Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.

INTRODUCTION: Neuronal ceroid lipofuscinoses (CLNs) are a group of lysosomal storage disorders of genetic origin, characterized by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment. Thirteen genes related to CLNs are currently described, showing genetic and allelic heterogeneity, most of them with an autosomal recessive pattern. Due to the few descriptions of cases related to CLNs in Brazil, it is necessary to describe the phenotypic and genotypic characteristics of these patients. This study aims to evaluate the genotypic profile and correlate it with the phenotypic characteristics of patients with CLN in a children's hospital. METHODS: This study was performed as a descriptive cross-sectional study with analysis of medical records, imaging, and laboratory tests of patients who had a confirmed molecular diagnosis of CLN. RESULTS: The sample consisted of 11 patients from nine families with different subtypes of CLNs (CLN2, 5, 6, 7, and 8), with CLN2 being the most prevalent in the study. A total of 16 mutation variants were identified in genes associated with the five CLNs described in this study, with typical and atypical clinical phenotypes depending on the subtype and its variants. CONCLUSION: Novel mutations identified in the patients in this study showed phenotypes of rapid and severe progression in the CLN2 patient and similar characteristics in CLN6 and CLN7 patients, as previously described in the literature.

Produção de subjetividade e figuras subjetivas no capitalismo contemporâneo / Producción de subjetividad y figuras subjetivas en el capitalismo contemporáneo / Production of subjectivity and subjective figures in contemporary capitalism

Resumo: O presente artigo tem como objetivo analisar as relações entre a produção de subjetividade e a crise neoliberal, tomando como referência as contribuições de Gilles Deleuze e Félix Guattari, Maurizio Lazzarato, Antônio Negri e Michael Hardt sobre o tema. Para tanto, apresentamos alguns dos principais conceitos relativos ao modo como Deleuze e Guattari compreenderam a subjetividade e sua produção em relação ao paradigma capitalista vigente. Em seguida, analisamos as figuras subjetivas produzidas pela crise neoliberal, apresentadas por Negri e Hardt e as possibilidades de resistência ou desvio frente às formas dominantes de subjetividades produzidas pelo capitalismo.

Resumen: Este artículo tiene como objetivo analizar las relaciones entre la producción de subjetividad y la crisis neoliberal, tomando como referencia los aportes de Gilles Deleuze y Félix Guattari, Maurizio Lazzarato, Antônio Negri y Michael Hardt sobre el tema. Para ello, presentamos algunos de los principales conceptos relativos con la forma en que Deleuze e Guattari entendieron la subjetividad y su producción en relación con el paradigma capitalista actual. A continuación, analizamos las figuras subjetivas producidas por la crisis neoliberal, presentadas por Negri y Hardt y las posibilidades de resistencia o desviación frente a las formas dominantes de subjetividades producidas por el capitalismo.

Abstract: This article aims to analyze the relationship between the production of subjectivity and neoliberal crisis, taking as a reference the contributions of Gilles Deleuze and Félix Guattari, Maurizio Lazzarato, Antônio Negri and Michael Hardt on the topic. To this end, we present some of the main concepts related to the way Deleuze and Guattari understood subjectivity and its production in relation to the current capitalist paradigm. Next, we analyze the subjective figures produced by neoliberal crisis, presented by Negri and Hardt and the possibilities of resistance or deviation in the face of the dominant forms of subjectivities produced by capitalism.

Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy.

OBJECTIVE: Identify the predictive variables of genetic pathogenic results and the impact of test results on epilepsy diagnosis and management. METHODS: Analytical observational design evaluated 130 patients with epilepsy that had performed genetic testing over January 2017 to July 2022. RESULTS: There was a gradual increase in the number of exams performed over the years. The frequency of pathogenic results was 34% (n = 44/130), 8 altered genes with 54% (n = 24/44) of the results. The tests were more positive in patients with developmental delay and/or regression (p = .01). None of the other factors analyzed were associated with higher diagnostic yield. The age at onset of epilepsy brought diagnostic yield to the test (p = .041). Patients with negative genetic test had a reduction in the number of electroencephalograms performed before and after the test (respectively, 3.80 ± 6.37 and .84 ± 1.67; p < .001). SIGNIFICANCE: Facing a large proportion of patients with unexplained epilepsy have a genetic cause a genetic test has the potential to reduce the use of unnecessary diagnostic tests, improve patient outcomes by identifying targeted treatments, and provide families with genetic counseling and risk assessment. But an early genetic testing can be crucial to reach these goals. Even in cases where the genetic test is negative, the study suggests that it still has important implications for patient care and management.

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). The former is increasingly recognized, and disease-modifying therapy was introduced; however, literature is scarce on the latter. This review analyzes BANDDOS and discusses similarities and differences with CSF1R-ALSP.We systematically retrieved and analyzed the clinical, genetic, radiological, and pathological data on the previously reported and our cases with BANDDOS. We identified 19 patients with BANDDOS (literature search according to the PRISMA 2020 guidelines: n = 16, our material: n = 3). We found 11 CSF1R mutations, including splicing (n = 3), missense (n = 3), nonsense (n = 2), and intronic (n = 2) variants and one inframe deletion. All mutations disrupted the tyrosine kinase domain or resulted in nonsense-mediated mRNA decay. The material is heterogenous, and the presented information refers to the number of patients with sufficient data on specific symptoms, results, or performed procedures. The first symptoms occurred in the perinatal period (n = 5), infancy (n = 2), childhood (n = 5), and adulthood (n = 1). Dysmorphic features were present in 7/17 cases. Neurological symptoms included speech disturbances (n = 13/15), cognitive decline (n = 12/14), spasticity/rigidity (n = 12/15), hyperactive tendon reflex (n = 11/14), pathological reflexes (n = 8/11), seizures (n = 9/16), dysphagia (n = 9/12), developmental delay (n = 7/14), infantile hypotonia (n = 3/11), and optic nerve atrophy (n = 2/7). Skeletal deformities were observed in 13/17 cases and fell within the dysosteosclerosis - Pyle disease spectrum. Brain abnormalities included white matter changes (n = 19/19), calcifications (n = 15/18), agenesis of corpus callosum (n = 12/16), ventriculomegaly (n = 13/19), Dandy-Walker complex (n = 7/19), and cortical abnormalities (n = 4/10). Three patients died in infancy, two in childhood, and one case at unspecified age. A single brain autopsy evidenced multiple brain anomalies, absence of corpus callosum, absence of microglia, severe white matter atrophy with axonal spheroids, gliosis, and numerous dystrophic calcifications.In conclusion, BANDDOS presents in the perinatal period or infancy and has a devastating course with congenital brain abnormalities, developmental delay, neurological deficits, osteopetrosis, and dysmorphic features. There is a significant overlap in the clinical, radiological, and neuropathological aspects between BANDDOS and CSF1R-ALSP. As both disorders are on the same continuum, there is a window of opportunity to apply available therapy in CSF1R-ALSP to BANDDOS.

Gravidade e tempo de hospitalização de pacientes não críticos com lesão renal aguda / Gravedad y tiempo de hospitalización de pacientes no críticos con lesión renal aguda / Severity and lenght of hospitalization of non-critical patients with acute kidney injury

Objetivo: avaliar gravidade e tempo de hospitalização de pacientes não críticos com lesão renal aguda. Métodos: estudo observacional prospectivo com 137 pacientes realizado por meio de questionário estruturado para coleta de dados. Os testes qui-quadrado, exato de Fisher e Mann-Whitney foram empregados para análise estatística e considerou-se significativo resultado com p≤0,05. Aprovado pelo Comitê de Ética em Pesquisa. Resultados: oxigenoterapia por macronebulização resultou em maior mortalidade durante internação (p=0,001) e após alta hospitalar (p=0,02), assim como níveis elevados de sódio (p=0,0001 vs.p=0,005) e a ocorrência de lesão ou falência renal (p=0,02 vs.p=0,02). Necessidade de suporte ventilatório aumentou em 3,02 vezes o tempo de hospitalização(p=0,02). Conclusão: A lesão renal aguda foi frequente em mais da metade dos pacientes, sendo KDIGO 2 e 3 níveis de gravidade que se associaram com mortalidade intra-hospitalar e pós-alta. Paciente de maior gravidade (KDIGO 3) permaneceu maior tempo hospitalizado. A macronebulização em pacientes com traqueostomia triplicou o tempo de internação.

Objective: To assess severity and length of hospitalization of non-critical patients with acute kidney injury (AKI). Methods: Prospective observational study conducted with 137 patients, with data collected by a structured questionnaire. Statistical analysis was performed using chi-square, Fisher's exact and Mann-Whitney tests, with significance set as p≤0.05. The research was approved by the Research Ethics Committee. Results: Oxygen therapy by macro-nebulization resulted in higher mortality during hospitalization (p=0.001) and after discharge (p=0.02), as well as high levels of sodium (p=0.0001 vs. p=0.005) and the occurrence of kidney injury or failure (p=0.02 vs. p=0.02). Need for ventilatory support increased by 3.02 times the length of hospitalization (p=0.02). Conclusion: Acute kidney injury was frequent in more than half of the patients, with KDIGO 2 and 3 levels of severity that were associated with inpatient and post-discharge mortality. Most severe patients (KDIGO 3) remained hospitalized for a longer time. Macro-nebulization in patients with tracheostomy tripled the length of hospitalization

Objetivo: evaluar la gravedad y el tiempo de hospitalización de pacientes no críticos con lesión renal aguda. Métodos: estudio observacional prospectivo con 137 pacientes que utilizó un cuestionario estructurado para recopilar los datos. Para el análisis estadístico se utilizaron las pruebas Chi-cuadrado, Exacta de Fisher y Mann-Whitney, y se consideró significativo un resultado con p≤0,05. Aprobado por el Comité de Ética en Investigación. Resultados: con la oxigenoterapia con macronebulización se presentó mayor mortalidad durante la hospitalización (p=0,001) y después del alta hospitalaria (p=0,02), así como niveles elevados de sodio (p=0,0001 vs. p=0,005) y la ocurrencia de daño renal o insuficiencia renal (p=0,02 vs. p=0,02). La necesidad de soporte ventilatorio aumentó 3,02 veces el tiempo de estancia hospitalaria (p=0,02). Conclusión: La lesión renal aguda fue frecuente en más de la mitad de los pacientes, con niveles de severidad KDIGO 2 y 3 que se asociaron con mortalidad intrahospitalaria y postegreso. El paciente más grave (KDIGO 3) permaneció hospitalizado por más tiempo. La macronebulización en pacientes con traqueostomía triplicó el tiempo de estancia.

Gastroprotective effect of Artemisia absinthium L.: A medicinal plant used in the treatment of digestive disorders.

ETHNOPHARMACOLOGICAL RELEVANCE: Wormwood (Artemisia absinthium L.) is traditionally used for stomach pain and gastric relief. However, its possible gastroprotective effect has not yet been experimentally evaluated. AIM OF THE STUDY: This study evaluated the gastroprotective effect of aqueous extracts obtained through hot and room temperature maceration of A. absinthium aerial parts in rats. MATERIALS AND METHODS: The gastroprotective effect of hot aqueous extract (HAE) and room temperature aqueous extract (RTAE) from A. absinthium aerial parts were evaluated in rats using a model of acute gastric ulcer induced by ethanol p.a. The stomachs were collected to measure the gastric lesion area and histological and biochemical analysis. UHPLC-HRMS/MS analysis was used to determine the chemical profile of the extracts. RESULTS: Eight main peaks in the UHPLC chromatogram were identified in both HAE and RTAE extracts: tuberonic acid glycoside (1), rupicolin (2), 2-hydroxyeupatolide (3), yangabin (4), sesartemin (5), artemetin (6), isoalantodiene (7), and dehydroartemorin (8). For RTAE, a higher diversity of sesquiterpene lactones was observed. The groups treated with RTAE at 3%, 10%, and 30% presented a gastroprotective effect, reducing the lesion area by 64.68%, 53.71%, and 90.04%, respectively, when compared with the vehicle (VEH)-treated group. On the other hand, the groups treated with HAE at 3%, 10%, and 30% presented values of lesion areas higher than those of the VEH group. Changes in the submucosa layer, inflammatory process with edema, cellular infiltration, and mucin depletion were detected in the gastric mucosa exposed to ethanol, which was fully prevented by RTAE treatment. Neither HAE nor RTAE could increase the reduced glutathione levels in the injured gastric tissue, but RTAE (30%) reduced the formation of lipid hydroperoxides. When the rats were pre-treated with NEM (a chelator of non-protein thiols) or L-NAME (non-selective nitric oxide synthase inhibitor), the RTAE lost the ability to protect the gastric mucosa. CONCLUSIONS: This study corroborates the ethnopharmacological use of this specie to treat gastric disorders revealing the gastroprotective effect of the room-temperature aqueous extract of A. absinthium aerial parts. Its mode of action may involve the ability of the infusion to maintain the gastric mucosal barrier integrity.

