greater worries and dysfunctions in child behaviour.

[Usefulness of procalcitonin as an early diagnostic test of neonatal sepsis in newborns with risk factors for infection]. / Utilidad de la procalcitonina como prueba diagnóstica precoz de sepsis neonatal en recién nacidos con factores de riesgo de infección.

OBJECTIVE: To investigate the reliability of serum procalcitonin (PCT) as an early diagnostic test (within the first 12 hours of life) of neonatal sepsis in newborns with maternal or neonatal risk factors for infection. MATERIAL AND METHODS: We performed a prospective study of 123 newborns consecutively admitted to neonatal unit over a 2-year period with at least one risk factor for infection. We constructed a 2x2 table between the validated test (serum PCT by semi-quantitative assay, with several cut-off points: 0.5, 2 and 10 ng/ml) and the reference assay (blood culture or clinical, laboratory and microbiological confirmation of sepsis). The validity (sensitivity, specificity), safety [positive predictive value (PPV) and negative predictive value (NPV)] and likelihood ratios (LR+ and LR-) of the test were calculated. RESULTS: Serum PCT was measured within the first 12 hours of life in 95% of the patients (mean and median=6 hours). The best cut-off point for serum PCT was 2 ng/ml, and, taking subsequent clinical-laboratory-microbiological confirmation of sepsis as the best reference assay, showed a sensitivity of 100% (95% CI 65-100), specificity of 82% (95% CI 74-88), PPV of 25% (95% CI 13-44), NPV of 100% (95% CI 96-100), LR+ of 5.5 (95% CI 3.7-8.1), and LR- of 0. CONCLUSIONS: Serum PCT levels<2 ng/ml within the first 6-12 hours of life in newborns with risk factors for infection are useful as a screening assay to rule out neonatal sepsis with a sensitivity of 100% (false negatives=0% and NPV=100%). However, for subsequent confirmation a more specific assay (with a low false positive rate and high PPV) should be used, such as C-reactive protein. The higher cost of the serum PCT test should be weighed against shorter admissions as a result of its use.

Utilidad de la procalcitonina como prueba diagnóstica precoz de sepsis neonatal en recién nacidos con factores de riesgo de infección / Usefulness of procalcitonin as an early diagnostic test of neonatal sepsis in newborns with risk factors for infection

Objetivo Analizar la utilidad de la procalcitonina (Pct) como prueba diagnóstica precoz (en las primeras 12 h de vida) de sepsis neonatal en recién nacidos con factores de riesgo de infección. Material y métodos Estudio prospectivo sobre un total de 123 recién nacidos ingresados en la unidad neonatal de forma consecutiva durante 2 años por presentar algún factor de riesgo de infección. Tabla de contigencia entre la prueba validada (Pct sérica por técnica semicuantitativa, con varios puntos de corte: 0,5, 2 y 10 ng/ml) y de referencia (hemocultivo o confirmación clínico-analítico-microbiológica), y cálculo de la validez (sensibilidad, especificidad), seguridad (valor predictivo positivo [VPP] y negativo [VPN]) y cocientes de probabilidad (CP1 y CP­). Resultados La Pct se realizó en las primeras 12 h de vida en el 95 % de los casos (media y mediana = 6 h). El mejor punto de corte de Pct es 2 ng/ml, y tomando como mejor prueba de referencia la confirmación de sepsis (por datos clínico-analítico-microbiológicos) se obtiene una sensibilidad del 100 % (intervalo de confianza [IC] del 95 %: 65-100), una especificidad del 82 % (IC 95 %: 74-88), VPP = 25 % (IC 95 %: 13-44), VPN = 100 % (IC 95 %: 96-100), CP1 = 5,5 (IC 95 %: 3,7-8,1) y CP­ = 0. Conclusiones Un valor de Pct < 2 ng/ml en las primeras 6-12 h de vida en recién nacidos con factores de riesgo de infección es un adecuado parámetro bioquímico con carácter de prueba de cribado para descartar la sepsis neonatal, con una sensibilidad del 100 % (con falsos negativos = 0 % y VPN = 100 %). Sin embargo, para la ulterior confirmación se busca una prueba en serie con mucha especificidad (con falsos positivos bajos y, por tanto, un VPP alto), como la proteína C reactiva. El mayor precio de la Pct debe valorarse en relación con las ventajas de un menor tiempo de hospitalización

