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.

[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.

[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.

[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.

Polymorphism of the platelet glycoprotein IIIa gene in patients with coronary stenosis.

Based on genetic variability, structural differences in the glycoprotein IIb/IIIa platelet receptor for adhesive proteins result in individual differences in the thrombogenicity of platelets. Recent studies suggest a controversial association between a genetic polymorphism of the glycoprotein IIIa gene (PlA2) and the risk of coronary artery disease. In our study, the prevalence of the PlA2 allele in a group of patients undergoing percutaneous coronary revascularization was 37%, a value significantly higher than in controls [13%, odds ratio (OR) = 3.93, 95% CI, 1.84 to 8.53] suggesting a significant association between this polymorphism and documented coronary stenosis, which is strongest among <60 years old patients (OR = 12.30, 95% CI, 2.98 to 70.93). This polymorphism represents an inherited risk factor for severe cardiovascular disease due to coronary occlusion.

Variables affecting BMI evolution at 2 and 5 years after vertical banded gastroplasty.

BACKGROUND: Vertical banded gastroplasty (VBG) has been found to result in significant reduction in body mass index (BMI) during the first postoperative year. We investigated the impact of some intrinsic and extrinsic factors on long-term BMI evolution in morbidly obese patients who underwent VBG, with the aim of establishing a long-term weight-loss prognosis. METHODS: 67 consecutive morbidly obese patients who underwent VBG were followed for 2 years; of these, 34 were followed 3 more years, for a total follow-up of 5 years. BMI was monitored and correlated with demographic (preoperative BMI, obese relatives, age and gender) and lifestyle variables (physical activity, habitual dietary transgression and occupational status). RESULTS: Global BMI fell from 47.5 at the time of the intervention to 32.1 when patients were examined 12 months after surgery. From the second year, an upward trend was observed, and at 5 years, mean BMI was above 35, considered in the high-risk range. Modifiable variables affecting lifestyle have shown significantly favorable effects on BMI evolution. Among intrinsic variables, BMI before surgery and obese parents also affect long-term evolution. CONCLUSION: Different variables should be considered in order to establish a long-term weight-loss prognosis for each patient, thus making it possible to act more specifically on modifiable variables.

Low radon doses sensitize MCF-7 human breast cancer cells to taxol.

We studied whether human breast cancer cells show increased sensitivity to the chemotherapeutic agent taxol when they have been treated with low radiation doses (1.7-3.2 x 10(-3) Gy) from the gas radon. To this end, MCF-7 cells were cultivated in a medium either with or without dissolved radon for 3 days and then exposed to taxol (50 nM). Cells exposed to low doses of radon and then to a concentration of 50 nM of taxol exhibit a lower proliferation rate and a lower viability than cells treated with the same concentration of taxol but not irradiated. These findings indicate an important interaction of radon and taxol in the inhibition of MCF-7 cell growth.

[Blood coagulation, genetics and post-angioplasty restenosis]. / Coagulación, genética y reestenosis postangioplastia.

Throughout the last few decades, different factors have been related to coronary stenosis which is clinically evidenced by coronary heart disease, the leading cause of death in developed countries. Different experimental models have contributed towards defining some of these factors, and to an understanding of the physiopathology of the atherosclerotic lesion. The genetic basis related to individual responses to the same event is currently being established. As endothelial injury reparative mechanisms are fundamental in atherosclerosis pathogeny, patients who experiment restenosis after undergoing revascularization procedures are useful human models in the study of these processes. We review from the literature the genetic factors related to thrombus formation, which may be associated with restenosis after percutaneous transluminal coronary angioplasty, in order to define the most suitable anticoagulant therapy for each patient. We refer to the recently characterized gene for the platelet receptors and its relationship with fibrinogenous, factor Xa, PAI-I, and the involvement of apolipoprotein (a) in the coagulation process.

[Feeding and assessment of nutritional status of spanish adolescents (AVENA study). Evaluation of risks and interventional proposal. I.Methodology]. / Alimentación y valoración del estado nutricional de los adolescentes españoles (estudio AVENA). Evaluación de riesgos y propuesta de intervención. I. descripción metodológica del proyecto.

BACKGROUND: Adolescence is a decisive period in human life due to the multiple physiological and psychological changes that take place. These changes will condition both nutritional requirements and eating/physical activity behavior. It has been demonstrated that these "adolescence" factors are of significant influence in health status during adult life. Due to its importance and adequate development the project has been granted by the Fondo de Investigación Sanitaria of the Institute of Health Carlos III. OBJECTIVE: To develop a methodology to evaluate the health and nutritional status of a representative population of Spanish adolescents. Specific attention is paid to three specific health problems: obesity, anorexia nervosa/bulimia, dislipidemia. METHODOLOGY: The following magnitudes will be studied: 1) dietary intake, food habits and nutrition knowledge; 2) daily physical activity and personal approach; 3) physical condition; 4) anthropometry and body composition; 5) hematobiochemical study: plasma lipid phenotypic and metabolic profile, blood cell counts; 6) genotipic profile of cardiovascular risk lipid factors; 7) immune function profile related to nutritional status; 8) psychological profile. CONCLUSION: This project includes the co-ordinate activity of five Spanish centers of five different cities (Granada, Madrid, Murcia, Santander, Zaragoza). Each center is specialized in a specific area and will be responsible for the corresponding part of the study. From the data obtained, we will elaborate a specific intervention program in order to improve nutrition and neutralize the risk for nutritional related problems in adolescence. By this, we will contribute to improve the health status of the Spanish population in the new millennium.

[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.

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)

[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.

PI SZ phenotype in chronic obstructive pulmonary disease.

BACKGROUND: A study was undertaken to clarify whether the PI SZ phenotype of the protease inhibitor system predisposes to chronic obstructive pulmonary disease (COPD). METHODS: The prevalence of PI Z and PI SZ deficient phenotypes was investigated in a population of 702 patients with COPD followed up at the Chest Unit of a tertiary hospital and in 15400 newborn infants from the same geographical area. Individuals with deficiency were detected by screening of dried blood spots on filter paper using a comparative electro-immunodiffusion technique for alpha 1-antitrypsin and transferrin. The serum phenotype was confirmed by means of isoelectrofocusing on polyacrylamide gel. RESULTS: Of the 702 blood samples from patients with COPD, six PI Z subjects (0.85%) and one PI SZ (0.14%) were detected. Of the 15400 samples from neonates, the number of PI Z subjects was eight (0.052%) and that of PI SZ was 24 (0.156%). The difference between the two groups was significant for PI Z but not for PI SZ. CONCLUSIONS: The data do not indicate an increased risk for development of COPD associated with the PI SZ phenotype but confirm the predisposition of PI Z individuals for the development of COPD.

[Association between lipid profile and Apo E genotype in Spanish children (8-15 years old)]. / Asociación entre el perfil lipídico y genotipo de la apoproteína E en niños españoles (8-15 años).

OBJECTIVE: Different studies conclude that apoprotein E (Apo E) is a genetic determinant of lipid levels and cardiovascular risk, although these studies have been carried out principally in adults, with scarce and variable results available in children. The aim of our study was to analyze the association between lipid profile and the different Apo E isoforms (E2, E3 and E4) in a group of Spanish children. PATIENTS AND METHODS: In a transversal study, apo E genotypes and the lipid profile [total cholesterol (TC), LDL-c, HDL-c, triglycerides (TG), Apo A1, apo B and Lp(a)] were determined in 191 children (110 boys and 81 girls) between 8 and 15 years of age. Apo E genotyping was performed by means of polymerase chain reaction and subsequent digestion with the restriction enzyme HhaI. RESULTS: The relative frequency for the E3, E4 and E2 alleles were 0.87, 0.09 and 0.04, respectively. Total cholesterol, LDL-c and Apo B serum levels were highest in the group of individual with the genotypes E3/E4 and lowest in the group E2/E3, while E3/E3 individuals had intermediate levels. When analyzed according to gender, we only found statistical significance in the group of girls (p < 0.004). CONCLUSIONS: The apo E genotype was significantly associated with lipid differences observed in the childhood population and this is modulated by gender.