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GNAL was identified as a cause of dystonia in patients from North America, Europe and Asia. In this study, we aimed to investigate the prevalence of GNAL variants in Brazilian patients with dystonia. Ninety-one patients with isolated idiopathic dystonia, negative for THAP1 and TOR1A mutations, were screened for GNAL variants by Sanger sequencing. Functional characterization of the Gαolf protein variant was performed using the bioluminescence resonance energy transfer assay. A novel heterozygous nonsynonymous variant (p.F133L) was identified in a patient with cervical and laryngeal dystonia since the third decade of life, with no family history. This variant was not identified in healthy Brazilian controls and was not described in 63000 exomas of the ExAC database. The F133L mutant exhibited significantly elevated levels of basal BRET and severely diminished amplitude of response elicited by dopamine, that both indicate su bstantial functional impairment of Gαolf in transducing receptor signals, which could be involved in dystonia pathophysiology. GNAL mutations are not a common cause of dystonia in the Brazilian population and have a lower prevalence than THAP1 and TOR1A mutations. We present a novel variant that results in partial Gαolf loss of function.

Objective:to report four novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization.Background:DYT-TUBB4A, formerly known as DYT4, has only been described in one large family and two individual cases. The clinical picture highlighted in the original family comprises laryngeal and cervical dystonia extending to generalized dystonia, plus a “hobby horse” gait disorder. The variant identified as causative in the original family was a heterozygous missense mutation R2G in exon 1 of the TUBB4A gene.Methods:we screened four families including a total of eleven definitely affected members with a clinical picture resembling the original description.Results:four novel variants in the TUBB4A gene have been identified: D295N, R46M, Q424H, R121W . In silico modeling showed that all variants have similar characteristics to R2G. The variants segregate with the disease in three of the families with evidence of incomplete penetrance in two of them. All four variants would be classified as likely pathogenic. The clinical picture particularly included laryngeal dystonia (often the site of onset), associated with cervical and upper limb dystonia and frequent generalization. Laryngeal dystonia was extremely prevalent (>90%) both in the original cases and in this case series. The “hobby horse” gait was evident in only one patient in this case series. Interpretation: laryngeal involvement is a hallmark feature of DYT-TUBB4A. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia.

Although the Management Oversight and Risk Tree (MORT) method is considered a respected analytical procedure to investigate causes and contributing factors of accidents and incidents in different types of businesses, its application in Supply Chain Risk Management was not found in the literature (SCRM). Given this gap, the general objective of this research is to analyze the applicability of the MORT Method in SCRM. Methodologically, the research was supported by an in-depth case study in a cylinder requalification company located in Rio de Janeiro (Brazil). The case study included document analysis, direct observation and structured interviews based on questions previously defined by the MORT Method. As the main theoretical contribution, the research applied, in an innovative way, the MORT Method in SCRM. As the main practical contribution, sequenced, detailed and exemplified steps were developed, so that the MORT Method can be reproduced by other professionals in supply chains. As a limitation, it is observed that the case study only covers the cylinder requalification process, focusing on endogenous risks and failing to address exogenous risks in the supply chain. As a main result, it was possible to identify all the factors that contributed to the damage to cylinder valves; damage that has the potential to have severe consequences for other companies in the supply chain.Keywords Supply chain risk management • SCRM • Supply chain management • Risk analysis • Management oversight and risk tree • MORT method

A radiografia panorâmica (RP) é um dos exames radiográficos mais utilizados em odontologia, analisa estruturas ósseas como o Seio Maxilar (SM) e suas extensões. O objetivo é analisar nas RPs, os principais tipos de extensões em SMs como, extensões alveolares e anteriores, perda dentária, relação entre a tuberosidade e a presença dos terceiros molares. Neste estudo de delineamento transversal e abordagem quantitativa, retrospectivo, por amostra de conveniência, verificou-se as RPs da Clínica de Radiologia da Universidade Tiradentes nos anos de 2019 e 2021, selecionando pacientes acima de 18 anos, examinando 484 radiografias e 968 SMs. Na associação entre as variáveis, utilizou-se o teste não paramétrico Qui-quadrado, com nível de significância estatística em p<0,05. Os dados mostraram predominância ao gênero feminino (63,6%) com preminência de extensões alveolares (76,7%), e maior prevalência nos indivíduos de 18 a 30 anos (44%). No quesito lado afetado, verificou-se 350 extensões alveolares (79,94%) bilateralmente, quando associadas a perda dentária, totalizaram 55,1%, entretanto 44,9% exibiram prolongamento com a presença de dente. A relação entre a frequência da extensão para tuberosidade associada à ausência de terceiros molares totalizou 79 seios, porém 45 seios exibiram extensão com terceiros molares na região. Portanto, houve maior prevalência de extensões alveolares, em mulheres, entre 18 e 30 anos, bilaterais nos maxilares. Em relação à presença do terceiro molar e extensão para tuberosidade, a maioria estava sem a unidade dentária.

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