Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: • Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene. • Ataxia is usually not the sole movement abnormality in AOA1. • Hyperkinetic movement disorders, especially chorea and dystonia, may occur. • Mixed and complex movement disorders is not very common in AOA1. • Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1

Surveillance programs for detection and characterization of emergent pathogens and antimicrobial resistance: results from the Division of Infectious Diseases, UNIFESP

Several epidemiological changes have occurred in the pattern of nosocomial and community acquired infectious diseases during the past 25 years. Social and demographic changes possibly related to this phenomenon include a rapid population growth, the increase in urban migration and movement across international borders by tourists and immigrants, alterations in the habitats of animals and arthropods that transmit disease, as well as the raise of patients with impaired host defense abilities. Continuous surveillance programs of emergent pathogens and antimicrobial resistance are warranted for detecting in real time new pathogens, as well as to characterize molecular mechanisms of resistance. In order to become more effective, surveillance programs of emergent pathogens should be organized as a multicenter laboratory network connected to the main public and private infection control centers. Microbiological data should be integrated to guide therapy, adapting therapy to local ecology and resistance patterns. This paper presents an overview of data generated by the Division of Infectious Diseases, Federal University of São Paulo, along with its participation in different surveillance programs of nosocomial and community acquired infectious diseases.Várias alterações epidemiológicas ocorreram no perfil das doenças infecciosas hospitalares e comunitárias nos últimos 25 anos. Mudanças sociais e demográficas possivelmente relacionadas com esse fenômeno incluem o rápido crescimento populacional, o aumento da migração urbana e deslocamento através de fronteiras internacionais por turistas e imigrantes, alterações nos habitats de animais e artrópodes que transmitem doença assim como o aumento no número de pacientes com deficiências nas respostas de defesa. Os programas contínuos de vigilância de patógenos emergentes e resistência antimicrobiana são necessários para a detecção em tempo real de novos patógenos assim como para caracterizar mecanismos moleculares de resistência. Para serem mais efetivos, os programasde vigilância dos patógenos emergentes devem ser organizados em uma rede de laboratórios multicêntricos ligados aos principais centros de controle de infecções, públicos e privados. Os dados microbiológicos devem ser integrados a guias terapêuticos adaptando práticas terapêuticas à ecologia local eaos padrões de resistência. O artigo apresenta uma revisão dos dados gerados pela Disciplina de Infectologia, Universidade Federal de São Paulo (UNIFESP), contemplando sua participação nos diferentes programas de vigilância de doenças infecciosas hospitalares e adquiridas na comunidade.Universidade Federal de São Paulo (UNIFESP) Departamento de Medicina Divisão de Doenças InfecciosasUniversidade Federal de São Paulo (UNIFESP) Departamento de Microbiologia, Imunologia e ParasitologiaUNIFESP, Depto. de Medicina Divisão de Doenças InfecciosasUNIFESP, Depto. de Microbiologia, Imunologia e ParasitologiaSciEL

Prevalência e fatores associados aos comportamentos sedentários em adolescentes

OBJETIVO Analisar a prevalência e fatores associados aos comportamentos sedentários em adolescentes. MÉTODOS Estudo transversal com adolescentes de 10 a 17 anos de idade, de ambos os sexos, pertencentes a uma coorte de nascimentos entre 1994-1999 na cidade de Cuiabá, Mato Grosso, Brasil. Para o levantamento dos dados, foi utilizado um questionário contendo informações sociodemográficas, econômicas e de estilo de vida e aferição de dados antropométricos. Determinou-se como comportamento sedentário o uso de televisão e/ou computador/vídeo games por um tempo igual ou superior a 4 horas/dia. Avaliou-se a associação de comportamentos sedentários com o índice de massa corporal, tanto na infância quanto na adolescência, e com variáveis sociodemográficas e comportamentais por meio de regressão logística hierarquizada. RESULTADOS A prevalência global de comportamentos sedentários foi de 58,1%. Dos 1.716 adolescentes estudados, 50,7% (n = 870) eram do sexo masculino. Na análise multivariada, após ajuste para fatores de confusão, as variáveis que permaneceram associadas com os comportamentos sedentários foram: idade (14 anos ou mais) (OR = 3,51; IC95% 2,19;5,60); classe econômica elevada (OR = 3,83; IC95% 2,10;7,01); maior nível de escolaridade da mãe (OR = 1,81; IC95% 1,09;3,01); residir no interior (OR = 0,49; IC95% 0,30;0,81); atividade física insuficiente (OR = 1,25; IC95% 1,02;1,53); experimentação de bebidas alcoólicas (OR = 1,34; IC95% 1,08;1,66) e excesso de peso na adolescência (OR = 1,33; IC95% 1,06;1,68). CONCLUSÕES A elevada proporção de adolescentes em atividades sedentárias e a não associação dessas atividades na adolescência com o excesso de peso na infância indicam a necessidade de intervenções para redução de vários comportamentos de risco. O incentivo à prática de atividade física como forma de reduzir os comportamentos sedentários e consequentemente o excesso de peso entre os jovens torna-se fundamental

