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Introduction:Variations in blood pressure (BP) are, in part, genetically determined and some polymorphisms of renin-angiotensin- aldosterone system (RAAS) and synthase of endothelial nitric oxide (eNOS) have been related to hypertension (HT). Conversely, physical exercise is considered a non-pharmacological tool for HT control, treatment, and prevention.Objective: The purpose of this study is to investigate the relationship between eNOS and RAAS polymorphisms, their epistatic interaction, and the respective humoral factors in the BP control in normotensive/pre-hypertension and hypertensive older adults and how this relationship can be modulated by training status (TS) level.Methods:A total of 155 older adults (66.94 ± 6.83 years old) performed the following evaluations: AAHPERD battery test to determine the general functional fitness index (GFFI), systolic and diastolic blood pressure (SBP and DBP), blood collection for DNA extraction, analysis of eNOS gene polymorphisms rs2070744; rs61722009 and rs1799983 and RAAS polymorphisms rs699; rs1799752 and rs5186, and quantification of ACE activity (Fluorimetric Assay) and nitrite concentration (Chemiluminescence Method).Results and Conclusion:Good TS level appears to exert greater influence on SBP for G2 and G3 (G1: 125.79 ± 14.03/ G2: 119.91 ± 11.72/G3: 119.71 ± 10.85) and on NO2 for G3 (G1: 0.42 ± 0.25/ G2: 0.54 ± 0.45/ G3: 0.71 ± 0.52). No associations were observed between eNOS and RAAS polymorphisms, but the epistasis was identified between eNOS polymorphism, rs2070744, and RAAS polymorphism, rs699, revealing a statistically significant interaction (p = .0235) with training score of 0.63, a training test accuracy of 0.61 and a cross-validation consistency of 10/10. This result suggests an increased risk of hypertension.
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Hipertensão , Pré-Hipertensão , Idoso , Pressão Sanguínea/genética , Humanos , Hipertensão/genética , Pessoa de Meia-Idade , Óxido Nítrico Sintase Tipo III/genética , Projetos Piloto , Polimorfismo Genético , Sistema Renina-Angiotensina/genéticaRESUMO
OBJECTIVE: To identify the relationship between organizational climate of management teams and the performance of health services. MATERIALS AND METHODS: A transversal and analytical study was designed. The Organizational Climate Scale (OCS) was utilized and performance was assessed by the achievement indicators through correlation analysis and multiple regression. Thirty four medical benefits services headquarters (JSPM) were measured of the Mexican Social Security Institute. RESULTS: Of 862 participating, 238 (27.6%) evaluated the climate of their organizations with a high level; the maximal score was 56%. Average performance value was 0.79 ± 0.07 (minimal: 0.65; maximal: 0.92). A positive correlation was demonstrated between organizational climate level and performance (r=0.4; p=0.008). CONCLUSIONS: The organizational climate of the health services managers (JSPM) is directly related with performance in health care.
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Administradores de Instituições de Saúde , Indicadores Básicos de Saúde , Equipes de Administração Institucional , Cultura Organizacional , Previdência Social/organização & administração , Adulto , Estudos Transversais , Humanos , México , Meio Social , Desempenho Profissional , Local de TrabalhoRESUMO
BACKGROUND: Raltegravir (RAL) constitutes the first available integrase strand transfer inhibitor (INSTI) available in clinical practice. Three independent pathways have been described to confer resistance to RAL. Secondary mutations with little effect on INSTI susceptibility and additional substitutions with an uncertain role have also been described especially in HIV-1 non-B variants. METHODS: We evaluated the prevalence of primary, secondary, and additional resistance mutations to INSTIs in patients naïve to RAL or elvitegravir (EGV) carrying different HIV-1 variants. RESULTS: A total of 83 patients infected by B HIV-1 subtype (64%) or non-B HIV-1 variants (36%) were evaluated. No primary mutations to RAL or EGV were found in the inte-grase sequences analyzed. Secondary mutations were detected in only 5 patients. Additional mutations were found in both in B and non-B variants. According to the geno2pheno algorithm, some of the secondary mutations detected (L74V, E138K, G163RS, and V151I) have been associated with a reduced estimated susceptibility to RAL and only the E138K mutation has been associated with a decreased estimated susceptibility to EGV. No virological failure was observed after RAL was administrated in 17 patients carrying 1 or more additional substitutions in the absence of primary or secondary mutations. CONCLUSIONS: No primary resistance mutations to INSTI were found in treatment-naïve or -experienced patients infected with B or non-B HIV-1 variants. The vast majority had some polymorphic and non-polymorphic substitutions; however response to RAL was excellent in patients who harbored one or more of these mutations. We could not identify any clinical factors associated with the presence of any of these mutations.
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Farmacorresistência Viral/genética , Infecções por HIV/virologia , Inibidores de Integrase de HIV/farmacologia , Integrase de HIV/genética , HIV-1/classificação , Feminino , Genótipo , Infecções por HIV/tratamento farmacológico , Infecções por HIV/genética , Inibidores de Integrase de HIV/uso terapêutico , HIV-1/efeitos dos fármacos , HIV-1/genética , Humanos , Masculino , Mutação de Sentido Incorreto , Fenótipo , Prevalência , Pirrolidinonas/farmacologia , Pirrolidinonas/uso terapêutico , Quinolonas/farmacologia , Quinolonas/uso terapêutico , Raltegravir Potássico , Estudos Retrospectivos , Análise de Sequência de DNA , Espanha , Carga ViralRESUMO
BACKGROUND: Alzheimer's disease (AD) brain shows an ongoing inflammatory condition and non-steroidal anti-inflammatories diminish the risk of suffering the neurologic disease. Cannabinoids are neuroprotective and anti-inflammatory agents with therapeutic potential. METHODS: We have studied the effects of prolonged oral administration of transgenic amyloid precursor protein (APP) mice with two pharmacologically different cannabinoids (WIN 55,212-2 and JWH-133, 0.2 mg/kg/day in the drinking water during 4 months) on inflammatory and cognitive parameters, and on ¹8F-fluoro-deoxyglucose (¹8FDG) uptake by positron emission tomography (PET). RESULTS: Novel object recognition was significantly reduced in 11 month old Tg APP mice and 4 month administration of JWH was able to normalize this cognitive deficit, although WIN was ineffective. Wild type mice cognitive performance was unaltered by cannabinoid administration. Tg APP mice showed decreased ¹8FDG uptake in hippocampus and cortical regions, which was counteracted by oral JWH treatment. Hippocampal GFAP immunoreactivity and cortical protein expression was unaffected by genotype or treatment. In contrast, the density of Iba1 positive microglia was increased in Tg APP mice, and normalized following JWH chronic treatment. Both cannabinoids were effective at reducing the enhancement of COX-2 protein levels and TNF-α mRNA expression found in the AD model. Increased cortical ß-amyloid (Aß) levels were significantly reduced in the mouse model by both cannabinoids. Noteworthy both cannabinoids enhanced Aß transport across choroid plexus cells in vitro. CONCLUSIONS: In summary we have shown that chronically administered cannabinoid showed marked beneficial effects concomitant with inflammation reduction and increased Aß clearance.
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Peptídeos beta-Amiloides/metabolismo , Canabinoides/administração & dosagem , Transtornos Cognitivos/prevenção & controle , Encefalite/prevenção & controle , Administração Oral , Doença de Alzheimer/complicações , Doença de Alzheimer/genética , Precursor de Proteína beta-Amiloide/genética , Análise de Variância , Animais , Benzoxazinas/administração & dosagem , Plexo Corióideo/metabolismo , Plexo Corióideo/patologia , Transtornos Cognitivos/diagnóstico por imagem , Transtornos Cognitivos/etiologia , Corpo Estriado/efeitos dos fármacos , Corpo Estriado/metabolismo , Ciclo-Oxigenase 2/genética , Ciclo-Oxigenase 2/metabolismo , Modelos Animais de Doenças , Encefalite/diagnóstico por imagem , Encefalite/etiologia , Ensaio de Imunoadsorção Enzimática , Fluordesoxiglucose F18/metabolismo , Regulação da Expressão Gênica/efeitos dos fármacos , Regulação da Expressão Gênica/genética , Quinase 3 da Glicogênio Sintase/metabolismo , Glicogênio Sintase Quinase 3 beta , Humanos , Camundongos , Camundongos Transgênicos , Microglia/efeitos dos fármacos , Microglia/patologia , Morfolinas/administração & dosagem , Naftalenos/administração & dosagem , Tomografia por Emissão de Pósitrons , RNA Mensageiro/metabolismo , Receptor CB2 de Canabinoide/metabolismo , Fatores de TempoRESUMO
Acute epiglottitis in children is a rare entity since the introduction of the vaccine against Haemophilus influenzae; however, it should be considered as part of the differential diagnosis when facing a patient with evidence of upper airway obstruction. This study describes the case of a three-year-old child who arrived at the emergency department with fever, respiratory distress, and stridor. After ventilatory failure, the patient was intubated and antibiotics were initiated. The results of the bacteria culture confirmed Streptococcus pyogenes infection. This case report intends to describe and review the differential diagnoses of epiglottitis, as well as its management and prognosis.
