Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 18 de 18
Filtrar
Mais filtros

País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
J Environ Manage ; 274: 111210, 2020 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-32798843

RESUMO

The objective of this study was to explore the roles of technological innovation, environmental regulations, and urbanization in ecological efficiency within the context of the 2015 Paris agreement. Initially, the study employed the super-efficiency DEA model to estimate the ecological efficiencies of 30 regions in China. Following this, the system GMM method was used to explore the impacts of technological innovation, environmental regulations, and urbanization on ecological efficiency. We used annual data from 2008 to 2018. The results indicate that, in terms of ecological efficiency, the eastern region was the highest ranked, followed by central and western regions, respectively. The urbanization index has a negative impact on ecological efficiency at a national level. However, in the context of regions, it is positively significant in the eastern region, while the results in the central and western regions are insignificant. The influence of technological innovation on ecological efficiency is found to be significantly positive at both national and regional levels. It is generally perceived that environmental regulations are pivotal for sustainability. Our results verify this argument and indicate that environmental regulations have a positive impact on ecological efficiency in the central and eastern regions. However, their impact is found to be negative in the western region. Policy suggestions are discussed, in order to further strengthen environmental laws and sustainability.


Assuntos
Invenções , Urbanização , China , Eficiência , Paris
2.
Physiol Mol Biol Plants ; 26(3): 489-499, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32205925

RESUMO

The present experiment was set-up to appraise protective role of ALA in sunflower cultivars (FH-1581 and FH-1572) under water scarcity stress. The  ameliorative role of ALA in sunflower under water stress is not fully understood. Results showed significant decline in growth parameters, ascorbic acid and chlorophyll but marked increase in MDA, H2O2, total soluble proteins, flavonoids, proline, phenolics, total free amino acids as well as enzymes activities namely CAT, POD and SOD in plants under water scarcity. ALA application reduced oxidative damage by lowering H2O2 and MDA contents. ALA application differentially affected two cultivars under stress. Higher biomass accumulation was manifested in cv. FH-1581, while cv. FH-1572 was inferior in this context. Greater drought tolerance in cv. FH-1581 was related to higher cellular levels of proline, total free amino acids and efficient antioxidant system.

3.
Molecules ; 24(9)2019 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-31071946

RESUMO

This work incorporates a variety of conjugated donor-acceptor (DA) co-monomers such as 2,6-diaminopurine (DP) into the structure of a polymeric carbon nitride (PCN) backbone using a unique nanostructure co-polymerization strategy and examines its photocatalytic activity performance in the field of photocatalytic CO2 reduction to CO and H2 under visible light irradiation. The as-synthesized samples were successfully analyzed using different characterization methods to explain their electronic and optical properties, crystal phase, microstructure, and their morphology that influenced the performance due to the interactions between the PCN and the DPco-monomer. Based on the density functional theory (DFT) calculation result, pure PCN and CNU-DP15.0 trimers (interpreted as incorporation of the co-monomer at two different positions) were extensively evaluated and exhibited remarkable structural optimization without the inclusion of any symmetry constraints (the non-modified sample derived from urea, named as CNU), and their optical and electronic properties were also manipulated to control occupation of their respective highest occupied molecular orbital (HOMO) and lowest unoccupied molecular orbital (LUMO). Also, co-polymerization of the donor-acceptor 2,6-diamino-purine co-monomer with PCN influenced the chemical affinities, polarities, and acid-base functions of the PCN, remarkably enhancing the photocatalytic activity for the production of CO and H2 from CO2 by 15.02-fold compared than that of the parental CNU, while also improving the selectivity.


Assuntos
Dióxido de Carbono/química , Elétrons , Luz , Nitrilas/química , Polímeros/química , Adsorção , Espectroscopia de Ressonância Magnética Nuclear de Carbono-13 , Catálise/efeitos da radiação , Eletroquímica , Nitrogênio/química , Oxirredução , Espectroscopia Fotoeletrônica , Espectrofotometria Ultravioleta , Espectroscopia de Infravermelho com Transformada de Fourier , Difração de Raios X
4.
Hemoglobin ; 42(5-6): 320-325, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30700180

RESUMO

Compromised quality of life (QoL) has been reported in individuals suffering from ß-thalassemia major (ß-TM) in Pakistan. However, insufficient data of its associated psychosocial, physical and other disease-related determinants is available. In an observational analytical study, 200 subjects aged between 5-25 years, were examined using a transfusion-dependent QoL (TranQoL) questionnaire. Clinical records and other related data were also gathered from transfusion center databases. The TranQoL mean score was 48.33 ± 5.6, ranging from 53.86 ± 13.6 for family functioning and support domain to 39.70 ± 18.4 for school and career functioning domain. Age, income, education, pre transfusion hemoglobin (Hb), serum ferritin level, pain, death due to ß-thal, monetary issues and pain were significantly associated with TranQoL scores. It was not only the clinical conditions but life alterations, social relationship and psychological events also loomed in improvement of treatment outcomes. Therefore, a tetra-cone of patient, school representatives, family and physicians are needed for better patient prospective.


Assuntos
Qualidade de Vida , Talassemia beta/psicologia , Adolescente , Transfusão de Sangue , Cuidadores , Criança , Pré-Escolar , Humanos , Acontecimentos que Mudam a Vida , Paquistão , Grupos de Autoajuda , Inquéritos e Questionários , Adulto Jovem , Talassemia beta/terapia
5.
Pak J Pharm Sci ; 28(5): 1573-81, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26408866

RESUMO

Camellia sinensisis traditionally used in many polyherbal preparations for the treatment of different diseases and infections. Its action has been associated with its antioxidant activities. In this study, antioxidant effect of Camellia sinensis on hydrogen peroxide-induced human lymphocyte cell cultures was estimated. Camellia sinensis showed high contents of ascorbic acid, phenols, flavonoids, and flavonols. Good scavenging activity was evident by scavenging assays e.g. 2,2-DiPhenyl-2-Picrylhydrazyl Hydrate (DPPH), 2,2-Azinobis (3-ethyl-BenzoThiazoline-6-Sulfonic acid (ABTS) radical assay and reducing power assay. Moreover, High Performance Liquid Chromatography (HPLC-UV) chromatographs showed many notable peaks of unidentified bioactive compounds. In vitro antioxidant actions were determined by the activities of catalase (ELISA kit method), superoxide dismutase, lipid peroxidation and total protein contents on lymphocyte cell cultures. In vitro experimental trial showed strong antioxidant repair mechanism of plant against oxidative stress. Results of extraction with solvent methanol showed the highest antioxidant activity. Camellia sinensis is promising source of natural antioxidants and further studies might be a likely source of its use in remedy of different diseases.


Assuntos
Antioxidantes/farmacologia , Camellia sinensis , Extratos Vegetais/farmacologia , Camellia sinensis/química , Células Cultivadas , Cromatografia Líquida de Alta Pressão , Linfócitos/efeitos dos fármacos , Linfócitos/metabolismo
6.
Saudi J Biol Sci ; 29(5): 3347-3353, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35844363

RESUMO

This study aimed to find out the prevalence and antimicrobial resistance profile of Klebsiella pneumoniae in raw food items. A total of 261 raw food items, including vegetables, fruits, meat, and milk samples, were collected and processed for isolation of K. pneumoniae. Further antimicrobial susceptibility testing and molecular analysis was done to analyze the drug resistance encoding genes. The prevalence rate of K. pneumoniae was found to be high (38%), and the raw milk samples were predominantly contaminated (19/51), followed by fruits (12/51), meat (11/51), and vegetables (9/51). However, no significant association was observed for the isolation of K. pneumoniae and any particular specimen. Among the isolates, 43% were extended-spectrum ß-lactamase producers, 24% were AmpC, and 20% were carbapenemase producers. The highest rates of ESBLs and AmpC were observed in vegetables (cabbage, bell pepper, and spinach) and carbapenemases in raw chicken, fish, and raw meat samples. Notably, bla CTX-M was the most prevalent, followed by bla SHV and bla TEM. Six K. pneumoniae possessed bla MOX, and five possessed bla FOX genes. Numerous carbapenemases were identified with a higher proportion of bla NDM. This study indicates that raw vegetables, fruits, meat, and milk are exposed to contaminants. These findings imply a potential threat that drug-resistant K. pneumoniae pathogens could transmit to humans through raw vegetables, fruits, and meat.

7.
Foods ; 11(18)2022 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-36140855

RESUMO

Foodborne pathogens have acquired the ability to produce biofilms to survive in hostile environments. This study evaluated biofilm formation, antimicrobial resistance (AMR), and heavy metal tolerance of bacteria isolated from dairy and non-dairy food products. We aseptically collected and processed 200 dairy and non-dairy food specimens in peptone broth, incubated them overnight at 37 °C, and sub-cultured them on various culture media. Bacterial growth was identified with biochemical tests and API 20E and 20NE strips. The AMR of the isolates was observed against different antibacterial drug classes. Biofilm formation was detected with the crystal violet tube method. Heavy metal salts were used at concentrations of 250−1500 µg/100 mL to observe heavy metal tolerance. We isolated 180 (50.4%) bacteria from dairy and 177 (49.6%) from non-dairy food samples. The average colony-forming unit (CFU) count for dairy and non-dairy samples was 2.9 ± 0.9 log CFU/mL and 5.1 ± 0.3 log CFU/mL, respectively. Corynebacterium kutscheri (n = 74), lactobacilli (n = 73), and Staphylococcus aureus (n = 56) were the predominant Gram-positive and Shigella (n = 10) the predominant Gram-negative bacteria isolated. The correlation between biofilm formation and AMR was significant (p < 0.05) for most cephalosporins, aminoglycosides, and fluoroquinolones. Heavy metal tolerance tended to be higher in biofilm producers at different metal concentrations. The pathogens isolated from dairy and non-dairy food showed a high burden of AMR, high propensity for biofilm formation, and heavy metal tolerance, and pose an imminent threat to public health.

8.
Environ Sci Pollut Res Int ; 28(48): 68364-68378, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34268697

RESUMO

A comprehensive assessment of energy use, environmental degradation, and economic progress can play a significant role in transition towards low-carbon economy, and it can serve as a reference for the green economic development for the rest of the developing world. The objective of this paper is to empirically investigate the current status of conventional and renewable energy use and environmental degradation. Following this, we have analyzed the decoupling relation among environmental degradation, energy use, and economic progress in Pakistan. The study adopted the comprehensive data from year 1972-2017 and applied Tapio decoupling method to explore the decoupling status of environmental degradation, energy use, and economic progress in Pakistan. The key finding from the study shows that the overall value of carbon emissions in Pakistan is relatively increasing with the passage of time and shows about 5.26% average growth rate which is creating severe environmental degradation. There were observed several fluctuations in the trend of carbon emissions which is basically due to the policy changes in the country. From the decoupling point of view, we found the decoupling linkage between energy use and carbon emissions that is growth negative decoupling, whereas a weak decoupling relation has been observed among carbon emissions and economic progress which means that in most of the year's county has achieved more economic growth compared with the carbon emissions. In addition, the similar weak decoupling relationship was found among energy use and economic progress. In the light of these findings, it is suggested to policymakers to promote technological advancement and alternate energy that will not only improve environmental quality, but it will also promote a low-carbon economy.


Assuntos
Dióxido de Carbono , Desenvolvimento Econômico , Carbono/análise , Dióxido de Carbono/análise , China , Paquistão , Energia Renovável
9.
Ann Clin Lab Sci ; 51(4): 512-520, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34452889

RESUMO

OBJECTIVE: Single nucleotide polymorphisms (SNPs) in IL28B and IL10 regions are important in predicting the antiviral response in hepatitis C virus (HCV) patients. In this study, the association of IL28B and IL10 genetic polymorphisms and other clinical factors was assessed as a predictive marker for the sustained virological response (SVR) of HCV patients taking direct-acting antivirals (DAAs). METHODS: We processed 384 serum specimens of HCV serology positive cases for qualitative and quantitative polymerase chain reaction (PCR). Patients were followed up for 12 weeks after the start of antiviral therapy, and the viral load was monitored at each time point. IL28B and IL10 polymorphisms (rs8103142 and rs12980275, rs1800872 and rs3021094, respectively) were detected by real-time PCR, followed by melt curve analysis for genotyping. RESULTS: This study's findings indicate an independent association of SVR with high basal viral load (P=0.005) and an HCV genotype other than 3 (P=0.001). Patients with viral load log10 >6.5 IU/mL required more days to reach an undetectable viral RNA load. The results of the genetic analysis showed a significant association of rs8103142 genotype CC (P<0.01) and rs12980275 genotype AA (P=0.01) with non-SVR. Both SNPs showed an independent association in the multivariate analysis. CONCLUSION: High basal viral load, HCV genotype, and host polymorphisms of rs8103142 and rs12980275 have an independent association in predicting the therapeutic response of HCV patients. The preliminary identification of polymorphisms prior to treatment will help in predicting the outcome of therapy.


Assuntos
Antivirais/uso terapêutico , Hepacivirus/isolamento & purificação , Hepatite C/patologia , Interferons/genética , Interleucina-10/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Biomarcadores/metabolismo , Estudos de Casos e Controles , Feminino , Seguimentos , Genótipo , Hepacivirus/genética , Hepatite C/tratamento farmacológico , Hepatite C/genética , Hepatite C/virologia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Taxa de Sobrevida , Carga Viral , Adulto Jovem
10.
Artigo em Inglês | MEDLINE | ID: mdl-33925201

RESUMO

This study evaluates bacteriological profiles in ready-to-eat (RTE) foods and assesses antibiotic resistance, extended-spectrum ß-lactamase (ESBL) production by gram-negative bacteria, and heavy metal tolerance. In total, 436 retail food samples were collected and cultured. The isolates were screened for ESBL production and molecular detection of ESBL-encoding genes. Furthermore, all isolates were evaluated for heavy metal tolerance. From 352 culture-positive samples, 406 g-negative bacteria were identified. Raw food samples were more often contaminated than refined food (84.71% vs. 76.32%). The predominant isolates were Klebsiella pneumoniae (n = 76), Enterobacter cloacae (n = 58), and Escherichia coli (n = 56). Overall, the percentage of ESBL producers was higher in raw food samples, although higher occurrences of ESBL-producing E. coli (p = 0.01) and Pseudomonas aeruginosa (p = 0.02) were observed in processed food samples. However, the prevalence of ESBL-producing Citrobacter freundii in raw food samples was high (p = 0.03). Among the isolates, 55% were blaCTX-M, 26% were blaSHV, and 19% were blaTEM. Notably, heavy metal resistance was highly prevalent in ESBL producers. These findings demonstrate that retail food samples are exposed to contaminants including antibiotics and heavy metals, endangering consumers.


Assuntos
Metais Pesados , beta-Lactamases , Antibacterianos/uso terapêutico , Escherichia coli/genética , Klebsiella pneumoniae/genética , Metais Pesados/toxicidade , beta-Lactamases/genética
11.
Environ Sci Pollut Res Int ; 27(3): 3113-3123, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31838693

RESUMO

Carbon emissions have turned out to be one of the key alarming and complex issues which drive a long-lasting debate over climate change. The increasing trend in the usage of fossil fuels for the curse of economic development and at the same time reducing carbon emissions has become a significant phenomenon worldwide. In this study, we evaluate carbon emissions (CO2) during 1972-2016 by employing logarithmic mean Divisia index (LMDI) method. The results from decomposition using LMDI method indicate that the economic development factor is the main driving force for the increase of per capita carbon emissions in the country; the energy structure and energy efficiency are the restraining factor for per capita carbon emissions. Therefore, Pakistan should continue to upgrade energy structure from traditional sources to renewable energy sources to curb the increase of carbon emissions, and also, improve the efficiency of energy use and save energy to cope with environmental challenges. Finally, the study concludes with some policy suggestions.


