Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington's disease.

Huntington's disease (HD) is a neurodegenerative disorder characterized by motor disturbances, cognitive decline, and behaviour changes. A well-recognized feature of advanced HD is dysphagia, which leads to malnutrition and aspiration pneumonia, the latter being the primary cause of death in HD. Previous studies have underscored the importance of dysphagia in HD patients with moderate-to-advanced stage disease, but it is unclear whether dysphagia affects patients already at an early stage of disease and whether genetic or clinical factors can predict its severity. We performed fiberoptic endoscopic evaluation of swallowing (FEES) in 61 patients with various stages of HD. Dysphagia was found in 35% of early-stage, 94% of moderate-stage, and 100% of advanced-stage HD. Silent aspiration was found in 7.7% of early-stage, 11.8% of moderate-stage, and 27.8% of advanced-stage HD. A strong correlation was observed between disease progression and dysphagia severity: worse dysphagia was associated with worsening of motor symptoms. Dysphagia severity as assessed by FEES correlated with Huntington's Disease Dysphagia Scale scores (a self-report questionnaire specific for evaluating swallowing in HD). The present findings add to our understanding of dysphagia onset and progression in HD. A better understanding of dysphagia onset and progression in HD may inform guidelines for standard clinical care in dysphagia, its recognition, and management.

Usability Issues of Clinical and Research Applications of Virtual Reality in Older People: A Systematic Review.

Aging is a condition that may be characterized by a decline in physical, sensory, and mental capacities, while increased morbidity and multimorbidity may be associated with disability. A wide range of clinical conditions (e.g., frailty, mild cognitive impairment, metabolic syndrome) and age-related diseases (e.g., Alzheimer's and Parkinson's disease, cancer, sarcopenia, cardiovascular and respiratory diseases) affect older people. Virtual reality (VR) is a novel and promising tool for assessment and rehabilitation in older people. Usability is a crucial factor that must be considered when designing virtual systems for medicine. We conducted a systematic review with Preferred Reporting Items for Systematic reviews and Meta-analysis (PRISMA) guidelines concerning the usability of VR clinical systems in aging and provided suggestions to structure usability piloting. Findings show that different populations of older people have been recruited to mainly assess usability of non-immersive VR, with particular attention paid to motor/physical rehabilitation. Mixed approach (qualitative and quantitative tools together) is the preferred methodology; technology acceptance models are the most applied theoretical frameworks, however senior adapted models are the best within this context. Despite minor interaction issues and bugs, virtual systems are rated as usable and feasible. We encourage usability and user experience pilot studies to ameliorate interaction and improve acceptance and use of VR clinical applications in older people with the aid of suggestions (VR-USOP) provided by our analysis.

Prevalence of the congenital long-QT syndrome.

BACKGROUND: The prevalence of genetic arrhythmogenic diseases is unknown. For the long-QT syndrome (LQTS), figures ranging from 1:20 000 to 1:5000 were published, but none was based on actual data. Our objective was to define the prevalence of LQTS. METHODS AND RESULTS: In 18 maternity hospitals, an ECG was performed in 44 596 infants 15 to 25 days old (43 080 whites). In infants with a corrected QT interval (QTc) >450 ms, the ECG was repeated within 1 to 2 weeks. Genetic analysis, by screening 7 LQTS genes, was performed in 28 of 31 (90%) and in 14 of 28 infants (50%) with, respectively, a QTc >470 ms or between 461 and 470 ms. A QTc of 451 to 460, 461 to 470, and >470 ms was observed in 177 (0.41%), 28 (0.06%), and 31 infants (0.07%). Among genotyped infants, disease-causing mutations were found in 12 of 28 (43%) with a QTc >470 ms and in 4 of 14 (29%) with a QTc of 461 to 470 ms. One genotype-negative infant (QTc 482 ms) was diagnosed as affected by LQTS on clinical grounds. Among family members of genotype-positive infants, 51% were found to carry disease-causing mutations. In total, 17 of 43 080 white infants were affected by LQTS, demonstrating a prevalence of at least 1:2534 apparently healthy live births (95% confidence interval, 1:1583 to 1:4350). CONCLUSIONS: This study provides the first data-based estimate of the prevalence of LQTS among whites. On the basis of the nongenotyped infants with QTc between 451 and 470 ms, we advance the hypothesis that this prevalence might be close to 1:2000. ECG-guided molecular screening can identify most infants affected by LQTS and unmask affected relatives, thus allowing effective preventive measures.

Postmenopausal hormone therapy and the risk of cardiovascular disease.

Sex hormones exert significant effects on the cardiovascular system. Ovarian hormone deficiency associated with menopause plays an important role in the development of cardiovascular disease in women. The reduced risk of cardiovascular diseases associated with hormone replacement therapy (HRT), reported in observational studies, has not been subsequently confirmed in randomized clinical trials. Therefore, at the present time, HRT is not recommended for postmenopausal women for the prevention of cardiovascular diseases. However, the possible role and safety of HRT in women who experience menopausal symptoms that significantly affect their quality of life is still under debate. The increased risk of cardiovascular disease in the larger randomized trial was found in the oldest women and in those who started HRT late after menopause began. Further basic and clinical studies are necessary to evaluate the mechanisms underlying the possible detrimental or protective effects of HRT and to assess benefits and risks of different dosages, route of administration, and duration of HRT. In the absence of clear evidence on the safest hormone regimen, the prescription of HRT in order to reduce menopausal symptoms should be limited to younger postmenopausal women at low risk for cardiovascular diseases, starting in the period close to the beginning of menopause. The benefit of HRT in relieving menopausal symptoms and reducing the occurrence of hip fractures should be weighted against the increased risk of cardiovascular disease and breast cancer. For this purpose, it is crucial to identify the presence of cardiovascular risk factors in perimenopausal and postmenopausal women. The cardiovascular effects of sex hormones, the increased risk of cardiovascular disease after menopause, and the effects of HRT on cardiovascular risk are critically reviewed, as well as their impact on the recommendations for clinical practice.

Hormone replacement therapy and cardioprotection: a new dawn? A statement of the Study Group on Cardiovascular Disease in Women of the Italian Society of Cardiology on hormone replacement therapy in postmenopausal women.

Cardiovascular disease is the leading cause of death in women in Western countries. Despite preventive strategies, in the past decades the incidence of cardiovascular events has shown a decline in men but a rise in women, matching the growth of the population of postmenopausal women. Several epidemiological findings suggest the causative pathophysiological role of ovarian hormone deficiency in the development of cardiovascular disease in women. Observational and randomized studies have suggested that hormone replacement therapy in early postmenopause could be beneficial from a cardiovascular point of view. Conversely, aging, time since menopause and presence of cardiovascular risk factors or cardiovascular disease may decrease its efficacy and increase the risk of cardiovascular events. It is plausible that the unfavorable effects of the estrogen/progestin combination used in the randomized studies are not related to the hormone preparation per se but rather to the use of hormones in the less receptive group of women, older and with cardiovascular risk factors. Clinical judgment, choice of the right dose and estrogen/progestin combination are of pivotal importance to maximize the beneficial effect of estrogen replacement therapy/hormone replacement therapy, especially if given within a reasonable time after the menopause to women who need the therapy for the relief of menopausal symptoms.

Management of cardiovascular risk in the peri-menopausal woman: a consensus statement of European cardiologists and gynaecologists.

Cardiovascular risk is poorly managed in women, especially during the menopausal transition when susceptibility to cardiovascular events increases. Clear gender differences exist in the epidemiology, symptoms, diagnosis, progression, prognosis, and management of cardiovascular risk. Key risk factors that need to be controlled in the peri-menopausal woman are hypertension, dyslipidaemia, obesity, and other components of the metabolic syndrome, with the avoidance and careful control of diabetes. Hypertension is a particularly powerful risk factor and lowering of blood pressure is pivotal. Hormone replacement therapy is acknowledged as the gold standard for the alleviation of the distressing vasomotor symptoms of the menopause, but the findings of the Women's Health Initiative (WHI) study generated concern for the detrimental effect on cardiovascular events. Thus, hormone replacement therapy cannot be recommended for the prevention of cardiovascular disease. Whether the findings of WHI in older post-menopausal women can be applied to younger peri-menopausal women is unknown. It is increasingly recognized that hormone therapy is inappropriate for older post-menopausal women no longer displaying menopausal symptoms. Both gynaecologists and cardiovascular physicians have an important role to play in identifying peri-menopausal women at risk of cardiovascular morbidity and mortality and should work as a team to identify and manage risk factors such as hypertension.

Effects of treatment with somatostatin analogues on QT interval duration in acromegalic patients.

OBJECTIVE: Cardiovascular disease is a major contributor to the increased mortality of acromegalic patients. Prolongation of the QT interval is considered an established risk factor for potentially fatal cardiac arrhythmias, an event frequently observed in acromegaly. Changes in ventricular repolarization have been observed with the use of octreotide, one of the somatostatin analogues (SSA) currently used for the medical treatment of this disease. Furthermore, octreotide is listed among the drugs able to prolong the QT interval. Thus, we elected to study the effects of long-term SSA administration on QT duration and left ventricular mass (LVM) in a group of acromegalic patients. DESIGN AND PATIENTS: In a retrospective study, 30 acromegalic patients (19 women and 11 men, aged 25-77 years) were studied under basal conditions; 24 of them (15 women and nine men, aged 25-77 years) were studied again after 3-63 months of treatment (median 18 months) with SSA. Twenty-four healthy volunteers served as controls. MEASUREMENTS: Patients and controls underwent electrocardiographic (ECG) analysis, and QT interval duration corrected for heart rate (QTc) was established according to the Bazett formula. In 17 of the SSA-treated patients, M- and B-mode echocardiography for the assessment of LVM index (LVMi) was performed. RESULTS: Baseline QTc was significantly longer in patients than in controls. SSA administration was followed by a significant decrease in QTc, which reached a mean value similar to that measured in the controls. In particular, treatment with SSA normalized QTc in three out of the six patients with abnormally elevated values at baseline. After treatment, a significant reduction in heart rate was recorded, while LVMi displayed a slight but not significant decrease. CONCLUSIONS: Acromegalic patients frequently display an abnormally prolonged QT interval, a known risk factor for potentially fatal arrhythmias. Treatment of these patients with SSA is able to improve and even normalize this alteration, probably contributing to the beneficial effects of these drugs on cardiac rhythm in this endocrine disorder. The inclusion of octreotide in the list of drugs that may increase QTc should be reconsidered as regards its indication in acromegaly.