Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 80
Filtrar
1.
Braz J Microbiol ; 54(1): 415-425, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36735199

RESUMO

In the present study, we identified and characterized 22 strains of V. anguillarum from 145 samples of mullets (Mugill cephallus) cultured in several fish farms in South Korea. They were subjected to pathogenicity tests, antimicrobial susceptibility test, and broth dilution test to detect virulence markers, antimicrobial resistance, and heavy metal resistance properties. All the isolates showed amylase and caseinase activity, followed by gelatinase (90.9%), DNase (45.5%), and hemolysis activities (α = 81.1% and ß = 18.2%). The PCR assay revealed that isolates were positive for VAC, ctxAB, AtoxR, tdh, tlh, trh, Vfh, hupO, VPI, and FtoxR virulence genes at different percentages. All the isolates showed multi-drug resistance properties (MAR index ≥ 0.2), while 100% of the isolates were resistant to oxacillin, ticarcillin, streptomycin, and ciprofloxacin. Antimicrobial resistance genes, qnrS (95.5%), qnrB (86.4%), and StrAB (27.3%), were reported. In addition, 40.9% of the isolates were cadmium-tolerant, with the presence of CzcA (86.4%) heavy metal resistance gene. The results revealed potential pathogenicity associated with V. anguillarum in aquaculture and potential health risk associated with consumer health.


Assuntos
Metais Pesados , Smegmamorpha , Vibrio parahaemolyticus , Animais , Virulência/genética , Antibacterianos/farmacologia , Farmacorresistência Bacteriana/genética , República da Coreia , Vibrio parahaemolyticus/genética
2.
Arch Microbiol ; 205(1): 36, 2022 Dec 24.
Artigo em Inglês | MEDLINE | ID: mdl-36565346

RESUMO

Bacterial biofilm formation is one of the dynamic processes, which facilitates bacteria cells to attach to a surface and accumulate as a colony. With the help of biofilm formation, pathogenic bacteria can survive by adapting to their external environment. These bacterial colonies have several resistance properties with a higher survival rate in the environment. Especially, pathogenic bacteria can grow as biofilms and can be protected from antimicrobial compounds and other substances. In aquaculture, biofilm formation by pathogenic bacteria has emerged with an increased infection rate in aquatic animals. Studies show that Vibrio anguillarum, V. parahaemolyticus, V. alginolyticus, V. harveyi, V. campbellii, V. fischeri, Aeromonas hydrophila, A. salmonicida, Yersinia ruckeri, Flavobacterium columnare, F. psychrophilum, Piscirickettsia salmonis, Edwardsiella tarda, E. ictaluri, E. piscicida, Streptococcus parauberis, and S. iniae can survive in the environment by transforming their planktonic form to biofilm form. Therefore, the present review was intended to highlight the principles behind biofilm formation, major biofilm-forming pathogenic bacteria found in aquaculture systems, gene expression of those bacterial biofilms and possible controlling methods. In addition, the possibility of these pathogenic bacteria can be a serious threat to aquaculture systems.


Assuntos
Biofilmes , Edwardsiella tarda , Animais
3.
J Obes ; 2022: 9172365, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36033432

RESUMO

Background: Current evidence regarding the association between overweight and obesity and in-hospital morbidity and mortality is inconsistent and South Asian populations are underrepresented. Methods: Data relevant to anthropometry, hospital outcomes, complications, and medical diagnoses of all acute medical admissions to the National Hospital of Sri Lanka were collected over a period of 3 months. Analysis was performed with WHO international (ICs) and Asian obesity cut-offs (ACs). Results: Sample size was 2,128 (median age: 57 years [IQR: 42, 67], males: 49.7%). High prevalence of overweight (23.5%), generalized obesity (10.4%), central obesity (28.5%), and underweight (15.4%) was observed (ICs). Patients with either generalized or central obesity had significantly higher in-hospital mortality (4.8% versus 2.5%, p = 0.031) and acute kidney injury (AKI) (3.9% versus 1.2%) (p = 0.001) compared to normal weight. With ACs, overweight and obesity prevalence increased, without any significant increment in morbidity and mortality, but median length of hospital stay was significantly reduced in patients with generalized obesity compared to normal (3 [IQR: 2, 5] versus 4 [IQR: 2, 6], p = 0.014). Infections (44.4%) and cardiovascular diseases (CVDs) (25.9%) were the most common causes of admission. Overweight and generalized obesity or central obesity were associated with increased prevalence of acute CVDs and CVD risk factors and lower prevalence of acute infections, whilst underweight showed an inverse association. Conclusion: A double burden of malnutrition and diseases were noted among hospital admissions, with obesity being a risk factor for in-hospital all-cause mortality and AKI. Overweight and obesity were associated with increased CVDs and reduced infections. Larger prospective studies are required to characterize these associations among South Asians.


Assuntos
Injúria Renal Aguda , Doenças Cardiovasculares , Índice de Massa Corporal , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade , Obesidade Abdominal , Sobrepeso , Prevalência , Fatores de Risco , Sri Lanka , Magreza
4.
BMC Med Educ ; 22(1): 521, 2022 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-35780138

RESUMO

BACKGROUND: The higher education was significantly influenced by the COVID pandemic within many developing countries, including Sri Lanka, necessitating to adopt more E-Learning opportunities. Therefore, this study was conducted to characterize the perceptions of Sri Lankan undergraduates to accept E-Learning in higher education, during the COVID crisis. METHOD: A total of 657 randomly selected undergraduates of three state universities in Sri Lanka, were recruited as the study population. Information on Socio-demographic factors, Knowledge, Attitudes and Practices on E-Learning methods were acquired using an interviewer administered questionnaire. A Probit regression model was fitted to identify the driving factors for the willingness of undergraduates to engage in E-Learning. RESULTS: Around, 80.2% of the respondents were females. Majority were residing in semi-urban areas (44.7%), followed by rural areas (39.9%). More than two third of the respondents were familiar with E-Learning and different Learning Management Systems (LMS) that facilitate E-Learning (68.9%). Majority of the respondents (73.7%) were using different E-Learning platforms, mostly 2 to 3 days per week (25.7%). Only around one third (36.4%) had received any formal training in using LMS or other E-Learning platforms. Smart phones (77.8%) were found to be the most preferred device used for E-Learning activities, followed by computers and laptops (21.3%). Meanwhile, LMS/MOODLE (45.4%), WhatsApp/Viber (33.0%) and Zoom (32.7%), were the most commonly used E-Learning platforms. The average acceptance of E-Learning methods was found to be 70.7% among Sri Lankan undergraduates during the COVID epidemic. Based on the Probit regression, nature of the residing locality (P=0.009), family income (P=0.048), academic field (P<0.001) and year (P=0.028), knowledge on Information and Communications Technology [ICT] (P=0.012), and previous training experiences on E-Learning (P<0.001) were found as significant drivers that influence the acceptance of E-Learning practices of the Sri Lankan undergraduates. CONCLUSION: Adopting E-learning into higher education sector could be recognized as a viable solution to facilitate the higher education during a crisis like COVID. However, relevant authorities in Sri Lanka should take immediate actions to empower the physical resources for E-Learning, improve the basic telecommunication infrastructure and conduct appropriate training programmes to promote E-Learning among Sri Lankan undergraduates.


Assuntos
COVID-19 , Instrução por Computador , COVID-19/epidemiologia , Estudos Transversais , Países em Desenvolvimento , Feminino , Humanos , Masculino , Pandemias , Sri Lanka/epidemiologia
5.
Calcif Tissue Int ; 109(2): 139-146, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33829290

RESUMO

This study aimed to investigate the prevalence of fractures and non-fracture injuries, including associated risk factors, in children with epilepsy prescribed antiseizure medications (ASM). A controlled, cross-sectional study was conducted in a hospital outpatient setting, comparing children with epilepsy prescribed ASMs with their non-epileptic siblings. Information was collected by questionnaire included history of fractures, non-fracture injuries and epilepsy, comorbidities and ASM use. 261 participants completed the questionnaire, 133 children with epilepsy (aged 10.7 ± 3.5 years, mean ± SD) and 128 siblings (10.1 ± 3.7 years). There were 49 non-seizure-related fractures in 34 ASM patients while prescribed ASMs, compared with 21 lifetime fractures in 15 controls, giving a 2.7 (95% CI 1.3-5.3, p = 0.007) times greater fracture prevalence in children treated with ASMs compared to healthy siblings. The rates of non-fracture injuries were similar across groups, except that concussion was more common in children taking ASMs (9.0% vs 1.6%, p = 0.026). Duration of ASM use and generalized tonic-clonic seizures (GTCS) were independent predictors of fractures (OR 1.55; 95% CI 1.03-2.31, p = 0.03; OR 2.50; 95% CI 1.05-5.94, p = 0.04, respectively). Fewer than 20% of participants and/or their families were aware that ASM use was related to bone health. Children with epilepsy treated with ASMs had a higher fracture prevalence than their sibling controls. Duration of ASM treatment and GTCS were associated with fracture risk. Longitudinal prospective studies are required to further explore risk and the direct impact of epilepsy on bone health.


