Impact of angiotensin-converting enzyme inhibition on hemodynamic and autonomic profile of elastase-2 knockout mice

Elastase-2 (ELA-2) is an angiotensin II-generating enzyme that participates in the cardiovascular system. ELA-2 is involved in hemodynamic and autonomic control and is upregulated in myocardial infarction and hypertension. The inhibition of angiotensin-converting enzyme (ACE) increased ELA-2 expression in the carotid arteries and heart of spontaneously hypertensive rats. In this study, we sought to investigate the role of ACE inhibition in hemodynamic and autonomic balance in elastase-2 knockout (ELA-2 KO) mice. Male ELA-2 KO and C57BL/6 mice were treated with the ACE inhibitor enalapril or saline for 10 days. After treatment, mice underwent surgery for cannulation of the femoral artery and arterial pressure recordings were made five days later in awake animals. The variability of systolic blood pressure (SBP) and pulse interval (PI) was evaluated in the time and frequency domain. Spontaneous baroreflex was assessed by the sequencing method. ACE inhibition caused a significant decrease in mean arterial pressure (117±2.2 vs 100±2.8 mmHg) and an increase in heart rate (570±32 vs 655±15 bpm) in ELA-2 KO mice. Despite a tendency towards reduction in the overall heart rate variability (standard deviation of successive values: 7.6±1.1 vs 4.7±0.6 ms, P=0.08), no changes were found in the root of the mean sum of squares or in the power of the high-frequency band. ACE inhibition did not change the spontaneous baroreflex indices (gain and baroreflex effectiveness index) in ELA-2 KO mice. Altogether, this data suggested that ACE played a role in the maintenance of hemodynamic function in ELA-2 KO mice.

The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation / A história por detrás da ELA tipo 8: da primeira descrição do fenótipo à descoberta da mutação VAPB

ABSTRACT Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr.

RESUMO Nos últimos 68 anos, a atrofia muscular espinhal (AME), autossômica dominante, de início tardio, em adultos, conhecida como doença de Finkel, que é alélica com esclerose lateral amiotrófica tipo 8 (ELA8), ganhou uma correlação fenotípica e genotípica dentre as doenças do neurônio motor, a partir da colaboração dos grupos de Zatz e Marques Jr.

Relación entre soporte social y TIC´s en cuidadores familiares de personas con Esclerosis Lateral Amiotrófica / Relationship between social support and ICTs in family caregivers of people with Amyotrophic Lateral Sclerosis