Objective To investigate the reliability of serum procalcitonin (PCT) as an early diagnostic test (within the first 12 hours of life) of neonatal sepsis in newborns with maternal or neonatal risk factors for infection. Material and methods We performed a prospective study of 123 newborns consecutively admitted to neonatal unit over a 2-year period with at least one risk factor for infection. We constructed a 2 × 2 table between the validated test (serum PCT by semi-quantitative assay, with several cut-off points: 0.5, 2 and 10 ng/ml) and the reference assay (blood culture or clinical, laboratory and microbiological confirmation of sepsis). The validity (sensitivity, specificity), safety [positive predictive value (PPV) and negative predictive value (NPV)] and likelihood ratios (LR+ and LR­) of the test were calculated. Results Serum PCT was measured within the first 12 hours of life in 95 % of the patients (mean and median = 6 hours). The best cut-off point for serum PCT was 2 ng/ml, and, taking subsequent clinical-laboratory-microbiological confirmation of sepsis as the best reference assay, showed a sensitivity of 100 % (95 % CI 65-100), specificity of 82 % (95 % CI 74-88), PPV of 25 % (95 % CI 13-44), NPV of 100 % (95 % CI 96-100), LR+ of 5.5 (95 % CI 3.7-8.1), and LR­ of 0. Conclusions Serum PCT levels < 2 ng/ml within the first 6-12 hours of life in newborns with risk factors for infection are useful as a screening assay to rule out neonatal sepsis with a sensitivity of 100 % (false negatives = 0 % and NPV = 100 %). However, for subsequent confirmation a more specific assay (with a low false positive rate and high PPV) should be used, such as C-reactive protein. The higher cost of the serum PCT test should be weighed against shorter admissions as a result of its use

Oftalmopatía de Graves y disfunción tiroidea: hipertiroidismo e hipotiroidismo / Grave's ophtalmopathy and thyroid dysfunction: hyperthyroidism and hypothyroidism

Se presenta el caso de dos pacientes adoles-centes con oftalmopatía infltrativa y bocio difuso, pero con una afectación funcional tiroidea muy distinta: hipertiroidismo (enfermedad de Graves) e hipotiroidismo (tiroiditis de Hashimoto). A la oftalmopatía tiroidea o de Graves cabría considerarla como una entidad nosológica propia que, si bien generalmente se acompañará de tirotoxicosis, puede asociarse con alteraciones tiroideas muy variadas (AU)

Nace la Sociedad Española de Investigación en Nutrición y Alimentación en Pediatría: SEINAP

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["Floppy infant" syndrome in twins secondary to the use of benzodiazepines during pregnancy]. / 'Floppy infant' en gemelos por uso de benzodiacepinas durante la gestación.

INTRODUCTION: Due to the pharmacological characteristics of benzodiazepines, they have been use in a wide variety of disorders, as well as during pregnancy and labor. Benzodiazepine intake during early pregnancy may be teratogenic, and their intake during late pregnancy may be associated with neonatal withdrawal syndrome and 'floppy infant' syndrome. CLINICAL CASE: A hypotonic syndrome in twins secondary to the use of diazepam in the last month of pregnancy is described. Their neurological improvement occur in the first two weeks of life, in relation with the normalization in diazepam blood levels. CONCLUSIONS: The list of possible diagnosis for floppines in newborn is extensive, and we must remember some drugs use during pregnancy. Diazepam show a rapid placental transfer with significant uptake of the drug; by this, high single doses and repeated and prolonged administration of benzodiazepines have to be avoided during pregnancy.

