Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23
Filtrar
1.
Rev. argent. dermatol ; 100(3): 16-20, set. 2019. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1057378

RESUMO

Resumen Las porfirias son errores congénitos poco frecuentes del metabolismo de las porfirinas. La porfiria cutánea tardía (PCT) es la más frecuente dentro de este grupo de enfermedades. Reportamos el estudio evolutivo de metabolitos porfirínicos de una paciente de 51 años con porfiria cutánea tardía, cuatro años después de su diagnóstico. Durante este período, se le indicó un esquema terapéutico de flebotomías en el Instituto de Hematología e Inmunología. Uno de los exámenes complementarios para su seguimiento fue la determinación de porfirinas totales en la orina, plasma y heces. Los resultados del estudio bioquímico de las porfirinas mostraron mejoría en todos los parámetros, lo que contribuyó a corroborar la utilidad del estudio de estos metabolitos como seguimiento de esta enfermedad y efectividad del tratamiento.


Abstract Porphyrias are rare congenital errors in the metabolism of porphyrins. Porphyria cutanea tarda is the most frequent among different types of porphyrias. We report the follow-up study of porphyrin metabolites of a 51-year-old patient with porphyria cutanea tarda four years later of her diagnosis. During this period, it was indicated a therapeutic scheme of phlebotomies in the Institute of Hematology and Immunology. One of the complementary examinations for its follow-up was the determination of total porphyrins in the urine, plasma and feces. Porphyrins in plasma decreased from 13 500 nmol/L at onset of disease to 250 nmol/L four years later. Although, porphyrins in feces and plasma could not quantify, we observed non-presence of peaks at 405 nm and 615.1 nm, respectively. These results contributed to corroborate the usefulness of the study of these metabolites for monitoring of this disease and effectiveness of the treatment.

2.
Waste Manag Res ; 36(8): 689-697, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30024352

RESUMO

The management of municipal solid waste in the Republic of Kazakhstan is still in its infancy. This situation poses a potential threat to the environment and public health and, therefore, it is necessary to introduce improved management schemes in the country. In this study, the life cycle assessment methodology was followed to evaluate the potential environmental benefits of implementing alternative management schemes based on low-waste generation and renewable energy production. The current situation of the capital city Astana was considered as the base case. Environmental results showed that air emissions in terms of landfill gases are the major contributor to climate change impacts, while landfill disposal of the non-recovered fraction of recyclable materials was responsible for the highest impacts in the other categories (especially land use). However, the reuse of recycled materials largely offsets the related environmental burdens, along with energy generation. In comparative terms, it was demonstrated that the proposed waste management scenarios are more environmentally friendly than current practices (S0), mainly owing to the credits associated with the valorisation of renewable energy (S2) and recovered materials (S3). Consequently, the evaluation showed that greater efforts should be made to exploit the energy potential of organic fraction, together with higher recycling rates, to move towards lower environmental impacts associated with municipal solid waste management.


Assuntos
Eliminação de Resíduos , Gerenciamento de Resíduos , Cidades , Cazaquistão , Resíduos Sólidos , Instalações de Eliminação de Resíduos
3.
Waste Manag ; 77: 276-286, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29685601

RESUMO

The application of livestock manure on agricultural land is being restricted due to its significant content of phosphorus (P) and nitrogen (N), leading to eutrophication. At the same time, the growing demand for N and P mineral fertilizers is increasing their production costs and causing the depletion of natural phosphate rock deposits. In the present work, seven technologically feasible treatment schemes for energy (biogas) and nutrient recovery (e.g., struvite precipitation) and/or removal (e.g., partial nitritation/anammox) were evaluated from an environmental perspective. In general, while approaches based solely on energy recovery and use of digestate as fertilizer are commonly limited by community regulations, strategies pursuing the generation of high-quality struvite are not environmentally sound alternatives. In contrast, schemes that include further solid/liquid separation of the digestate improved the environmental profile, and their combination with an additional N-removal stage would lead to the most environmental-friendly framework. However, the preferred scenario was identified to be highly dependent on the particular conditions of each site, integrating environmental, social and economic criteria.


Assuntos
Fertilizantes , Esterco , Nitrogênio , Fósforo , Animais , Gado , Estruvita
4.
Sci Total Environ ; 616-617: 1317-1329, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29107364

RESUMO

This study focuses on the assessment of the environmental profile of a milk farm, representative of the dairy sector in Northeast Spain, from a cradle-to-gate perspective. The Life Cycle Assessment (LCA) principles established by ISO standards together with the carbon footprint guidelines proposed by International Dairy Federation (IDF) were followed. The environmental results showed two critical contributing factors: the production of the livestock feed (e.g., alfalfa) and the on-farm emissions from farming activities, with contributions higher than 50% in most impact categories. A comparison with other LCA studies was carried out, which confirmed the consistency of these results with the values reported in the literature for dairy systems from several countries. Additionally, the Water Footprint (WF) values were also estimated according to the Water Footprint Network (WFN) methodology to reveal that feed and fodder production also had a predominant influence on the global WF impacts, with contributions of 99%. Green WF was responsible for remarkable environmental burdens (around 88%) due to the impacts associated with the cultivation stage. Finally, the substitution of alfalfa by other alternative protein sources in animal diets were also proposed and analysed due to its relevance as one of the main contributors of livestock feed.


Assuntos
Conservação dos Recursos Naturais/métodos , Indústria de Laticínios/métodos , Abastecimento de Água/estatística & dados numéricos , Ração Animal , Animais , Pegada de Carbono , Meio Ambiente , Leite , Espanha
5.
J Neurol Sci ; 375: 324-330, 2017 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-28320161

RESUMO

Arterial hypertension (HT) and other vascular pre-existing conditions (PEC) generate asymptomatic brain damage which increases the occurrence of stroke and cognitive decline. The aim of this work was to explore if serum antibodies against the NR2 subunit of the NMDA receptor (NR2Ab) could predict subclinical brain damage (SBD) in hypertensive patients with PEC. Forty seven neurologically asymptomatic hypertensive subjects were classified according to the number of PEC (retinopathy, overweight/obesity, diabetes mellitus and dyslipidemia). NR2A/B Ab were measured in serum employing an ELISA method. 3.0-T Brain MRI imaging was performed, and visual ratings of white matter hyperintensities (WMH) and counts of dilated Virchow-Robin spaces (DVRS) and lacunes were obtained. Brain atrophy was evaluated with cortical thickness measurements and linear measures. Higher levels of NR2Ab were associated with more severe periventricular WMH (PWMH), more DVRS and more severe SBD; while greater frontal interhemispheric fissure width (IHFW), as a linear measure of frontal atrophy, was inversely related with NR2Ab. Overall and regional cortical thickness were not significantly associated with NR2 Ab. A multivariate analyses showed that IHFW and PWMH were the only variables independently associated with serum NR2Ab concentration. ROC analysis revealed that NR2Ab (cutoff: 1.7ng/ml) predicted PWMH with a sensitivity and specificity of 65% and 87% respectively. CONCLUSIONS: Serum NR2Ab levels may reflect SBD in HT subjects with PEC, especially in younger populations at risk, where age-related cortical atrophy has not yet been fully established.


Assuntos
Autoanticorpos/sangue , Lesões Encefálicas/sangue , Lesões Encefálicas/etiologia , Hipertensão/complicações , Cobertura de Condição Pré-Existente/estatística & dados numéricos , Receptores de N-Metil-D-Aspartato/imunologia , Adulto , Idoso , Atrofia/etiologia , Atrofia/patologia , Pressão Sanguínea/fisiologia , Lesões Encefálicas/diagnóstico por imagem , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Modelos Lineares , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Curva ROC , Estatísticas não Paramétricas
7.
Neuroscience ; 281: 44-53, 2014 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-25255933

RESUMO

Scheduled and restricted access to a palatable snack, i.e. chocolate, elicits a brief and strong anticipatory activation and entrains brain areas related with reward and motivation. This behavioral and neuronal activation persists for more than 7days when this protocol is interrupted, suggesting the participation of a time-keeping system. The process that initiates this anticipation may provide a further understanding of the time-keeping system underlying palatable food entrainment. The aim of this study was to analyze how this entraining protocol starts and to dissect neuronal structures that initiate a chocolate-entrained activation. We assessed the development of anticipation of 5g of chocolate during the first 8days of the entrainment protocol. General activity of control and chocolate-entrained rats was continuously monitored with movement sensors. Moreover, motivation to obtain the chocolate was assessed by measuring approaches and interaction responses toward a wire-mesh box containing chocolate. Neuronal activation was determined with c-Fos in reward-related brain areas. We report a progressive increase in the interaction with a box to obtain chocolate parallel to a progressive neuronal activation. A significant anticipatory activation was observed in the prefrontal cortex on day 3 of entrainment and in the nucleus accumbens on day 5, while the arcuate nucleus and pyriform cortex reached significant activation on day 8. The gradual response observed with this protocol indicates that anticipation of a rewarding food requires repetitive and predictable experiences in order to acquire a temporal estimation. We also confirm that anticipation of palatable food involves diverse brain regions.


Assuntos
Antecipação Psicológica/fisiologia , Núcleo Arqueado do Hipotálamo/metabolismo , Comportamento Animal/fisiologia , Comportamento Alimentar/fisiologia , Núcleo Accumbens/metabolismo , Córtex Piriforme/metabolismo , Córtex Pré-Frontal/metabolismo , Proteínas Proto-Oncogênicas c-fos/metabolismo , Recompensa , Animais , Chocolate , Ritmo Circadiano/fisiologia , Masculino , Ratos , Ratos Wistar , Fatores de Tempo
9.
Oncogene ; 32(41): 4970-80, 2013 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-23222711

RESUMO

Increasing evidence suggests that mesenchymal stem/stromal cells (MSCs) carrying specific mutations are at the origin of some sarcomas. We have reported that the deficiency of p53 alone or in combination with Rb (Rb(-/-) p53(-/-)) in adipose-derived MSCs (ASCs) promotes leiomyosarcoma-like tumors in vivo. Here, we hypothesized that the source of MSCs and/or the cell differentiation stage could determine the phenotype of sarcoma development. To investigate whether there is a link between the source of MSCs and sarcoma phenotype, we generated p53(-/-) and Rb(-/-)p53(-/-) MSCs from bone marrow (BM-MSCs). Both genotypes of BM-MSCs initiated leiomyosarcoma formation similar to p53(-/-) and Rb(-/-)p53(-/-) ASCs. In addition, gene expression profiling revealed transcriptome similarities between p53- or Rb-p53-deficient BM-MSCs/ASCs and muscle-associated sarcomagenesis. These data suggest that the tissue source of MSC does not seem to determine the development of a particular sarcoma phenotype. To analyze whether the differentiation stage defines the sarcoma phenotype, BM-MSCs and ASCs were induced to differentiate toward the osteogenic lineage, and both p53 and Rb were excised using Cre-expressing adenovectors at different stages along osteogenic differentiation. Regardless the level of osteogenic commitment, the inactivation of Rb and p53 in BM-MSC-derived, but not in ASC-derived, osteogenic progenitors gave rise to osteosarcoma-like tumors, which could be serially transplanted. This indicates that the osteogenic differentiation stage of BM-MSCs imposes the phenotype of in vivo sarcoma development, and that BM-MSC-derived osteogenic progenitors rather than undifferentiated BM-MSCs, undifferentiated ASCs or ASC-derived osteogenic progenitors, represent the cell of origin for osteosarcoma development.


Assuntos
Carcinogênese , Diferenciação Celular , Células-Tronco Mesenquimais/patologia , Fenótipo , Proteína do Retinoblastoma/deficiência , Sarcoma/patologia , Proteína Supressora de Tumor p53/deficiência , Tecido Adiposo/patologia , Animais , Células da Medula Óssea/patologia , Ciclo Celular , Deleção de Genes , Regulação Neoplásica da Expressão Gênica , Leiomiossarcoma/genética , Leiomiossarcoma/metabolismo , Leiomiossarcoma/patologia , Camundongos , Osteogênese , Osteossarcoma/genética , Osteossarcoma/metabolismo , Osteossarcoma/patologia , Proteína do Retinoblastoma/genética , Sarcoma/genética , Sarcoma/metabolismo , Proteína Supressora de Tumor p53/genética
10.
J R Coll Physicians Edinb ; 42(3): 199-204, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22953311

