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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.
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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.
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.
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).
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.
The diagnosis of leprosy remains based on the appearance of clinically relevant manifestations and treatment has been simplified to incorporate recommended MDT regimen of 6 months for paucibacillary patients (PB; encompassing TT and BT forms) and of 12 months for multibacillary patients (MB; encompassing LL, BL, BB and some BT forms).
Indeed, some prominent DM-relevant manifestations, including skeletal muscle weakness/wasting and cardiac arrhythmias, are not routinely observed in Mbnl1 and Mbnl2 single KOs.
Hyperglycaemia in severe acute pancreatitis is clinically relevant and manifestation of secondary diabetes mellitus is frequent.
In our case, the RBD was the only relevant clinical manifestation in absence of signs of extrapyramidal dysfunction.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com