Focal Task-specific Dystonia among Professional Musicians in Latin America

The authors read with great interest the article ‘‘Focal Task-specific Dystonia— From Early Descriptions to a New, Modern Formulation’’ by Frucht, which presented a new working conceptual model of focal taskspecific dystonia (FTSD) attempting to integrate phenomenology, physiology, and treatment. Nevertheless, several aspects of FTSD remain unresolved, and Frucht suggests that international working groups focusing on musician’s dystonia (MD) could contribute to better understanding in the field. The estimated prevalence of FTSD is 0.5–1% for all professional musicians, although there is wide variation in different populations and in the type of instrument played.2–5 To investigate the data available from their region, the authors conducted a systematic search of MD in Latin America. The Medline, EMBASE, and LILACS databases were explored using the subject terms musician’s dystonia Latin America, focal dystonia Latin America, and prevalence studies of FTSD in highly skilled musicians from Latin America. The authors searched for articles in English and in Spanish. Data from Latin American countries about MD are scarce, and only isolated reports or small series of cases were found in the English literature

Telemedicine Enables Broader Access to Movement Disorders Curricula for Medical Students

Background: The impact of tele-education for movement disorders on medical students is unknown. The present study had three objectives. First, to create a tele-education program for medical students in regions with limited access to movement disorders curricula. Second, to analyze the feasibility, satisfaction, and improvement of medical knowledge. Third, to assess the main reasons of medical students for attending this course. Methods: In 2016, a program was piloted in a low-middle income (Cameroon) and a middle-high income (Argentina) country. Medical students were offered a free movement disorder tele-education program (four medical schools in Argentina, and 1 medical school in Cameroon). Six real-time videoconferences covering hyperkinetic and hypokinetic movement disorders were included. Evaluations included attendance, pre- and post-medical knowledge, and satisfaction questionnaires. Results: The study included 151 undergraduate medical students (79.4% from Argentina, 20.6% from Cameroon). Feasibility was acceptable with 100% and 85.7% of the videoconferences completed in Argentina and Cameroon, respectively. Attendance was higher in Argentina compared to Cameroon (75% vs. 33.1%). According to student reports, the topics and innovative educational environment were the main reasons for attendance. Both groups ranked satisfaction as moderate to high, and medical knowledge improved similarly in both countries. Discussion: Tele-education can improve movement disorders knowledge in medical schools in high-middle and low-middle income countries lacking access to other educational opportunities

Assessment of Corticoadrenal Reserve Through Salivary Steroids

Recent reports have reinforced the usefulness of salivary cortisol (SAF) in the evaluation of cortisol dynamics and the diagnosis of Cushing syndrome. However few data are available on the usefulness of SAF and salivary aldosterone (SAL) in response to corticotrophin (ACTH) stimulus. The aim of the authors ‘ study was to standardize the response of SAF and SAL to the intramuscular injection of 250 mg of synthetic human ACTH in 21 healthy patients. Salivary samples were obtained in baseline conditions and during 30,60,90,120 minutes after ACTH administration. The results showed that all healthy  volunteers achieved SAF and SAL concentrations of at least 40.0 nmol/L and 100.0 pmol/L , respectively , after the stimulus. The clinical usefulness of this test was confirmed when patients with known adrenal dysfunction were studied. In three patients with primary adrenal insufficiency, blunted SAF and SAL responses were obtained. Six patients with secondary adrenal insufficiency demonstrated subnormal or blunted SAF and normal SAL responses after ACTH stimulation. Corticoadrenal reserve can be easily , noninvasively, and accurately investigated through the simultaneous measurement of salivary cortisol and aldosterone in response to corticotrophin. Salivary aldosterone was helpful in the differential diagnosis of adrenocortical hypofunction.Fil: Cardoso, Estela M. del Luján. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Persi, Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Arregger, Alejandro Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Contreras, Liliana Noemí. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentin

Focal Task-specific Dystonia among Professional Musicians in Latin America

This letter was written in response to:Frucht SJ. Focal task-specific dystonia&mdash;from early descriptions to a new, modern formulation. Tremor Other Hyperkinet Mov. 2014; 4. doi:&nbsp;10.7916/D8VD6WHP</p

A new less-invasive and more informative low-dose ACTH test: salivary steroids in response to intramuscular corticotrophin

Objective: The intravenous low‐dose ACTH test has been proposed as a sensitive tool to assess adrenal function through circulating steroids. The aims of this study were to: (a) find the minimal intramuscular ACTH dose that induced serum and salivary cortisol and aldosterone responses equivalent to those obtained after a pharmacological dose of ACTH; and (b) define the minimum normal salivary cortisol and aldosterone responses in healthy subjects to that dose of ACTH. We also compared the performances of the standard‐ and low‐dose ACTH intramuscular tests to screen patients with known hypothalamo–pituitary–adrenal impairments. Design: Rapid ACTH tests were performed in individuals using various intramuscular doses (12·5, 25 and 250 µg) at 2‐week intervals. Subjects: Twenty‐one healthy volunteers and 19 patients with primary (nine cases) and secondary (10 cases) adrenal insufficiency. Measurement: Serum and salivary cortisol and aldosterone concentrations were measured at baseline and after ACTH. Serum cortisol ≥ 552·0 nmol/l and aldosterone ≥ 555·0 pmol/l concentrations at 30 min after 250 µg of ACTH were defined as normal responses. Results: In healthy volunteers cortisol and aldosterone responded to ACTH in a dose‐dependent manner. The time to peak in saliva for each steroid was delayed as the dose of ACTH increased. The minimum ACTH dose that produced equivalent steroid responses at 30 min to 250 µg of ACTH (standard‐dose test; SDT) was 25 µg (low‐dose test; LDT). Saliva collection 30 min after LDT and SDT showed cortisol and aldosterone concentrations of at least 20·0 nmol/l and 100·0 pmol/l, respectively. These values were defined as normal steroid responses. Blunted salivary steroid responses to LDT and SDT were found in all patients with primary adrenal insufficiency. Subnormal salivary cortisol levels in response to LDT and SDT were found in all patients with secondary adrenal insufficiency. In five patients full recovery of adrenal function was demonstrated by both tests after steroid withdrawal. In the follow‐up of four patients studied during the recovery period, subnormal SAF response after LDT and normal after SDT was demonstrated. Preservation of the adrenal glomerulosa was found in all the patients with secondary adrenal insufficiency through the normal rise in salivary aldosterone after both LDT and SDT. Conclusions: Adrenal function can be accurately investigated with simultaneous measurements of salivary cortisol and aldosterone in response to 25 µg of corticotrophin injected into the deltoid muscle. Our data suggest that this may become a useful and relatively noninvasive clinical tool to detect subclinical hypoadrenal states.Fil: Contreras, Liliana Noemí. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Arregger, Alejandro Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Persi, Gabriel. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Gonzalez, Soledad Natalia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Cardoso, Estela M. del Luján. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentin

Juvenile Huntington disease in Argentina

ABSTRACT We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors