Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia.

Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the heritability of obsessive-compulsive disorder (OCD). Co-ocurrence of OCD and schizophrenia is commoner than expected based on their respective prevalences, complicating the clinical management of patients. This study addresses two main objectives: to identify particular genes associated with OCD by SNP-based and gene-based tests; and to test the existence of a polygenic risk shared with schizophrenia. The primary analysis was an exon-focused genome-wide association study of 370 OCD cases and 443 controls from Spain. A polygenic risk model based on the Psychiatric Genetics Consortium schizophrenia data set (PGC-SCZ2) was tested in our OCD data. A polygenic risk model based on our OCD data was tested on previous data of schizophrenia from our group. The most significant association at the gene-based test was found at DNM3 (P=7.9 × 10(-5)), a gene involved in synaptic vesicle endocytosis. The polygenic risk model from PGC-SCZ2 data was strongly associated with disease status in our OCD sample, reaching its most significant value after removal of the major histocompatibility complex region (lowest P=2.3 × 10(-6), explaining 3.7% of the variance). The shared polygenic risk was confirmed in our schizophrenia data. In conclusion, DNM3 may be involved in risk to OCD. The shared polygenic risk between schizophrenia and OCD may be partially responsible for the frequent comorbidity of both disorders, explaining epidemiological data on cross-disorder risk. This common etiology may have clinical implications.

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing in 604 schizophrenia proband-parent trios to investigate the role of recessive (homozygous or compound heterozygous) nonsynonymous genotypes in the disorder. The burden of recessive genotypes was not significantly increased in probands at either a genome-wide level or in any individual gene after adjustment for multiple testing. At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF ⩽ 1%) in voltage-gated sodium channels (VGSCs; eight in probands and none in parents, P = 1.5 × 10(-)(4)). Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽ 0.1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P = 0.018) and de novo mutations (P = 0.04). However, we were unable to replicate the specific association with compound heterozygosity at VGSCs in an independent sample of Taiwanese schizophrenia trios (N = 614). We conclude that recessive genotypes do not appear to make a substantial contribution to schizophrenia at a genome-wide level. Although multiple lines of evidence, including several from this study, suggest that rare mutations in VGSCs contribute to the disorder, in the absence of replication of the original findings regarding compound heterozygosity, this conclusion requires evaluation in a larger sample of trios.

Respuesta al tratamiento con corticoides en un caso de angiopatía amiloide inflamatoria sin realización de biopsia / Response to treatment with corticoids in a case of inflammatory amyloid angiopathy without performing a biopsy

Introducción. La angiopatía amiloide inflamatoria (AAI) es una forma de presentación infrecuente de la angiopatía amiloide cerebral recientemente reconocida y cuyo diagnóstico definitivo es anatomopatológico. Objetivo. Se presenta un paciente con AAI con buena respuesta clínica, neuropsicológica y de neuroimagen al tratamiento con corticoides y en el que no se consideró necesario practicar biopsia cerebral. Caso clínico. Varón de 68 años con diagnóstico de enfermedad de Alzheimer que sufrió una crisis convulsiva generalizada seguida de trastorno del lenguaje y hemiparesia derecha. La resonancia magnética mostró una lesión de comportamiento infiltrante hemisférica izquierda y múltiples microsangrados. La clínica y radiología fueron sugestivas de AAI y se instauró tratamiento corticoideo. La neuroimagen y los tests neuropsicológicos mostraron una notable mejoría a los 30 días del inicio del tratamiento inmunosupresor. El genotipo fue ApoE ε4/ε4. Se desestimó la realización de biopsia cerebral. Conclusiones. El caso descrito sugiere la posibilidad de, en casos individualizados con clínica y radiología características de AAI, instaurar tratamiento empírico con corticoides con diagnóstico de probabilidad y realizar biopsia cerebral en caso de que no haya respuesta al tratamiento (AU)

Introduction. Inflammatory amyloid angiopathy (IAA) is an infrequent presenting symptom of the recently recognised cerebral amyloid angiopathy and its definitive diagnosis is reached by means of pathological analyses. Aim. We report the case of a male patient with IAA and good clinical, neuropsychological and neuroimaging response to treatment with corticoids; a biopsy of brain tissue was not considered necessary. Case report. The patient, 68 years old and diagnosed with Alzheimer’s disease, suffered from generalised seizures followed by a language disorder and hemiparesis of the right-hand side. A magnetic resonance imaging scan showed a lesion displaying infiltrating behaviour in the left hemisphere and multiple instances of microbleeding. Clinical and radiological features suggested IAA and treatment was established with corticoids. Neuroimaging and neuropsychological tests revealed a notable improvement at 30 days after beginning treatment with immunosuppressants. The genotype was ApoE ε4/ε4. The need to perform a biopsy of brain tissue was ruled out. Conclusions. The case described here suggests that, in individualised cases with clinical and radiological features that are characteristic of IAA, it may be possible to establish an empirical treatment with corticoids with a probability diagnosis and perform a biopsy of brain tissue in the event of a lack of response to treatment (AU)

Endopielotomía endoscópica retrógrada con balón de corte frío (Cutting-BaloonTM): experiencia inicial en niños con estenosis pieloureteral / Cold-knife retrograde endoscopic endopyelotomy (cutting-balloontm) in children with ureteropelvic junction obstruction: early results

Objetivos. Presentar nuestra experiencia inicial en el uso del Cutting-Balloon TM en el tratamiento de estenosis pieloureterales (EPUs) resistentes o recidivadas tras una dilatación endourológica retrógrada con balón de alta presión (DERBAP). Material y métodos. Los pacientes con hidronefrosis progresiva y renograma obstructivo se trataron mediante DERBAP. En aquellos pacientes con EPU resistente (persistencia de la muesca tras la dilatación)o con EPU recidivada, se consideró el uso del Cutting-BalloonTM como alternativa a nuestro protocolo habitual (nueva DERBAP ocirugía abierta). Tras el procedimiento mantuvimos un tutor ureteral doble J durante 4-6 semanas. El seguimiento se realizó a los 3 meses de la retirada del tutor y, posteriormente, cada 6 meses, repitiendo ecografía y renograma. sultados. Entre 2008 y 2010 tratamos con Cutting-BalloonTM a 5 pacientes (4 varones, 1 mujer) con EPU (izquierda: 3, derecha: 1,bilateral: 1), con una edad media de 3 meses (rango: 10 días-7 meses).Cuatro casos tenían EPU resistente y 1 caso EPU recidivada. Tras el procedimiento y durante un seguimiento medio de 12 meses (rango:9-18 meses), ningún paciente requirió tratamiento adicional. Cuatro pacientes presentaron mejoría de la hidronefrosis y mantuvieron una función renal diferencial (FRD) normal. Un paciente (FRD inicial18%) no mejoró. No se registraron complicaciones asociadas a la intervención. Conclusiones. La endopielotomía retrógrada con Cutting-BalloonTM parece una opción terapéutica con buenos resultados en el tratamiento de EPUs resistentes o recidivadas tras una primera DERBAP. Creemos que son necesarios más estudios para confirmar estos Hallazgos (AU)

Background. To present our early experience in the use of Cutting-BalloonTM for the treatment of resistant or relapsed ureteropelvic junction obstruction (UPJO) after a prior endourological retrograde high-pressure balloon dilatation (RHPBD).Materials and methods. Patients with progressive hydronephrosis and impaired drainage of the renal pelvis on a diuretic renal scan were treated with RHPBD. In those patients with resistant UPJO (waist persistence after dilatation) or relapsed UPJO, we consider using a Cutting-BalloonTM as an alternative to our current protocol (second RHPBD or open surgery). A JJ stent was placed following the procedure, and removed at 4-6 weeks. Outcomes were evaluated 3 and 6 months afters tent removal, and every 6 months thereafter, repeating renal ultrasonography and diuretic renal scan. Results. Between 2008 and 2010 we treated with Cutting-balloonTM5 patients (4 male, 1 woman) with UPJO (left side: 3 cases, right side: 1case, bilateral: 1 case) with a mean age of 3 months (range, 10 days to 7months). Four cases had resistant UPJO and 1 case relapsed UPJO. After the procedure, and during the follow-up period of 12 months (range,9-18 months), no further treatment was necessary. Four patients had improvement of hydronephrosis, with normal relative renal function(RRF). One patient (RRF 18% before treatment) did not improve. No periprocedural complications occurred. Conclusions. Cutting-balloonTM retrograde endopyelotomy seems to be a treatment with encouraging early results for resistant and relapsed UPJO, after a prior RHPBD. We believe that further clinical evaluation is needed to confi rm these findings (AU)

Dispositivos intravasculares centrales de inserción subcutánea en el paciente oncológico pediátrico, ¿podemos minimizar su infección? / Subcutaneously inserted central intravascular devices in the pediatric oncology patient: can we minimize their infection

Los dispositivos intravasculares centrales de implantación subcutánea(DICIS) son utilizados frecuentemente en pacientes pediátricos. Su principal complicación es la infección, que puede requerir su retirada. El objetivo de nuestro trabajo es estudiar los factores de riesgo relacionados con su infección y retirada. Estudio retrospectivo de 120 pacientes oncológicos en los que se implantó un DICIS entre los años 2003-2009. Estudiamos factores epidemiológicos, quirúrgicos, clínicos y microbiológicos. Realizamos un análisis comparativo entre: grupo A, pacientes que presentaron infección, grupo B, el resto. El grupo A se dividió en subgrupos: infección precoz(primer mes postimplantación)/tardía, retirados/no retirados. Los datos fueron analizados mediante el programa estadístico SPSS. De 120 niños, 29 sufrían leucemia,19 linfoma y 72 tumor sólido. Un31% presentaron infección (grupo A), siendo precoz en un 36%. Un 16%de los dispositivos infectados requirió retirada. Analizando los factores relacionados con la infección se encontró diferencia estadísticamente significativa en la edad (p=0,015) y en el hecho de recibir quimioterapia previa a la implantación (p=0,034). El resto de parámetros analizados no arrojaron resultados significativos, si bien es cierto que se observó una tendencia a ésta en los pacientes con diagnóstico de leucemia, en los portadores de vía subclavia, en los que el dispositivo se colocó através de una guía sobre una vía central previa y en los trasplantados. En (..) (AU)

