Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme (R)). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L'Hotel Port Bay in Sao Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.Inst Fernandes Figueira FIOCRUZ, Dept Med Genet, Rio De Janeiro, RJ, BrazilUniv Fed Fluminense, Dept Neurol & NeuroUPC, BR-22031171 Rio De Janeiro, RJ, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilUniv Fed Rio Grande do Norte, Dept Neurol, Caiaco, RN, BrazilClin Marrone, Porto Alegre, RS, BrazilUniv Cuiaba, Dept Neurol, Cuiaba, MT, BrazilUniv Sao Paulo, Dept Neurociencias, BR-14049 Ribeirao Preto, SP, BrazilHosp Base Dist Fed, Serv Neurol, Brasilia, DF, BrazilUniv Fed Parana, Serv Doencas Neuromusculares, BR-80060000 Curitiba, Parana, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilWeb of Scienc

Physical and functional aspects of persons with multiple sclerosis practicing Tai-Geiko: randomized trial

OBJECTIVES: This study aimed to verify the influence of Tai-Geiko on the physical and functional aspects of people with multiple sclerosis (MS). METHODS: This was a parallel-group, randomized trial with two arms. People with MS were allocated to an experimental group (EG) (n=10) and control group (CG) (n=09). The participants received multidisciplinary care supervised by a physiotherapist in the Tai-Geiko exercise. Participants underwent the assessments after the intervention. The Expanded Disability Status Scale (EDSS-maximum score of 6.0), strength test (kgf) using a dynamometer, Timed Up and Go mobility test (TUG), and stabilometric balance test (Platform EMG systems) were evaluated. Demographic data were recorded, including age, sex, comorbidities, lifestyle and classification of MS. Clinical Trials (ReBeC): RBR-4sty47. RESULTS: The EG group improved in 12 variables, and the CG improved in 3 variables. The following values were obtained for pre/postintervention, respectively: EG: lumbar force (38/52 kgf), TUG (11/9 s), locomotion velocity (519/393 ms); double task two (53/39 s); platform stabilometric trajectory: traversed get up (39/26 s) and sit (45/29 s); anteroposterior (AP) amplitude rise (11/8 cm) and sit (12.40/9.94 cm) and anteroposterior frequency rise (1.00/1.56 Hz) and sit (0.8/1.25 Hz) (po0.05); CG: right-hand grip force (26/29 kgf); TUG (9.8 /8.7 s) and AP (11.84 /9.53 cm) stabilometric amplitude at the sitting moment (po0.05), (3.2/5.99 Hz, p=0.01) and sit (3.47/5.01 Hz, p=0.04). CONCLUSION: Tai-Geiko practice can be suggested as complementary exercise in the rehabilitation of persons with MS

Prevalence of epilepsy in a Brazilian semiurban region: an epidemiological study

Objective World Health Organization (WHO) estimates 8/1.000 individuals worldwide suffer from epilepsy, and prevalence in developing countries is usually higher than that in developed countries. According to the United Nations Program for Development in the Human Development Report 2013, Brazil ranks 85th in the Human Development Index (HDI) with a course of “high performance” in human development over the past decades, indicating that the country was able to increase the national income and indicators of health and education were recorded as higher than average. This study aimed to describe prevalence of epilepsy in a Brazilian region of Mato Grosso.Methods A door-to-door survey was conducted in Barra do Bugres in 2011. In phase 1, health agents screened participants using Limoges questionnaire was used to identify patients with epilepsy in tropical regions, and in phase 2, neurological evaluation was performed on the detected cases.Results Of the 30,132 subjects who were screened, 305 were deemed positive and were advanced to phase 2 evaluation. Epilepsy was diagnosed in 241 subjects (76 children and 165 adults), prevalence of epilepsy was 7.8/1000 inhabitants, and the overall prevalence rate of active epilepsy was 5.6/1000 inhabitants. In this study, 55.9% were male, 68.7% were afro-descendant ethnicity and 24.4% were illiterates.Conclusion The present study is the first conducted in a semiurban region of Brazil using a population survey to evaluate epilepsy prevalence rates. These findings suggested that the association between improvements in health conditions and education are important factors for low epilepsy prevalence rates

Perceptions of Modulatory Factors in Migraine and Epilepsy: A Multicenter Study

© Copyright © 2021 Ur Özçelik, Lin, Mameniškienè, Sauter Dalbem, Siqueira, Samaitienė, Vega Zeissig, Fonseca, Mazini Alves, dos Santos Lunardi, de Queiroz, Zubavičiūtė, Wolf and Baykan.Background: Migraine and epilepsy are both common episodic disorders, typically precipitated or inhibited by some modulatory factors (MFs). Objective: To assess the self-perception of MFs in patients with migraine (PWM) compared to patients with epilepsy (PWE) with a standardized protocol in different countries. Methods: Transcultural multicenter comparative cross-sectional study. All consecutive patients who fulfilled the ICHD-3 criteria for migraine and ILAE's criteria for epilepsy, with at least 1 year of follow-up were interviewed with a semi-structured questionnaire on clinical and epidemiological data and were asked to identify all experienced MFs from a provided list. Results: A total of 608 individuals were surveyed at five university referral centers in Brazil, Guatemala, Lithuania and Turkey. Two hundred and nineteen (91.6%) PWM and 305 (82.7%) PWE identified attack precipitating factors (PFs; p < 0.001). The most frequent three PFs reported by epilepsy patients were: “lack of sleep” (56.6%), “emotional stress” (55.3%), “negative feelings” (53.9%), while among migraine patients “emotional stress” (81.6%), “lack of sleep” (77.8%), “negative feelings” (75.7%) were cited. Inhibitory factors (IFs) for the episodes were reported by 68 (28.5%) PWM and 116 (31.4%) PWE. “Darkness” was the most common one, described by 35.6% of PWM whereas “positive feelings” reported by 10.6% of PWE. Most MFs are concordant across the countries but some transcultural differences were noted. Conclusion: The MFs of migraine and epilepsy attacks and their varying frequencies according to different countries were investigated with the same standardized questionnaire, for the first time. MFs were recognized very often in both migraine and epilepsy cohorts, but in distinct disease-specific prevalence, being more frequent in migraine. Recognition of self-perceived MFs may be helpful for the management of both illnesses

The IIDD spectrum in SA: The frequency of all categories and subcategories.

<p>IIDD = inflammatory idiopathic demyelinating disease; ADEM = acute disseminated encephalomyelitis; CIS = clinical isolated syndrome; MS = multiple sclerosis; RRMS = relapsing remitting at onset; PPMS = primary progressive; NMO = neuromyelitis optica; NMOSDs = NMO spectrum disorders; LETM = longitudinally extensive transverse myelitis.</p

Central Nervous System Idiopathic Inflammatory Demyelinating Disorders in South Americans: A Descriptive, Multicenter, Cross-Sectional Study

<div><p>The idiopathic inflammatory demyelinating disease (IIDD) spectrum has been investigated among different populations, and the results have indicated a low relative frequency of neuromyelitis optica (NMO) among multiple sclerosis (MS) cases in whites (1.2%-1.5%), increasing in Mestizos (8%) and Africans (15.4%-27.5%) living in areas of low MS prevalence. South America (SA) was colonized by Europeans from the Iberian Peninsula, and their miscegenation with natives and Africans slaves resulted in significant racial mixing. The current study analyzed the IIDD spectrum in SA after accounting for the ethnic heterogeneity of its population. A cross-sectional multicenter study was performed. Only individuals followed in 2011 with a confirmed diagnosis of IIDD using new diagnostic criteria were considered eligible. Patients’ demographic, clinical and laboratory data were collected. In all, 1,917 individuals from 22 MS centers were included (73.7% female, 63.0% white, 28.0% African, 7.0% Mestizo, and 0.2% Asian). The main disease categories and their associated frequencies were MS (76.9%), NMO (11.8%), other NMO syndromes (6.5%), CIS (3.5%), ADEM (1.0%), and acute encephalopathy (0.4%). Females predominated in all main categories. The white ethnicity also predominated, except in NMO. Except in ADEM, the disease onset occurred between 20 and 39 years old, early onset in 8.2% of all cases, and late onset occurred in 8.9%. The long-term morbidity after a mean disease time of 9.28±7.7 years was characterized by mild disability in all categories except in NMO, which was scored as moderate. Disease time among those with MS was positively correlated with the expanded disability status scale (EDSS) score (r=0.374; p=<0.001). This correlation was not observed in people with NMO or those with other NMO spectrum disorders (NMOSDs). Among patients with NMO, 83.2% showed a relapsing-remitting course, and 16.8% showed a monophasic course. The NMO-IgG antibody tested using indirect immunofluorescence (IIF) with a composite substrate of mouse tissues in 200 NMOSD cases was positive in people with NMO (95/162; 58.6%), longitudinally extensive transverse myelitis (10/30; 33.3%) and bilateral or recurrent optic neuritis (8/8; 100%). No association of NMO-IgG antibody positivity was found with gender, age at onset, ethnicity, early or late onset forms, disease course, or long-term severe disability. The relative frequency of NMO among relapsing-remitting MS (RRMS) + NMO cases in SA was 14.0%. Despite the high degree of miscegenation found in SA, MS affects three quarters of all patients with IIDD, mainly white young women who share similar clinical characteristics to those in Western populations in the northern hemisphere, with the exception of ethnicity; approximately one-third of all cases occur among non-white individuals. At the last assessment, the majority of RRMS patients showed mild disability, and the risk for secondary progression was significantly superior among those of African ethnicity. NMO comprises 11.8% of all IIDD cases in SA, affecting mostly young African-Brazilian women, evolving with a recurrent course and causing moderate or severe disability in both ethnic groups. The South-North gradient with increasing NMO and non-white individuals from Argentina, Paraguay, Brazil and Venezuela confirmed previous studies showing a higher frequency of NMO among non-white populations.</p></div

The IIDD spectrum in SA: The frequency of all categories and subcategories.

<p>IIDD = inflammatory idiopathic demyelinating disease; ADEM = acute disseminated encephalomyelitis; CIS = clinical isolated syndrome; MS = multiple sclerosis; RRMS = relapsing remitting at onset; PPMS = primary progressive; NMO = neuromyelitis optica; NMOSDs = NMO spectrum disorders; LETM = longitudinally extensive transverse myelitis.</p

The IIDD spectrum in SA by ethnicity.

<p>IIDD = inflammatory idiopathic demyelinating disease, MS = multiple sclerosis; NMO = neuromyelitis optica; NMOSD = NMO syndrome; CIS = clinical isolated syndrome; ADEM = acute disseminated encephalomyelitis; acute IIDD with encephalopathy;</p

Demographic, clinical, and laboratory characteristics with regard to NMOSD subcategories.

<p>Differences in totals are due to missing values. Legend. LETM, Longitudinally extensive transverse myelitis; BRON, bilateral recurrent optic neuritis; BS, brainstem syndrome; NMOSD, NMO syndrome; MSRR, relapsing-remitting multiple sclerosis; MSSP, multiple sclerosis secondary progressive</p