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Rare diseases, often called “orphan diseases”, are a special challenge for epidemiologic research. Apart from the mere logistic effort for sample collection, there are considerable implications in statistical methodology. Usually one will not find enough cases of an orphan disease in a random sample from the population at risk. Furthermore, random error plays a more […]
…With rare diseases the evidence base is often poor. The reasons are, among other things: (a) strict separation of evidence users (i.e. physicians and patients) and evidence producers (i.e. scientists); (b) lack of methods and procedures for the inclusion of unused evidence sources in medical care (e.g. documentation of individual disease development, subjective patient experiences); […]
…The hibernoma is a rare benign tumor of soft tissue, derived from remnants of fetal brown adipose tissue. A cervical rib is a supernumerary or accessory rib derived from the 7th cervical vertebra. CLINCAL CASE: 2-year-old girl, previously healthy, referenced to Pediatrics consultation, for left supraclavicular mass. No history of infectious diseases or systemic symptoms. […]
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