Assuntos
Dióxido de Carbono , Desenvolvimento Econômico , Carbono , Combustíveis Fósseis , Paquistão
12.
Environ Sci Pollut Res Int ; 27(23): 29539-29553, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32440879

RESUMO

The objective of this paper is to explore the nexus of innovation-environment and economic growth in the context of the Indian economy. To achieve the study objective, we explored the role of technological innovation, FDI, trade openness, energy use, and economic growth toward carbon emissions. Using the data of 1985-2017, the study employed ARDL bound testing and vector error correction model (VECM) methods to capture the effects of technological innovation, trade openness, FDI, energy use, and economic growth on CO2 emissions. Empirical estimation has confirmed the existence of long-run cointegration. Similarly, in the long run, it is found that trade openness, energy use, and economic growth positively reinforce CO2 emissions. In contrast, technological innovation and FDI negatively reinforce CO2 emissions in the long run. Furthermore, VECM indicates that the relationship among innovation, trade openness, and energy use is bidirectional in the long run. Whereas, unidirectional relation has been found that is coming from GDP to carbon emissions, FDI, innovation, trade, and energy use. In the short run, unidirectional link found which is coming from FDI, innovation, and energy use to carbon emission. However, the association between emissions and trade openness is bidirectional. The conclusions put forward policy implications that innovation is a way to reduce environmental degradation.


Assuntos
Dióxido de Carbono/análise , Desenvolvimento Econômico , Índia , Invenções , Políticas
13.
Nutrients ; 12(10)2020 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-33003648

RESUMO

The third coronavirus outbreak in the last two decades has caused significant damage to the world's economy and community health. The highly contagious COVID-19 infection has affected millions of people to date and has led to hundreds of thousands of deaths worldwide. Aside from the highly infectious nature of SARS-CoV-2, the lack of a treatment or vaccine has been the main reason for its spread. Thus, it has become necessary to find alternative methods for controlling SARS-CoV-2. For the present review, we conducted an online search for different available nutrition-based therapies for previously known coronavirus infections and RNA-based virus infections as well as general antiviral therapies. These treatments have promise for combating COVID-19, as various nutrients and minerals play direct and indirect roles in the control and prevention of this newly emerged viral infection. The patients' nutritional status with COVID-19 must be analyzed before administering any treatment, and nutritional supplements should be given to the affected individuals along with routine treatment. We suggest a potential interventional role of nutrients to strengthen the immune system against the emerging infection caused by COVID-19.


Assuntos
Infecções por Coronavirus/imunologia , Sistema Imunitário/efeitos dos fármacos , Minerais/farmacologia , Pneumonia Viral/imunologia , Oligoelementos/farmacologia , Vitaminas/farmacologia , Betacoronavirus , COVID-19 , Infecções por Coronavirus/tratamento farmacológico , Infecções por Coronavirus/virologia , Suplementos Nutricionais , Humanos , Sistema Imunitário/fisiologia , Micronutrientes , Minerais/uso terapêutico , Estado Nutricional , Pandemias , Pneumonia Viral/tratamento farmacológico , Pneumonia Viral/virologia , SARS-CoV-2 , Síndrome Respiratória Aguda Grave , Oligoelementos/uso terapêutico , Vitaminas/uso terapêutico
14.
Hematol Transfus Cell Ther ; 41(4): 316-323, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31399357