Algemas manageriales: Análise da avaliação do acesso e melhoria da qualidade em saúde no Brasil

Resumo: Este trabalho indaga o caráter avaliativo do Programa Nacional de Melhoria do Acesso e Qualidade da Atenção Básica na Atenção Primaria à Saúde no Brasil, a partir do caráter performativo deste instrumento no cenário mundial de crescente managerialização das políticas sanitárias. Objetivo: Compreender como a qualidade do acesso se define em termos práticos e quais ações são promovidas aos trabalhadores da Atenção Primaria à Saúde através da Portaria 1.645 e o Instrumento de Avaliação aplicado aos profissionais do Núcleo Ampliado de Saúde da Família e Atenção Básica. Métodos: Foi realizada uma Análise Pragmática do Discurso, com auxílio dos Softwares Atlas.ti 8 e Microsoft Excel 2010. Resultados: Os resultados revelam estândares e indicadores promovidos pelo Programa Nacional de Melhoria do Acesso e Qualidade da Atenção Básica, assim como o papel ambivalente de gestores e profissionais da saúde, entre seu caráter voluntário e proativo e, revelam o desmonte do modelo de Atenção Primária à Saúde sob lógica comunitária no Brasil, em comparação à abordagem do Novo Management Público e a atuação em função de indicadores. Conclusões: O papel do Estado na garantia de direito a saúde é minimizado e dá lugar ao Novo Management Público na saúde.

Resumen: Este trabajo cuestiona el carácter evaluativo del Programa Nacional para la Mejora del Acceso y la Calidad de la Atención Primaria en la Atención Primaria de Salud en Brasil, a partir del carácter performativo de este instrumento en el escenario mundial de creciente managerialización de las políticas sanitarias. Objetivo: Comprender cómo se define la calidad del acceso en términos prácticos y qué acciones se promueven a los trabajadores de Atención Primaria de Salud a través de la Ordenanza 1.645 y el Instrumento de Evaluación aplicado a los profesionales de Núcleo Ampliado de Saúde da Família e Atenção Básica. Métodos: Se realizó un Análisis Pragmático del Discurso, con la ayuda de Softwares Atlas.ti 8 y Microsoft Excel 2010. Resultados: Los resultados revelan estándares e indicadores promovidos por el Programa Nacional para la Mejora del Acceso y la Calidad de la Atención Primaria, así como el papel ambivalente de los gerentes y profesionales de la salud, entre su carácter voluntario y proactivo y revelan el desmantelamiento del modelo de Atención Primaria de Salud bajo lógica comunitaria en Brasil, en comparación con el enfoque del Nuevo Management Público y el desempeño en función de los indicadores. Conclusiones: Se minimiza el papel del Estado en la garantía del derecho a la salud y se da paso al Nuevo Management Público en la salud.

Abstract: This paper questions the evaluative process of the National Program for Improving Access and Quality of Primary Care in Primary Health Care in Brazil, based on the performative character of this instrument in the world scenario of increasing management of health policies. Objective: To understand how the quality of access is defined in practical terms and what actions are promoted to Primary Health Care workers through Ordinance 1,645 and the Evaluation Instrument applied to Extended Centers for Family Health and Primary Care professionals. Methods: A Pragmatic Discourse Analysis was performed, with the help of Atlas.ti 8 and Microsoft Excel 2010 Software. Results: The results reveal standards and indicators promoted by the National Program for Improving Access and Quality of Primary Care, as well as the ambivalent role of managers and health professionals, between their voluntary and proactive character and reveal the dismantling of the Primary Health Care model under community logic in Brazil, compared to the New Public Management approach and the performance in function of indicators. Conclusions: The role of the State in guaranteeing the right to health is minimized and gives way to New Public Management in healthcare.

Chemical contamination in coastal areas alters shape, resistance and composition of carnivorous gastropod shells.

