Enfermedad de Hirayama: ¿operar o no operar? / Hirayama disease: Is surgery an option?

Introducción: La enfermedad de Hirayama es una rara mielopatía cervical mucho más frecuente en hombres jóvenes, que cursa con atrofia distal en los brazos como primer y principal síntoma. Es importante diferenciarla de las enfermedades de las motoneuronas porque su historia natural es distinta, con tendencia hacia la estabilización en menos de 5 años. El diagnóstico se basa en los hallazgos clínicos y en la RM dinámica (en flexión del cuello), que detecta la atrofia medular segmentaria, el despegamiento posterior de la dura madre y la congestión venosa en el espacio epidural. La tendencia es a indicar un tratamiento conservador pero no está establecido cuál puede ser el papel de la cirugía. Pacientes: Se presentan 4 casos que cumplen los criterios clínicos y de imagen en RM dinámica para diagnóstico de enfermedad de Hirayama. Dos están en fase de estabilización espontánea después de muchos años de evolución y en la RM se demuestra la desaparición de las alteraciones típicas. Otro caso también permanece estable con menos tiempo de observación. El cuarto caso corresponde a un joven que en poco más de un año presenta una mielopatía grave, por lo que ha sido operado, manteniéndose estable tras una observación todavía corta. Conclusiones: Nuestros 4 casos indican que la mayoría de los pacientes con enfermedad de Hirayama se estabilizan de manera natural y que la intervención quirúrgica debe ser una decisión individual, probablemente limitada a los casos más graves con una evolución muy breve

Introduction: Hirayama disease is a rare cervical myelopathy, predominantly affecting young males, which presents with distal atrophy of the upper limbs as its first and main symptom. It must be differentiated from motor neuron diseases because its natural history is different and because HD tends to stabilise in less than 5 years. Diagnosis is based on clinical findings and dynamic flexion MRI showing segmental spinal muscular atrophy, detachment of the posterior dura mater and venous congestion in the epidural space. The tendency is to indicate conservative treatment and no indications for surgery have been established. Patients: We present 4 cases meeting both clinical criteria and dynamic MRI imaging criteria for a diagnosis of Hirayama disease. Two have stabilised spontaneously over the course of many years, and MRI scans show that typical changes have disappeared. Another case also remains stable following a shorter observation time. The fourth case is a young man who developed severe myelopathy in just over a year, and therefore underwent surgery. While his follow-up time is still short, his condition remains stable. Conclusions: Our 4 cases suggest that the condition of most patients with Hirayama stabilises naturally; patients should be evaluated for surgery on an individual basis, and surgery should probably be limited to the most severe cases that have progressed quickly

Hirayama disease: Is surgery an option?

INTRODUCTION: Hirayama disease is a rare cervical myelopathy, predominantly affecting young males, which presents with distal atrophy of the upper limbs as its first and main symptom. It must be differentiated from motor neuron diseases because its natural history is different and because HD tends to stabilise in less than 5 years. Diagnosis is based on clinical findings and dynamic flexion MRI showing segmental spinal muscular atrophy, detachment of the posterior dura mater and venous congestion in the epidural space. The tendency is to indicate conservative treatment and no indications for surgery have been established. PATIENTS: We present 4 cases meeting both clinical criteria and dynamic MRI imaging criteria for a diagnosis of Hirayama disease. Two have stabilised spontaneously over the course of many years, and MRI scans show that typical changes have disappeared. Another case also remains stable following a shorter observation time. The fourth case is a young man who developed severe myelopathy in just over a year, and therefore underwent surgery. While his follow-up time is still short, his condition remains stable. CONCLUSIONS: Our 4 cases suggest that the condition of most patients with Hirayama stabilises naturally; patients should be evaluated for surgery on an individual basis, and surgery should probably be limited to the most severe cases that have progressed quickly.

Tratamiento de las infecciones urinarias en pediatrían con extracto de arándano rojo americano / Treatment of pediatric urinary infections with North American red cranberry concentrated extract

Introducción: En la búsqueda de alternativas a la quimioprofilaxis antibiótica en la prevención de las infecciones urinarias (ITU) en el niño, hemos comenzado a utilizar un extracto de arándano rojo americano con 118 mg de proantocianidinas. Éstas inhiben la adherencia a la pared de la vía urinaria de Escherichia coli fimbriada tipo P. Objetivos: Observar la eficacia y la tolerancia de un extracto de arándanos en niños con ITU frecuentes. Material y métodos: Se seleccionan grupos de pacientes con ITU recidivantes frecuentes sin patología orgánica malformativa ni vejiga neuropática, litiasis o insuficiencia renal. El estudio observacional se efectuó durante 1 año en 62 niños de 5-17años de edad. Resultados: Se obtuvo un 100% de prevención de la pielonefritis aguda y un 92% de ausencia de infecciones sintomáticas. Conclusiones: Hemos observado una gran eficacia del producto, ausencia de efectos adversos y una muy buena aceptación por parte de los padres y los pacientes para realizar un tratamiento prolongado, así como una baja tasa de abandonos. Será necesario realizar estudios prospectivos, doble ciego, aleatorizados y controlados con placebo para poder establecer recomendaciones con un alto grado de evidencia (AU)

Introduction: In our search for alternatives to antibiotic chemoprophylaxis to prevent pediatric urinary infections, we have started to use a concentrated extract of North American red cranberries containing 118 mg of proanthocyanidins, the before mentioned inhibit the adherence of P-fimbriated Escherichia coli to the urinary tract wall. Objectives: To observe the effectiveness and tolerance of a concentrated extract of cranberries in children with frequent urinary tract infections. Material and methods: We selected groups of patients with frequently recurrent urinary infections, with no malformative systemic pathologies and either neuropathic bladder, lithiasis or renal failure. The observational study was conducted over one year in 62 children from 5 to 17 years old. Results: The results were quite satisfactory: 100% prevention of acute pyelonephritis, and 92% absence of symptomatic infections. Conclusions: We have been able to confirm the high effectiveness of the product, the absence of adverse effects, an excellent acceptance by the parents and patients regarding along-term treatment, and a very low rate of dropouts. Prospective double-blind randomized and placebo-controlled trials will be required in order to issue recommendations supported by a high degree of evidence (AU)

Histone deacetylase inhibitors induce FPGS mRNA expression and intracellular accumulation of long-chain methotrexate polyglutamates in childhood acute lymphoblastic leukemia: implications for combination therapy.

Children with acute lymphoblastic leukemia (ALL) diagnosed with resistant phenotypes, and those who relapse, have a dismal prognosis for cure. The antifolate methotrexate (MTX), a universal component of ALL therapies, is metabolized by folylpoly-gamma-glutamate synthetase (FPGS) into long-chain polyglutamates (MTX-PG(3-7)), resulting in enhanced cytotoxicity from prolonged inhibition of dihydrofolate reductase (DHFR) and thymidylate synthetase (TS). Using DNaseI assays, we identified a hypersensitive site upstream from exon-1, suggesting chromatin remodeling could alter FPGS expression. We demonstrated that histone deacetylase-1 (HDAC1) is recruited by NFY and Sp1 transcription factors to the FPGS promoter in ALL cell lines. We examined the effect of histone deacetylase inhibitors (HDACIs) sodium butyrate and suberoylanilide hydroxamic acid (SAHA) on the expression of FPGS and other folate-related genes. HDACIs increased FPGS mRNA expression by 2- to 5-fold, whereas DHFR and TS mRNA expression was decreased. Combination treatment with MTX plus SAHA significantly increased cytotoxicity and apoptosis in B- and T-ALL cell lines as compared with each drug alone (CI

[Adenocarcinoma in a ileal conduit after cystectomy for bladder exstrophy]. / Adenocarcinoma en conducto ileal después de cistectomía por extrofia vesical.

Exstrophy of the urinary bladder is an uncommon congenital anormaly for wich cystectomy was recommended because of a high risk of developing carcinoma. We report a patient treated by cystectomy and ileal loop diversion, who, 34 years later, developed carcinoma of the ileal loop. It is the third report of a tumor developing in a ileal conduit constructed after cystectomy for bladder exstrophy.

Adenocarcinoma en conducto ileal después de cistectomía por extrofia vesical / Adenocarcinoma in a ileal conduit after cystectomy for bladder exstrophy

La extrofia vesical es una patología congénita poco frecuente. Hace años se recomendó la realización decistectomía profiláctica por el riesgo de desarrollar carcinoma en la vejiga extrófica. Presentamos un caso de extrofia vesical tratado con cistectomía y conducto ileal, desarrollando 34 años después, un adenocarcinoma tipo intestinal en el asa del conducto ileal. Éste es el tercer caso de tumor descrito en un conducto ileal construido después de la cistectomía por extrofia vesical (AU)

Exstrophy of the urinary bladder is an uncommon congenital anormaly for wich cystectomy was recommended because of a high risk of developing carcinoma. We report a patient treated by cystectomy and ileal loop diversion, who, 34 years later, developed carcinoma of the ileal loop. It is the third report of a tumor developing in a ileal conduit constructed after cystectomy for bladder exstrophy (AU)

[Retroperitoneal ganglioneuroma in the infancy]. / Ganglioneuroma retroperitoneal en la infancia.

Specific management guides for suprarenal incidentalomas detected after birth do not exist for children, but due to the high proportion of malignant tumors, surgical resection is recommended. We present the case of a 7-year-old patient with a non-functioning left suprarenal incidentaloma. Surgical resection and subsequent anatomopathologic analysis of the mass confirmed the diagnosis of ganglioneuroma in process of maturation. Most ganglioneuromas are incidental and have a good prognosis due to their benign behaviour, even though malignant transformation has also been described, for which reason postoperative controls to detect local recurrence and occurrence of new foci are recommended.

Ganglioneuroma retroperitoneal en la infancia / Retroperitoneal ganglioneuroma in the infancy

En la infancia, no existen guías específicas para el manejo de los incidentalomas suprarrenales detectados postnatalmente, pero dada la alta proporción de tumores malignos se recomienda su resección quirúrgica. Presentamos el caso de una paciente de 7 años diagnosticada de un incidentaloma suprarrenal izquierdo no funcionante. La exéresis quirúrgica de dicha masa y el posterior estudio histopatológico confirmaron el diagnóstico de ganglioneuroma en proceso de maduración. La mayoría de ganglioneuromas son incidentales y presentan un buen pronóstico dado su comportamiento benigno, aunque está descrita la transformación maligna, recomendándose realizar controles postoperatorios para detectar las recidivas locales y la aparición de nuevos focos (AU)

Specific management guides for suprarenal incidentalomas detected after birth do not exist for children, but due to the high proportion of malignant tumors, surgical resection is recommended. We present the case of a 7-yearoldpatient with a non-functioning left suprarenal incidentaloma. Surgical resection and subsequent anatomopathologic analysis of the mass confirmed the diagnosis of ganglioneuroma in process of maturation. Most ganglioneuromas are incidental and have a good prognosis due to their benign behaviour, even though malignant transformation has also been described, for which reason postoperative controls to detect local recurrence and occurrence of new foci are recommended (AU)

Outcomes after HLA-matched sibling transplantation or chemotherapy in children with acute lymphoblastic leukemia in a second remission after an isolated central nervous system relapse: a collaborative study of the Children's Oncology Group and the Center for International Blood and Marrow Transplant Research.

In children with acute lymphoblastic leukemia (ALL) with isolated central nervous system (CNS) relapse and a human leucocyte antigen (HLA)-matched sibling, the optimal treatment after attaining second remission is unknown. We compared outcomes in 149 patients enrolled on chemotherapy trials and 60 HLA-matched sibling transplants, treated in 1990-2000. All patients achieved a second complete remission. Groups were similar, except the chemotherapy recipients were younger at diagnosis, less likely to have T-cell ALL and had longer duration (> or = 18 months) first remission. To adjust for time-to-transplant bias, left-truncated Cox's regression models were constructed. Relapse rates were similar after chemotherapy and transplantation. In both treatment groups, relapse rates were higher in older children (11-17 years; RR 2.81, P=0.002) and shorter first remission (< 18 months; RR 3.89, P<0.001). Treatment-related mortality rates were higher after transplantation (RR 4.28, P=0.001). The 8-year probabilities of leukemia-free survival adjusted for age and duration of first remission were similar after chemotherapy with irradiation and transplantation (66 and 58%, respectively). In the absence of an advantage for one treatment option over another, the data support use of either intensive chemotherapy with irradiation or HLA-matched sibling transplantation with total body irradiation containing conditioning regimen for children with ALL in second remission after an isolated CNS relapse.

Flood risk mapping at European scale.

The aim of this article is to illustrate a framework for flood risk mapping at pan-European scale produced by the Weather-Driven Natural Hazards (WDNH) action of the EC-JRC-IES. Early results are presented in the form of flood risk index maps. We assess several flood risk factors that contribute to the occurrence of flood disasters. Among the causal factors of a flood disaster one is triggering a natural event in the form of extreme precipitation and consequently extreme river discharge and extreme flood water levels. The threatening natural event represents the hazard component in our assessment. Furthermore exposure and vulnerability are anthropogenic factors that contribute also to flood risk. In the proposed approach, flood risk is considered on the light of exposure, vulnerability and hazard. We use a methodology with a marked territorial approach for the assessment of the flood risk. Hence, based on mathematical calculations, risk is the product of hazard, exposure and vulnerability. Improvements on datasets availability and spatial scale are foreseen in the next phases of this study. This study is also a contribution to the discussion about the need for communication tools between the natural hazard scientific community and the political and decision making players in this field.

Guía para el diagnóstico y tratamiento de la enuresis nocturna monosintomática en Atención Primaria / Guide for the diagnosis and treatment of monosymptomatic nighttime enuresis in Primary Health Care

La enuresis nocturna monosintomática es una entidad nosológica benigna, muy frecuente en la infancia, que puede favorecer la aparición de importantes problemas psicológicos y de autoestima a medida que se va incrementando la edad de los niños que no corrigen su problema. En la presente Guía se repasan los criterios diagnósticos, los exámenes complementarios que se recomiendan inicialmente y los tratamientos disponibles en la actualidad. Al tratarse de un proceso benigno, el tratamiento de la enuresis debe realizarse con medios terapéuticos eficaces y con una baja tasa de efectos secundarios potenciales. Se recomienda iniciar el tratamiento con desmopresina o con alarmas sonoras. La ausencia de eficacia de uno de los dos remedios o de ambos debe ser criterio de remisión de los jóvenes pacientes a un centro especializado (AU)

The Monosyptomatic nocturnal enuresis is a benign entity very frequent in childhood that can trigger the appearance of important psychological problems and of selfesteem, especially, when the children do not correct this problem grow older. In the present paper we review the diagnostic criteria, the complementary exams initially recommended and the current available treatments. Being a benign process, the nocturnal enuresis treatment should be carried out with effective therapeutic means and with a low rate of potentials secondary effects. The treatment should begin with desmopressin or with sound alarms. The lack of effectiveness of either or both remedies should be a criterion for remission of the patient to a specialized Center (AU)

Blakeslea trispora genes for carotene biosynthesis.

We cloned the carB and carRA genes involved in beta-carotene biosynthesis from overproducing and wild-type strains of Blakeslea trispora. The carB gene has a length of 1,955 bp, including two introns of 141 and 68 bp, and encodes a protein of 66.4 kDa with phytoene dehydrogenase activity. The carRA gene contains 1,894 bp, with a single intron of 70 bp, and encodes a protein of 69.6 kDa with separate domains for lycopene cyclase and phytoene synthase. The estimated transcript sizes for carB and carRA were 1.8 and 1.9 kb, respectively. CarB from the beta-carotene-overproducing strain B. trispora F-744 had an S528R mutation and a TAG instead of a TAA stop codon. The overproducing strain also had a P143S mutation in CarRA. Both B. trispora genes could complement mutations in orthologous genes in Mucor circinelloides and could be used to construct transformed strains of M. circinelloides that produced higher levels of beta-carotene than did the nontransformed parent. The results show that these genes are conserved across the zygomycetes and that the B. trispora carB and carRA genes are functional and potentially useable to increase carotenoid production.

Biotechnological lycopene production by mated fermentation of Blakeslea trispora.

A semi-industrial process (800-l fermentor) for lycopene production by mated fermentation of Blakeslea trispora plus (+) and minus (-) strains has been developed. The culture medium was designed at the flask scale, using a program based on a genetic algorithm; and a fermentation process by means of this medium was developed. Fermentation involves separate vegetative phases for (+) and (-) strains and inoculation of the production medium with a mix of both together. Feeding with imidazole or pyridine, molecules known to inhibit lycopene cyclase enzymatic activity, enhanced lycopene accumulation. Different raw materials and physical parameters, including dissolved oxygen, stirring speed, air flow rate, temperature, and pH, were checked in the fermentor to get maximum lycopene production. Typical data for the fermentation process are presented and discussed. This technology can be easily scaled-up to an industrial application for the production of this carotenoid nowadays widely in demand.

[Treatment of bladder instability (non-neurogenic hyperactive bladder) in children, with tolterodine]. / Tratamiento de la inestabilidad vesical (vejiga hiperactiva no neurógena) en niños, con Tolterodina.

INTRODUCTION: Overactive bladder (OB) is one of the no-neurogenic voiding dysfunctions whose prevalence has been precisely defined among the general population but not so among the paediatric population. Its clinical manifestations are various, and its association with other pathologies like enuresis, vesico-ureteral reflux (VUR) and recurrent infections is particularly significant in children. OB is basically managed with anticholinergic drugs. The efficacy of oxybutynin chloride has been sufficiently proved; however its dosage and side effects, although scarce in children, usually cause treatment discontinuation. OBJECTIVES: Tolterodine has been successfully used as an alternative therapy of OB in adults, however its use has not been sufficiently evaluated in children. Our objective is to determine tolterodine's efficacy and tolerability in the paediatric population suffering from OB. MATERIAL AND METHODS: A retrospective study of 72 children who were diagnosed no-neurogenic OB and who received no previous treatment. A concomitant urological pathology diagnostic protocol was applied to all cases, as well as a urodynamic test (UDT) and a neurological examination. Post-treatment UDT was performed to one group of patients. RESULTS: The mean age was 10.9 years and the children were assessed between 4 and 31 months after treatment initiation. Healing was proved through cistomanometry in 67% of the cases, there was improvement in 14% and 19% of the patients showed no changes in the UDT. Following the criteria of the International Children's Continence Society (ICCS) applied to those children with no post-treatment UDT, 51% were healed, 27% improved and 22% experienced no changes. None of the patients had to discontinue the treatment due to side effects. CONCLUSIONS: Tolterodine's tolerability and efficacy are good within the paediatric population, which turns it into an alternative to the traditional anticholinergics for the treatment of OB.

Presente y futuro de la urología pediátrica / Present and future of pediatric urology

No disponible

[Congenital renal abnormalities in neonates with fetal vesicoureteral reflux. Detection by 99m-technetium(m)-dimercaptosuccinic acid renal scintigraphy]. / Anomalías renales congénitas en neonatos con reflujo vesicoureteral fetal. Detección con gammagrafía renal-99mTc-DMSA.

BACKGROUND: "Fetal" vesicoureteral reflux (VUR) is characterized by predominance among males, high grade reflux and renal parenchymal abnormalities, indicating an association between sterile VUR and kidney lesions. OBJECTIVES: To determine, using technetium99m-dimercaptosuccinic acid (99mTc-DMSA) renal scan, the incidence of congenital renal abnormalities in infants with sterile VUR detected during the postnatal evaluation of prenatal hydronephrosis or sibling reflux screening and to speculate on the mechanisms of these lesions. METHODS: We retrospectively reviewed the DMSA renal scans of infants with VUR without a history of urinary tract infection (UTI). DMSA differential uptake less than or equal to 40% or cortical defects were considered as renal abnormalities. The findings were correlated with those of postnatal renal ultrasonography. RESULTS: Eighteen patients (15 boys and 3 girls) were included with VUR grade V, IV, III and II in 5, 10, 6 and 6, respectively, of the 36 renal units. DMSA revealed parenchymal abnormalities in 50% (9/18) of the patients and in 33% (9/27) of the renal units with VUR; most of the patients were boys (7 boys, 2 girls) with VUR grade V or IV (6/9; 66%). Postnatal ultrasonography showed low sensitivity (22%) to renal injury. CONCLUSIONS: In infants with sterile VUR, especially boys with high grade VUR, kidney abnormalities can already be present at birth suggesting a pathophysiology of renal injury independent of UTI. Moreover, renal parenchymal defects detected by DMSA renal scan are frequently not identified by postnatal renal ultrasound. Therefore, we recommend DMSA scanning in the initial evaluation of infants with VUR.

Anomalías renales congénitas en neonatos con reflujo vesicoureteral fetal. Detección con gammagrafía renal-99mTc-DMSA / Congenital renal abnormalities in neonates with fetal vesicoureteral reflux. Detection by 99M-technetiumM-Dimercaptosuccinic acid renal scintigraphy

Antecedentes: El reflujo vesicoureteral (RVU) "fetal" se caracteriza por una preponderancia masculina, reflujo de alto grado y anomalías parenquimatosas renales, estableciéndose una asociación entre RVU estéril y lesión renal. Objetivos Determinar, mediante gammagrafía renal con 99m tecnecio ácido dimercapto-succínico (99mTc-DMSA), la incidencia de anomalías renales congénitas en lactantes con RVU detectado posnatalmente por hidronefrosis prenatal o por cribado familiar, y especular sobre los mecanismos de acción de estas lesiones. Métodos: Se han revisado retrospectivamente las gammagrafías renales de lactantes con RVU y sin antecedentes de infección del tracto urinario (ITU), considerando anomalías renales: captación diferencial menor o igual al 40 por ciento o presencia de defectos corticales. Los hallazgos gammagráficos se han correlacionado con los de la ecografía posnatal. Resultados: Dieciocho pacientes cumplieron los criterios de inclusión; 15 niños y 3 niñas con RVU grado V, IV, III y II en 5, 10, 6 y 6 de las 36 unidades renales. La gammagrafía mostró alteraciones parenquimatosas en el 50 por ciento (9/18) de los pacientes y el 33 por ciento (9/27) de las unidades renales refluyentes; la mayoría fueron niños (7 niños, 2 niñas) con RVU de GV o GIV (6/9; 66 por ciento). La sensibilidad de la ecografía posnatal para detectar signos de lesión renal fue baja (22 por ciento). Conclusiones: Lactantes con RVU estéril, especialmente varones con RVU de alto grado, pueden presentar ya al nacimiento anomalías parenquimatosas renales, lo cual sugiere una etiopatogenia congénita de lesión renal independiente de la ITU. Estos defectos identificados por gammagrafía con frecuencia no son detectados en la ecografía posnatal. Por ambos motivos recomendamos la gammagrafía renal DMSA en la evaluación inicial de lactantes con RVU fetal (AU)

[Role of direct radionuclide cystography and renal study by dimercaptosuccinic acid (DMSA) in the diagnosis and follow-up of vesicoureteral reflux]. / La cistografía isotópica directa y la gammagrafía renal con ácido dimercaptosuccínico (DMSA) en el diagnóstico y seguimiento del reflujo vesicoureteral.

AIM: To evaluate the role of isotopic studies in the diagnosis and follow-up of vesicoureteral reflux (VUR) and to present the results of our current protocol. MATERIAL AND METHODS: Forty three patients with VUR were retrospectively studied with a mean follow-up of 43 years (1-11 years). VUR was diagnosed by voiding cystourethrography and followed-up by direct radionuclide cystography. During the follow-up all patients were studied by means of renal DMSA scintigraphy (21 were also studied during the acute phase of febrile urinary tract infection). RESULTS: Eighty three renal units were examined. Voiding cystourethrography was positive for VUR in 49 renal units (59%; 8 grade I, 18 grade II, 15 grade III, and 8 grade IV). During the follow-up, direct radionuclide cystography showed decrease or disappearance of VUR in 29 renal units (35%; 4 grade I, 16 grade II, 7 grade III, and 2 grade IV). DMSA studies performed during the follow-up showed cortical lesions in 17 renal units (5 with VUR grade II, 7 with grade III, and 5 grade IV). Nine of 21 patients examined by DMSA during the acute phase of febrile urinary tract infection showed cortical damage (43%), and 6 of them (67%) progressed to cortical lesion in the follow-up DMSA. CONCLUSIONS: The present protocol allows for the correct diagnosis and control of VUR, the early detection of acute renal damage, and the control of its evolution.