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Green-hydrogen is considered a "key player" in the energy market for the upcoming decades. Among currently available hydrogen (H2) production processes, photoelectrochemical (PEC) water splitting has one of the lowest environmental impacts. However, it still presents prohibitively high production costs compared to more mature technologies, such as steam methane reforming. Therefore, the competitiveness of PEC water splitting must rely on its environmental and functional advantages, which are strongly linked to the reactor design, to the intrinsic properties of its components, and to their successful upscaling. This review gives special attention to the engineering aspects and categorizes PEC devices into four main types, according to the configuration of electrodes and strategies for gas separation: wired back-to-back, wireless back-to-back, wired side-by-side, and wired separated electrode membrane-free. Independently of the device architecture, the use of concentrated sunlight was found to be mandatory for achieving competitive green-H2 production. Additionally, feasible strategies for upscaling the key components of PEC devices, especially photoelectrodes, are urgently needed. In a pragmatic context, the way to move forward is to accept that PEC devices will operate close to their thermodynamic limits at large-scale, which requires a solid convergence between academics and industry. Research efforts must be redirected to: (i) build and demonstrate modular devices with a low-cost and highly recyclable embodiment; (ii) optimize thermal and power management; (iii) reduce ohmic losses; (iv) enhance the chemical stability towards a thousand hours; (v) couple solar concentrators with PEC devices; (vi) boost PEC-H2 production through the use of organic compounds; and (vii) reach consensual standardized methods for evaluating PEC devices, at both environmental and techno-economic levels. If these targets are not met in the next few years, the feasibility of PEC-H2 production and its acceptance by industry and by the general public will be seriously compromised.
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Correction for 'The route for commercial photoelectrochemical water splitting: a review of large-area devices and key upscaling challenges' by António Vilanova et al., Chem. Soc. Rev., 2024, https://doi.org/10.1039/d1cs01069g.
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INTRODUCTION: Diffusion tensor imaging (DTI) is a valuable non-invasive imaging modality for mapping white matter tracts and assessing microstructural integrity, and can be used as a "biomarker" in diagnosis, differentiation, and therapeutic monitoring. Although it has gained clinical importance as a marker of neuropathology, limitations in its interpretation underscore the need for caution. METHODS: This review provides an overview of the principles and clinical applicability of DTI. We focus on major white matter fiber bundles, detailing their normal anatomy and pathological DTI patterns, with emphasis on tracts routinely requested in our neurosurgical department in the preoperative context (uncinate fasciculus, arcuate fasciculus, pyramidal pathway, optic radiation, and dentatorubrothalamic tract). RESULTS: We guide neuroradiologists and neurosurgeons in defining volumes of interest for mapping individual tracts and demonstrating their 3D reconstructions. The intricate trajectories of white matter tracts pose a challenge for accurate fiber orientation recording, with each bundle exhibiting specific characteristics. Tracts adjacent to brain lesions are categorized as displaced, edematous, infiltrated, or disrupted, illustrated with clinical cases of brain neoplasms. To improve structured reporting, we propose a checklist of topics for inclusion in imaging evaluations and MRI reports. CONCLUSION: DTI is emerging as a powerful tool for assessing microstructural changes in brain disorders, despite some challenges in standardization and interpretation. This review serves an educational purpose by providing guidance for fiber monitoring and interpretation of pathological patterns observed in clinical cases, highlighting the importance and potential pitfalls of DTI in neuroradiology and surgical planning.
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Imagem de Tensor de Difusão , Substância Branca , Humanos , Imagem de Tensor de Difusão/métodos , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Cuidados Pré-Operatórios/métodos , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Imageamento Tridimensional/métodosRESUMO
AMP-activated protein kinase (AMPK) regulates many different metabolic pathways in eukaryote cells including mitochondria biogenesis and energy homeostasis. Here we identify a patient with hypotonia, weakness, delayed milestones and neurological impairment since birth harbouring a novel homozygous mutation in the AMPK catalytic α-subunit 1, encoded by the PRKAA1 gene. The homozygous mutation p.S487L in isoform 1 present in the patient is in a cryptic residue for AMPK activity. In the present study, we performed the characterization of mitochondrial respiratory properties of the patient, in comparison to healthy controls, through the culture of skin fibroblasts in order to understand some of the cellular consequences of the PRKAA1 mutation. In these assays, mitochondrial respiratory complex I showed lower activity, which was followed by a decrement in the mtDNA copy number, which is a probable consequence of the lower expression of PGC-1α and PRKAA1 itself as measured in our quantitative PCRs experiments. Confirming the effect of the patient mutation in respiration, transfection of patient fibroblasts with wild type PRKAA1 partially restore complex I level. The preliminary clinic evaluations of the patient suggested a metabolic defect related to the mitochondrial respiratory function, therefore treatment with CoQ10 supplementation dose started four years ago and a clear improvement in motor skills and strength has been achieved with this treatment.
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Proteínas Quinases Ativadas por AMP , Fibroblastos , Homozigoto , Mitocôndrias , Mutação de Sentido Incorreto , Consumo de Oxigênio , Proteínas Quinases Ativadas por AMP/genética , Proteínas Quinases Ativadas por AMP/metabolismo , Substituição de Aminoácidos , Pré-Escolar , Complexo I de Transporte de Elétrons/genética , Complexo I de Transporte de Elétrons/metabolismo , Fibroblastos/metabolismo , Fibroblastos/patologia , Humanos , Masculino , Mitocôndrias/genética , Mitocôndrias/metabolismo , Mitocôndrias/patologia , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/genética , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/metabolismoRESUMO
The influence of a substrate on the performance of WO3 photoanodes is assessed as a function of temperature. Two samples were studied: WO3 deposited on a FTO glass and anodized on a tungsten foil. Current-voltage curves and electrochemical impedance spectroscopy measurements were used to characterize these samples between 25 °C and 65 °C. The photocurrent density increased with temperature for both samples and the onset potential shifted to lower potentials. However, for WO3/FTO, a negative shift of the dark current onset was also observed. The intrinsic resistivity of this substrate limits the photocurrent plateau potential range. On the other hand, this behavior was not observed for WO3/metal. Therefore, the earlier dark current onset observed for WO3/FTO was assigned to the FTO layer. The optimal operating temperatures observed were 45 °C and 55 °C for WO3/FTO and WO3/metal, respectively. For higher temperatures, the bulk electron-hole recombination phenomenon greatly affects the overall performance of WO3 photoanodes. The stability behavior was then studied at these temperatures over 72 h. For WO3/FTO, a crystalline-to-amorphous phase transformation occurred during the stability test, which may justify the current decrease observed after the aging period. The WO3/metal remained stable, maintaining its morphology and good crystallinity. Interestingly, the preferential orientation of the aged crystals was shifted to the (-222) and (222) planes, suggesting that this was responsible for its better and more stable performance. These findings provide crucial information for allowing further developments on the preparation of WO3 photoanodes, envisaging their commercial application in PEC water splitting cells.
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The electrochemical behavior of α-Fe2O3 photoelectrodes prepared by spray pyrolysis with different thicknesses was examined under dark and illumination conditions. The main charge transport phenomena occurring in the PEC cell photoelectrodes were characterized by electrochemical impedance spectroscopy (EIS) operating under dark conditions. The impedance spectra were fitted to an equivalent electrical circuit model for obtaining relevant information concerning reaction kinetics and charge transfer phenomena occurring at the semiconductor/electrolyte interface. A three-electrode configuration was used to carry out the electrochemical measurements allowing a detailed study concerning the double charged layer at the semiconductor/electrolyte interface that arises under dark conditions. The model parameters determined by EIS were then related to the film thickness to assess the role of electronic conduction in the performance of the cell. Moreover, by correlating the sample thickness differences with their electrochemical impedance spectroscopy response, it was possible to discriminate the two main phenomena occurring on semiconductor/electrolyte interfaces of photoelectrochemical systems under dark conditions: the space charge layer and the electrical double layer.
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Non-steroidal anti-inflammatory drugs (NSAIDs) are widely used and their gastric, cardiovascular, and renal adverse effects have been well documented. Although rare, NSAID-induced acute eosinophilic pneumonia (AEP) may occur. We report a case of AEP related to naproxen and celecoxib. The patient presented with dry cough and breathlessness two weeks after she started taking these drugs. The chest radiograph displayed bilateral opacities and she had peripheral eosinophilia. Bronchoalveolar lavage was performed at a time when blood eosinophilia was already decreasing and cell analysis revealed 63700 cells/mL with 9% eosinophil. After ruling out other possible etiologies, drug-induced AEP was diagnosed. The patient improved after drug discontinuation. When it comes to drug-induced AEP identifying a causative agent is essential as cessation of the drug is the mainstay of the treatment.