RESUMO

BACKGROUND: The high sensitivities and specificities reported for blood biomarkers as a supportive test in the diagnosis of acute stroke do not correspond with their performance for decision-making in emergency situations. METHODS: Seventy-two patients with suspected stroke were recruited: 44 with ischaemic stroke, 17 with haemorrhagic stroke and 11 stroke mimics, as well as a high-risk control group of 79 individuals. Serum neuron-specific enolase (NSE) and S100 calcium binding protein B (S100B) biomarker levels were determined on admission, using immunoassay kits. The sensitivities and specificities of NSE and S100B for distinguishing acute stroke from stroke mimics and high-risk controls were calculated. RESULTS: For cut-off values (NSE ≤ 14 micrograms per litre and S100B ≤130 nanograms per litre) the sensitivity was 53% and 55% respectively. Specificity was 64 for both versus the stroke mimic group. Specificity was higher (79% and 86% respectively) when calculated on the basis of the control group. CONCLUSIONS: This study supports the evidence indicating that serum levels of NSE and S100B do not improve the diagnosis of acute stroke.


Assuntos
Isquemia Encefálica/sangue , Hemorragias Intracranianas/sangue , Fosfopiruvato Hidratase/sangue , Proteínas S100/sangue , Acidente Vascular Cerebral/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Isquemia Encefálica/complicações , Feminino , Humanos , Hemorragias Intracranianas/complicações , Masculino , Pessoa de Meia-Idade , Valores de Referência , Risco , Sensibilidade e Especificidade , Acidente Vascular Cerebral/sangue , Acidente Vascular Cerebral/etiologia
11.
Genet Mol Res ; 11(3): 2352-9, 2012 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-22911605

RESUMO

Although lysosomal storage disorders (LSDs) are considered individually rare, as a group they present a non-negligible frequency. Few studies have been made of populational occurrence of LSDs; they have been conducted predominantly on Caucasian populations. We studied the occurrence of LSDs in Cuba. Data from individuals who had been referred to the Institute of Neurology and Neurosurgery in Havana from hospitals all over the country between January 1990 and December 2005 were analyzed. This institute was the only laboratory to provide enzyme-based diagnostic testing for 19 LSDs in Cuba during this period. Occurrence rates were calculated by dividing the number of postnatal diagnoses by the number of births during the study period. The combined occurrence of LSDs in Cuba was 5.6 per 100,000, lower than that reported in other studies conducted on Caucasian populations. The most frequent individual LSDs were: mucopolysaccharidosis type I (1.01 per 100,000) and, surprisingly, alpha-mannosidosis (0.72 per 100,000) and fucosidosis (0.62 per 100,000). These findings may be related to specific genetic characteristics and admixture of the Cuban population. This is the first comprehensive study of the occurrence of LSDs in Cuba. We conclude that the epidemiology of these diseases can vary regionally, and we stress the need for similar surveys in other Latin American countries.


Assuntos
Fucosidose/epidemiologia , alfa-Manosidose/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Cuba/epidemiologia , Fucosidose/diagnóstico , Humanos , Incidência , Lactente , Pessoa de Meia-Idade , Adulto Jovem , alfa-Manosidose/diagnóstico
12.
Sci Total Environ ; 408(21): 5010-8, 2010 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-20692687

RESUMO

This study focuses on the potential energetic and environmental impacts associated with the production of wheat grain-based bioethanol in Lombardia (Italy), with a "seed-to-wheel" approach (i.e. taking into account the production and use phase). Greenhouse gas emissions (GHGs) were estimated through the CML 2 baseline 2000 methodology counting the CO(2) equivalent emissions, while the energy flow indicator was estimated using the Ecoindicator 95 methodology. The impact of the different phases involved in the production and use of bioethanol have been analysed: the agricultural production of wheat grain, its transformation into bioethanol, the production of gasoline and the use of 5 different blends (from pure gasoline to pure ethanol). The results show that ethanol fuel, used in the form of blends in gasoline, can help reduce energy use and GHGs. In particular, the use of pure ethanol was found to be the best alternative presenting the lowest GHGs (saving about 32% of CO(2)eq emissions in comparison to gasoline) and the minor energy use (63% saving). Differences between low-ethanol blends and gasoline are minimal and dependent on the specific fuel consumption of the vehicle. The sensitivity analysis performed to test the robustness of results through the change of some basic assumptions (specific fuel consumption, N(2)O emissions from agricultural phase, allocation method) shows the sensitivity of GHGs saving to the adopted allocation method.


Assuntos
Poluentes Atmosféricos/análise , Biocombustíveis/análise , Dióxido de Carbono/análise , Etanol/análise , Triticum , Poluição do Ar/estatística & dados numéricos , Monitoramento Ambiental , Efeito Estufa
13.
Water Res ; 44(7): 2211-20, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20097403

RESUMO

The great amount of pollutants released from kraft pulp processes, mainly from cooking and bleaching stages, is one of the most relevant environmental problems in this type of industry. New bleaching sequences are being studied based on the use of oxidative enzymes from fungal cultures. In this study, the bleaching systems consisting of Laccase and different mediators such as 1-hydroxybenzotriazole, violuric acid, syringaldehyde and methyl syringate in the bleaching sequence of Eucalyptus globulus kraft pulp were applied. The main objective of this study is to evaluate the aerobic and anaerobic biodegradability and toxicity to Vibrium fischeri of generated L-stage and total bleaching sequence effluents. The highest levels of aerobic and anaerobic degradation of the generated effluents were achieved for treatments with laccase plus violuric acid, with 80% of aerobic degradation and 68% of anaerobic biodegradation. V. fischeri toxicity was remarkably reduced for all the effluents after aerobic degradation.


Assuntos
Eucalyptus/metabolismo , Resíduos Industriais/análise , Lacase/metabolismo , Eliminação de Resíduos Líquidos/métodos , Aerobiose , Aliivibrio fischeri/efeitos dos fármacos , Anaerobiose , Barbitúricos/metabolismo , Barbitúricos/toxicidade , Benzaldeídos/metabolismo , Benzaldeídos/toxicidade , Biodegradação Ambiental , Biomassa , Ácido Gálico/análogos & derivados , Ácido Gálico/metabolismo , Ácido Gálico/toxicidade , Viabilidade Microbiana/efeitos dos fármacos , Papel , Esgotos/microbiologia , Triazóis/metabolismo , Triazóis/toxicidade
15.
Rev. neurol. (Ed. impr.) ; 49(9): 458-462, 1 nov., 2009. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-77799

RESUMO

Introduction. Mucopolysaccharidoses (MPS), which belong to the family of inborn errors of metabolism, are characterised by their severe clinical manifestations (skeletal, neurological and visceral) and a chronic, progressive course leading to death at early stages of life. Aim. To accomplish an enzymatic diagnosis and characterise MPS within the Cuban population. Subjects and methods. A total of 664 patients with a clinical suspicion of some type of MPS were referred to theInstitute of Neurology and Neurosurgery in Havana in order to determine a possible enzymatic deficiency and to classify the type of MPS involved in each case. Enzymatic determinations of alpha-L-iduronidasa, alpha-N- cetylglucosaminidase, betagalactosidase,arylsulphatase B and beta-glucuronidase were performed in leukocyte homogenate for MPS I, IIIB, IVB, VI andVII, respectively, in patients, parents and controls. Results. In all, 42 cases of MPS were diagnosed: MPS I (62%, n = 26), MPS VI (29%, n = 12), MPS IIIB (7%, n = 3) and MPS IVB (2%, n = 1). No patients with MPS VII were identified. The patients diagnosed with MPS were of both sexes and ages ranged between 4 months and 10 years. The specific activity of the enzymesthat were studied was deficient in patients with respect to parents and controls. The percentage of activity was lower in patients compared to parents. Conclusions. These studies made it possible to evaluate the enzymatic deficiencies and to establish thediagnosis of MPS I, MPS IIIB, MPS IVB, MPS VI and MPS VII in the Cuban population (AU)