Assuntos
Epilepsia , Fraturas Ósseas , Anticonvulsivantes/efeitos adversos , Criança , Estudos Transversais , Epilepsia/complicações , Epilepsia/tratamento farmacológico , Epilepsia/epidemiologia , Fraturas Ósseas/tratamento farmacológico , Fraturas Ósseas/epidemiologia , Humanos , Estudos Prospectivos , Convulsões/tratamento farmacológico , Convulsões/epidemiologia
6.
Lett Appl Microbiol ; 73(2): 176-186, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33891720

RESUMO

Aeromonas spp. are associated with seafood-related outbreaks worldwide. In seafood industry, shellfish play a major role in global seafood production. With this emerging trend of shellfish consumption, shellfish-related bacterial infections are being reported frequently. Aeromonas spp. are natural contaminants found in shellfish. Although 36 species have been identified, some species including Aeromonas hydrophila, Aeromonas caviae and Aeromonas veronii biotype sobria have dragged major attention as foodborne pathogenic bacteria. The ability to elaborate a variety of virulence factors of Aeromonas spp. contributes to the pathogenic activities. Also, emerging antimicrobial resistance in Aeromonas spp. has become a huge challenge in seafood industry. Furthermore, multidrug resistance increases the risk of consumer health. Studies have supplied pieces of evidence about the emerging health risk of Aeromonas spp. isolated from seafood. Therefore, the present review was intended to highlight the prevalence, virulence and antimicrobial resistance of Aeromonas spp. isolated from various types of shellfish.


Assuntos
Aeromonas/efeitos dos fármacos , Aeromonas/patogenicidade , Farmacorresistência Bacteriana , Frutos do Mar/microbiologia , Virulência , Aeromonas caviae/efeitos dos fármacos , Aeromonas caviae/patogenicidade , Aeromonas hydrophila/efeitos dos fármacos , Aeromonas hydrophila/patogenicidade , Aeromonas veronii/efeitos dos fármacos , Aeromonas veronii/patogenicidade , Animais , Antibacterianos/farmacologia , Biofilmes , Contaminação de Alimentos , Microbiologia de Alimentos , Humanos , Prevalência , Alimentos Marinhos/microbiologia , Fatores de Virulência
7.
Phys Chem Chem Phys ; 22(22): 12532-12543, 2020 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-32452493

RESUMO

A series of highly efficient quasi-solid-state dye-sensitized solar cells (DSCs) is prepared by harnessing the binary cation effect and positive effects of the selected performance enhancers of gel-polymer electrolytes. The new electrolyte is composed of polyacrylonitrile polymer, tetra-hexylammonium iodide (Hex4NI) and KI binary salts as well as 4-tertbutylpyridine and 1-butyl-3-methylimidazolium iodide performance enhancers. The charge transport in the series of electrolytes is thermally activated and, accordingly, the temperature dependence of conductivity follows the VTF behavior. The enhancement of conductivity is observed with an increasing mass fraction of KI and decreasing mass fraction of Hex4NI, while the total mass fraction of salts in the electrolyte is kept unchanged. The highest conductivity of 3.74 mS cm-1 at ambient temperature is shown by the sample containing KI only (without Hex4NI) at all the temperatures. The effects of dielectric polarization of the electrolytes are studied by analyzing the frequency dependence of the real and the imaginary parts of the AC conductivity in detail. Appropriate and reproducible cell construction are assured by efficiencies of above 5% exhibited by all the quasi-solid-state DSCs assembled using double-layered TiO2 photo-electrodes and the new electrolyte series. Besides, highlighting the mixed cation effect, the cells with mixed salts exhibited efficiencies greater than 6%. An impressively high efficiency of 7.36% was shown by the DSC prepared with electrolyte containing 75 wt% KI and 25 wt% Hex4NI. This study reveals that the salt combination of KI and Hex4NI, which has not been reported before, is a suitable binary iodide salt mixture to prepare highly efficient DSCs. The replacement of tetra-hexylammonium ions by K+ ions improves the charge transport in the electrolyte; however, the best solar cell performance is shown by the mixed salt system with 75 wt% KI and 25 wt% Hex4NI, which is not the highest conductivity composition. Therefore, the exhibited high efficiency of 7.36% is evidently due to the binary cation effect.