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OBJECTIVE: Pregnancy is an event in a woman's life with enormous potential to affect her health and the newborn health. The objective of this review was to study the contributions made by the different investigations on nutrition and physical activity (PA) in relation to obstetric and perinatal outcomes, as well as health status in adulthood from 2011 to 2021. METHODS: An exploratory review of the literature was carried out. Two blind reviewers performed the search, screening and inclusion of the articles (37). RESULTS: Bibliographic reviews (35.13%) and descriptive studies (21.6%) were collected. The extracted information was grouped into three thematic areas: health education (HE) (16 articles), diet (12 articles), physical activity (9 articles) and 4 sub-themes: macronutrients; micronutrients; type of exercise and intensity and frequency of exercise. The most reported obstetric and perinatal outcomes were premature birth (37.5%), fetal growth disturbance (37.5%) and gestational diabetes mellitus (GDM) (25%). CONCLUSIONS: Results are in line with the published literature. Diet and PA play a relevant role in obstetric and perinatal outcomes, as well as in health status in adulthood. However, it's not clear which is the best educational intervention to improve adherence to a healthy lifestyle during and after pregnancy. This review may have incurred several biases including publication bias and selection bias. Future research on HE in pregnancy should adopt an approach focused on educational interventions that achieve greater adherence to a healthy lifestyle.
OBJETIVO: La gestación es un acontecimiento en la vida de la mujer con un enorme potencial para incidir en la salud de la misma y del neonato. El objetivo de esta revisión fue estudiar las aportaciones realizadas por las distintas investigaciones sobre alimentación y actividad física (AF) en relación a los resultados obstétricos y perinatales, así como en el estado de salud en la edad adulta desde el año 2011 hasta 2021. METODOS: Se realizó una revisión exploratoria de la literatura. Dos revisores ciegos realizaron la búsqueda, cribado e inclusión de los artículos (37). RESULTADOS: Se cotejaron revisiones bibliográficas (35,13%) y estudios descriptivos (21,6%). La información se agrupó en tres áreas temáticas: educación sanitaria (ES) (16), alimentación (12), actividad física (9) y cuatro subtemas: macronutrientes; micronutrientes; tipo de ejercicio; intensidad y frecuencia. Las complicaciones más reportadas fueron: parto prematuro (37,5%), alteración del crecimiento fetal (37,5%) y diabetes mellitus gestacional (DMG) (25%). CONCLUSIONES: Los resultados coinciden con la literatura publicada. La alimentación y la AF tienen un papel relevante en los resultados obstétricos y perinatales, así como en el estado de salud en la edad adulta. No obstante, no queda clara cuál es la mejor intervención educativa para mejorar la adherencia a un estilo de vida saludable durante el embarazo y posterior a este. Esta revisión puede haber incurrido en varios sesgos, entre los que están el de publicación y el de selección. La investigación futura sobre la ES en la gestación debe adoptar un enfoque centrado en las intervenciones educativas que consigan una mayor adherencia a un estilo de vida saludable.
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Educação em Saúde , Saúde do Lactente , Feminino , Recém-Nascido , Gravidez , Humanos , Adulto , Espanha , Família , Estilo de Vida SaudávelRESUMO
Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in HJV and HAMP genes, respectively. We report a child with hepatic iron overload and family history of hemochromatosis. We aim to raise awareness of juvenile hemochromatosis, especially in families with a positive family history, as early diagnosis and treatment may prevent organ involvement and end-stage disease. The purpose of this study was to identify the gene variant that causes the disease. The genetic study was performed with a targeted gene panel: HFE, HJV, HAMP, TFR2, SLC40A1, FTL, and FTH1. We identified the variant c.309C > G (p.Phe103Leu) in the HJV gene in the homozygous state in the patient.
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Microglial activation is an invariant feature of Alzheimer's disease (AD). It is noteworthy that cannabinoids are neuroprotective by preventing ß-amyloid (Aß)-induced microglial activation both in vitro and in vivo. On the other hand, the phytocannabinoid cannabidiol (CBD) has shown anti-inflammatory properties in different paradigms. In the present study, we compared the effects of CBD with those of other cannabinoids on microglial cell functions in vitro and on learning behavior and cytokine expression after Aß intraventricular administration to mice. CBD, (R)-(+)-[2,3-dihydro-5-methyl-3-(4-morpholinylmethyl) pyrrolo-[1,2,3-d,e]-1,4-benzoxazin-6-yl]-1-naphthalenyl-methanone [WIN 55,212-2 (WIN)], a mixed CB(1)/CB(2) agonist, and 1,1-dimethylbutyl-1-deoxy-Δ(9)-tetrahydrocannabinol [JWH-133 (JWH)], a CB(2)-selective agonist, concentration-dependently decreased ATP-induced (400 µM) increase in intracellular calcium ([Ca(2+)](i)) in cultured N13 microglial cells and in rat primary microglia. In contrast, 4-[4-(1,1-dimethylheptyl)-2,6-dimethoxyphenyl]-6,6-dimethyl-bicyclo[3.1.1]hept-2-ene-2-methanol [HU-308 (HU)], another CB(2) agonist, was without effect. Cannabinoid and adenosine A(2A) receptors may be involved in the CBD action. CBD- and WIN-promoted primary microglia migration was blocked by CB(1) and/or CB(2) antagonists. JWH and HU-induced migration was blocked by a CB(2) antagonist only. All of the cannabinoids decreased lipopolysaccharide-induced nitrite generation, which was insensitive to cannabinoid antagonism. Finally, both CBD and WIN, after subchronic administration for 3 weeks, were able to prevent learning of a spatial navigation task and cytokine gene expression in ß-amyloid-injected mice. In summary, CBD is able to modulate microglial cell function in vitro and induce beneficial effects in an in vivo model of AD. Given that CBD lacks psychoactivity, it may represent a novel therapeutic approach for this neurological disease.
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Doença de Alzheimer/patologia , Canabidiol/farmacologia , Canabinoides/farmacologia , Microglia/efeitos dos fármacos , Animais , Sequência de Bases , Células Cultivadas , Primers do DNA , Humanos , Imuno-Histoquímica , Técnicas In Vitro , Camundongos , Óxido Nítrico/biossíntese , Reação em Cadeia da Polimerase , RNA Mensageiro/metabolismo , RatosRESUMO
BACKGROUND: This study aimed to analyze the acute effect of physical exercise on nitric oxide concentration and blood pressure (BP) in older adults with different levels of training status (TS) and verified the influence of endothelial nitric oxide synthase polymorphisms on these variables. METHODS: A total of 145 older adults were divided into good TS (G1) and weak TS (G2). Participants were subjected to a 40-minute treadmill walk (40%-60% of maximum oxygen consumption) with BP measurements and blood collections for plasma nitrite and oxidative stress biomarkers at pretest and posttest moments. Data were analyzed by 2-way repeated-measures with Sidak post hoc test (P < .05) and multivariate linear analysis. RESULTS: After acute exercise, G2 showed an increase in oxidative stress biomarkers (P = .008), and both groups showed an increase in systolic BP (P < .001). Polymorphisms 894G > T and intron 4b/a had no association with nitrite and BP. However, -786T > C polymorphism showed an association with reduced systolic and diastolic BP (TT genotype) and increased diastolic BP (TC genotype). Higher TS level was also associated with lower BP. CONCLUSION: The maintenance of good TS levels may have a protective effect on cardiovascular risks regardless of the genetic profile.
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Envelhecimento , Pressão Sanguínea/fisiologia , Endotélio Vascular/fisiologia , Exercício Físico/fisiologia , Óxido Nítrico Sintase/genética , Óxido Nítrico/sangue , Idoso , Biomarcadores/sangue , Doenças Cardiovasculares/genética , Doenças Cardiovasculares/metabolismo , Endotélio Vascular/metabolismo , Predisposição Genética para Doença/genética , Genótipo , Humanos , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético/genéticaRESUMO
It is well understood that protozoa play a major role in controlling bacterial biomass and regulating nutrient cycling in the environment. Little is known, however, about the movement of carbon from specific reduced substrates, through functional groups of bacteria, to particular clades of protozoa. In this study we first identified the active protozoan phylotypes present in activated sludge, via the construction of an rRNA-derived eukaryote clone library. Most of the sequences identified belonged to ciliates of the subclass Peritrichia and amoebae, confirming the dominance of surface-associated protozoa in the activated sludge environment. We then demonstrated that (13)C-labeled protozoan RNA can be retrieved from activated sludge amended with (13)C-labeled protozoa or (13)C-labeled Escherichia coli cells by using an RNA stable isotope probing (RNA-SIP) approach. Finally, we used RNA-SIP to track carbon from bicarbonate and acetate into protozoa under ammonia-oxidizing and denitrifying conditions, respectively. RNA-SIP analysis revealed that the peritrich ciliate Epistylis galea dominated the acquisition of carbon from bacteria with access to CO(2) under ammonia-oxidizing conditions, while there was no evidence of specific grazing on acetate consumers under denitrifying conditions.
