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1.
Nat Genet ; 4(3): 295-9, 1993 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-8358438

RESUMEN

The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23-24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).


Asunto(s)
Cromosomas Humanos Par 12 , Degeneraciones Espinocerebelosas/genética , Mapeo Cromosómico , Cuba , Femenino , Francia , Genes Dominantes , Ligamiento Genético , Marcadores Genéticos , Humanos , Masculino , Linaje
2.
Genes Immun ; 12(3): 169-75, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21293383

RESUMEN

The aim of this study was to investigate the complex association pattern of the extended major histocompatibility complex (xMHC) region with rheumatoid arthritis (RA) susceptibility to identify effects independent of HLA-DRB1. A total of 1804 RA cases and 1474 controls were included. High-resolution HLA-DRB1 typing was performed. Subjects were genotyped for 1546 single-nucleotide polymorphisms (SNPs) using Affymetrix GeneChip 500 K (Santa Clara, CA, USA) as part of the Wellcome Trust Case Control Consortium Study. Statistical analysis was carried out using PLINK. To avoid confounding by RA-associated HLA-DRB1 alleles, we analyzed xMHC SNPs using a data set with pairwise matching of cases and controls on DRB1 genotypes. A total of 594 case-control pairs with identical DRB1 genotypes were identified. After this adjustment, 104 SNPs remained significantly associated with RA (P<0.05), suggesting that additional RA loci independent of HLA-DRB1 can be found in the xMHC region. Of these, four loci showed the strongest associations with RA (P<0.005): ZNF391, the olfactory receptor (OR) gene cluster, C6orf26-RDBP and HLA-DPB1-COL11A2. An additional locus mapping to the BTN (butyrophilin) cluster showed independent association with RA in anti-cyclic citrullinated peptide-positive patients exclusively. We have validated the previously described independent association of the HLA-DPB1-COL11A2 locus with RA. In addition, association with three novel independent RA loci in the xMHC region (ZNF391, OR2H1 and C6orf26-RDBP) has been detected.


Asunto(s)
Artritis Reumatoide/genética , Colágeno Tipo XI/genética , Predisposición Genética a la Enfermedad/genética , Antígenos HLA-DP/genética , Complejo Mayor de Histocompatibilidad/genética , Adulto , Alelos , Estudios de Casos y Controles , Femenino , Genotipo , Cadenas beta de HLA-DP , Humanos , Masculino , Persona de Mediana Edad , Proteínas Nucleares/genética , Polimorfismo de Nucleótido Simple/genética , Receptores Odorantes/genética , Factores de Transcripción , Factores de Elongación Transcripcional/genética , Reino Unido , Dedos de Zinc/genética
3.
Clin Exp Rheumatol ; 28(5): 708-14, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20822710

RESUMEN

OBJECTIVES: To determine the protein expression of TNFAIP3 in synovium and to show the capability of 6q23 intergenic SNPs, associated with rheumatoid arthritis (RA) susceptibility, to influence TNFAIP3 gene transcription. METHODS: Immunohistochemistry for TNFAIP3, NF-kB p65 and phosphorylated NF-kB p65 protein expression was performed in 6 RA knee joint synovium samples compared to 9 osteoarthritis (OA) samples. Luciferase reporter gene assays were used to examine the regulatory ability of RA associated SNP variants on TNFAIP3 promoter activity. Sense and antisense constructs were prepared for rs6920220 alleles, together with each of the 4 SNPs in r2=1 with it (rs6933404, rs2327832, rs6927172 and rs17264332), coupled to the TNFAIP3 promoter. Transient transfections were performed in a human T lymphoblastoid (CEMC7A) cell line. Bioinformatic software was utilised to prioritise SNPs for further investigation. Electrophoretic mobility shift assays (EMSA), using CEMC7A nuclear extracts, were conducted for the rs6927172 SNP alleles. RESULTS: TNFAIP3 protein expression was seen in the synovium samples and differential TNFAIP3 protein expression between RA vs. OA synoviocytes observed. Within RA synoviocytes TNFAIP3 expression is predominately cytoplasmic, whereas in OA its expression is strongly nuclear and cytoplasmic. For 3 of the 5 SNPs investigated (rs6920220, rs6933404, rs6927172) evidence of repressor activity of TNFAIP3 transcription was seen and EMSA data showed evidence of differential transcription factor binding to rs6927172 alleles. CONCLUSIONS: This is the first observation of TNFAIP3 protein expression in RA and OA synovium. In vitro analysis of 6q23 intergenic SNPs supports the possibility of the functional regulation of TNFAIP3.


Asunto(s)
Artritis Reumatoide/genética , Artritis Reumatoide/metabolismo , Osteoartritis/genética , Osteoartritis/metabolismo , Polimorfismo de Nucleótido Simple , Proteínas , Adulto , Anciano , Anciano de 80 o más Años , Artritis Reumatoide/patología , Biomarcadores/metabolismo , Línea Celular Tumoral , Núcleo Celular/química , Núcleo Celular/genética , Femenino , Expresión Génica , Humanos , Técnicas para Inmunoenzimas , Péptidos y Proteínas de Señalización Intracelular , Masculino , Persona de Mediana Edad , Osteoartritis/patología , Proteínas/genética , Proteínas/metabolismo , Membrana Sinovial/metabolismo , Membrana Sinovial/patología , Transcripción Genética , Transfección , Adulto Joven
4.
J Econ Entomol ; 103(3): 938-48, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20568641

RESUMEN

The Russian wheat aphid, Diruaphis noxia (Kurdjumov) (Hemiptera: Aphididae), is globally one of the most devastating pests of bread wheat, Tritium aestivum L.; durum wheat, Triticum turgidum L.; and barley, Hordeum vulgare L. Host plant resistance is the foundation for cereal insect pest management programs, and several sources of D. noxia resistance have been incorporated in cultivars to manage D. noxia damage. The emergence of D. noxia North American biotype 2 (RWA2) in Colorado has made all known Dn genes vulnerable except the Dn7 gene from rye, Secale cereale, and has warranted exploration for sources of resistance to both RWA1 and RWA2. The category of resistance in resistant donor plants may exert selection pressure over the aphid population to form a new virulent population. In the current study, we report tolerance and antibiosis resistance to RWA1 and RWA2 in the barley genotype 'Stoneham'. The rate and degree of expression of resistance in Stoneham against RWA1 and RWA2, although not similar, are greater than the partial resistance in 'Sidney'. Antixenosis resistance to RWA1 or RWA2 was not observed in Sidney or Stoneham. The tolerance identified in Stoneham is encouraging because it may delay D. noxia biotype selection and fits well in a dryland barley cropping system.


Asunto(s)
Áfidos/fisiología , Hordeum , Animales , Variación Genética
5.
Rev Sci Instrum ; 91(1): 013511, 2020 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-32012610

RESUMEN

In multiaperture electrostatic accelerators of negative ion sources, the plasma discharge is sustained by injecting gas in the plasma source, in a dynamic equilibrium with the gas flowing out through the accelerator. In this work, we present a three-dimensional numerical simulation of the gas flow inside the accelerator system of the large negative ion source ELISE at Max-Planck-Institut für Plasmaphysik Garching. ELISE has 640 apertures per electrode and lateral gaps between the electrode support structures that also contribute to the total gas conductance. Assuming molecular regime, we estimated the gas conductance, the gas density profile along the path of the ion beams from upstream of the plasma grid to downstream of the ground grid, and the transverse nonuniformities in the accelerator. The simulation included the most relevant geometrical features, while the results are compared to analytical results.

6.
Rev Sci Instrum ; 91(1): 013509, 2020 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-32012577

RESUMEN

For the ITER fusion experiment, two neutral beam injectors are required for plasma heating and current drive. Each injector supplies a power of about 17 MW, obtained from neutralization of 40 A (46 A), 1 MeV (0.87 MeV) negative deuterium (hydrogen) ions. The full beam is composed of 1280 beamlets, formed in 16 beamlet groups, and strict requirements apply to the beamlet core divergence (<7 mrad). The test facility BATMAN Upgrade uses an ITER-like grid with one beamlet group, which consists of 70 apertures. In a joint campaign performed by IPP and Consorzio RFX to better assess the beam optics, the divergence of a single beamlet was compared to a group of beamlets at BATMAN Upgrade. The single beamlet is measured with a carbon fiber composite tile calorimeter and by beam emission spectroscopy, whereas the divergence of the group of beamlets is measured by beam emission spectroscopy only. When increasing the RF power at low extraction voltages, the divergence of the beamlet and of the group of beamlets is continuously decreasing and no inflection point toward an overperveant beam is found. At the same time, scraping of the extracted ion beam at the second grid (extraction grid) takes place at higher RF power, supported by the absence of the normally seen linear behavior between the measured negative ion density in the plasma close to the extraction system and the measured extracted ion current. Beside its influence on the divergence, beamlet scraping needs to be considered for the determination of the correct perveance and contributes to the measured coextracted electron current.

