Hipoparatiroidismo por mutación en el gen del sensor—receptor del calcio (CASR). Aportación de dos nuevos casos / Hypoparathyroidism due to mutation in the calcium sensing receptor (CASR) gene. Presentation of two new cases

El hipoparatiroidismo secundario a mutaciones activadoras en el gen que codifica el sensor receptor del calcio, denominado hipocalcemia autosómica dominante, se caracteriza por hipercalciuria relativa. El tratamiento con calcio y vitamina D conlleva un alto riesgo de nefrocalcinosis, por ello es importante estudiar el gen del sensor receptor del calcio en pacientes con hipoparatiroidismo idiopático. Presentamos dos casos clínicos, uno de ellos con una mutación no descrita previamente (AU)

Hypoparathyroidism secondary to activating mutations in the gene encoding the calcium receptor sensor, termed autosomal dominant hypocalcemia, is characterized by relative hypercalciuria. Treatment with calcium and vitamin D carries a high risk of nephrocalcinosis, so it is important to study the gene of the calcium receptor sensor in patients with idiopathic hypoparathyroidism. We present two clinical cases, one of them with a mutation not previously described (AU)

Análisis de las urgencias de pediatría en los hospitales comarcales de la Comunidad Valenciana / Analysis of Pediatric Emergency Departments in regional hospitals of the Community of Valencia

Introducción: Se han realizado estudios en España sobre la demanda y la asistencia en los servicios de urgencias pediátricas (SUP) en los hospitales de tercer nivel; sin embargo, son escasos los realizados en hospitales comarcales. El objetivo de este estudio es conocer el funcionamiento y la organización de las urgencias pediátricas de los hospitales comarcales de la Comunidad Valenciana. Material y métodos: Encuesta remitida por correo electrónico a los servicios de pediatría de los hospitales comarcales de la Comunidad Valenciana durante enero de 2010. La encuesta contiene 54 preguntas sobre datos de contacto, del hospital, de la guardia médica y del área pediátrica de urgencias. La información relativa a la población total y menor de 15 años correspondiente al área de cobertura de cada hospital se extrae del Sistema de Información Poblacional (SIP) de la Generalitat Valenciana. Resultados: Los 15 hospitales comarcales de la Comunidad Valenciana abarcan una población SIP total de 2.450.159 (un 46,8% del total de población de la comunidad), y 376.683 (15,5%) son menores de 15 años. El número de pediatras hospitalarios es de 121 (entre 5 y 13 por hospital). En la mayoría de hospitales (12) sólo hay un pediatra de guardia que atiende al 20-30% de los niños que acuden a urgencias. Actualmente, un 11,6% de los pediatras no realizan guardias, y se calcula que en 5 años en la mayoría de los hospitales algún pediatra estará exento de ellas. Sólo 5 hospitales disponen de residentes de pediatría y 9 cuentan con la colaboración de algún pediatra de atención primaria. La urgencia pediátrica se atiende dentro del área de urgencias generales. No existe un adecuado cumplimiento de ciertos indicadores de calidad de los SUP. Conclusiones: Casi la mitad de los niños de la Comunidad Valenciana son atendidos en departamentos donde la asistencia pediátrica especializada depende de un hospital comarcal. En la actualidad estos hospitales no disponen de recursos humanos suficientes para garantizar dicha asistencia a todos los niños que acuden a urgencias (AU)

Introduction: There are some Spanish research about the demand and assistance for PEDs in Third Level Hospitals; however, few studies have examined the issue on Regional Hospitals. The focus of this study is to acknowledge the actual situation of both, organization and functioning of the Pediatric Emergency Departments in Regional Hospitals of the Valencian Community (VC). Material and methods: A web-based survey was forwarded to all Pediatric Services in Regional Hospitals in the Valencian Community during January 2010. This survey compiled 54questions about: contact data, hospital data, medical emergency, and data on medical duty and pediatric emergency service data. Demographic data related to global and under 15 years old population corresponds to the Sanitary Coverage Area of each hospital and were obtained from the Population Information System (SIP) of the Council of the Generalitat Valenciana. Results: A total population of 2,450,159 (46.8% of the total of the Valencian Community population) is attended in 15 Regional Hospitals of the VC. 15.5% (376,683) are under 15 years of age. There are a total number of 121 pediatric physicians (PP) (5-13 per hospital). In most of the hospitals (12) there is only one pediatrician on duty that sees 20-30% of the children that go to the emergency guard. Nowadays 11.6% of the pediatricians are exempt from being on-call duty and in the next5 years there will be exempt pediatricians in most hospitals. Only 5 hospitals have Pediatric residents, Primary Attention Pediatricians contributes to Continued Attention in only nine hospitals. Pediatric Emergency is attended within the framework of General Emergencies. There is not an adequate accomplishment of some quality indicators in PEDs. Conclusions: Almost half of the children in the Valencian Community are attended in Health Departments where specialized pediatric assistance depends on a Regional Hospital. Nowadays, these hospitals do not have enough human resources to guarantee the assistance to all the children taken to PEDs (AU)

Iontoforesis en el abordaje del paciente con dolor crónico / Iontophoresis in the approach to patients with chronic pain

Objetivos: Con este trabajo se pretende evaluar la técnica en los diferentes diagnósticos en los que se ha empleado durante un año en nuestra unidad. Material y métodos: Se realizó un estudio retrospectivo analizando las historias clínicas de 50 pacientes que, durante el año 2005, recibieron tratamiento con iontoforesis y que cumplían los criterios de inclusión/exclusión. Se evaluó la efectividad analgésica del tratamiento mediante la escala analógica visual (EVA) al inicio del tratamiento y una vez finalizado este. Para la evaluación de la técnica se calculó la media, con un intervalo de confianza (IC) del 95% pretratamiento y postratamiento, y se compararon los resultados, valorando su consistencia con la prueba de la t de Student (mediante el programa informático SPSS v.13.1). Resultados: Valorando la consistencia de los datos, comparando la EVA pretratamiento y postratamiento con la prueba de la t de Student para datos apareados, podemos afirmar que el tratamiento con iontoforesis consigue una reducción de la EVA estadísticamente significativa en las siguientes afecciones: osteoartritis (media + desviación estándar [DE] pretratamiento 7,28 ± 1,69 y postratamiento 4,80 ± 2,64) y síndrome del túnel carpiano (media + DE pretratamiento 7,57 ± 0,83 y postratamiento 6,35 ± 0,74). Conclusiones: La iontoforesis parece ser una técnica apropiada y muy segura para el tratamiento del dolor crónico en afecciones como la osteoartritis o el síndrome del túnel carpiano (AU)

Objective: To evaluate the technique of iontophoresis in the distinct entities in which it was used during a 1-year period in our unit. Material and method: We performed a retrospective study. The medical records of 50 patients who received iontophoresis in 2005 and who met the inclusion and exclusion criteria were analyzed. The analgesic effectiveness of treatment was evaluated through a visual analog scale (VAS) at the beginning and end of treatment. To evaluate the technique, the pre-treatment and post-treatment means of VAS scores were calculated with 95% confidence intervals and the results were compared. Student’s t-test was used to evaluate the consistency of the data (the SPSS v. 13.1 statistical package was used). Results: Evaluation of the consistency of the data by comparing pre-treatment and posttreatment VAS results through Student’s t-test for paired data showed that treatment with iontophoresis produced statistically significant reductions in VAS scores for the following entities: osteoarthritis (pretreatment mean ± standard deviation 7.28 ± 1.69,post-treatment mean ± standard deviation 4.80 ± 2.64) and carpel tunnel syndrome(pretreatment mean ± standard deviation 7.57 ± 0.83, post-treatment mean ± standard deviation 6.35 + 0.74). Conclusions: Iontophoresis seems to be an appropriate and highly safe technique for the treatment of chronic pain in diseases such as osteoarthritis and carpel tunnel syndrome (AU)

Monitorización de la presión tisular cerebral de oxígeno en el paciente neurocrítico / Monitoring of oxygen pressure in brain tissue in severely injured patients under neurocritical care

El traumatismo craneoencefálico (TCE) continúasiendo la principal causa de mortalidad y morbilidad dela gente joven en Europa. La utilización de la tecnologíaen el manejo de los traumatismos craneoencefálicosseveros se ha incrementado de manera considerable ypuede llegar a presentar aspectos confusos para losfacultativos involucrados en el manejo del paciente crítico con poca experiencia en el campo de la neurología. La monitorización cerebral de los pacientes con alteraciones intracraneales generalmente se focaliza en el manejo de la presión intracraneal y la monitorización de la presión de perfusión cerebral. Recientemente nuevas técnicas se han incorporado a nuestra rutina habitual para la monitorizaciónde la oxigenación cerebral y el metabolismo.La monitorización continua de la presión parcial de oxígeno cerebral (PtiO2) se ha incrementado en las unidades de cuidados neurocríticos permitiendo valorar a la cabecera del paciente la repercusión de las lesiones titulares y de las maniobras terapéuticas. Este manuscrito trata de revisar y ahondar en todo aquello que representa la presión parcial de oxígeno cerebral, tanto en aspectos técnicos, seguridad, fiabilidad así como todo aquello que nos puede aportar respecto a otras técnicas para evaluar la oxigenación cerebral

Head injury continues to be the main cause ofmortality and morbidity among young people inEurope. The use of technology in managing severe headinjury has increased considerably and certainapplications may be confusing to physicians who havelittle experience in neurology but who are charged withproviding neurocritical care. Monitoring of braininjuredpatients usually focuses on managingintracranial pressure and recording perfusion pressure.New techniques have recently been incorporated intoroutine monitoring of oxygenation and metabolism inthe brain. Continuous monitoring of the partial oxygenpressure of brain tissue (PtO2) has become morecommon in neurocritical care units, making bedsideevaluation of the effects of injuries and therapeuticmeasures possible. This review discusses technical,safety, and reliability aspects of PtO2 monitoring and its potential advantages in comparison with othertechniques for evaluating brain tissue oxygenation

[Monitoring of oxygen pressure in brain tissue in severely injured patients under neurocritical care]. / Monitorización de la presión tisular cerebral de oxígeno en el paciente neurocrítico.

Head injury continues to be the main cause of mortality and morbidity among young people in Europe. The use of technology in managing severe head injury has increased considerably and certain applications may be confusing to physicians who have little experience in neurology but who are charged with providing neurocritical care. Monitoring of brain-injured patients usually focuses on managing intracranial pressure and recording perfusion pressure. New techniques have recently been incorporated into routine monitoring of oxygenation and metabolism in the brain. Continuous monitoring of the partial oxygen pressure of brain tissue (PtO2) has become more common in neurocritical care units, making bedside evaluation of the effects of injuries and therapeutic measures possible. This review discusses technical, safety, and reliability aspects of PtO2 monitoring and its potential advantages in comparison with other techniques for evaluating brain tissue oxygenation.

Hernia discal lumbar en la infancia. Forma de presentación y características clínicas / Herniated lumbar disc in childhood: presentation and clinical features

Introducción: La hernia discal lumbar tiene escasa incidencia antes de los 21 años, siendo excepcional antes de los 10. La forma de presentación clínica es diferente a la del adulto, por lo que resulta difícil establecer el diagnóstico. Se revisa la bibliografía para conocer mejor las peculiaridades del cuadro clínico en el niño, diferenciarlas de las del adulto y aumentar el índice de sospecha diagnóstica. Caso clínico: Niña de 9 años y 11 meses que consulta por cojera y dolor en el hueco poplíteo izquierdo, de un mes de evolución, con rigidez y escoliosis lumbar, y signo de Lasegue positivo bilateral. La resonancia magnética (RM) muestra una hernia discal en L5-S1. Discusión y conclusiones: Es una enfermedad poco frecuente, de diagnóstico difícil y tardío. Debe sospecharse ante un paciente con dolor ciático, pero también ante un dolor en el hueco poplíteo, especialmente cuando exista un signo de Lasegue o una retracción o tensión dolorosa y persistente de los isquiotibiales. La alerta aumentará cuando se añada una escoliosis y una gran restricción de la movilidad lumbar, sin olvidar sospechar la ante una alteración de la marcha poco clara en su origen

Introduction: Lumbar disc herniation is uncommon in individuals under 21 years of age, and extremely in frequent before the age of 10. The clinical presentation differs from that observed in the adult, making the diagnosis difficult. We have reviewed the literature to identity the peculiarities of this lesion in children, in order to distinguish it from the presentation in adults and, therefore, increase the index of suspicion to facilitate diagnosis. Clinical report: We report a case of herniated L5-S1 disc in a girl who was not quite ten years old. She had been complaining of a limp and left knee pain for about one month. We detected limited lumbar mobility, lumbar scoliosis and a markedly positive result in Lasegue's test. The presence of the herniated disc was revealed by magnetic resonance imaging. Discussion and conclusions: Lumbar disc herniation is anuncommon lesion, with a difficult and late diagnosis. It should be suspected not only when a patient presents with sciatica, but algo when pain is noted in the posterior region of the knee, especially when there is a positive result in Lasegue's test or an isolated and severe hamstring tightness. The diagnostic suspicion is increased by the presence of lumbar scoliosis and decreased lumbar motion, and should be kept in mind when gait disturbances of unclear etiology develop

[Inappropriate use of pediatric hospitalization]. / Utilización inapropiada de la hospitalización pediátrica.

OBJECTIVE: Our aim was to identify the inappropriate utilization of pediatric hospitalization, its reasons and associated factors. PATIENTS AND METHODS: Three hundred twenty-three medical records were randomly selected among the patients aged 6 months to 14 years and hospitalized in 1995 in a public hospital of the Community of Valencia. The validated Spanish version of the "Pediatric Appropriateness Evaluation Protocol" was retrospectively applied. The proportions of inappropriate admissions and stays and their reasons were estimated and their association with certain factors analyzed. RESULTS: Of the admissions 17.7% (95% CI: 13.5-21.8) and 15.5% of the stays (95% CI: 11.5-19.4) were considered inappropriate. The most frequent reason for inappropriate admission was that diagnostic and therapeutic needs might have been solved by ambulatory care. Inappropriate stays were in mot cases (70%) due to that doctors did not pay attention to keeping the patient in the hospital although acute care was no longer needed. Female patients, non-elective admissions, admissions by general pediatricians or traumatology and weekend stays had significantly higher proportions of inappropriate utilization. CONCLUSIONS: A considerable proportion of inappropriate admissions and stays was observed, although it is in the lower range of those observed in other studies in pediatric patients. The most frequent reasons were attributed to an excessively conservative medical practice.

[Inappropriate utilization of pediatric hospitalization. Validation of the pediatric appropriateness evaluation protocol Spanish version]. / Uso inapropiado de la hospitalización en Pediatría. Validación de la versión española del Pediatric Appropriateness Evaluation Protocol.

OBJECTIVE: To validate the Spanish version of the Pediatric Appropriateness Evaluation Protocol (PAEP). METHODS: The protocol was applied by two independent reviewers to a sample of 104 clinical records of pediatric patients (age 6 months to 14 years) admitted to a general hospital in the Valentian Community. Reliability was tested by comparing their results. Validity was tested by comparing the results of one reviewer with the judgment of three pediatricians. The following measures were calculated: overall agreement (IO), specific agreement (IE), Cohen's κ, inappropriate use ratio, and, to evaluate the predictive value, sensitivity, specificity and positive and negative predictive value. RESULTS: Interobserver reliability was high: the IO for admissions was 94.2% and 96.2% for days of care. The IE was 66.7% and 75% respectively, and κ showed values of excellent agreement: 0.77 (95% CI 0.59-0.94) for admissions and 0.83 (95% CI 0.68-0.99) for days of care. Validity was moderate: the IO for admissions was 92.35, and 90.4% for days of care. The IE was 60% and 58.3% respectively, and κ showed values of good agreement: 0.70 (95% CI 0.51-0.90) for admissions and 0.68 (95% CI 0.50-0.86) for days of care. Inappropriate use ratio was 1.13 for admissions and 0.73 for days of care. The sensitivity and specificity were high for admissions (80% and 94% respectively), while sensitivity was lower for days of care (64% and 98%). Regarding the prevalence of inappropriate use of this study, the positive predictive value ranged between 71% and 88%, and the negative predictive value ranged between 97% and 91%. CONCLUSIONS: PAEP has a high reliability, moderate validity and good predictive value face to clinical judgment, and it is a useful instrument for assessing the inappropriate utilization of pediatric hospitalization.

[Renal function in diabetic children and adolescents. Relation to the duration and level of control of the disease]. / Función renal en niños y adolescentes diabéticos. Relación con la duración y nivel de control de la enfermedad.

We have evaluated different aspects of the kidney function of 68 diabetic children and adolescents with the aim of estimating the prevalence of nephropathy and its influential factors. In addition, the kidney function is followed for an additional 18 months. The results are compared with those obtained from a group of healthy children of the same ages. No clinical nephropathy existed, with only 4 (5.97%) and 8 cases of incipient nephropathy and microalbuminuria, respectively, being demonstrated. The urinary albumin excretion rate (AER) is very clearly connected with the duration and the metabolic control of diabetes. Elevated values for AER were also observed in poorly controlled diabetics and those with prolonged evolution. Nevertheless, the last point may be secondary to the development of puberty, since with the same duration of diabetes (under 5 years), the proportion of pubertal patients with microalbuminuria is higher than that for prepubertal children.

[Psychological evaluation of diabetic students and their families]. / Valoración psicológica del escolar diabético y su familia.

A population of 29 diabetic school children has been studied with the purpose of evaluating the repercussion the disease has on the psychosocial development of the child. Eysenck's inventory of personality, Achembach's IPCDS and the drawing of the human figure have been employed as psychological test. The sociological aspects are valued through interviewing and questionnaires. The outstanding conclusions are: 1. Diabetes does not condition the development of a specific personality. 2. Psychiatric alterations and pathological behaviours are not present in the diabetic school child with a greater frequency than in the normal child. The most problematic is the pattern of behaviour found in preadolescent teenagers, individual cases stand out in relation to their antisocial and reserved behaviour. 3. The disease neither cuts down social life, nor does it condition the appearance of school-failure, but it does have a repercussion and a modifying effect on practical aspects of family life and the relations among its members.

[Limitation in articular movement in diabetic children]. / Limitación de la movilidad articular en niños diabéticos.

The presence of limited movement articular (LMA) was examined in 58 insulin-dependent diabetic children 38 boys and 20 girls in a range of 1 to 18 years. The children were ill during a mean of 4 years and 7 months +/- 3 years and nine months. The MAL was present in 36.2% of diabetic children versus 2.08% in the control group (96 healthy children). The presence of MAL has a statistically significant correlation with: age (9 years or more) (p less than 0.01); poor metabolic control (specially in severe forms) (p less than 0.001) and retinopathy (p less than 0.02). The examination of LMA is very useful for the early diagnosis of retinopathy in high risk patients because of the very frequent association of both complications of diabetes.