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Rodriguez-Quiroga S.A.,JM Ramos Mejia Hospital | Gonzalez-Moron D.,Neurogenetics Unit | Garretto N.,Movement Disorders Unit | Kauffman M.A.,Neurogenetics Unit
BMJ Case Reports | Year: 2013

Huntington's disease (HD) is a neurodegenerative disorder of the central nervous system characterised by the presence of choreic abnormal movements, behavioural or psychiatric disturbances and dementia. Noteworthy, despite atypical motor symptoms other than chorea have been reported as initial presentation in some patients, a very few number of HD patients, presenting at onset mostly cerebellar dysfunction masquerading dominant spinocerebellar ataxias (SCA), were occasionally reported. We report the case of a 42-year-old man with a 5-year history of gait disturbance, dysarthria and cognitive impairment and familial antecedents of dementia and movement disorders. Initially the clinical picture suggested the diagnosis of a dominant SCA, but finally a diagnosis of HD was made based on the molecular evidence of abnormal 39 Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of Huntingtin gene. The authors highlight the importance of suspecting HD in the aetiology of spinocerebellar ataxias when dementia is a prominent feature in the proband or their family. Source


Rodriguez-Quiroga S.A.,JM Ramos Mejia Hospital
BMJ case reports | Year: 2013

Huntington's disease (HD) is a neurodegenerative disorder of the central nervous system characterised by the presence of choreic abnormal movements, behavioural or psychiatric disturbances and dementia. Noteworthy, despite atypical motor symptoms other than chorea have been reported as initial presentation in some patients, a very few number of HD patients, presenting at onset mostly cerebellar dysfunction masquerading dominant spinocerebellar ataxias (SCA), were occasionally reported. We report the case of a 42-year-old man with a 5-year history of gait disturbance, dysarthria and cognitive impairment and familial antecedents of dementia and movement disorders. Initially the clinical picture suggested the diagnosis of a dominant SCA, but finally a diagnosis of HD was made based on the molecular evidence of abnormal 39 Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of Huntingtin gene. The authors highlight the importance of suspecting HD in the aetiology of spinocerebellar ataxias when dementia is a prominent feature in the proband or their family. Source


Achhra A.C.,University of New South Wales | Phillips A.,University College London | Emery S.,University of New South Wales | Macarthur R.D.,Wayne State University | And 4 more authors.
HIV Medicine | Year: 2015

Objectives: Pre-antiretroviral therapy (ART) inflammation and coagulation activation predict clinical outcomes in HIV-positive individuals. We assessed whether pre-ART inflammatory marker levels predicted the CD4 count response to ART. Methods: Analyses were based on data from the Strategic Management of Antiretroviral Therapy (SMART) trial, an international trial evaluating continuous vs. interrupted ART, and the Flexible Initial Retrovirus Suppressive Therapies (FIRST) trial, evaluating three first-line ART regimens with at least two drug classes. For this analysis, participants had to be ART-naïve or offART at randomization and (re)starting ART and have C-reactive protein (CRP), interleukin-6 (IL-6) and D-dimer measured pre-ART. Using random effects linear models, we assessed the association between each of the biomarker levels, categorized as quartiles, and change in CD4 count from ART initiation to 24 months post-ART. Analyses adjusted for CD4 count at ART initiation (baseline), study arm, follow-up time and other known confounders. Results: Overall, 1084 individuals [659 from SMART (26% ART naïve) and 425 from FIRST] met the eligibility criteria, providing 8264 CD4 count measurements. Seventy-five per cent of individuals were male with the mean age of 42 years. The median (interquartile range) baseline CD4 counts were 416 (350-530) and 100 (22-300) cells/μL in SMART and FIRST, respectively. All of the biomarkers were inversely associated with baseline CD4 count in FIRST but not in SMART. In adjusted models, there was no clear relationship between changing biomarker levels and mean change in CD4 count post-ART (P for trend: CRP, P=0.97; IL-6, P=0.25; and D-dimer, P=0.29). Conclusions: Pre-ART inflammation and coagulation activation do not predict CD4 count response to ART and appear to influence the risk of clinical outcomes through other mechanisms than blunting long-term CD4 count gain. © 2015 British HIV Association. Source


Gargiulo Monachelli G.,CONICET | Meyer M.,CONICET | Rodriguez G.E.,JM Ramos Mejia Hospital | Garay L.I.,CONICET | And 6 more authors.
Acta Neurologica Scandinavica | Year: 2011

Negative prognostic factors in amyotrophic lateral sclerosis include advanced age, shorter time from disease onset to diagnosis, bulbar onset and rapid progression rate.Objective - To compare progesterone (PROG) and cortisol serum levels in patients and controls and ascertain its relationship to prognostic factors and survival.Methods - We assessed serum hormonal levels in 27 patients and 21 controls.Results - Both hormones were 1.4-fold higher in patients. PROG showed a negative correlation with age, positive correlation with survival and positive trend with time to diagnosis. Increased PROG was observed in spinal onset and slow progression patients. No correlation was demonstrated with cortisol.Conclusion - Increased hormonal levels in patients are probably due to hypothalamic-pituitary-adrenal axis activation. Nevertheless, in this preliminary report only PROG correlated positively with factors predicting better prognosis and survival. We hypothesize endogenous PROG and cortisol may be engaged in differential roles, the former possibly involved in a neuroprotective response. © 2010 John Wiley & Sons A/S. Source


Ambrosio L.,University of Pamplona | Portillo M.C.,University of Southampton | Rodriguez-Blazquez C.,CIBER ISCIII | Martinez-Castrillo J.C.,Ramon y Cajal University Hospital | And 9 more authors.
Parkinsonism and Related Disorders | Year: 2016

Introduction: To explore the psychometric attributes of a new Satisfaction with Life Scale (SLS-6) in a wide Spanish-speaking population with Parkinson's disease (PD). Methods: This was an international, cross-sectional study. Several rater-based and patient-reported outcomes measures for evaluation of PD (e.g., Scales for Outcomes in Parkinson's Disease-Motor) and other constructs (e.g., Duke-UNC Functional Social Support Questionnaire, Scale for Living with Chronic Illness) were applied together with the SLS-6. Acceptability, scaling assumptions, reliability, precision, and construct validity were tested. Results: The study included 324 patients from five countries, with age (mean ± standard deviation) 66.67 ± 10.68 years. None of the SLS-6 items had missing values and all acceptability parameters fulfilled the standard criteria. Scaling assumptions allowed the calculation of a summary index from items 2 to 6, complementary to the global evaluation (item 1). For these five items, Cronbach's alpha was 0.85; the corrected item-total correlation 0.53-0.73; inter-item correlation, 0.45-0.70, with an item homogeneity index of 0.55. The standard error of measurement, based on Cronbach's alpha for a single observation, was 3.48. SLS-6 correlations were moderate to strong (rs ≥ 0.35) with the patient-reported outcomes and weak to moderate with the rater-based assessments used in the study. The SLS-6 total score was significantly different according to PD severity levels established according to Hoehn and Yahr staging, Clinical Impression of Severity Index, and Patient-Based Global Impression of Severity scale. Conclusion: The results suggest that SLS-6 is an easy, feasible, acceptable, consistent, precise and valid measure to evaluate satisfaction with life in PD patients. © 2016 Elsevier Ltd. Source

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