7.
Ann Rheum Dis ; 67(10): 1451-4, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18199597

RESUMEN

OBJECTIVES: Recent results have shown that the IL23R gene, coding for a subunit of the interleukin-23 receptor, is strongly associated with autoimmunity. The aim of the current study was to investigate, for the first time, the possible involvement of the IL23R gene in genetic susceptibility to ankylosing spondylitis (AS). METHODS: We carried out a case-control association study in which 365 patients with AS and 500 blood bank donors were included. Eight single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected as genetic markers for our association study and were genotyped using a Taqman 5' allelic discrimination assay. RESULTS: Interestingly, we observed association of two of eight IL23R genotyped SNPs. The strongest effect was conferred by the non-synonymous rs11209026 (Arg381Gln) SNP (odds ratio 0.46 95% confidence interval 0.2 to 0.7 p = 0.001). Similarly, the IL23R rs1343151 SNP showed association with AS genetic susceptibility (odds ratio 0.68 95% confidence interval 0.55 to 0.83 p = 0.0002). After a conditional case-control test we observed that the effect of these two genetic variants was independent of linkage disequilibrium. CONCLUSIONS: These results suggest that the IL23R gene seems to be involved in AS genetic predisposition.


Asunto(s)
Polimorfismo de Nucleótido Simple , Receptores de Interleucina/genética , Espondilitis Anquilosante/genética , Estudios de Casos y Controles , Frecuencia de los Genes , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Espondilitis Anquilosante/inmunología
8.
Rheumatology (Oxford) ; 47(2): 138-41, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18156150

RESUMEN

OBJECTIVE: To analyse the relationship between the presence of auto-antibodies [rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP)], HLA-DRB1 alleles and PTPN22 1858 C/T polymorphism and test the value of their combination as susceptibility markers for rheumatoid arthritis (RA). METHODS: Patients with early arthritis were included. At entry in the cohort or during follow-up, 191 patients fulfilled the criteria for RA and 184 individuals suffered from other arthropathies. RF was measured by nephelometry and anti-CCP antibody by enzyme-linked immunosorbent assay. HLA class II alleles were determined by polymerase chain reaction. Samples were genotyped for PTPN22 1858C/T variants using a TaqMan 5'-allele discrimination assay. RESULTS: The presence of shared epitope (SE) alleles was strongly associated with anti-CCP and RF-positive RA [P = 7.05 x 10(-10), odds ratio (OR) 4.57, 95% confidence interval (CI) 2.76-7.57 and P = 1.68 x 10(-6), OR 2.99, 95% CI 1.89-4.74, respectively). The combination of the PTPN22 1858T variant and anti-CCP antibodies gave a high specificity for the disease, and was significantly associated with RA (P = 8.86 x 10(-5), OR 10.05, 95% CI 1.88-53.73). CONCLUSION: The combination of the T variant of the 1858 polymorphism of the PTPN22 gene in combination with the presence of anti-CCP antibodies, preferentially in a SE-positive individual, is associated with the development of RA.


Asunto(s)
Artritis Reumatoide/genética , Autoanticuerpos/genética , Antígenos HLA-DR/genética , Polimorfismo de Nucleótido Simple , Proteína Tirosina Fosfatasa no Receptora Tipo 22/genética , Adulto , Edad de Inicio , Anciano , Artritis Reumatoide/inmunología , Estudios de Cohortes , Femenino , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Variación Genética , Genotipo , Cadenas HLA-DRB1 , Humanos , Persona de Mediana Edad
9.
Clin Exp Rheumatol ; 25(5): 750-3, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-18078626

RESUMEN

OBJECTIVE: To assess the possible association between the PTPN22 gene 1858C-->T polymorphism and the susceptibility to Henoch-Schönlein purpura (HSP) and determine if this polymorphism is implicated in the severity of this systemic vasculitis. PATIENTS AND METHODS: Fifty-seven unselected patients from Northwest Spain with primary systemic vasculitis, classified as HSP according to previously proposed criteria, with a follow-up of at least 2 years and 229 healthy controls, were included in this study. All the individuals were of Spanish Caucasian origin. Genotyping of the PTPN22 gene 1858C-->T polymorphism was performed by real time PCR technology, using TaqMan 5' allelic discrimination assay. RESULTS: No significant differences in allele or genotype distribution frequencies for the PTPN22 gene polymorphism were observed between HSP patients and controls. It was also the case when HSP patients were stratified for the presence of severe gastrointestinal complications (n = 46), nephritis (n= 37) or permanent renal involvement (renal sequelae) (n = 12). CONCLUSION: Our results do not support a potential implication of the PTPN22 gene polymorphism in the susceptibility to and clinical expression of HSP.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Vasculitis por IgA/genética , Polimorfismo de Nucleótido Simple/genética , Proteína Tirosina Fosfatasa no Receptora Tipo 22/genética , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , España , Población Blanca/genética
10.
J Nanosci Nanotechnol ; 7(4-5): 1596-603, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17450931

