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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 141 (1983), S. 36-38 
    ISSN: 1432-1076
    Keywords: Hypocalcaemia ; Oesophageal atresia ; Gastrectomy ; Secondary hyperparathyroidism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two cases of hypocalcaemia following removal of the stomach due to complications of surgery for tracheo-oesophageal anomalies are reported. In both instances grand mal seizures were the presenting features with radiological and biochemical evidence of rickets. Both children had elevated blood parathyroid hormone levels. The bone changes, hypocalcaemia and symptoms responded to parenteral vitamin D therapy. Sub total gastrectomy is a rare event in infancy and consequently no previous cases of vitamin D lack has been recorded as a complication of gastric surgery in this age group.
    Type of Medium: Electronic Resource
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  • 2
    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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  • 3
    ISSN: 1432-1076
    Keywords: Neonatal hyperparathyroidism ; Total parathyroidectomy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a girl with congenital hyperparathyroidism who presented soon after birth with respiratory distress, hypotonia, feeding difficulties, and bone deformities. Hypercalcaemia, hypophosphataemia, and raised alkaline phosphatase were present and plasma parathyroid hormone levels measured by radioassay and bioassay were raised. X-rays showed gross demineralisation with metaphyseal fractures, erosions, and sub-periostal reaction along the bones. Following surgical removal of four hyperplastic parathyroid glands and subsequent maintainance therapy with 1-alpha-hydroxycholecalciferol there has been virtually complete reversal of her bone abnormalities.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Hypogammaglobulinaemia ; Malakoplakia ; Macrophage granules ; Bethanechol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A second patient is described with the syndrome of hypogammaglobulinaemia and malakoplakia; he too responded dramatically to bethanechol treatment and remains well on it.
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  • 5
    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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  • 6
    ISSN: 0014-5793
    Keywords: Affinity chromatography ; Monoclonal antibody ; Radiobinding assay ; β-Endorphin precursor ; β-Immunoblotting ; β-Lipotrorin
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1439-0264
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Aim: To quantify the chronological sequence of changes in the morphology and immunoreactivity for neurotransmitters in the pylorus of an animal model of infantile hypertrophic pyloric stenosis and phenylketonuria. Method: Thirty specimens of pylorus from hph-1 mice and age/sex matched controls (age range: 10–180 days) were examined using conventional histology and immunohistochemistry for a variety of antigens: protein gene product 9.5, a pan neuronal marker; vasoactive intestinal polypeptide; nitric oxide synthase two antigens coalesced to the same inhibitory neurons in humans; substance P, a potent excitatory neurotransmitter; and calcitonin gene related peptide, a neurotransmitter implicated in the somatic afferent innervation of the stomach. The changes in the morphology of the muscle layers were quantified and statistically analysed for each age group (10, 20, 40, 90 and 180 days). Results: Between 10 and 90 days of age, all muscle layers of the hph-1 mice were hypertrophied, for example, 10 days, hph-1 longitudinal muscle mean diameter = 3.4, control = 1.8; hph-1 circular muscle width = 11.5, control = 4.7. The hph-1 mice were significantly smaller during this period (40 days, hph-1 weight = 10 g, control = 25 g). There was no change in the pattern of expression of the antigens examined within the hph-1 mice compared with the controls. Conclusion: Hph-1 mice develop a transient smooth muscle hypertrophy of the pylorus attended by gastric distension and failure to gain weight. These changes resolve as the pyloric muscle hypertrophy resolves.
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  • 8
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Pediatric anesthesia 4 (1994), S. 0 
    ISSN: 1460-9592
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1439-0264
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: This study aimed to quantify the neural changes in congenital pyloric stenosis in dogs and to study the comparative anatomy between this condition in dogs and that in infantile hypertrophic pyloric stenosis. Eight specimens from the pylorus of dogs with pyloric stenosis and six control specimens were examined using conventional histology and immunohistochemistry for a range of neural antigens. The changes in the proportion of nerves immunoreactive for each antigen were quantified and analysed statistically. The morphology of the nerves in the diseased dogs was similar to that in controls. Only vasoactive intestinal peptide was reduced in expression in dogs (median proportion in control dogs 0.57, in diseased dogs 0.17; P = 0.065). This study demonstrates both morphological similarities and significant differences between closely related conditions in dogs, humans and other species.
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  • 10
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Objective To investigate the incidence of associated anomalies and document changes and progress in the management and outcome of intrinsic duodenal obstruction (atresia or stenosis) in a large series over a long time period with a view to providing comprehensive data for prenatal counselling.Design A retrospective casenote review.Setting A quaternary referral centre for paediatxic and neonatal surgery.Population lbo hundred and seventy-five infants born with duodenal obstruction between 1951 and 1995.Methods For analysis of management and outcome data, the series was divided into three groups, each admitted over 15 year periods: Group A, 1951–1965; Group B, 1966–1980; Group C, 1981–1995.Main outcome measures Primary: associated anomalies, complication rates and survival. Secondary: age at diagnosis, duration of hospital stay.Results There were 136 males and 139 females. Seventeen of 30 cases (57%) presenting between 1991 and 1995 were diagnosed prenatally on ultrasound scan. The median age at diagnosis for atresia was 3–5 days (Group A); 2.2 days (Group B) and 1.8 days (Group C). The median age at diagnosis for incomplete obstruction was five days. Associated anomalies included Down's syndrome (n= 82, 30%); Down's plus cardiac malformation (n= 38, 14%); isolated cardiac (n= 64, 23%); and gastrointestinal problems (n= 116, 42%). Overall complication rates fell from 51% (Group A) to 18% (Group C) and survival increased from 51% to 95%. Median hospital stay also decreased from 35 days to 18 days.Conclusions These data confirm a progressive improvement in the outcome of intrinsic duodenal obstruction over the past 45 years. It is important to note that they only relate to infants born with duodenal atresia and do not take into account possible ‘hidden’ mortality resulting from spontaneous abortion or termination.
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