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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 5 (1926), S. 706-708 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 142 (1984), S. 135-136 
    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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  • 3
    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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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 145 (1986), S. 297-302 
    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.
    Type of Medium: Electronic Resource
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  • 5
    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.
    Type of Medium: Electronic Resource
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  • 6
    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.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Regulatory Peptides 47 (1993), S. 109 
    ISSN: 0167-0115
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    FEBS Letters 151 (1983), S. 105-110 
    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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  • 9
    Electronic Resource
    Electronic Resource
    Berlin, Germany : Blackwell Verlag GmbH
    Anatomia, histologia, embryologia 31 (2002), S. 0 
    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.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Berlin, Germany : Blackwell Verlag GmbH
    Anatomia, histologia, embryologia 33 (2004), S. 0 
    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.
    Type of Medium: Electronic Resource
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