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Neuroendocrine tumors (NETs) are a group of uncommon neoplasms derived from enterochromaffin or Kulchitsky cells (that secrete serotonin or other molecules into the bloodstream), which can manifest with symptoms of hormonal overproduction, namely carcinoid syndrome (CS). This can be the presenting feature in patients with advanced disease. We report the case of a 66-year-old woman presenting with chronic diarrhea, facial venous telangiectasia and elevated urinary 5-hydrocyindoleacetic acid levels. A 68-Ga DOTATOC PET/CT scan revealed an ileal mass and lesions consistent with liver, ovary and bone metastasis. A liver biopsy confirmed the diagnosis of well-differentiated NET G1. Therapy with somatostatin analogs achieved symptom control, but the liver disease progressed and the patient passed away after 2 years of follow-up. The challenge of diagnosing CS resides in its heterogeneous manifestations, which may range from mild to life-threatening conditions. In this case, the cutaneous findings of venous telangiectasia strongly pointed to the correct diagnosis. Treatment can also be difficult due to refractory symptoms and inevitable progression of disease, highlighting the importance of early detection and thorough disease staging.
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Alterations of the glycosylation machinery are common events in cancer, leading to the synthesis of aberrant glycan structures by tumor cells. Extracellular vesicles (EVs) play a modulatory role in cancer communication and progression, and interestingly, several tumor-associated glycans have already been identified in cancer EVs. Nevertheless, the impact of 3D tumor architecture in the selective packaging of cellular glycans into EVs has never been addressed. In this work, the capacity of gastric cancer cell lines with differential glycosylation is evaluated in producing and releasing EVs when cultured under conventional 2D monolayer or in 3D culture conditions. Furthermore, the proteomic content is identified and specific glycans are studied in the EVs produced by these cells, upon differential spatial organization. Here, it is observed that although the proteome of the analyzed EVs is mostly conserved, an EV differential packaging of specific proteins and glycans is found. In addition, protein-protein interaction and pathway analysis reveal individual signatures on the EVs released by 2D- and 3D-cultured cells, suggesting distinct biological functions. These protein signatures also show a correlation with clinical data. Overall, this data highlight the importance of tumor cellular architecture when assessing the cancer-EV cargo and its biological role.
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Vesículas Extracelulares , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/metabolismo , Proteômica , Vesículas Extracelulares/metabolismo , Linhagem Celular , Polissacarídeos/metabolismoRESUMO
The Grupo de Estudos e Pesquisas de Tecnologia da Informação nos Processos de Trabalho em Enfermagem (Study and Research Group for Information Technology in the Nursing Working Processes, GEPETE) has the purpose of producing and socializing knowledge in information technology and health and nursing communication, making associations with research groups in this field and promoting student participation. This study was performed by the group tutors with the objective to report on the development of the virtual learning environment (VLE) and the tutors' experience as mediators of a research group using the Moodle platform. To do this, a VLE was developed and pedagogical mediation was performed following the theme of mentoring. An initial diagnosis was made of the difficulties in using this technology in interaction and communication, which permitted the proposal of continuing to use the platform as a resource to support research activities, offer lead researchers the mechanisms to socialize projects and offer the possibility of giving advice at a distance.
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Educação em Enfermagem , Pesquisa em Enfermagem , Instrução por ComputadorRESUMO
The GnRH agonist buserelin (GnRH), used to synchronize ovulation in weaned sows, attains only 70-80% effectivity, owing to several reasons of ovarian origin. This study evaluated in particular whether mean ovarian follicle size at treatment and the season of weaning are among those influencing GnRH responsiveness. The experiment was carried out in a temperate-region farm with 352 sows of 1-6 parities weaned either in winter-spring (WS, 174 sows) or in summer-autumn (SA, 178 sows). The sows were randomized into two groups: GnRH (10 µg of buserelin acetate at 86 h after weaning, 172 sows) and control (180 sows). The ovaries were transrectally scanned from weaning to ovulation and the sows clustered according to their mean follicular size at treatment time: small (<0.5 cm in diameter), medium (0.5 to 0.64 cm) and large (0.65 to 1.09 cm). In total, 88.33% of the GnRH-treated sows ovulated, with 82% of them within the expected time window (120-132 h after weaning). In contrast, 95.45% of the unresponsive sows had small follicles at the time of treatment and were mostly weaned in SA (20.45%) than in WS (4.76%). In conclusion, the conspicuous presence of sows having small ovarian follicles at treatment time compromises the efficiency of the GnRH agonist buserelin to synchronize ovulation in weaned sows, which occurs more frequently in summer-autumn weaning.
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Factors causing variability in ovarian follicle size among weaned sows are not well known. This field study aimed to disclose influencing factors and evaluate if the differences at weaning were established during lactation. Ovaries were scanned using transrectal ultrasound. The first experiment was conducted over a year with 191 randomly chosen sows that were hierarchically grouped (p < 0.001) according to ovarian follicle diameter reached at weaning: Small (0.20-0.30 cm; n = 37), medium (0.31-0.39 cm; n = 75), and large (0.40-1.00 cm; n = 69). Sows with small follicles showed a higher incidence of post-weaning anestrus (p < 0.01), longer wean-to-estrus/ovulation intervals (p < 0.01) and farrowing smaller litters (p < 0.05). Ovaries with small follicles were more common among sows weaned in summer-autumn than in winter-spring (p < 0.01) and among sows of lower parity (1-3) (p < 0.05). In the second experiment, with 40 sows randomly chosen at farrowing, the ovaries were scanned at 7, 14, and 21 d post-partum. Sows showed great variability in ovarian follicular size during lactation with a consistent relationship between the three measurement times (r = 0.84, p < 0.01). Follicle size was smaller in sows nursing in summer-autumn than in winter-spring (p < 0.05). In conclusion, early lactation dictates the great variability in ovarian follicular diameter at weaning shown by sows. Sows with smaller follicles at weaning had longer intervals for estrus and ovulation and smaller litters at farrowing and they were in greater numbers among sows weaned during the summer and fall and among those with fewer previous farrowing.
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INTRODUCTION: An ischemic stroke is usually a catastrophic event, mostly in the elderly. Cardiovascular involvement is the leading cause of ischemic stroke in this age population and hence the knowledge about its risk factors is important for the definition of specific policies of prevention. PURPOSE: To evaluate the prevalence of cardiovascular risk factors in patients with age equal to or above 80 in a hospital population with ischemic stroke. METHOD: Retrospective study of consecutive patients diagnosed with ischemic stroke admitted to a tertiary health facility. RESULTS: From September 2004 to March 2006, 215 patients were studied. There was a female preponderance (p<0.01). Among patients over eighty, 72% had hypertension and atrial fibrillation was more common among the oldest old (p<0.01). CONCLUSION: Hypertension and atrial fibrillation should be treated aggressively in the elderly. Anticoagulants should be considered more often in these patients.
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Fibrilação Atrial/complicações , Hospitalização/estatística & dados numéricos , Hipertensão/complicações , Acidente Vascular Cerebral/etiologia , Fatores Etários , Idoso de 80 Anos ou mais , Anticoagulantes/uso terapêutico , Fibrilação Atrial/tratamento farmacológico , Fibrilação Atrial/epidemiologia , Brasil/epidemiologia , Feminino , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/epidemiologia , Masculino , Prevalência , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/prevenção & controleRESUMO
OBJECTIVE: Leigh syndrome is a neurodegenerative disorder with an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no specific treatment, and the prognosis is reserved. This case report aimed familiarize health professionals with the disease. CASE DESCRIPTION: A 16-month-hold girl who was followed in outpatient clinic due to axial hypotonia and delayed psychomotor development. Karyotype, auditory evoked potentials and ophthalmologic evaluation were normal. Evidence of hyperlactacidemia and hypocitrullinemia was detected in the patient. After performing brain magnetic resonance under anesthesia, hypotonia got worse, and the patient was hospitalized after an episode of cyanosis and apnea. The electroencephalogram showed no epileptiform activity. Neuroimaging revealed bilateral lenticular hyperintensity, especially in the putamen and in the left globus pallidus regions. Molecular analysis revealed an 8993T>G (MT-ATP6) mutation in the mitochondrial DNA. COMMENTS: Between 10 and 30% of individuals with Leigh syndrome have mitochondrial DNA mutations. The decompensation after anesthetic intercurrences is typically associated with neurological deterioration and, in this case, increased the diagnosis suspicion. It is important to alert for similar cases and to reduce invasive diagnostic tests if the diagnosis is suspected.
