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1.
Cir Pediatr ; 31(3): 146-152, 2018 Aug 03.
Artigo em Espanhol | MEDLINE | ID: mdl-30260108

RESUMO

OBJECTIVES: To assess the utility of a new modality of video-urodynamic for study of lower urinary tract dysfunction and other uropathies in kids, replacing voiding cystourethrography by echo-enhanced cystosonography, without ionizing radiations. MATERIAL AND METHODS: Prospective study with simultaneous performance of filling cystometry and cystosonography in 43 kids during the last two years. The sonographic contrast was infused trough the urodynamic catheter. RESULTS: 18 girls and 25 boys, with an average age of 6.18 years (between 2 months and 14 years). The most frequent indication was micturition disfunction in boys and vesicoureteral reflux follow-up in girls. 60,5% presented urodynamic alterations, predominating low bladder accommodations (N = 9), mixed detrusor overactivity (N = 5) and bladder sphincter dyssynergia (N = 4). 15 children had vesicoureteral reflux: 8 passive, 5 active (associated with contractile activity of the detrusor or in the voiding phase) and two mixed. Urethral pathology was seen in two males (urethral valves and stenosis) and two girls (spinning top urethra). A statistically significant relationship was found between the presence of vesicoureteral reflux and other variables: bladder capacity (t = 4.98; p <0.005), detrusor activity (t = 3; p = 0.005), sex (t = 2.543; p = 0.015) and high post-void residual volume (t = 3.75; p <0.005), so that it was more frequent in girls with big bladders, with detrusor activity and high post-void residue. CONCLUSIONS: Cystosonography can replace conventional cystourethrography as an imaging test associated with urodynamics. With this type of exploration we have been able to indicate the treatment to our patients, subjecting them to a single catheterization and without exposing them to ionizing radiation.


OBJETIVOS: Valorar la utilidad de una nueva modalidad de videourodinamia sin radiaciones ionizantes en el estudio de disfunciones miccionales y otras uropatías en niños, sustituyendo cistouretrografía miccional seriada por cistosonografía o urosonografía miccional. MATERIAL Y METODOS: Estudio prospectivo con realización simultánea de cistomanometría de llenado y cistosonografía en 43 niños durante los dos últimos años. El contraste sonográfico fue infundido a través del catéter de urodinamia. RESULTADOS: 18 niñas y 25 niños, con edades de entre 2 meses y 14 años (media de 6,18 años). La indicación más frecuente en los varones fue disfunción miccional y en las niñas seguimiento de reflujo. El 60,5% presentaba alteraciones urodinámicas, predominando baja acomodación vesical (N = 9), hiperactividad del detrusor mixta (N = 5) y disinergia vésico-esfinteriana (N = 4). 15 niños tenían reflujo: 8 pasivos, 5 activos (asociados a actividad contráctil del detrusor o en fase miccional) y dos mixtos. Se vio patología uretral en dos varones (valvas de uretra posterior y estenosis uretral) y dos niñas (uretra en peonza). Se encontró relación estadísticamente significativa entre presencia de reflujo vesicoureteral y otras variables: capacidad vesical (t = 4,98; p <0,005), actividad del detrusor (t = 3; p = 0,005), sexo (t = 2,553; p = 0,015) y residuo postmiccional alto (t = 3,75; p <0,005), siendo más frecuente en niñas con vejigas grandes, con actividad del detrusor y residuo postmiccional alto. CONCLUSIONES: La UMS puede sustituir a la cistouretrografía convencional como prueba de imagen asociada a la urodinamia. Con este tipo de exploración hemos podido indicar un tratamiento a nuestros pacientes, sometiéndolos a un único sondaje y sin exponerlos a radiaciones ionizantes.


