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Diagnosis of VO was made if two of the following criteria were present: (1) clinical presentation compatible with VO [ 1] such as fever, back pain or neurological deficits, (2) compatible radiological images [ 11, 12] and (3) identification [ 13] of pathogen by blood culture, needle biopsy or surgical biopsy.
The categories were as follows: Definite TB: A clinical presentation compatible with TB with at least 1 positive culture (from any specimen) for M. tuberculosis with response to anti-TB therapy [20].
Five of these had a clinical presentation compatible with viral meningitis or encephalitis, while such symptoms were absent in one case (Pat no 2).
Brain and pituitary MRI showed a normal pituitary gland with a mild convexity presentation compatible with the HPGA activation, but no other organic causes for TCPP were detected.
Therefore, in the absence of pathological confirmation of disease, it remains possible that many of the remaining carriers of expansions in C9ORF72 with a clinical presentation compatible with AD could actually represent phenocopies of FTLD.
We included 142 consecutive patients with sarcoidosis according to the criteria retained in the Consensus Conference ATS/ERS [ 14], that is, combining clinical, biological and radiological presentation compatible with diagnosis and excluding other granulomatous diseases.
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This study enrolled 125 cases with clinical presentations compatible with conjunctival neoplastic lesions and 125 control subjects.
We report here the identification by whole-exome sequencing (WES) of the first described mutations in VARS2 (MIM# 612802) and TARS2 (MIM# 612805) in patients with clinical presentations compatible with mitochondrial disorders and OXPHOS deficiency.
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The clinical presentation is compatible with an ischemia-reperfusion injury.
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