OBJETIVO: A síndrome de Leigh é uma doença neurodegenerativa com incidência de 1:40.000 nados-vivos. Apresenta ampla heterogeneidade clínica, bioquímica e genética, mas com alterações neuropatorradiológicas homogêneas. Não existe tratamento específico, e o prognóstico é reservado. O objetivo deste estudo foi familiarizar os profissionais de saúde com a doença. DESCRIÇÃO DO CASO: Menina de 16 meses, com hipotonia axial e atraso do desenvolvimento psicomotor. Dos exames realizados: cariótipo, potenciais auditivos evocados e avaliação oftalmológica normais; presença de hiperlactacidemia e hipocitrulinemia. Após a realização de ressonância magnética cerebral sob anestesia, observou-se agravamento da hipotonia com necessidade de internação por episódios de cianose/apneia. O eletroencefalograma não mostrou atividade epileptiforme. A neuroimagem revelou hipersinal lenticular bilateral com lesão do putâmen e do globo pálido esquerdo. Encontrou-se a mutação 8993T>G (MT-ATP6) no DNA mitocondrial. COMENTÁRIOS: De 10 a 30% dos doentes com síndrome de Leigh apresentam mutações do DNA mitocondrial. A descompensação com agravamento neurológico após intervenção anestésica está descrita e, nesse caso, apoiou o diagnóstico. Importante alertar para casos semelhantes, com diminuição de exames invasivos para diagnóstico.
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DNA Mitocondrial/genética , Doença de Leigh/genética , Mutação , Feminino , Humanos , LactenteRESUMO
OBJECTIVES: This study aimed to evaluate the first episode of unprovoked epileptic seizure in children and assess recurrence risk factors. METHODS: This was a retrospective observational study, based on the analysis of medical records of patients admitted between 2003 and 2014, with first epileptic seizure, at the pediatric service of a secondary hospital. The data were analyzed using the SPSS 20.0 program. RESULTS: Of the 103 patients, 52.4% were boys. The median age at the first seizure was 59 (1-211) months. About 93% of children were submitted to an electroencephalogram at the first episode and 47% underwent neuroimaging assessment. Treatment with an antiepileptic drug was started in 46% of patients. The recurrence rate was 38% and of these, 80% had the second seizure within six months after the first event. Of the assessed risk factors, there was a statistically significant association between seizure during sleep and recurrence (p=0.004), and between remote symptomatic etiology seizure and occurrence of new seizure (p=0.02). The presence of electroencephalogram abnormalities was also associated with the occurrence of new seizures (p=0.021). No association was found between age, duration of the seizure, and family history of epilepsy with increased risk of recurrence. CONCLUSIONS: Most children with a first unprovoked epileptic seizure had no recurrences. The risk of recurrence was higher in patients with seizure occurring during sleep or remote symptomatic ones and those with abnormal electroencephalogram results.
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Convulsões/epidemiologia , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Masculino , Portugal/epidemiologia , Recidiva , Estudos Retrospectivos , Fatores de RiscoRESUMO
A field study was conducted to estimate seasonal differences in follicular development in weaned sows and to evaluate the implication of these differences on seasonal infertility. A total of 110 sows were selected at weaning during winter-spring (WS, n=58) and summer-autumn (SA, n=52). Ovaries were scanned once daily from weaning to the onset of oestrus and twice daily from then until ovulation. Six sows during WS were removed from study for not showing growing follicles at weaning. Oestrus was evaluated twice daily from day 1 after weaning to day 14 post-weaning. One of 52 (1.9%) sows in WS and 9/52 (17.3%) in SA showed no signs of oestrus within 14 days of weaning (P<0.05). The diameters of the follicles at weaning, at the onset of oestrus and just before ovulation were smaller (P<0.01) in SA sows than in WS sows. There were fewer follicles in SA sows than in WS sows just before ovulation (P<0.05). Fifty of 51 (98.0%) sows in WS and 31/43 (72.1%) sows in SA experienced a weaning-to-oestrus interval (WOI) of 3-6 days (P<0.05). Fifty-one of 52 (98.1%) sows in WS and 43/52 (82.7%) sows in SA were inseminated; the percentage of pregnant sows that failed to farrow was lower in WS (1/51, 2.0%) than in SA (5/43, 11.6%; P<0.05). The percentage of farrowed sows was greater in WS (46/51, 90.2%) than in SA (32/43, 74.4%; P<0.05). Sows in WS had on average 1.5 more piglets than sows in SA (P<0.05). Sows with a WOI of 3-6 days had lower rates of pregnancy losses (P<0.05) and higher farrowing percentages (P<0.01) than those with a WOI>6 days, irrespective of season.
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Infertilidade/veterinária , Folículo Ovariano/crescimento & desenvolvimento , Doenças dos Suínos/etiologia , Animais , Feminino , Infertilidade/etiologia , Estações do Ano , Suínos , Ultrassonografia/veterinária , Gravação de VideoteipeRESUMO
RESUMO O presente estudo teve por objetivo descrever a experiência de implantação do Projeto de Extensão Gestão e Gentileza nos plantões noturnos de um hospital universitário, de janeiro a dezembro de 2017, explicitando a articulação entre o conhecimento teórico adquirido em diversas disciplinas do Curso de Gestão de Serviços de Saúde e a prática extensionista. O projeto, direcionado aos trabalhadores noturnos, buscou ressaltar a importância desses funcionários no ambiente hospitalar por meio de intervenções de gestão e gentileza em sete unidades do Hospital. A articulação entre teoria e prática perpassou pelas diversas etapas do projeto, contribuindo para a formação de profissionais capazes de intervir no cotidiano das organizações de saúde de maneira inovadora e efetiva. A vivência no projeto certificou a urgência de pensar intervenções permeadas por ações de gentileza em que todos os profissionais tenham condições de participar e se beneficiar com os resultados.
ABSTRACT The present study aims to describe the experience of implementing the Extension Project Management and Kindness in the night shifts of a university hospital, from January to December 2017, showing the articulation between the theoretical knowledge acquired in several subjects of the Health Services Management Course and the extension practice. The project, aimed at night workers, sought to highlight their importance in the hospital environment by means of management and kindness in seven hospital units. The articulation between theory and practice permeated the various stages of the project, contributing to the formation of professionals capable of intervening in the daily life of health organizations in an innovative and effective way. The experience in the project certified the urgency to think of interventions permeated by actions of kindness in which all professionals are able to participate and benefit from the results.
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RESUMO Objetivo: A síndrome de Leigh é uma doença neurodegenerativa com incidência de 1:40.000 nados-vivos. Apresenta ampla heterogeneidade clínica, bioquímica e genética, mas com alterações neuropatorradiológicas homogêneas. Não existe tratamento específico, e o prognóstico é reservado. O objetivo deste estudo foi familiarizar os profissionais de saúde com a doença. Descrição do caso: Menina de 16 meses, com hipotonia axial e atraso do desenvolvimento psicomotor. Dos exames realizados: cariótipo, potenciais auditivos evocados e avaliação oftalmológica normais; presença de hiperlactacidemia e hipocitrulinemia. Após a realização de ressonância magnética cerebral sob anestesia, observou-se agravamento da hipotonia com necessidade de internação por episódios de cianose/apneia. O eletroencefalograma não mostrou atividade epileptiforme. A neuroimagem revelou hipersinal lenticular bilateral com lesão do putâmen e do globo pálido esquerdo. Encontrou-se a mutação 8993T>G (MT-ATP6) no DNA mitocondrial. Comentários: De 10 a 30% dos doentes com síndrome de Leigh apresentam mutações do DNA mitocondrial. A descompensação com agravamento neurológico após intervenção anestésica está descrita e, nesse caso, apoiou o diagnóstico. Importante alertar para casos semelhantes, com diminuição de exames invasivos para diagnóstico.
ABSTRACT Objective: Leigh syndrome is a neurodegenerative disorder with an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no specific treatment, and the prognosis is reserved. This case report aimed familiarize health professionals with the disease. Case Description: A 16-month-hold girl who was followed in outpatient clinic due to axial hypotonia and delayed psychomotor development. Karyotype, auditory evoked potentials and ophthalmologic evaluation were normal. Evidence of hyperlactacidemia and hypocitrullinemia was detected in the patient. After performing brain magnetic resonance under anesthesia, hypotonia got worse, and the patient was hospitalized after an episode of cyanosis and apnea. The electroencephalogram showed no epileptiform activity. Neuroimaging revealed bilateral lenticular hyperintensity, especially in the putamen and in the left globus pallidus regions. Molecular analysis revealed an 8993T>G (MT-ATP6) mutation in the mitochondrial DNA. Comments: Between 10 and 30% of individuals with Leigh syndrome have mitochondrial DNA mutations. The decompensation after anesthetic intercurrences is typically associated with neurological deterioration and, in this case, increased the diagnosis suspicion. It is important to alert for similar cases and to reduce invasive diagnostic tests if the diagnosis is suspected.
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Humanos , Feminino , Lactente , DNA Mitocondrial/genética , Doença de Leigh/genética , MutaçãoRESUMO
This experimental study was aimed to compare the effectiveness of classroom dialogue-and a lesson in teaching the simulated recognition of signs and symptoms of stroke and clinical decisions, evaluating student satisfaction regarding the use of teaching strategies supported by new technologies. This research will provide understanding of how technology can support education Stroke, which is the third leading cause of death in the world.
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Abstract Objectives: This study aimed to evaluate the first episode of unprovoked epileptic seizure in children and assess recurrence risk factors. Methods: This was a retrospective observational study, based on the analysis of medical records of patients admitted between 2003 and 2014, with first epileptic seizure, at the pediatric service of a secondary hospital. The data were analyzed using the SPSS 20.0 program. Results: Of the 103 patients, 52.4% were boys. The median age at the first seizure was 59 (1-211) months. About 93% of children were submitted to an electroencephalogram at the first episode and 47% underwent neuroimaging assessment. Treatment with an antiepileptic drug was started in 46% of patients. The recurrence rate was 38% and of these, 80% had the second seizure within six months after the first event. Of the assessed risk factors, there was a statistically significant association between seizure during sleep and recurrence (p = 0.004), and between remote symptomatic etiology seizure and occurrence of new seizure (p = 0.02). The presence of electroencephalogram abnormalities was also associated with the occurrence of new seizures (p = 0.021). No association was found between age, duration of the seizure, and family history of epilepsy with increased risk of recurrence. Conclusions: Most children with a first unprovoked epileptic seizure had no recurrences. The risk of recurrence was higher in patients with seizure occurring during sleep or remote symptomatic ones and those with abnormal electroencephalogram results.
Resumo Objetivos: Este trabalho teve como objetivos estudar o primeiro episódio de crise epilética não provocada em idade pediátrica e avaliar os fatores de risco de recorrência. Métodos: Estudo observacional retrospectivo, baseado na análise dos processos clínicos dos pacientes internados entre 2003 e 2014, num serviço de pediatria de um hospital de nível 2, com primeira crise epilética. Os dados foram trabalhados com o programa SPSS Statistics 20.0. Resultados: Dos 103 pacientes, 52,4% eram meninos. A mediana da idade da primeira crise foi de 59 (um-211) meses. Fizeram eletroencefalograma no primeiro episódio 93% das crianças e 47% neuroimagem. O tratamento com fármaco antiepilético foi instituído em 46% dos pacientes. A taxa de recorrência foi 38% e, desses, 80% tiveram a segunda crise nos seis meses seguintes após o primeiro evento. Dos fatores de risco estudados verificou-se uma relação estatisticamente significativa entre a crise durante o sono e a recorrência (p = 0,004), assim como entre as crises de etiologia sintomática remota e a ocorrência de novas crises (p = 0,02). A presença de anormalidades no eletroencefalograma também esteve associada à ocorrência de novas crises (p = 0,021). Não se encontrou relação entre idade, duração da crise e história familiar de epilepsia com risco aumentado de recorrência. Conclusões: A maioria das crianças com uma primeira crise epilética não provocada não teve recorrências. O risco de recorrência foi superior nos pacientes com crise durante o sono ou crise sintomática remota e naqueles com eletroencefalograma alterado.