PubMed · 8415379
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M Lough. 1993. A protocol for care.. https://pubmed.ncbi.nlm.nih.gov/8415379/
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Von Hippel-Lindau disease (VHL) is an autosomal dominantly inherited syndrome with high penetrance, characterised by tumours in various organs. The Dutch VHL working group presents guidelines for DNA testing and clinical monitoring, to enhance early detection and treatment of VHL patients in the Netherlands. Diagnosis of VHL is justified in patients presenting with a typical VHL tumour with a positive family history, but patients with a VHL tumour and a negative family history may also have VHL. Diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene which is informative in virtually all VHL families. In a patient with (suspicion for) VHL there is an indication for genetic counselling. A protocol for clinical monitoring of VHL is presented and is recommended for: carriers of a VHL germline mutation; members of VHL families with an unknown familial mutation; members of VHL families who decline testing of the familial mutation; patients suspected for VHL, but without a detectable VHL gene mutation.
In these days, more than one clinical trial is mostly performed to evaluate a new treatment or therapeutic intervention. This necessitates a combined evaluation of their results. An integration of evidence from several trials is also helpful to determine the actual knowledge. These are the main goals of meta-analyses. Since the end of the 80s meta-analyses are widely used in clinical research. At the beginning of a meta-analysis, a protocol has to be developed. Similar to a protocol of a clinical trial, the inclusion and exclusion criteria for trials, the hypotheses and the planned analyses have to be fixed. After a careful localization of trials, a combined statistical analysis is performed. An investigation of heterogeneity, i.e., differences between study results, is indispensable. During the last years, the tool meta-analysis has been criticized. The criticism mainly results from poorly conducted meta-analyses which generated results without prespecifying hypotheses or which merely combined study results. Well-planned meta-analyses, on the contrary, have an increasing influence in clinical research.