RESUMO

BACKGROUND: Blood transfusion-transmitted infections in individuals suffering from beta-thalassemia have been reported in Pakistan, but the information on their sociodemographic and clinical determinants is lacking. This study aims to describe the prevalence, as well as the factors, contributing in blood transfusion-transmitted infections. METHOD: Between December 2011 and December 2013, in a non-probable sampling, 350 thalassemia patients were recruited in Lahore, Multan, Karachi and Peshawar, Pakistan. Subjects were screened for transfusion-transmitted infections. RESULTS: A seropositive rate of 36.5% was observed; males (94, 73.4%) and females (34, 26.6%). Among several risk factors associated with transfusion-transmitted infections, province (p=0.001), gender (p=0.003), age (p<0.03), education (p<0.00), degree of consanguinity (p=0.05), age at fetal blood test (p=0.005), fetal hemoglobin levels (p=0.005), death due to thalassemia (p=0.001) and iron-related complications (p=0.04) showed significant correlation. Participants with an age >10 years were significantly more prone to seropositivity than those aged ≤10 years. Moreover, the ferritin level was also significantly higher in those aged >10 years than in those ≤10 years. It was observed that males had a higher seroprevalence rate (94, 73.4%) than females (34, 26.6%). The most prevalent transfusion-transmitted infections was the hepatitis C virus, with 115 cases (89.8%). CONCLUSION: A high prevalence rate of HCV in subjects with transfusion-dependent thalassemia is linked with insufficient facilities, poor management and compromised socioeconomic status. Therefore, more multicenter studies covering cities from different regions of the country are needed in order to develop preventive measurements at the regional and national level.

15.
Environ Toxicol Chem ; 36(5): 1193-1201, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27684504

RESUMO

The present study was conducted to highlight the existing level of organochlorine-pesticides (OCPs) from human milk (n = 45) and blood serum (n = 40) of female workers who pick cotton in Khanewal District, southern Punjab, Pakistan. Source apportionment, congener-specific analysis, and risk surveillance of OCPs are reported from human milk and blood samples. Levels of OCPs in milk and blood serum samples ranged from 15.7 ppb to 538.3 ppb and from 16.4 ppb to 747.1 ppb, respectively, and were lower than previously published reports from other regions of the globe. Congener-specific analysis revealed that DDTs were predominant, followed by hexachlorocyclohexane, chlordane, and hexachlorobenzene. Calculated results for source apportionment analysis suggested that contamination load was a new input of DDTs as well as the historic use of lindane in the study area. Levels of OCPs in milk and blood serum were significantly (p < 0.05) correlated with age, time period of picking cotton, and number of children. Health risk revealed that female workers had risk of cancer among 1 per million; however, noncarcinogenic risks were not considerable. Environ Toxicol Chem 2017;36:1193-1201. © 2016 SETAC.


Assuntos
Gossypium/química , Praguicidas/análise , Adolescente , Adulto , DDT/análise , DDT/sangue , Monitoramento Ambiental , Feminino , Cromatografia Gasosa-Espectrometria de Massas , Hexaclorobenzeno/análise , Hexaclorobenzeno/sangue , Humanos , Leite Humano/química , Paquistão , Praguicidas/sangue , Análise de Componente Principal , Risco , Adulto Jovem
16.
Food Sci Biotechnol ; 25(3): 811-819, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-30263340

RESUMO

Medicinal use of plants is as old as human history. Curcuma longa, Nigella sativa seeds, and Camellia sinensis have been widely used in various remedies since ages. In this study, the effect of extraction method on different bioactivities and phytochemical constituents of Curcuma longa, Nigella sativa seeds, and Camellia sinensis were evaluated and compared using single solvent system (50% ethanol). Plant extracts were prepared by percolation-assisted extraction, sonication-assisted extraction, microwave-assisted extraction, and polyphenol extraction. Following phytochemical screening, extracts were screened for antioxidant activity, antihemolytic activity, osmotic tolerance, and osmotic fragility. All plant extracts showed good phytochemical content irrespective of extraction method. However, activities in vitro antioxidant assays were dependent on plant as well as on extraction methods. Promising results were observed for antihemolytic activity against hydrogen peroxide-treated erythrocytes. Overall, Camellia sinensis exhibited the highest bioactivities followed by Curcuma longa and Nigella sativa seeds.

17.
Eur J Med Genet ; 59(8): 355-62, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27263053

RESUMO

INTRODUCTION: A multicentre study (including four cities in Pakistan) aimed to investigate the frequency and spectrum of alpha and beta thalassemia genetic mutations and XmnI polymorphism of the Gamma Globin gene. METHODS: One hundred and sixty one beta thalassemia patients, identified on the ground of haematological parameters, were screened for mutations of the Alpha (HBA2 and HBA1) and Beta (HBB) Globin genes as well as Gamma (HBG2) Globin gene, -158 Gγ XmnI polymorphism, using a combination of multiplex GAP polymerase chain reaction (PCR), Sanger sequencing and restriction fragment length polymerase (RFLP) based PCR. RESULTS: Mutations of at least one HBB gene was identified in 157 of 161 patients screened. Among 16 identified mutations in the beta gene, HBB:c.27_28insG (p. Ser10Valfs*14) was the most prevalent. α(-3.7) and α(-4.2) deletions were co-inherited with beta thalassemia mutations. Rare mutations such as HBB:c.-138C > T and HBB:c.315 + 1G > A were also identified. One novel variant (HBB:c.-148T > A), two rare mutations [HBB:c.332T > C (p.Leu111Pro); HBB:c.92G > C (p.Arg31Thr] and a novel association, HBB:c.[92G > C (p.Arg31Thr)] and [-92C > G], were reported for the first time in our study. HBG2:c.-211C > T base-pair substitution (historically described as -158 GγXmnI polymorphism) was present in 36% of the patients. CONCLUSION: Heterogeneity in clinical and haematological parameters in TM, show that monogenic disorders can present with a wide spectrum of disease severity. Our studies identified rare and novel mutations that will be useful in the prevention of highly prevalent disease of thalassemia in Pakistan following nationwide awareness campaign.


Assuntos
Mutação , Globinas beta/genética , Talassemia beta/genética , Adolescente , Adulto , Alelos , Substituição de Aminoácidos , Criança , Pré-Escolar , Índices de Eritrócitos , Feminino , Frequência do Gene , Genótipo , Humanos , Lactente , Masculino , Paquistão/epidemiologia , Fenótipo , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Vigilância da População , Adulto Jovem , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/terapia
18.
Hematol., Transfus. Cell Ther. (Impr.) ; 41(4): 316-323, Oct.-Dec. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1056238

RESUMO

ABSTRACT Background: Blood transfusion-transmitted infections in individuals suffering from beta-thalassemia have been reported in Pakistan, but the information on their sociodemographic and clinical determinants is lacking. This study aims to describe the prevalence, as well as the factors, contributing in blood transfusion-transmitted infections. Method: Between December 2011 and December 2013, in a non-probable sampling, 350 thalassemia patients were recruited in Lahore, Multan, Karachi and Peshawar, Pakistan. Subjects were screened for transfusion-transmitted infections. Results: A seropositive rate of 36.5% was observed; males (94, 73.4%) and females (34, 26.6%). Among several risk factors associated with transfusion-transmitted infections, province (p = 0.001), gender (p = 0.003), age (p < 0.03), education (p < 0.00), degree of consanguinity (p = 0.05), age at fetal blood test (p = 0.005), fetal hemoglobin levels (p = 0.005), death due to thalassemia (p = 0.001) and iron-related complications (p = 0.04) showed significant correlation. Participants with an age >10 years were significantly more prone to seropositivity than those aged ≤10 years. Moreover, the ferritin level was also significantly higher in those aged >10 years than in those ≤10 years. It was observed that males had a higher seroprevalence rate (94, 73.4%) than females (34, 26.6%). The most prevalent transfusion-transmitted infections was the hepatitis C virus, with 115 cases (89.8%). Conclusion: A high prevalence rate of HCV in subjects with transfusion-dependent thalassemia is linked with insufficient facilities, poor management and compromised socioeconomic status. Therefore, more multicenter studies covering cities from different regions of the country are needed in order to develop preventive measurements at the regional and national level.


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Paquistão , Talassemia , Estudos Soroepidemiológicos , Fatores de Risco , Hepacivirus , Reação Transfusional/epidemiologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA