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The main drawback with this approach is the clear tendency to underestimate the changes in body tissues and organs, since the values indicative of disease, or its most relevant manifestations, are minimised.
At long-term analysis, up to 78 weeks, there was a progressive increase in the percentage of ANA-positive patients without any clinically relevant manifestations.
The definitive diagnosis of a specific genetic syndrome implies that there are different therapeutic approaches even to highly relevant manifestations, such as aortic root disease.
While there are no current standards for monitoring these patients, the available evidence suggests that we should routinely screen for relevant manifestations, and arrange laboratory investigations to assess the gonadal function (luteinising hormone, follicle stimulating hormone, and testosterone or oestradiol).
Accelerated disease progression in these dko mice provides an excellent opportunity not only to obtain results from experimental therapies more rapidly but also to confirm whether a therapy can indeed ameliorate clinically relevant manifestations and increase lifespan.
Although the PCL-C and GHQ-12 were both designed to be effective without adaptation to specific cultural settings, adapting and validating psychometric screening instruments (that explore culturally relevant manifestations of mental illness and use accurate idioms to describe symptoms) would improve effectiveness for local contexts.
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The data demonstrate that the earliest ictal, clinically relevant manifestation of progressive PTE in head injured rats consists of short (>0.8 s) CRSPSs, and we hypothesize that human PTE may first manifest with similar short partial seizures and may therefore be under-recognized.
Indeed, some prominent DM-relevant manifestations, including skeletal muscle weakness/wasting and cardiac arrhythmias, are not routinely observed in Mbnl1 and Mbnl2 single KOs.
In particular, the early pathological changes described by Braak et al. and the awareness of extensive and clinically relevant premotor manifestations are of diagnostic and therapeutic importance.
However, the clinically relevant vascular manifestations in SSc affect the pulmonary arteries and the smaller vessels.
Relevant clinical manifestations are thought to be secondary to this edema [ 39].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com