Dystonia: diagnosis and management Albanese, A.; Di Giovanni, M.; Lalli, S.
European journal of neurology,
January 2019, Letnik:
26, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Clinical practice in dystonia has greatly evolved in recent years; a synthetic review on patient management is provided here. Dystonia is a movement disorder characterized by sustained or ...intermittent muscle contractions causing abnormal, often repetitive, movements, postures or both. A recent classification has innovated clinical practice and serves as guidance for clinical assessment: Axis I describes clinical features, whereas Axis II indicates etiology. Dystonia presents with different syndromic aggregations with varied somatic involvement and some common features. There are five recognizable physical signs of dystonia: two main signs (dystonic postures and movements) and three additional signs (gestes antagonistes or tricks, mirror dystonia and overflow dystonia). There is still no validation of diagnostic criteria for the different dystonia syndromes, and many cases with mild phenomenology remain undiagnosed. Patients with dystonia also present non‐motor features that are variably combined with the movement disorder. The features of the most common inherited and acquired dystonia syndromes are reviewed here. There is clear evidence of genetic–environmental interaction in the determinism of dystonia. The diagnostic process is guided by clinical examination and based on specific laboratory examinations. Symptomatic treatments are available for dystonia: botulinum neurotoxin injections are the primary choice for most focal dystonia syndromes; deep brain stimulation is useful in some generalized and non‐generalized syndromes. Additional treatment strategies are currently being assessed.
Background. Invasive group A Streptococcus (GAS) infection causes significant morbidity and mortality in the United States. We report the current epidemiologic characteristics of invasive GAS ...infections and estimate the potential impact of a multivalent GAS vaccine. Methods. From January 2000 through December 2004, we collected data from Centers for Disease Control and Prevention's Active Bacterial Core surveillance (ABCs), a population-based system operating at 10 US sites (2004 population, 29.7 million). We defined a case of invasive GAS disease as isolation of GAS from a normally sterile site or from a wound specimen obtained from a patient with necrotizing fasciitis or streptococcal toxic shock syndrome in a surveillance area resident. All available isolates were emm typed. We used US census data to calculate rates and to make age- and race-adjusted national projections. Results. We identified 5400 cases of invasive GAS infection (3.5 cases per 100,000 persons), with 735 deaths (case-fatality rate, 13.7%). Case-fatality rates for streptococcal toxic shock syndrome and necrotizing fasciitis were 36% and 24%, respectively. Incidences were highest among elderly persons (9.4 cases per 100,000 persons), infants (5.3 cases per 100,000 persons), and black persons (4.7 cases per 100,000 persons) and were stable over time. We estimate that 8950–11,500 cases of invasive GAS infection occur in the United States annually, resulting in 1050–1850 deaths. The emm types in a proposed 26-valent vaccine accounted for 79% of all cases and deaths. Independent factors associated with death include increasing age; having streptococcal toxic shock syndrome, meningitis, necrotizing fasciitis, pneumonia, or bacteremia; and having emm types 1, 3, or 12. Conclusions. GAS remains an important cause of severe disease in the United States. The introduction of a vaccine could significantly reduce morbidity and mortality due to these infections.
Background. Group B Streptococcus (GBS), traditionally considered to be a neonatal pathogen, is an important cause of morbidity and mortality among older adults and among those with underlying ...medical conditions. We used population-based surveillance to examine trends in adult GBS disease during the period 1990–2007 and to describe the epidemiology of adult GBS disease to guide prevention efforts. Methods. Active Bacterial Core surveillance was conducted in selected counties in 10 US states. A case was defined as isolation of GBS from a normally sterile site in a nonpregnant resident of a surveillance area who was ⩾18 years of age. Rates were calculated using US Census data. Demographic and clinical information was abstracted from medical records. Serotyping and susceptibility testing were performed on isolates collected from a subset of case patients. Results. A total of 19,512 GBS cases were identified in nonpregnant adults during 1990–2007 (median patient age, 63 years); the incidence of adult GBS disease doubled from 3.6 cases per 100,000 persons during 1990 to 7.3 cases per 100,000 persons during 2007 (P<.001). The mean difference in incidence between black and white persons was 4.6 cases per 100,000 persons (range, 3.1 cases per 100,000 persons during 1991 to 5.8 cases per 100,000 persons during 1999). Common clinical syndromes in 2007 included bacteremia without focus (39.3%), skin and/or soft-tissue infection (25.6%), and pneumonia (12.6%). Most (88.0%) GBS cases in adults had ⩾1 underlying condition; diabetes was present in 44.4% of cases. Serotypes V, Ia, II, and III accounted for 80.8% of infections during 1998–1999 and 78.5% of infections during 2005–2006. Conclusions. Invasive GBS disease in nonpregnant adults represents a substantial and increasing burden, particularly among older persons, black persons, and adults with diabetes. Prevention strategies are needed.
The aim of this review was to provide strong clinical evidence of the efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in isolated inherited or idiopathic dystonia. ...Eligible studies were identified after a systematic literature review of the effects of bilateral GPi‐DBS in isolated dystonia. Absolute and percentage changes from baseline in the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS) motor and disability scores were pooled, and associations between treatment effect and patient characteristics were explored using meta‐regression. In total, 24 studies were included in the meta‐analysis, comprising 523 patients. The mean absolute and percentage improvements in BFMDRS motor score at the last follow‐up (mean 32.5 months; 24 studies) were 26.6 points 95% confidence interval (CI), 22.4–30.8 and 65.2% (95% CI, 59.6–70.7), respectively. The corresponding changes in disability score at the last follow‐up (mean 32.9 months; 14 studies) were 6.4 points (95% CI, 5.0–7.8) and 58.6% (95% CI, 50.3–66.9). Multivariate meta‐regression of absolute scores indicated that higher BFMDRS motor and disability scores before surgery, together with younger age at time of surgery, were the main factors associated with significantly better DBS outcomes at the latest follow‐up. Reporting of safety data was frequently inconsistent and could not be included in the meta‐analysis. In conclusion, patients with isolated inherited or idiopathic dystonia significantly improved after GPi‐DBS. Better outcomes were associated with greater dystonia severity at baseline. These findings should be taken into consideration for improving patient selection for DBS.
Performance of MRE-based Vibration Absorbers Lerner, A. Albanese; Cunefare, K.A.
Journal of intelligent material systems and structures,
05/2008, Letnik:
19, Številka:
5
Journal Article
Recenzirano
The purpose of this work is to use magnetorheological elastomers (MREs) as field-dependent springs within three vibration absorber configurations, and to determine their vibration absorption ...characteristics. Magnetorheological elastomers are fabricated from silicone gel and iron microparticles, and implemented as tunable springs in three vibration absorber configurations, which excited the MREs in shear, squeeze mode, and compression. Each vibration absorber configuration exploits different magneto-mechanical properties, achieving very different results. The MRE iron concentration is varied to find the largest natural frequency shift for the squeeze-mode absorber due to an applied magnetic field. Absorbers with MREs containing 35% iron by volume exhibits the largest natural frequency shift, 507%. MREs containing 35% iron are placed into shear and longitudinal mode vibration absorber devices, which exhibit 470% and 180% frequency increases, respectively.
Objectives: To provide a revised version of earlier guidelines published in 2006.
Background: Primary dystonias are chronic and often disabling conditions with a widespread spectrum mainly in young ...people.
Diagnosis: Primary dystonias are classified as pure dystonia, dystonia plus or paroxysmal dystonia syndromes. Assessment should be performed using a validated rating scale for dystonia. Genetic testing may be performed after establishing the clinical diagnosis. DYT1 testing is recommended for patients with primary dystonia with limb onset before age 30, and in those with an affected relative with early‐onset dystonia. DYT6 testing is recommended in early‐onset or familial cases with cranio‐cervical dystonia or after exclusion of DYT1. Individuals with early‐onset myoclonus should be tested for mutations in the DYT11 gene. If direct sequencing of the DYT11 gene is negative, additional gene dosage is required to improve the proportion of mutations detected. A levodopa trial is warranted in every patient with early‐onset primary dystonia without an alternative diagnosis. In patients with idiopathic dystonia, neurophysiological tests can help with describing the pathophysiological mechanisms underlying the disorder.
Treatment: Botulinum toxin (BoNT) type A is the first‐line treatment for primary cranial (excluding oromandibular) or cervical dystonia; it is also effective on writing dystonia. BoNT/B is not inferior to BoNT/A in cervical dystonia. Pallidal deep brain stimulation (DBS) is considered a good option, particularly for primary generalized or cervical dystonia, after medication or BoNT have failed. DBS is less effective in secondary dystonia. This treatment requires a specialized expertise and a multidisciplinary team.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, which causes coronavirus disease 2019 (COVID-19), is spread primarily through exposure to respiratory droplets from close ...contact with an infected person. To inform prevention measures, we conducted a case-control study among Colorado adults to assess the risk of SARS-CoV-2 infection from community exposures.
Cases were symptomatic Colorado adults (aged ≥18 years) with a positive SARS-CoV-2 test by reverse transcription-polymerase chain reaction (RT-PCR) reported to Colorado's COVID-19 surveillance system. From March 16 to December 23, 2021, cases were randomly selected from surveillance data ≤12 days after their specimen collection date. Cases were matched on age, zip code (urban areas) or region (rural/frontier areas), and specimen collection date with controls randomly selected among persons with a reported negative SARS-CoV-2 test result. Data on close contact and community exposures were obtained from surveillance and a survey administered online.
The most common exposure locations among all cases and controls were place of employment, social events, or gatherings and the most frequently reported exposure relationship was co-worker or friend. Cases were more likely than controls to work outside the home (adjusted odds ratio (aOR) 1.18, 95% confidence interval (CI): 1.09-1.28) in industries and occupations related to accommodation and food services, retail sales, and construction. Cases were also more likely than controls to report contact with a non-household member with confirmed or suspected COVID-19 (aOR 1.16, 95% CI: 1.06-1.27).
Understanding the settings and activities associated with a higher risk of SARS-CoV-2 infection is essential for informing prevention measures aimed at reducing the transmission of SARS-CoV-2 and other respiratory diseases. These findings emphasize the risk of community exposure to infected persons and the need for workplace precautions in preventing ongoing transmission.
Abstract Background Deep Brain Stimulation of the Subthalamic Nucleus (STN-DBS) is an effective treatment for Parkinson's disease (PD), but only few studies investigated its long-term efficacy. ...Furthermore, little is known about the role of PD-subtype on STN-DBS long-term outcome. Objective To report the results of a long-term follow-up (mean 11 years, range 10–13) on 26 patients bilaterally implanted in two centres. Methods Patients were assessed preoperatively and 1, 5 and 11 years after the implant by the Unified Parkinson's Disease Rating Scale (UPDRS) and a battery of neuropsychological tests. Stimulation parameters, drugs dosages, non-motor symptoms and adverse events were also recorded. Results At 11 years, stimulation significantly improved the motor symptoms by 35.8%, as compared to the preoperative off-state. Motor complications were well controlled, with a 84.6% improvement of dyskinesias and a 65.8% improvement of motor fluctuations. Despite this, the UPDRS-II-on score worsened by 88.5%, mainly for the worsening of poorly levodopa-responsive symptoms. More than 70% of the patients performed in the normal range in most of the neuropsychological tests, despite the development of dementia in 22.7%. Age at disease onset, axial subscore in off-condition and presence of REM behaviour disorder at baseline were found to be associated with a higher risk of developing disability over time. Conclusions Our study confirms the long-term safety and efficacy of STN-DBS in PD. Nevertheless, the functionality of patients worsens over time, mainly for the onset and progression of levodopa-resistant and non-motor symptoms. The role of PD-subtype seems to be relevant in the long-term outcome.
Background and purpose
Tauroursodeoxycholic acid (TUDCA) is a hydrophilic bile acid that is produced in the liver and used for treatment of chronic cholestatic liver diseases. Experimental studies ...suggest that TUDCA may have cytoprotective and anti‐apoptotic action, with potential neuroprotective activity. A proof of principle approach was adopted to provide preliminary data regarding the efficacy and tolerability of TUDCA in a series of patients with amyotrophic lateral sclerosis (ALS).
Methods
As a proof of principle, using a double‐blind placebo controlled design, 34 ALS patients under treatment with riluzole who were randomized to placebo or TUDCA (1 g twice daily for 54 weeks) were evaluated after a lead‐in period of 3 months. The patients were examined every 6 weeks. The primary outcome was the proportion of responders those subjects with improvement of at least 15% in the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS‐R) slope during the treatment period compared to the lead‐in phase. Secondary outcomes included between‐treatment comparison of ALSFRS‐R at study end, comparison of the linear regression slopes for ALSFFRS‐R mean scores and the occurrence of adverse events.
Results
Tauroursodeoxycholic acid was well tolerated; there were no between‐group differences for adverse events. The proportion of responders was higher under TUDCA (87%) than under placebo (P = 0.021; 43%). At study end baseline‐adjusted ALSFRS‐R was significantly higher (P = 0.007) in TUDCA than in placebo groups. Comparison of the slopes of regression analysis showed slower progression in the TUDCA than in the placebo group (P < 0.01).
Conclusions
This pilot study provides preliminary clinical data indicating that TUDCA is safe and may be effective in ALS.
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There is a lack of unequivocal evidence basis for selecting the best second conduit in coronary artery bypass grafting (CABG). We thus aimed to perform head-to-head relative effect estimate on ...angiographic outcomes for second conduits, including the right internal mammary artery (RIMA), radial artery (RA), right gastroepiploic artery (RGEA) and saphenous vein graft (SVG) by means of network meta-analysis of randomized controlled trials (RCTs).
Databases were searched for RCTs comparing angiographic outcomes (≥4 weeks) of second conduits in CABG. Odds ratios (95% confidence intervals) were computed with Markov Chain Monte Carlo simulation.
A total of nine RCTs were identified, including 2780 patients and 1620 angiographic results available for analysis to compare RIMA (n=145) versus RA (n=871) versus RGEA (n=92) versus SVG (n=845). The mean time to angiographic follow-up ranged from 1 to 7.7 years. An SVG was significantly associated with a 4-fold (1.67-16.00) and 3-fold (0.78-22.20) increased risk of late (≥4 years) functional graft occlusion when compared with the RIMA and RA, respectively. A RIMA was associated with a non-significant 27% absolute risk reduction for functional graft occlusion when compared with the RA.
The present network meta-analysis consistently demonstrated an angiographic superiority of RIMA and RA over SVG. The RIMA is expected to achieve a better patency rate than the RA, but further studies are needed.
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