RESUMEN

Titanium oxide grown by a sol-gel route on single-walled carbon nanotubes was studied by Raman and Electrochemical Impedance techniques and compared with mixtures obtained by mechanical grinding. In spite of the superior dispersion of single-walled carbon nanotubes bundles in sol-gel composites, the lost of the small-diameter carbon nanotubes in the oxidizing sol-gel bath was inferred from their Raman spectra and the lower capacitive current of the voltammograms in 0.1 M H2SO4. We proposed proton electrosorption as the main charge storage mechanism for sol-gel composites, favoured by the hydroxylation and n-type conductivity of the oxide, while electrodes based on mixtures were dominated by double-layer charging, developing some pseudocapacitance with potential cycling due to the reversible oxidation of carbon nanotubes. Comparsion with TiO2/Carbon Blacks composites shows the effective role of single-walled carbon nanotubes as templates to control the mesoporous nature of sol-gel composite electrodes.


Asunto(s)
Electroquímica/métodos , Nanotecnología/métodos , Nanotubos de Carbono/química , Espectrometría Raman/métodos , Titanio/química , Impedancia Eléctrica , Electrodos , Geles , Ensayo de Materiales , Nanopartículas del Metal , Nanotubos , Óxidos/química , Transición de Fase
11.
Biomed Pharmacother ; 60(10): 656-62, 2006 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17055211

RESUMEN

Rheumatoid arthritis (RA) is a clinically heterogeneous condition with a complex aetiology in which environmental and genetic factors are implicated. The contribution of human leukocyte antigen (HLA) genes, particularly the HLA-DRB1 gene, to RA genetic predisposition was the first described, and remains as the best characterised single genetic risk factor contributing to RA. However, it has been estimated that only 30% of the genetic contribution to RA can be attributed to HLA genes and it is suggested that other non-HLA genes may play a relevant role in RA susceptibility. Linkage studies and association studies are the two main strategies used in the investigation of genetic factors contributing to complex genetic traits. In this work we review the progress made in the field of RA genetics, focusing mainly on the contribution of candidate gene association studies to the dissection of RA genetic risk factors.


Asunto(s)
Artritis Reumatoide/genética , Predisposición Genética a la Enfermedad/genética , Antígenos CD/genética , Antígenos de Diferenciación/genética , Artritis Reumatoide/patología , Antígeno CTLA-4 , Factores Quimiotácticos/genética , Heterogeneidad Genética , Antígenos HLA-DR/genética , Cadenas HLA-DRB1 , Humanos , Hidrolasas/genética , Macrófagos , Proteína Tirosina Fosfatasa no Receptora Tipo 22 , Proteínas Tirosina Fosfatasas/genética , Arginina Deiminasa Proteína-Tipo 4 , Desiminasas de la Arginina Proteica
12.
Enferm. univ ; 17(4): 425-436, oct.-dic. 2020. tab
Artículo en Español | LILACS-Express | LILACS, BDENF - enfermagem (Brasil) | ID: biblio-1345995

RESUMEN

Resumen Introducción: En México, las úlceras por presión (UPP) son un indicador de calidad en el Sistema Nacional de Salud, se otorga relevancia a los conocimientos de los profesionales de la salud en cuanto al abordaje integral de las úlceras para el mejoramiento de la seguridad del paciente. Objetivo: Evaluar la efectividad de una intervención educativa como herramienta para mejorar los conocimientos de enfermería en la prevención y tratamiento de las UPP. Método: Estudio pre-experimental basado en una intervención educativa aplicada a un grupo con medición pre y post. La muestra estuvo constituida por 90 licenciados de enfermería que laboran en hospitales públicos de segundo y tercer nivel de atención, ubicados en el puerto de Veracruz. Se diseñaron doce sesiones de 120 minutos cada una para la intervención; en estas se abordaron tópicos de prevención, cuidado y tratamiento de las úlceras. Resultados: La variable prevención, en el indicador adecuado según tus conocimientos, obtuvo un promedio inicial de 74±15 que incrementó en la segunda medición a 91±9. t (p=.003). En la variable tratamiento, el indicador adecuado según tus conocimientos, obtuvo un promedio inicial de 57±16 y en la segunda medición pasó a 76±9. t (p=.002). Conclusión: La aplicación de la intervención educativa permitió mejorar el conocimiento sobre prevención y tratamiento de las UPP, aunque la utilización en la práctica asistencial fue menor.


Abstract Introduction: In Mexico, pressure ulcers are a quality indicator of the National Health System. In order to improve patient security, health professionals need to demonstrate adequate knowledge regarding the handling and addressing of pressure ulcers. Objective: To assess the effectiveness of an educational intervention aimed at improving the knowledge of nursing professionals regarding the prevention and treatment of pressure ulcers. Method: This is a pre-experimental study based on an educational intervention with pre and post measurements. The sample was constituted by 90 graduate nurses working in public hospitals of second and third level located at the port of Veracruz, Mexico. Twelve 120 minutes educational sessions were designed to address the topics of prevention, care, and treatment of pressure ulcers. Results: The variable prevention had a score of 74±15 at pre measurement and 91±9 at post measurement t (p=.003). The variable treatment had an initial score of 57±16, which then increased to 76±9, t (p=.002) after the intervention. Conclusion: The educational intervention improved the knowledge on prevention and treatment of pressure ulcers, without evidence of improving nursing care practice.


Resumo Introdução: No México, as úlceras por pressão (UPP) são um indicador de qualidade no Sistema Nacional de Saúde, sendo relevantes os conhecimentos dos professionais de saúde quanto à abordagem integral das úlceras para o melhoramento da segurança do paciente. Objetivo: Avaliar a efetividade de uma intervenção educativa como ferramenta para melhorar os conhecimentos de enfermagem na prevenção e tratamento das UPP. Método: Estudo pré-experimental baseado em uma intervenção educativa aplicada a um grupo com pré e post medição. A amostra esteve constituída por 90 graduados de enfermagem que laboram em hospitais públicos de segundo e terceiro nível de atenção, localizados no porto de Veracruz. Desenharam-se doze sessões de 120 minutos cada uma para a intervenção; nestas foram abordados tópicos de prevenção, cuidado e tratamento das úlceras. Resultados: A variável prevenção, no indicador adequado segundo com seus conhecimentos, obteve uma média inicial de 74±15 que incrementou na segunda medição para 91±9. t (p=.003). Na variável tratamento, o indicador adequado conforme seus conhecimentos, obteve uma média inicial de 57±16 e na segunda medição passou a 76±9. t (p=.002). Conclusão: A aplicação da intervenção educativa possibilitou melhorar o conhecimento sobre a prevenção e o tratamento das UPP, embora a utilização na prática assistencial tenha sido menor.

13.
Am J Clin Nutr ; 40(3): 591-600, 1984 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-6433694

RESUMEN

To assess the advisability of using lactose-containing formulas in the rehabilitation of severely malnourished children, indices of clinical recovery, growth and restoration of body proteins and gastrointestinal function were measured longitudinally during the initial 45 days of hospitalization in 20 male, preschool children with kwashiorkor and marasmic-kwashiorkor. All patients received a diet based on cows' milk, but half were allocated to a formula pretreated with beta-galactosidase to hydrolyze the lactose, while the others received the untreated, intact milk. The groups were identical with respect to clinical criteria on admission. For the final 37 days of the protocol, the subjects received 4 g of protein and 150 kcal of energy per kg per day. More diarrhea was experienced by the intact lactose group during early hospitalization. Overall, recovery was satisfactory in both cohorts, and there were no differences in rates of growth, body protein repletion, restoration of energy reserves nor intestinal functions. In conclusion, the routine reduction of lactose content from a milk-based diet for severe protein-energy malnutrition offers no advantages.


