Differential accumulation of human ß-amyloid and tau from enriched extracts in neuronal and endothelial cells.

While Aß and Tau cellular distribution has been largely studied, the comparative internalization and subcellular accumulation of Tau and Aß isolated from human brain extracts in endothelial and neuronal cells has not yet been unveiled. We have previously demonstrated that controlled enrichment of Aß from human brain extracts constitutes a valuable tool to monitor cellular internalization in vitro and in vivo. Herein, we establish an alternative method to strongly enrich Aß and Tau aggregates from human AD brains, which has allowed us to study and compare the cellular internalization, distribution and toxicity of both proteins within brain barrier endothelial (bEnd.3) and neuronal (Neuro2A) cells. Our findings demonstrate the suitability of human enriched brain extracts to monitor the intracellular distribution of human Aß and Tau, which, once internalized, show dissimilar sorting to different organelles within the cell and differential toxicity, exhibiting higher toxic effects on neuronal cells than on endothelial cells. While tau is strongly concentrated preferentially in mitochondria, Aß is distributed predominantly within the endolysosomal system in endothelial cells, whereas the endoplasmic reticulum was its preferential location in neurons. Altogether, our findings display a picture of the interactions that human Aß and Tau might establish in these cells.

Are Spanish adolescents who actively commute to and from school more active in other domains? A spatiotemporal investigation.

We examined the association between mode of commuting to/from school (i.e., walking, multimodal, and motorized-vehicle) and movement behaviours in several space-time domains (i.e., total day, home, school, transport, and other locations). Walking to and/or from school was associated with higher MVPA in all space-time domains except home, where no associations were found. After subtracting commuting time to/from school from total day domain, the associations in favour of walking to/from school were maintained compared to those using other commuting modes, and in transport domain these associations dissipated. The study suggests the importance of promoting walking to/from school for increasing MVPA levels.

What urethrogram sees and a surgeon does not. / Lo que una uretrografía ve y un cirujano no.

INTRODUCTION: Urethrorrhagia is an infrequent sign in childhood. It should be distinguished from hematuria, since they have a different etiology. CLINICAL CASE: 11-year-old male patient with significant urethrorrhagia. Urinary sediment analysis: red blood cells++. Pelvic ultrasonography: fusiform anechoic image in the corpus spongiosum of the penile root. Retrograde urethrogram: normal anterior urethra, extraluminal contrast passage in the ventral aspect of the bulbar urethra. Cystoscopy: no pathological findings in the urethra or the bladder. Control retrograde urethrogram: cystic dilatation of Cowper's gland duct; Maizels' type 3 perforated syringocele. DISCUSSION: Cowper's syringocele is a rare pathology. It can occur at any stage of childhood in the form of urinary infection, obstructive voiding symptoms, or urethrorrhagia. Urethrogram is key for diagnostic purposes, since most Cowper's syringoceles are detected following urethrogram or cystoscopy. Cases with functional repercussions for the urinary system require surgical treatment. Otherwise, a wait-and-see approach is feasible.

INTRODUCCION: La uretrorragia es un signo infrecuente en la infancia que debe distinguirse de la hematuria dada la diferente etiología de las mismas. CASO CLINICO: Varón de 11 años con uretrorragia franca. Sedimento urinario: hematíes++. Ecografía pélvica: imagen anecoica fusiforme en cuerpo esponjoso de raíz peneana. Uretrografía retrógrada: uretra anterior normal, paso de contraste extraluminal ventral en uretra bulbar. Cistoscopia: sin hallazgos patológicos en uretra ni vejiga. Uretrografía retrógrada de control: dilatación quística del conducto de las glándulas de Cowper; siringocele perforado tipo 3 de Maizels. COMENTARIOS: El siringocele de Cowper es una patología infrecuente que puede debutar en cualquier momento de la infancia como infección urinaria, síntomas miccionales obstructivos o uretrorragia. La uretrografía es fundamental en su diagnóstico ya que la mayoría se objetivan por este medio o cistoscopia. Los casos con repercusión funcional del sistema urinario requieren tratamiento quirúrgico. En caso contrario podrá realizarse actitud expectante.

Testicular volume in adult patients undergoing cryptorchidism surgery in childhood, and impact on paternity. / Volumen testicular en pacientes adultos operados de criptorquidia en edad infantil y su efecto sobre la paternidad.

OBJECTIVE: To determine the impact of orchiopexy on testicular volume. To determine whether age at surgery impacts testicular volume. To determine whether paternity is associated with testicular volume. METHODS: Patients born between 1961 and 1985 who had undergone cryptorchidism surgery at the Pediatric Surgery Department of Miguel Servet University Hospital were included. Testis location and macroscopic appearance data were collected. Control testicular ultrasonographies and paternity surveys were carried out. Initially, the study was descriptive, and subsequently, inferential. RESULTS: Ultrasonography was performed in 216 testicular units a mean of 14.9 years following surgery, whereas the paternity survey was conducted among 157 respondents a mean of 41.9 years following surgery. There were significant differences (p = 0.0038) in testicular volume distribution according to epididymal dissociation. There was a linear correlation between older age at surgery and lower testicular volume, but without statistical significance. Significant differences (p < 0.0001) in testicular volume according to groups - operated and non-operated -, as well as between unilateral and bilateral cases, were found. No differences in paternity rates according to testicular volume were noted. CONCLUSION: Operated testes have lower volumes than normally descended testes. Older age at surgery may contribute to lower final volumes. Testes with full epididymal-testicular dissociation have lower total volumes. No relation between testicular volume and paternity rates was found. Further long-term studies are required.

OBJETIVOS: Determinar el efecto de la orquidopexia sobre el volumen testicular. Determinar si la edad de intervención afecta el volumen testicular. Determinar si la paternidad se asocia al volumen testicular. METODOS: Pacientes nacidos entre los años 1961 y 1985, intervenidos de criptorquidia por el Servicio de Cirugía Pediátrica del Hospital Universitario Miguel Servet, tomando datos de la localización del teste y aspecto macroscópico. Se realizan ecografías testiculares de control y encuestas de paternidad. Realizamos un estudio inicial descriptivo y posteriormente inferencial. RESULTADOS: La ecografía se realizó con una media de 14,9 años postoperatorios en 216 unidades testiculares y la encuesta de paternidad con una media 41,9 años postoperatorios a 157 participantes. Existen diferencias significativas (p = 0,0038) en la distribución del volumen testicular según disyunción del epidídimo. Hay correlación lineal entre mayor edad de tratamiento quirúrgico y menor volumen testicular sin llegar a significancia estadística. Se observan diferencias significativas (p < 0,0001) en el volumen testicular según grupos de operados y no operados, como también entre los unilaterales y los bilaterales. No se observan diferencias en índices de paternidad según volumen testicular. CONCLUSION: El teste intervenido presenta un volumen testicular menor que el teste de descenso normal. Una mayor edad de tratamiento quirúrgico puede contribuir a un menor volumen final del teste. Los testículos con disyunción epidídimo testicular completa, tienen menor volumen total. No observamos relación entre el volumen testicular y índices de paternidad. Más estudios a largo plazo son necesarios.

Differential diagnosis of congenital megaprepuce: therapeutic and prognostic relevance. / Diagnóstico diferencial del megaprepucio congénito: relevancia terapéutica y pronóstica.

Congenital megaprepuce is a urological pathology typical of childhood. It can be easily mistaken for other clinical entities such as physiological phimosis or buried penis. Owing to the risk of associated complications - primarily infectious and obstructive complications, with upper urinary tract involvement -, achieving an accurate diagnosis proves particularly significant for early treatment initiation. We present three cases of congenital megaprepuce diagnosed and operated on at our department from January 2019 to May 2020. Diagnosis, therapy, and clinical progression are described.

El megaprepucio congénito es una patología urológica propia de la infancia que puede ser fácilmente confundida con otras entidades clínicas como la fimosis fisiológica o el pene enterrado. Debido al riesgo de complicaciones asociadas, principalmente de carácter infeccioso u obstructivo con afectación del tracto urinario superior, es importante incidir en su correcto diagnóstico de cara a ofertar un tratamiento precoz. Presentamos tres casos de megaprepucio congénito, diagnosticados e intervenidos en nuestro servicio durante el periodo comprendido entre enero de 2019 y mayo de 2020, describiéndose el diagnóstico, la terapéutica empleada y la evolución clínica.

In vivo selection of KPC-94 and KPC-95 in Klebsiella pneumoniae isolates from patients treated with ceftazidime/avibactam.

Ceftazidime/avibactam (CZA) is used to treat infections caused by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae (KPC-Kp). Resistance to CZA is commonly related to point mutations in the blaKPC gene. Here we describe the in vivo emergence of CZA resistance in clinical isolates of KPC-Kp from four patients treated with this combination therapy. Four pre-therapy and five post-therapy KPC-Kp isolates were examined. Antibiogram (microdilution and gradient strips) and whole-genome sequencing were performed. The role of KPC mutations was validated by cloning blaKPC genes into competent Escherichia coli. All KPC-Kp isolates recovered before treatment with CZA were susceptible to CZA and produced KPC-3. Five KPC-Kp isolates recovered after treatment were resistant to this combination. Three post-therapy isolates from two patients produced KPC-31 (D179Y mutation). Additionally, we identified the novel substitution LN169-170H (KPC-94) in one isolate, and the combination of two independently described mutations, D179Y and A172T (KPC-95), in another isolate. All KPC-Kp isolates belonged to sequence type 512 (ST512). All CZA-resistant isolates with blaKPC variants had restoration of carbapenem susceptibility. In conclusion, resistance to CZA was related to blaKPC mutations, including the new KPC-94 and KPC-95 alleles, which do not cause carbapenem resistance.

Modelo de atención para el tratamiento de pacientes con osteoartritis del primer al tercer nivel / Model of care for the treatment of patients with osteoarthritis from the first to the third level

Resumen: Introducción: La osteoartritis en México es una de las 10 causas más frecuentes de discapacidad. El diagnóstico temprano y la detección de factores de riesgo son determinantes para el tratamiento. La organización institucional establece las pautas terapéuticas de acuerdo con cada nivel de atención, pero no se logra un manejo efectivo. Material y métodos: Se realizó un estudio prospectivo, piloto, de intervención, clínico conformado por pacientes diagnosticados con diferentes grados de osteoartritis de rodilla en el primer, segundo y tercer nivel de atención, con un modelo integrador que incluyó un grupo de profesionales para la intervención de la evaluación nutricional, fisioterapéutica, social y sicológica desde el primer nivel. Resultados: La intervención de un grupo de atención multidisciplinaria permite una correcta evaluación y asignación del nivel de atención optimizando los recursos humanos y materiales. La participación de diferentes disciplinas en nutrición, sicología, trabajo social, fisioterapia y rehabilitación modifica el estilo de vida global al involucrar a los propios pacientes en su tratamiento. El grupo de intervención tuvo mejoras en la escala de dolor análogo visual, arcos de movilidad, bajo índice de masa corporal y mejoría en el aspecto sicológico. Conclusiones: El modelo de atención propuesto demuestra que la implementación en la institución y en cada unidad clínica de atención debe considerarse para mejorar los resultados.

Abstract: Introduction: Osteoarthritis in Mexico is one of the ten most frequent causes of disability. Early diagnosis and detection of risk factors are determinant for treatment. The institutional organization establishes therapeutic guidelines according to each level of care, but effective management is not achieved. Material and methods: A prospective, pilot, interventional, clinical study was conducted, which included patients diagnosed with different degrees of knee osteoarthritis in the first, second and third level of care, with an integrative model that includes a group of professionals for the intervention of nutritional, physiotherapeutic, social and psychological evaluation from the first level. Results: The intervention of a multidisciplinary care group allows a correct evaluation and assignment of the level of care, optimizing human and material resources. The participation of different disciplines in nutrition, psychology, social work, physiotherapy and rehabilitation modifies the global lifestyle by involving the patients themselves in their treatment. The intervention group had improvements in the visual analog pain scale, mobility arcs, low body mass index and improvement in the psychological aspect. Conclusions: The proposed model of care demonstrates that implementation in the institution and in each clinical care unit should be considered to improve outcomes.

Pilonidal sinus in adolescence: is there an ideal surgical approach? / Sinus pilonidal durante la adolescencia: ¿existe el abordaje quirúrgico ideal?

OBJECTIVE: The objective of this work was to compare excision with primary closure according to Karydakis technique (KT) with en bloc resection with secondary healing (EB) in the treatment of pilonidal sinus in adolescents. MATERIAL AND METHODS: An observational, retrospective, multi-center study was carried out in adolescent patients (11-18 years old) diagnosed with pilonidal sinus and undergoing surgery from 2011 to 2017. Patients were divided into 2 groups: KT (pediatric surgeons) and EB (general surgeons). RESULTS: Our sample consisted of 61 patients (KT: 26 patients; EB: 35 patients). Mean total recovery time (days) was significantly shorter in the KT group (37.77 KT vs. 107.76 EB, p< 0.001). In terms of postoperative complications, no differences were noted regarding overall complication rate (53.8% KT vs. 40% EB). However, differences were found in postoperative bleeding (0% KT vs. 25.7% EB, p=0.005), seroma occurrence (23.1% KT vs. 0% EB, p=0.003), and surgical wound dehiscence (42.3% KT vs. 8.6% EB, p=0.002). Recurrence rate was lower in the Karydakis group than in the en bloc resection group (4% vs. 28.6%, p=0.015). CONCLUSIONS: Both surgical techniques (KT and EB) are acceptable and safe, but in our study, Karydakis technique demonstrated to be more effective than en bloc resection with secondary closure, since it allowed for shorter recovery times and lower recurrence rates. Therefore, Karydakis surgical technique can be an excellent alternative in the treatment of pilonidal sinus in the adolescent population.

OBJETIVOS: El objetivo de este trabajo es comparar la escisión con cierre primario según la técnica de Karydakis (TK) y la exéresis en bloque con cicatrización por segunda intención (EB), para el tratamiento del sinus pilonidal en adolescentes. MATERIAL Y METODOS: Estudio observacional, retrospectivo y multicéntrico en pacientes en edad adolescente (11-18 años), con diagnóstico de sinus pilonidal e intervenidos entre 2011-2017, divididos en 2 grupos: TK (cirujanos pediátricos) y EB (cirujanos generales). RESULTADOS: Presentamos una muestra de 61 pacientes (TK: 26 pacientes y EB: 35 pacientes). El tiempo medio (días) de recuperación total fue significativamente más corto en el grupo TK (37,77 TK vs 107,76 EB; p< 0,001). En cuanto a las complicaciones postoperatorias, no se encontraron diferencias respecto a la tasa global de complicaciones (53,8% TK vs 40% EB). Sin embargo, se demuestran diferencias en el sangrado postquirúrgico (0% TK vs 25,7% EB; p= 0,005), aparición de seroma (23,1% TK vs 0% EB; p= 0,003) y dehiscencia de herida quirúrgica (42,3% TK vs 8,6% EB; p= 0,002). La tasa de recurrencia ha sido menor en el grupo de Karydakis respecto al grupo de exéresis en bloque (4% vs 28,6%; p= 0,015). CONCLUSIONES: Ambas técnicas quirúrgicas son aceptables y seguras, pero en nuestro estudio la técnica de Karydakis se ha mostrado más eficaz que la exéresis en bloque con cierre por segunda intención, ya que requiere un menor tiempo de recuperación del paciente, con una tasa de recurrencia inferior. Por ello, la técnica quirúrgica de Karydakis puede suponer una alternativa excelente en el tratamiento de la enfermedad pilonidal en población adolescente.

[Model of care for the treatment of patients with osteoarthritis from the first to the third level]. / Modelo de atención para el tratamiento de pacientes con osteoartritis del primer al tercer nivel.

INTRODUCTION: Osteoarthritis in Mexico is one of the ten most frequent causes of disability. Early diagnosis and detection of risk factors are determinant for treatment. The institutional organization establishes therapeutic guidelines according to each level of care, but effective management is not achieved. MATERIAL AND METHODS: A prospective, pilot, interventional, clinical study was conducted, which included patients diagnosed with different degrees of knee osteoarthritis in the first, second and third level of care, with an integrative model that includes a group of professionals for the intervention of nutritional, physiotherapeutic, social and psychological evaluation from the first level. RESULTS: The intervention of a multidisciplinary care group allows a correct evaluation and assignment of the level of care, optimizing human and material resources. The participation of different disciplines in nutrition, psychology, social work, physiotherapy and rehabilitation modifies the global lifestyle by involving the patients themselves in their treatment. The intervention group had improvements in the visual analog pain scale, mobility arcs, low body mass index and improvement in the psychological aspect. CONCLUSIONS: The proposed model of care demonstrates that implementation in the institution and in each clinical care unit should be considered to improve outcomes.

INTRODUCCIÓN: La osteoartritis en México es una de las 10 causas más frecuentes de discapacidad. El diagnóstico temprano y la detección de factores de riesgo son determinantes para el tratamiento. La organización institucional establece las pautas terapéuticas de acuerdo con cada nivel de atención, pero no se logra un manejo efectivo. MATERIAL Y MÉTODOS: Se realizó un estudio prospectivo, piloto, de intervención, clínico conformado por pacientes diagnosticados con diferentes grados de osteoartritis de rodilla en el primer, segundo y tercer nivel de atención, con un modelo integrador que incluyó un grupo de profesionales para la intervención de la evaluación nutricional, fisioterapéutica, social y sicológica desde el primer nivel. RESULTADOS: La intervención de un grupo de atención multidisciplinaria permite una correcta evaluación y asignación del nivel de atención optimizando los recursos humanos y materiales. La participación de diferentes disciplinas en nutrición, sicología, trabajo social, fisioterapia y rehabilitación modifica el estilo de vida global al involucrar a los propios pacientes en su tratamiento. El grupo de intervención tuvo mejoras en la escala de dolor análogo visual, arcos de movilidad, bajo índice de masa corporal y mejoría en el aspecto sicológico. CONCLUSIONES: El modelo de atención propuesto demuestra que la implementación en la institución y en cada unidad clínica de atención debe considerarse para mejorar los resultados.

What's up with my neck? Ultrasound and surgical findings in cervical midline tumors. / ¿Qué tengo en el cuello? Hallazgos ecográficos y quirúrgicos en tumoraciones de línea media cervical.

OBJECTIVE: Evaluate ultrasound (US) sensitivity and specificity in suspected thyroglossal duct cysts (TGDC) undergoing surgery in our hospital, and their correlation with surgical findings. MATERIAL AND METHODS: Retrospective study of 150 patients undergoing surgery for midline neck mass suggestive of TGDC (2008-2018). We analyzed epidemiological variables and compared the correlation between diagnostic ultrasound imaging and surgical findings, considering previous episodes of local infection. RESULTS: Mean age at surgery was 3.96 years (0.75-12.58 years). Of the 150 patients, 81 were male and 69 were female. Following ultrasound examination, 110 were suspected to have TGDC, and diagnosis was confirmed after surgery in 80 cases. Of the remaining 40 cases without TGDC-compatible US examination, TGDC was confirmed in 15 cases. The rest were diagnosed with dermoid cyst (49), lymphadenopathy (4), and vascular malformation (2). US sensitivity was 84%, while specificity was 45%, with a positive predictive value of 73%, and a negative predictive value of 62%. In 62.1% (59) of TGDCs, a previous infection episode had been described, with 16.7% of cases requiring surgical drainage. 13.6% had recurrence after Sistrunk technique. There was no statistically significant relationship between previous infection episodes and postsurgical recurrence, or between surgical or spontaneous drainage and cyst recurrence. CONCLUSIONS: Even though US role in eutopic thyroid gland identification cannot be doubted, it provides with low specificity in the study of midline neck masses. Therefore, the physician's opinion should be prioritized.

OBJETIVO: Evaluar la sensibilidad y especificidad de la ecografía en las sospechas de quistes del conducto tirogloso (QCT) intervenidas en nuestro centro y su correlación con los hallazgos quirúrgicos. MATERIAL Y METODOS: Estudio retrospectivo de 150 pacientes intervenidos por nódulo en línea media cervical sugestivo de QCT (2008-2018). Recogida de variables epidemiológicas y comparación de la correlación de imagen ecográfica con hallazgos quirúrgicos, considerando la presencia de episodios de sobreinfección previos. RESULTADOS: La edad media de intervención fue de 3,96 años (0,75-12,58 años), siendo 69 mujeres y 81 hombres. De 150 pacientes, 110 presentaron ecografía compatible con QCT, confirmándose el diagnóstico por anatomía patológica en 80 casos. De los 40 pacientes con ecografía no compatible, en 15 se confirmó diagnóstico de QCT. En 95 pacientes del total se identificó QCT. El resto fueron diagnosticados de quiste dermoide (49), adenopatía (4) y malformación vascular (2). La sensibilidad ecográfica fue del 84% y la especificidad del 45%, el valor predictivo positivo del 73% y valor predictivo negativo del 62%. El 62,1% (59) de los QCT tuvo episodio de sobreinfección, precisando drenaje quirúrgico 16,7%. El 13,6% presentó recidiva tras técnica de Sistrunk. No se encontró relación estadísticamente significativa entre episodios previos de infección y recidiva postquirúrgica, ni entre drenaje (espontáneo o quirúrgico) y recidiva del quiste. CONCLUSIONES: A pesar de la importancia de la ecografía para valorar tiroides eutópico en sospechas de QCT, su resultado en el estudio de quistes cervicales tiene baja especificidad, debiendo primar el criterio del facultativo.

PIMA: A population informative multiplex for the Americas.

We describe an ancestry-informative autosomal SNP multiplex designed to be a small-scale, flexible panel that can complement uniparental markers in assessing the American variability (i.e. pre-Colombian) found in contemporary indigenous American populations. This study centered on choosing SNPs with the specific characteristics of: 1) extreme allele frequency differences between indigenous Americans and the African, European and East Asian population groups that contribute to present-day population variation in the Americas; 2) high informativeness-for-assignment In values; and 3) well-spaced genomic distribution and chromosomal separation from existing small-scale forensic ancestry marker sets. The resulting capillary electrophoresis SNaPshot single base extension test was named: PIMA (Population Informative Multiplex for the Americas), comprising 26 autosomal SNPs, a single X-chromosome SNP plus the amelogenin sex marker adapted for SNaPshot. PIMA complements the established 34plex forensic ancestry panel to provide a powerful and simple tool for the analysis of American populations, including those with admixed histories, commonly encountered in America. Comparing the results obtained with the combined marker panels of PIMA and 34plex to SNP data from a much larger ancestry panel allowed us to gauge their relative efficiency. PIMA+34plex gives equivalent power to the 314-SNP 'LACE' genomic ancestry control panel, while requiring a much smaller genotyping effort. The ancestry profiles and genetic structure of 22 populations spread across the American continent were estimated using PIMA+34plex data, and those estimates were contrasted with information provided by uniparental markers (mtDNA and Y-chromosome loci) for a small set of admixed individuals from Venezuela. Our results indicate that an American genetic component is efficiently detected in contemporary American populations using a small set of ancestry informative SNPs, and these co-ancestry estimates are consistent with the known history and demography of the Americas. The small scale and high population differentiation power of PIMA, particularly when combined with 34plex, provides a practical and powerful tool for genetic studies of American populations as well as forensic DNA analyses.

Occupational exposure to endocrine-disrupting chemicals and other parental risk factors in hypospadias and cryptorchidism development: a case-control study.

AIM OF THE STUDY: Endocrine-disrupting chemicals (EDCs) are exogenous agents that are capable of altering the endocrine system functions, including the regulation of developmental processes. The aim of this study was to investigate the association between EDC exposure and other parental factors in the etiology of hypospadias and cryptorchidism. METHODS: A case-control study was conducted. Cases (n = 210) were infants aged between 6 months and 14 years diagnosed with hypospadias or cryptorchidism who attended the authors' hospital over a period of 18 months, and controls (n = 210) were infants within the same range of age and without any urological disorders who attended the outpatient clinic of the same hospital during the same time period. Their selection was independent of exposures. Data on parental occupational exposure to EDCs and other sociodemographic variables were collected through face-to-face interviews and systematically for both cases and controls. Crude and adjusted odds ratios (ORs) were estimated to control for confounding with their 95% confidence interval (CI) by means of logistic regressions. Specifically, three final models of a dichotomous outcome were constructed: one for cryptorchidism, one for hypospadias, and the third considering both malformations together. The Hosmer-Lemeshow test was used to assess the goodness of fit of the models. Their discriminatory accuracy (DA) was ascertained by estimating their areas under the receiver operating characteristic curves area under the curve (AUC) along with their 95% CI. RESULTS: Associations were found between advanced maternal age (OR adjusted = 1.82; 95% CI: 1.14-2.92), mother's consumption of anti-abortives (OR = 5.40; 95% CI: 1.40-38.5) and other drugs (OR = 2.02; 95% CI: 1.31-3.16) during pregnancy, maternal and paternal occupational exposure to EDCs (OR = 4.08; 95% CI: 2.03-8.96 and OR = 3.90; 95% CI: 2.41-6.48, respectively), fathers smoking (OR = 2.0; 95% CI: 1.33-2.99), and fathers with urological disorders (OR = 2.31; 95% CI: 1.15-4.90). Maternal and paternal high educational level could be protective of cryptorchidism (OR = 0.47; 95% CI: 0.28-0.76 and OR = 0.63; 95% CI: 0.42-0.93, respectively). The DA of the models for the whole sample (AUC = 0.75; 95% CI: 0.70-0.79) for cryptorchidism (AUC = 0.76; 95% CI: 0.71-0.82) and for hypospadias (AUC = 0.75; 95% CI: 0.69-0.81) was moderately high. CONCLUSIONS: Advanced age, some parental occupational exposure to EDCs, some drug consumption, smoking, and the father's history of urological disorders may increase risk and predict the developments of these malformations. Studies with higher samples sizes are needed to assess associations between individual EDC occupational exposures and drugs and these malformations.

[PEG versus LAP: towards a safer technique for long-term enteral nutrition]. / PEG versus LAP: hacia una técnica más segura para la nutrición enteral a largo plazo.

OBJECTIVE: To compare the outcomes and complications between laparoscopic gastrostomies (LG) and percutaneous endoscopic gastrostomies (PEG). METHODS: Retrospective review of 79 patients who had their gastrostomies inserted in our hospital (2010-2017). We compared surgical techniques, minor and major complications. RESULTS: A total of 24 LG (14 males) and 55 PEG (29 males) were performed. The mean age was 4.77 [0.15-15.56] years for LG and 5.37 [0.12-16.58] years for PEG. The median time of presentation of complications was 59 [2-975] days. No statistical differences were found in minor complications between both techniques; however, minor complications were more frequent in LG (54.16% in LG versus 34.55% in PEG), mainly, overgranulation and peristomal leakage. A statistically significant association was found between patients with oncological comorbidity and minor complications (p<0.05).A statistically significant association was found between major complications and PEG (4.17% in LG versus 21.82% in PEG), p=0.045. The major complications were one tube dislodgement in the LG group, and 9 Buried-Bumper syndrome, one colon interposition without perforation, one colon perforation, one omentum interposition, two tube dislodgements and one small bowel perforation in PEG group. CONCLUSIONS: Given the statistically significant association between major complications and the PEG group, being the higher frequency and severity of these complications with this technique evident; we consider the LG a safer technique. However, studies with larger number of patients and multicentric are necessary.

OBJETIVO: Comparar los resultados y las complicaciones de las gastrostomías laparoscópicas (LAP) frente a las gastrostomías endoscópicas percutáneas (PEG). MATERIAL Y METODO: Estudio retrospectivo de 79 pacientes intervenidos quirúrgicamente para la realización de una gastrostomía en nuestro centro (2010-2017). Comparamos las complicaciones menores y mayores entre ambas técnicas. RESULTADOS: Realizamos 24 LAP (14 varones) y 55 PEG (29 varones). La edad media fue de 4,77 [0,15-15,56] años en las LAP y 5,37 [0,12-16,58] años en las PEG. La mediana del tiempo de presentación de las complicaciones fue de 59 [2-975] días. No se encontraron diferencias significativas en las complicaciones menores entre ambas técnicas, sin embargo, son más frecuentes en las LAP (5,16% en LAP frente a 34,55% en PEG), siendo principalmente granulomas y fugas perigastrostomías. Encontramos asociación estadísticamente significativa entre pacientes con comorbilidad oncológica y la aparición de complicaciones menores (p<0,05), así como una asociación estadísticamente significativa entre las PEG y las complicaciones mayores (4,17% en LAP frente a 21,82% en PEG), con p=0,045. Las complicaciones mayores fueron, en las LAP un descolgamiento y en las PEG 9 síndrome de Buried-Bumper, un atrapamiento de colon sin perforación, una perforación de colon, un atrapamiento de epiplón, dos descolgamientos y una perforación de intestino delgado. CONCLUSIONES: Dada la asociación existente entre las complicaciones mayores y el grupo PEG, siendo evidente la mayor frecuencia y gravedad de estas complicaciones con esta técnica, consideramos la LAP una técnica más segura. Sin embargo, son necesarios estudios con un mayor tamaño muestral y, a ser posible, multicéntrico.

Functional insights into the infective larval stage of Anisakis simplex s.s., Anisakis pegreffii and their hybrids based on gene expression patterns.

BACKGROUND: Anisakis simplex sensu stricto and Anisakis pegreffii are sibling species of nematodes parasitic on marine mammals. Zoonotic human infection with third stage infective larvae causes anisakiasis, a debilitating and potentially fatal disease. These 2 species show evidence of hybridisation in geographical areas where they are sympatric. How the species and their hybrids differ is still poorly understood. RESULTS: Third stage larvae of Anisakis simplex s.s., Anisakis pegreffii and hybrids were sampled from Merluccius merluccius (Teleosti) hosts captured in waters of the FAO 27 geographical area. Specimens of each species and hybrids were distinguished with a diagnostic genetic marker (ITS). RNA was extracted from pools of 10 individuals of each taxon. Transcriptomes were generated using Illumina RNA-Seq, and assembled de novo. A joint assembly (here called merged transcriptome) of all 3 samples was also generated. The inferred transcript sets were functionally annotated and compared globally and also on subsets of secreted proteins and putative allergen families. While intermediary metabolism appeared to be typical for nematodes in the 3 evaluated taxa, their transcriptomes present strong levels of differential expression and enrichment, mainly of transcripts related to metabolic pathways and gene ontologies associated to energy metabolism and other pathways, with significant presence of excreted/secreted proteins, most of them allergens. The allergome of the 2 species and their hybrids has also been thoroughly studied; at least 74 different allergen families were identified in the transcriptomes. CONCLUSIONS: A. simplex s.s., A. pegreffi and their hybrids differ in gene expression patterns in the L3 stage. Strong parent-of-origin effects were observed: A. pegreffi alleles dominate in the expression patterns of hybrids albeit the latter, and A. pegreffii also display significant differences indicating that hybrids are intermediate biological entities among their parental species, and thus of outstanding interest in the study of speciation in nematodes. Analyses of differential expression based on genes coding for secreted proteins suggests that co-infections presents different repertoires of released protein to the host environment. Both species and their hybrids, share more allergen genes than previously thought and are likely to induce overlapping disease responses.

[Is there a difference in the postoperative follow up of ureteropelvic junction obstruction according to age?] / ¿Existe diferencia en la evolución postoperatoria de la estenosis pieloureteral según la edad?

OBJECTIVE: To compare postoperative follow up in patients older and younger than 12 months who underwent surgical treatment of ureteropelvic junction obstruction (UJO). MATERIAL AND METHODS: Retrospective study of 77 patients, 78 kidney units, intervened from UJO (2007-2014). We analyzed epidemiological, clinical, echographic, and pre and postoperative renogram variables, outcomes and complications. We divided the patients into 2 groups according to age: group A ≤ 12 months and group B > 12 months, comparing the results by statistical analysis, considering p < 0.05 statistically significant. RESULTS: Group A: 38 patients, 26 males (68.4%), one bilateral UJO and 22 rights (57.9%), 36 prenatal diagnoses (92.3%) and mean age of intervention 5.28 months [range 0.24 -11,28]. We performed 9 minilumbotomies, 29 assisted by retroperitoneoscopy (ARP) and 1 pneumatic dilation (PD). Group B: 39 patients, 26 males (66.7%), 10 rights (25.64%), 19 prenatal diagnoses (48.7%) and mean age 6.13 years [range 1.13-14.52]. 15 minilumbotomies, 20 ARP, 3 laparoscopic and 1 PD. Preoperative mean renal function (MRF) of group A: 35.9 ± 13.4 [range 8-57] vs. 39.74 ± 13.91 [range 9-57] in group B (p = 0.347). Postoperative MRF 43.29 ± 18.2 [range 12-100] group A and 39.41 ± 12.89 [range 11-54] group B (p = 0.464). Group A and B: 11 and 8 complications, respectively (p = 0.429). We did not find statistically significant differences in the mean preoperative anteroposterior diameter (DAP) between both groups (p = 0.313). We compared DAP at 3, 6, 12, 24 and 48 postoperative months, observing a greater reduction of DAP from group A compared to B; however, we found only statistically significant differences in DAP at 3 months postoperatively (p = 0.047). CONCLUSION: Renal DAP is reduced postoperatively more in patients younger than 1 year. Moreover, an improvement of the DRF after pieloplasty can be observed despite not being statistically significant.

OBJETIVO: Comparar la evolución postquirúrgica en pacientes mayores y menores de 12 meses intervenidos de estenosis pieloureteral (EPU). MATERIAL Y METODOS: Estudio retrospectivo de 77 pacientes, 78 unidades renales, intervenidos por EPU (2007-2014). Analizamos variables epidemiológicas, clínicas, ecográficas y de renogramas pre y postoperatorios, resultados y complicaciones. Dividimos a los pacientes en 2 grupos según la edad: grupo A ≤ 12 meses y grupo B > 12 meses, comparando los resultados mediante análisis estadísticos (p < 0,05 estadísticamente significativo). RESULTADOS: Grupo A: 38 pacientes, 26 varones (68,4%), una EPU bilateral y 22 derechas (57,9%), 36 diagnósticos prenatales (92,3%) y edad media de intervención 5,28 meses [rango 0,24-11,28]. Realizamos 9 minilumbotomías, 29 asistidas por retroperitoneoscopia (ARP) y una dilatación neumática (DN). Grupo B: 39 pacientes, 26 varones (66,7%), 10 derechas (25,64%), 19 diagnósticos prenatales (48,7%) y edad media 6,13 años [rango 1,13-14,52]. Realizamos 15 minilumbotomías, 20 ARP, 3 laparoscópicas y 1 DN. Función renal diferencial media (FRDM) preoperatoria del grupo A: 35,9 ± 13,4 [rango 8-57] vs. 39,74 ± 13,91 [rango 9-57] grupo B (p = 0,347). FRDM postoperatoria 43,29 ± 18,2 [rango 12-100] grupo A y 39,41 ± 12,89 [rango 11-54] grupo B (p = 0,464). Grupos A y B: 11 y 8 complicaciones, respectivamente (p = 0,429). No encontramos diferencias estadísticamente significativas en la media del diámetro anteroposterior (DAP) de la pelvis preoperatoria entre ambos grupos (p = 0,313). Comparamos los DAP a los 3, 6, 12, 24 y 48 meses postoperatorios, observando una reducción mayor del DAP del grupo A frente al B, sin embargo, solo encontramos diferencias estadísticamente significativas en el DAP a los 3 meses postoperatorios (p = 0,047). CONCLUSION: El DAP de la pelvis renal se reduce más en los pacientes menores de 1 año a los 3 meses postoperatorios. Además, podemos observar una evidente mejoría de la FRDM tras la pieloplastia a pesar de no encontrar diferencias estadísticamente significativas.

[Is there an ideal patient for transumbilical laparoscopic assisted appendectomy?] / ¿Existe el paciente ideal para la apendicectomía transumbilical asistida por laparoscopia?

OBJECTIVES: To identify the factors that lead to postoperative morbidity in acute appendicitis patients treated using a TULAA (Transumbilical laparoscopic assisted appendectomy) approach. MATERIAL AND METHODS: Retrospective review of patients treated through a TULAA approach between 2007 and 2014. Data concerning the location of the appendix, need for conversion, appendiceal abscess or perforation, surgical time and other complications were collected. Student's T test and Chi-squared test were used for statistical analysis. RESULTS: A total of 111 appendectomies underwent TULAA. The average operating time was 79 minutes (45-150). Nonperforated appendicitis was found in 90% of patients with 10% having perforated appendicitis or appendiceal abscess. In 35,13% of cases, additional trocars were used, usually when the appendix was in a retrocecal position (89,5%). When the appendix was found in a pelvic or ileal position, a need for extra trocars decreased to 25.9% (p< 0.05). The surgery was converted to open surgery in 6,3% of the cases. The appendix in a retrocecal position had a conversion rate of 20,8% compared to 2,3% of cases with an appendix in a pelvic location (p< 0.05). A total of 3,6% reported postoperative wound infection, possibly caused by perforation of the appendix during extraction (p< 0.05). All the perforated appendixes were considered complicated appendixes. CONCLUSIONS: The retrocecal location of the appendix is associated with the need to install additional trocars or conversion to open surgery. The TULAA approach is ideal for patients with nonperforated acute appendicitis in a pelvic or ileal location.

OBJETIVOS: Identificar los factores que influyen en la morbilidad postoperatoria en pacientes intervenidos mediante apendicectomía transumbilical asistida por laparoscopia o TULAA (transumbilical laparoscopic assisted appendectomy). MATERIAL Y METODOS: Estudio analítico retrospectivo de pacientes intervenidos mediante TULAA en nuestro centro entre 2007-2014. Se incluyeron las variables: localización del apéndice, reconversiones, tipo de apendicitis, tiempo quirúrgico y complicaciones. Se utilizó t de Student y chi-cuadrado para el análisis estadístico. RESULTADOS: Se analizaron un total de 111 apendicectomías TULAA. Tiempo quirúrgico medio 79 minutos (45-150). El 90% de pacientes tenían apendicitis simple y 10% apendicitis complicada. En 35,13% casos se utilizaron trócares adicionales, cuando el apéndice se posicionaba de forma atípica ascendió al 89,5% de casos, mientras que cuando el apéndice se encontró en posición típica este dato disminuía al 25,9% (p< 0,05). Se reconvirtió en un 6,3% de casos (20,8% apéndice en posición atípica, 2,3% apéndice en posición habitual, pp< 0,05). Se encontró un 3,6% de casos con infección de herida quirúrgica explicada por perforación iatrogénica en la maniobra de extracción del apéndice (pp< 0,05). Todas las apéndices perforadas en la maniobra de extracción se trataron de apendicitis complicadas. CONCLUSIONES: La posición anómala del apéndice se relaciona de forma significativa con la necesidad de colocación de trócares adicionales o reconversión a cirugía abierta. Consideramos la TULAA ideal en los casos de localización anterior del apéndice y en apendicitis no complicadas.

[Functional outcomes in postsurgery for Hirschsprung´s disease]. / Resultados funcionales en postoperados de enfermedad de Hirschsprung.

OBJECTIVE: To analyze functional outcomes of patients operated for Hirschsprung's disease (HD). METHODS AND MATERIAL: Retrospective study of patients with HD (2000-2014). We analyzed surgical technique, age at diagnostic and treatment, amount of resected bowel, complications and their influence on functional outcomes. RESULTS: Of the 44 diagnosed with HD, 37 were operated in our center. Men 29 (78.4%). With associated pathology 7 (18.9%), and 5 (13.5%) made their debut with enterocolitis. Diagnostic average age 1.04 (0.0 to 7.1 years) and operation average age 1.4 (0.3 to 9.3 years). We did transanal endorectal pull-through (TERPT) in 17 (45.9%) patients and transabdominal approach (TAB) in 20 (54.1%). Received postoperative dilations 8 (21.6%) patients. Functional outcomes were evaluated at an average age of 9.6 (4.7-15.7years) incontinence/soiling were found in 6/28 (21.4%) and constipation in 5/28 (17.9%). The highest rate of incontinence/ soiling was present in 41.7 % TERPT vs. 6.2% TAB (p= 0,036). However, the average age at follow-up in patients with incontinence/soiling was 5.9 ± 1.3 years old, less than the 10,6 ± 3.2 years in the ones without incontinence/soiling (p< 0,001). We found that the 5 cases of constipation arose in patients with TAB (p= 0, 044), and likewise all were operated under 1 year of age. CONCLUSION: Despite the well known benefits of the TERPT over the TAB, we found a greater degree of incontinence/soiling in the TERPT, which could be explained by a less follow up, since incontinence/soiling improves with age. On the other hand there is a higher rate of constipation in the TAB that lasts in time.

OBJETIVO: Analizar resultados funcionales de pacientes operados por enfermedad de Hirschsprung (EH). MATERIAL Y METODOS: Estudio retrospectivo de pacientes con EH (2000-2014). Se analizó técnica quirúrgica, edad diagnóstica y de tratamiento, cantidad de intestino resecado, complicaciones y su influencia sobre resultados funcionales. RESULTADOS: De los 44 diagnosticados con EH se operaron en nuestro centro 37. Varones 29 (78,4%). Con patología asociada 7 (18,9%), y 5 (13,5%) debutaron con enterocolitis. Edad media diagnóstica 1,04 (rango: 0,01-7,1 años) y de intervención 1,4 (0,3-9,3 años). A 17 (45,9%) se realizó descenso endorectal trans-anal (DERTA) y a 20 (54,1%) descenso trans-abdominal (DTA). Recibieron dilataciones postquirúrgicas 8 (21,6%). Los resultados funcionales se valoraron a una edad media de 9,6 (4,7-15,7 años) encontrando incontinencia/encopresis en 6/28 (21,4%) y estreñimiento en 5/28 (17,9%). El mayor índice de incontinencia/encopresis se presentó en los DERTA 41,7% vs 6,2% DTA (p= 0,036); sin embargo, la edad media al seguimiento en pacientes con incontinencia/encopresis fue menor 5,9 ± 1,3 años vs 10,6 ± 3,2 años en los que no la presentan (p< 0,001). Encontramos que los 5 casos de estreñimiento se presentaron en pacientes con DTA (p= 0,044) y, así mismo, todos operados ≤ 1 año de edad. CONCLUSIONES: A pesar de los ya comprobados beneficios del DERTA sobre el DTA, hemos encontrado un mayor grado de incontinencia/encopresis en el DERTA, que podría estar explicado por el menor tiempo de seguimiento, dado que la incontinencia/encopresis mejora con la edad. Por el contrario, hay un mayor índice de estreñimiento en el DTA que se prolonga en el tiempo.

[Analysis of hypertrophic pyloric stenosis: size does matter]. / Análisis de la estenosis hipertrófica del píloro: el tamaño sí importa.

OBJECTIVES: To analyze the correlation between pyloric size and evolution of patients surgically treated for infantile hypertrophic pyloric stenosis (IHPS). PATIENTS AND METHODS: We realized a retrospective study of 109 patients undergoing IHPS in 5 years. We analyzed by χ2 test if a correlation between evolution time, age and postoperative vomiting and gastroesophageal reflux disease (GERD), and pyloric muscle thickness (group A > 4.5 mm and group B ≤ 4.5 mm) and pyloric channel length (group A ≥ 20 mm and group B < 20 mm) exists. RESULTS: There is a statistically significant correlation between longer evolution history (>48 h) and pyloric length ≥ 20 mm and between age (> 30 days) and muscle thickness > 4.5 mm (p= 0.022 and p= 0.009, respectively). Also, 38.5% of 109 patients had postoperative emesis 2 days after surgery and 13.8% had GERD for a median time of 8.27 months (1-12 months), showing that there is a statistically significant correlation (p= 0.007) between pyloric channel length ≥ 20 mm and postoperative emesis. It was not observed correlation between pyloric thickness and length and GERD. CONCLUSIONS: It has been observed that there is correlation between pyloric length ≥ 20 mm and postoperative emesis. However, it has not been observed regarding the pyloric muscle thickness. A longer preoperative evolution and age > 30 days are correlated to channel length ≥ 20 mm and muscle thickness > 4.5 mm, respectively.

OBJETIVOS: Analizar la relación entre el tamaño del píloro y la evolución de los pacientes intervenidos de estenosis hipertrófica del píloro (EHP). PACIENTES Y METODOS: Estudio retrospectivo de 109 pacientes intervenidos de EHP en 5 años. Se analiza mediante el test de ji al cuadrado si existe relación entre las horas de evolución, la edad y los vómitos y reflujo gastroesofágico (RGE) postoperatorios, con el grosor muscular pilórico (grupo A > 4,5 mm y grupo B ≤ 4,5 mm) y la longitud del canal pilórico (grupo A ≥ 20 mm y grupo B < 20 mm). RESULTADOS: Existe una relación estadísticamente significativa entre el mayor tiempo de evolución (> 48 h) y la longitud del píloro ≥ 20 mm y entre la edad (> 30 días) y el grosor muscular > 4,5 mm, con una p= 0,022 y p= 0,009, respectivamente. Asimismo, de los 109 pacientes, el 38,5% presentó algún vómito durante los 2 días posteriores a la intervención y el 13,8% presentó RGE durante un tiempo medio de 8,27 meses (1-12 meses), demostrándose que existe relación entre una longitud pilórica ≥ 20 mm y la presencia de vómitos postoperatorios, siendo estadísticamente significativo (p= 0,007). No encontramos una relación estadísticamente significativa entre el grosor y la longitud del píloro con el RGE. CONCLUSIONES: Se ha observado que existe relación entre una longitud del canal pilórico ≥ 20 mm y los vómitos postoperatorios, sin embargo, no se ha observado relación con el grosor muscular pilórico. Pese a ello, un mayor tiempo de evolución y una edad > 30 días sí están relacionados con la longitud ≥ 20 mm y el grosor muscular > 4,5 mm, respectivamente.

[The diagnosis of pilomatrixoma in children is not as easy as it may seem. A review of 126 cases]. / El diagnóstico del pilomatrixoma infantil no es tan fácil como parece: revisión de 126 casos.

OBJECTIVE: To describe our experience with pilomatrixomas, clinical presentation, clinical accuracy, associated diseases, and surgical treatment. METHODS: A retrospective review of patients with a pathology report of an excised pilomatrixoma between 2011 and 2014. Data regarding gender, age of intervention, number of masses, size, location, and preoperative clinical diagnosis, pathology report, recurrences, and associated diseases were collected. Statistical analysis was performed using EPIinfo 7.1.5. RESULTS: A total of 151 tumors in 138 patients were removed, 25 were excluded for having a clinical diagnosis of pilomatrixoma without confirmation of the pathology report. The remaining 126 cases have an average age of 8.26 years (range 1-14 years) and 50.72% are males. The tumors were located above the umbilicus in 97% of the cases, with a higher concentration of 50.72% in the head and neck. The clinical diagnosis corresponds with the pathology report in 69.05% of cases. Out of these confirmed cases the most frequent differential diagnosis is cystic lesion (11.90%) and dermoid cyst (10.22%). There were no cases of malignant degeneration. The average diameter is 1.13 cm, there were no recurrences, but there were 11 cases of a new lesion in a different location. There is no statistical association with other pathologies. The most frequent diseases found were obesity (3.62%) and attention deficit syndrome (3.62%). CONCLUSION: The pilomatrixoma is a tumor that appears predominantly in the head and neck, and has a difficult clinical diagnosis. Complete removal is curative, although it does not prevent the appearance of new lesions.

OBJETIVO: Describir nuestra experiencia con pilomatrixomas, examinando la presentación clínica, acierto clínico, enfermedades asociadas y tratamiento quirúrgico. MATERIAL Y METODOS: Estudio retrospectivo de los pacientes con diagnóstico anatomo-patológico (AP) de pilomatrixoma, en el periodo de 2011 a 2014. Se recopilaron datos sobre genero, edad de intervención, número de tumoraciones, tamaño, localización, diagnóstico preoperatorio, anatomía patológica, reintervenciones y patología asociada. Se realizó el análisis estadístico con EPIinfo 7.1.5. RESULTADOS: Se extirparon un total de 151 tumores en 138 pacientes, excluyendo 25 tumoraciones por tener diagnóstico clínico de pilomatrixoma sin confirmación patológica. Los 126 casos que tienen confirmación AP de pilomatrixoma tienen una edad media de exéresis de 8,26 años de edad (1-14 años) y el 50,72% son del género masculino. El 97% de los tumores se localizan por encima del ombligo, concentrándose en la cabeza y cuello el 52,9%. La sospecha clínica corresponde con AP en el 69,05%. De los casos confirmados, los diagnósticos clínicos diferenciales más frecuentes son lesión quística (11,90%) y quiste dermoide (10,22%); no hubo pilomatrixomas con degeneración maligna. La media de diámetro es de 1,13 cm, no hubo recidivas locales, pero sí 11 nuevos casos de pilomatrixomas en otra localización. No hay asociación estadísticamente significativa a otras patologías. Las enfermedades más frecuentes encontradas son la obesidad (3,62%) y el síndrome de déficit de atención (3,62%). CONCLUSION: El pilomatrixoma es una tumoración predominantemente de aparición en cara y cuello, de difícil diagnóstico clínico. La exéresis completa es curativa, aunque no previene la aparición de nuevas lesiones.