ABSTRACT
[This corrects the article DOI: 10.3389/fped.2021.662669.].
ABSTRACT
INTRODUCTION: Constipation has classically been considered as a risk factor of enuresis, although there are increasingly more publications that report a similar prevalence of constipation in both enuretics and non-enuretics. OBJECTIVE: To determine the influence of constipation in monosymptomatic and non-monosymptomatic enuresis, and to find out the prevalence of the three disorders, as well as the lower urinary tract dysfunction and bladder-bowel dysfunction in the population. MATERIAL AND METHOD: A cross-sectional observational prevalence study on a representative population sample of 5-9 year-old school boys and girls of Galicia, Spain. A questionnaire was completed in the schools on urinary and bowel habits, which included questions from the Paediatric Lower Urinary Tract Scoring System (PLUTSS) diagnostic questionnaire and grading of the lower urinary tract dysfunctions. The enuresis was diagnosed using the International Children's Continence Society (ICSS), and if it was also associated with diurnal symptoms, it was also classified as non-monosymptomatic enuresis. The constipation was evaluated using the Rome III criteria and the adapted Bristol stool scale. RESULTS: A total of 772 questionnaires were included in the study. The prevalence of constipation was 20% and that of enuresis was 9.1% (62.9% monosymptomatic enuresis and 37.1% non-monosymptomatic), with the prevalence of bladder-bowel dysfunction being 5.2%. It was observed that constipation had no influence on the presence of monosymptomatic enuresis, but it did have an influence on non-monosymptomatic enuresis and lower urinary tract dysfunctions, where it was a significant risk factor. CONCLUSIONS: The differential diagnosis between monosymptomatic and non-monosymptomatic enuresis is essential in the initial evaluation of the patient with enuresis, since the therapeutic management and the characteristics of both disorders are different, with constipation only being a risk factor in cases of non-monosymptomatic enuresis.
Subject(s)
Constipation , Nocturnal Enuresis , Urinary Incontinence , Child , Child, Preschool , Constipation/complications , Constipation/diagnosis , Cross-Sectional Studies , Female , Humans , Male , Nocturnal Enuresis/diagnosis , Spain , Urinary BladderABSTRACT
Introducción: Clásicamente se ha considerado el estreñimiento como un factor de riesgo de la enuresis, aunque cada vez hay más publicaciones que reportan una prevalencia de estreñimiento similar en enuréticos y no enuréticos. Objetivo: Determinar la influencia del estreñimiento en la enuresis monosintomática y la no monosintomática y conocer la prevalencia de las 3 entidades así como de disfunciones del trato urinario inferior y disfunción vesicointestinal en la población. Material y método: Estudio observacional transversal de prevalencia sobre una muestra representativa de la población gallega de niños y niñas escolarizados de 5 a 9años. Se realizó una encuesta en los colegios sobre hábitos miccionales e intestinales que incluía las preguntas del cuestionario Paediatric Lower Urinary Tract Scoring System (PLUTSS) de diagnóstico y graduación de las disfunciones del tracto urinario inferior. Se consideró la enuresis según los criterios de la Sociedad Internacional para la Continencia en Niños (ICSS), y si además asociaba sintomatología diurna, se clasificó como enuresis no monosintomática. El estreñimiento se valoró de acuerdo con los criterios Roma III y la escala de heces de Bristol adaptados. Resultados: Se incluyeron 772 encuestas en el estudio. La prevalencia de estreñimiento fue del 20%, la de enuresis del 9,1% (enuresis monosintomática 62,9% y no monosintomática 37,1%) y la de disfunción vesicointestinal del 5,2%. Observamos que el estreñimiento no influye en la presencia de enuresis monosintomática, pero sí en la enuresis no monosintomática y las disfunciones del trato urinario inferior, donde constituye un importante factor de riesgo. (AU)
Introduction: Constipation has classically been considered as a risk factor of enuresis, although there are increasingly more publications that report a similar prevalence of constipation in both enuretics and non-enuretics. Objective: To determine the influence of constipation in monosymptomatic and non-monosymptomatic enuresis, and to find out the prevalence of the three disorders, as well the lower urinary tract dysfunction and bladder-bowel dysfunction in the population. Material and method: A cross-sectional observational prevalence study on a representative population sample of 5 to 9 year-old school boys and girls of Galicia, Spain. A questionnaire was completed in the schools on urinary and bowel habits, which included questions from the Paediatric Lower Urinary Tract Scoring System (PLUTSS) diagnostic questionnaire and grading of the lower urinary tract dysfunctions. The enuresis was diagnosed using the International Children's Continence Society (ICSS), and if it was also associated with diurnal symptoms, it was also classified as non-monosymptomatic enuresis. The constipation was evaluated using the Rome III criteria and the adapted Bristol stool scale. Results: A total of 772 questionnaires were included in the study. The prevalence of constipation was 20% and that of enuresis was 9.1% (62.9% monosymptomatic enuresis and 37.1% non-monosymptomatic), with the prevalence of bladder-bowel dysfunction being 5.2%. It was observed that constipation had no influence on the presence of monosymptomatic enuresis, but it did have an influence on non-monosymptomatic enuresis and lower urinary tract dysfunctions, where it was a significant risk factor. (AU)
Subject(s)
Humans , Child , Health Sciences , Enuresis , Constipation , Fecal Incontinence , Surveys and Questionnaires , Cross-Sectional Studies , Diurnal Enuresis , Nocturnal EnuresisABSTRACT
Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH patients are either clinical depictions of a case (or a case series), descriptions of their genetic background, or a tentative correlation of both clinical and molecular findings. Treatment for POH is rarely addressed, and POH still lacks therapeutic options. We describe a unique case of POH in two monochorionic twins, who presented an almost asymptomatic vs. the severe clinical course, despite sharing the same mutation and genetic background. We also report the results of the therapeutic interventions currently available for heterotopic ossification in the patient with the severe course. This article not only critically supports the assumption that the POH course is strongly influenced by factors beyond genetic background but also remarks the lack of options for patients suffering an orphan disease, even after testing drugs with promising in vitro results.
ABSTRACT
Objetivo: En los últimos años, numerosos estudios se han centrado en la genética del sistema renal. Betchel et al. en 2010, demostraron como la metilación, fenómeno epigenético, estaría implicado en la perpetuación de la fibrosis. En nuestro estudio queremos demostrar si la epigenética tiene relación con la estenosis pieloureteral y en caso de ser así, si podría ser utilizada como material pronóstico y diagnóstico. Material y métodos: Se ha realizado un estudio descriptivo observacional o transversal en el que se analizó la metilación en el ADN extraído de las muestras de unión pieloureteral en pacientes pediátricos obtenidas durante la cirugía entre 1999 y 2015, resultando un total de 20 pacientes. Los datos clínicos-radiológicos se analizaron según correlación y agrupación de los mismos mediante un paquete software filogenético/estadístico denominado PHYLIP de acceso libre gratuito. Los genes seleccionados sobre los que se realizó la PCR específica de metilación (MSP) fueron: p16, RASSF1A, MGMT, Ciclina D-2, HIN-1, E-Cadherina y RASAL-1. Resultados: Los datos clínico-radiológicos analizados filogenéticamente mediante el programa PHYLIP establecieron 7 grupos de pacientes. Los resultados con respecto a la metilación mostraron una proporción considerable de metilación aberrante en la región del promotor de los genes p16 (25%), MGMT (15%), E-Cadherina (25%),HIN-1 (25%) y RASAL-1 (35%). Se analizó la asociación de los grupos clínico-radiológicos con los estados de metilación/no metilación de cada gen. Conclusiones: Se demuestra que la metilación sí tiene un papel en la fibrosis desarrollada en la estenosis pieloureteral destacando dos patrones clínicos de mal pronóstico asociados a dos clusters epigenéticos de metilación. RASAL-1, E-Cadherina, HIN-1 y p16 serían los candidatos para desarrollar estudios futuros sobre sus implicaciones pronósticas en la estenosis pieloureteral
Objective: In the last few years, numerous studies have focused on the genetics of the renal system. Betchel et al in 2010 demonstrated that methylation, as a epigenetic phenomenon, would be involved in the perpetuation of fibrosis. In our study, we want to demonstrate whether epigenetics is related to pyeloureteral stenosis and, if that is the case, if it could be used as prognostic and diagnostic biomarker. Methods: This is a descriptive observational and cross-sectional study that analyzed the methylation in DNA extracted from pyeloureteral junction samples obtained from surgery in pediatric patients in the period from 1999 to 2015, resulting in a total of 20 patients. Clinical data were analyzed using correlation tests and they were grouped with a free access software statistical phylogenetic package called PHYLIP. The selected genes for methylation-specific PCR (MSP) were the following: p16, RASSF1A, MGMT, Cyclin D-2, HIN-1, E-Cadherin and RASAL-1. Results: The clinical-radiological data analyzed phylogenetically by the PHYLIP program established 7 groups of patients. The results of methylation showed a considerable proportion of aberrant methylation in the promotor region of the genes p16 (25%), MGMT (15%), E-Cadherin (25%), HIN-1 (25%) and RASAL-1 (35%). The association of the clinical-radiological groups with methylation/non-methylation states of each gene was also analyzed. Conclusions: This study demonstrates that methylation does have a role in fibrosis developed in pyeloureteral stenosis. Two clinical patterns of poor prognosis associated with two epigenetic methylation cluster. RASAL-1, E-Cadherin, HIN-1 and p16 would be candidates for future studies on their prognostic implications in pyeloureteral stenosis
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , DNA Methylation/genetics , Epigenesis, Genetic/genetics , Promoter Regions, Genetic/genetics , Tumor Suppressor Proteins/genetics , Ureteral Obstruction/diagnosis , Constriction, Pathologic/diagnosis , Constriction, Pathologic/genetics , Cross-Sectional Studies , Genetic Markers , Phylogeny , PrognosisABSTRACT
OBJECTIVE: In the last few years, numerous studies have focused on the genetics of the renal system. Betchel et al in 2010 demonstrated that methylation, as a epigenetic phenomenon, would be involved in the perpetuation of fibrosis. In our study, we want to demonstrate whether epigenetics is related to pyeloureteral stenosis and, if that is the case, if it could be used as prognostic and diagnostic biomarker. METHODS: This is a descriptive observational and cross-sectional study that analyzed the methylation in DNA extracted from pyeloureteral junction samples obtained from surgery in pediatric patients in the period from 1999 to 2015, resulting in a total of 20 patients. Clinical data were analyzed using correlation tests and they were grouped with a free access software statistical phylogenetic package called PHYLIP. The selected genes for methylation-specific PCR (MSP) were the following: p16, RASSF1A, MGMT, Cyclin D-2, HIN-1, E-Cadherin and RASAL-1. RESULTS: The clinical-radiological data analyzed phylogenetically by the PHYLIP program established 7 groups of patients. The results of methylation showed a considerable proportion of aberrant methylation in the promotor region of the genes p16 (25%), MGMT (15%), E-Cadherin (25%), HIN-1 (25%) and RASAL-1 (35%). The association of the clinical-radiological groups with methylation/non-methylation states of each gene was also analyzed. CONCLUSIONS: This study demonstrates that methylation does have a role in fibrosis developed in pyeloureteral stenosis. Two clinical patterns of poor prognosis associated with two epigenetic methylation cluster. RASAL- 1, E-Cadherin, HIN-1 and p16 would be candidates for future studies on their prognostic implications in pyeloureteral stenosis.
OBJETIVO: En los últimos años, numerosos estudios se han centrado en la genética del sistema renal. Betchel et al. en 2010, demostraron como la metilación, fenómeno epigenético, estaría implicado en la perpetuación de la fibrosis. En nuestro estudio queremos demostrar si la epigenética tiene relación con la estenosis pieloureteral y en caso de ser así, si podría ser utilizada como material pronóstico y diagnóstico. MATERIAL Y MÉTODOS: Se ha realizado un estudio descriptivo observacional o transversal en el que se analizó la metilación en el ADN extraído de las muestras de unión pieloureteral en pacientes pediátricos obtenidas durante la cirugía entre 1999 y 2015, resultando un total de 20 pacientes. Los datos clínicos-radiológicos se analizaron según correlación y agrupación de los mismos mediante un paquete software filogenético/estadístico denominado PHYLIP de acceso libre gratuito. Los genes seleccionados sobre los que se realizó la PCR específica de metilación (MSP) fueron: p16, RASSF1A, MGMT, Ciclina D-2, HIN-1, E-Cadherina y RASAL-1. RESULTADOS: Los datos clínico-radiológicos analizados filogenéticamente mediante el programa PHYLIP establecieron 7 grupos de pacientes. Los resultados con respecto a la metilación mostraron una proporción considerable de metilación aberrante en la región del promotor de los genes p16 (25%), MGMT (15%), E-Cadherina (25%),HIN-1 (25%) y RASAL-1 (35%). Se analizó la asociación de los grupos clínico-radiológicos con los estados de metilación/no metilación de cada gen. CONCLUSIONES: Se demuestra que la metilación sí tiene un papel en la fibrosis desarrollada en la estenosis pieloureteral destacando dos patrones clínicos de mal pronóstico asociados a dos clusters epigenéticos de metilación. RASAL-1, E-Cadherina, HIN-1 y p16 serían los candidatos para desarrollar estudios futuros sobre sus implicaciones pronósticas en la estenosis pieloureteral.
Subject(s)
DNA Methylation , Epigenesis, Genetic , Constriction, Pathologic , Cross-Sectional Studies , Humans , Phylogeny , Prognosis , Promoter Regions, Genetic , Tumor Suppressor ProteinsABSTRACT
No disponible
Subject(s)
Humans , Male , Child , Castleman Disease/complications , Castleman Disease/diagnosis , Castleman Disease/pathology , Castleman Disease/drug therapy , Castleman Disease/surgerySubject(s)
Glioma , Nose Neoplasms , Adult , Female , Fetal Diseases/diagnostic imaging , Fetus/diagnostic imaging , Glioma/diagnostic imaging , Glioma/surgery , Humans , Infant, Newborn , Magnetic Resonance Imaging , Male , Nose Neoplasms/diagnostic imaging , Nose Neoplasms/surgery , Pregnancy , Prenatal Diagnosis , Ultrasonography, PrenatalSubject(s)
Castleman Disease , Castleman Disease/diagnosis , Castleman Disease/surgery , Child , Humans , Male , NeckABSTRACT
BACKGROUND: Perineal groove is a rare congenital malformation that is unknown to many clinicians and is often misdiagnosed. Although it may be self-resolving during childhood, this nonepithelized mucous membrane can pose the risk of local irritation and infection, particularly urinary tract infection. METHODS: A retrospective study of female infants diagnosed with a perineal groove was performed, demographic characteristics and clinical features were analyzed, and a photographic review was conducted. RESULTS: Five patients with perineal groove were observed in our clinic in 2015-16. The mean age was 14 months. None had symptoms, and no treatment was required. During follow-up of 1 year, all remained asymptomatic. CONCLUSIONS: Our retrospective review suggests that perineal groove may be an underdiagnosed condition. Most cases resolve spontaneously, but confusion in diagnosis may lead to misdiagnosis or misinterpretation of sexual abuse and unnecessary treatments.
Subject(s)
Perineum/abnormalities , Female , Humans , Infant , Male , Retrospective StudiesABSTRACT
OBJECTIVES: Lower Urinary Tract Dysfunction (LUTD) is the most common clinical problem in pediatric urology. To our knowledge non-validated instruments properly designed to screen lower urinary tract symptoms in the pediatric population has been translated and adapted to Spanish population. Pediatric Lower Urinary Tract Symptoms Score (PLUTSS) has proven to be a valid questionnaire for screening and evaluation of the response of children with LUTD to therapy. The aim of this study was to validate the PLUTSS questionnaire into Spanish, and put it to clinical use in pediatric patients, with cross-cultural equivalence to the original version. METHODS: The PLUTSS questionnaire was validated between February 2015 and February 2016. The Spanish version was obtained by using the forward/ back-translation method with expert, bilingual translator, complying with the ISPOR principles. The questionnaire was administered to 80 patients with either lower urinary tract symptoms (40) or without any urological complaints (40). A descriptive statistical analysis of interscale correlation was performed. To confirm reliability, testretest reliability was assessed by intra-class correlation coefficient, and the internal consistency was assessed by Cronbach's alpha coefficient. ROC curve was used to define cutpoint and its validity in discrimination between groups. RESULTS: The median of the two groups was significantly different: 20.53 (patients with LUTD) vs 3.27 (controls). Internal consistence of the 13-item scale (without quality of life item) was high: Cronbach alpha coefficient 0.827. The test-retest analysis of reproducibility showed an intra-class correlation coefficient of 0.997 (95%IC: 0.994-0.999) (p<0.0001). CONCLUSIONS: The Spanish version of the PLUTSS questionnaire has proven to be acceptable and culturally equivalent to the original version. It has a good degree of consistency, validity and reliability. PLUTSS showed a high power to discriminate patients with LUTD.
Subject(s)
Diagnostic Self Evaluation , Lower Urinary Tract Symptoms/diagnosis , Case-Control Studies , Child , Child, Preschool , Cultural Characteristics , Humans , TranslationsABSTRACT
OBJETIVO: Las Malfunciones del Tracto Urinario Inferior (MTUI) constituyen la patología más frecuente en urología pediátrica. En la actualidad no existe ninguna escala validada para el screening de síntomas del tracto urinario inferior que haya sido traducida y adaptada a la población pediátrica española. La Escala de Síntomas del Tracto Urinario inferior (PLUTSS) ha probado ser un instrumento válido para diagnosticar y monitorizar la respuesta al tratamiento de los niños con MTUI. El objetivo de este estudio es traducir al español y validar el cuestionario PLUTSS adaptándolo culturalmente a la población pediátrica española. MÉTODOS: Estudio descriptivo de validación del cuestionario PLUTSS realizado entre Febrero de 2015 y Febrero de 2016. La versión española se creó mediante el método de traducción-retraducción con traductores expertos bilingües y siguiendo los Principios de la ISPOR (International Society for Pharmacoeconomics and Outcomes Research). El cuestionario fue entregado a 80 pacientes, 40 de ellos con sintomatología del tracto urinario inferior y otros 40 sin ninguna patología urológica. Se realizó un estudio estadístico descriptivo de correlación de escala. Para comprobar la validez de la escala se estudio la fiabilidad del test-retest mediante el coeficiente de correlación de intraclase. La consistencia interna se evaluó con el coeficiente alfa de Cronbach. Se usó además la curva ROC para definir el punto de corte y su validez para discriminar entre los dos grupos de pacientes. RESULTADOS: Hubo diferencias estadísticamente significativas entre las medias de ambos grupos: 20,53 (en los pacientes con MTUI) frente a 3,27 (en los controles). La consistencia interna de los 13 ítems de la escala (sin la pregunta de calidad de vida) fue alta: Coeficiene alfa de Cronbach=0,827. El análisis del test-retest mostró un coeficiente de correlación de intraclase de 0,997 (95% IC: 0,994-0,999) (p < 0,0001). CONCLUSIONES: La versión española del cuestionario PLUTSS ha probado ser aceptable y culturalmente equivalente a la versión original. Esta escala tiene un nivel bueno de consistencia, validez y aplicabilidad. Además la escala PLUTSS ha mostrado un alto poder para detectar pacientes con MTUI
OBJECTIVES: Lower Urinary Tract Dysfunction (LUTD) is the most common clinical problem in pediatric urology. To our knowledge non-validated instruments properly designed to screen lower urinary tract symptoms in the pediatric population has been translated and adapted to Spanish population. Pediatric Lower Urinary Tract Symptoms Score (PLUTSS) has proven to be a valid questionnaire for screening and evaluation of the response of children with LUTD to therapy. The aim of this study was to validate the PLUTSS questionnaire into Spanish, and put it to clinical use in pediatric patients, with cross-cultural equivalence to the original version. METHODS: The PLUTSS questionnaire was validated between February 2015 and February 2016. The Spanish version was obtained by using the forward/ back-translation method with expert, bilingual translator, complying with the ISPOR principles. The questionnaire was administered to 80 patients with either lower urinary tract symptoms (40) or without any urological complaints (40). A descriptive statistical analysis of interscale correlation was performed. To confirm reliability, test-retest reliability was assessed by intra-class correlation coefficient, and the internal consistency was assessed by Cronbach ́s alpha coefficient. ROC curve was used to define cutpoint and its validity in discrimination between groups. RESULTS: The median of the two groups was significantly different: 20.53 (patients with LUTD) vs 3.27 (controls). Internal consistence of the 13-item scale (without quality of life item) was high: Cronbach alpha coefficient 0.827. The test-retest analysis of reproducibility showed an intraclass correlation coefficient of 0.997 (95% IC: 0.994-0.999) (p < 0.0001).CONCLUSIONS: The Spanish version of the PLUTSS questionnaire has proven to be acceptable and culturally equivalent to the original version. It has a good degree of consistency, validity and reliability. PLUTSS showed a high power to discriminate patients with LUTD
Subject(s)
Humans , Male , Female , Aged , Urinary Tract Physiological Phenomena , Urologic Diseases/diagnosis , Urinary Incontinence/diagnosis , Nocturnal Enuresis/diagnosis , Symptom Assessment/instrumentation , Reproducibility of Results , Reproducibility of Results , Case-Control StudiesABSTRACT
One of the most controversial aspects of hypospadias surgery is the election of an appropriate wound dressing. In fact, there may be as many different types of dressing as there are types of surgical repair. Here, we describe a new, simple method for hypospadias dressing in children that minimizes painful removal.
Subject(s)
Duodenum/injuries , Wounds, Nonpenetrating/etiology , Animals , Child , Hoof and Claw , Horses , Humans , Male , RuptureABSTRACT
Prolapse of a cecoureterocele through the urethra presenting as a prenatal vulval mass is an extremely uncommon entity. We present a case of a newborn girl with a cecoureterocele extending through the urethra (diagnosed at 29 weeks' gestation) and we present its postnatal findings and outcomes.
ABSTRACT
No disponible
