Cognitive assessment scale for stroke patients (CASP): A multicentric validation study.

BACKGROUND: The Mini Mental State Examination and Montreal Cognitive Assessment are commonly used as short screening batteries for assessing cognitive impairment after stroke. However, aphasia or hemispatial neglect may interfere with the results. For this reason, we developed the Cognitive Assessment scale for Stroke Patients (CASP), which takes these conditions into consideration and previously demonstrated its superiority over these scales in terms of feasibility. OBJECTIVES: Our goal was to verify the psychometric properties of the (original) French version of the CASP. METHODS: We included 201 patients with a recent first hemispheric stroke and 50 controls. Stroke patients were examined 4 times (visit 1 [V1] to visit 4 [V4]) in the subacute post-stroke phase. The structural validity of the CASP was studied by principal factorial analysis, convergent validity by comparison with several variables including a comprehensive neuropsychological assessment, divergent validity by comparison with the total score between stroke patients and controls, and sub-scores between right and left stroke. Internal consistency, reproducibility and sensitivity to change were assessed. We propose the Minimal Clinically Important Difference (MCID) value and a pathological threshold as well as a threshold to predict cognitive change between V1 and V4. RESULTS: Of the 201 participants included (63% male; mean [SD] age 63 [13] years), CASP data were available for 199/150/133/93 at V1/V2/V3/V4, respectively. CASP has a one-dimensional structure. The hypotheses of convergent/divergent validities were confirmed. Internal consistency was good and reliability excellent. Responsiveness was small to moderate, but the MCID could still be estimated. We discuss the choice of a pathological threshold and a predictive threshold of V1 over V4. CONCLUSIONS: CASP has good psychometric properties for screening cognitive impairment in the subacute post-stroke phase, which is consistent with its Italian and Korean versions. It can be used for patients with severe motor aphasia or left hemispatial neglect but not in case of severe oral comprehension or visual impairment.

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.

Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles.

Interindividual variability in TPMT enzyme activity: 10 years of experience with thiopurine pharmacogenetics and therapeutic drug monitoring.

BACKGROUND & AIMS: TPMT activity and metabolite determination (6-thioguanine nucleotides [6-TGN] and 6-methylmercaptopurine nucleotides [6-MMPN]) remain controversial during thiopurine management. This study assessed associations between patient characteristics and TPMT activity, and their impact on metabolite levels. PATIENTS & METHODS: A retrospective review of the laboratory database from a French university hospital identified 7360 patients referred for TPMT phenotype/genotype determination, and/or for 6-TGN/6-MMPN monitoring. RESULTS: Four TPMT phenotypes were identified according to TPMT activity distribution: low, intermediate, normal/high and very high. Based on 6775 assays, 6-TGN concentrations were 1.6-fold higher in TPMT-deficient patients compared with TPMT-normal patients. Azathioprine dose and TPMT genotype were significant predictors of metabolite levels. Furthermore, 6-MMPN and 6-MMPN: 6-TGN ratios were, respectively, 1.6- and 2.2-fold higher in females than in males, despite similar TPMT, 6-TGN and azathioprine doses. An unfavorable ratio (≥20) was associated with a slightly higher TPMT activity. CONCLUSION: These results illustrate the usefulness of pharmacogenomics and metabolite measurement to improve the identification of noncompliance and patients at high risk for toxicity or therapeutic resistance. Original submitted 13 November 2013; Revision submitted 30 January 2014.

The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.

OBJECTIVE: To explore hereditary haemochromatosis (HH) patients' perspectives on genetic information, namely the types of sources used, preferred or trusted. METHODS: A survey online was conducted by the European Federation of Associations of Patients with Haemochromatosis (EFAPH) and applied to members of nine National Associations. RESULTS: From a total of 1019 validated questionnaires, 895 respondents had performed a genetic testing for HH. From these, 627 self-declared that they were sufficiently informed about the implications of the genetic test to their health. The majority (66%) obtained the information from a specialist doctor, but would like to obtain it from the family doctor. However, the specialist was still the one they trusted more (69%). Regarding the 298 respondents who did not feel sufficiently informed, the majority (78%) also would like to have information from the family doctor although they also trusted the specialist more (75%). A different perspective was reported when patients were asked about the implications of the genetic testing to their family members, where the majority of respondents preferred obtaining information from a specialist (69%). CONCLUSION: This study elucidates the patients' needs for information and identifies the general practitioner (GP) as the preferred source to obtain information about HH. PRACTICE IMPLICATIONS: These results may have important implications in future strategies for HH awareness, giving a special emphasis on GPs as the main players.