Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil

Low urinary 6-sulphatoxymelatonin concentrations in acute migraine

Substantial evidence points to melatonin as playing a role in the regulation of circadian rhythms, sleep, and headache disorders. The objective of the study was to assess 6-sulphatoxymelatonin (aMT6s) levels in a large consecutive series of patients with migraine, comparing with controls. A total of 220 subjects were evaluated-146 had migraine and 74 were control subjects. Urinary samples were collected into the same plastic container since 8:00 p.m. to 8:00 a.m. of the next day (12-h period) and aMT6s was measured with quantitative ELISA technique. Among patients with migraine, 53% presented pain on the day of the urine samples collection. Their urinary aMT6s concentration was significantly lower than in the urine of patients without pain [14.0 +/- 7.3 vs. 49.4 +/- 19.0; t(143) = -15.1; 95% CI = -40.0 to -30.8; P<0.001]. There was no significant difference in the aMT6s concentration of patients with migraine without pain on the day of their urine samples collection and controls [49.4 +/- 19.0 vs. 42.5 +/- 27.9; t(140) = 1.7; 95% CI = -1.2 to 14.8; P = 0.094]. To our knowledge, this is the first study to demonstrate reduction in melatonin levels during attacks in episodic and chronic migraine.undacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP

Sensitivity to aversive stimulation, posttraumatic symptoms and migraines: What do they have in common?

Studies have suggested that the high comorbidity observed between chronic migraine and anxiety disorders can be mediated through a third factor namely increased sensitivity to aversive stimulation. This trait may predispose for both chronic migraines, through medication overuse as an avoidance response, and anxiety disorders. Additional studies have shown that hyper sensitivity to aversive stimulation, migraine chronification and anxiety disorders share other characteristics such as serotonergic mediation and personality traits. Preliminary analysis of empirical data comparing the frequency the impact of traumatic events over chronic [EM] and episodic migraine [EM] patients gives further support to this hypothesis. in spite of CM and EM did not differ in terms of the occurrence of traumatic events, CM patients that had experienced at least one traumatic event during their lives had higher scores in re-experiencing and avoidance (but not in hyperarousal) symptoms than CM patients. These observations suggest that traumatic events have greater impact over CM than over EM patients. (C) 2011 Elsevier B.V. All rights reserved.Univ São Paulo, Sch Med, Inst Psychiat, São Paulo, BrazilUniv São Paulo, Sch Med, Dept Psychiat, São Paulo, BrazilHosp Israelita Albert Einstein, Inst Ensino & Pesquisa, São Paulo, BrazilUniversidade Federal de São Paulo, EPM, São Paulo, BrazilUniversidade Federal de São Paulo, EPM, São Paulo, BrazilWeb of Scienc

SCS121 CL: Rice cultivar resistant to herbicides of imidazolinone chemical group

Abstract SCS121 CL is a second-generation Clearfield(r) rice cultivar with resistance to herbicides of the imidazolinone group. The cultivar has modern plant type, lodging resistance, late maturity cycle, high yield potential, long grains and good cooking quality. The cultivar is recommended to all rice-producer regions of Santa Catarina, Brazil

SCS118 Marques – New rice cultivar obtained through induced mutation

The new rice cultivar, SCS118 Marques, was obtained through gamma irradiation of SCSBRS Tio Taka cultivar. SCS118 Marques presents modern architecture, lodging resistance, late maturity cycle, moderate resistance to blast, high yield potential, long grains and very high cooking quality. Industrial tests performed with SCS118 Marques showed that grains are suitable for parboiling and white rice, and it is recommended to all rice-producing regions of Santa Catarin