Morphological, structural and compositional alterations in shells of molluscs have been proposed as putative biomarkers of chemical contamination in coastal zones. Despite this, few studies were carried out using top predator gastropods which tend to be more susceptible to contamination exposure. Thus, the present study assessed disturbances on shells of Stramonita brasiliensis considering compression resistance and organic and mineralogical matrix composition, related to morphometric alterations. Results showed reductions in compression resistance and organic matrix content associated with higher contaminated sites. In addition, a predominance of calcite polymorphs was seen in shells obtained in polluted areas. Such outputs were consistent with local contamination levels which may have induced the observed alterations. Thus, changes in mollusc shells showed good performance as potential biomarkers of coastal contamination, being probably observed in other species of carnivorous gastropods around the world.

BRPF1-associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.

In 2017, Mattiolli et al. and Yan et al. described a series of patients with clinical findings essentially characterized by intellectual disabilities, ptosis, hypotonia, epilepsy, and weakness. They also found in these patients distinct heterozygous mutations in the BRPF1 gene, which plays a role in epigenetic regulation by promoting histone acetylation. The disease is known as Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP, OMIM #617333). Later, another 20 patients were also described by distinct reports, suggesting IDDDFP could be a more frequent cause of intellectual disability as it was thought before. Here, we describe a patient with normal intellectual development who had congenital ptosis, hypotonia, muscular weakness, atlanto-axial malformation, and pyramidal at the neurological examination. The patient has a rare nonsense variant on exon 3 of BRPF1 gene. We also describe a phenotypic amplification for conditions related to deficiency in histone modifications.

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.

INTRODUCTION: Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. AIM: To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. MATERIALS AND METHODS: The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. RESULTS: The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P = 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P = 0.008). CONCLUSION: A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward.

The incidence of pediatric adrenocortical tumors (ACT) is high in southern Brazil due to the founder TP53 R337H variant. Neonatal screening/surveillance (NSS) for this variant resulted in early ACT detection and improved outcomes. The medical records of children with ACT who did not participate in newborn screening (non-NSS) were reviewed (2012-2018). We compared known prognostic factors between the NSS and non-NSS cohorts and estimated surveillance and treatment costs. Of the 16 non-NSS children with ACT carrying the R337H variant, the disease stages I, II, III, and IV were observed in five, five, one, and five children, respectively. The tumor weight ranged from 22 to 608 g. The 11 NSS children with ACT all had disease stage I and were alive. The median tumor weight, age of diagnosis, and interval between symptoms and diagnosis were 21 g, 1.9 years, and two weeks, respectively, for the NSS cohort and 210 g, 5.2 years, and 15 weeks, respectively, for the non-NSS cohort. The estimated surveillance/screening cost per year of life saved is US$623/patient. NSS is critical for improving the outcome of pediatric ACT in this region. Hence, we strongly advocate for the inclusion of R337H in the state-mandated universal screening and surveillance.

Unconventional Disorder by Femtosecond Laser Irradiation in Fe2O3.

This paper demonstrates that femtosecond laser-irradiated Fe2O3 materials containing a mixture of α-Fe2O3 and ε-Fe2O3 phases showed significant improvement in their photoelectrochemical performance and magnetic and optical properties. The absence of Raman-active vibrational modes in the irradiated samples and the changes in charge carrier emission observed in the photocurrent density results indicate an increase in the density of defects and distortions in the crystalline lattice when compared to the nonirradiated ones. The magnetization measurements at room temperature for the nonirradiated samples revealed a weak ferromagnetic behavior, whereas the irradiated samples exhibited a strong one. The optical properties showed a reduction in the band gap energy and a higher conductivity for the irradiated materials, causing a higher current density. Due to the high performance observed, it can be applied in dye-sensitized solar cells and water splitting processes. Quantum mechanical calculations based on density functional theory are in accordance with the experimental results, contributing to the elucidation of the changes caused by femtosecond laser irradiation at the molecular level, evaluating structural, energetic, and vibrational frequency parameters. The surface simulations enable the construction of a diagram that elucidates the changes in nanoparticle morphologies.

Structure, Photoluminescence Emissions, and Photocatalytic Activity of Ag2SeO3: A Joint Experimental and Theoretical Investigation.