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Amônia/metabolismo , Cilióforos/classificação , Cilióforos/isolamento & purificação , Esgotos/microbiologia , Animais , Bactérias/metabolismo , Carbono/metabolismo , Isótopos de Carbono/metabolismo , Cilióforos/metabolismo , Análise por Conglomerados , DNA de Protozoário/química , DNA de Protozoário/genética , DNA Ribossômico/química , DNA Ribossômico/genética , Eletroforese em Gel de Poliacrilamida , Genes de RNAr , Dados de Sequência Molecular , Desnaturação de Ácido Nucleico , Oxirredução , RNA/metabolismo , RNA de Protozoário/genética , RNA Ribossômico 18S/genética , Análise de Sequência de DNA , Coloração e Rotulagem/métodosRESUMO
La tuberculosis aún es un problema de salud pública mundial. La infección causada por Mycobacterium tuberculosis se manifiesta de forma principal a nivel pulmonar. Sin embargo, alrededor del 20 % de los casos se presentan en otras localizaciones anatómicas y solo el 2 % tiene afectación del tracto respiratorio superior. Se presenta el caso de una mujer de 75 años, reconsultante al servicio de otorrinolaringología por epistaxis, lesiones postillosas en cavidad nasal y hallazgo de masa nasal. Posterior a la resección quirúrgica de la lesión, se logró la comprobación microbiológica de infección por M. tuberculosis. Se realizan estudios para descartar compromiso pulmonar y de otras localizaciones. Posterior al inicio de tratamiento antituberculoso se logró resolución completa de la lesión y no recurrencia de los síntomas. Las formas extrapulmonares de la infección por M. tuberculosis y, en especial las que afectan la región de la cabeza y el cuello, requieren un alto índice de sospecha para su diagnóstico. Los métodos de diagnóstico como la prueba de PCR y los cultivos de tejidos permiten un óptimo inicio del manejo médico de acuerdo con la epidemiología local y las condiciones del paciente.
Tuberculosis is still a global public health burden. Infection caused by the bacillus Mycobacterium tuberculosis (M. Tuberculosis) manifests mainly in the lungs. However, around 20 % of cases occur in other anatomical locations and only 2 % have upper respiratory tract involvement. We present the case of a 75-year-old female patient, who returned to the otorhinolaryngology service due to epistaxis and postillomous lesions in the nasal cavity with a finding of a nasal mass. After surgical resection of the lesion, microbiological confirmation of M. tuberculosis infection is achieved. Studies are performed to rule-out lung involvement, as well as other locations. After the initiation of tuberculosis treatment, complete resolution of the lesion and no recurrence of symptoms is documented. Extrapulmonary forms of M. tuberculosis infection, and especially those involving the head and neck region, require a high index of suspicion for their diagnosis. Diagnostic methods such as PCR testing and tissue cultures allow optimal initiation of medical management according to local epidemiology and patient conditions.
A tuberculose ainda é um problema de saúde pública global. A infecção causada pelo Mycobacterium tuberculoses manifesta-se principalmente nos pulmões. Entretanto, cerca de 20% dos casos ocorrem em outras localizações anatômicas e apenas 2% apresentam comprometimento do trato respiratório superior. É apresentado o caso de uma mulher de 75 anos que retornou ao serviço de otorrinolaringologia por quadro de epistaxe, lesões com crostas em cavidade nasal e descoberta de massa nasal. Após ressecção cirúrgica da lesão, foi realizada verificação microbiológica de infecção por M. tuberculoses. Estudos são realizados para descartar envolvimento pulmonar e otras localizações. Após início do tratamento antituberculoso, houve resolução completa dalesão e não houve recidiva dos sintomas. As formas extrapulmonares da infecção por M. tuberculoses, especialmente aquelas que acometem a região de cabeça e pescoço, requerem alto índice de suspeita para diagnóstico. Métodos de diagnóstico, como testes de PCR e culturas de tecidos, permitem o início ideal do tratamento médico de acordó com a epidemiologia local e as condições do paciente.
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HumanosRESUMO
Introducción:el síndrome de Dravet, también conocido como epilepsia mioclónica grave de la infancia, corresponde a una encefalopatía epiléptica resistente a fármacos que inicia generalmente en el primer año de vida. Se caracteriza por crisis epilépticas que suelen tener múltiples desencadenantes; el más asociado es la presencia de episodios febriles previos. Se considera una enfermedad rara, debido a su baja incidencia y prevalencia. Presentación del caso: niño de 10 años de edad con un cuadro de epilepsia de origen estructural, asociada con un retraso en el neurodesarrollo y anomalías craneofaciales meno-res, con antecedente de cardiopatía congénita no corregida, colpocefalia y agenesia del cuerpo calloso. Debido a la persistencia de las crisis convulsivas y su consiguiente resistencia farmacológica, se le rea-lizó un exoma genético que evidenció una mutación del gen SCN9. Discusión: el síndrome de Dravet debe ser sospechado en todo paciente menor de un año que tenga crisis convulsivas a repetición asociadas con episodios febriles cuantificados. Aproximadamente, entre el 70 % y el 85 % de los pacientes con el diagnóstico de síndrome de Dravet presenta una mutación en el gen SCN1A, por lo que mutaciones en otros genes que codifican para canales de sodio, ubicados en el mismo cromosoma, como el SCN9A, podrían contribuir de forma multifactorial a dicha entidad
Introduction: Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a drug resistant epileptic encephalopathy that usually begins in the first year of life. It is characterized by the presence of epileptic seizures that usually have multiple triggers; the most currently associated is the presence of previous febrile episodes. It is considered as a rare disease due to its low incidence and prevalence. Case presentation: We reported the case of a ten-year-old boy with structural epilepsy associated with a neuro-developmental delay and minor craniofacial anomalies. He had a history of uncorrected congenital heart disease, colpocephaly, and agenesis of the corpus callosum. Due to the persistence of seizures secondary to drug resistance, it was decided to perform a genetic exome that evidenced a mutation of the SCN9A gene. Conclusions: Dravet syndrome should be suspected in all patients under one year of age who have recu-rrent seizures associated with fever that does not respond to medication and modifies its presentation. Approximately 70%−85% of the patients diagnosed with Dravet syndrome have a mutation in the SCN1A gene; therefore, mutations in other genes that encode sodium channels located on the same chromosome, such as SCN9A, could contribute in a multifactorial way.
Introdução: a síndrome de Dravet, também conhecida como epilepsia mioclônica grave da infância, corresponde a uma encefalopatia epiléptica resistente a medicamentos que geralmente se inicia no primeiro ano de vida. É caracterizada pela presença de crises epilépticas que costumam ter múltiplos detonantes, sendo que o mais associado atualmente é a presença de episódios febris prévios. É conside-rada uma doença rara devido à sua baixa incidência e prevalência. Apresentação do caso: é apresentado o caso de um menino de 10 anos de idade com quadro de epilepsia de origem estrutural, associada a atraso no desenvolvimento neurológico e pequenas anomalias craniofaciais; com histórico de cardio-patia congênita não corrigida, colpocefalia e agenesia do corpo caloso. Devido à persistência das crises epilépticas e consequente resistência farmacológica, optou-se pela realização de um exoma genético que apresenta uma mutação do gene SCN9. Discussão: a síndrome de Dravet deve ser suspeitada em todos os pacientes com menos de um ano de idade que apresentam convulsões repetidas associadas a episódios febris quantificados. Aproximadamente 70 a 85% dos pacientes com diagnóstico de síndrome de Dravet apresentam mutação no gene SCN1A, portanto mutações em outros genes que codificam canais de sódio, localizados no mesmo cromossomo, como o SCN9A, poderiam contribuir de forma multifatorial para essa entidade
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Humanos , Criança , Epilepsias Mioclônicas , Convulsões , Encefalopatias , Resistência a Medicamentos , Criança , Epilepsia Generalizada , Epilepsia Resistente a MedicamentosRESUMO
The response of ten soils of the lithic Rhodoxeralf type to the supply of lead at concentrations of 500, 1000, 2000, 3000, 4000, 5000 and 6000 mg kg-1 was examined in batch sorption-desorption tests. Lead availability in the soils was found to depend on its partitioning between the soil solution and the solid phase as reflected in adsorption isotherms. The isotherms, of the H type, were consistent with a high affinity of the sorbent for the metal, with which it forms stable inner-sphere complexes on the soil surface. Sorption-desorption tests revealed that some properties of the soils such as their pH (mean=8) and high contents in clays (particularly in kaolinite) and crystalline iron oxides significantly influence Pb sorption, the effect being especially marked at high added metal concentrations. Added lead is largely retained by crystalline iron oxides and the soil clay fraction; the pH of the soil favours the release of variably-charged sites from both. The extent of Pb desorption was small, particularly at the lowest added levels (500 and 1000 mg kg-1). Desorption increased with increasing added Pb concentration and exceeded 50% at 5000 and 6000 mg kg-1; this suggests that Pb is present not only as inner-sphere complexes, but also as outer-sphere complexes and, partly, as precipitates. The desorption isotherms consist of three segments that exhibit significant differences depending on the added Pb concentration, namely: 500-1000, 2000-4000 and 5000-6000 mg kg-1.
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Chumbo/análise , Poluentes do Solo/análise , Poluentes Químicos da Água/análise , Adsorção , Monitoramento Ambiental , Compostos Férricos/análise , Geografia , Concentração de Íons de Hidrogênio , Região do Mediterrâneo , Metais/análise , Solubilidade , Fatores de TempoRESUMO
RESUMEN A nivel mundial se estiman que cada año se diagnostican aproximadamente 650 000 nuevos casos de cáncer escamoso de cabeza y cuello. Ocasionan 300 000 muertes y dos tercios de estos casos se originan en países en vías de desarrollo. Se presentó un caso de un paciente atendido en consulta a causa de crecimiento acelerado de la región frontotemporoparietal derecha, acompañado de sintomatología neurológica correspondiente a una afección funcional de los lóbulos parietal y temporal derecho. Se le realizó exámenes imagenológicos y biopsia por punción de la lesión, lo que arrojó un carcinoma escamoso como variedad histológica de la tumoración (AU).
ABSTRACT It is thought that around 650 000 new cases of head and neck squamous tumors are diagnosed in the world every year. They cause 300 000 deaths and two thirds of these cases are originated in developing countries. We presented the case of a patient who assisted the consultation due to the fast growth of the right frontotemporal parietal region, accompanied with neurological symptomatology corresponding to a functional disorder of the right parietal and temporal lobes. Imaging studies and a biopsy by lesion puncture were performed. It showed a squamous carcinoma as histological variant of the tumor (AU).
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Humanos , Masculino , Idoso , Neoplasias Encefálicas , Carcinoma de Células Escamosas/diagnóstico , Espectroscopia de Ressonância Magnética , Tabagismo/diagnóstico , Tabagismo/epidemiologia , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/radioterapia , Carcinoma de Células Escamosas/diagnóstico por imagem , Amnésia Anterógrada , Escala de Resultado de Glasgow , Hipertensão/diagnóstico , Oncologia , NeurocirurgiaRESUMO
ABSTRACT As the population ages, health conditions, including hypertension (HT), which is one of the most prevalent diseases in the elderly population, increase. Regular physical exercise has been recommended for hypertensive individuals; however, due to the variety of factors involved in exercise, different acute responses can be achieved. Accordingly, the purpose of this study was to perform a systematic review of the acute effect of physical exercise on blood pressure (BP) in elderly hypertensive patients and of its applicability to the treatment of HT. The search was performed in electronic databases available at Pubmed/Medline, Scopus and Bireme from 2008 to 2018, using the terms "acute physical exercise and hypertension and elderly". A total of 592 articles were found, and after applying the inclusion criteria, 9 articles were selected to form the analysis. All studies evaluated the acute effect of the exercise session and the acute effect of the session after a training period in male and female hypertensive individuals aged 60 years or over. The results indicate that in spite of the heterogeneity of training methods, all intervention protocols used in these studies were effective in promoting BP reduction post exercise when compared to the control group. However, there is still a gap in the reviewed literature regarding the maintenance time of post exercise hypotension (PEH) in the elderly. This information could suggest how long individuals undergoing physical exercise would be "protected" from high blood pressure values and their health risks, and help plan physical exercise sessions at the precise time the hypotensive effect ceases to be present. Level of evidence II; Therapeutic studies-Investigation of treatment results.
RESUMO À medida que a população envelhece, aumentam os agravos de saúde, entre eles, a hipertensão arterial (HA) destaca-se como uma das doenças de maior prevalência na população idosa. O exercício físico regular tem sido recomendado para indivíduos hipertensos, entretanto devido à variedade com que o exercício pode ser realizado, diferentes respostas agudas podem ser obtidas. Sendo assim, o objetivo do presente estudo consistiu em realizar uma revisão sistemática sobre o efeito agudo do exercício físico na pressão arterial (PA) em idosos hipertensos e sua aplicabilidade para o tratamento da HA. A busca foi realizada a partir de bancos de dados eletrônicos disponíveis no Pubmed/Medline, Scopus e Bireme de 2008 a 2018, utilizando os termos "acute physical exercise and hypertension and elderly". Foram encontrados 592 artigos e, após aplicar os critérios de inclusão, foram selecionados nove artigos que fizeram parte da análise, os quais avaliaram o efeito agudo da sessão de exercício e o efeito agudo da sessão após um período de treinamento em indivíduos hipertensos, com idade a partir de 60 anos, de ambos os sexos. Os resultados apontam que apesar da heterogeneidade nos métodos de treinamento, todos os protocolos de intervenção utilizados nesses estudos foram eficazes na promoção da redução da PA pós-exercício quando comparados ao grupo controle. No entanto, ainda existe uma lacuna na literatura revisada em relação ao tempo de manutenção da hipotensão pós-exercício (HPE) em idosos. Essa informação poderia sugerir por quanto tempo os praticantes estariam "protegidos" dos elevados valores pressóricos e seus riscos para a saúde e auxiliar no planejamento das sessões de exercício físico, justamente quando o efeito hipotensor estivesse deixando de se manifestar. Nível de evidência II; Estudos terapêuticos-Investigação dos resultados do tratamento.
RESUMEN A medida que la población envejece, aumentan los agravios de salud, entre ellos, la hipertensión arterial (HA) se destaca como una de las enfermedades de mayor prevalencia en la población anciana. El ejercicio físico regular ha sido recomendado para individuos hipertensos, sin embargo, debido a la variedad con que el ejercicio puede ser realizado, diferentes respuestas agudas pueden ser obtenidas. Siendo así, el objetivo del presente estudio consistió en realizar una revisión sistemática sobre el efecto agudo del ejercicio físico en la presión arterial (PA) en ancianos hipertensos y su aplicabilidad para el tratamiento de la HA. La búsqueda fue realizada a partir de bancos de datos electrónicos disponibles en el Pubmed/Medline, Scopus y Bireme de 2008 a 2018, utilizando los términos "acute physical exercise and hypertension and elderly".Se encontraron 592 artículos y, después de aplicar los criterios de inclusión, se seleccionaron nueve artículos que formaron parte del análisis, los cuales evaluaron el efecto agudo de la sesión de ejercicio y efecto agudo de la sesión después de un período de entrenamiento en individuos hipertensos, con edad a partir de 60 años, de ambos sexos. Los resultados apuntan que, a pesar de la heterogeneidad en los métodos de entrenamiento, todos los protocolos de intervención utilizados en estos estudios fueron eficaces en la promoción de la reducción de la PA postejercicio cuando comparados con el grupo control. Sin embargo, todavía existe un vacío en la literatura revisada con relación al tiempo de mantenimiento de la hipotensión postejercicio (HPE) en ancianos. Esta información podría sugerir por cuánto tiempo los practicantes estarían "protegidos" de los elevados valores presóricos y sus riesgos para la salud y auxiliar en la planificación de las sesiones de ejercicio físico, justamente cuando el efecto hipotensor estuviera dejando de manifestarse. Nivel de evidencia II; Estudios terapéuticos-Investigación de los resultados del tratamiento.
RESUMO
AIMS: 1. To describe clinical and pathologic characteristics of patients with coccidioidomycosis (CM) who died from 1983-2000 at a hospital in northeastern Mexico, and 2, to know distribution of number of deaths due to CM per year and month. METHODS: From 4598 autopsies, 31 cases of CM were selected. Clinical chart and autopsy protocols were examined. Distribution of cases was analyzed by contingence table and Kolmogorov-Smirnov tests. RESULTS: There were 10 women and 21 men (aged 4 months to 60 years). In women, pregnancy was present in 40% of cases. In men, chronic renal failure (CRF) (38%) and AIDS (19%) were the pathologic conditions most frequently observed. Variation in distribution of cases throughout 18 years was not observed (p > 0.05). CONCLUSIONS: Mortality due to CM was 0.67% and variation in number of deaths was not found. In this endemic area, CM must be included in differential diagnosis of patients with risk factors such as pregnancy, CRF, and AIDS, especially if associated with pneumonia with miliary pattern or septicemia with splenomegaly.
Assuntos
Coccidioidomicose/mortalidade , Coccidioidomicose/patologia , Adolescente , Adulto , Autopsia , Causas de Morte , Coccidioidomicose/terapia , Feminino , Humanos , Lactente , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Gravidez , Estudos Retrospectivos , Fatores de RiscoRESUMO
This is a review of the literature regarding high-performance liquid chromatography-diode array detection (HPLC-DAD) procedures for the detection and determination of several categories of central nervous system-acting drugs in blood, plasma, or serum samples. Psychiatric and neurological drugs, such as antidepressants, benzodiazepines, antipsychotics, antiepileptics, and antiparkinsonians, have been included because of their relevance to therapeutic drug monitoring and systematic toxicological analysis. Articles published between 2000 and January 2012 have been taken into consideration. This review has focused on methodological approaches, sample pretreatment techniques, and other practical aspects.
Assuntos
Fármacos do Sistema Nervoso Central/sangue , Plasma/química , Soro/química , Cromatografia Líquida de Alta Pressão/métodos , HumanosRESUMO
Following the emergence of the A(H1N1)pdm09 in humans, this novel influenza virus was reverse transmitted from infected people to swine population worldwide. In this study we investigated the molecular evolution of A(H1N1)pdm09 virus identified in pigs reared in a single herd. Nasal swabs taken from pigs showing respiratory distress were tested for influenza type A and A(H1N1)pdm09 by real-time RT-PCR assays. Virus isolation from positive samples was attempted by inoculation of nasal swabs samples into specific pathogen free embryonated chicken eggs (ECE) and complete genome sequencing was performed on virus strains after replication on ECE or from original swab sample. The molecular analysis of hemagglutinin (HA) showed, in four of the swine influenza viruses under study, a unique significant amino acid change, represented by a two-amino acid insertion at the HA receptor binding site. Phylogenetic analysis of HA, neuraminidase, and concatenated internal genes revealed a very similar topology, with viruses under study forming a separate cluster, branching outside the A(H1N1)pdm09 isolates recognized until 2014. The emergence of this new cluster of A(H1N1)pdm09 in swine raises further concerns about whether A(H1N1)pdm09 with new molecular characteristics will become established in pigs and potentially transmitted to humans.