Molecular characterisation of a common SDHB deletion in paraganglioma patients.

BACKGROUND: Hereditary susceptibility to familial paraganglioma syndromes is mainly due to mutations in one of six genes, including three of the four genes encoding the subunits of the mitochondrial succinate dehydrogenase complex II. Although prevalence, penetrance and clinical characteristics of patients carrying point mutations affecting the genes encoding succinate dehydrogenase have been well studied, little is known regarding these clinical features in patients with gross deletions. Recently, we found two unrelated Spanish families carrying the previously reported SDHB exon 1 deletion, and suggested that this chromosomal region could be a hotspot deletion area. METHODS: We present the molecular characterisation of this apparently prevalent mutation in three new families, and discuss whether this recurrent mutation is due either to the presence of a founder effect or to a hotspot. RESULTS: The breakpoint analysis showed that all Iberian Peninsular families described harbour the same exon 1 deletion, and that a different breakpoint junction segregates in an affected French pedigree. CONCLUSIONS: After haplotyping the SDHB region, we concluded that the deletion detected in Iberian Peninsular people is probably due to a founder effect. Regarding the clinical characteristics of patients with this alteration, it seems that the presence of gross deletions rather than point mutations is more likely related to abdominal presentations and younger age at onset. Moreover, we found for the first time a patient with neuroblastoma and a germline SDHB deletion, but it seems that this paediatric neoplasia in a pheochromocytoma family is not a key component of this disease.

Motility abnormalities in esophageal body in GERD: are they truly related to reflux?

BACKGROUND: Esophageal motility abnormalities have been observed in patients with gastroesophageal reflux disease. GOALS: The aim of the present study was to determine if esophageal motor disorders in patients with a positive response to the omeprazole test are related to the existence of reflux or they are concomitant findings. STUDY: A 24-hour pH monitoring and a stationary manometry were performed on 128 patients: 49 of them had normal manometry, 31 hypotensive lower esophageal sphincter, 29 motor disorder in esophageal body, and 19 hypotensive lower esophageal sphincter and motor disorder in esophageal body. RESULTS: We found an association between the presence of abnormal reflux and motor disorder in esophageal body (chi test; P < 0.05). However, ineffective esophageal motility was the disorder most strongly related to reflux, whereas the hypercontractile disorders were not clearly attributed to it. CONCLUSIONS: Esophageal manometric abnormalities should be considered cautiously before considering a motor disorder as a consequence of abnormal reflux.

[Sedation in upper gastrointestinal endoscopy. Analysis of tolerance, complications and cost-effectiveness]. / Sedación en la endoscopia gastrointestinal alta. Análisis de la tolerancia, las complicaciones y el coste-efectividad.

INTRODUCTION AND AIM: Sedation of patients is an important complement to endoscopic procedures. The aim of this study was to analyze tolerance, complications and cost-effectiveness in patients undergoing diagnostic upper gastrointestinal endoscopy. PATIENTS AND METHOD: A total of 357 patients were prospectively studied: 138 non-sedated, 116 sedated with midazolam and 103 sedated with midazolam and meperidine. Subjective tolerance, tolerance perceived by the endoscopist, complications, and cost-effectiveness were evaluated. The Chi-square test was used for the statistical analysis. P-values of less than 0.05 were considered statistically significant. RESULTS: Subjective tolerance was greater in patients sedated with midazolam and meperidine than in the other groups (p < 0.05). Tolerance perceived by the endoscopist was greater in the group sedated with both drugs than in the group sedated with midazolam (p < 0.05). Subjective tolerance was better in sedated men and women but there was no association between sedation and perceived tolerance according to sex. Subjective tolerance was better in sedated patients older than 70 years than in those younger than 40 years (p < 0.05). Complications were more frequent in sedated patients and the most frequent complication in all the groups studied was mild desaturation; there was a significant difference between the group sedated with midazolam and meperidine and the non-sedated group (p < 0.05). Non-sedation had the best cost-effectiveness ratio but sedation with midazolam and meperidine was the most effective alternative. CONCLUSION: From the point of view of the endoscopist, endoscopy can be performed without sedation, although subjective tolerance is greater in patients sedated with midazolam and meperidine. Non-sedation is more cost-effectiveness than sedation but if sedation is required midazolam and meperidine achieve better results in terms of effectiveness than midazolam alone.