Introducción. Las mucopolisacaridosis (MPS), dentro de los errores innatos del metabolismo, se caracterizan por sus manifestaciones clínicas graves (esqueléticas, neurológicas y viscerales), con un curso crónico y progresivo, que conducena la muerte en etapas tempranas de la vida. Objetivo. Diagnosticar enzimáticamente y caracterizar las MPS en la población cubana. Sujetos y métodos. Se remitió un total de 664 pacientes con sospecha clínica de algún tipo de MPS al Instituto de Neurología y Neurocirugía de La Habana para determinar la posible deficiencia enzimática y clasificar el tipo de MPS.Las determinaciones enzimáticas de alfa-L-iduronidasa, N-alfa- etilglucosaminidasa, beta-galactosidasa, arilsulfatasa B y beta-glucuronidasa se realizaron en homogenado de leucocitos para MPS I, IIIB, IVB, VI y VII, respectivamente, en pacientes,padres y controles. Resultados. Se diagnosticaron 42 casos de MPS: MPS I (62%, n = 26), MPS VI (29%, n = 12), MPS IIIB (7%, n = 3) y MPS IVB (2%, n = 1). No se identificó ningún paciente con MPS VII. Los pacientes con MPS diagnosticados fueron de ambos sexos, y el rango de edad osciló de 4 meses a 10 años. La actividad específica de las enzimas estudiadas fue deficitaria en pacientes respecto a padres y controles. El porcentaje de actividad resultó inferior en pacientes respecto apadres. Conclusión. Estos estudios permitieron valorar las deficiencias enzimáticas y establecer el diagnóstico de las MPS I, IIIB, IVB, VI y VII en la población cubana (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Mucopolissacaridoses/diagnóstico , Mucopolissacaridoses/enzimologia , Mucopolissacaridoses/epidemiologia , Mucopolissacaridoses/etiologia , Mucopolissacaridoses/genética , Doenças Genéticas Inatas/complicações , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , alfa-Glucosidases/deficiência
16.
Rev Neurol ; 49(9): 458-62, 2009.
Artigo em Espanhol | MEDLINE | ID: mdl-19859885

RESUMO

INTRODUCTION: Mucopolysaccharidoses (MPS), which belong to the family of inborn errors of metabolism, are characterised by their severe clinical manifestations (skeletal, neurological and visceral) and a chronic, progressive course leading to death at early stages of life. AIM. To accomplish an enzymatic diagnosis and characterise MPS within the Cuban population. SUBJECTS AND METHODS: A total of 664 patients with a clinical suspicion of some type of MPS were referred to the Institute of Neurology and Neurosurgery in Havana in order to determine a possible enzymatic deficiency and to classify the type of MPS involved in each case. Enzymatic determinations of alpha-L-iduronidasa, alpha-N-acetylglucosaminidase, beta-galactosidase, arylsulphatase B and beta-glucuronidase were performed in leukocyte homogenate for MPS I, IIIB, IVB, VI and VII, respectively, in patients, parents and controls. RESULTS. In all, 42 cases of MPS were diagnosed: MPS I (62%, n = 26), MPS VI (29%, n = 12), MPS IIIB (7%, n = 3) and MPS IVB (2%, n = 1). No patients with MPS VII were identified. The patients diagnosed with MPS were of both sexes and ages ranged between 4 months and 10 years. The specific activity of the enzymes that were studied was deficient in patients with respect to parents and controls. The percentage of activity was lower in patients compared to parents. CONCLUSIONS: These studies made it possible to evaluate the enzymatic deficiencies and to establish the diagnosis of MPS I, MPS IIIB, MPS IVB, MPS VI and MPS VII in the Cuban population.


Assuntos
Mucopolissacaridoses/diagnóstico , Mucopolissacaridoses/enzimologia , Criança , Pré-Escolar , Cuba/epidemiologia , Feminino , Humanos , Lactente , Masculino , Mucopolissacaridoses/classificação , Mucopolissacaridoses/epidemiologia
17.
Rev Neurol ; 49(9)Nov. 2009. tab, graf
Artigo em Espanhol | CUMED | ID: cum-43982

RESUMO

Las mucopolisacaridosis (MPS), dentro de los errores innatos del metabolismo, se caracterizan por sus manifestaciones clínicas graves (esqueléticas, neurológicas y viscerales), con un curso crónico y progresivo, que conducen a la muerte en etapas tempranas de la vida. Objetivo. Diagnosticar enzimáticamente y caracterizar las MPS en la población cubana. Sujetos y métodos. Se remitió un total de 664 pacientes con sospecha clínica de algún tipo de MPS al Instituto de Neurología y Neurocirugía de La Habana para determinar la posible deficiencia enzimática y clasificar el tipo de MPS. Las determinaciones enzimáticas de alfa-L-iduronidasa, N-alfa-acetilglucosaminidasa, beta-galactosidasa, arilsulfatasa B y beta-glucuronidasa se realizaron en homogenado de leucocitos para MPS I, IIIB, IVB, VI y VII, respectivamente, en pacientes, padres y controles...(AU)


Assuntos
Humanos , Mucopolissacaridoses/genética , Mucopolissacaridoses/diagnóstico , Mucopolissacaridoses/metabolismo , Enzimas/análise , Doenças por Armazenamento dos Lisossomos , Leucócitos/citologia
18.
Rev Neurol ; 36(7): 625-8, 2003.
Artigo em Espanhol | MEDLINE | ID: mdl-12666041

RESUMO

INTRODUCTION: In order to determine the role lipids play in cerebral infarction (CI), the different aetiological subgroups of this disease should first be separated. AIMS AND METHOD: We conducted case control studies to identify whether there is a relation between blood lipid levels and the occurrence of cerebral infarction caused by atheromatosis (CIA). Our study involved a total of 98 patients with cerebral infarction of an atherothrombotic or lacunar aetiopathogenesis that were included in the CIA category. Two control groups were set up: one consisted of 23 patients with non atheromatous cerebral infarction (NACI), which included other aetiologies (cardioembolic, unusual and unspecified), and the other was made up of 101 healthy subjects who had not had a stroke. RESULTS: The group of patients with CIA presented higher average cholesterol rates than the group of subjects with NACI (p= 0.005). Nevertheless, compared to the control group they had higher average levels of cholesterol (p= 0.003), triglycerides (p= 0.011), VLDL (p= 0.028) and LDL (p= 0.000), as well as a higher average atherogenic index (p= 0.028). Furthermore, the average levels of LDL (p= 0.030) and the atherogenic index (p= 0.008) were seen to be statistically higher in the group of subjects with NACI than in the control group. Lastly, it must be pointed out that no differences in the average HDL levels were found between the three groups studied (p= 0.500). The presence of high blood pressure and a history of ischemic heart disease in patients with CI did not modify the variations that were observed in the lipids. CONCLUSIONS: Patients with CIA have a more atherogenic lipid profile than healthy individuals, while subjects with NACI are situated midway between the two groups


Assuntos
Arteriosclerose/complicações , Infarto Cerebral/sangue , Infarto Cerebral/etiologia , Lipídeos/sangue , Estudos de Casos e Controles , Infarto Cerebral/classificação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
19.
Rev. neurol. (Ed. impr.) ; 36(7): 625-628, 1 abr., 2003. tab
Artigo em Es | IBECS | ID: ibc-27548

RESUMO

Introducción. Para determinar el papel que desempeñan los lípidos en el infarto cerebral (IC) deberían separarse los distintos subgrupos etiológicos de esta enfermedad. Objetivo y métodos. Para identificar si existe relación entre los valores lipídicos en sangre y el infarto cerebral de causa ateromatosa (ICA), realizamos un estudio de casos y controles. Se estudiaron 98 pacientes con infarto cerebral de etiopatogenia aterotrombótica o lacunar, que se incluyeron dentro de la categoría ICA. Se conformaron dos grupos controles: uno de ellos formado por 23 pacientes con infarto cerebral de causa no ateromatosa (ICNA), que incluyó otras etiologías (cardioembólica, inhabituales e indeterminada), y el otro por 101 individuos sanos sin ictus. Resultados. El grupo de pacientes con ICA presenta índices medios de colesterol más elevados que el grupo de individuos con ICNA (p= 0,005); sin embargo, respecto al grupo control sin ictus tiene valores medios más elevados de colesterol (p= 0,003), de triglicéridos (p= 0,011), de VLDL (p= 0,028), de LDL (p= 0,000) y de índice aterogénico (p= 0,028). Por otro lado, el grupo de individuos con ICNA muestra índices medios de las LDL (p= 0,030) y de índice aterogénico (p= 0,008), estadísticamente más elevados que el grupo control. Por último, hay que destacar que no encontramos diferencias en los índices medios de HDL entre los tres grupos estudiados (p= 0,500). La presencia de hipertensión arterial y los antecedentes de cardiopatía isquémica en los pacientes con IC no modificó las variaciones observadas de los lípidos. Conclusiones. Los pacientes con ICA tienen un perfil lipídico más aterogénico que los individuos sanos, en tanto que los pacientes con ICNA mantienen una posición intermedia entre ambos (AU)


Introduction. In order to determine the role lipids play in cerebral infarction (CI), the different aetiological subgroups of this disease should first be separated. Aims and methods. We conducted case-control studies to identify whether there is a relation between blood lipid levels and the occurrence of cerebral infarction caused by atheromatosis (CIA). Our study involved a total of 98 patients with cerebral infarction of an atherothrombotic or lacunar aetiopathogenesis that were included in the CIA category. Two control groups were set up: one consisted of 23 patients with non-atheromatous cerebral infarction (NACI), which included other aetiologies (cardioembolic, unusual and unspecified), and the other was made up of 101 healthy subjects who had not had a stroke. Results. The group of patients with CIA presented higher average cholesterol rates than the group of subjects with NACI (p= 0.005). Nevertheless, compared to the control group they had higher average levels of cholesterol (p= 0.003), triglycerides (p= 0.011), VLDL (p= 0.028) and LDL (p= 0.000), as well as a higher average atherogenic index (p= 0.028). Furthermore, the average levels of LDL (p= 0.030) and the atherogenic index (p= 0.008) were seen to be statistically higher in the group of subjects with NACI than in the control group. Lastly, it must be pointed out that no differences in the average HDL levels were found between the three groups studied (p= 0.500). The presence of high blood pressure and a history of ischemic heart disease in patients with CI did not modify the variations that were observed in the lipids. Conclusions. Patients with CIA have a more atherogenic lipid profile than healthy individuals, while subjects with NACI are situated midway between the two groups (AU)


Assuntos
Pessoa de Meia-Idade , Masculino , Feminino , Humanos , Fatores de Risco , Estudos de Casos e Controles , Arteriosclerose , Infarto Cerebral , Lipídeos
20.
Rev Neurol ; 35(10): 908-12, 2002.
Artigo em Espanhol | MEDLINE | ID: mdl-12436394

RESUMO

INTRODUCTION: Cerebral infarction (CI) increases vascular permeability because of a torrent of molecular events that take place. It frequently leads to oedema, haemorrhage and neuronal death. Free radicals and proteases are also formed, which cause lesions in the blood vessels, and microvascular integrity is lost through degradation of the basal lamina and the extracellular matrix. As a result rupture of the blood brain barrier takes place. AIMS. To compare the electrophoretograms of patients with ischemic cerebrovascular disease (ICVD) with those of controls and to link the alterations in the proteinogram with the ICVD subtypes. PATIENTS AND METHODS: The CSF of 55 controls and 136 patients with ICVD was examined. The total protein (TP) concentration was determined and a polyacrylamide gel electrophoretogram was produced using Coomassie blue stain. Parallel to this, serum was prepared for haptoglobin staining. RESULTS: The TP in patients CSF rose to a significantly higher level than that of controls. Blood brain barrier damage (BBBD) was observed in 28.7% of the patients studied with CI and in 10.3% in transient ischemic attacks (TIA), while 16.2% presented oligoclonal bands. There was a difference between the two sexes: men were found to have higher TP levels, lower percentages of prealbumin 1 and more BBBD than women. CONCLUSIONS: BBBD is more frequent in infarctions than in TIA, and is predominant in men with thrombotic cerebral infarction.


Assuntos
Isquemia Encefálica/líquido cefalorraquidiano , Proteínas do Líquido Cefalorraquidiano/análise , Adulto , Idoso , Eletroforese em Gel de Poliacrilamida , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...