8.
Ceylon Med J ; 64(2): 52-58, 2019 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-31455067

RESUMO

Introduction: Stroke is a leading disease accounting for burden of chronic NCDs especially in lower and lower-middle income (LMI) settings. Quality of Life (QOL) is considered as an important facet of determination of success of patient management. EQ-5D-3L is a generic QOL tool. It provides an index score amalgamating responses for five descriptive questions and a visual analogue scale (VAS) value. Objectives: To assess the validity and reliability of EQ-5D-3L for stroke patients in Sri Lanka, which is a LMI setting. Methods: A descriptive cross sectional study was done among 100 stroke survivors among whom 50 each were managed at an ambulatory setting and an in-ward setting. A second wave of data collection was done for reliability analysis among one half of participants. The validity of EQ-5D-3L was assesses with five a-priori hypotheses. Reliability was assessed with test-retest method and with internal consistency. Non parametric Mann Whitney U test and Spearman correlation coefficients were used in the analysis. Results: The EQ-5D index scores had significant positive correlation with SF-36 domain scores (p<0.001). The EQ-5D VAS scores had significant positive correlation with SF-36 domain scores (p<0.01). Index and VAS values of the EQ-5D were proved to be valid in known-group comparison (p<0.001). Participants reporting some kind of impairment for EQ-5D-3L dimensions had lower SF-36 domain scores. All the kappa values in the analysis of test-retest method were significant (p<0.001). For the VAS score, the Spearman correlation coefficient in test-reter analysis was 0.993 (p<0.001). Cronbach's alpha value was 0.928. Conclusions: and Recommendations EQ-5D-3L questionnaire demonstrates construct validity and a is a reliable toolin measuring QOL among stoke survivors in Sri Lanka.


Assuntos
Pobreza/psicologia , Qualidade de Vida , Acidente Vascular Cerebral/psicologia , Inquéritos e Questionários/normas , Sobreviventes/psicologia , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos Testes , Sri Lanka , Estatísticas não Paramétricas
10.
Ceylon Med J ; 63(2): 58-64, 2018 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-30064169

RESUMO

Introduction: Dengue is a mosquito-borne viral infection endemic in tropical and subtropical regions, now spreading at epidemic proportions causing a major health issue in Sri Lanka and elsewhere. No effective vaccine or a curative antiviral drug is available to prevent or treat the disease. The only way of mitigating dengue at present, is through mosquito eradication and educating the public on preventive measures which can minimizing the cycle of transfer. Objectives: A theoretical model of dengue with simple mathematics is presented to gain a quantitative understanding of the pattern of dengue outbreaks in Sri Lanka and suggest control measures. Methods: The statistics on incidence of the disease reported by the Epidemiology Unit is analyzed using the model. Despite simplicity, the model possesses explanatory and predictive capacity, enabling determination of crucial parameters. The model shows that the "infectives" increase exponentially in an outbreak, provided the number of vectors per human exceeds a threshold, illustrating not only vector eradication but measures which minimize their biting frequency and preventing prolonged survival are effective safeguards. Results: In a population consisting of 75% who are susceptible, the threshold is estimated to be 20 mosquitos per person. Conclusions: The model showed that the endemic equilibrium of the system can occur at any level. As demographic changes escalate mosquito breeding, they infect more and more susceptible people. The consequent increase in virus replication induces new strains broadening the genetic diversity of the virus and helping it to overcome the human immune response. The increasing endemicity of dengue due to this is demonstrated by the model.


Assuntos
Dengue/transmissão , Surtos de Doenças/estatística & dados numéricos , Doenças Endêmicas/estatística & dados numéricos , Modelos Teóricos , Mosquitos Vetores , Dengue/epidemiologia , Vírus da Dengue , Humanos , Incidência , Sri Lanka/epidemiologia
11.
Phys Rev Lett ; 119(6): 062301, 2017 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-28949601

RESUMO

We report the first dijet transverse momentum asymmetry measurements from Au+Au and pp collisions at RHIC. The two highest-energy back-to-back jets reconstructed from fragments with transverse momenta above 2 GeV/c display a significantly higher momentum imbalance in heavy-ion collisions than in the pp reference. When reexamined with correlated soft particles included, we observe that these dijets then exhibit a unique new feature-momentum balance is restored to that observed in pp for a jet resolution parameter of R=0.4, while rebalancing is not attained with a smaller value of R=0.2.

12.
Phys Rev Lett ; 118(1): 012301, 2017 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-28106415

RESUMO

We present the first measurement of charge-dependent directed flow in Cu+Au collisions at sqrt[s_{NN}]=200 GeV. The results are presented as a function of the particle transverse momentum and pseudorapidity for different centralities. A finite difference between the directed flow of positive and negative charged particles is observed that qualitatively agrees with the expectations from the effects of the initial strong electric field between two colliding ions with different nuclear charges. The measured difference in directed flow is much smaller than that obtained from the parton-hadron-string-dynamics model, which suggests that most of the electric charges, i.e., quarks and antiquarks, have not yet been created during the lifetime of the strong electric field, which is of the order of, or less than, 1 fm/c.

13.
Phys Rev Lett ; 116(11): 112302, 2016 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-27035295

RESUMO

We present results from a harmonic decomposition of two-particle azimuthal correlations measured with the STAR detector in Au+Au collisions for energies ranging from sqrt[s_{NN}]=7.7 to 200 GeV. The third harmonic v_{3}^{2}{2}=⟨cos3(ϕ_{1}-ϕ_{2})⟩, where ϕ_{1}-ϕ_{2} is the angular difference in azimuth, is studied as a function of the pseudorapidity difference between particle pairs Δη=η_{1}-η_{2}. Nonzero v_{3}^{2}{2} is directly related to the previously observed large-Δη narrow-Δϕ ridge correlations and has been shown in models to be sensitive to the existence of a low viscosity quark gluon plasma phase. For sufficiently central collisions, v_{3}^{2}{2} persist down to an energy of 7.7 GeV, suggesting that quark gluon plasma may be created even in these low energy collisions. In peripheral collisions at these low energies, however, v_{3}^{2}{2} is consistent with zero. When scaled by the pseudorapidity density of charged-particle multiplicity per participating nucleon pair, v_{3}^{2}{2} for central collisions shows a minimum near sqrt[s_{NN}]=20 GeV.

14.
Phys Rev Lett ; 116(13): 132301, 2016 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-27081970

RESUMO

We present the measurement of the transverse single-spin asymmetry of weak boson production in transversely polarized proton-proton collisions at sqrt[s]=500 GeV by the STAR experiment at RHIC. The measured observable is sensitive to the Sivers function, one of the transverse-momentum-dependent parton distribution functions, which is predicted to have the opposite sign in proton-proton collisions from that observed in deep inelastic lepton-proton scattering. These data provide the first experimental investigation of the nonuniversality of the Sivers function, fundamental to our understanding of QCD.

15.
Phys Rev Lett ; 116(6): 062301, 2016 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-26918982

RESUMO

We present high precision measurements of elliptic flow near midrapidity (|y|<1.0) for multistrange hadrons and ϕ meson as a function of centrality and transverse momentum in Au+Au collisions at center of mass energy √[sNN]=200 GeV. We observe that the transverse momentum dependence of ϕ and Ω v2 is similar to that of π and p, respectively, which may indicate that the heavier strange quark flows as strongly as the lighter up and down quarks. This observation constitutes a clear piece of evidence for the development of partonic collectivity in heavy-ion collisions at the top RHIC energy. Number of constituent quark scaling is found to hold within statistical uncertainty for both 0%-30% and 30%-80% collision centrality. There is an indication of the breakdown of previously observed mass ordering between ϕ and proton v2 at low transverse momentum in the 0%-30% centrality range, possibly indicating late hadronic interactions affecting the proton v2.

16.
Phys Rev Lett ; 115(22): 222301, 2015 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-26650297

RESUMO

Collisions between prolate uranium nuclei are used to study how particle production and azimuthal anisotropies depend on initial geometry in heavy-ion collisions. We report the two- and four-particle cumulants, v_{2}{2} and v_{2}{4}, for charged hadrons from U+U collisions at sqrt[s_{NN}]=193 GeV and Au+Au collisions at sqrt[s_{NN}]=200 GeV. Nearly fully overlapping collisions are selected based on the energy deposited by spectators in zero degree calorimeters (ZDCs). Within this sample, the observed dependence of v_{2}{2} on multiplicity demonstrates that ZDC information combined with multiplicity can preferentially select different overlap configurations in U+U collisions. We also show that v_{2} vs multiplicity can be better described by models, such as gluon saturation or quark participant models, that eliminate the dependence of the multiplicity on the number of binary nucleon-nucleon collisions.

17.
Phys Rev Lett ; 115(24): 242501, 2015 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-26705627

RESUMO

We report the observation of transverse polarization-dependent azimuthal correlations in charged pion pair production with the STAR experiment in p^{↑}+p collisions at RHIC. These correlations directly probe quark transversity distributions. We measure signals in excess of 5 standard deviations at high transverse momenta, at high pseudorapidities η>0.5, and for pair masses around the mass of the ρ meson. This is the first direct transversity measurement in p+p collisions.

18.
Phys Rev Lett ; 114(25): 252302, 2015 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-26197122

RESUMO

We present measurements of π(-) and π(+) elliptic flow, v(2), at midrapidity in Au+Au collisions at √[s(NN)]=200, 62.4, 39, 27, 19.6, 11.5, and 7.7 GeV, as a function of event-by-event charge asymmetry, A(ch), based on data from the STAR experiment at RHIC. We find that π(-) (π(+)) elliptic flow linearly increases (decreases) with charge asymmetry for most centrality bins at √[s(NN)]=27 GeV and higher. At √[s(NN)]=200 GeV, the slope of the difference of v(2) between π(-) and π(+) as a function of A(ch) exhibits a centrality dependence, which is qualitatively similar to calculations that incorporate a chiral magnetic wave effect. Similar centrality dependence is also observed at lower energies.

19.
J Inherit Metab Dis ; 35(1): 51-63, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22033733

RESUMO

Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We have studied, at the molecular level, PCC in 54 patients from 48 families comprised of 96 independent alleles. These patients of various ethnic backgrounds came from research centers and hospitals in Germany, Austria and Switzerland. The thorough clinical characterization of these patients was described in the accompanying paper (Grünert et al. 2012). In all 54 patients, many of whom originated from consanguineous families, the entire PCCB gene was examined by genomic DNA sequencing and in 39 individuals the PCCA gene was also studied. In three patients we found mutations in both PCC genes. In addition, in many patients RT-PCR analysis of lymphoblast RNA, lymphoblast enzyme assays, and expression of new mutations in E.coli were carried out. Eight new and eight previously detected mutations were identified in the PCCA gene while 15 new and 13 previously detected mutations were found in the PCCB gene. One missense mutation, p.V288I in the PCCB gene, when expressed in E.coli, yielded 134% of control activity and was consequently classified as a polymorphism in the coding region. Numerous new intronic polymorphisms in both PCC genes were identified. This study adds a considerable amount of new molecular data to the studies of this disease.


Assuntos
Análise Mutacional de DNA , Acidemia Propiônica/diagnóstico , Acidemia Propiônica/genética , Adolescente , Alelos , Criança , Pré-Escolar , Escherichia coli/genética , Feminino , Humanos , Lactente , Íntrons , Linfócitos/citologia , Masculino , Mutagênese , Mutação , Polimorfismo Genético , Proteínas Recombinantes/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos
20.
J Inherit Metab Dis ; 35(1): 41-9, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22134541

RESUMO

BACKGROUND: Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse. STUDY DESIGN: Twenty PA patients diagnosed through NBS were compared to 35 patients diagnosed by selective metabolic screening (SMS) prompted by clinical findings, family history, or routine laboratory test results. Clinical and biochemical data of patients from 16 metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively. Additionally, assessment of the intelligent quotient (IQ) was performed. In a second step, the number of PA patients who have died within the past 20 years was estimated based on information provided by the participating metabolic centers. RESULTS: Patients diagnosed through NBS had neither a milder clinical course regarding the number of metabolic crises nor a better neurological outcome. Among NBS patients, 63% were already symptomatic at the time of diagnosis, and <10% of all patients remained asymptomatic. Among all PA patients, 76% were found to be at least mildly mentally retarded, with an IQ <69. IQ was negatively correlated with the number of metabolic decompensations, but not simply with the patients' age. Physical development was also impaired in the majority of patients. Mortality rates tended to be lower in NBS patients compared with patients diagnosed by SMS. CONCLUSION: Early diagnosis of PA through NBS seems to be associated with a lower mortality rate. However, no significant benefit could be shown for surviving patients with regard to their clinical course, including the number of metabolic crises, physical and neurocognitive development, and long-term complications.


Assuntos
Triagem Neonatal/métodos , Acidemia Propiônica/diagnóstico , Adolescente , Áustria , Criança , Pré-Escolar , Feminino , Alemanha , Humanos , Lactente , Recém-Nascido , Testes de Inteligência , Masculino , Pacientes Ambulatoriais , Estudos Retrospectivos , Inquéritos e Questionários , Suíça
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...