Prader-Willi syndrome in a large sample from Spain: general features, obesity and regular use of psychotropic medication.

BACKGROUND: Prader-Willi syndrome (PWS), a genetically determined disorder, the most frequent cause of early onset obesity, is associated with physical and cognitive dysfunctions and behavioural disturbances; these disturbances are frequently treated with psychotropic medication. The aim of this cross-sectional study was to describe the characteristics of the first large national sample of persons with PWS in Spain and analyse the relationships of those characteristics with key demographic and clinical factors, particularly with obesity and the regular use of psychotropic medication. METHODS: Participants were recruited among all members of the Spanish Prader-Willi Association who agreed to take part in the study and fulfilled its inclusion criteria. Family and patient demographic features, family size and birth order, intelligence quotient (IQ), anthropometric measures, lifestyle habits, behavioural disturbances (with the Aberrant Behavior Checklist) and clinical data, as well as use of psychotropic drugs and their side effects (with the UKU scale), were collected in genetically confirmed cases of PWS. Bivariate and logistic regression analyses were used for determining the associations of demographic and clinical factors with both obesity and the regular use of psychotropic medication. RESULTS: The cohort included 177 participants (aged 6-48 years), that is, 90 (50.8%) males and 87 (49.2%) females. Behavioural disturbances were present in a range of 75% to 93% of participants; psychotropic medication was prescribed to 81 (45.8%) of them. Number of siblings showed a direct correlation with IQ, especially among males, and inappropriate speech was more intense in only-child females. Obesity was, in parallel, strongly associated with ascending age and with not being currently under growth hormone (GH) treatment. Participants taking any psychotropic medication were characterised by more frequent age ≥30 years, high level of hyperactivity and a psychiatric diagnosis. CONCLUSIONS: Characterisation of persons with PWS in Spain confirms their physical and behavioural phenotype and supports the long-term application of GH therapy and the rational use of psychotropic medication.

Patient-centered outcomes after surgical treatment of peri-implantitis: a prospective clinical study.

BACKGROUND: Peri-implantitis is an inflammatory process affecting soft and hard tissues surrounding dental implants, causing progressive marginal bone loss. Peri-implant surgery is the treatment of choice. However, evidence about its impact on patients' quality of life (QoL) is limited. This study aimed to assess pain and QoL in the first seven post-operative days and measure patient satisfaction at the end of this period. MATERIAL AND METHODS: A prospective cohort study was conducted in patients with peri-implantitis. Patients reported pain on a visual analogue scale (VAS) ranging from 0 to 100mm every day during the first week after surgery. They then completed the OHIP-14sp questionnaire. A descriptive and inferential data analysis was used to assess the effect of surgical approach (resective, regenerative or combined), gender and working status on pain, satisfaction and QoL. RESULTS: Forty-one patients (93,2%) completed the daily pain VAS; scores ranged from 0 to 95 mm. Gender, occupation, or type of surgery had no significant effect upon its evolution. The mean total OHIP-14sp score was 16.7 (range = 5 to 33), indicating low to moderate deterioration in perceived oral health. Postoperative OHRQoL was significantly higher in working patients (mean difference (MD): 3.94; P = 0.042), and with the regenerative (MD: 6.34; P = 0.044) or the combined approach (MD: 5.41; P = 0.027). CONCLUSIONS: Considering the limitations of this study, postoperative pain was mild to moderate and decreased after the third day. Surgical treatment of peri-implantitis has an impact on QoL, especially when augmentation procedures are involved. This impact is higher in working patients.

Biografía de una pediatra pionera en España: Nieves González Barrio (1884-1961) / Biography of a pioneering pediatrician in Spain: Nieves González Barrio (1884-1961)

Introducción: podemos encontrar mujeres pioneras en Pediatría y Puericultura en España, a principios del siglo XX, para rescatarlas del olvido y subrayar su papel dentro de la conquista del espacio público para la mujer. Nieves González Barrio (1884-1961) fue una de ellas. Objetivo: describir su vida profesional como pionera médica y pediatra-puericultora (biografía histórica), enmarcada en un contexto humanístico. Material y métodos: estudio histórico, hemerográfico (Biblioteca Nacional de España [BNE], BNF-Gallica [biblioteca de Francia], diario ABC, Memorias de la Junta de Ampliación de Estudios, la propia González Barrio en Blanco y Negro en 1935, y otros). Seleccionados: 22 artículos científicos, más 26 de prensa histórica y libros. Resultados: González Barrio presentó su tesis doctoral en 1915, sobre Kala-Azar. Fue médica pionera en los viajes formativos a EE. UU. Su actividad: la Medicina de Laboratorio y la Pediatría. Fue profesora (1926-1931) en la Escuela Nacional de Puericultura, encargada del laboratorio y de organizar el servicio de enfermeras visitadoras y niñeras. Fue una promotora de la especialización en enfermería. Perteneció a diversas instituciones médicas y educadoras, y de promoción de la mujer (el Lyceum Club femenino y otras). Comentarios: fue de las primeras médicas pediatras en España, doctoradas, y pionera en formación internacional, en investigación y docencia. Su vida profesional se vio truncada por los vaivenes de la política española y de la Sanidad, así como necesidades familiares. Su figura, su determinación personal, su legado, su gran capacidad polifacética y su labor como mujer científica y pediatra merecen ser tenidas en consideración y estudiadas en profundidad (AU)

Introduction. At the beginning of the 20th century, we can find and rescue from oblivion pioneer women in Pediatrics and Puericulture in Spain, to underline their role within the conquest of public space for women. María Nieves González Barrio (1884-1961) was one of them. Objective: to describe her professional life as a pioneering physician and pediatrician-pediatrician-puericulturist (historical biography), framed in a humanistic context.Material and methods. Historical and hemerographic study (BNE-National Library of Spain-, BNF-Gallica (library of France), ABC newspaper, Memoirs of the Junta de Ampliación de Estudios, González Barrio herself in Black and White in 1935, and others). Selected: 22 scientific articles and books, plus 26 historical press articles.Results. González Barrio presented her doctoral thesis in 1915, on Kala-Azar. She was a pioneer physician in formative trips to the USA. Her activity: Laboratory Medicine and Pediatrics. She was a professor at the National School of Puericulture, from 1926 to 1931, in charge of the laboratory and of organizing the service of visiting nurses and nannies. She was a promoter of nursing specialization. She belonged to several medical and educational institutions, and for the promotion of women, such as the Women's Lyceum Club and others.Comments. She was one of the first pediatric doctors in Spain, with a doctorate, and a pioneer in international training, research and teaching. Her professional life was truncated by the ups and downs of Spanish politics and healthcare, as well as family needs. Her figure, personal determination, legacy, her great multifaceted capacity and her work as a woman scientist and pediatrician deserve to be taken into consideration and studied in greater depth. (AU)

Usefulness of basic renal function tests in the management of hydronephrosis. / Utilidad de las pruebas básicas de función renal en el manejo de la hidronefrosis.

OBJECTIVE: Nowadays, the algorithms for the study of hydronephrosis in children include voiding cystourethrogram (VCUG) and diuretic renogram (DR) in all patients. Both are invasive, distressing, and associated with radiation risk. However, basic renal function tests (bRFTs) are not included. This study was designed to determine whether bRFTs may help avoid VCUG and/or DR in some children. METHODS: Retrospective review of hydronephrosis (≥20 mm renal pelvis) patient records over one year (n = 38) (pyeloureteral stenosis (PUS) n = 12; high-grade vesicoureteral reflux (VUR) n = 8; non-obstructive hydronephrosis (NOH) n = 18. Data from the three protocolized bRFTs (maximum urine osmolality after DDAVP (UOsm), albumin/creatinine ratio (Alb/Cr), and NAG/creatinine ratio (NAG/Cr), together with VCUG and DR, were analyzed. RESULTS: 38 hydronephrosis patients (pyeloureteral stenosis (PUS) n = 12; high grade vesicoureteral reflux (VUR) n = 8; non-obstructive hydronephrosis (NOH) n = 18. UOsm was decreased in 100% of VUR patients, 75% of PUS patients, and 16.7% of NOH patients. Alb/Cr ratio was increased in 62.5% of VUR patients, 8.3% of PUS patients, and 11.1% of NOH patients. NAG/Cr ratio was increased in 42.8% of VUR patients, 25% of PUS patients, and 6.7% of NOH patients. UOsm was decreased in most patients who required surgery (100% of VUR patients and 74% of PUS patients), but only in 11.1% of patients who did not (NOH group). CONCLUSIONS: These results suggest that bRFTs may be useful in delaying or avoiding VCUG in some hydronephrosis cases. UOsm is the most sensitive test. No child with (high grade) VUR had a normal UOsm. VCUG could have been avoided in 43% of our patients -with a normal UOsm- without missing any high grade VUR.

OBJETIVO: Actualmente, los algoritmos para estudiar hidronefrosis en niños, incluyen realizar cistografía miccional (CUMS) y renograma diurético (RD) a todos. Ambos son invasivos, molestos, y con riesgo de radiación. Contrariamente, las pruebas básicas de función renal (PFRb), no están incluidas. Este estudio se realizó para saber si las PFRb, pueden ayudarnos a evitar alguna CUMS y/o RD. METODOS: Análisis retrospectivo de todas las historias de niños con hidronefrosis (pelvis renal ≥20 mm) atendidos durante un año (n=38), [estenosis pieloureteral (EPU) n = 12; reflujo vesicoureteral (RVU) de alto grado n = 8; hidronefrosis no obstructiva (HNO) n = 18]. Analizamos las tres PFRb protocolizadas [osmolalidad urinaria máxima tras DDAVP (UOsm), albúmina/creatinina (Alb/Cr) y NAG/creatinina (NAG/Cr)], junto con CUMS y RD. RESULTADOS: UOsm estaba disminuida en 100% RVU, 75% EPU, 16,7% HNO. Alb/Cr estaba aumentado en 62,5% RVU, 8,3% EPU, 11,1% HNO. NAG/Cr estaba aumentado en 42,8% RVU, 25% EPU, 6,7% HNO. En relación a la necesidad de cirugía, UOsm estaba disminuida en la mayoría de pacientes intervenidos (100% con RVU y 74% con EPU), mientras solo en el 11% de pacientes sin cirugía (HNO). CONCLUSION: Estos resultados sugieren que las PFRb pueden ser útiles para retrasar o evitar CUMS en algunos niños con hidronefrosis. La UOsm es la PFRb más sensible. Ningún niño con RVU (de alto grado) mostró una UOsm normal. Se podrían haber evitado CUMS en el 43% de nuestros pacientes, con UOsm normal, sin haber perdido ningún diagnóstico de VUR (de alto grado).

Lipid profile of immunocastrated, castrated male and female pigs / Perfil lipídico de suínos machos castrados e imunocastrados e fêmeas

A presente pesquisa foi realizada com o objetivo de avaliar os níveis de colesterol, extrato etéreo, perfil de ácidos graxos e o índice aterogênico e trombogênico da gordura intramuscular de suínos machos imunocastrados em relação às fêmeas e aos machos castrados cirurgicamente. Utilizaram-se 45 animais, com peso inicial de 25,2±2,8kg, distribuídos em delineamento inteiramente ao acaso, com três tratamentos (machos castrados, machos e fêmeas imunocastrados) e três repetições de cinco animais cada. Os animais foram abatidos a 90,3±2,7kg. As amostras de Longissimus dorsi foram coletadas, liofilizadas e analisadas quanto ao perfil de ácidos gordos, colesterol e extrato etéreo. Não foram observadas diferenças (P>0,05) para nenhuma das variáveis analisadas entre a gordura intramuscular de machos castrados cirurgicamente, machos imunocastrados e fêmeas. A imunocastração não alterou os níveis intramusculares de extrato etéreo, colesterol, composição de ácidos graxos ou o índice aterogênico e trombogênico do Longissimus dorsi.(AU)

La pediatría en las Jornadas Internacionales de Cine Médico de San Sebastián / Pediatrics at the International Medical Film Festival of San Sebastián

Introducción: Las Jornadas Internacionales de Cine Médico de San Sebastián fueron una actividad científica y divulgativa del cine médico (22 ediciones) cuando el acceso a estas proyecciones era muy dificultoso (1969-1991). El objetivo del presente trabajo es analizar la presencia de los temas pediátricos y su repercusión en dichas jornadas. Método: Revisión de la prensa local entre los años 1968 y 1980, los programas de mano entre los años 1981 y 1991, los boletines informativos y las memorias de las Jornadas. Resultados: De las 899 películas entre cine y vídeo presentadas en las Jornadas, 103 fueron de tema pediátrico, lo que supone un 11,4% de las mismas. Se analizan los premios, los ciclos especiales de películas y los ciclos de conferencias relativas a la atención a la infancia y la adolescencia. Conclusiones: A pesar de que la orientación de las Jornadas era eminentemente quirúrgica, la presencia de la pediatría, sobre todo en su vertiente de educación sanitaria, fue importante. La educación sexual, la psicología y la discapacidad infantil fueron los temas más presentes (AU)

Introduction: San Sebastian International Medical Film Journeys were a scientific and educational activity of medical film (22 editions) when the access to these projections was very difficult. The objective of the present study is to analyze the presence of Pediatric subjects and their impact on these journeys. Method: Review of the local press (years 1968-1980), the programs hand (years 1981-1991), newsletters and the memories of the journeys. Results: 899 movies, film or video, were presented in the Journeys. One hundred and three of them were about Pediatric subject, representing 11.4%. We are going to analyze them awards, special cycles of movies and conferences. Conclusions: The orientation of these journeys was eminently surgical, but the presence of the Pediatrics was important, above all in his shed of education health. The themes sex education, psychology, and child disability were the most present (AU)

Urinary Clara Cell Protein in Kidney Transplant Patients: A Preliminary Study.

OBJECTIVE: The aim of this exploratory study was to analyze the urinary excretion of Clara cell protein (CC16), a new marker of proximal tubular dysfunction (PTD), in kidney transplantation (KT). MATERIALS AND METHODS: Urinary concentrations of CC16, ß2-microglobulin (ß2m), and N-acetyl-glucosaminidase (NAG) were measured in 50 KT patients (72% men; mean age 50.4 ± 12.4 years; diabetes in 24%; duration of KT 4.3 ± 3.1 years) and 10 healthy controls (6 men; mean age 33.6 ± 13.4 years). RESULTS: Urinary levels of ß2m, NAG, and CC16 were significantly higher in KT patients than in controls: ß2m: 0.77 (interquartile range [IQ] 0.22 to 4.62) g/g vs 0.069 (IQ 0.05 to 0.10) g/g; NAG: 3.16 (IQ 2.09 to 5.33) U/g vs 1.73 (IQ 1.25 to 2.07) U/g; CC16: 26.01 (IQ 8.62 to 123.3) g/g vs 2.51 (IQ 0.83 to 7.18) g/g (P < .001). Elevated levels of ß2m, NAG, and CC16 were found in 81%, 28%, and 71% of KT patients, respectively. Urinary levels of ß2m, NAG, and CC16 significantly increase as glomerular filtration rate (GFR) decreases. Interestingly, in patients with GFR >60 mL/min, we still found high levels of ß2m, NAG, and CC16 in 77%, 13%, and 52%, respectively. Diabetic subjects had significant higher levels of the 3 markers compared with nondiabetic subjects, without differences in albumin excretion or GFR. CC16 showed a positive correlation with urinary albumin (r = 0.42, P < .001), NAG (r = 0.352, P < .05), and ß2m (r = 0.75, P < .001). CONCLUSION: PTD is highly prevalent in KT patients. This is the first study that analyzes CC16 in KT patients, showing that the urinary excretion of this protein is significantly increased in this population. Further studies are needed to examine the clinical value of CC16 in KT patients.