Sedación en la endoscopia gastrointestinal alta. Análisis de la tolerancia, las complicaciones y el coste-efectividad / Sedation in upper gastrointestinal endoscopy. Analysis of tolerance, complications and cost-effectiveness

Introducción y objetivo: La sedación del paciente es un importante complemento de los procedimientos endoscópicos. El objetivo de nuestro trabajo ha sido el análisis de la tolerancia, las complicaciones y el coste-efectividad de la sedación en pacientes sometidos a endoscopia gastrointestinal diagnóstica alta. Pacientes y método: Se estudió a 357 pacientes prospectivamente: 138 no sedados, 116 sedados con midazolam y 103 sedados con midazolam y meperidina. Se analizaron la tolerancia subjetiva, la tolerancia percibida por el endoscopista, las complicaciones y el coste-efectividad. Para el análisis estadístico se utilizó la prueba de la c2, y valores de p < 0,05 se consideraron estadísticamente significativos. Resultados: La tolerancia subjetiva fue mejor en pacientes sedados con midazolam y meperidina que en los otros grupos (p < 0,05). Respecto a la tolerancia percibida, se encontró diferencia entre el grupo sedado con ambas drogas y el grupo sedado con midazolam (p < 0,05). La tolerancia subjetiva fue mejor tanto en mujeres como en varones sedados, pero no hubo una asociación entre la sedación y la tolerancia percibida en ninguno de los sexos. La tolerancia subjetiva fue mejor en pacientes sedados mayores de 70 años que en los pacientes menores de 40 (p < 0,05). Las complicaciones fueron más frecuentes en pacientes sedados; la más frecuente en todos los grupos fue la desaturación leve; se observó una diferencia significativa entre el grupo sedado con los 2 fármacos y el no sedado (p < 0,05). La alternativa de no sedación es la que consigue una mejor relación coste-efectividad, pero la sedación con midazolam y meperidina es la más efectiva. Conclusión: La endoscopia puede realizarse sin sedación desde el punto de vista del endoscopista, pero la tolerancia subjetiva es mejor en pacientes sedados con midazolam y meperidina. Respecto al coste-efectividad, la mejor alternativa es la no sedación pero, en caso de precisarse sedación, la opción midazolam más meperidina ofrece una mejor efectividad que el midazolam aislado

Introduction and aim: Sedation of patients is an important complement to endoscopic procedures. The aim of this study was to analyze tolerance, complications and cost-effectiveness in patients undergoing diagnostic upper gastrointestinal endoscopy. Patients and method: A total of 357 patients were prospectively studied: 138 non-sedated, 116 sedated with midazolam and 103 sedated with midazolam and meperidine. Subjective tolerance, tolerance perceived by the endoscopist, complications, and cost-effectiveness were evaluated. The Chi-square test was used for the statistical analysis. P-values of less than 0.05 were considered statistically significant. Results: Subjective tolerance was greater in patients sedated with midazolam and meperidine than in the other groups (p < 0.05). Tolerance perceived by the endoscopist was greater in the group sedated with both drugs than in the group sedated with midazolam (p < 0.05). Subjective tolerance was better in sedated men and women but there was no association between sedation and perceived tolerance according to sex. Subjective tolerance was better in sedated patients older than 70 years than in those younger than 40 years (p < 0.05). Complications were more frequent in sedated patients and the most frequent complication in all the groups studied was mild desaturation; there was a significant difference between the group sedated with midazolam and meperidine and the non-sedated group (p < 0.05). Non-sedation had the best cost-effectiveness ratio but sedation with midazolam and meperidine was the most effective alternative. Conclusion: From the point of view of the endoscopist, endoscopy can be performed without sedation, although subjective tolerance is greater in patients sedated with midazolam and meperidine. Non-sedation is more cost-effectiveness than sedation but if sedation is required midazolam and meperidine achieve better results in terms of effectiveness than midazolam alone

Role of stationary esophageal manometry in clinical practice. Manometric results in patients with gastroesophageal reflux, dysphagia or non-cardiac chest pain.

The present study was carried out to evaluate the diagnostic usefulness of stationary esophageal manometry in 263 patients divided into three groups: 150 patients with reflux symptoms, 68 with dysphagia, and 45 with non-cardiac chest pain. Patients with endoscopic abnormalities were excluded. Standard manometry was performed following the station pull-through technique. In the group of patients with reflux symptoms 40.7% had a normal manometry and 57.3% had abnormalities, being the most frequent (43%) hypotensive lower esophageal sphincter. In the dysphagia group, 20.6% of manometries were normal and 79.4% were abnormal, of which achalasia was the most frequent disorder (53.7%). In the case of non-cardiac chest pain, 42.2% of patients had a normal manometry and 57.8% an abnormal one, of which hypotensive lower esophageal sphincter was the most frequent abnormality. A significant higher proportion of manometric alterations were found in the dysphagia group compared to reflux symptoms and non-cardiac chest pain (p < 0.05). No statistical differences were found between the reflux and the non-cardiac chest pain groups. Manometry yields a higher diagnostic value in patients with dysphagia, and therefore manometry should be performed routinely after the exclusion of any organic esophageal disease. Manometry is not a first-choice functional diagnostic test in the study of patirnts with gastroesophageal reflux or non-cardiac chest pain.

Enfermedad celiaca en paciente con criterios Roma II de síndrome de intestino irritable / Celiac disease in a patient with Rome II criteria of irritable bowell syndrome

No disponible

[Macroprolactin as etiology of hyperprolactinemia. Method for detection and clinical characterization of the entity in 39 patients]. / Macroprolactina como causa de hiperprolactinemia. Método de detección y caracterización clínica de la entidad en 39 pacientes.

The presence of serum macroprolactin is a relatively frequent situation that can lead to expensive explorations and ineffective treatments. The precipitation with polyethylene glycols permits its detection rapidly, trustworthily, and inexpensively. The objective of the present work has been to assess the incidence of macroprolactin in patients with hyperprolactinemia through its identification with polyethylene glycols, as well as the clinical and radiological findings, and the response in these patients to the treatment. For it the clinical history of all the cases in which there was detected macroprolactinemia, some of them with several years of previous follow-up, was reviewed exhaustively. Of the 1505 patients in which prolactin level was determined, 195 (13%) showed values higher than 40 microg/l. In 39 (20%) of them the presence of macroprolactin was detected. After observing the evolution of these patients, spontaneously or under treatment with dopaminergic agonists, a clear relationship of causality between the presence of macroprolactin and the clinical manifestations was not found, except in a case of galactorrhea. In 27 cases nuclear magnetic resonance was done; in 4 of them a picture was observed compatible with small microadenoma or microcyst and in no patient a macroadenoma was detected. We conclude that the macroprolactinemia is a relatively frequent and easily detected entity through precipitation with polyethylene glycols. It has a limited relation with the clinical findings and there should always be sought other possible causes of this situation. It is an apparently benign situation and its identification can avoid unnecessary explorations and treatments.

Macroprolactina como causa de hiperprolactinemia. Método de detección y caracterización clínicade la entidad en 39 pacientes / Macroprolactin as etiology of hyperprolactinemia. Method for detection and clinical characterization of the entity in 39 patients

La presencia de macroprolactina sérica es un hecho relativamente frecuente que puede conducir a exploraciones costosas y tratamientos ineficaces. La precipitación con polietilenglicol permite su detección de forma rápida, fiable y barata. El objetivo del presente trabajo ha sido valorar la incidencia de macroprolactina en pacientes con hiperprolactinemia mediante su identificación con polietilenglicol, así como los hallazgos clínicos, radiológicos y respuesta al tratamiento en dichos pacientes. Para ello se revisó exhaustivamente la historia clínica de todos los casos en que se detectó macroprolactinemia, algunos de ellos con varios años de seguimiento previo. De los 1.505 pacientes en los que se determinó prolactina, 195 (13 por ciento) presentaron valores mayores de 40 µg/l. En 39 (20 por ciento) de ellos se detectó la presencia de macroprolactina. Tras observar la evolución de los mismos, espontánea o bajo tratamiento con agonistas dopaminérgicos, no se encontró una relación clara de causalidad entre la presencia de macroprolactina y las manifestaciones clínicas, excepto en un caso de galactorrea. En 27 casos se practicó resonancia magnética nuclear (RMN), en 4 de ellos se apreció imagen compatible con pequeño microadenoma o microquiste y en ninguno macroadenoma. Concluimos que la macroprolactinemia es una entidad relativamente frecuente y de fácil detección mediante precipitación con polietilenglicol. Presenta una escasa relación con los hallazgos clínicos y se deben buscar siempre otras posibles causas de los mismos. Se trata de una situación aparentemente benigna y su identificación puede evitar exploraciones y tratamientos innecesario (AU)

Bocio, función tiroidea y excreción de yodo en gestantes de la zona de El Bierzo / Goiter, thyroid function and iodine excretion in pregnant women from the area of El Bierzo (Spain)

Estudios publicados en el año 1993 demuestran alta incidencia de bocio en escolares de la zona de El Bierzo. Hemos valorado mediante encuesta el consumo de sal yodada, la preencia de bocio mediante palpación y ecografía, la función tiroidea midiendo concentraciones hormonales en plasma y la excreción de yodo en orina y leche mediante el método de Benotti, en un grupo de mujeres embarazadas de la zona, en los tres trimestres de la gestación y en el posparto. Nuestros resultados demuestran escaso consumo de sal yodada, endemia bociosa grave, hipotiroxinemia materna, pobre excreción de yodo en orina en las gestantes y escasa presencia de yodo en la leche materna. Todo ello indica la necesidad de campañas institucionales para remediar la situación (AU)

[Priapism secondary to testosterone administration in the treatment of delayed puberty]. / Priapismo secundario a la administración de testosterona en el tratamiento del retraso puberal.

OBJECTIVE: To describe a case of priapism following testosterone administration. METHODS/RESULTS: A 14-year-old boy treated with testosterone for delayed puberty presented with priapism after the administration of a single depot dose of 100 mg testosterone. Punction-aspiration of the corpora cavernosa was required to resolve the priapism. CONCLUSION: Administration of testosterone for delayed male puberty is safe but may occasionally cause priapism.