[Neonatal morbidity associated with meconial amniotic fluid]. / Morbilidad neonatal asociada a líquido amniótico meconial.

BACKGROUND: The significance of meconium-stained amniotic fluid (MSAF) is discussed, both in regards to obstetric and pediatric management. The primary concerns regarding MSAF have been its significance as a sign of fetal distress/perinatal asphyxia and the prevention of associated morbidity such as meconium aspiration syndrome. The objectives of our study were: (1) To know the incidence and type of MSAF, (2) to study the associated morbidity in newborns with MSAF admitted to the Neonatal Care Unit (NCU), and (3) to analyze the perinatal differences between newborns with moderate versus thick MSAF. PATIENTS AND METHODS: A retrospective study was performed to know the incidence of MSAF in all of the deliveries in our hospital during a 4 year period. The consistency of meconium was classified into 3 classes, thin (light), moderate or thick (heavy). On the other hand, a prospective analysis was undertaken to determine the morbidity of all meconium-stained neonates admitted to our NCU during this period, mainly in relation to perinatal asphyxia, pulmonary, gastrointestinal and infectious pathology and neonatal mortality. RESULTS: The presence of MASF complicates 18% of all of our deliveries with it being mild in 10.8%, moderate in 4.4% and severe in 2.8%. Of all newborns with MSAF, one third were admitted to the NCU, mainly for two reasons, association with perinatal asphyxia (124 cases) and observation of a risk of meconium aspiration syndrome (85 cases). The main neonatal morbidities associated with MSAF in our populations were perinatal asphyxia in 56.1% (32 cases of severe perinatal asphyxia and 92 non-severe), pulmonary pathology in 34% (meconium aspiration syndrome in 32 cases and other respiratory abnormalities in 43) and gastrointestinal pathology in 30.5% (transitory feeding intolerance in all cases). Four cases of meconium-stained neonates were exitus. The neonatal morbidity is significantly more frequent in relation to thick meconium and also if perinatal asphyxia is associated to MSAF. CONCLUSIONS: Although the relationship between MSAF and perinatal asphyxia is controversial, their association increases neonatal morbidity. In accordance with our results, thick meconium is implicated as a risk factor influencing the well being during the intrapartum and postpartum periods.

[Juvenile onset diabetes: the effect of education for metabolic control]. / Diabetes infanto-juvenil. Influencia de la educación en el control médico.

This study analyzes the repercusions that education about diabetes and frequent periodical checkups or intensive followups have on the metabolic control of this disease. A group of 13 young diabetics, ranging in age from 5 to 13.4, were submitted to trimestral clinical and analytical controls during a continuous 36-month period starting at the outset of their illnesses. Each received conventional insulin therapy, two daily injections of a mixture of regular insulin/NPH. Annual checkups registered 3.8 +/- 0.4. Four patients, or 30.8%, had an attack of symptomatic hypoglycemia. None of these required hospitalization for ketosis. The HblAc level at the outset of their illnesses was very high, 11.2 +/- 2.7%, but this dropped to normal levels, 7.1 +/- 1.5%, during the first trimester of treatment, and stayed quite normal for the duration of the study except at the 21-month checkup, 8.7 +/- 1.8%, and at the 33-month checkup, 8.6 +/- 1.4%. As soon as metabolic irregularities were detected, all that was necessary so that the succeeding checkups improved notably was to review the items which the patient had neglected such as diet and self-checks. The impact of the initial medical report and the educational component of the periodical checkups seem to be the keys for the quality of a child's metabolical control over time. To sum up, bear in mind that a young diabetic tends to begin to show difficulties in his/her metabolic control about 21 months after the outset of his/her disease, in spite of an intensive checkup program. To a large degree, a solution will depend on the professional competence of the medical team treating the patient, and moreover, on the degree of knowledge about diabetes which the patient and/or his/her family have received.