Assuntos
Transtornos Urinários/diagnóstico , Urodinâmica , Doenças Urológicas/diagnóstico , Refluxo Vesicoureteral/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Ultrassonografia/métodos , Doenças Uretrais/diagnóstico , Doenças Uretrais/epidemiologia , Bexiga Urinária Hiperativa/diagnóstico , Bexiga Urinária Hiperativa/epidemiologia , Transtornos Urinários/epidemiologia , Doenças Urológicas/epidemiologia , Doenças Urológicas/fisiopatologia , Refluxo Vesicoureteral/epidemiologia , Gravação em Vídeo
2.
Cir Pediatr ; 37(2): 50-54, 2024 Apr 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38623796

RESUMO

INTRODUCTION: The course in Primary Care in Pediatric Trauma (ATIP in Spanish) has been taught in Spain since 1997, and there are currently 9 accredited training centers. Care of polytraumatized pediatric patients often takes place in an environment conducive to errors resulting from forgetfulness, which is why checklists - mnemonic tools widely used in industry and medicine - are particularly useful to avoid such errors. Although several checklists exist for pediatric trauma care, none have been developed within the setting of our course. MATERIALS AND METHODS: The criteria for being selected as an expert in Primary Care in Pediatric Trauma were agreed upon with the scientific polytrauma committee of the Spanish Pediatric Surgery Society. The items that make up the checklist were obtained from a review of the literature and consultation with selected experts, using the Delphi Technique. RESULTS: 10 experts representing the 9 groups or training centers in Primary Care in Pediatric Trauma were selected, and a 28-item checklist was drawn up in accordance with their design recommendations. CONCLUSIONS: With the consensus of all the groups, a checklist for the treatment of polytraumatized pediatric patients was drawn up using the Delphi Technique, an essential requirement for the dissemination of this checklist, which should be adapted and validated for use in each healthcare center.


INTRODUCCION: El curso de Asistencia Inicial al Trauma Pediátrico se imparte en España desde 1997, existiendo en la actualidad 9 centros formadores acreditados. La asistencia al paciente pediátrico politraumatizado se produce muchas veces en un ambiente proclive al error por olvido, por lo que las listas de verificación, como herramientas mnemotécnicas de amplia difusión en la industria y en medicina, serían especialmente útiles para evitarlos. Aunque existen varias listas de verificación para la asistencia al traumatismo pediátrico, ninguna se ha desarrollado en el entorno de nuestro curso. MATERIAL Y METODOS: Se acordaron los criterios para ser seleccionado como experto en Asistencia Inicial al Trauma Pediátrico con la comisión científica de politrauma de la Sociedad Española de Cirugía Pediátrica. Los ítems para formar la lista de verificación se obtuvieron a partir de una revisión bibliográfica y de la consulta a los expertos seleccionados, empleando un método Delphi. RESULTADOS: Se seleccionaron 10 expertos que representan los 9 grupos o centros formadores en Asistencia Inicial al Trauma Pediátrico y se elaboró una lista de verificación con 28 ítems, siguiendo sus recomendaciones de diseño. CONCLUSIONES: Se diseñó una lista de verificación para el manejo del paciente pediátrico politraumatizado, con el consenso de todos los grupos empleando un método Delphi, requisito fundamental para facilitar la difusión de esta lista. Sería preciso adaptar y validar dicha lista para su uso en cada centro asistencial.


Assuntos
Lista de Checagem , Traumatismo Múltiplo , Humanos , Criança , Técnica Delphi , Consenso , Atenção Primária à Saúde
3.
Genet Mol Res ; 12(4): 4630-8, 2013 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-24222239

RESUMO

It has been reported that patients with Down syndrome (DS) frequently develop transient myeloproliferative disorder (TMD) and less commonly myeloid leukemia in DS (ML-DS). We examined the pathogenetic relationship of these conditions with somatic mutations of the GATA1 gene in children with both TMD and ML-DS. To determine the incidence of GATA1 mutations in a cohort of DS patients and the applicability of these mutations as a clonal marker to detect minimal residual disease, we screened 198 samples of 169 patients with DS for mutations in GATA1 exon 2 by direct sequencing. Novel mutations were detected in four of the 169 DS patients (2 with TMD and 2 with ML-DS). We examined spontaneous remission and response to therapy in TMD and ML-DS patients and concluded that these mutations can be used as stable markers in PCR analysis to monitor these events.