Asunto(s)
Carbohidratos de la Dieta/administración & dosificación , Alimentos Infantiles , Kwashiorkor/dietoterapia , Lactosa/administración & dosificación , Desnutrición Proteico-Calórica/dietoterapia , Animales , Estatura , Peso Corporal , Bovinos , Preescolar , Ingestión de Energía , Humanos , Lactante , Intolerancia a la Lactosa/prevención & control , Masculino , Leche , Distribución Aleatoria , Factores de Tiempo
14.
Am J Clin Nutr ; 40(3): 601-10, 1984 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-6433695

RESUMEN

Absorption of dietary energy, nitrogen, carbohydrates and calcium, and retention of nitrogen and calcium were studied in 20 children with protein-energy malnutrition of the edematous type, using metabolic balance techniques and breath H2 analysis, to assess the advisability of using lactose-containing formulas in the rehabilitation of severely malnourished children. Ten patients received for 45 days a diet formula based on cows' milk (intact milk) and 10 similar children received the same formula pretreated with beta-galactosidase to hydrolyze the lactose (hydrolyzed milk). Dietary intakes were gradually increased to reach, on the 8th day, 4 g of protein and 150 kcal/kg. There were no differences between groups with respect to absorption or retention of the index nutrients. Postprandial carbohydrate malabsorption was occasionally observed in two patients with servings of the intact milk formula, and in one with the hydrolyzed milk diet. When the nutritional quality of a diet is assessed, the amount of nutrients that are absorbed and utilized are more important than the small, incompletely absorbed fractions that do not have significant metabolic or clinical implications. Therefore, the use of milk as the protein source for recovery diets is not contraindicated in the routine treatment of PEM.


Asunto(s)
Carbohidratos de la Dieta/administración & dosificación , Alimentos Infantiles , Absorción Intestinal , Kwashiorkor/dietoterapia , Lactosa/administración & dosificación , Desnutrición Proteico-Calórica/dietoterapia , Animales , Calcio de la Dieta/metabolismo , Bovinos , Preescolar , Carbohidratos de la Dieta/metabolismo , Proteínas en la Dieta/metabolismo , Ingestión de Energía , Humanos , Lactante , Lactosa/metabolismo , Intolerancia a la Lactosa/prevención & control , Masculino , Leche , Nitrógeno/metabolismo
15.
J Neurol Sci ; 93(1): 37-50, 1989 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-2809629

RESUMEN

A form of dominantly inherited olivopontocerebellar atrophy (OPCA) occurs commonly in persons of Spanish ancestry in northeastern Cuba. Its prevalence in the Province of Holguin is 41 per 100,000, a figure much higher than that found in western Cuba or in other parts of the world. The high prevalence is probably the result of a founder effect, but might be due to an interaction between a mutant gene and an unidentified environmental neurotoxin. We describe the clinical features of this disorder, and the neuropathological abnormalities in 7 autopsied patients. In addition, we report biochemical findings in plasma, cerebrospinal fluid (CSF) and urine obtained from 10 living OPCA patients. Quantitation of amino acids in fasting plasma showed a number of differences between the Cuban patients and healthy Canadian controls, but these are likely to have been caused by dietary differences. Amino acid concentrations in the CSF of the Cuban OPCA patients were similar to those of healthy Cuban controls, except for a decreased concentration of ethanolamine. Mean concentrations of dopamine metabolites were significantly low in the CSF of the OPCA patients, corresponding to neuronal depletion observed in the substantia nigra of autopsied cases. Examination of the patients' urines provided no evidence that either cyanide or 3-acetylpyridine is involved in causing this form of OPCA.


Asunto(s)
Encéfalo/patología , Enfermedades Genéticas Congénitas/epidemiología , Degeneraciones Espinocerebelosas/epidemiología , Adulto , Aminoácidos/sangre , Aminoácidos/líquido cefalorraquídeo , Encéfalo/metabolismo , Cuba , Femenino , Enfermedades Genéticas Congénitas/patología , Humanos , Masculino , Persona de Mediana Edad , Linaje , Degeneraciones Espinocerebelosas/genética , Degeneraciones Espinocerebelosas/patología
16.
Mutat Res ; 391(3): 127-34, 1997 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-9268037

RESUMEN

Some kinetic parameters of clastogenic activity of cyclophosphamide were inferred by means of the comparison of its kinetics of micronucleated polychromatic erythrocytes (MN-PCE) formation with the kinetics induced by radiation. The same reasoning was also applied to the kinetics obtained by treatment with mitomycin C (MMC), arabinocyl cytosine (Ara-C) and 6-mercaptopurine (6-MOP), based on previously reported data from the literature. The results indicate that the latency period (LP) and half-lives (HL) vary from one mutagen to another. For MMC, they are very similar to radiation indicating a rapid distribution and reaction. CP presents very long LP and HL which agree with the requirement of mutagen activation. Ara-C showed a very short LP which suggests a rapid activation and fast induction of damage in DNA. 6-MOP presented a very long LP which agreed with the requirement of its incorporation into DNA to cause micronucleus (MN). From the data obtained in the present work, it can be concluded that the comparison of the kinetics of MN-PCE formation induced by chemical agents with that obtained by the exposure to an acute dose of radiation permits one to estimate some parameters of the kinetics of clastogenic activity of chemical agents, like the LP and the HL. This seems to be valid for agents that act through the induction of DNA lesions; in the case of agents whose clastogenic activity is through other mechanisms, such as the inhibition or alteration of the process of duplication of the DNA, the kinetic parameters are not equivalent to the LP and HL; however, they could provide information on their possible mechanism of action.