Introducción: La esclerosis lateral amiotrófica (ELA) es una enfermedad neurodegenerativa devastadora que se manifiesta por debilidad muscular y produce dificultades progresivas de movilización, comunicación, alimentación y, en última instancia, respiración, creando una dependencia creciente de familiares y de otros cuidadores La experiencia de cuidado demanda esfuerzo físico, emocional y social requiriendo todo tipo de apoyos, en especial aquellos que brinda la tecnología para proveer soporte social ya que algunas experiencias con TIC's han demostrado eliminar barreras en el acceso al cuidado, disminuir los costos que implican en los cuidadores el desplazamiento y el tiempo, garantizando un servicio disponible para la persona enferma en su ausencia. Objetivo: Describir cómo se relacionan la apropiación de las tecnologías de la información y comunicación y la percepción de soporte social en cuidadores familiares de personas con Esclerosis Lateral Amiotrófica que pertenecen a la Asociación Colombiana de Esclerosis Lateral Amiotrófica. Método: Estudio descriptivo, de relación, abordaje cuantitativo, de corte trasversal. Participaron 76 cuidadores familiares de personas con ELA pertenecientes a ACELA. Instrumentos utilizados: GCPC-UN-D Este instrumento se define como una encuesta de caracterización para el cuidado de una "Diada persona con enfermedad crónica- cuidador familiar" se identifican las necesidades básicas de información para cuidar a una Diada a través de 42 ítems y tres dimensiones: 1) Las condiciones y perfil socio demográfico de la Diada. 2) La percepción de carga y apoyo. 3) Los medios de información y comunicación " y el Cuestionario estudio de desenlaces médicos de apoyo social MOS (Sherbourne & Stewart, 1991) el cual contiene 4 dimensiones de apoyo social funcional o cualitativo: a) apoyo emocional/informacional; b) interacción social positiva; c) apoyo afectivo y d) apoyo instrumental de ayuda material o tangible. El análisis estadístico de relación se realizó mediante la determinación de los coeficientes de correlación de Spearman. Resultados: Las características socio demográficas de los cuidadores de personas con ELA son: mayoría mujeres, edades entre los 30 a 49 años, estado civil casados, estrato socioeconómico 5 y 6, nivel educativo bachillerato, ocupación empleados. Cuando se analiza la apropiación de todas las TIC´s surge de revisar el acceso, el conocimiento y el uso de estas TIC's. Los hallazgos señalan que la apropiación de las tecnologías es heterogénea dentro del grupo de cuidadores además que tienen una elevada apropiación de las mismas. Se evidencia que predomina una percepción alta del soporte social en cada una de las dimensiones. A pesar de no encontrar relación estadísticamente significativa entre la percepción de soporte social y la apropiación de las TIC´s, si se presenta relación fuerte y estadísticamente significativa entre las variables Uso de las TIC´s para el cuidado de la persona con ELA y el apoyo percibido para el cuidado por parte del cuidador familiar de estas personas. Conclusiones: Al establecer la relación entre el soporte social percibido y la apropiación de las TIC's en cuidadores de personas con ELA, se acepta la hipótesis nula de que no existe relación estadísticamente significativa entre las dos variables. Se requiere, a partir de estudios posteriores, qué otras variables inciden en el soporte social percibido ya que hay una relación estadísticamente significativa y fuerte entre el uso de las TIC´s para el cuidado y la percepción de soporte a través de ellas genera alternativas para mayores exploraciones del fenómeno abordado.

Introduction: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease manifested by progressive muscle weakness and produces difficulties of mobilization, communication, food and, ultimately, breathing, creating a growing dependence on family and other caregivers Experience care demands physical, emotional and social effort requiring all kinds of support, especially those offered by technology to provide social support as some experiences with ICT have proven to eliminate barriers to access to care, reduce costs involved in caregivers the displacement and time, ensuring a service available to the sick person in his absence. To describe how the appropriation of information technologies and communication and perception of social support family caregivers of people with ALS who belong to the Colombian Association of Amyotrophic Lateral Sclerosis relate. Method: Descriptive, relationship, quantitative approach to cross-cutting. They involved 76 family caregivers of people with ALS belonging to ACELA. Instruments used: GCPC-A-D This instrument is defined as a characterization survey for the care of a "National Day person familiar chronicle disease caregiver" basic information needs are identified to care for a National Day through 42 items and three dimensions: 1) The conditions and sociodemographic profile of the Day. 2) The perception of load and support. 3) The means of information and communication "and the Medical Outcomes Study Questionnaire of social support MOS (Sherbourne & Stewart, 1991) which contains 4 functional or qualitative dimensions of social support: a) emotional / informational support; b) positive social interaction; c) emotional support d) instrumental support material or tangible help. Statistical analysis was performed relationship by determining the Spearman correlation coefficients. Results: Demographic partner caregivers of people with ALS features are mostly women aged 30-49 years married marital status, socioeconomic stratum 5 and 6, high school education, occupation employees. When all the appropriation of ICTs arises to review the access, knowledge and use of these ICTs it is analyzed. The findings indicate that the appropriation of technologies is heterogeneous within the group of caregivers also having a high ownership of them. It is evident that dominates a high perception of social support in each of the dimensions. Despite not find statistically significant relationship between perceived social support and appropriation of ICTs, if strong and statistically significant relationship occurs between the variables use of ICT for the care of the person with ALS and perceived support for care of the family caregiver of these people. Conclusions: To establish the relationship between perceived social support and appropriation of ICTs in carers of people with ALS, the null hypothesis that there is no statistically significant relationship between the two variables is accepted. It requires from later studies, what other variables affect the perceived social support as there is a statistically significant and strong relationship between the use of ICT for the care and support perception through them generates alternatives further exploration of the phenomenon addressed.

