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1.
Rev. chil. enferm. respir ; 38(3): 151-159, sept. 2022. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1423696

RESUMO

Objetivo: Analizar y modelar los cambios en la tendencia de la mortalidad por neumonía en la población mayor de 15 años de Chile, entre los años 2000 y 2016. Métodos: Estudio epidemiológico basado en información de bases de datos públicas de estadísticas vitales del Departamento de Estadística e Información en Salud (DEIS) y del Instituto Nacional de Estadística (INE) del Ministerio de Salud (MINSAL) de Chile. Los casos fueron identificados por los códigos CIE-10 J12-J18. Se calculó la tasa de mortalidad estandarizada por edad, según sexo y grupo etario. Se utilizó el análisis de regresión Joinpoint para modelar la mortalidad y estimar el porcentaje de cambio anual (CPA) en las tasas e identificar cambios significativos en las tendencias. Se utilizó el cambio del CPA como medida de resumen. Resultados: Durante el período de estudio, la tasa de mortalidad por neumonía en Chile disminuyó significativamente en un 61,9%, desde 56,3 muertes por 100.000 habitantes el año 2000 a 21,7 muertes por 100.000 habitantes en el año 2016, con un CPA de −4,2%, (p < 0,05). El 90% de los fallecidos tenían más de 65 años. Conclusiones: Las tasas de mortalidad por neumonía en Chile en mayores de 15 años muestran una tendencia a la disminución sostenida significativa en el período comprendido entre los años 2000 y 2016.


Objective: To analyze and model changes in the pneumonia mortality trend in the population over 15 years old of Chile, between 2000 and 2016. Methods: Epidemiological study based on information from public databases of vital statistics of the Department of Health Statistics and Information (DEIS) and the National Institute of Statistics (INE) of the Ministry of Health (MINSAL) of Chile. The cases were identified by the codes ICD-10 J12-J18. We calculated age-standardized overall mortality, according to sex and age group. Joinpoint regression analysis was used to model mortality and estimate the annual percentage of change (APC) in rates and identify significant changes in trends. APC was used as a summary measure. Results: During the period studied, the pneumonia mortality rate in Chile decreased significantly by 61.9%. Mortality rate diminished from 56.3 deaths per 100,000 inhabitants in 2000 to 21.7 deaths per 100,000 inhabitants in 2016 with an APC of −4.2%, (p < 0.05). Almost 90% of the deceased were over 65 years old. Conclusions: Mortality rates for pneumonia in Chile in people over 15 years of age show a significant sustained decreasing trend in the period between 2000 and 2016.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Pneumonia/mortalidade , Estudos Epidemiológicos , Comorbidade , Chile/epidemiologia , Análise de Regressão , Fatores de Risco , Estatísticas Vitais , Mortalidade/tendências , Causas de Morte , Distribuição por Idade e Sexo
2.
Sci Rep ; 7(1): 4926, 2017 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-28706240

RESUMO

Carbonaceous particulate matter (PM), comprising black carbon (BC), primary organic aerosol (POA) and secondary organic aerosol (SOA, from atmospheric aging of precursors), is a highly toxic vehicle exhaust component. Therefore, understanding vehicle pollution requires knowledge of both primary emissions, and how these emissions age in the atmosphere. We provide a systematic examination of carbonaceous PM emissions and parameterisation of SOA formation from modern diesel and gasoline cars at different temperatures (22, -7 °C) during controlled laboratory experiments. Carbonaceous PM emission and SOA formation is markedly higher from gasoline than diesel particle filter (DPF) and catalyst-equipped diesel cars, more so at -7 °C, contrasting with nitrogen oxides (NOX). Higher SOA formation from gasoline cars and primary emission reductions for diesels implies gasoline cars will increasingly dominate vehicular total carbonaceous PM, though older non-DPF-equipped diesels will continue to dominate the primary fraction for some time. Supported by state-of-the-art source apportionment of ambient fossil fuel derived PM, our results show that whether gasoline or diesel cars are more polluting depends on the pollutant in question, i.e. that diesel cars are not necessarily worse polluters than gasoline cars.

3.
J Diabetes Res ; 2016: 3458969, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27595113

RESUMO

Despite an increasing focus on health literacy in the clinical setting and in the literature, there is still ongoing debate about its influence on diabetes self-management. The aim of the study was to examine the relationships of sociodemographic, clinical, and psychological factors on health literacy and diabetes self-management. A cross-sectional survey was undertaken on 224 patients with type 2 diabetes at two diabetes centres in Sydney, Australia. Findings showed that people with low health literacy were more likely to (a) have lower educational attainment; (b) be migrants; and (c) have depressed mood. Unexpectedly, those who met HbA1c threshold of good glucose control were more likely to have low health literacy. Predictors of low diabetes self-management included (a) younger age group (AOR: 2.58, 95% CI: 1.24-4.64); (b) having postsecondary education (AOR: 2.30, 95% CI: 1.05-5.01); (c) low knowledge of diabetes management (AOR: 2.29, 95% CI: 1.25-4.20); and (d) having depressed mood (AOR: 2.30, 95% CI: 1.30-4.06). The finding that depressed mood predicted both low health literacy and low diabetes self-management stresses the importance of screening for depression. Increasing people's understanding of diabetes self-management and supporting those with depression are crucial to enhance participation in diabetes self-management.


Assuntos
Depressão/psicologia , Diabetes Mellitus Tipo 2/psicologia , Emigrantes e Imigrantes/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Letramento em Saúde , Autocuidado/psicologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Austrália , Estudos Transversais , Diabetes Mellitus Tipo 2/metabolismo , Diabetes Mellitus Tipo 2/terapia , Escolaridade , Feminino , Hemoglobinas Glicadas/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Inquéritos e Questionários , Adulto Jovem
4.
Rev. chil. obstet. ginecol ; 80(5): 373-380, ago. 2015. tab
Artigo em Espanhol | LILACS | ID: lil-764067

RESUMO

ANTECEDENTES: Los trabajadores agrícolas y habitantes rurales están expuestos a productos plaguicidas. Aun cuando las políticas sanitarias se preocupan de normarlos, diversos estudios demuestran exposición en trabajadores y residentes cercanos a las zonas productivas. Entre ellos se encuentran mujeres gestantes, consideradas población particularmente vulnerable frente a plaguicidas. OBJETIVO: Identificar el contacto con plaguicidas, así como conductas asociadas a su uso, en mujeres gestantes de dos comunas agrícolas de la V Región en control prenatal en Centros de Salud Familiar. MÉTODO: Estudio observacional transversal, realizado en una muestra de ochenta gestantes que ingresaron a control entre mayo 2013 y abril 2014. El instrumento de recolección de datos fue una encuesta, aplicada por el equipo de salud al ingreso. RESULTADOS: Las gestantes, en su gran mayoría, alguna vez han tenido contacto con plaguicidas, y cerca de la mitad lo tuvo en el mismo año en que se aplicó la encuesta. La exposición a plaguicidas se da tanto en los espacios productivos, como residenciales. Se observó que las medidas preventivas asociadas al contacto con agrotóxicos son insuficientes. A la vez, destaca la exposición a fumigaciones aéreas, frente a las cuales la posibilidad de prevención es aún menor. CONCLUSIÓN: En comunas rurales puede existir un contacto permanente de la población femenina gestante con plaguicidas, lo cual sucede sin las medidas de protección adecuadas, incrementando el riesgo de exposición a estas sustancias. Es pertinente entonces, desarrollar una labor educativa activa para mejorar las prácticas de uso de plaguicidas.


BACKGROUND: Agriculture workers and rural dwellers are exposed to pesticide products. Sanitation policies attempt to regulate their use, but studies demonstrate that a significant percentage of workers and residents who are close to the productive zones are exposed to these chemicals. Pregnant women are particularly vulnerable to pesticides. AIM: To identify the risk of exposure to pesticides and practices of pesticide handling in women under pregnancy control programs in Family Health Care Centers in two rural districts of the 5th Region. METHOD: Cross-sectional study, conducted during May 2013 and April 2014 on eighty women, who entered pregnancy control programs in either rural district. The health professionals of the Centers collected the data in a survey. RESULTS: Most of the pregnant women declared having been in contact with pesticides at some point. Almost half of them had this contact in the same year of their interview, that is previous or during their pregnancy. The exposure to pesticides takes place in productive locations as well as residential areas. The preventive measures associated to the contact with pesticides are not sufficient. Rural populations are also exposed to aerial fumigations, which further limits preventive measures. CONCLUSION: Pregnant women living in a rural district may be permanently exposed to pesticides. Exposure to agrochemicals is not associated to safe prevention practices which increase the risk of exposure. Educational programs may aid to enhance safe pesticide use.


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Adulto Jovem , Praguicidas/efeitos adversos , Atenção Primária à Saúde , Exposição Materna/prevenção & controle , Exposição Ambiental/prevenção & controle , Comportamentos Relacionados com a Saúde , Zona Rural , Chile , Estudos Transversais , Inquéritos e Questionários , Agroquímicos , Exposição Materna/estatística & dados numéricos , Exposição a Praguicidas , Agricultura , Exposição Ambiental/estatística & dados numéricos , Equipamento de Proteção Individual
5.
Nat Commun ; 5: 3749, 2014 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-24825457

RESUMO

Fossil fuel-powered vehicles emit significant particulate matter, for example, black carbon and primary organic aerosol, and produce secondary organic aerosol. Here we quantify secondary organic aerosol production from two-stroke scooters. Cars and trucks, particularly diesel vehicles, are thought to be the main vehicular pollution sources. This needs re-thinking, as we show that elevated particulate matter levels can be a consequence of 'asymmetric pollution' from two-stroke scooters, vehicles that constitute a small fraction of the fleet, but can dominate urban vehicular pollution through organic aerosol and aromatic emission factors up to thousands of times higher than from other vehicle classes. Further, we demonstrate that oxidation processes producing secondary organic aerosol from vehicle exhaust also form potentially toxic 'reactive oxygen species'.


Assuntos
Aerossóis/análise , Poluição do Ar/análise , Cidades , Motocicletas , Material Particulado/análise , Espécies Reativas de Oxigênio/análise , Emissões de Veículos/análise , Ásia , Europa (Continente) , Combustíveis Fósseis , Humanos
6.
Transplant Proc ; 45(10): 3716-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24315006

RESUMO

OBJECTIVE: Renal transplantation is the most successful therapy to improve survival and quality of life for patients with end-stage renal disease. Living donors have been used as an alternative to reduce the stay on the waiting list. Laparoscopic living donor nephrectomy has become the standard procedure for renal transplantation. Minimally invasive surgery involves less postoperative pain with less analgesic requirements allowing shorter hospital stay for the donor. MATERIAL AND METHODS: We retrospectively analyzed demographic and intraoperative data and surgical complications for 46 patients who underwent laparoscopic living donor nephrectomy between March 2001 and March 2011. RESULTS: Mean donor age was 41 years. Mean operative time was 170 ± 45 minutes. The average cold ischemic time was 40 minutes and warm ischemic time was 26 minutes. Twenty-one patients were donors for pediatric receptors. Fourty patients underwent left laparoscopic nephrectomy, the other 6 patients underwent right laparoscopic nephrectomy due to vascular anatomic variant. Right laparoscopic nephrectomy was converted in 1 case (2.2%) due to renal vein laceration without donor morbidity and without compromise of graft function. Renal function at the second day post donor nephrectomy was measured using serum creatinine averaged 1.2 mg/dL with a mean increase of 0.4 mg/dL from baseline, with normalization after 30 days. No patient required blood transfusion, and there were no immediate surgical complications, infections, or mortality. One patient developed an incisional hernia in relation to the site of kidney removal. The mean hospital stay was 5 ± 1 days. CONCLUSIONS: Laparoscopic nephrectomy in our experience is a safe technique without postoperative morbidity or mortality. It is associated with low levels of pain, early discharge and early return to physical activity and work, good sense of aesthetic results, and long-term graft function comparable to traditional nephrectomy and cadaveric grafts.


Assuntos
Transplante de Rim/métodos , Laparoscopia , Doadores Vivos , Nefrectomia/métodos , Adulto , Biomarcadores/sangue , Chile , Isquemia Fria , Creatinina/sangue , Feminino , Humanos , Transplante de Rim/efeitos adversos , Laparoscopia/efeitos adversos , Tempo de Internação , Masculino , Nefrectomia/efeitos adversos , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Isquemia Quente
7.
Anal Bioanal Chem ; 404(1): 273-6, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22644155

RESUMO

Resonance-enhanced multiphoton ionisation time-of-flight mass spectrometry (REMPI-TOF-MS) is a robust method for real-time analysis of monocyclic and polycyclic aromatic hydrocarbons in complex emissions. A mobile system has been developed which enables direct analysis on site. In this paper, we utilize a multicomponent calibration scheme based on the analytes' photo-ionisation cross-sections relative to a calibrated species. This allows semi-quantification of a great number of components by only calibrating one compound of choice, here toluene. The cross-sections were determined by injecting nebulised solutions of aromatic compounds into the TOF-MS ion source with the help of a HPLC pump. Then, REMPI-TOF-MS was implemented at various chassis dynamometers and test cells and the exhaust of the following vehicles and engines investigated: a compression ignition light-duty (LD) passenger car, a compression ignition LD van, two spark ignition LD passenger cars, 2 two-stroke mopeds, and a two-stroke engine of a string gas trimmer. The quantitative time profiles of benzene are shown. The results indicate that two-stroke engines are a significant source for toxic and cancerogenic compounds. Air pollution and health effects caused by gardening equipment might still be underestimated.

8.
Anal Chim Acta ; 717: 28-38, 2012 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-22304813

RESUMO

Two-stroke mopeds are a popular and convenient mean of transport in particular in the highly populated cities. These vehicles can emit potentially toxic gaseous and aerosol pollutants due to their engine technology. The legislative measurements of moped emissions are based on offline methods; however, the online characterization of gas and particulate phases offers great possibilities to understand aerosol formation mechanism and to adapt future emission standards. The purpose of this work was to study the emission behavior of two mopeds complying with different European emission standards (EURO-1 and EURO-2). A sophisticated set of online analyzers was applied to simultaneously monitor the gas phase and particulate phase of exhaust on a real time basis. The gaseous emission was analyzed with a high resolution Fourier transform infrared spectrometer (FTIR; nitrogen species) and a resonance-enhanced multiphoton ionization time-of-flight mass spectrometer (REMPI-ToF-MS; polycyclic aromatic hydrocarbons: PAH), whereas the particulate phase was chemically characterized by a high-resolution time-of-flight aerosol mass spectrometer (HR-ToF-AMS; organic, nitrate and chloride aerosol) and a multiangle absorption photometer (MAAP; black carbon). The physical characterization of the aerosol was carried out with a condensation particle counter (CPC; particle number concentration) and a fast mobility particle sizer (FMPS; size distribution in real time). In order to extract underlying correlation between gas and solid emissions, principal component analysis was applied to the comprehensive online dataset. Multivariate analysis highlighted the considerable effect of the exhaust temperature on the particles and heavy PAH emissions. The results showed that the after-treatment used to comply with the latest EURO-2 emission standard may be responsible for the production of more potentially harmful particles compared to the EURO-1 moped emissions.

9.
Anal Chem ; 83(1): 67-76, 2011 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-21126058

RESUMO

The European Commission recently established a novel test facility for heavy-duty vehicles to enhance more sustainable transport. The facility enables the study of energy efficiency of various fuels/scenarios as well as the chemical composition of evolved exhaust emissions. Sophisticated instrumentation for real-time analysis of the gas and particulate phases of exhaust has been implemented. Thereby, gas-phase characterization was carried out by a Fourier transform infrared spectrometer (FT-IR; carbonyls, nitrogen-containing species, small hydrocarbons) and a resonance-enhanced multiphoton ionization time-of-flight mass spectrometer (REMPI-TOFMS; monocyclic and polycyclic aromatic hydrocarbons). For analysis of the particulate phase, a high-resolution time-of-flight aerosol mass spectrometer (HR-TOF-AMS; organic matter, chloride, nitrate), a condensation particle counter (CPC; particle number), and a multiangle absorption photometer (MAAP; black carbon) were applied. In this paper, the first application of the new facility in combination with the described instruments is presented, whereby a medium-size truck was investigated by applying different driving cycles. The goal was simultaneous chemical characterization of a great variety of gaseous compounds and particulate matter in exhaust on a real-time basis. The time-resolved data allowed new approaches to view the results; for example, emission factors were normalized to time-resolved consumption of fuel and were related to emission factors evolved during high speeds. Compounds could be identified that followed the fuel consumption, others showed very different behavior. In particular, engine cold start, engine ignition (unburned fuel), and high-speed events resulted in unique emission patterns.

10.
Sci Total Environ ; 408(21): 5106-16, 2010 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-20692024

RESUMO

European regulation for Euro 5/6 light duty emissions introduced the measurement of non-volatile particles with diameter >23 nm. The volatile phase is removed by using a heated dilution stage (150 degrees C) and a heated tube (at 300-400 degrees C). We investigated experimentally the removal efficiency for volatile species of the specific protocol by conducting measurements with two Euro 3 diesel light duty vehicles, a Euro 2 moped, and a Euro III heavy duty vehicle with the system's heaters on and off. The particle number distributions were measured with a Scanning Mobility Particle Sizer (SMPS) and a Fast Mobility Particle Sizer (FMPS). An Aerosol Mass Spectrometer (AMS) was used to identify the non-refractory chemical composition of the particles. A Multi-Angle Absorption Photometer (MAAP) was used to measure the black carbon concentration. The results showed that the condensed material in the accumulation mode (defined here as particles in the diameter range of approximately 50-500 nm) was removed with an efficiency of 50-90%. The (volatile) nucleation mode was also completely evaporated or was decreased to sizes <23 nm; thus these particles wouldn't be counted from the particle counter, indicating the robustness of the protocol.


Assuntos
Aerossóis/análise , Poluentes Atmosféricos/análise , Poluição do Ar/prevenção & controle , Monitoramento Ambiental/métodos , Recuperação e Remediação Ambiental/instrumentação , Material Particulado/análise , Emissões de Veículos/prevenção & controle , Aerossóis/química , Poluentes Atmosféricos/química , Poluição do Ar/legislação & jurisprudência , Meio Ambiente , Recuperação e Remediação Ambiental/legislação & jurisprudência , Regulamentação Governamental , Material Particulado/química , Emissões de Veículos/análise
11.
Environ Sci Technol ; 44(1): 505-12, 2010 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-19928903

RESUMO

In view of a new amendment to the European legislative regulation on emissions from two-stroke mopeds a study was carried out to comprehensively characterize exhaust gases of mopeds complying current EURO-2 emission standards. Three mopeds with different engine types (carburetor, direct injection, and electronic carburetion system ECS) where investigated by applying two different driving cycles, the legislative cycle ECE47 and the worldwide motorcycle test cycle WMTC. Thereby, particulate matter (PM), regulated compounds, carbonyls, volatile hydrocarbons (VOC), and particle-associated polyaromatic hydrocarbons (PAH) were analyzed and ozone formation potentials (OFP) as well as toxicity equivalents (TEQ) determined. The ECE47 emission factors for almost all species and moped types were much higher in the nonregulated, prior cold phase than in the hot phase, which is considered for legislation. Great differences for the mopeds could be observed for NO(x), VOC, and PM, whereas discrepancies between the driving cycles ECE47 and WMTC were smaller. In addition, a positive influence on exhaust composition caused by technical modifications of the ECS engine was determined. Results indicate that regulation of total hydrocarbons (THC) alone might not be sufficient to regulate PM, especially for direct injection engines. Moreover, recommendations for a revised future test protocol are demonstrated and discussed, whereby the cold phase and the hot phase are taken into account.


Assuntos
Veículos Automotores , Emissões de Veículos/análise , Europa (Continente)
12.
J Chromatogr A ; 1071(1-2): 29-39, 2005 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-15865170

RESUMO

The European Ozone Directive 2002/3/EC specifies the analysis of 30 individual C2-C9 hydrocarbons in urban air with the attribution of emission sources to pollution concentrations as a major objective. In the present study, we investigate an approach for source apportionment of these ozone precursor hydrocarbons in urban air based on reliable semi continuous volatile organic compound (VOC) analysis in the field and in vehicle emission laboratory combined with multivariate receptor modeling. The GC system relies on an hourly analytical cycle based on a trap sample enrichment phase followed by a dual column gas chromatographic flame ionisation detector (FID) analysis and has successfully been tested during an air monitoring campaign at an urban site (Milan, Italy, September 2003) and in the vehicle laboratory performing exhaust emission measurements while running driving cycles on a chassis dynamometer (mopeds, gasoline and diesel cars). The receptor modeling relies on two complementary principles. The chemical mass balance (CMB) modeling apportions well characterized source profiles for the 30 individual C2-C9 hydrocarbons in the Ozone Directive to the concentrations in ambient air and produces source contribution estimates (SCE) as output. The positive matrix factorization (PMF) analyses variability in the ambient air concentration data and searches for latent variables consisting of co-varying hydrocarbons and produces profiles as output, which in this study could be attributed to known emission sources. Both CMB and PMF rely on an estimated uncertainty for each input data. A new approach is presented, by which the uncertainty is allowed to float as function of the photochemical reactivity of the atmosphere and the stability of each individual compound.


Assuntos
Cromatografia Gasosa/métodos , Hidrocarbonetos/química , Ozônio/química , Itália
13.
Theor Appl Genet ; 104(5): 894-900, 2002 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12582651

RESUMO

Molecular markers were used to assess polymorphism between and within the genetic bases of coffee (i.e. Typica and Bourbon) spread from Yemen since the early 18th century that have given rise to most arabica cultivars grown world-wide. Eleven Coffea arabica accessions derived from the disseminated bases were evaluated by amplified fragment length polymorphism (AFLP) using 37 primer combinations and simple-sequence repeats (SSRs) produced by six microsatellites. Four cultivars growing in Yemen and 11 subspontaneous accessions collected in the primary centre of diversity of the species were included in the study in order to define their relationship with the accessions derived from the genetic bases of cultivars. One hundred and seven AFLP markers were used to calculate genetic distances and construct a dendrogram. The accessions derived from the disseminated bases were grouped separately, according to their genetic origin, and were distinguished from the subspontaneous accessions. The Yemen cultivars were classified with the Typica-derived accessions. Except for one AFLP marker, all AFLP and SSR markers present in the cultivated accessions were also detected in the subspontaneous accessions. Polymorphism among the subspontaneous accessions was much higher than among the cultivated accessions. It was very low within the genetic bases, confirming the historical documentation on their dissemination. The results enabled a discussion of the genetic diversity reductions that successively occurred during the dissemination of C. arabica from its primary centre of diversity.

14.
Thromb Haemost ; 74(5): 1215-20, 1995 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-8607097

RESUMO

We report the genetic abnormalities in the protein C genes of a Spanish child with neonatal purpura fulminans and disseminated intravascular coagulation, associated with undetectable protein C levels. Direct sequencing of the nine protein C gene exons and their splice junctions indicated that the proband is a compound heterozygote with two mutant protein C gene alleles, Y124C and Q132X, that do not express protein C in plasma. The Y124C mutation was inherited from the mother and is due to a novel A to G transition at nucleotide 3416, which results in the substitution of cysteine for tyrosine 124, a highly conserved amino acid in EGF-like domains. The paternal inherited mutation (Q132X) is a C to T transition at nucleotide 3439, which replaces glutamine 132 with a Stop codon signal. This mutation, if expressed, should result in the synthesis of a truncated protein of 131 amino acids. Y124C or Q132X are present in the heterozygous state in the asymptomatic parents and siblings of the proband, all of which have half the normal plasma levels of protein C. Q123X has also been identified in families where type I PC deficiency is inherited as a clinically dominant trait. Therefore, the presence of the same mutation in a family showing a clinically recessive pattern of inheritance indicates that other factors, apart from the type of protein C gene mutation, are responsible for the clinical expression of protein C deficiency.


Assuntos
Proteína C/genética , Púrpura/genética , Alelos , Sequência de Bases , Criança , Heterozigoto , Humanos , Masculino , Dados de Sequência Molecular , Mutação , Polimorfismo Genético , Deficiência de Proteína C , Púrpura/metabolismo , Análise de Sequência , Espanha
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