In this paper, we report the synthesis of silver selenite (Ag2SeO3) by different methods [sonochemistry, ultrasonic probe, coprecipitation, and microwave-assisted hydrothermal methods]. These microcrystals presented a structural long-range order as confirmed by X-ray diffraction (XRD) and Rietveld refinements and a structural short-range order as confirmed by Fourier transform infrared (FTIR) and Raman spectroscopies. X-ray photoelectron spectroscopy (XPS) provided information about the surface of the samples indicating that they were pure. The microcrystals presented different morphologies and sizes due to the synthesis method as observed by field emission scanning electron microscopy (FE-SEM). The optical properties of these microcrystals were evaluated by ultraviolet-visible (UV-vis) spectroscopy and photoluminescence (PL) measurements. Thermal analysis confirmed the temperature stability of the as-synthetized samples. Further trapping experiments prove that the holes and hydroxyl radicals, to a minor extent, are responsible for the photocatalytic reactions. The experimental results are sustained by first-principles calculations, at the density functional theory (DFT) level, to decipher the structural parameters, electronic properties of the bulk, and surfaces of Ag2SeO3. By matching the experimental FE-SEM images and theoretical morphologies, we are capable of finding a correlation between the morphology and photocatalytic activity, along with photodegradation of the Rhodamine B dye under UV light, based on the different numbers of unsaturated superficial Ag and Se cations (local coordination, i.e., clusters) of each surface.

Effects of two intensities of treadmill exercise on neuromuscular recovery after median nerve crush injury in Wistar rats.

Considering the potential action of exercise on neuroplasticity and the need to adapt protocols to enhance functional recovery after nerve injury, this study evaluated the effects of two intensities of treadmill exercise on nervous and muscular tissues and functional recovery after nerve crush injury. Wistar rats were distributed into sedentary group (SED), and 10 m/min (EG10) and 17 m/min (EG17) exercise groups. The exercise started one week after the injury. Ten daily sessions were performed with a 2-day interval after the fifth day. The flexor digitorum muscle and two segments of the median nerve were analysed histomorphometrically by light microscopy and computer analysis. Function was evaluated by grasping test, in 3 moments. Approval number: 016/2013. In the proximal segments of the median nerve, the diameter of myelinated fibres and axon, the myelin sheath thickness and the ratio of axon diameter to fibre diameter (g ratio) were significantly larger (P<0.05) in the EG10. The number of myelinated fibres was lesser in the EG17 than the other groups (P<0.05). No difference in the number of myelinated fibres among groups was observed in the distal segments, but the SED presented significantly larger axon and fibre diameters than those that performed exercise. The EG10 presented greater area and diameter of muscle fibres (P<0.05) and functional improvement observed on the 21st day after injury (P<0.05) compared with the EG17 and SED. Continuous exercise at 10 m/min accentuates nerve regeneration, accelerating functional recovery and preventing muscle atrophy.

Tuberculose latente entre pessoas com HIV/AIDS / Latent tuberculosis among people with HIV/AIDS

Objetivo: buscar evidências sobre o uso da terapia preventiva com isoniazida na redução do risco da tuberculose ativa entre as pessoas vivendo com HIV/Aids mediante os resultados dos ensaios de liberação do interferon-gama (IGRA). Método: trata-se de estudo bibliográfico, descritivo, tipo revisão integrativa, com busca de artigos nas bases de dados publicados de 2010 a 2017. Os descritores utilizados foram HIV, AIDS, terapia preventiva com isoniazida, tratamento da infecção latente da tuberculose, interferon-gama, ensaios de liberação do interferon-gama. Resultados: selecionaram-se três artigos, com 1815 PVHA e desenvolvimento de tuberculose em apenas um caso, após 24 meses de terapia preventiva com isoniazida. Altas taxas de reversão e conversão durante o seguimento. Conclusão: consideraram-se os estudos abordando os benefícios da terapia preventiva com isoniazida a partir do resultado do IGRA apresentam-se escassos, com incipiente sugestão da limitação do teste seriado para o seguimento da resposta da terapia entre as PVHA. Além disso, destaca-se a necessidade de se investir em mais estudos que explorem a temática e superem as limitações já encontradas tendo em vista a alta relevância de se investir em novas estratégias que impactem o controle da coinfecção TB/HIV.(AU)

Alterações glicêmicas e pressóricas em pacientes críticos / Glycemic and pressure changes in critically ill patients

Objetivo: descrever as repercussões das variações glicêmicas e pressóricas de pacientes hipertensos e diabéticos. Método: estudo quantitativo, descritivo e exploratório, com 14 pacientes internados na unidade de terapia intensiva (UTI). Utilizou-se questionário estruturado para coleta de dados. Considerou-se significativo resultado com p < 0,05. Resultados: 78,5% dos pacientes se caracterizavam como hipertensos e 43% diabéticos. O período de internação compreendeu 66±84 dias e o período de ventilação mecânica foi de 70±95 dias. O Acute Physiology and Chronic Health Disease Classification System II (APACHE II) de 26±4 sinalizou a gravidade dos pacientes. Glicemia capilar, tempo de internação e de ventilação mecânica se associaram significativamente ao pior desfecho/óbito (p ≤ 0,05). Conclusão: uma das repercussões das alterações glicêmicas e pressóricas se associou ao risco de lesão renal. Além disso, a inexistência de um controle seguro e eficaz da glicemia conduziu os pacientes ao pior desfecho/óbito. Destaca-se a participação do enfermeiro não apenas para controlar as oscilações glicêmicas, mas também proporcionar um cuidado seguro e auxiliar a tomada de decisão, a fim de aumentar a sobrevida do paciente e garantir uma assistência eficaz e de qualidade.(AU)

Risco cardiovascular em usuários hipertensos da atenção primária à saúde / Cardiovascular risk in hypertensive primary health care users

Objetivo: identificar os fatores associados ao risco de doenças cardiovasculares em usuários da atenção primária à saúde (APS) hipertensos. Método: estudo quantitativo e transversal realizado com 115 usuários hipertensos cadastrados em uma unidade básica de saúde (UBS). Os dados foram registrados em questionário semiestruturado. Realizou-se análise descritiva e inferencial (teste t de Student e regressão logística multivariada). Valores p < 0,05 foram considerados significativos. Resultados: houve predomínio do sexo feminino (67,8%), idosos (> 60 anos) (66,1%), em uso contínuo de diuréticos (65,2%). Ao estratificar os usuários da APS de acordo com o risco para doenças cardiovasculares, observou-se que a maioria apresentou risco elevado (59,1%), risco médio (26,1%) e baixo risco (14,8%). Estão associados ao maior risco de eventos cardiovasculares os hipertensos com diabetes mellitus (DM) (p = 0,000), infarto agudo do miocárdio (IAM) (p = 0,000), insuficiência cardíaca congestiva (ICC) (p = 0,000) e aqueles em uso de diuréticos (p = 0,001). Conclusão: usuários da APS hipertensos com DM, IAM, ICC e em uso de diuréticos evoluíram com maior risco de evento cardiovascular. Nesse contexto, faz-se necessário proporcionar uma assistência integrada e pautada na prevenção não apenas para minimizar a ocorrência de complicações, mas principalmente para prolongar qualitativamente a vida dos usuários da APS hipertensos.(AU)

Genomic imbalances in syndromic congenital heart disease / Desequilíbrios genômicos na cardiopatia congênita sindrômica

Abstract Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Results: Clinically significant copy number variations (CNVs ≥300 kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993 kb duplication in 15q21.1 and 706 kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. Conclusion: These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD.

Resumo Objetivo: Identificar desequilíbrios genômicos patogênicos em pacientes que apresentam cardiopatias congênitas (CC) e anomalias extracardíacas e exclusão da síndrome de deleção 22q11.2 (SD22q11.2). Métodos: Foram avaliados por microarray cromossômico (CMA) 78 pacientes negativos para a deleção 22q11.2, previamente testados por hibridação in situ com fluorescência (FISH) e/ou amplificação de múltiplas sondas dependentes de ligação (MLPA). Resultados: Foram identificadas variações do número de cópias de DNA (CNVs) clinicamente significativas (≥ 300 kb) em 10% (8/78) dos casos, além de CNVs potencialmente relevantes em dois casos (duplicação de 993 kb em 15q21.1 e duplicação de 706 kb em 2p22.3). Genes envolvidos como IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1 e LTPB1 são conhecidos por atuar no desenvolvimento cardíaco e podem ser genes candidatos a CC. Conclusão: Esses dados mostram que pacientes que apresentam CC, com anomalias extracardíacas e exclusão da SD22q11.2, devem ser investigados por CMA. Ainda, este estudo enfatiza a possível função das CNVs nas CC.

Genomic imbalances in syndromic congenital heart disease.

OBJECTIVE: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). METHODS: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). RESULTS: Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993kb duplication in 15q21.1 and 706kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. CONCLUSION: These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD.