Signos de alarma en las enfermedades metabólicas hereditarias / Warning signs in hereditary metabolic diseases

La mayoría de las enfermedades metabólicas se debe a una deficiencia enzimática en alguna de las numerosas vías metabólicas derivadas de los carbohidratos, las proteínas o los ácidos grasos, o del tráfico intracelular. Se manifiestan en cualquier momento de la vida, sobre todo en el periodo neonatal, pero también pueden hacerlo en la infancia o edad adulta. Aunque todavía no se diagnostican de forma suficiente, en los últimos años el campo de los errores innatos del metabolismo (EIM) ha evolucionado desde lo que constituía un grupo limitado de enfermedades raras (ER), poco frecuentes, desconocidas y a menudo fatales, hacia una serie de enfermedades graves pero tratables. Dadas la diversidad y la baja frecuencia de cada uno de los EIM, su seguimiento se realiza habitualmente en centros de referencia, pero en todos los demás escalones asistenciales deben poder iniciarse investigaciones y/o tratamientos antes de referir al paciente. Los responsables de la atención de pacientes afectos de un EIM deben conocer las características básicas de cada enfermedad, los alimentos permitidos y prohibidos, las posibles complicaciones y cómo actuar ante descompensaciones agudas a las que idealmente debieran anticiparse

Most metabolic diseases are due to an enzymatic deficiency in one of the numerous metabolic pathways derived from carbohydrates, proteins or fatty acids, or from intracellular trafficking. They manifest at any time in life, especially in the neonatal period, but they can also do so in childhood or adulthood. Although not yet sufficiently diagnosed, in recent years the field of inborn errors of metabolism (EIM) has evolved from what constituted a limited group of rare, unknown and often fatal diseases to a series of serious but treatable diseases. Given the diversity and low frequency of each of the EIM, their follow-up is usually done in reference centers, but in all other levels of care should be able to initiate research and / or treatments before referring the patient. Those responsible for the care of patients affected by an EIM must know the basic characteristics of each disease, the permitted and forbidden food, the possible complications and how to act in the face of acute descompensation to which they should ideally anticipate

Síndrome general y dolores óseos en un paciente tratado con tenofovir / General and bone pain syndrome in a patient treated with tenofovir

El tenofovir (TDF), es el único inhibidor de la transcriptasa inversa análogo nucleótido para el tratamiento de la infección por virus de la inmunodeficiencia humana (VIH). Ocasionalmente, puede producir insuficiencia renal aguda y síndrome de Fanconi. Presentamos el caso de un varón de 64 años con infección por VIH conocida desde hace 22 años, en tratamiento con tenofovir. En las revisiones ambulatorias refería un cuadro progresivo de astenia y dolores óseos difusos. En varias determinaciones se había observado una elevación de la fosfatasa alcalina y la paratohormona (PTH). Durante el último mes empeoró su estado, por lo que fue ingresado en el hospital. Entre los datos analíticos destacaban: glucosuria marcada, hipofosfatemia, hiperfosfaturia e hipouricemia. Todas las alteraciones se resolvieron tras suspender el TDF, lo que ilustra la importancia de que los clínicos incluyan la posibilidad de tubulopatía proximal por TDF en pacientes con dolores óseos, síndrome general o alteraciones del metabolismo mineral (AU)

Tenofovir (TDF), is the only nucleotide analogue reverse transcriptase inhibitor for treating human immunodeficiency virus (HIV). Occasionally, it may cause acute renal failure and Fanconi syndrome. We report the case of a 64-year-old male diagnosed with HIV infection 22 years previous and treated with tenofovir. In outpatient follow-up, the patient complained of progressive fatigue and diffuse aching bones. In several check-ups, increased alkaline phosphatase and parathyroid hormone (PTH) were observed. Over the past month, his condition worsened and he was admitted to hospital. Analytical data included marked glycosuria, hypophosphatemia, hyperphosphaturia and hypouricemia. All changes were resolved when TDF was discontinued.This illustrates the importance of clinical evaluations that include possible TDF-induced proximal tubulopathy in patients with general bone pain syndrome or mineral metabolism disturbances (AU)

Henoch-Schönlein purpura nephritis and IgA nephropathy: a comparative clinical study.

OBJECTIVES: Henoch-Schönlein purpura nephritis (HSPN) and IgA nephropathy (IgAN) are related syndromes. In the present study we aimed to compare the clinical characteristics and outcome of a large and unselected series of patients diagnosed as having HSPN and IgAN. METHODS: Comparative study of a wide and unselected population of HSPN (142 patient) and IgAN (61 patients) from a teaching hospital of Northern Spain. RESULTS: All of the following comparisons were expressed between HSPN vs. IgAN, respectively. HSPN patients were younger (30.6±26.4 vs. 37.1±16.5 years, p<0.001). Precipitating events, usually an upper respiratory tract infection and/or drug intake, were more frequently observed in HSPN (38% vs. 23%, p=0.03). Extra-renal manifestations were also more common in HSPN than in IgAN; skin lesions (100% vs. 1.8%; p<0.001), gastrointestinal (62% vs. 7.4%; p<0.001), and joint involvement (61.3% vs. 3.6%; p<0.001). However, nephritis was less severe in HSPN, renal insufficiency (25% in HSPN vs. 63.4% in IgAN; p<0.001), nephrotic syndrome (12.5%, vs. 43.7%; p<0.001), and nephritic syndrome (6.8% vs. 10.7%; NS). Leukocytosis was more frequent in HSPN (22.5% vs. 8.2%; p=0.015) and anaemia in IgAN (12.7% in HSPN vs. 36% in IgAN, p<0.001). The frequency of corticosteroid (79.6% vs. 69%; NS) and cytotoxic drug (19% vs. 16.5%, NS) use was similar. The frequency of relapses was similar (38.6% in HSPN vs. 36.3% in IgAN). After a median follow-up of 120.8 (IQR; 110-132) months in HSPN and 138.6 (IQR; 117-156) in IgAN, requirement for dialysis (2.9% vs. 43.5%; p<0.001), renal transplant (0% vs. 36%, p<0.001) and residual chronic renal insufficiency (4.9% vs. 63.8%; p<0.001) was more frequently observed in patients with in IgAN. CONCLUSIONS: HSPN and IgAN represent different syndromes. IgAN has more severe renal involvement while HSPN is associated with more extra-renal manifestations.

[PANDAS with a chorea-like clinical presentation and associated autoimmune pathology: a case report]. / PANDAS con clínica tipo corea-like y patología autoinmune asociada: presentación de un caso.

INTRODUCTION: The disorder known as 'PANDAS syndrome' (paediatric autoimmune neuro-psychiatric disorders associated with Streptococci) consists in an abrupt onset of obsessive-compulsive symptoms and/or movement disorders, a pre-puberal onset, and an episodic course. Antibiotic therapy has been postulated as a first choice therapeutic option. A summarised review of main literature on this topic is presented. CASE REPORT: A girl, 10 years and 6 months old, with a dramatic clinical onset of a chorea-like and obsessive-compulsive symptomathology with a remarkable improvement after 10 days penicillin p.o. intake. She has a positive family history of autoimmune disorders, with elevated anti-phospholipidic antibodies. CONCLUSION: The implications of the case follow-up with many relapses, the development of a diabetes after corticoid therapy and the elevated anti glutamic dexcarboxilasa (anti-GAD) are discussed regarding a common underlying autoimmune mechanism.

PANDAS con clínica tipo corea-like y patología autoinmune asociada: presentación de un caso / Pandas with a Chorea- Like clincial presentation and associated autoimmune pathology: a case report

