Eye Involvement in Wilson’s Disease: A Review of the Literature

Wilson’s disease (WD) is an autosomal recessive genetic disorder due to a mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and accumulation in various tissues. Ocular findings are one of the hallmarks of the disease. Many ophthalmological manifestations have been described and new techniques are currently available to improve their diagnosis and to follow their evolution. We have performed a systematic PubMed search to summarize available data of the recent literature on the most frequent ophthalmological disorders associated with WD, and to discuss the newest techniques used for their detection and follow-up during treatment. In total, 49 articles were retained for this review. The most common ocular findings seen in WD patients are Kayser–Fleischer ring (KFR) and sunflower cataracts. Other ocular manifestations may involve retinal tissue, visual systems and eye mobility. Diagnosis and follow-up under decoppering treatment of these ocular findings are generally easily performed with slit-lamp examination (SLE). However, new techniques are available for the precocious detection of ocular findings due to WD and may be of great value for non-experimented ophthalmologists and non-ophthalmologists practitioners. Among those techniques, anterior segment optical coherence tomography (AS-OCT) and Scheimpflug imaging are discussed

It’s not what you say, it’s how you say it: A retrospective study of the impact of prosody on own-name P300 in comatose patients

International audienceObjectiveThe acoustic characteristics of stimuli influence the characteristics of the corresponding evoked potentials in healthy subjects. Own-name stimuli are used in clinical practice to assess the level of consciousness in intensive care units. The influence of the acoustic variability of these stimuli has never been evaluated. Here, we explored the influence of this variability on the characteristics of the subject’s own name (SON) P300.MethodsWe retrospectively analyzed 251 disorders of consciousness patients from Lyon and Paris Hospitals who underwent an “own-name protocol”. A reverse correlation analysis was performed to test for an association between acoustic properties of own-names stimuli used and the characteristics of the P300 wave observed.ResultsOwn-names pronounced with increasing pitch prosody showed P300 responses 66 ms earlier than own-names that had a decreasing prosody [IC95% = 6.36; 125.9 ms].ConclusionsSpeech prosody of the stimuli in the “own name protocol” is associated with latencies differences of the P300 response among patients for whom these responses were observed. Further investigations are needed to confirm these results.SignificanceSpeech prosody of the stimuli in the “own name protocol” is a non-negligible parameter, associated with P300 latency differences. Speech prosody should be standardized in SON P300 studies

Virological and immunological effects of salvage therapy following treatment interruption and a shift in HIV-1 resistance genotype

International audienceThe circulating human immunodeficiency virus type 1 (HIV-1) population of patients in whom many prior therapy regimens have failed often undergo a shift from a drug-resistant virus to a wild-type virus following interruption of treatment. This study analyses the virological and immunological effects of salvage therapy following treatment interruption and a shift from a drug-resistance genotype. Twenty-one HIV-1 infected patients who had genotype reversion by population-based sequencing after 3 months of treatment interruption were given a new salvage regimen consisting of 3-5 drugs selected according to their treatment history. Seven (33%) of 21 patients who had fewer than 200 HIV-1 RNA copies/ml until month 12 were defined as virological responders. Four patients were transient responders and 10 were nonresponders. The virological responders were more frequently CDC group A and had higher CD4 + T lymphocyte counts at the time of treatment resumption. The peripheral blood T CD4 + and T CD8 + lymphocyte populations of the patients declined significantly during treatment interruption. Only virological responders showed significant increases in their CD4 + T lymphocyte count 12 months after treatment resumption and these counts rapidly returned to pre-interruption baseline values in most of these patients. Treatment interruption could be useful for optimising salvage therapy for patients previously given many failing regimens. However, controlled trials are needed to assess the clinical benefit of this strategy

Hypertrophic cardiomyopathy : the edge-to-edge secures the correction of the systolic anterior motion

