Should the food industry resign from the health department too?

Furore over links between Assistant Minister for Health Fiona Nash’s office and industry continues today with revelations that her former chief of staff is connected to the alcohol, as well as the food industry. Alastair Furnival resigned last Friday over his role in shutting down a website about the health star rating food labelling system and it’s now been revealed that he played a key role in cancelling the funding of the Alcohol and other Drugs Council of Australia. Furnival is co-owner of a lobbying firm that has represented major food companies opposed to the new front-of-pack labelling system. According to Fairfax, he and his wife also co-own a company, which, in turn, owns another that lobbied for the alcohol industry in 2012. Such conflicts of interest place question marks over an individual’s capacity to judge a situation, perform a duty or make a decision in a fair and impartial manner. But what if a public institution, such as the Department of Health itself, has conflicted interests? Furnival’s conflict of interest is worrying and should be thoroughly scrutinised. But the influence of the food and alcohol industries at the institutional-level precedes Furnival and will continue despite his resignation.Rock Ethics Institute at the Pennsylvania State University and the Edmond J. Safra Center for Ethics at Harvard University

Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome

Objective: Some features of subjects with Prader-Willi syndrome (PWS) resemble those seen in growth hormone deficiency (GHD). Children with PWS are treated with growth hormone (GH), which has substantially changed their phenotype. Currently, young adults with PWS must discontinue GH after attainment of adult height when they do not fulfil the criteria of adult GHD. Limited information is available about the prevalence of GHD in adults with PWS. This study aimed to investigate the GH/insulin-like growth factor (IGF-I) axis and the prevalence of GHD in previously GH-treated young adults with PWS. Design: Cross-sectional study in 60 young adults with PWS. Measurements: Serum IGF-I and IGFBP-3 levels, GH peak during combined growth hormone-releasing hormone (GHRH)-arginine stimulation test. Results: Serum IGF-I was <−2 standard deviation scores (SDS) in 2 (3%) patients, and IGFBP-3 was within the normal range in all but one patient. Median (IQR) GH peak was 17.8 μg/L (12.2; 29.7) [~53.4 mU/L] and below 9 μg/L in 9 (15%) patients. Not one patient fulfilled the criteria for adult GHD (GH peak < 9 μg/L and IGF-I < −2 SDS), also when BMI-dependent criteria were used. A higher BMI and a higher fat mass percentage were significantly associated with a lower GH peak. There was no significant difference in GH peak between patients with a deletion or a maternal uniparental disomy (mUPD). Conclusions: In a large group of previously GH-treated young adults with PWS, approximately 1 in 7 exhibited a GH peak <9 μg/L during a GHRH-arginine test. However, none of the patients fulfilled the consensus criteria for adult GHD

Primrose syndrome: Characterization of the phenotype in 42 patients

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients. Several signs and symptoms of PS develop during childhood, but the cardinal features, such as calcification of the external ears, cystic bone lesions, muscle wasting, and contractures typically develop between 10 and 16 years of age. Biochemically, anemia and increased alpha-fetoprotein levels are often present. Two adult males with PS developed a testicular tumor. Although PS should be regarded as a progressive entity, there are no indications that cognition becomes more impaired with age. No obvious genotype-phenotype correlation is present. A subgroup of patients with ZBTB20 variants may be associated with mild, nonspecific ID. Metabolic investigations suggest a disturbed mitochondrial fatty acid oxidation. We suggest a regular surveillance in all adult males with PS until it is clear whether or not there is a truly elevated risk of testicular cancer.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.published version, accepted version (12 month embargo) submitted versio

The Smith-Lemli-Opitz syndrome. A multiple malformation syndrome due to a defect in cholesterol biosynthesis.

Contains fulltext : 26946_smitsy.pdf (publisher's version ) (Open Access)RU Radboud Universiteit Nijmegen, 28 juni 2005Promotores : Wevers, R.A., Smeitink, J.A.M.166 p

Theofylline-intoxicatie bij kinderen

Contains fulltext : 23213___.PDF (publisher's version ) (Open Access

Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome

Contains fulltext : 24664___.PDF (publisher's version ) (Open Access

New treatment strategy for Smith-Lemli-Opitz syndrome

Contains fulltext : 24517___.PDF (publisher's version ) (Open Access

The growing skull fracture, a rare complication of paediatric head injury.

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Theophylline-intoxicatie bij kinderen.

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