Embolismo de líquido amniótico / Amniotic fluid embolism

Se valoró un caso de una femenina quien es internada por embarazo en vías de prolongación para inducción del mismo, posterior a su labor presenta sangrado transvaginal abundante por lo que es ingresada a sala de operaciones, no se le encuentra sitio de sangrado, le realizan histerectomía y fallece; es enviada para su respectiva autopsia, se determina como causa de muerte: embolismo de líquido amniótico. Este artículo pretende revisar la etiología de esta patología, fisiopatología, criterios diagnósticos del mismo, factores de riesgo, diagnósticos diferenciales y su tratamiento.

A case of a female who is hospitalized for pregnancy-way extension for induction thereof, after their work presents TVB abundant so it is entered into operating room were assessed, you will not find the bleeding site, we performed hysterectomy and dies; is sent to the respective autopsy determined the cause of death: amniotic fluid embolism. This article reviews the etiology of this pathology, pathophysiology, diagnostic criteria thereof, risk factors, differential diagnosis and treatment.

Consumo de aminoácido de cadeia ramificada na esclerose lateral amiotrófica: suplemento proteico ou substância neurotóxica? / Branched-chain amino acid consumption in amyotrophic lateral sclerosis: protein supplement or neurotoxic substance?

Estudos demonstraram efeito positivo principalmente no ganho ponderalem pacientes com esclerose lateral amiotrófica (ELA), suplementadoscom aminoácidos de cadeia ramificada (AACR). Achados recentes têm mostrado que o consumo excessivo e crônico de AACR pode contribuir para a progressão da doença, provavelmente devido a estes serem precursores do glutamato. O objetivo deste estudo foi avaliar a evidência acerca da utilização dos AACR por pacientes com ELA, a fim de elucidar questões pertinentes a sua ingestão. Foi feita busca em base de dados de artigos científicos relacionados ao consumo de AACR na ELA, no período de 1988 a 2013. Foram encontrados seis artigos relacionados ao consumo de AACR por pacientes com ELA. Desses, um referiu melhora da força, enquanto os outros relataram ganho ponderal ou não mostraram resultados significativosem relação aos desfechos. Além disso, foi possível observar uma estreita relação entre o consumo excessivo e crônico dos AACR com o agravamento da doença. À luz dos conhecimentos ora disponíveis, a suplementação com AACR não é recomendada devido aos possíveis efeitos nocivos. O consumo adequado de alimentos proteicos, fontes desses aminoácidos, deve ser utilizado pelos pacientes, respeitando as recomendações estabelecidas. No entanto, estudos adicionais devem ser desenvolvidos em virtude do escasso número de publicações disponíveis.

Studies have shown positive effect mainly in weight gain inpatients with amyotrophic lateral sclerosis (ALS) supplemented with branched chain amino acids (BCAA). However, recent studies have shown that excessive and chronic intake has contributed to the worsening of the disease progression, probably because the amino acids are glutamate precursors. The objective of this study was to assess the evidence about the use of BCAA by patients with ALS, with the aim to clarify pertinent issues for its intake. A search was conducted in data bases for scientific papers related to the intake of BCAA in ALS, between 1988 and 2013. For these review six articles related to the use of BCAA in ALS were found. Of these, one described strength improvement, while the remaining reported weight gain or no significant effects in relation to the outcome. Additionally, it waspossible to observe a close relationship between the excessive and chronic BCAA intake with the worsening of the disease. Considering the presente day available knowledge BCAA supplementation should not be indicated due to the possible harmful effect. The intake of appropriated protein foods should be consumed by these patients, respecting the suggested recommendation. However, more studies are necessary due to the scarce papers in this area.

Epidemiology of amyotrophic lateral sclerosis patients in a centre in Buenos Aires / Epidemiología de los pacientes con esclerosis lateral amiotrófica en el centro de Buenos Aires

Sporadic amyotrophic lateral sclerosis (sALS) is considered a multifactorial disease with genetic and environmental factors causing motor neuron degeneration. OBJECTIVE: To describe the epidemiological and occupational characteristics of patients with sALS who attended the Ramos Mejía Hospital at Buenos Aires, Argentina. METHOD: We analyzed the medical records of sALS patients diagnosed between 2001 and 2008. All occupations were coded according to the International Standard Classification of Occupation (ISCO). RESULTS: 187 patients were assessed, 38.5 percent were women and 61.5 percent men. Mean age at diagnosis was 55 years. 16 percent of them came from rural areas; 68 percent of the studied population had no health insurance. 40 percent were employed in elementary occupations, 19 were technicians and 8 handicraftsmen. CONCLUSION: The most represented profession was elementary occupation. A large proportion of patients came from rural areas, which might suggest an increased risk of environmental exposure to an unknown agent in those regions.

La esclerosis lateral amiotrófica esporádica (ELAe) es considerada una enfermedad multifactorial. OBJETIVO: Describir las características epidemiológicas y laborales de un grupo de pacientes con ELAe que fueron evaluados en el Hospital Ramos Mejía de Buenos Aires, Argentina. MÉTODO: Se analizaron los registros médicos de pacientes con ELAe diagnosticados entre 2001 y 2008. Las ocupaciones fueron codificadas de acuerdo a la Clasificación Internacional de Ocupaciones (ISCO). RESULTADOS: 187 pacientes fueron evaluados, 38,5 por ciento mujeres y 61,5 por ciento hombres. Edad media al diagnóstico 55 años. 16 por ciento procedían de zonas rurales, 68 por ciento no tenía seguro de salud. 40 por ciento se encontraba empleado en ocupaciones elementales, 19 por ciento eran técnicos , 8 por ciento artesanos y 7 por ciento operadores de maquinas. CONCLUSIÓN: La profesión más representada fue la de ocupación elemental. Una gran proporción de los pacientes provenían de zonas rurales, lo que podría sugerir un mayor riesgo de exposición ambiental a un agente desconocido en esas regiones.

Molecular Analysis of Two Cases of Severe Congenital Neutropenia / 대한진단검사의학회지

Severe congenital neutropenia is a rare hematological disease characterized by a selective decrease in circulating neutrophils, maturation arrest of granulocytic precursors at the promyelocyte stage, and recurrence of infections. A 2-month-old male infant (patient A) and a 14-month-old female child (patient B) were referred to our hospital due to severe neutropenia. Sequencing analysis of ELA2 and HAX1 genes was performed. Two single nucleotide polymorphisms of HAX1 gene were found. They were 5,104T-->G point mutation of exon 1 and 5,474A-->G point mutation of intron 1 in HAX1 gene. The mutation of ELA2 gene was not found. The patient A showed a good response to granulocyte colony-stimulating factor (G-CSF) treatment and the absolute neutrophil count recovered to 1,195/microliter. But the patient B showed a partial response to G-CSF treatment and experienced several episodes of herpetic gingivostomatitis, oral ulcer, acute pharyngotonsillitis and otitis media during follow-up.

THe Best Measuring Method about Observation of Efficacy for the Infected People by Hp / 医学研究杂志

Objective To probe into the best measuring method about observation of efficacy for the infected people by Hp.Methods 4 patients infected by Hp took orally priplicatial drugs,we had their feces measured with HPSA reagent in the fist,the second,the third,the fourth,the fifth,the sixth,the seventh,the thirtieth,the sixtieth,the nin-etieth day and one year,and observed the efficacy.Results The HPSA results of 4 patients were positive in the first and the second days,1 patient had a positive result in the third day,while others were neg-ative,4 patients' resuts were negative from the fourth day to the seventh day,1 patient's result was positive in the thirtieth day,others were negative.4 patients' results were negative in the sixtieth,the ninetieth day and one year.Conclusions Through theraping,4 patients had been cured.Fecal HPSA's measure with ELA method was the best method about monitoring the efficacy after treatment.