Postoperative intravenously administered iron sucrose versus postoperative orally administered iron to treat post-bariatric abdominoplasty anaemia (ISAPA): the study protocol for a randomised controlled trial

BACKGROUND: Anaemia and iron deficiency are common complications following post-bariatric abdominoplasty. Given the low oral absorbability of iron resulting from bariatric surgery, it has been hypothesised that postoperative intravenously administered iron supplementation could be used to treat anaemia and to prevent the development of iron deficiency in these patients. METHODS/DESIGN: In this multicentre open-label randomised clinical trial, 56 adult women undergoing post-bariatric anchor-line abdominoplasty will be allocated at a ratio of 1:1 for postoperative supplementation with two intravenously administered applications of 200 mg of iron saccharate or postoperative supplementation with 100 mg of iron polymaltose complex administered orally, twice a day for 8 weeks. The primary outcome is the difference in mean haemoglobin levels between the two groups at eight postoperative weeks. Secondary outcomes evaluated at one, four and eight postoperative weeks include iron profile, reticulocyte count, overall quality of life measured using the Short-Form 36 Health Survey (SF-36) questionnaire, fatigue measured using the Functional Assessment of Chronic Illness Therapy – Fatigue (FACIT-F), adverse effects and postoperative complications. DISCUSSION: This randomised clinical trial aims to evaluate the haematopoietic effectiveness of intravenously administered iron supplementation in patients undergoing post-bariatric abdominoplasty. A more effective recovery of haemoglobin levels could help improve the patients’ quality of life and could provide an improved haematological status in preparation for the subsequent and frequent plastic surgeries these patients undergo. TRIAL REGISTRATION: Clinicaltrials.gov Identifier: NCT01857011 (8 May 2013), Universal Trial Number U111-1169-6223, Brazilian Clinical Trials Registry (REBEC): RBR-2JGRKQ

Acidithiobacillus ferrooxidans metabolism: from genome sequence to industrial applications

<p>Abstract</p> <p>Background</p> <p><it>Acidithiobacillus ferrooxidans </it>is a major participant in consortia of microorganisms used for the industrial recovery of copper (bioleaching or biomining). It is a chemolithoautrophic, γ-proteobacterium using energy from the oxidation of iron- and sulfur-containing minerals for growth. It thrives at extremely low pH (pH 1–2) and fixes both carbon and nitrogen from the atmosphere. It solubilizes copper and other metals from rocks and plays an important role in nutrient and metal biogeochemical cycling in acid environments. The lack of a well-developed system for genetic manipulation has prevented thorough exploration of its physiology. Also, confusion has been caused by prior metabolic models constructed based upon the examination of multiple, and sometimes distantly related, strains of the microorganism.</p> <p>Results</p> <p>The genome of the type strain <it>A. ferrooxidans </it>ATCC 23270 was sequenced and annotated to identify general features and provide a framework for <it>in silico </it>metabolic reconstruction. Earlier models of iron and sulfur oxidation, biofilm formation, quorum sensing, inorganic ion uptake, and amino acid metabolism are confirmed and extended. Initial models are presented for central carbon metabolism, anaerobic metabolism (including sulfur reduction, hydrogen metabolism and nitrogen fixation), stress responses, DNA repair, and metal and toxic compound fluxes.</p> <p>Conclusion</p> <p>Bioinformatics analysis provides a valuable platform for gene discovery and functional prediction that helps explain the activity of <it>A. ferrooxidans </it>in industrial bioleaching and its role as a primary producer in acidic environments. An analysis of the genome of the type strain provides a coherent view of its gene content and metabolic potential.</p