Long-term indwelling central venous access devices are frequently used in pediatric patients. Their main complication is infection, that can even mean their removal. We try to identify the risk factors really involved in this complication and in their removal. We have made a retrospective review of 120 oncologic pediatric patients who received a central venous device between 2003 and 2009. We searched for epidemiologic, clinic, microbiologic and surgical risk factors. We made a comparative data analysis among: GROUP A, children who suffered device infection, GROUP B the others. Group A was divided into early infection (first month after implantation) / late infection, removed /not removed. Data were analized with statistical program SPSS.29 suffered from leukemia, 19 from lymphoma and the main part,72, from solid tumour. 31% experienced infection (GROUP A), being early in the 36% of them. 16% had to be withdrawn. Data analysis revealed statistical association with the age (p=0.015) and with the reception of chemiotherapic treatment the week before the surgical insertion. The rest of the studied factors did not revealed a real association, but (..)(AU)

Papel del drenaje peritoneal en la enterocolitis necrotizante de prematuros críticos de bajo peso / Role of peritoneal drainage in necrotizing enterocolitis in critical infants with extremely low birth weight

Introducción. El drenaje peritoneal es una de las opciones de tratamiento en la enterocolitis necrotizante (ECN). Actualmente es muy controvertido su papel como alternativa a la laparotomía en neonatos de bajo peso, y la mortalidad asociada a ambos procedimientos es elevada(35-55%).Material y métodos. Revisamos a 30 prematuros de bajo peso extremo (< 1.000 g) con ECN tratados quirúrgicamente. Evaluamosla situación hemodinámica, respiratoria y metabólica de los pacientes, así como la afectación multiorgánica y la necesidad de inotrópicos. Se analizaron los datos previos a la intervención quirúrgica a las 6 y 12horas. Dividimos la muestra en dos grupos: aquellos a los que se realizó drenaje peritoneal (DP) o laparotomía de entrada (LAP).Resultados. En la serie la media de peso al nacimiento fue de 754± 156 g y la edad gestacional de 26,1 ± 2,1 semanas. Se realizaron 10drenajes peritoneales y 20 laparotomías. El grupo DP presentó previamente a la intervención mayor frecuencia cardiaca, FiO2 y acidosis (p< 0,05). Las necesidades de dopamina fueron similares en ambos grupos. Tras la realización del drenaje se (..) (AU)

Introduction. Peritoneal drainage is one of the options for treatment in necrotizing enterocolitis (NEC). Currently its role is controversial asan alternative to laparotomy in low birth weight and mortality associated with both procedures is high (35-55%).Material and methods. We reviewed 30 low-weight premature (<1,000 g) with NEC treated surgically. We evaluate the hemodynamic, respiratory and metabolic status of the patients, as well as multi-organinvolvement and the need for inotropic drugs. These data were analyzed previos to surgery and at 6 and 12 hours. We divided the sample into two groups: those who underwent peritoneal drainage (PD) input orlaparotomy (LAP).Results. In the series the average birth weight was 754 ± 156 g and gestational age was 26.1 ± 2.1 weeks. We carry on 10 peritoneal drainage and 20 laparotomies. The DP group before the intervention showed (..) (AU)

Fimosis: ¿prepucioplastia o circuncisión? / Phimosis: ¿dorsal slit or circumcision?

Objetivos. La fimosis es una de las patologías más frecuentes en la consulta del cirujano pediátrico. El propósito de este estudio es compararlas dos opciones quirúrgicas más extendidas en nuestro medio: prepucioplastia y circuncisión. Material y métodos. Estudio retrospectivo de 1.698 pacientes tratados quirúrgicamente en nuestro servicio por presentar fimosis desde2003 a 2009. Se analizan edad, tiempo quirúrgico y anestésico, técnicaquirúrgica y complicaciones. Se realiza un estudio transversal descriptivo mediante encuesta telefónica a padres y pacientes mayores de16 años en cuanto a dolor postoperatorio, satisfacción estética y funcional .Se considera estadísticamente significativo p<0,05.Resultados. En un 76,6% de los casos (n=1.300) se realizó prepucioplastiay en el otro 23,4% (n= 398) circuncisión. La media de edad fue de 7,15 y la media de seguimiento 42,3 meses. El tiempo quirúrgico fue significativamente mayor en la circuncisión (p<0,0001). Huboun 3% (n= 51) de reintervenciones, sin diferencias entre los grupos. Tampoco encontramos diferencias estadísticamente significativas en cuanto a la reestenosis postoperatoria, aunque la incidencia de sangradosí fue mayor en la circuncisión (1,7%; p=0,03). No encontramos diferencias significativas en cuanto a la apreciación paterna del dolor postoperatorio o la satisfacción estética y funcional entre las dos técnicasquirúrgicas. Conclusiones. No hallamos diferencias en cuanto a la satisfacción subjetiva entre grupos. Aunque sí existen diferencias a nivel de sangrado postoperatorio, la incidencia global es muy baja. En nuestra experiencia ambas técnicas son válidas y seguras, por lo que la elección debe quedar a criterio del cirujano y de los padres (AU)