Asunto(s)
Eritrocitos/efectos de los fármacos , Eritrocitos/efectos de la radiación , Micronúcleos con Defecto Cromosómico/efectos de los fármacos , Micronúcleos con Defecto Cromosómico/efectos de la radiación , Pruebas de Micronúcleos/métodos , Animales , Ciclofosfamida/farmacocinética , Ciclofosfamida/toxicidad , Citarabina/farmacocinética , Citarabina/toxicidad , Relación Dosis-Respuesta en la Radiación , Eritrocitos/fisiología , Masculino , Mercaptopurina/toxicidad , Ratones , Ratones Endogámicos BALB C , Micronúcleos con Defecto Cromosómico/genética , Mitomicina/farmacocinética , Mitomicina/toxicidad , Mutágenos/toxicidad , Inhibidores de la Síntesis del Ácido Nucleico/farmacocinética , Inhibidores de la Síntesis del Ácido Nucleico/toxicidad
17.
Arq Gastroenterol ; 26(3): 50-4, 1989.
Artículo en Inglés | MEDLINE | ID: mdl-2627162

RESUMEN

Nine male healthy adults volunteers of average body weight 69.51 +/- 11.59 kg were submitted to 3 experimental diets: I complete diet, containing rice and beans (RB): II--low protein, low calcium: III--vegetable diet containing RB. The diets were consumed "ad libitum". The total energy intake in each dietary period were: 46.04 +/- 9.18; 37.57 +/- 9.04; 55.27 +/- 7.18 respectively. The average free choice for the proportion of rice/beans was 1.22 and 1.35 in the periods I and III. The protein balance was positive only for the diet I and the balance of calcium was positive in diets I and II. Zinc didn't attained positive balance neither in diet I. It is suggested that the presence of beans in diets I and III plays an important role in decreasing the bio-utilization of the studied nutrients.


Asunto(s)
Calcio/farmacocinética , Proteínas en la Dieta/farmacocinética , Ingestión de Energía , Fabaceae , Oryza , Plantas Medicinales , Zinc/farmacocinética , Adulto , Disponibilidad Biológica , Humanos , Masculino , Persona de Mediana Edad
18.
Rev Invest Clin ; 45(4): 339-43, 1993.
Artículo en Español | MEDLINE | ID: mdl-8235135

RESUMEN

Aminoglycosides (AG) are excellent antibiotics against gram-negative bacilli infections, but their use implies potential ototoxicity and nephrotoxicity if an excessive dosage is prescribed. In this study we evaluated 105 episodes of AG treatment in 104 patients hospitalized in a specialty hospital in the city of Leon, Mexico. In each case a basal serum creatinine, weight and age were recorded. A single serum AG assay per episode of treatment was done. Either amikacin or gentamicin were one the AG prescribed. Prior to AG administration only 54 treatment episodes (51%) had a before treatment creatinine assay. The initial creatinine clearance showed normal values in 43% (23/54 episodes) and it was altered (below 80 mL/min) in 31 (57%) of the episodes. In the 31 cases with an altered renal function only 15 (48%) underwent dosage adjustment. In summary the AG were prescribed in excess in 54% (29/54) of the episodes. The serum AG levels within toxic range were observed in 11 episodes. These results suggest that in our hospital AG treatment is not adequately done and monitored.


Asunto(s)
Amicacina/efectos adversos , Monitoreo de Drogas , Gentamicinas/efectos adversos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Amicacina/administración & dosificación , Creatinina/sangre , Sobredosis de Droga , Femenino , Gentamicinas/administración & dosificación , Hospitales Especializados , Humanos , Estudios Longitudinales , Masculino , México , Persona de Mediana Edad , Estudios Prospectivos
19.
Enferm. univ ; 12(1): 28-35, ene.-mar. 2015.
Artículo en Español | LILACS-Express | LILACS, BDENF - enfermagem (Brasil) | ID: lil-749637

RESUMEN

Este trabajo deriva de una investigación cualitativa etnográfica cuyo objeto de estudio es la educación para la salud de personas pertenecientes a la cultura menonita, así como la descripción de sus percepciones y creencias acerca del proceso salud-enfermedad. A partir del conocimiento que se obtuvo en el análisis de los datos surge la necesidad de indagar la relación entre los usuarios menonitas y el personal de enfermería en los centros de salud de la comunidad mestiza en Cuauhtémoc, Chihuahua, México. Objetivo: Develar la importancia de enfermería como agente educador para la salud cuando existe un acercamiento a culturas diferentes a la propia, se considera la interacción enfermera-paciente-familia como núcleo central conforme al modelo enfermero de Joan Riehl Sisca. Método: Estudio con enfoque cualitativo fenomenológico. La recolección de datos fue a través de entrevistas a profundidad a enfermeras y el análisis de los diarios de campo de estudiantes de enfermería en su práctica clínica en el hospital de ginecoobstetricia de la ciudad, generándose categorías que permitieron describir sus percepciones cuando deben atender a pacientes de cultura diferente a la propia. Los criterios de validación se hicieron a través de la triangulación de los datos obtenidos de confiabilidad y confirmabilidad. Resultados: Se presentan los datos analizados a partir de dos categorías: 1) desconocimiento de la cultura menonita, 2) deseo de brindar cuidado holístico. Conclusiones: Los estudiantes y personal de enfermería refieren que cuando logran la comprensión de la cosmovisión menonita obtienen un alto grado de satisfacción por el cuidado que brindan y descubren un sentido de autoeficacia elevado.


This work derives from an ethnographic qualitative research; and its object of study is the health education to persons belonging to the Mennonite culture, as well as these persons' beliefs and perceptions on the health-illness process. From the data analysis, a need surges to explore the relationship between the Mennonite users and the nursing staff at the health centers of the Coloured community in Cuauhtemoc, Chihuahua, México. Objective: To show the importance of nursing as a health education agent for different cultures. The interaction nurse-patient-family as proposed from the Joan Riehl Sisca nursing model is considered as the central core. Method: Study with a phenomenological qualitative focus. Data were obtained by means of in-depth interviews to nurses and the analysis of the field diaries of nursing students in their clinical practice at the gynecology and obstetrics city hospital. The categories found allowed a description of the participants' perceptions about treating patients from a different culture. The validation criteria were conformed by triangulation of the reliability and confirmability data. Results: The analyzed data are shown through two categories: 1) lack of knowledge of the Mennonite culture, and 2) desire to offer holistic care. Conclusions: Students and nursing staff referred that when they achieve an understanding of the Mennonite cosmos-vision, they get a high degree of satisfaction for the offered care, and they discover a sense of high self-efficacy.


Este trabalho procede de uma pesquisa qualitativa etnográfica cujo objeto de estudo é a educação para a saúde de pessoas pertencentes à cultura menonita, bem como a descrição das suas percepções e crenças relativas ao processo de saúde-doença. A partir do conhecimento que se obteve na análise de dados, aparece a necessidade de procurar a relação entre os usuários menonitas e o pessoal de enfermagem nos centros de saúde da comunidade mestiça em Cuauhtémoc, Chihuahua, México. Objetivo: Revelar a importância da enfermagem como agente educador para a saúde quando existe uma aproximação de culturas diferentes à própria, considera-se a interação enfermeira-paciente-família como núcleo central conforme ao modelo da enfermagem de Joan Riehl Sisca. Método: Estudo com abordagem qualitativa fenomenológica, a coleta de dados se deu através de entrevistas em profundidade com enfermeiras e com a análise dos diários de campo de estudantes de enfermagem na sua prática clínica no hospital de gineco obstetrícia da cidade, produziram-se categorias que permitiram descobrir as percepções sobre quando devem atender aos pacientes de cultura diferente à própria. Os critérios de validação realizaram-se através da triangulação dos dados obtidos de confiabilidade e confirmação. Resultados: Presentam-se os dados analisados a partir de duas categorias: 1) desconhecimento da cultura menonita, 2) desejo de oferecer cuidado holístico. Conclusões: Os estudantes e o pessoal de enfermagem atribuem que no caso de atingir a compreensão da cosmovisão menonita, eles obtêm um alto grau de satisfação pelo cuidado que oferecem e descobrem um sentido de auto-eficácia elevado.


Asunto(s)
Humanos , Masculino , Femenino
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