Hematuria asociada a enfermedad ataxia telangiectasia. Revisión de la literatura y propuesta de tratamiento de una hematuria de difícil manejo / Haematuria associated with ataxia telangiectasia disease: A literature review and a proposed treatment for a difficult to manage haematuria

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Renal myxoma: an unexpected differential diagnosis.

Myxomas are rare mesenchymal tumors that can appear in many anatomical locations, although they are mainly seen in heart and skin. To date, only twelve cases of pure renal myxomas have been reported in the literature. We describe a case of a young Cuban woman with an asymptomatic irregular cyst lesion in her left kidney which was eventually diagnosed as renal myxoma. We also provide radiological and pathological studies.

Tal como éramos. En el centenario del Primer Congreso Español de Pediatría de Palma de Mallorca (1914-2014) / The way we were. On the centenary of the first Spanish Congress of Paediatrics in Palma de Mallorca (1914-2014)

Entre los días 19 y 25 de abril de 1914 se celebró en Palma de Mallorca el Primer Congreso Español de Pediatría, bajo el lema «Proteged a los niños». La especialidad se había desgajado hacía pocos años de su secular vinculación con la Obstetricia y la Ginecología, tanto en su aspecto docente como asistencial. Con las cátedras de Enfermedades de la Infancia recién creadas, en cierto modo, este Congreso significaba la puesta de largo de la Pediatría en nuestro país. El Prof. Martínez Vargas, catedrático en Barcelona, fue el presidente y el alma del Congreso. Era preciso hacer frente a una elevadísima tasa de mortalidad infantil. El Congreso respondió a aquella demanda social y sanitaria en la que participaron más de 300 pediatras, con representantes extranjeros de Bélgica, Francia, Rusia e Hispanoamérica. Las actividades se distribuyeron en 4 secciones: Puericultura, Medicina Infantil, Cirugía e Higiene, y acreditados profesores impartieron conferencias magistrales sobre los temas de la patología infantil más acuciantes de la época. Cien años después, lo que hoy somos es el fruto recogido de quienes nos precedieron; unos fueron figuras brillantes de la pediatría y otros, la mayoría, pediatras anónimos. Consagraron sus vidas, su ciencia y la mejor de sus sonrisas al cuidado del niño. Así éramos, y así somos. Con satisfacción y legítimo orgullo, es un honor, para el Grupo de Historia de la Pediatría y Documentación de la AEP, celebrar esta conmemoración centenaria en el marco de Anales de Pediatría

Between the 19th and 25th April 1914, the First Spanish Congress of Paediatrics was held in Palma de Mallorca under the slogan ''Protect the Children''. The specialty had broken away a few years earlier from its secular connection with Obstetrics and Gynaecology, both in its teaching aspect as well as regarding healthcare. With the newly created Chairs in Childhood Diseases, in a way this Congress meant the coming-of age and debut int society of paediatrics in our country. Prof. Martínez Vargas, a university professor in Barcelona, was the Chairman, and soul of the congress. There was a need to face a very high rate of infant mortality. The Congress responded to that social and sanitary/health demand with the participation of over three hundred pediatricians, including foreign representatives from Belgium, France, Russia and Latin America. The activities were divided into four sections: Childcare, Child Medicine, Surgery and Health, and accredited lecturers gave master classes on the most pressing issuesof child pathology of the time. One hundred years on, what we are today is the fruit gatheredby those who preceded us. Some were brilliant figures in paediatrics and others, the majority, anonymous paediatricians. They dedicated their lives, their science and their best smile to child care. The way we were and the way we are. With legitimate pride and satisfaction, it is an honour for the Group on the History of Paediatrics and AEP Documentation to celebrate this centennial commemoration in the framework of the Annals of Paediatrics

Documento de consenso: recomendaciones sobre la utilización de ecuaciones para la estimación del filtrado glomerular en niños / Consensus document: Recommendations for the use of equations to estimate glomerular filtration rate in children

La aparición de las guías K/DOQI en el año 2002 sobre definición, evaluación y clasificación en estadios de la enfermedad renal crónica (ERC) han supuesto un cambio importante en la forma de evaluar la función renal en adultos y en niños. Estas guías, recientemente actualizadas, recomiendan que el estudio de la función renal se realice a partir de la medida de la concentración sérica de creatinina y de la estimación del filtrado glomerular (FG) obtenido mediante una ecuación. Sin embargo, la implementación de esta recomendación en los informes del laboratorio clínico en población pediátrica ha sido casi nula. Los estudios aparecidos en los últimos años sobre la importancia de la detección y seguimiento de los pacientes con ERC, la aparición de nuevas ecuaciones de estimación del FG y los avances en los laboratorios clínicos respecto a los métodos de medida de creatinina y de cistatina C han determinado la colaboración entre los servicios de pediatría y de los laboratorios clínicos con objeto de establecer recomendaciones homogéneas y basadas en la mejor evidencia científica sobre la utilización de las ecuaciones de estimación del FG en este grupo de población. El objetivo de este documento es proporcionar recomendaciones sobre la evaluación de la función renal y la utilización de ecuaciones de estimación del FG en niños. Los destinatarios de estas recomendaciones son los pediatras, nefrólogos, bioquímicos clínicos, analistas clínicos y todos los profesionales de la salud relacionados con el estudio y la evaluación de la función renal de este grupo de pacientes (AU)

The appearance of the K/DOQI guidelines in 2002 on the definition, evaluation and staging of chronic kidney disease (CKD) have led to a major change in how to assess renal function in adults and children. These guidelines, recently updated, recommended that the study of renal function is based, not only on measuring the serum creatinine concentration, but this must be accompanied by the estimation of glomerular filtration rate (GFR) obtained by an equation. However, the implementation of this recommendation in the clinical laboratory reports in the paediatric population has been negligible. Numerous studies have appeared in recent years on the importance of screening and monitoring of patients with CKD, the emergence of new equations for estimating GFR, and advances in clinical laboratories regarding the methods for measuring plasma creatinine and cystatin C, determined by the collaboration between the departments of paediatrics and clinical laboratories to establish recommendations based on the best scientific evidence on the use of equations to estimate GFR in this population. The purpose of this document is to provide recommendations on the evaluation of renal function and the use of equations to estimate GFR in children from birth to 18 years of age. The recipients of these recommendations are paediatricians, nephrologists, clinical biochemistry, clinical analysts, and all health professionals involved in the study and evaluation of renal function in this group of patients (AU)

[The way we were. On the centenary of the first Spanish Congress of Paediatrics in Palma de Mallorca (1914-2014)]. / Tal como éramos. En el centenario del Primer Congreso Español de Pediatría de Palma de Mallorca (1914-2014).

Between the 19th and 25th April 1914, the First Spanish Congress of Paediatrics was held in Palma de Mallorca under the slogan "Protect the Children". The specialty had broken away a few years earlier from its secular connection with Obstetrics and Gynaecology, both in its teaching aspect as well as regarding healthcare. With the newly created Chairs in Childhood Diseases, in a way this Congress meant the coming-of age and debut int society of paediatrics in our country. Prof. Martínez Vargas, a university professor in Barcelona, was the Chairman, and soul of the congress. There was a need to face a very high rate of infant mortality. The Congress responded to that social and sanitary/health demand with the participation of over three hundred pediatricians, including foreign representatives from Belgium, France, Russia and Latin America. The activities were divided into four sections: Childcare, Child Medicine, Surgery and Health, and accredited lecturers gave master classes on the most pressing issues of child pathology of the time. One hundred years on, what we are today is the fruit gathered by those who preceded us. Some were brilliant figures in paediatrics and others, the majority, anonymous paediatricians. They dedicated their lives, their science and their best smile to child care. The way we were and the way we are. With legitimate pride and satisfaction, it is an honour for the Group on the History of Paediatrics and AEP Documentation to celebrate this centennial commemoration in the framework of the Annals of Paediatrics.