Introduction. Phimosis is perhaps one of the most frequent consultation on pediatric surgery clinics throught the world. The aim of this study is to compare the two procedures more frequently performed in our hospital: dorsal slit and circumcision. Patients y methods: Retrospective study of 1698 patients who were admitted for elective surgical treatment of phimosis between 2003 and2009. We analyzed age, surgical and anesthethic times, surgical technique and complications. We also did transversal descriptive study through telephonic survey on parents and patients older than 16 years old. Results: There was 76.6% of dorsal slit (n=1300) and 23.4% (n=398) of circumcisions. Mean age was 7.15 years y mean time of follow up was 42.3 months. Surgical time was significantly higher in circumcision(p<0.0001). There were 3% (n= 51) of reoperations, no differences between groups. We didn’t find differences in postoperative stenosis, but bleeding was more frequent in circumcision group (1.7%;p=0.03). There were no differences on parental appreciation of postoperative pain, or functional and esthetic satisfaction between groups. Conclusions: We didn’t find differences on subjective satisfaction between groups. Even if there are differences n postoperative bleeding, global incidence is very low. In our experience both techniques are validand safe, so surgeon and parents must jointly make the decisión (AU)

[Cold-knife retrograde endoscopic endopyelotomy (Cutting-Balloon) in children with ureteropelvic junction obstruction: early results]. / Endopielotomía endoscópica retrógrada con balón de corte frío (Cutting-Baloon): experiencia inicial en niños con estenosis pieloureteral.

BACKGROUND: To present our early experience in the use of Cutting-Balloon for the treatment of resistant or relapsed ureteropelvic junction obstruction (UPJO) after a prior endourological retrograde high-pressure balloon dilatation (RHPBD). MATERIALS AND METHODS: Patients with progressive hydronephrosis and impaired drainage of the renal pelvis on a diuretic renal scan were treated with RHPBD. In those patients with resistant UPJO (waist persistence after dilatation) or relapsed UPJO, we consider using a Cutting-Balloon as an alternative to our current protocol (second RHPBD or open surgery). A JJ stent was placed following the procedure, and removed at 4-6 weeks. Outcomes were evaluated 3 and 6 months after stent removal, and every 6 months thereafter, repeating renal ultrasonography and diuretic renal scan. RESULTS: Between 2008 and 2010 we treated with Cutting-balloon 5 patients (4 male, 1 woman) with UPJO (left side: 3 cases, right side: 1 case, bilateral: 1 case) with a mean age of 3 months (range, 10 days to 7 months). Four cases had resistant UPJO and 1 case relapsed UPJO. After the procedure, and during the follow-up period of 12 months (range, 9-18 months), no further treatment was necessary. Four patients had improvement of hydronephrosis, with normal relative renal function (RRF). One patient (RRF 18% before treatment) did not improve. No periprocedural complications occurred. CONCLUSIONS: Cutting-balloon retrograde endopyelotomy seems to be a treatment with encouraging early results for resistant and relapsed UPJO, after a prior RHPBD. We believe that further clinical evaluation is needed to confirm these findings.

[Subcutaneously inserted central intravascular devices in the pediatric oncology patient: can we minimize their infection]. / Dispositivos intravasculares centrales de inserción subcutánea en el paciente oncológico pediátrico, ¿podemos minimizar su infección?

Long-term indwelling central venous access devices are frequently used in pediatric patients. Their main complication is infection, that can even mean their removal. We try to identify the risk factors really involved in this complication and in their removal. We have made a retrospective review of 120 oncologic pediatric patients who received a central venous device between 2003 and 2009. We searched for epidemiologic, clinic, microbiologic and surgical risk factors. We made a comparative data analysis among: GROUP A, children who suffered device infection, GROUP B the others. Group A was divided into early infection (first month after implantation)/late infection, removed/not removed. Data were analized with statistical program SPSS. 29 suffered from leukemia, 19 from lymphoma and the main part, 72, from solid tumour. 31% experienced infection (GROUP A), being early in the 36% of them. 16% had to be withdrawn. Data analysis revealed statistical association with the age (p=0.015) and with the reception of chemiotherapic treatment the week before the surgical insertion. The rest of the studied factors did not revealed a real association, but could be guess a relationship among infection and leukemia, subclavian catheters, those patients whose deviced was introduced using a guide over a previous catheter and also transplanted. Related to early infection the only associateon founded was with the subclavian access (p=0.018). In conclusion, in our serie long-term central venous access infection was more frequent in the younger patients and also in those who had received chemotherapy the week before the catheter implantation. The tendency towards infection in leukemia, transplanted and subclavian carriers has to be studied in a prospective way with a larger number of oncologic children.

[Phimosis: dorsal slit or circumcision?]. / Fimosis: prepucioplastia o circuncisión?

INTRODUCTION: Phimosis is perhaps one of the most frequent consultation on pediatric surgery clinics throught the world. The aim of this study is to compare the two procedures more frequently performed in our hospital: dorsal slit and circumcision. PATIENTS Y METHODS: Retrospective study of 1698 patients who were admitted for elective surgical treatment of phimosis between 2003 and 2009. We analyzed age, surgical and anesthethic times, surgical technique and complications. We also did transversal descriptive study through telephonic survey on parents and patients older than 16 years old. RESULTS: There was 76.6% of dorsal slit (n = 1300) and 23.4% (n= 398) of circumcisions. Mean age was 7.15 years y mean time of follow up was 42.3 months. Surgical time was significantly higher in circumcision (p < 0.0001). There were 3% (n = 51) of reoperations, no differences between groups. We didn't find differences in postoperative stenosis, but bleeding was more frequent in circumcision group (1.7%; p = 0.03). There were no differences on parental appreciation of postoperative pain, or functional and esthetic satisfaction between groups. CONCLUSIONS: We didn't find differences on subjective satisfaction between groups. Even if there are differences n postoperative bleeding, global incidence is very low. In our experience both techniques are valid and safe, so surgeon and parents must jointly make the decision.

[Role of peritoneal drainage in necrotizing enterocolitis in critical infants with extremely low birth weight]. / Papel del drenaje peritoneal en la enterocolitis necrotizante de prematuros críticos de bajo peso.

INTRODUCTION: Peritoneal drainage is one of the options for treatment in necrotizing enterocolitis (NEC). Currently its role is controversial as an alternative to laparotomy in low birthweight and mortality associated with both procedures is high (35-55%). MATERIAL AND METHODS: We reviewed 30 low-weight premature (< 1000 g) with NEC treated surgically. We evaluate the hemodynamic, respiratory and metabolic status of the patients, as well as multi-organ involvement and the need for inotropic drugs. These data were analyzed previos to surgery and at 6 and 12 hours. We divided the sample into two groups: those who underwent peritoneal drainage (PD) input or laparotomy (LAP). RESULTS: In the series the average birth weight was 754 +/- 156 g and gestational age was 26.1 +/- 2.1 weeks. We carry on 10 peritoneal drainage and 20 laparotomies. The DP group before the intervention showed increased heart rate, FiO2 and acidosis (p < 0.05). The needs of dopamine were similar in both groups. Following the peritoneal drainage, we found breathing improvement (adequate ventilation and oxygenation, decreased FiO2) and hemodynamic improvement (blood pressure maintained, reduced heart rate, reduced requirements for dopamine) at 6 and 12 h. DP was not the definitive treatment in any of the patiens, and all survivors (80%) of this group required further laparotomy. 62% of them died. Overall mortality was 47% (70% DP and 35% LAP, p = 0.07). CONCLUSIONS: Peritoneal drainage allowed the stabilization of low-weight premature in critical condition. The hemodynamic and respiratory stabilization was transient and did not prevent the definitive surgical treatment, although it improved the conditions for doing so. In our series, the peritoneal drainage did not improve long-term survival, questioning its role as an alternative to surgery for NEC.

Gastrostomía percutánea: ¿cuándo asociar cirugía antirreflujo? / Percutaneous gastrostomy: when should antireflux surgery be associated?

Introducción. La gastrostomía percutánea es un procedimiento ampliamente realizado en niños con dificultad para la deglución o intolerancia a la alimentación oral. A la hora de realizar la indicación, con frecuencia se plantea la necesidad de una cirugía antirreflejo en el mismo procedimiento. El objeto de este estudio es analizar qué factores preoperatorios se relacionan con un riesgo mayor de precisar posteriormente una funduplicatura. Material y métodos. Estudio retrospectivo de casos y controles de67 pacientes a los que se ha realizado gastrostomía endoscópica percutánea (PEG) por nuestro servicio desde 1997 a 2008. Comparamos dos grupos: Grupo A (n=11), pacientes con reflujo grave tras la realización de PEG, que han precisado cirugía antirreflujo; grupo B (n=56), pacientes que permanecen sin reflujo tras la gastrostomía. Analizamos los distintos factores preoperatorios que podrían relacionarse con la aparición de RGE grave postgastrostomía. Resultados. La media de edad en el momento de la realización de la PEG fue de 15,7 meses (rango), y el tiempo medio de seguimiento 3,5 años. Solo la presencia de enfermedad neurológica y pruebas preoperatorias compatibles con RGE se (..) (AU)

Introduction. Percutaneus gastrostomy placement is a procedure widely performed in children with failure to thrive or intolerance to oral feeding. At the moment of making the indication, the need of an antirreflux surgery in the same procedure comes to question. The aim of this study was to analyse which preoperative factors are associated with a higher risk of a posterior fundoplication. Material and Methods. We realized a retrospective review of 67patients divided in 2 groups (cases and controls) in which a percutaneous gastrostomy (PEG) had been made by our service in the period of 1997 (..) (AU)

Estenosis hipertrófica de píloro: comparación entre la incisión transversa y la supraumbilical / Hypertrophic pyloric stenosis: comparison between transversal and supraumbilical incision

Objetivo. El tratamiento de la estenosis hipertrófica de píloro es lapiloromiotomía extramucosa. El abordaje quirúrgico aún genera controversia. Nuestro objetivo es comparar los resultados de los abordajes transverso en hipocondrio derecho (THD) y supraumbilical (SUP)en nuestra experiencia. Material y métodos. Estudio descriptivo retrospectivo de 56 pacientes con EHP, 38 THD (70%), 18 SUP (30%), tratados en nuestro servicio entre 2003 y 2007. Analizamos los datos demográficos, pre, peri y postoperatorios. Agrupamos las complicaciones en mayores (perforación duodenal, piloromiotomía incompleta y evisceración) y menores(seroma, hematoma, infección de herida quirúrgica y hernia de pared).El análisis estadístico de los datos se ha realizado a través de pruebasparamétricas y no paramétricas. Resultados. En nuestros pacientes, el abordaje SUP ha asociado (..) (AU)

Background/purpose. The treatment of hypertrophic pyloric stenosis is the Fredet-Ramstedt pyloromyotomy. It is controversial what surgical approach to choose. We evaluate our outcome with the right upperquadrant (RUQ) and the supraumbilical (SU) approach. Methods. Between 2003 and 2007, we performed 38 pyloromyotomies through a RUQ incision and 18 through a SU approach. Weanalyze patient demographics and pre and postoperative data. We group the complications in major (duodenal perforation, inadequate pyloromyotomy, and wound dehiscence) and minor (seroma, hematoma, wound infection and incisional hernia). A nonrandomized comparison was performed between the two groups. Results. We find significant differences in morbidity: 22.2% of major complications ocurred in the SU group versus 2.6% in the RUQ group, and 44.4% of minor complications were encountered in the SU group versus 2.6% in the RUQ group (P < 0.005).Conclusions. In our study we found a significantly higher overall omplication rate in the SU group (p < 0.005), possibly because of a more difficult delivery of the pylorus through the SU incision and becauseof a probably increased rate of wound infection associated with thesupraumbilical approach in the pediatric population (AU)

[Percutaneous gastrostomy: when should antireflux surgery be associated?]. / Gastrostomía percutánea: ¿cuándo asociar cirugía antirreflujo?

INTRODUCTION: Percutaneus gastrostomy placement is a procedure widely performed in children with failure to thrive or intolerance to oral feeding. At the moment of making the indication, the need of an antir-reflux surgery in the same procedure comes to question. The aim of this study was to analyse which preoperative factors are associated with a higher risk of a posterior fundoplication. MATERIAL AND METHODS: We realized a retrospective review of 67 patients divided in 2 groups (cases and controls) in which a percutaneus gastrostomy (PEG) had been made by our service in the period of 1997 to 2008. We compared these two groups: Group A (n=11) - patients with severe gastroesophageal reflux who required a Nissen procedure afterwards; Group B (n=56) - patients who kept without reflux after PEG. We analyzed the different preoperative factors that could have been in association to severe reflux after gastrostomy. RESULTS: Mean age at the moment of undergoing PEG was 15 months. Mean time of follow up was 3,5 years. Only neurological impairment and documented reflux pregastrostomy were associated with the need of an antirreflux surgery after PEG. CONCLUSIONS: Neurological impairment and documented pregastrosotmy GER could be an indication of concurrent antirreflux surgery at the time of gastrostomy.

[Hypertrophic pyloric stenosis: comparison between transversal and supraumbilical incision]. / Estenosis hipertrófica de píloro: comparación entre la incisión transversa y la supraumbilical.

BACKGROUND/PURPOSE: The treatment of hypertrophic pyloric stenosis is the Fredet-Ramstedt pyloromyotomy. It is controversial what surgical approach to choose. We evaluate our outcome with the right upper quadrant (RUQ) and the supraumbilical (SU) approach. METHODS: Between 2003 and 2007, we performed 38 pyloromyotomies through a RUQ incision and 18 through a SU approach. We analyze patient demographics and pre and postoperative data. We group the complications in major (duodenal perforation, inadequate pyloromyotomy, and wound dehiscence) and minor (seroma, hematoma, wound infection and incisional hernia). A nonrandomized comparison was performed between the two groups. RESULTS: We find significant differences in morbidity: 22.2% of major complications ocurred in the SU group versus 2.6% in the RUQ group, and 44.4% of minor complications were encountered in the SU group versus 2.6% in the RUQ group (P < 0.005). CONCLUSIONS: In our study we found a significantly higher overall complication rate in the SU group (p < 0.005), possibly because of a more difficult delivery of the pylorus through the SU incision and because of a probably increased rate of wound infection associated with the supraumbilical approach in the pediatric population.

Resultados a largo plazo de pacientes con herniadiafragmática congénita / Long-term results of patients with congenital diaphragmatic hernia

Introducción. La introducción de avanzadas modalidades terapéuticas ha permitido alcanzar mejorías considerables en la supervivencia de la hernia diafragmática congénita (HDC). Sin embargo, existen pocos estudios que analicen la evolución clínica de los supervivientes a largo plazo. El objetivo de este trabajo es analizar la evolución a largo plazo de una serie de pacientes diagnosticados de HDC en nuestro hospital. Material y métodos. Entre 1998 y 2005 fueron tratados en nuestro centro 55 neonatos afectos de HDC. La supervivencia al alta hospitalaria fue del 72% (40 pacientes), siendo estos los incluidos en el estudio. En 6de ellos se requirió ECMO durante el tratamiento neonatal. Realizamos un estudio descriptivo transversal mediante revisión exhaustiva del historial clínico y encuesta telefónica a los padres, analizando las alteraciones respiratorias, cardiológicas, digestivas y el estado neurológico actual, utilizando para ello los métodos diagnósticos estándar en cada caso. La edad media de los niños en el momento del estudio es 4,2 años (1-9). Resultados. El 8,3% de los niños requirió oxigenoterapia domiciliaria, retirándose a los 3 meses en todos los casos. Ingresaron por problemas respiratorios el 22%, siendo la bronquiolitis y neumonía los diagnósticos más frecuentes. Solo un paciente padece asma de esfuerzo. El reflujo gastroesofágico es la patología más frecuente a largo plazo (47%), pero solo requiere tratamiento quirúrgico el 8,3%.En el ámbito cardiológico, el 14% padece hipertensión pulmonar, siendo leve-moderada en todos los casos excepto 1 niño que falleció (..) (AU)

Objective. Introduction of advanced therapeutic modalities fordiaphragmatic congenital hernia (CDH) has allowed to reach considerable improvements in survival rate. Nevertheless, there are few studies which analyze the clinical evolution of the long-term survivors. The aim of this work is to analyze the outcomes of the patients with CDH in our hospital. Methods. Fifty-five neonates with CDH were treated in our center between 1998 and 2005. We included in the study those patients that were alive at the moment of first hospital discharge (72%; n = 40patients). ECMO therapy was needed in 6 of them during neonatal treatment. A descriptive transverse review of the clinical record as well as a telephonic interview to the parents was performed for the respiratory, cardiological, digestive and neurological conditions, following standard diagnostic studies in every case. The mean age of the children in the moment of the study was 4.2 years (1-9).Results. The 8.3% of the children needed domiciliary oxygen therapy during a maximum of 3 months in all the cases. 22% of the cases suffered from respiratory problems, being bronchiolitis and pneumonia the most frequent diagnoses. Only a patient developed asthma. The gastroesophageal reflux is the most frequent long-term condition (47%),but only 8.3% needs surgical treatment. Regarding to cardiological problems, 14% developed pulmonary hypertension, being slight - moderate (..) (AU)

[Is it correct to use neonatal intensive care units as operating rooms?]. / Es adecuado utilizar las Unidades de Cuidados Intensivos Neonatales como sala de operaciones?

AIM: The neonatal intensive care unit (NICU) is used in many centres as operating room in order to avoid the co-morbidities that there produces the movement of critical patients. The motive of this work is to analyze the advantages and disadvantages of this type of surgical interventions. METHODOLOGY: Between January, 2004 and December, 2007 405 newborns were operated in the NICU. The most frequent surgical realized interventions were: deferred closing breastbone (172), placement of ECMO (42), ligation of patent ductus arteriosus (45), laparotomies for necrotising enterocolitis (27), repair of congenital diaphragmatic hernia (20), plicate of diaphragms (5) and closing of gastroschisis (4). We realize a retrospective study of a group of 40 patients operated by diaphragmatic hernia and necrotising enterocolitis in the UCIN (group A) and compare them with a group of patients operated in the operating room with the same pathology (group B). We study 22 variables preoperatory, intraoperatory and postoperatory. For the statistical analysis T-student and Chi-square was in use, being considered to be statistically significant p < 0.05. RESULTS: The average ages of the patients to the intervention were 11.1 +/- 8 days being the predominant sex the masculine one (60 %). The age gestational and the average weight for the group A was 31.9 +/- 5.7 weeks and 1,735 +/- 123 grams being for the group B of 34 +/- 3.5 weeks and 2,037 +/- 728 grams respectively (p = N.S.). 89.3% of the patients of the group A was with intubation orotracheal before the surgery, being 57.2% for the group B. The needs of high frequency ventilation and vasoactives drugs were higher for the group A (p < 0.01) and the operative time was similar in both groups (81 +/- 34 vs. 98 +/- 33 minutes). We find a difference of corporal temperature pre-post surgery of 0.60 +/- 0.48 degrees C for the group A and 2.18 +/- 0.93 degrees C in the B (p < 0.01). We don't estimate differences as for episodes of infection of wound, intraabdominal infection or need of reintervention. The survival of the patients was discreetly higher for the group operated in the operating room (82.3%) with regard to the group operated in the NICU (60%) without statistically significant differences existed. CONCLUSIONS: In our experience the NICU is a suitable place to realize surgical interventions in critical patients. The higher mortality for the group controlled in the UCIN explains for a major instability preoperatory. The maintenance of the corporal temperature avoiding the hypothermia it's one of the decisive factors to diminish the morbi-mortality.

[Characteristics of the anorectal atresia without fistula. Based on 12 cases]. / Peculiaridades de la atresia anorrectal sin fístula. A propósito de 12 casos.

INTRODUCTION: Imperforate anus without fistula is an uncommon anorectal malformation, in association to Down syndrome in 50% of cases. This anomaly is described as a lack of annus, with a blind rectal pouch, located about 2 cm above perineal skin, and sharing a common wall with the urethra or vagina. The aim of this work is to present our experience in this condition and to determine the differences between the diagnosis, treatment and long-term outcome of these patients in relation to other forms of anorectal malformation. MATERIALS AND METHODS: We reviewed the medical records of 12 patients treated in our department from 1998 to 2008. Eight were boys and 4 girls. Eleven of these patients had significant associated congenital diseases: Down syndrome (6), cardiovascular anomalies (6), urinary tract malformations (5), esophageal atresia (1). In all cases neonatal colostomy was performed, being 7 months (range between 1 and 19 months) the average age of the definitive surgery through posterior sagital approach. In one case a laparotomy was performed. The distance from the rectal pouch to the skin ranged from 1 to 5 cm, founding a very dilatated rectum in 4 patients. RESULTS: The postoperative outcome was favorable. Four patients required removal of a small anal prolapse. All patients older than 2 years (7) have urinary continence, while 5 of them have a significant constipation, resistant to treatment with diet and laxatives, requiring medical management with enemas. CONCLUSIONS: Our study confirms the high incidence of Down syndrome in patients with imperforate anus without fistula, and shows a higher incidence of other congenital comobidities. A colostrogram prior to definitive repair seems to be mandatory taking into account the intraopetative findings (height and diameter of rectal pouch). The incidence of anal prolapse is very high and may be related to the hypotonia present in patients with Down syndrome. Since the constipation is very severe in these patients, it should be controlled early in the follow up.

Peculiaridades de la atresia anorrectal sin fístula. A propósito de 12 casos / Characteristics of the anorectal atresia without fístula. Based on 12 cases

Introducción: El ano imperforado sin fístula es una forma infrecuente (5%) de malformación anorrectal, y el 50 % de estos pacientes presentan síndrome de Down. Esta malformación se describe como una ausencia de ano, con un bolsón rectal ciego, que termina a 2 cm de la piel, y que comparte pared común con la uretra o la vagina. El motivo de este trabajo es presentar nuestra experiencia en esta patología y determinar las diferencias en el diagnóstico, tratamiento y evolución a largo plazo de estos pacientes en relación a otras formas de malformación anorrectal. Material y métodos: Hemos revisado el historial clínico de 12pacientes tratados en nuestro Servicio desde 1998, siendo 8 niños y 4niñas. En 11 pacientes existían patologías congénitas asociadas importantes: síndrome de Down (6), cardiopatía congénita (6), malformaciones urológicas (5), atresia de esófago (1). En todos los casos se realizó colostomía neonatal, siendo 7 meses (rango entre 1 y 19 meses) la edad media de la cirugía definitiva mediante abordaje sagital posterior. En un caso hubo que asociar laparotomía. La distancia del bolsón rectal a la piel osciló desde 1 a 5 cm, estando el recto muy dilatado en 4pacientes.Resultados: La evolución postoperatoria fue favorable, requiriendo 4 pacientes extirpación de un pequeño prolapso anal. Todos los pacientes mayores de 2 años (7) tienen continencia urinaria, mientras (..) (AU)

Introduction: Imperforate anus without fistula is an uncommonanorectal malformation, in association to Down syndrome in 50% of cases. This anomaly is described as a lack of annus, with a blind rectal pouch, located about 2 cm above perineal skin, and sharing a common wall with the urethra or vagina. The aim of this work is to present our experience in this condition and to determine the differences between the diagnosis, treatment and long-term outcome of these patients in relation to other forms of anorectal malformation. Materials and methods: We reviewed the medical records of 12patients treated in our department from 1998 to 2008. Eight were boys and 4 girls. Eleven of these patients had significant associated congenital diseases: Down syndrome (6), cardiovascular anomalies (6), urinary tract malformations (5), esophageal atresia (1). In all cases neonatal colostomy was performed, being 7 months (range between 1 and 19months) the average age of the definitive surgery through posterior sagital approach. In one case a laparotomy was performed. The distance from the rectal pouch to the skin ranged from 1 to 5 cm, founding a very (..) (AU)