Resumen. Introducción. El trastorno conocido como enfermedad neuropsiquiátrica de etiología autoinmune asociada a estreptococo (PANDAS) consiste en una sintomatología de inicio brusco, con presentación clínica de tipo obsesivo-compulsivo y/o trastornos del movimiento tipo tics, de inicio prepuberal, que suele evolucionar de forma episódica y para el que se postula el tratamiento antibiótico como primera elección. Se revisan y resumen los hallazgos más relevantes de la bibliografía publicada hasta el momento sobre esta entidad clínica. Caso clínico. Niña de 10 años y 6 meses de edad con criterios diagnósticos de PANDAS, con presentación clínica de inicio brusco, de características coreicas y sintomatología ansiosa de tipo obsesivo-compulsivo. La mejoría clínica es muy marcada tras la administración de penicilina oral durante 10 días. Hay antecedentes familiares de enfermedad autoinmune con anticuerpos antifosfolípidos a títulos muy altos. Conclusión. El cuadro evoluciona posteriormente con recaídas, aparece una diabetes probablemente secundaria a la administración de corticoides y se detectan títulos elevados de anti-glutámico descarboxilasa (anti-GAD), fenómenos que son revisados según la hipótesis de un mecanismo de tipo autoinmune en función de los diferentes hallazgos clínicos y de laboratorio de esta paciente (AU)

Summary. Introduction. The disorder known as ‘PANDAS syndrome’ (paediatric autoimmune neuro-psychiatric disorders associated with Streptococci) consists in an abrupt onset of obsessive-compulsive symptoms and/or movement disorders, a pre-puberal onset, and an episodic course. Antibiotic therapy has been postulated as a first choice therapeutic option. A summarised review of main literature on this topic is presented. Case report. A girl, 10 years and 6 months old, with a dramatic clinical onset of a chorea-like and obsessive-compulsive symptomathology with a remarkable improvement after 10 days penicillin p.o. intake. She has a positive family history of autoimmune disorders, with elevated anti-phospholipidic antibodies. Conclusion. The implications of the case follow-up with many relapses, the development of a diabetes after corticoid therapy and the elevated anti glutamic dexcarboxilasa (anti-GAD) are discussed regarding a common underlying autoimmune mechanism (AU)

[Rare diseases in paediatrics]. / Enfermedades raras en pediatría.

Few areas of paediatric care are as susceptible to the revision of lines of action, and require such professional training, as the care of the child with a rare disease (RD) and his/her family, especially if there are malformations. The lifelong impact, which many RDs entail, make continuous monitoring of the child compulsory, centred both on the evolutionary aspects of the RD and on the family's adaptation to the problem. Besides the sad reality they confront, the parents must frequently make immediate decisions on medical or surgical treatment for their child, or face a lethal or disabling condition that "robs" them of their expectations. Only suitable care for each of the numerous problems faced by these children and their families helps to minimise the potential handicap associated with RDs. In spite of the unquestionable complexity involved in exploring this field, the paediatrician must acquire knowledge of these diseases in order to ground his involvement in the diagnosis and monitoring of these patients. Abstention by the paediatrician in the face of this responsibility would have a negative effect on the care of these patients, which he must share with the corresponding specialists.

[Genetically based diseases]. / Enfermedades de base genética.

Genetics is one of the greatest scientific advances of the XX century, which begins with the rediscovery of Mendel's laws and culminates in the elaboration of the first "draft" of the complete sequence of the human genome. Genetics employs different research strategies, such as the study of twins and adoption, investigating the influence of genetic and environmental factors, and strategies for identifying specific genes (molecular genetics). Besides the significant degree of disability they generate, the social impact of hereditary diseases is enormous, due to their potentially recurrent character in the same family and the high socio-health cost deriving from the enormous care burden they require. The diagnosis of hereditary diseases presents very significant differentiating characteristics since the result of a genetic diagnosis has effects not only on the patient but also on related individuals. Thus the unit of study in genetic diagnosis is the family and the whole process of diagnosis involves family research. It is also useful to bear in mind that the protocols of diagnosis are developed in parallel with the basic research and in general are hardly standardised. The results obtained in genetic studies and the type of information provided to the patient and his family must be qualified within the process of "genetic counselling".

[On-line resources in dealing with rare diseases]. / Recursos on-line en el manejo de enfermedades raras.

The increase in scientific knowledge and the need for its transmission to health professionals and patients has resulted in the creation of websites as a useful tool. In low prevalence diseases, such as rare diseases (RDs), sites are being created by scientific societies, institutions and patients. This section reviews the most important websites dealing with RDs both nationally and internationally.

[Needs in rare diseases during paediatric age]. / Necesidades en las enfermedades raras durante la edad pediátrica.