[Consensus document: recommendations for the use of equations to estimate glomerular filtration rate in children]. / Documento de consenso: recomendaciones sobre la utilización de ecuaciones para la estimación del filtrado glomerular en niños.

The appearance of the K/DOQI guidelines in 2002 on the definition, evaluation and staging of chronic kidney disease (CKD) have led to a major change in how to assess renal function in adults and children. These guidelines, recently updated, recommended that the study of renal function is based, not only on measuring the serum creatinine concentration, but this must be accompanied by the estimation of glomerular filtration rate (GFR) obtained by an equation. However, the implementation of this recommendation in the clinical laboratory reports in the paediatric population has been negligible. Numerous studies have appeared in recent years on the importance of screening and monitoring of patients with CKD, the emergence of new equations for estimating GFR, and advances in clinical laboratories regarding the methods for measuring plasma creatinine and cystatin C, determined by the collaboration between the departments of paediatrics and clinical laboratories to establish recommendations based on the best scientific evidence on the use of equations to estimate GFR in this population. The purpose of this document is to provide recommendations on the evaluation of renal function and the use of equations to estimate GFR in children from birth to 18 years of age. The recipients of these recommendations are paediatricians, nephrologists, clinical biochemistry, clinical analysts, and all health professionals involved in the study and evaluation of renal function in this group of patients.

Bibliografía española de algunos síndromes malformativos. Las primeras descripciones / Malformation syndromes in the spanish literature: The first descriptions

Introducción: Los síndromes malformativos o dismórficos son entidades que se definen por la asociación característica de un conjunto de malformaciones mayores y menores que, generalmente, tienen un origen genético. Hemos investigado las primeras descripciones españolas de un amplio número de entidades sindrómicas. Material y métodos: Se partió de la definición que aparece en un tratado clásico sobre el tema. Entre los 60 síndromes escogidos, se estudiaron, al menos, 2 artículos de cada entidad entre los publicados en España y el primero en el tiempo que figura en el Índice Médico Español. Para los años previos a 1970, se amplió la búsqueda en PubMed. Resultados: Se han reunido 64 artículos que corresponden a 58 síndromes. Cuatro artículos se escribieron durante la primera mitad del siglo XX . En la década de los setenta aparecieron casi la mitad de los trabajos (n = 30). Los trabajos se publicaron en 10 revistas pediátricas españolas, en 9 españolas no pediátricas, en 3 pediátricas no españolas y en 2 no pediátricas y no españolas. Las revistas con más artículos publicados fueron Anales de Pediatría y Revista Española de Pediatría. Los hospitales que firmaron artículos con más frecuencia fueron La Paz de Madrid y el Clínico de Barcelona. El resto de los trabajos se escribieron en 30 hospitales pediátricos españoles más y en 2 extranjeros. El número de autores se fue incrementando con el paso del tiempo. Conclusiones: Aunque con posibles limitaciones, hemos localizado las que pueden ser las primeras descripciones de 58 síndromes, entre los 60 escogidos inicialmente (AU)

Introduction: Malformation or dysmorphic syndromes are conditions that are defined by the combination of a set of major and minor malformations that generally have a genetic origin. We investigated the early Spanish descriptions of a large number of sydromes. Material and methods: We started the study from the definition in a classic treatise on the subject. Among the 60 selected syndromes studied, at least two articles of each syndrome among those published in Spain and for the first time were listed in the Spanish Medical Index. For years prior to 1970, it expanded The search was expanded to PubMed, for the years before1970.Results: We collected 64 articles that referred to 58 syndromes. Four articles were written during the first half of the twentieth century. Almost half of the works (n = 30) appeared in the 1970’s. The papers were published in ten Spanish pediatric, nine Spanish non pediatric, three pediatric non-Spanish and two non-Spanish non-pediatric Journals. The Journals with the most articles published were Anales de Pediatría y Revista Española de Pediatría. The hospitals where the articles originate more often were Hospital La Paz, Madrid and Hospital Clinic, Barcelona. The rest of the works were written in 30 pediatric hospitals and two more in non-Spanish hospitals. The number of authors increased with the passage of time. Conclusions: Although there were potential limitations, we have identified what may be the first descriptions of 58 syndromes, among the 60 chosen initially (AU)

[Malformation syndromes in the spanish literature: The first descriptions]. / Bibliografía española de algunos síndromes malformativos. Las primeras descripciones.

INTRODUCTION: Malformation or dysmorphic syndromes are conditions that are defined by the combination of a set of major and minor malformations that generally have a genetic origin. We investigated the early Spanish descriptions of a large number of sydromes. MATERIAL AND METHODS: We started the study from the definition in a classic treatise on the subject. Among the 60 selected syndromes studied, at least two articles of each syndrome among those published in Spain and for the first time were listed in the Spanish Medical Index. For years prior to 1970, it expanded The search was expanded to PubMed, for the years before 1970. RESULTS: We collected 64 articles that referred to 58 syndromes. Four articles were written during the first half of the twentieth century. Almost half of the works (n=30) appeared in the 1970's. The papers were published in ten Spanish pediatric, nine Spanish non-pediatric, three pediatric non-Spanish and two non-Spanish non-pediatric Journals. The Journals with the most articles published were Anales de Pediatría y Revista Española de Pediatría. The hospitals where the articles originate more often were Hospital La Paz, Madrid and Hospital Clinic, Barcelona. The rest of the works were written in 30 pediatric hospitals and two more in non-Spanish hospitals. The number of authors increased with the passage of time. CONCLUSIONS: Although there were potential limitations, we have identified what may be the first descriptions of 58 syndromes, among the 60 chosen initially.

El ocaso del artículo / The decline of the article

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Discípulos y maestros. Lo que aprendimos de Juan Rodríguez Soriano / Disciples and teachers. What we learn from Juan Rodríguez Soriano

Juan Rodríguez Soriano (1933-2010) fue un eminente nefrólogo pediátrico español, formador de varias generaciones de pediatras y nefrólogos pediátricos. Estaba considerado internacionalmente como uno de los pioneros de la nefrología pediátrica y, referente, en el de las tubolopatías. Su prestigio en esa especialidad fue unánimemente reconocido. Realizó sus estudios de Medicina en la Universidad de Barcelona. En 1959, obtuvo, una beca para ampliar su formación en el Hópital des Enfants Malades de Paris. En 1963 fue admitido en el Albert Einstein College of Medicine de Nueva York, en el que identificó la acidosis tubular proximal renal como una entidad fisopatológica independiente. En 1970, se hizo cargo del Departamento de Pediatría del Hospital Universitario de Cruces, cerca de Bilbao. Alklí, junto a Alfredo Vallo, siguió investigando y publicando sobre muchos temas pediátricos pero, especialmente sobre diversos aspectos de sus dos grandes temas de interés, las pruebas de función renal y las grandes temas de interés, las pruebas de función renal y la tubulopatías. A lo largo de 30 años, ambos desarrollaron las bases para la creación de una auténtica “escuela científica” nefrológica pediátrica (AU)

Juan Rodríguez Soriano (1933-2010) was an eminent Spanish nephrologist, forming several generations of paediatricians and paediatric nephrologist. He was internationally regarded as one of the pioneers of paediatric nephrology, and reference in tubolopathies. His reputation in that field was unanimously recognized. He studied medicine at the University of Barcelona. In 1959, he won a scholarship to further their training in the Hospital des Enfants Malades in Paris. In 1963 he was admitted to the Albert Einstein College of Medicine in New York where identified the proximal renal tubular acidosis as an independent physiopathological entity. In 1970, he took charge of the Department of Pediatrics, University Hospital of Cruces, Bilbao. There, nex to to Alfredo Vallo, continued its research and publications on many paediatric topics, but especially on various aspects of its two main topics of interest: renal function test and tubulopathies. Over 30 years, both developed the basis for creating a true “scientific school” of the paediatric nephrology (AU)