Assuntos
Síndrome de Down/genética , Mutação da Fase de Leitura , Fator de Transcrição GATA1/genética , Leucemia Mieloide/genética , Transtornos Mieloproliferativos/genética , Sequência de Bases , Análise Mutacional de DNA , Síndrome de Down/tratamento farmacológico , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Leucemia Mieloide/tratamento farmacológico , Masculino , Transtornos Mieloproliferativos/tratamento farmacológico , Resultado do Tratamento
4.
Cir Pediatr ; 25(1): 46-52, 2012 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-23113413

RESUMO

UNLABELLED: Invasive imaging methods that require catheterization are used for the diagnosis of vesicoureteral reflux. Our aim is to assess the usefulness of interleukin urinary levels for the diagnosis of reflux in children without urinary tract infection. METHODS: Case-control study in children who underwent a voiding cystourethrogram: forty cases diagnosed of reflux and 80 controls. Concentrations of IL-1beta, IL-6 and IL-8 related to creatinine levels (pg/micromol) were determined in urine samples in all. RESULTS: Sixty-two patients were males and fifty-eight females, with a mean age of 2.4 years. Indications for cystography were previous urinary tract infection in 78 cases (65%), prenatal diagnosis in 24 cases (20%) and postnatal diagnosis of uropathy or family history in 18 cases (15.1%). No significant differences were observed between cases and controls in IL-1beta/creatinine and IL-6/creatinine levels. However, IL-8/creatinine levels were almost significant higher in case group (median 3.5 pg/micromol; SD 9.2) than in control group (median 1.54 pg/micromol; SD 3) (P=0.001). The odds ratio was 5.57 (CI95%: 1.51 a 20.60) (X(MH)=2.80; p=0.005). CONCLUSIONS: Urinary levels of IL-8/creatinine are elevated in children with vesicoureteral reflux, even in absence of urinary tract infection. It could be used as a non-invasive marker for detection of subclinical cases of disease.


Assuntos
Interleucinas/urina , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/urina , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
5.
Cir Pediatr ; 24(4): 232-6, 2011 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-23155638

RESUMO

The retroperitoneal laparoscopic approach is displacing open surgery and transperitoneal approach for several benign renal conditions. In the past 6 years we have performed 20 procedures, 10 with lateral position and 10 with posterior prone one: 13 total nephrectomies and 7 heminephrectomies in children aged 4,1 years on average. Mean operative time was 200 minutes in partial procedures and 278 in the total ones. Oral feeding was restored to 11,4 hours and average hospital postoperative stay was 1,58 days in total nephrectomies and 2,18 in heminephrectomies. There was no intraoperative bleeding. Complications were two urine leaks, two infections due to residual ureteral stumps and a case of transient hematuria. There were no significant differences between posterior and lateral approaches as to hospital stay, time of onset of oral feeding or complications, although the average operative time was shorter in the posterior approach (mean 170 min, SD 17,3) than in the lateral one (mean 216 min, SD 41) (P=0,024) in total nephrectomies. Retroperitoneoscopy allows a safe access to the kidney and avoids morbidity associated with the transperitoneal access. The posterior approach provides better vascular control, maintains the peritoneum far and allows the procedure with fewer ports, maximizing work space.


Assuntos
Laparoscopia/métodos , Nefrectomia/métodos , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Espaço Retroperitoneal
6.
Cir Pediatr ; 24(3): 142-5, 2011 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-22295654

RESUMO

Necrotizing enterocolitis (NEC) and isolated intestinal perforation (IP) are common diseases in very low birth weight infants (VLBW) and require surgery in 20-40% of cases. We have performed a retrospective review of VLBW infants with NEC or IP who underwent a surgical procedure between 2000 and 2010, either initial laparotomy (group 1), peritoneal drain placement and subsequent laparotomy (group 2) or peritoneal drainage (group 3). Of 487 VLBW infants admitted to our hospital in the last ten years, 80 patients had NEC or IP, out of these, 31% (n=25) were treated surgically. The study population consisted of 14 girls and 11 boys with a mean gestational age of 26+3 weeks and mean birth weight of 801.4 g (range 460 to 1490 g). Pneumoperitoneum was seen in 48% of cases (n=12). Twelve patients underwent initial laparotomy, 10 patients were treated with peritoneal drainage and subsequent laparotomy and in 3 patients a peritoneal drainage was placed. Mean time between drainage and laparotomy was 69.6 hours. Sixty-eight percent of patients had NEC and thirty-two percent were IP. Survival rate was higher in the group who underwent initial laparotomy (p = 0.001) with an overall mortality of 32% (8 deaths). Optimal surgical procedure must be decided upon clinical condition of individual patients. We consider that initial laparotomy should be the treatment option in VLBW infants with intestinal perforation due to NEC or IP.