All rare diseases present a common set of challenges to the sufferers and their families: diagnosis, dealing with symptoms, health information, obtaining helpful medical care, availability of medications, disability and emotional impact. Children with rare disorders are an important population from health care services, and social services perspectives, and families are providing long-term care for these chronically ill children. The impact of rare disorders in children is far-reaching, extending beyond the child to all those with whom he/she has contact. Multiple facets of life are affected including social an family relationships, economical well-being and activities of daily living. The assessment of needs for rare disorders treatment is a critical step in providing high quality care and achieving patients' and families' satisfaction. Findings from different studies show that people with rare diseases have medical and social needs. Social needs are becoming more relevant in developed countries where health care services, even with limitations, have greater availability than social services. Furthermore, it seems that health care and social services for persons with rare diseases need to be improved to address the patients' needs and to provide better support to families. Validated tools with good psychometric properties are still needed to assess quality of care on the basis of patients and family needs.

Screening metabólico neonatal expandido / Expanded neonatal metabolic screening

No disponible

Enfermedades raras en pediatría / Rare diseases in paediatrics

Pocas áreas de la asistencia pediátrica son tan susceptiblesde revisión en cuanto a las pautas de actuación,y de tan necesaria formación por parte del profesional,como la asistencia a un niño y a su familia conuna enfermedad rara (ER), muy especialmente si setrata de un niño malformado. El impacto de por vida,que conllevan muchas ER, obliga a un seguimiento continuadodel niño, centrado tanto en los aspectos evolutivosdel mismo como en la adaptación de la familia alproblema. Además de la triste realidad a la que seenfrentan, los padres frecuentemente deben tomardecisiones inmediatas sobre el tratamiento médico oquirúrgico de su hijo, o enfrentarse a una condiciónletal o incapacitante que les «roba» sus expectativas.Sólo una adecuada atención a cada uno de los múltiplesproblemas a los que se enfrentan estos niños y susfamilias ayuda a minimizar el potencial handicap asociadoa las ER. A pesar de la indudable complejidad queconlleva la profundización en este campo, el pediatradebe introducirse en el conocimiento de estas enfermedadescon la finalidad de fundamentar su implicaciónen el diagnóstico y seguimiento de los pacientes.Su abstención ante esta responsabilidad repercutiríanegativamente en la atención a estos enfermos, quedeberá compartir con los especialistas correspondientes

Few areas of paediatric care are as susceptible tothe revision of lines of action, and require suchprofessional training, as the care of the child with a raredisease (RD) and his/her family, especially if there aremalformations. The lifelong impact, which many RDsentail, make continuous monitoring of the childcompulsory, centred both on the evolutionary aspectsof the RD and on the family’s adaptation to theproblem. Besides the sad reality they confront, theparents must frequently make immediate decisions onmedical or surgical treatment for their child, or face alethal or disabling condition that “robs” them of theirexpectations. Only suitable care for each of thenumerous problems faced by these children and theirfamilies helps to minimise the potential handicapassociated with RDs. In spite of the unquestionablecomplexity involved in exploring this field, thepaediatrician must acquire knowledge of thesediseases in order to ground his involvement in thediagnosis and monitoring of these patients. Abstentionby the paediatrician in the face of this responsibilitywould have a negative effect on the care of thesepatients, which he must share with the correspondingspecialists

Enfermedades de base genética / Genetically based diseases

La genética constituye uno de los mayores avancescientíficos del siglo XX, que comienza con el redescubrimientode las leyes de Mendel y termina con la elaboracióndel primer “borrador” de la secuencia completadel genoma humano. La genética utiliza diferentesestrategias de investigación, como los estudios degemelos y de adopción, que investigan la influencia delos factores genéticos y ambientales, y las estrategiaspara identificar genes específicos (genética molecular).Además del importante grado de discapacidad quegeneran, el impacto social de las enfermedades hereditariases enorme, por su carácter potencialmente recurrenteen una misma familia y por el elevado costesocio-sanitario derivado de la enorme carga de cuidadosque requiere. El diagnóstico de las enfermedadeshereditarias presenta características diferenciadorasmuy significativas ya que el resultado de un diagnósticogenético tiene no sólo efectos sobre el paciente sinotambién sobre todos los individuos emparentados. Portanto, la unidad de estudio en el diagnóstico genéticoes la familia y todo proceso de diagnóstico implica unainvestigación familiar. También conviene tener en cuentaque los protocolos de diagnóstico se desarrollan deforma paralela a la investigación básica y generalmenteestán poco estandarizados. Los resultados obtenidosen los estudios genéticos y el tipo de información quese facilita al paciente y a su familia deben ser matizadosdentro del proceso del “consejo genético”

Genetics is one of the greatest scientific advancesof the XX century, which begins with the rediscovery ofMendel’s laws and culminates in the elaboration of thefirst “draft” of the complete sequence of the humangenome. Genetics employs different researchstrategies, such as the study of twins and adoption,investigating the influence of genetic andenvironmental factors, and strategies for identifyingspecific genes (molecular genetics). Besides thesignificant degree of disability they generate, the socialimpact of hereditary diseases is enormous, due to theirpotentially recurrent character in the same family andthe high socio-health cost deriving from the enormouscare burden they require. The diagnosis of hereditarydiseases presents very significant differentiatingcharacteristics since the result of a genetic diagnosishas effects not only on the patient but also on relatedindividuals. Thus the unit of study in genetic diagnosisis the family and the whole process of diagnosisinvolves family research. It is also useful to bear inmind that the protocols of diagnosis are developed inparallel with the basic research and in general arehardly standardised. The results obtained in geneticstudies and the type of information provided to thepatient and his family must be qualified within theprocess of “genetic counselling”

Recursos on-line en el manejo de enfermedades raras / On-line resources in dealing with rare diseases

El incremento del conocimiento científico y lanecesidad de su transmisión a los responsables de lasalud y a los pacientes, ha propiciado que una herramientaútil sea la creación de portales web. En enfermedadespoco prevalentes, como las enfermedadesraras (ER), se asiste a la creación de portales que surgendesde el área de las sociedades científicas, desdelos pacientes y las instituciones. En este capítulo seintenta reseñar los portales más significativos en ERtanto a nivel nacional como internacional

The increase in scientific knowledge and the needfor its transmission to health professionals andpatients has resulted in the creation of websites as auseful tool. In low prevalence diseases, such as rarediseases (RDs), sites are being created by scientificsocieties, institutions and patients. This sectionreviews the most important websites dealing with RDsboth nationally and internationally

Necesidades en las enfermedades raras durante la edad pediátrica / Needs in rare diseases during paediatric age

Las enfermedades raras plantean una serie de retos a los afectados y sus familias: el diagnóstico, afrontar los síntomas, la información sobre la enfermedad, obtención de atención sanitaria adecuada, disponibilidad de fármacos, discapacidad e impacto emocional. Los niños con enfermedades raras constituyen un grupo poblacional muy importante desde el punto de vista de los servicios sanitarios y sociales, y las familias deben proporcionar cuidados durante largo tiempo a estos niños enfermos. La repercusión de las enfermedades raras en los niños es de gran alcance, extendiéndose más allá de ellos mismos, a todas las personas de su entorno. Son múltiples las facetas de la vida afectadas, incluyendo las relaciones familiares y sociales, el bienestar económico o las actividades cotidianas. La evaluación de las necesidades en las enfermedades raras es una fase crítica para proporcionar una atención sanitaria de alta calidad y conseguir la satisfacción del enfermo y su familia. Los hallazgos de diferentes estudios han puesto de manifiesto que las personas con enfermedades raras tienen necesidades médicas y sociales. Las necesidades sociales están adquiriendo una gran relevancia en los países desarrollados, en los que los servicios sanitarios, aún con limitaciones, tienen mayor disponibilidad que los servicios sociales. Por consiguiente, parece necesario que los servicios sanitarios y sociales para las personas con enfermedades raras deben mejorarse para abordar las necesidades de los pacientes y proporcionar mejor apoyo a las familias. En este sentido, sigue siendo necesario disponer de instrumentos validados con buenas propiedades psicométricas para valorar la calidad de la asistencia en función delas necesidades de los pacientes y sus familias (AU)

All rare diseases present a common set of challenges to the sufferers and their families: diagnosis,dealing with symptoms, health information, obtaining helpful medical care, availability of medications,disability and emotional impact. Children with rare disorders are an important population from health care services, and social services perspectives, and families are providing long-term care for these chronically ill children. The impact of rare disorders in children is far reaching, extending beyond the child to all those with whom he/she has contact. Multiple facets of life are affected including social an family relationships,economical well-being and activities of daily living. The assessment of needs for rare disorders treatment is a critical step in providing high quality care and achieving patients’ and families’ satisfaction. Findings from different studies show that people with rare diseases have medical and social needs. Social needs are becoming more relevant in developed countries where health care services, even with limitations, have greater availability than social services. Furthermore, it seems that health care and social services for persons with rare diseases need to be improved to address the patients’ needs and to provide better support to families. Validated tools with good psychometric properties are still needed to assess quality of care on the basis of patients and family needs (AU)

[Nutritional aversions and preferences of 14-18 years old adolescents, schooled at the city of Santander]. / Aversiones y preferencias alimentarias de los adolescentes de 14 a 18 años de edad, escolarizados en la ciudad de Santander.

OBJECTIVE: To describe the nutritional aversions and preferences of 14-18 years old adolescents schooled at Santander and analyze the changes taking place within the last decade. SUBJECTS: A cross-sectional study was carried out analyzing a sample of 1134 adolescents: 549 males (48.4%, 95% CI: 45.5%-5.3%) and 585 females (5.6%, 95% CI: 48.7%-54.5%), ages comprised between 14 and 18 years, and schooled at centers of secondary educational level from Santander, by means of a questionnaire. RESULTS: vegetables (54.7%) and legumes (18.7%) represent the main nutritional aversions of adolescents. On the other hand, grains (53.3%) and meats (14.6%) are the preferred foods. Lentils, lettuce, strawberry, water, and pasta generally were the best-valued foods within the groups of foods and drinks to which they belong. CONCLUSION: nutritional aversions and preferences of adolescents from Santander generally are very similar to those observed in other studies and we have not observed important changes within the last decade. The data obtained may be useful to observe future trends on nutritional preferences that, together with other parameters, may help characterized the nutritional behavior of our adolescents.

Aversiones y preferencias alimentarias de los adolescentes de 14 a 18 años de edad, escolarizados en la ciudad de Santander / Nutritional aversions and preferences of 14-18 years old adolescents, schooled at the city of Santander

Objetivo: Describir las aversiones y preferencias alimentarias de los adolescentes, de 14 a 18 años de edad, escolarizados en Santander y analizar los cambios ocurridos en las mismas en la última década. Sujetos: Se realizó un estudio transversal, analizando una muestra de 1.134: 549 varones (48,4%, IC-95%:45,5% a 51,3%) y 585 mujeres (51,6%, IC-95%: 48,7%a 54,5%), de edades comprendidas entre los 14 y los 18años, escolarizados en siete centros de enseñanza secundaria de Santander, mediante un cuestionario. Resultados: Las verduras y hortalizas (54,7%) y las legumbres (18,7%) constituyen las principales aversiones alimentarias de los adolescentes. Por otro lado, los cereales (53,3%) y la carne (14,6%) son los grupos de alimentos preferidos. Las lentejas, la lechuga, la fresa, el agua y la pasta en general fueron los alimentos más valorados dentro de sus respectivos grupos de alimentos y bebidas. Conclusión: Las aversiones y preferencias alimentarias de los adolescentes santanderinos son, en líneas generales, bastante similares a las observadas en otros estudios, y no han sufrido cambios sustanciales a lo largo de la última década. Los datos obtenidos pueden ser útiles para observar las futuras tendencias sobre preferencias alimentarias, que conjuntamente con otros parámetros permitan caracterizar el comportamiento alimentario de nuestros adolescentes

Objective: To describe the nutritional aversions and preferences of 14-18 years old adolescents schooled at Santander and analyze the changes taking place within the last decade. Subjects: A cross-sectional study was carried out analyzing a sample of 1134 adolescents: 549 males(48.4%, 95% CI: 45.5%-5.3%) and 585 females (5.6%,95% CI: 48.7%-54.5%), ages comprised between 14 and18 years, and schooled at centers of secondary educational level from Santander, by means of a questionnaire. Results: vegetables (54.7%) and legumes (18.7%) represent the main nutritional aversions of adolescents. On the other hand, grains (53.3%) and meats (14.6%) are the preferred foods. Lentils, lettuce, strawberry, water, and pasta generally were the best-valued foods within the groups of foods and drinks to which they belong. Conclusion: nutritional aversions and preferences of adolescents from Santander generally are very similar to those observed in other studies and we have not observed important changes within the last decade. The data obtained may be useful to observe future trends on nutritional preferences that, together with other parameters, may help characterized the nutritional behavior of our adolescents

[Breakfast and snack of schooled adolescents in Santander]. / Desayuno y almuerzo de los adolescentes escolarizados de Santander.

OBJECTIVE: To study the breakfast model and food intake at mid-morning (snack) in schooled adolescents at Santander city. SUBJECTS: A cross-sectional study was performed analyzing a sample of 403 adolescents: 232 girls (58%; 95% CI: 52%-62%) and 171 boys (42%; 95% CI: 38%-48%), with ages between 12 and 19 years, schooled at 12 second degree education centers of Santander, by means of a closed questionnaire and a recall 24 hours later. RESULTS: Five percent (95% CI: 3.1%-7.6%) of the adolescents referred neglecting breakfast. The most consumed foods were milk (47%; 95% CI: 42%-52%), chocolate milk (40%; 95% CI: 36%-45%), and cookies (45%; 95%CI: 36%-45%). On the other hand, 63% of adolescents consume whole milk (95% CI: 58%-70%), 21% semi-skimmed milk (95%CI: 17%-26%), and 11% skimmed milk (95% CI: 8%-15%). A decreasing lineal tendency in whole milk consumption is observed and a parallel increase in consumption of milks with a lower fat content as the academic year of adolescents advances (Armitage's chi-square test for lineal tendency = 2.32; p = 0.02). Boys consume an average of 3.0 (SD = 1.35) different foods during breakfast and girls 2.4 (SD = 1.20). Forty-three percent (95% CI: 38%-48%) of adolescents have a snack, which means that 2% of adolescents do not have breakfast or a snack (95% CI: 1%-4%). Breakfast represents 18% (95% CI: 16%-19%) of the total daily energy intake, whereas for snack, this percentage is 16% (95% CI: 14%-17%). CONCLUSION: it is necessary to promote consumption of a healthy breakfast and snack that provide an appropriate quantitative and qualitative intake.

Desayuno y almuerzo de los adolescentes escolarizados de Santander / Breakfast and snack of schooled adolescents in Santander

Objetivo: Estudiar el modelo de desayuno e ingesta alimentaria de media mañana (almuerzo) de los adolescentes escolarizados de la ciudad de Santander. Sujetos: Se realizó un estudio transversal, analizando una muestra de 403 adolescentes: 232 mujeres (58%; IC-95%:52%-62%) y 171 varones (42%; IC-95%: 38%-48%), de edades comprendidas entre los 12 y los 19 años, escolarizados en 12 centros de enseñanza secundaria de Santander, mediante un cuestionario cerrado y un recuerdo de 24 horas. Resultados: El 5% (IC-95%: 3,1%-7,6%) de los jóvenes manifestó no desayunar. Los alimentos más consumidos son la leche (47%; IC-95%: 42%-52%), la leche chocolateada (40%: IC-95%: 36%-45%) y las galletas (45%; IC-95%: 36%-45%). Por otro lado, el 63% (IC-95%:58%-70%) de los jóvenes consume leche entera, el 21% (IC-95%:17%-26%) leche semidesnatada y el 11% (IC-95%:8%-15%) leche desnatada. Se aprecia una tendencia lineal decreciente en el consumo de leche entera, y un aumento paralelo en el consumo de leches con menos fracción grasa conforme aumenta el curso académico de los adolescentes (test r2 de tendencia lineal de Armitage = 2,32; p = 0,02). Los varones consumen una media de 3,0 (DE=1,35) alimentos diferentes en el desayuno y las mujeres 2,4 (DE=1,20). El 43% (IC-95%:38%-48%) de los adolescentes almuerza, lo que implica que un 2% (IC-95%: 1%-4%) de los jóvenes ni desayuna ni almuerza. El desayuno representa el 18% (IC-95%: 16%-19%) del total de la ingesta energética diaria, mientras que para el almuerzo este porcentaje es del 16% (IC-95%:14%-17%). Conclusión: Es necesario fomentar el consumo de un desayuno y almuerzo saludables que proporcionen una ingesta cuantitativa y cualitativa adecuadas (AU)

Objective: To study the breakfast model and food intake at mid-morning (snack) in schooled adolescents at Santander city. Subjects: A cross-sectional study was performed analyzing a sample of 403 adolescents: 232 girls (58%; 95%CI: 52%-62%) and 171 boys (42%; 95%CI: 38%-48%), with ages between 12 and 19 years, schooled at 12 second degree education centers of Santander, by means of a closed questionnaire and a recall 24 hours later. Results: Five percent (95%CI: 3.1%-7.6%) of the adolescents referred neglecting breakfast. The most consumed foods were milk (47%; 95%CI: 42%-52%), chocolate milk (40%; 95%CI: 36%-45%), and cookies (45%; 95%CI: 36%-45%). On the other hand, 63% of adolescents consume whole milk (95%CI: 58%-70%), 21% semi-skimmed milk (95%CI: 17%-26%), and 11% skimmed milk (95%CI: 8%-15%). A decreasing lineal tendency in whole milk consumption is observed and a parallel increase in consumption of milks with a lower fat content as the academic year of adolescents advances (Armitage's r2 test for lineal tendency = 2.32; p = 0.02). Boys consume an average of 3.0 (SD = 1.35) different foods during breakfast and girls 2.4 (SD = 1.20). Forty-three percent (95%CI: 38%-48%) of adolescents have a snack, which means that 2% of adolescents do not have breakfast or a snack (95%CI: 1%-4%). Breakfast represents 18% (95%CI: 16%-19%) of the total daily energy intake, whereas for snack, this percentage is 16% (95%CI: 14%-17%). Conclusion: it is necessary to promote consumption of a healthy breakfast and snack that provide an appropriate quantitative and qualitative intake (AU

Enfermedades raras y coordinación asistencial / Rare diseases and health care coordination

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[Childhood cancer in the Autonomous Community of Cantabria in Spain (1995-2000)]. / Cáncer infantil en la comunidad de Cantabria (1995-2000).

BACKGROUND: Since 1980, the epidemiology of childhood cancer in Spain has been registered through the National Registry of Childhood Cancer. However, this registry does not include patients from Autonomous Community of Cantabria because there is no reporting clinical center. The absence of data on childhood cancer in this region justifies this study. OBJECTIVES: To analyze the clinical presentation, diagnostic delay and incidence of childhood cancer in Cantabria. METHODS: We performed a retrospective analysis of 89 children (aged 0-15 years) diagnosed with cancer in Cantabria from 1995-2000. RESULTS: The annual incidence of childhood cancer in the region was 198.1 cases per million inhabitants with a predominance of males (53.9 %) and children aged less than 5 years (46.1 %). The most frequent cancers were leukemia (32.6 %) and brain tumors (23.6 %). The most frequent signs and symptoms were fever (29.2 %) and decreased appetite or fatigue (19.1 %). The mean delay in diagnosis for all tumors was 5.99 weeks and delays were longest for brain tumors. There was a direct statistical relationship between non-specific clinical presentation and diagnostic delay. A total of 20.2 % of all patients received treatment outside Cantabria. CONCLUSIONS: The incidence of all childhood cancers and especially that of neuroblastoma was higher in Cantabria than in other areas of Spain. In general, the major difficulties in the diagnosis of childhood cancer are its low incidence and non-specific presenting symptoms. Specialized pediatric oncology units near to patients' homes should be created to avoid problems due to treatment outside the area of residence.