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  • 1
    ISSN: 1432-1076
    Keywords: Key words Sacral dysgenesis ; Anal stenosis ; Currarino syndrome ; Chromosome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Most cases of sacral dysgenesis are considered to be sporadic events. We present two families in whom the presence of associated clinical features prompted specific investigation of chromosome 7, leading to the identification of an underlying chromosome 7q deletion causing sacral dysgenesis. All affected individuals had microcephaly and developmental delay. Detailed cytogenetic studies confirmed that all three affected individuals had a deletion of chromosome 7q associated with their sacral dysgenesis, developmental delay and related problems. The three affected patients were studied clinically, radiologically and cytogenetically. Eleven unaffected individuals from the two families were also investigated by genetic studies, specifically evaluating chromosome 7. Conclusion It is important that detailed family history, evaluation of associated malformations and the overall clinical picture be considered in identifying the underlying diagnosis in cases of anal stenosis/sacral agenesis. The cases we present demonstrate the value of detailed chromosome studies in such situations.
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  • 2
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Wiedemann-Beckwith syndrome ; Pancreatoblastoma ; Ultrasound of abdomen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The association of pancreatoblastoma and Wiedemann-Beckwith syndrome has not been noted previously. In this report we describe a child with Wiedemann-Beckwith syndrome who had a pancreatoblastoma resected on day 27 of life. He is also the first reported case of Wiedemann-Beckwith syndrome in a black baby.
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    World journal of surgery 17 (1993), S. 296-300 
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Le pronostic vital des enfants atteints d'atrésie de l'oesophage dépend d'un diagnostic précoce, notamment grâce aux investigations complémentaires poussées, à l-amélioration des soins intensifs périnataux, et à un traitement chirurgical aggressif. En dix ans, 303 enfants porteurs d'une atrésie de l'oseophage et/ou une fistule trachéo-oesophagienne (184 garçons et 119 filles) ont été traités. Seulement 29 (9.4%) avaient une atrésie en l'absence d'air dans le tube digestif sur le cliché de l'abdomen initial. Des anomalies associées, essentiellement cardiaques, étaient présentes chez 157 (51.8%). Selon la classification de Waterson, 96.8% des enfants dans les groupes A et B et 79% des enfants du groupe C1 ont survéçu. Tous les enfants du groupe C2 sont décédés. Une anastomose terminoterminale simple a pu être réalisée chez 226 (77%) des enfants. La morbidité a été de 14% chez les 234 enfants ayant eu un traitement en un temps, alors que des sténoses ont été observées chez 87 (37%) de l'ensemble des enfants traités. La récidive fistuleuse a été constatée chez 17 (6.9%). Quarante-cinq enfants avaient un reflux, dont 23 nécessitant un traitement chirurgical.
    Abstract: Resumen El año de 1991 marca el 50° aniversario del primer reporte sobre el tratamiento exitoso de una atresia esofágica, atribuído a Cameron Haight en 1941; de lo que anteriormente fue un resultado uniformemente fatal, ahora se espera que la gran mayoría de estos bebés sobreviva. Una pequeña proporción (4–9%) exibe anomalías letales, tales como defectos cromosomiales y síndrome de Potter, y algunos desarrollan hemorragia intraventricular masiva en el período perinatal; la corrección de la lesión esofágica es irrelevante en estos pacientes. El incremento en la tasa de sobrevida en la atresia esofágica puede ser atribuído a varios factores. El diagnóstico precoz ha eliminado virtualmente la neumonía por aspiración; gracias al moderno y sofisticado cuidado neonatal se puede esperar la supervicencia aún de los más niños pequeños (〈1.500 gramos); múltiples avances en la atención quirúrgica han venido a reducir la mortalidad y la morbilidad de esta entidad. Hoy es generalmente aceptado que son las anomalías asociadas, especialmente los defectos cardíacos severos, y no la atresia esofágica como tal, la causa principal de muerte. La investigación intensiva y el tratamiento agresivo de estas anomalías deben contribuir a reducir aún más la mortalidad de los recién nacidos con atresia esofágica.
    Notes: Abstract A total of 303 infants with esophageal atresia and/or tracheoesophageal fistula were treated over 10 years (1980–1989). The overall survival rate was 86.5%. Associated anomalies were identified in 51.8% of patients, the most common being cardiac malformations which affected 24.4% of infants and was responsible for the majority of deaths. The dramatic increase in survival of infants with esophageal atresia in the past half century is due to improvements in pre- and postoperative management, meticulous operative technique to reduce anastomotic complications, and aggressive treatment of associated congenital anomalies.
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  • 5
    ISSN: 1437-9813
    Keywords: EMG ; Anal sphincter ; Ano-rectal anomalies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Electromyography (EMG) of the external anal sphincter (EAS) and puborectalis was performed in 21 children with ano-rectal malformations prior to corrective surgery. Children with high, low, and intermediate types of anomaly were studied. Continuous EMG activity indicating the presence of an EAS was found in all but 7 children. The absence of EMG activity was ascribed to technical factors in 4 of these children; of the remaining 3, 2 had cloacal exstrophy and 1 had a short sacrum.
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  • 6
    ISSN: 1437-9813
    Keywords: Intrathoracic stomach ; Hiatus hernia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper reviews the presentation and management for congenital intrathoracic stomach (CIS). The features that distinguish CIS from congenital short oesophagus and acquired oesophageal shortening are emphasised. The study is based on a retrospective review of six patients treated between 1988 and 1994. The four youngest presented with vomiting and the older two with respiratory symptoms. Chest radiographs were abnormal in every case, although the precise diagnosis was confirmed by barium meal. All cases were repaired through an abdominal approach; in each case the oesophagus was of sufficient length to allow the stomach to lie below the diaphragm. CIS is an uncommon condition. The most frequent cause is a large hiatus hernia, and the transabdominal route is the most satisfactory approach for operative repair.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 13 (1998), S. 454-454 
    ISSN: 1437-9813
    Keywords: Key words Gastrostomy ; Umbilicus ; Children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new variation of open gastrostomy placement is described in which a Stamm gastrostomy is performed via a supraumbilical incision around the circumference of the umbilicus. Access to the stomach is good and the cosmetic result is superior to that obtained with the conventional incision.
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  • 8
    ISSN: 1437-9813
    Keywords: Liver ; Mesenchymal hamartoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Eight children ranging in age from 1 day to 6 years with mesenchymal hamartoma of the liver are reported. The diagnosis was established by the characteristic ultrasound finding of a mass of mixed cystic and solid consistency. The treatment of choice is operative resection, which was accomplished with low postoperative morbidity and no mortality. By reducing excessive vascularity, angiographic embolisation facilitated resection in one patient.
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  • 9
    ISSN: 1437-9813
    Keywords: Hirschsprung's disease ; Neurogenic damage ; External anal sphincter ; Eletromyography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Children with faecal continence problems following surgical “pull-through” procedures performed for Hirschsprung's disease were investigated by concentric needle electromyographic studies of the external anal sphincter and puborectalis. The results were compared with those from a control group of children incontinent following correction of anorectal anomalies. In the Hirschsprung group the motor unit potentials in the external sphincter, but not in puborectalis, showed florid abnormalities with increased complexity and duration of the waveform, often with blocking and increased jitter, indicative of a continuing process of denervation and reinnervation. In four of the five patients with Hirschsprung's disease who were tested, pudendal nerve terminal latencies were increased, suggesting neurogenic damage to the external sphincter. Where such changes are found in children incontinent following surgery for Hirschsprung's disease, they may indicate a need for modified clinical management.
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 11 (1996), S. 462-465 
    ISSN: 1437-9813
    Keywords: Long-gap oesophageal atresia ; Primary anastomosis ; Oesophageal replacement ; Tracheo-oesophageal fistula
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The various options for the management of long-gap oesophageal atresia are discussed. Of 89 infants treated, 27 had isolated atresia, 6 distal atresia with proximal fistula, and 56 atresia with distal fistula. The preferred approach for the former two groups was oesophageal replacement via gastric transposition. Recently, delayed primary anastomosis has been attempted after 6–12 weeks. For wide-gap atresia with distal fistula, primary anastomosis under marked or extreme tension with elective paralysis and mechanical ventilation for 5 days postoperatively achieved highly successful results in 39 infants. There were no major anastomotic disruptions and only 7 minor leaks. Strictures developed in 72% of cases and gastro-oesophageal reflux in 54%, 66% of whom required antireflux surgery. There was only 1 death in the 43 patients undergoing oesophageal replacement (none after gastric transposition, n = 34). A highly satisfactory outcome was achieved in 85%–90% of infants undergoing a replacement procedure.
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