Assuntos
Enterocolite Necrosante/cirurgia , Doenças do Prematuro/cirurgia , Recém-Nascido de muito Baixo Peso , Perfuração Intestinal/cirurgia , Enterocolite Necrosante/diagnóstico , Enterocolite Necrosante/mortalidade , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/mortalidade , Perfuração Intestinal/diagnóstico , Perfuração Intestinal/mortalidade , Masculino , Estudos Retrospectivos , Taxa de Sobrevida
7.
Cir Pediatr ; 33(1): 36-42, 2020 Jan 20.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32166922

RESUMO

OBJECTIVES: Report our experience with the use of contrast-enhanced serial voiding urosonography (SVU) for posterior urethral valve (PUV) patient diagnosis and management. MATERIAL AND METHODS: Descriptive retrospective study in 0- to 14-year-old patients with suspected PUV at SVU performed as a first contrast-enhanced urinary tract test with subsequent cystoscopic study. Variables were analyzed using SPSSv22. RESULTS: 18 patients were studied (median age: 6 months). Most patients (15) presented posterior urethral dilatation (mean diameter: 9.56 mm) and a >2 mm gap between proximal and distal urethra. 13 cases had bladder thickening and 9 had VUR. 15 PUV cases, 1 case of distal urethral mucocele, and 1 case of bladder diverticulum obstructing the urethra were diagnosed. Complete PUV resection was performed in 10 patients (66.6%) at the first cystoscopy. The control SVU detected one case of recurrence due to persistence of posterior urethral dilatation. The recurrence case and the 5 incomplete resection cases were treated with a second cystoscopy and resection. The youngest patients required a third resection and cutting balloon dilatation due to residual stenosis. Mean creatinine levels at diagnosis were 0.28 mg/dl. CONCLUSIONS: Serial voiding urosonography (SVU) is a useful complementary test in pediatric patients with posterior urethral valve. Its dynamic nature and its advantages - absence of irradiation, safety, and high sensitivity - make it an ideal imaging test for PUV diagnosis and follow-up.


OBJETIVOS: Comunicar nuestra experiencia con la utilización de la urosonografía miccional seriada (UMS) para el diagnóstico y manejo de pacientes con válvulas de uretra posterior (VUP). MATERIAL Y METODOS: Estudio retrospectivo descriptivo en pacientes entre 0 a 14 años con sospecha de VUP en UMS realizada como primera prueba contrastada de la vía urinaria y con estudio cistoscópico posterior. Las variables se analizaron utilizando SPSSv22. RESULTADOS: Fueron estudiados 18 pacientes (edad mediana de 6 meses). La mayoría de los pacientes (15) presentaban dilatación de la uretra posterior (diámetro medio de 9,56 mm) y diferencia entre uretra proximal y distal mayor de 2 mm. Trece casos tenían engrosamiento vesical y 9 RVU. Se diagnosticaron 15 casos de VUP, 1 caso de mucocele de uretra distal y 1 divertículo vesical que obstruía uretra. Se consiguió resección completa de las VUP en 10 pacientes (66,6%) en la primera cistoscopia. La UMS de control detectó un caso de resección incompleta por persistencia de dilatación de uretra posterior. Este caso y los 5 conocidos con resección incompleta se sometieron a una segunda cistoscopia y resección. El menor de los pacientes requirió una tercera resección y dilatación con balón de corte por estenosis residual. La creatinina media al diagnóstico fue 0,28 mg/dl. CONCLUSIONES: La urosonografía miccional seriada (UMS) es una prueba complementaria útil en pacientes pediátricos con válvulas de uretra posterior. Su carácter dinámico y ventajas: ausencia de irradiación, seguridad y alta sensibilidad; la convierten en una prueba de imagen ideal para el diagnóstico y seguimiento de VUP.


Assuntos
Cistoscopia , Ultrassonografia/métodos , Uretra/anormalidades , Doenças Uretrais/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Meios de Contraste , Creatinina/sangue , Humanos , Lactente , Recém-Nascido , Masculino , Recidiva , Reoperação , Estudos Retrospectivos , Uretra/diagnóstico por imagem , Uretra/cirurgia , Doenças Uretrais/cirurgia , Micção
8.
Genet Mol Res ; 8(1): 345-53, 2009 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-19440970

RESUMO

Acute lymphoblastic leukemia (ALL) accounts for approximately 80% of all acute leukemias during childhood. Chromosomal anomalies resulting from gene fusion, which are frequent in leukemias, create hybrid transcripts, the great majority of which encode transcription factors. We analyzed 88 pediatric patients (median age 7.3 years) who had B-lineage acute lymphoblastic leukemia (B-ALL), using reverse transcriptase-polymerase chain reaction, to look for gene fusion transcripts of TEL/AML1, E2A/PBX1, BCR/ABL p190, and MLL/AF4. The frequencies of these transcripts were 21.21, 9.68, 3.03, and 0%, respectively. All positive cases had a common B-ALL immunophenotype. The low frequency of the TEL/AML1 transcript that is found in developing countries, such as Brazil, may be due to the low incidence of leukemia; this would support Greaves' hypothesis.


Assuntos
Aberrações Cromossômicas , Mutação , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Brasil , Linhagem da Célula , Criança , Bases de Dados Genéticas , Feminino , Humanos , Imunofenotipagem , Masculino , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo
9.
Cir Pediatr ; 22(3): 128-33, 2009 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-19957859

RESUMO

There is evidence that early varicocele treatment decreases testicular damage. The minimally invasive techniques such as laparoscopic varicocelectomy, antegrade sclerotherapy and percutaneous retrograde embolisation, are acquiring greater significance in the treatment of this disease. Since 1994, a series of 51 children, aged 7-16 years (mean, 12.9 years), with left-sided varicocele grades 2 (47%) and 3 (53%) were treated in our institution by percutaneous retrograde embolisation using coils. The right basilica vein was the most widely used (70%) followed by the right femoral vein. Seven children (13.7%) had complications: perforation of internal spermatic vein was the most frequent and treated conservatively. No child presented hydrocele after radiological procedures. Embolisation was accomplished succesfully at the first attempt in 35 (68.6%) of the 51 children and in 45 (88.2%) after a second embolisation. The follow-up ranges from 7 months to 5 ? years (mean, 1.8 years). The patients were monitored with clinical and doppler ultrasound examination 3, 6 and 12 months after the treatment. Retrograde embolisation is a safe and efficient minimally invasive treatment for correcting varicoceles in children. We performed retrograde embolisation as first choice of varicocele treatment in children; a second embolisation or conventional surgery for primary failure or late recurrence should be considered.


Assuntos
Embolização Terapêutica/métodos , Varicocele/terapia , Adolescente , Criança , Humanos , Masculino
10.
Cir Pediatr ; 32(2): 93-98, 2019 Apr 22.
Artigo em Espanhol | MEDLINE | ID: mdl-31056870

RESUMO

OBJECTIVES: To present our experience of 23 years in the treatment of varicocele by embolization in pediatric age. MATERIAL AND METHODS: Observational descriptive study of all patients with varicocele treated by embolization after phlebography, by indication of the pediatric surgery service between 1995 and 2017. We performed descriptive statistical analysis and comparison between pain and testicular asymmetry before and after treatment (SPSSv22). RESULTS: Embolization was performed in 113 patients with left varicocele. The mean age of diagnosis was 12.4 years (5.2-15.5). The main clinical manifestations were: incidental finding (46.7%), increase in scrotal volume (28%) and testicular pain (15.9%). 61.5% were grade 3 and 38.5% grade 2. The selective embolization procedure was performed at an average age of 13.6 years (8-18). There were no serious complications of the procedure or reactive hydrocele. The overall success rate of endovascular treatment was 93.8%. In 85 patients (75.2%) a single procedure was performed and in 21, two procedures (18.6%). Only 4 patients required surgical intervention. The pain disappeared in all cases in which it presented and the testicular asymmetry decreased from 44.7% pre-treatment to 21.2% post-treatment (p<0.05). CONCLUSIONS: Endovascular treatment through embolization allows a selective varicocele management, after venous mapping, with an adequate effectiveness, without altering the arterial flow of the testicle or producing hydrocele. It is a minimally invasive treatment that could be considered the first choice in varicoceles of children and adolescents.


OBJETIVOS: Presentar nuestra experiencia de 23 años en el tratamiento del varicocele mediante embolización en la edad pediátrica. MATERIAL Y METODOS: Estudio descriptivo observacional de todos los pacientes con varicocele tratados mediante embolización previa flebografía, por indicación del servicio de cirugía pediátrica entre los años 1995 a 2017. Realizamos análisis estadístico descriptivo y comparación entre dolor y asimetría testicular previa y posterior al tratamiento (SPSSv22). RESULTADOS: Se realizó embolización en 113 pacientes con varicocele izquierdo. La edad media de diagnóstico fue de 12,4 años (5,2-15,5). Las manifestaciones clínicas principales fueron: hallazgo incidental (46,7%), aumento de volumen escrotal (28%) y dolor testicular (15,9%). El 61,5% eran de grado 3 y el 38,5% de grado 2. El procedimiento de embolización selectiva se realizó a una edad media de 13,6 años (8-18). No se presentaron complicaciones graves del procedimiento ni hidrocele reactivo. En 85 pacientes (75,2%) se realizó un único procedimiento y en 21, dos procedimientos (18,6%). La tasa de éxito global del tratamiento endovascular fue de 93,8%. Solo 4 pacientes requirieron intervención quirúrgica. El dolor desapareció en todos los casos en que se presentaba y la asimetría testicular disminuyó del 44,7% pretratamiento al 21,2% postratamiento (p<0,05). CONCLUSIONES: El tratamiento endovascular mediante embolización permite un manejo selectivo del varicocele, previo mapeo venoso, con una adecuada efectividad, sin alterar el flujo arterial del testículo ni producir hidrocele. Es un tratamiento poco invasivo que se puede considerar de primera elección en varicoceles de niños y adolescentes.


Assuntos
Embolização Terapêutica/métodos , Varicocele/terapia , Adolescente , Criança , Pré-Escolar , Embolização Terapêutica/estatística & dados numéricos , Humanos , Masculino , Dor/etiologia , Escroto/patologia , Doenças Testiculares/etiologia , Fatores de Tempo
11.
Cir Pediatr ; 21(3): 181-4, 2008 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-18756874

RESUMO

Infected cystic duplications of the duodenum are unusual lesions. We report two cases of duodenal duplications complicated by infection. The literature is reviewed, and the diagnostic modalities and management options for this unusual pathology are discussed.


Assuntos
Abdome Agudo/etiologia , Duodenopatias/complicações , Duodeno/anormalidades , Infecções Estreptocócicas/complicações , Estreptococos Viridans , Pré-Escolar , Feminino , Humanos , Lactente
12.
Rev Neurol ; 45(12): 707-12, 2007.
Artigo em Espanhol | MEDLINE | ID: mdl-18075983

RESUMO

INTRODUCTION: Hirschsprung's disease (HD), or aganglionic megacolon, is a congenital disorder that is characterised by the absence of ganglion cells in the submucosal and myenteric plexuses of the intestine, which is caused by the failure of these cells to migrate from the neural crest (neurocristopathy). Cerebral dysgenesis and polymalformation syndromes have been reported in association with HD, thus suggesting an abnormal morphogenesis. AIM: To study the frequency of cerebral malformations in patients with HD in our environment. PATIENTS AND METHODS: We conducted a retrospective study of 41,666 live newborn infants, over the period 1993-2003, and 17 cases of HD where identified. RESULTS: The incidence of HD in the health district of the province of Albacete is 1.68 per 5,000 live newborn infants. Of the 17 patients with HD who were studied, 10 were isolated (58.8%) and seven (41.1%) were associated to other structural abnormalities and psychomotor retardation. Three of the cases in this latter group were due to chromosome pathology (trisomy 21, Down syndrome), two were caused by specific polymalformation syndromes (one Mowat-Wilson syndrome and one possible FG syndrome), one was due to a pattern of abnormalities that did not fit any known syndrome, and one had a normal phenotype and isolated cerebral dysgenesis. In all of cases the neuroimaging studies identified cerebral dysgenesis that was compatible with neuronal migration disorders. CONCLUSIONS: The frequency of association of HD, either isolated or within the context of a specific malformation syndrome, with neuronal migration disorders is high (23.5%). We suggest a full genetic and neurological evaluation should be carried out in patients with HD, together with brain imaging studies in order to rule out the possibility of cerebral dysgenesis.


Assuntos
Anormalidades Múltiplas/patologia , Encéfalo/anormalidades , Doença de Hirschsprung/patologia , Malformações do Desenvolvimento Cortical do Grupo II/patologia , Crista Neural/embriologia , Anormalidades Múltiplas/embriologia , Anormalidades Múltiplas/epidemiologia , Agenesia do Corpo Caloso , Encéfalo/embriologia , Linhagem da Célula , Movimento Celular , Síndrome de Down/embriologia , Síndrome de Down/patologia , Eletroencefalografia , Potenciais Evocados Auditivos do Tronco Encefálico , Feminino , Doença de Hirschsprung/embriologia , Doença de Hirschsprung/epidemiologia , Humanos , Incidência , Recém-Nascido , Masculino , Malformações do Desenvolvimento Cortical do Grupo II/embriologia , Malformações do Desenvolvimento Cortical do Grupo II/epidemiologia , Malformações do Desenvolvimento Cortical do Grupo II/fisiopatologia , Estudos Retrospectivos , Espanha/epidemiologia , Síndrome , Tetralogia de Fallot/embriologia , Tetralogia de Fallot/patologia
13.
Actas Urol Esp ; 40(3): 183-9, 2016 Apr.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-26748842

RESUMO

INTRODUCTION: In this series, we analyse the diagnostic efficacy of serial voiding urosonography (VUS) with second-generation contrast, combined harmoniously and specifically with contrast technology, in the examination of the urinary tract in children. This examination includes the diagnosis and follow-up for vesicoureteral reflux (VUR) and urethral disorders, mainly those of the posterior urethral valve (PUV). PATIENTS AND METHODS: After obtaining informed consent, a prospective study was conducted using urosonography with second-generation contrast (sulphur hexafluoride microbubbles, SonoVue®) from November 2014 to October 2015 (1 year) in paediatric patients with suspected VUR or PUV impairment. For patients with a high suspicion of VUR and in cases of PUV, we also conducted simultaneous voiding cystourethrography (VCUG). RESULTS: We studied 40 patients (80 renal units) between the ages of 2 months and 13 years (median age, 14 months). The indication for the test was a suspected VUR (36 patients, group A) and PUV follow-up (4 patients, group B). The test was correlated with VCUG in 16 patients (12 cases with high suspicion of VUR in group A and with 4 cases of PUV in group B). The visualisation of the urethra was appropriate in cases of dilation or urethral stricture. For 3 of these patients with bilateral VUR demonstrated in the serial VUS, the VCUG showed only unilateral VUR in 2 of the patients and no VUR in 1 of the patients (κ=.73). DISCUSSION: We have shown that the visualisation of the urethra is no longer a limitation and that serial VUS can be superior to conventional VCUG in diagnosing VUR.


Assuntos
Meios de Contraste , Fosfolipídeos , Hexafluoreto de Enxofre , Ultrassonografia , Doenças Uretrais/diagnóstico por imagem , Doenças Uretrais/fisiopatologia , Sistema Urinário/diagnóstico por imagem , Sistema Urinário/fisiopatologia , Micção , Refluxo Vesicoureteral/diagnóstico por imagem , Refluxo Vesicoureteral/fisiopatologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Projetos Piloto , Estudos Prospectivos
14.
Cir Pediatr ; 13(3): 124-5, 2000 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-12601943

RESUMO

The objectives of anal fistula treatment are to drain sepsis, irradicate the fistulous tract, and to preserve sphincter integrity and function. These goals can be achieved by either fistulotomy or fistulectomy. Alternative techniques include chemical setons, drainage setons, cutting setons and two-stage seton fistulotomy. We have treated 6 cases of trans-sphincteric fistula Parks type 2. The progressive fistulotomy technique was employed with a primary or one-stage cutting seton, as an outpatient procedure and without general anaesthetic. Complete division of the sphincter muscle took 18-27 days. No child presented incontinence or any other complications from the technique employed. No recurrences were observed at the 12 month follow-up. We conclude that the use of cutting setons is a simple and effective technique for the treatment of anal fistula in children, with low complication rates.


Assuntos
Canal Anal , Fístula Retal/cirurgia , Pré-Escolar , Humanos , Lactente
15.
Cir Pediatr ; 14(1): 9-13, 2001 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-11339122

RESUMO

Abdominal injuries are frequent in children, and the early assessment is the best guaranty for an accurate management. Although computed tomography (TAC) has been considered the diagnostic modality of choice for children with blunt abdominal trauma, is a costly radiological test that requires the patients be stable and sedated. The aim of this study is to evaluate the usefulness of abdominal ultrasonography, a quick, non-invasive technique, of low cost, and repeatable, during the initial assessment of these patients, arguing about the possibility of replace TAC in the detection of intra-abdominal posttraumatic injury. A retrospective case note review was carried out on the 22 children of less than 8 year-old admitted with blunt abdominal trauma to the Pediatric Surgery Section of our institution between 1991 and 1999. The most common mechanism of injury has been the motor vehicle accident (63.63%). All were initially evaluated with ultrasonography and those with any abnormal ultrasonographic findings (free intraperitoneal fluid, intra-abdominal organ injury) were further evaluated with computed tomography and/or repeated sonographies. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy o the diagnostic methods, have been evaluated. This investigation found abnormalities in 17 patients, 70.59% of whom have been managed conservatively. The accuracy of the abdominal ultrasound in the diagnosis of intra-abdominal injury was 77.27%, with a 82.35% sensitivity, 60% especificity, 87.5% positive predictive value, and 50% negative predictive value. The accuracy of the TAC in the diagnosis was 93.75%. The sensitivity, specificity, positive predictive value, and negative predictive value of the TAC were 92.85%, 100%, 100%, and 66% respectively. We conclude that TAC is the imaging modality of choice in children with severe abdominal trauma but ultrasonography is a reasonable technique to arouse diagnostic suspicion, that can avoid additional tomographic studies. Abdominal computed tomography must be reserved for the hemodynamically stable children with anormal ultrasonographic findings or with suspected injuries by a clinical evolution that gone unnoticed in the previous study.


Assuntos
Traumatismos Abdominais/diagnóstico por imagem , Ferimentos não Penetrantes/diagnóstico por imagem , Algoritmos , Pré-Escolar , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos , Ultrassonografia
16.
Cir Pediatr ; 13(3): 126-8, 2000 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-12601944

RESUMO

Kikuchi-Fujimoto's disease is a rare self-limited condition of young adults that usually involves the cervical lymph nodes and is associated with fever, rash and some haematological alterations. Diagnosis is based on characteristic pathologic findings that permit differentiation of this disease from lymphoma, systemic lupus erythematous and infectious lymphadenopathies. We describe a case of 7 year-old female presenting with cervical localization of Kikuchi-Fujimoto's disease. To our knowledge, this case results the earliest affection of this disease. Our proposal with this article is to remind the pediatricians and pediatric surgeons of this poorly recognized entity when children ask for cervical masses and fever.


Assuntos
Linfadenite Histiocítica Necrosante/diagnóstico , Criança , Feminino , Humanos
17.
Cir Pediatr ; 9(3): 113-7, 1996 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-9131969

RESUMO

Pancreatitis in children is uncommon, but can be associated with severe morbidity rates. Eleven patients (14 months to 9.5 years of age) with acute pancreatitis and one patient with chronic idiopathic pancreatitis beginning the second year of life, were treated over a 11-year period. Half of them had history of blunt abdominal trauma. The most frequent clinical presentations included abdominal pain and vomiting. Diagnosis of pancreatic injury was suggested by hypera-amylasemia, being the computerized tomography scan the most useful radiologic investigation. Medical treatment consisted of intravenous fluids, nasogastric suction and total parenteral nutrition. One third of the patients developed pancreatic pseudocysts (4); spontaneous resolution after observation and conservative therapy occurred in two and the others were treated by surgery. Ranson and Imrie scores can help predicting the severity of this disease in children; three of four pancreatic pseudocysts were judged to have severe pancreatitis by this criteria.


Assuntos
Pseudocisto Pancreático/diagnóstico por imagem , Pancreatite/sangue , Pancreatite/urina , Amilases/sangue , Amilases/urina , Criança , Pré-Escolar , Humanos , Lactente , Pâncreas/lesões , Estudos Retrospectivos , Ultrassonografia
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