Objectives: Although septal myectomy is the technique of choice for hypertrophic cardiomyopathy, the surgical management of concomitant mitral valve lesions is controversial. Various complex surgeries have been proposed to address mitral valve lesions. We propose a simple option using an edge-to-edge mitral valve repair through the aortic valve in addition to the septal myectomy. Methods: We performed an observational analysis of our prospectively collected database. The clinical follow-up was done by telephone contact with each patient. The echocardiographic follow-up was performed in our Department of Cardiology or by the referring cardiologist. Results: Between January 2009 and March 2016, we operated 22 symptomatic patients (mean age 48.5 years, males 59%). The mean interventricular septum diameter and resting intraventricular gradient were 25.8 mm and 75.4 mmHg, respectively. The systolic anterior motion was present in every patient. The mean mitral regurgitation grade was 2.4. There were no in-hospital deaths. Two (9%) patients required a pacemaker. After a mean follow-up of 26.3 months, the mean New York Heart Association functional class decreased from 2.5 to 1.2 (P < 0.001). The echocardiographic follow-up showed a sustained significant reduction of the septal thickness (P < 0.001), resting intraventricular gradient (P < 0.001), presence of systolic anterior motion (P < 0.001) and grade of mitral regurgitation (P = 0.002). Conclusions:Septal myectomy remains the gold standard of any surgery for hypertrophic cardiomyopathy owing to its good clinical and echocardiographic results. The edge-to-edge mitral valve repair is an additional simple option to avoid the systolic anterior motion and effectively reduce the grade of mitral regurgitation

Does transient cART started during primary HIV infection undermine the long-term immunologic and virologic response on cART resumption?

International audienceWe explored the impact of transient cART started during the primary HIV-infection (PHI) on the long-term immunologic and virologic response on cART resumption, by comparison with treatment initiation during the chronic phase of HIV infection (CHI). We analyzed data on 1450 patients enrolled during PHI in the ANRS PRIMO cohort between 1996 and 2013. "Treatment resumption" was defined as at least 3 months of resumed treatment following interruption of at least 1 month of treatment initiated during PHI. "Treatment initiation during CHI" was defined as cART initiated ≥6 months after PHI. The virologic response to resumed treatment and to treatment initiated during CHI was analyzed with survival models. The CD4 cell count dynamics was modeled with piecewise linear mixed models. 136 patients who resumed cART for a median (IQR) of 32 (18-51) months were compared with 377 patients who started cART during CHI for a median of 45 (22-57) months. Most patients (97%) achieved HIV-RNA <50 cp/mL after similar times in the two groups. The CD4 cell count rose similarly in the two groups during the first 12 months. However, after 12 months, patients who started cART during CHI had a better immunological response than those who resumed cART (p = 0.01); therefore, at 36 months, the gains in √CD4 cells/mm(3) and CD4% were significantly greater in patients who started treatment during CHI. These results suggest that interruption of cART started during PHI has a significant, albeit modest negative impact on CD4 cell recovery on cART resumption

Early loss of bone mineral density is correlated with a gain of fat mass in patients starting a protease inhibitor containing regimen: the prospective Lipotrip study.

International audienceBACKGROUND: HIV-infected patients starting antiretroviral treatment (ART) experience deep and early disorders in fat and bone metabolism, leading to concomitant changes in fat mass and bone mineral density METHODS: We conducted a prospective study in treatment-naive HIV-infected patients randomized to receive two nucleoside reverse transcriptase inhibitors in combination with either a protease inhibitor (PI) or a non-nucleosidic reverse transcriptase inhibitor (NNRTI), to evaluate early changes in body composition, bone mineral density and metabolic markers as differentially induced by antiretroviral therapies. We measured changes in markers of carbohydrate, of fat and bone metabolism, and, using dual-emission X-ray absorptiometry (DXA), body composition and bone mineral density (BMD). Complete data on changes between baseline and after 21 months treatment were available for 35 patients (16 in the PI group and 19 in the NNRTI group). RESULTS: A significant gain in BMI and in total and lower limb fat mass was recorded only in patients receiving PI. A loss of lumbar BMD was observed in both groups, being higher with PI. Plasma markers of bone metabolism (alkaline phosphatase, osteocalcin, collagen crosslaps) and levels of parathormone and of 1,25diOH-vitamin D3 significantly increased in both groups, concomitant with a decline in 25OH-vitamin D3. Lipids and glucose levels increased in both groups but rise in triglyceride was more pronounced with PI. A correlation between loss of BMD and gain of fat mass is observed in patients starting PI. CONCLUSIONS: We evidenced an early effect of ART on lipid and bone metabolisms. PI lead to a significant gain in fat mass correlated with a sharp drop in BMD but active bone remodelling is evident with all antiretroviral treatments, associated with low vitamin D levels and hyperparathyroidism. In parallel, signs of metabolic restoration are evident. However, early increases in lean and fat mass, triglycerides, waist circumference and leptin are much more pronounced with PI