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Impaired calcium homeostasis, clinical impact
No full textAbnormalities of the calcium homeostasis are, with exception of the neonatal period, not often to diagnose in childhood. However, as the clinical features may not only be quite heterogeneous but also present with a very changing pattern, abnormalities of calcium homeostasis have to be considered in many differential diagnoses. Extracellular fluid calcium or plasma calcium is very carefully controlled by fluxes of calcium, which occur between the extracellular fluid and the skeleton, as well as between gut and the kidneys. Therefore, in this review, first, the factors physiologically regulating calcium homeostasis and bone formation are summarized; and then, the situations in which the plasma calcium level should be measured in daily clinical practices are discussed
[Growth: what is normal?]
No full textGrowth is an inherent property of life, which has to be checked and controlled by any general physician following children. Therefore, the common knowledge about the normal pattern/course of growth is essential in order to act proactively whenever the child's growth does not progress adequately
[Sun-tanned and still not healthy!]
No full textWe describe a case of a 10 years old girl, which presented to the emergency room with non-specific gastro-intestinal symptoms, fatigue and low blood pressure. The clinical signs and laboratory value supported the diagnosis of Addison crisis with hypovolaemic shock. The pathophysiology and the therapy of this entity are discussed. Importantly, in children the aetiology may differ depending on age and sex. Based on the family history of autoimmune disorders, in our patient presenting with autoimmune adrenalitis and celiac disease, the diagnosis of an autoimmune polyendocrinopathy was made. A therapy of mineralcorticoids and glucocorticoids was initiated and a special gluten-free diet was prescribed. On this treatment our patient recovered promptly
[Doping in adolescence]
No full textDoping in sport is often very present in the media. Doping does not only concern top level sports but it also has an impact on sport as a whole. Young athletes may be influenced by its role models. In Switzerland there are no exact data on this influence or on the use of doping by adolescents. In this article, the effects and side-effects especially on adolescents of some current doping substances are discussed. As well, the regulations of the therapeutic use exemptions for doping substances are explained
[Hermaphroditos in Greek mythology--DSD in moderne medicine]
No full textWe report a case of 34 year old woman how has been hospitalized at the age of 6 month with persistent vomitus. The vomitus was found to be caused by adrenal insufficiency with lack of all hormones of steroidobiosynthesis. The phenotypical femal child was diagnosed to have congenital lipoid adrenal hyperplasia with 46,XY DSD. 24 years later a homozygote mutation in the StAR-gene (L260P), which was first described in Switzerland, has been identified
Osteonpenia and pathological fractures in an adolescent with lactose intolerance and high oxalate intake
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Heterozygous GHR gene mutation in a child with idiopathic short stature.
Get PDFAbstract Several monogenic defects have been reported to be associated with idiopathic short stature. Focusing on growth hormone receptor (GHR)-gene alterations, the heterozygosity of the same gene defect may be associated with a range of growth deficits. We found a heterozygous mutation (V144I) within exon 6 of the GHR gene in a patient with a low level of insulin-like growth factor I (IGF-I), normal level of GH, and severe short stature. Despite the lack of statistical difference, an overall tendency for reduced wt-GH-induction of GHR activation and Jak/Stat signalling in cells transiently expressing GHR-V144I alone or co-expressing wt-GHR compared to cells expressing only wt-GHR was found when GH doses were increased. Our results suggest that, although GHR sequence variants are responsible for some functional alterations commonly observed in children with idiopathic short stature, these changes may not explain all the height deficits observed in these subjects
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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