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1.
J Environ Manage ; 362: 121306, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38833918

RESUMO

Integrated circuits (ICs) and central processing units (CPUs), essential components of electrical and electronic equipment (EEE), are complex composite materials rich in recyclable high-value strategic and critical metals, with many in concentrations higher than in their natural ores. With gold the most valuable metal present, increase in demand for gold for EEE and its limited availability have led to a steep rise in the market price of gold, making gold recycling a high priority to meet demand. To overcome the limitations associated with conventional technologies for recycling e-waste, the use of greener technologies (ionic liquids (ILs) as leaching agents), offers greater potential for the recovery of gold from e-waste components. While previous studies have demonstrated the efficiency and feasibility of using ILs for gold recovery, these works predominantly concentrate on the extraction stage and often utilise simulated solutions, lacking the implementation of a complete process validated with real samples to effectively assess its overall effectiveness. In this work, a simulated Model Test System was used to determine the optimal leaching and extraction conditions before application to real samples. With copper being the most abundant metal in the e-waste fractions, to access the gold necessitated a two-stage pre-treatment (nitric acid leaching followed by aqua regia leaching) to ensure complete removal of copper and deliver a gold-enriched leach liquor. Gold extraction from the leach liquor was achieved by liquid-liquid extraction using Cyphos 101 (0.1 M in toluene with an O:A = 1:1, 20 °C, 150 rpm, and 15 min) and as a second process by sorption extraction with loaded resins (Amberlite XAD-7 with 300 mg of Cyphos 101/g of resins at 20 °C, 150 rpm and 3 h). In both processes, complete stripping and desorption of gold was achieved (0.5 M thiourea in 0.5 M HCl) and gold recovered, as nanoparticles of purity ≥95%, via a reduction step using a sodium borohydride solution (0.1 M NaBH4 in 0.1 M NaOH). These two hydrometallurgical processes developed can achieve overall efficiencies of ≥95% for gold recovery from real e-waste components, permit the reuse of the IL and resins up to five consecutive times, and offer a promising approach for recovery from any e-waste stream rich in gold.


Assuntos
Ouro , Líquidos Iônicos , Reciclagem , Líquidos Iônicos/química , Ouro/química , Reciclagem/métodos , Resíduo Eletrônico
3.
rev.cuid. (Bucaramanga. 2010) ; 14(2): 1-15, 20230428.
Artigo em Espanhol | LILACS, BDENF - Enfermagem, COLNAL | ID: biblio-1443058

RESUMO

Introducción: El autocuidado es uno de los conceptos a fortalecer en futuros profesionales de enfermería desde la formación centrada en el aprendiente. Objetivo: Estimar la validación de una estrategia educativa a través del juicio de expertos y de la población objetivo. Materiales y Métodos: La investigación se desarrolla bajo un enfoque mixto cual-cuant en paralelo convergente secuencial. En la fase cualitativa 6 estudiantes, un análisis lexicometrico de similitud y fenomelogico hermeneutico. La fase cuantitativa con juicio de 10 expertos, se calculo IVC y media artimetica para pertinencia, coherencia, relevancia y claridad, para concordancia se utilizó la prueba de Brennan and Prediger. Resultados: Se identifica las relaciones entre la inducción a la acción y la introspección de conductas de autocuidado. El IVC general fue 0.96, una media de 3.7±0.4. En concordancia el item "objetivos especificos" fue el que presento valor p=0.054, coef=0.37, en claridad presenta los menores puntajes en la media (3.4±0.8) e IVC (0.8), los restantes items presentan valor p>0.05 Discusión: En la validación por parte de los jueces de la intervención educativa, se obtuvo un índice de validez de contenido con valores superiores a lo deseable, lo cual es similar a lo reportado por otros autores donde se obtuvo una valoración de la información como suficiente y necesaria. Conclusion: Se considera que la intervención educativa cuenta con los criterios de validación de contenido tanto por jueces expertos como de la población objetivo, manifestado por la reflexión hacia la transformación de algunos comportamientos de autocuidado en los estudiantes de enfermería.


Introduction: Self-care is one of the concepts to be strengthened in future nurses from a learner-centered education perspective. Objective: To estimate the validation of an educational strategy through both experts and the target population judgment. Materials and Methods: The research followed a convergent parallel sequential mixed qualitative-quantitative approach. In the qualitative phase, analysis of lexical similarities and hermeneutic phenomenological analysis was carried out with six students. The quantitative phase included opinions from ten experts; CVI and arithmetic mean were calculated to assess pertinence, coherence, relevance, and clarity. The Brennan-Prediger coefficient was used for measuring agreement. Results: Relationships between action inducement and introspection of self-care behaviors are identified. Overall CVI was 0.96, with a mean of 3.7±0.4. Regarding agreement, the item 'specific objectives' was the one that showed a p-value of 0.054 and a coefficient of 0.37. Concerning clarity, the lowest mean (3.4±0.8) and CVI (0.8) values were observed. The remaining items have a p-value >0.05. Discussion: In validating the educational intervention by the experts, a content validity index was obtained with values higher than desirable. This result is similar to that reported by other authors whose information was rated as sufficient and necessary. Conclusion: The educational intervention has the criteria for content validity according to both experts and the target population, as manifested by the reflection on the transformation of some self-care behaviors in nursing students.


ntrodução: O autocuidado é um dos conceitos a reforçar nos futuros profissionais de enfermagem a partir da formação centrada no aprendente. Objetivo: Estimar a validação de uma estratégia educacional por meio do julgamento de especialistas e da população-alvo. Materiais e Métodos: A pesquisa é realizada sob uma abordagem qualitativa e quantitativa, mista em paralelo convergente sequencial. Na fase qualitativa 6 alunos, uma análise lexicométrica de similaridade e fenomenológica hermenêutica. A fase quantitativa com julgamento de 10 especialistas, IVC e média aritmética foram calculados para relevância, coerência, relevância e clareza, para concordância foi utilizado o teste de Brennan e Prediger. Resultados: Identificam-se as relações entre a indução à ação e a introspeção dos comportamentos de autocuidado. O IVC geral foi de 0,96, com média de 3,7 ±0,4. Nesse sentido, o item " objetivos específicos " foi o que apresentou valor p=0,054, coef =0,37, claramente apresenta as menores pontuações na média (3,4 ±0,8) e IVC (0,8), os demais itens apresentam valor p>0,05 Discussão: Na validação pelos juízes da intervenção educacional, obteve-se um índice de validade de conteúdo com valores acima do desejável, o que é semelhante ao relatado por outros autores onde foi obtida uma avaliação da informação como suficiente e necessária. Conclusão: Considera-se que a intervenção educativa tem os critérios de validação de conteúdo tanto por juízes especialistas como pela população-alvo, manifestada pela reflexão para a transformação de alguns comportamentos de autocuidado em estudantes de enfermagem.


Assuntos
Autocuidado , Estudantes de Enfermagem , Educação em Saúde , Estudo de Validação
4.
Environ Sci Technol ; 57(6): 2611-2624, 2023 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-36735866

RESUMO

Indium has emerged as a strategic metal for high-tech and renewable industries, being catalogued as a critical material to foster a greener future. Nevertheless, its global sustainability is not well addressed. Here, using dynamic substance flow analysis, we study the indium industry evolution between 2010 and 2020 and estimate its future demand in the medium and long term toward 2050 to identify potential paths and mechanisms to decrease indium losses and to identify the key stages in its life cycle. As electronics and photovoltaic industries will play a crucial role in the indium demand, we assess their indium demand employing three cumulative photovoltaic capacity scenarios (8.5, 14, and 60 TW by 2050) with different dominant photovoltaic sub-technologies. Results show that liquid-crystal displays and photovoltaic panels will drive indium future demand, increasing its current demand by 2.2-4.2, 2.6-7.0, and 6.8-38.3 times for the 8.5, 14, and 60 TW scenarios, respectively, threatening with shortages that could occur as early as the next decade. Therefore, measures to reduce losses in primary production, innovations and improvements in electronics and solar panels, and indium recycling with an effective circular economy strategy could promote and secure the future sustainability of indium.


Assuntos
Índio , Tecnologia , Índio/química , Energia Renovável , Reciclagem , Indústrias
5.
Rev. cuba. enferm ; 38(1)mar. 2022.
Artigo em Espanhol | LILACS, BDENF - Enfermagem, CUMED | ID: biblio-1408313

RESUMO

ntroducción: El control apropiado del dolor es un desafío crucial y necesario de abordar en el campo quirúrgico, al producir un gran impacto en la recuperación del paciente. Objetivo: Evaluar el efecto de una intervención de enfermería aplicada en el periodo perioperatorio para el control del dolor del paciente adulto en el posoperatorio inmediato. Métodos: Estudio cuantitativo, cuasi experimental, con grupo experimental y control de adultos intervenidos en el quirófano de una institución de salud en Bucaramanga - Colombia en el primer semestre de 2017, con un universo de 3240 pacientes y muestra calculada de 120. La intervención constó de tres fases, enmarcada en la teoría de síntomas desagradables. Para evaluar el dolor se utilizó la Escala Visual Análoga. Se realizó análisis descriptivo, bivariado y múltiple, se calcularon Betas con modelos de regresión lineal con los puntajes de la escala de dolor a los 10-20 y 30 minutos, 1- 1,5 y 2 horas. Resultados: Los grupos presentaron características similares, en el grupo experimental disminuyeron los puntajes en la escala de dolor a los 10 minutos en -0,98 (IC 95 por ciento: -2,0; 0,02), a la hora de -0,77(IC 95 por ciento: -1,60; 0,05), a las 1,5 horas de -0,71(IC 95 por ciento: -1,13; -0,12) y las 2 horas de -0,60(IC 95 por ciento: -1,09; -0,10). Conclusiones: La intervención de enfermería en perioperatorio, más allá de la administración de analgésicos, es fundamental para modificar las respuestas, como lo refiere la teoría de Swanson, se mejora o controlan los síntomas desagradables y sus efectos negativos, en este caso el dolor posoperatorio(AU)


Introduction: Appropriate pain control is a crucial and necessary challenge to address in the surgical field, since it would produce a great impact patient recovery. Objective: To assess the effect of a nursing intervention applied during the perioperative period for pain control in the adult patient in the immediate postoperative period. Methods: Quantitative and quasiexperimental study carried out with two groups, an experimental and a control group, of adults operated on in the surgical room of a health institution in Bucaramanga, Colombia, in the first semester of 2017. The universe consisted of 3240 patients, while the calculated sample was 120. The intervention consisted in three phases, framed within the theory of unpleasant symptoms. The visual analog scale was used to assess pain. Descriptive, bivariate and multiple analyses were performed. Betas were calculated with linear regression models and using the scores of the pain scale at ten to twenty and thirty minutes; as well as at one to one and half hours, and two hours. Results: The groups presented similar characteristics: in the experimental group, the scores of the pain scale decreased at ten minutes by 0.98 (95 percent CI: -2.0; 0.02); at one hour, by 0.77 (95 percent CI: -1.60; 0.05; at one and a half hours, by 0.71 (95 percent CI: -1.13; -0.12); and at two hours, by 0.60 (95 percent CI: -1.09; -0.10). Conclusions: The nursing intervention in the perioperative period, beyond the administration of analgesics, is fundamental to modify responses, as referred by Swanson's theory, unpleasant symptoms and their negative effects are improved or controlled; in this case, postoperative pain(AU)


Assuntos
Humanos , Adulto , Dor Pós-Operatória , Enfermagem Perioperatória/métodos , Terminologia Padronizada em Enfermagem , Escala Visual Analógica , Analgésicos/uso terapêutico
6.
Educ. med. super ; 35(3)2021. ilus
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1506167

RESUMO

Introducción: La metaevaluación como instrumento en los procesos de calidad ha favorecido la toma de decisiones de las Instituciones de Educación Superior en cuanto a la mejora del proceso enseñanza-aprendizaje, al permitir un seguimiento de los discursos de la academia y su puesta en práctica por los docentes, por lo que se han encontrado nuevas interpretaciones del fenómeno evaluativo. Objetivo: Describir las percepciones de los profesores sobre la evaluación del programa de enfermería de la Universidad de Santander en el período académico B-2018 en la formación de la práctica clínica. Métodos: Investigación descriptiva, exploratoria y de tipo cualitativa. La población estuvo conformada por docentes de asignaturas teórico-prácticas del programa de enfermería de la Universidad de Santander. El muestreo fue intencionado-selección por criterios. Los datos recolectados se procesaron a través del software IRAMUTEQ. Resultados: El soporte del análisis lexical definió dos ejes temáticos, formados por cuatro clases semánticas. Estos fueron: Eje temático No. 1: Proceso cuantitativo a superar que contiene las clases 1 y 2 (Evaluación como calificación y Proceso de doble vía); y Eje temático No. 2: Pautas de valoración que contiene las clases 3 y 4 (Progreso centrado en el estudiante y Valoración final del hacer). Conclusiones: La percepción de los docentes frente a la evaluación de la práctica clínica de enfermería es considerada en términos de medición y calificación(AU)


Introduction: Meta-evaluation, as an instrument in quality processes, has permitted to support decision-making inhigher education institutions, with respect to improvement of the teaching-learning process, by allowing to followup academic discourses and their implementation by professors; in this scenario, new interpretations of the evaluation phenomenon have been found. Objective: To describe professors' perceptions about the evaluation of the Nursing program at University of Santander in the academic period B-2018 concerning clinical practice formation. Methods: Descriptive, exploratory and qualitative research. The population was made up of professors of theoretical-practical subjects of the Nursing program ofUniversity of Santander. The sampling was intentional (selection by criteria). The data collected was processed using the IRAMUTEQ software. Results: The lexical analysis support resulted in two thematic axes, made up of four semantic classes:thematic axis # 1 (quantitative process to be passed), which contains the classes 1 and 2 (evaluation as qualification and feedback process); and thematic axis # 2 (evaluation guidelines), which contain the classes 3 and 4 (student-centered progress and final evaluation of performance). Conclusions: Professors' perception about the evaluation of clinical nursing practice is considered in terms of measurement and qualification (AU)


Assuntos
Humanos , Estágio Clínico/métodos , Educação Profissionalizante/métodos , Estudantes de Enfermagem
7.
Rev. cuba. enferm ; 36(1): e3155, tab
Artigo em Espanhol | CUMED, LILACS, BDENF - Enfermagem | ID: biblio-1280234

RESUMO

Introducción: En los profesionales de la salud existe la necesidad de liderar la seguridad del paciente como política pública, la cual es un criterio de calidad al evaluar la cultura de seguridad en las instituciones de salud y de cada servicio que ofrece. Objetivo: Valorar las dimensiones de la cultura de seguridad del paciente. Métodos: Estudio de tipo analítico y transversal en área de quirófanos de la clínica Materno Infantil San Luis, desde abril a julio del 2018. Se captaron las respuestas de la cultura de seguridad en 45 profesionales de salud a través del cuestionario Hospital Survey on Patient Safety, versión en español. El análisis estadístico presenta proporciones, medidas de tendencia central, dispersión y rango intercuartílico. Para identificar las diferencias entre los grupos se utilizaron las pruebas: Exacta de Fisher, Anova y Kruskal Wallis. Los análisis se realizaron en el programa STATA 12 (StataCorp College Station, TX, EE. UU.). Resultados: Existen diferencias estadísticamente significativas entre los grupos de profesionales en cuanto al sexo (p = 0,002), formación académica (p = 0,042) y trabajar en otra institución (p = 0,022). El 50 por ciento de los profesionales encuestados calificaron la seguridad del paciente en su servicio con una nota entre 8 y 9. Conclusiones: En la valoración de la cultura de seguridad se logró identificar como fortaleza las dimensiones de aprendizaje organizacional/mejora continua, trabajo en equipo dentro de la unidad/servicio y apoyo de la gerencia del hospital en la seguridad del paciente(AU)


Introduction: There is a need for health professionals to lead patient safety as a public policy, which is a quality criterion to evaluate the safety culture in health institutions and in each service they offer. Objective: To assess the dimensions of culture about patient safety. Methods: Analytical and cross-sectional study carried in the operating room area of ​​San Luis Maternal and Child Clinic, from April to July 2018. The responses about safety culture were taken from 45 health professionals through the Hospital Survey on Patient Safety questionnaire, Spanish version. The statistical analysis presents proportions, measures of central tendency, dispersion and interquartile range. To identify the differences between the groups, the following tests were used: exact Fisher's test, Anova test, and Kruskal Wallis test. The analyzes were performed in the STATA 12 program (StataCorp College Station, TX, USA). Results: There are statistically significant differences between the groups of professionals regarding sex (p=0.002), academic training (p=0.042) and work in another institution (p=0.022). 50 percent of the respondents rated patient safety in their service with a score between 8 and 9. Conclusions: In assessing safety culture, some dimensions were identified as strengths, such as organizational learning/continuous improvement, teamwork within the unit/service, and support of the hospital management to patient safety(AU)


Assuntos
Humanos , Salas Cirúrgicas , Segurança do Paciente , Estudos Transversais , Centros de Saúde Materno-Infantil
8.
Polymers (Basel) ; 8(11)2016 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-30974661

RESUMO

Nanocomposites of layered silica nanoparticles (LSN) obtained by the sol⁻gel method, and commercial montmorillonite clay Cloisite®20A with polypropylene (PP) and Cloisite®30B with polyamide-6 (PA6) were prepared by melt blending in order to study their effects on barrier, mechanical properties, and thermal stability. Transmission electron microscopy (TEM) showed that all of the nanocomposites present agglomerated nanoparticles with some degree of individual particles. In barrier properties, LSN dramatically increased the oxygen and water vapor permeability of PP at low loadings (<5 wt %) due to the percolation effect. However, in PP and PA6 nanocomposites with clays, the permeability showed increases and decreases depending on the solubility of the permeating gases with the clays and the polymers. Tensile stress-strain tests otherwise showed that the nanocomposites with clays present an enhancement in the elastic modulus. Meanwhile, with the LSN, a decrease was found due to the formation of agglomerations and voids. Finally, thermogravimetric analysis under inert conditions showed the nanoparticles do not have a significant effect on the thermal stability of the nanocomposites. These results expose the relevance of the type of layered nanoparticle and polymer matrix on the barrier, mechanical, and thermal behaviors of the resulting nanocomposites.

9.
Pediatr Nephrol ; 24(2): 295-9, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18846390

RESUMO

The aim of this retrospective, case-control study was to determine the effect of the amphotericin B lipid complex (ABLC) on serum creatinine (SCr), blood urea nitrogen (BUN), sodium (Na), and potassium (K) in very low birth weight (VLBW) infants. Medical records of all VLBW infants who were admitted to our Neonatal Intensive Care Unit between May 1998 and May 2006 and had received ABLC for at least 2 weeks were reviewed for patient demographics, use of medications (ABLC, diuretics, xanthines, indomethacin, vancomycin, gentamicin, pressors, and inotropes), fluid intake, urinary output, and serum electrolytes. Thirty-five patients who received ABLC were identified and matched by gestational age (GA) to 35 patients who served as controls. Infants who received ABLC had an average GA of 25.7 +/- 2.1 weeks and a birth weight of 764 +/- 196 g. Between day 1 and 14 of ABLC treatment, the BUN decreased from 17.5 +/- 11.5 to 10.5 +/- 6.8 mg/dl (p = 0.01), the SCr varied between 0.78 +/- 0.32 and 0.69 +/- 0.32 mg/dl, Na varied between 136.6 +/- 5.8 and 137.8 +/- 3.6 mEq/l, and K varied between 4.8 +/- 0.9 and 4.9 +/- 0.6 mEq/l, respectively. Based on these results, we conclude that treatment with ABLC for 2 weeks did not increase BUN or SCr, nor decrease Na or K in VLBW infants.


Assuntos
Anfotericina B/administração & dosagem , Antifúngicos/administração & dosagem , Recém-Nascido de muito Baixo Peso , Nefropatias/epidemiologia , Rim/efeitos dos fármacos , Nitrogênio da Ureia Sanguínea , Estudos de Casos e Controles , Creatinina/sangue , Feminino , Humanos , Recém-Nascido , Masculino , Potássio/sangue , Estudos Retrospectivos , Fatores de Risco , Sódio/sangue
10.
Clin Geriatr Med ; 24(4): 701-19, ix, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18984382

RESUMO

The United States population at the greatest risk for hip fracture, those aged 65 years and older, is steadily increasing in size. Today, the incidence of hip fracture is approximately 250,000 per year and it is expected to double in the next 30 years. Hip fracture patients are comorbid at baseline, and there are complications inherent to hip fractures that can occur in almost a predictable fashion. Overall, one in four hip fracture patients will die within one year of injury. Medical comanagement of hip fracture patients offers the best chance for successful outcome.


Assuntos
Fraturas do Quadril/terapia , Idoso , Fraturas do Quadril/complicações , Humanos , Complicações Pós-Operatórias
11.
Mol Genet Metab ; 81(2): 122-6, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14741193

RESUMO

Variation in the calpain-10 gene (CAPN10) has been associated with risk of type 2 diabetes in the Mexican American population of Starr County, Texas. We typed five polymorphisms in the calpain-10 gene (SNP-43, -43, -63, and -110 and Indel-19) to test for association with type 2 diabetes in 248 individuals representative of the mestizo population of Mexico City and Orizaba, Mexico including 134 patients with type 2 diabetes and 114 subjects with normal fasting blood glucose levels. We found a significant difference in SNP-44 allele and genotype frequencies between type 2 diabetic and non-diabetic subjects. The rare allele at SNP-44 was associated with increased risk of type 2 diabetes (odds ratio (OR)=2.72, 95% confidence interval (CI)=1.16-6.35, P=0.017). SNP-110, which is in perfect linkage disequilibrium with SNP-44, was also associated with type 2 diabetes. The SNP-43, Indel-19, and SNP-63 haplogenotype 112/121 associated with significantly increased risk (OR=2.16, 95% CI=1.31-3.57) of type 2 diabetes in Mexican Americans was not associated with significantly increased in risk in Mexicans (OR=1.15, 95% CI=0.57-2.34). The results suggest that variation in CAPN10 affects risk of type 2 diabetes in the mestizo population of central Mexico (Mexico City and Orizaba) and in Mexican Americans (Starr County, Texas).


Assuntos
Calpaína/genética , Diabetes Mellitus Tipo 2/genética , Idoso , Diabetes Mellitus Tipo 2/sangue , Feminino , Frequência do Gene , Haplótipos , Humanos , Desequilíbrio de Ligação , Masculino , México/etnologia , Pessoa de Meia-Idade , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Texas
12.
Circ Res ; 92(5): 569-76, 2003 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-12609970

RESUMO

Heterozygous familial hypercholesterolemia (FH) is a highly atherogenic genetic disorder leading to premature coronary heart disease (CHD), usually before 60 years of age. We studied an extended multigenerational kindred with FH linked to chromosome 1p32 in which atherosclerotic complications were either delayed or prevented in individuals with elevated HDL cholesterol (HDL-C) levels or hyperalphalipoproteinemia (HA). Premature CHD was observed in FH individuals without HA. The study of this family established that the HA trait in the family also followed an autosomal dominant mode of inheritance with a pattern of segregation independent from FH. We identified a locus on chromosome 6 linked to elevated HDL-C levels (HA) in this family. Haplotype analysis refined the localization to a 7.32-cM interval (73 to 80 cM from pter) flanked by markers D6S1280 and D6S1275. Parametric 2-point and multipoint analyses yielded maximum LOD scores of 3.05 and 3.17, respectively. This finding was confirmed with a nonparametric multipoint score of 3.78 (P=0.0009). We propose that this locus, linked to elevated HDL-C levels, confers protection against premature CHD within an FH context.


Assuntos
HDL-Colesterol/sangue , Cromossomos Humanos Par 6 , Doença da Artéria Coronariana/genética , Hiperlipoproteinemia Tipo II/genética , Idoso , Mapeamento Cromossômico , Doença da Artéria Coronariana/epidemiologia , Saúde da Família , Feminino , Ligação Genética , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemias/sangue , Hiperlipoproteinemias/genética , Masculino , Pessoa de Meia-Idade , Linhagem
13.
Arch Med Res ; 34(1): 70-5, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12604379

RESUMO

BACKGROUND: Familial defective apolipoprotein B100 (FDB) is one of the known causes of familial hypercholesterolemia (FH). Its frequency among subjects with FH varies among ethnic groups; information on FH is insufficient for populations from Latin America. We proposed to describe prevalence of FDB in a cohort of Mexican FH probands (n = 30). METHODS: We searched for the known FDB mutations using polymerase chain reaction assays. In this set of patients, mean lipid values were representative of FH (cholesterol 351 mg/dL, LDL cholesterol 274 mg/dL, HDL cholesterol 51 mg/dL, and triglycerides 132 mg/dL). RESULTS: One subject with Arg3500Gln mutation was found: a 44-year-old male with a history of coronary heart disease (CHD) among paternal relatives. His lipid profile was cholesterol 370 mg/dL, LDL-cholesterol 300 mg/dL, HDL-cholesterol 32 mg/dL, and triglycerides 189 mg/dL. Tendinous xanthomata were detected. Three of four siblings, one of three sons, and one of nine nieces and nephews carried the mutation. The mutation was confirmed by automated sequencing. Tendinous xanthomata were absent in affected subjects younger than age 20 years; additionally, the subjects had borderline cholesterol levels. CONCLUSIONS: Our data suggest that FDB explains the small number of FH cases in Mexico. Inclusion of molecular biology assays to the clinical laboratory makes it possible to diagnose affected individuals with borderline cholesterol levels or without tendinous xanthomata.


Assuntos
Apolipoproteínas B/metabolismo , Hiperlipoproteinemia Tipo II/metabolismo , Adolescente , Adulto , Idoso , Apolipoproteína B-100 , Apolipoproteínas B/genética , Criança , Feminino , Humanos , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/genética , Lipídeos/sangue , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Linhagem , Mutação Puntual
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