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1.
Braz. j. biol ; 842024.
Artículo en Inglés | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469306

RESUMEN

Abstract Petroleum water soluble fraction (WSF) impairs organisms, but damages may vary among cell and tissue levels. The aim of the present study was to evaluate the acute (24 h, 48 h, 72 h) and subchronic effects (36 days) of WSF (0%, 25% and 100%) in juveniles of the Neotropical top predator fish Hoplias aff. malabaricus. The effects of WSF were evaluated at a molecular level using the comet assay and micronucleus test for genome damage; and at a morphological level through histological identification of liver pathologic lesions. In both acute and subchronic exposure we found low levels of DNA damage ( 10% of comet tail) and non-significant frequency of micronucleus in WSF exposed fish. The most significant liver lesions in WSF exposed fish were fatty vacuolization, hypertrophy and focal necrosis. Since these tissue injuries were progressive and persistent, their irreversibility may negatively affect fish recruitment, even in a such resistant top predator.


Resumo A fração solúvel de petróleo (WSF) prejudica os organismos, porém os danos podem variar entre os níveis celular e tecidual. O objetivo do presente estudo foi avaliar o efeito agudo (24 h, 48 h e 72 h) e subcrônico (36 dias) da WSF (0%, 25% e 100%) em juvenis do peixe neotropical predador topo Hoplias aff. malabaricus. Os efeitos da WSF foram avaliados no nível molecular utilizando o ensaio do cometa e o teste do micronúcleo para o dano genômico e no nível morfológico através da identificação histológica de lesões patológicas no fígado. Em ambas exposições (aguda e subcrônica) encontramos baixos níveis de dano no DNA ( 10% de DNA na cauda do cometa) e frequência de micronúcleos não significativa em peixes expostos a WSF. As lesões mais significativas no fígado dos peixes expostos a WSF foram a vacuolização lipídica, hipertrofia e focos de necroses. Como estas lesões foram progressivas e persistentes, sua irreversibilidade pode afetar negativamente o recrutamento dos peixes, mesmo sendo um predador topo resistente.

2.
Braz. j. biol ; 84: e253731, 2024. tab, graf
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-1355871

RESUMEN

Abstract Petroleum water soluble fraction (WSF) impairs organisms, but damages may vary among cell and tissue levels. The aim of the present study was to evaluate the acute (24 h, 48 h, 72 h) and subchronic effects (36 days) of WSF (0%, 25% and 100%) in juveniles of the Neotropical top predator fish Hoplias aff. malabaricus. The effects of WSF were evaluated at a molecular level using the comet assay and micronucleus test for genome damage; and at a morphological level through histological identification of liver pathologic lesions. In both acute and subchronic exposure we found low levels of DNA damage (< 10% of comet tail) and non-significant frequency of micronucleus in WSF exposed fish. The most significant liver lesions in WSF exposed fish were fatty vacuolization, hypertrophy and focal necrosis. Since these tissue injuries were progressive and persistent, their irreversibility may negatively affect fish recruitment, even in a such resistant top predator.


Resumo A fração solúvel de petróleo (WSF) prejudica os organismos, porém os danos podem variar entre os níveis celular e tecidual. O objetivo do presente estudo foi avaliar o efeito agudo (24 h, 48 h e 72 h) e subcrônico (36 dias) da WSF (0%, 25% e 100%) em juvenis do peixe neotropical predador topo Hoplias aff. malabaricus. Os efeitos da WSF foram avaliados no nível molecular utilizando o ensaio do cometa e o teste do micronúcleo para o dano genômico e no nível morfológico através da identificação histológica de lesões patológicas no fígado. Em ambas exposições (aguda e subcrônica) encontramos baixos níveis de dano no DNA (< 10% de DNA na cauda do cometa) e frequência de micronúcleos não significativa em peixes expostos a WSF. As lesões mais significativas no fígado dos peixes expostos a WSF foram a vacuolização lipídica, hipertrofia e focos de necroses. Como estas lesões foram progressivas e persistentes, sua irreversibilidade pode afetar negativamente o recrutamento dos peixes, mesmo sendo um predador topo resistente.


Asunto(s)
Animales , Contaminantes Químicos del Agua/toxicidad , Petróleo/toxicidad , Characiformes , Agua Dulce , Hígado
3.
Artículo | IMSEAR | ID: sea-225773

RESUMEN

Background:Pulmonary artery hypertension (PAH) dreadful complication in bronchiectasis. The 6thworld symposium on pulmonary hypertension have taken mPAPof 20 mmHg as normal. Not much studies have been done based on the current cut off values, so we have incorporated values based on the new guidelines and made following observations. Methods: Thisstudy was designed as an observational cross-sectional study consisting of 27 patients, who were admitted in Pulmonary medicine department. Results:Out of 27 study subjects 15 were female抯 and 12 were males. It was found that 70.3% had less than 5 segments involved and 29.6% had more than 5 segments involved. Mean value of PAH was 34.48�.06 mmHg. Analysis showed a significant correlation (r=0.67) between number of segments involved and incidence of pulmonary hypertension. Conclusions: Itis essential to evaluate the cardiac status of bronchiectasis patients at the time of diagnosis as cardiac manifestations are one of the dreadful complications.

4.
Indian Heart J ; 2022 Feb; 74(1): 34-39
Artículo | IMSEAR | ID: sea-220921

RESUMEN

Background: Short term outcomes of patients with pulmonary hypertension are not available from low and middle-income countries including India. Methods: We conducted a prospective study of 2003 patients with pulmonary hypertension, from 50 centres (PROKERALA) in Kerala, who were followed up for one year. Pulmonary hypertension (PH) was mainly diagnosed on the basis of Doppler echocardiography. The primary outcome was a composite endpoint of all-cause death and hospital admission for heart failure. All cause hospitalisation events constituted the secondary outcome. Results: Mean age of study population was 56 ± 16 years. Group 1 and Group 2 PH categories constituted 21.2% and 59% of the study population, respectively. Nearly two-thirds (65%) of the study participants had functional class II symptoms. 31% of Group 1 PH patients were on specific vasodilator drugs.In total, 83 patients (4.1%) died during the one-year follow-up period. Further, 1235 re-hospitalisation events (61.7%) were reported. In the multivariate model, baseline NYHA class III/IV (OR 1.87, 95% C.I. 1.35e2.56), use of calcium channel blockers (OR 0.18, 95% C.I. 0.04e0.77), vasodilator therapy (OR 0.5, 95% C.I. 0.28e0.87) and antiplatelet agents (OR 1.80, 95% C.I. 1.29e2.51) were associated with primary composite outcome at one-year (p < 0.05). Conclusion: In the PROKERALA registry, annual mortality rate was 4%. More than half of the patients reported re-hospitalisation events on follow up. Uptake of guideline directed therapies were suboptima

5.
Journal of Environmental and Occupational Medicine ; (12): 659-664, 2022.
Artículo en Chino | WPRIM | ID: wpr-960461

RESUMEN

Background The incidence rate of missed abortion is increasing year by year, but the etiology has not been fully elucidated. Adverse pregnancy history and exposure to polycyclic aromatic hydrocarbons (PAHs) may increase the risk of missed abortion. Objective To investigate the interaction between adverse pregnancy history and PAHs exposure on missed abortion in early pregnancy, and to provide evidence for the etiologic research of missed abortion. Methods A total of 114 pregnant women diagnosed with missed abortion in the Department of Obstetrics of the First Hospital of Shanxi Medical University from March to December 2019 were selected as the case group, and 139 pregnant women who visited the same hospital for voluntary induced abortion in the same period as the control group, to collect basic information and medical information of abortion, stillbirth, intrauterine growth retardation, and other adverse pregnancy history. Abortion villus tissues were collected to detect PAH-DNA adducts levels, stratified by pregnancy and adverse pregnancy history and grouped by quartile method: Q1 (< 404.61 ng·L−1), Q2 (404.61−453.75 ng·L−1), Q3 (453.76−506.72 ng·L−1), and Q4 (≥506.73 ng·L−1). SPSS 25.0 statistical software was used for χ2 test and multiple logistic regression, and additive and multiplicative models were used to investigate the interaction between adverse pregnancy history and PAH-DNA adducts level on missed abortion. The PAH-DNA adducts were grouped by tertiles and quartiles, and P33, P50, P67 and P75 were used as data cut points for sensitivity analysis. Results The proportion of adverse pregnancy history in the case group (32.46%) was higher than that in the control group (12.23%) (P < 0.001). Among 160 subjects with≥2 pregnancies, the proportion of adverse pregnancy history in the case group (57.81%) was higher than that in the control group (17.71%) (P < 0.001). The results of χ2 test stratified by pregnancy for different PAH-DNA adducts levels between the two groups showed that the PAH-DNA adducts level was associated with missed abortion in subjects with≥2 pregnancies (χ2=10.14, P=0.017). Being further stratified by adverse pregnancy history, the PAH-DNA adducts level in subjects with no adverse pregnancy history was associated with missed abortion (χ2=9.70, P=0.021). The results of logistic regression analysis showed that adverse pregnancy history (OR=5.88, 95%CI: 2.79−12.39) and PAH-DNA adducts (OR=3.01, 95%CI: 1.22−7.40) increased the risk of missed abortion, but no interaction between them was found. The relative excess risk of interaction (RERI), the attributable percentage of interaction (AP), and the synergy index (SI) and its 95%CI were 0.60 (95%CI: −0.58−1.77), 0.74 (95%CI: −0.83−2.30), and 0.20 (95%CI: 0.01−5.43), respectively. Conclusions Adverse pregnancy history and PAH-DNA adducts in pregnant women may increase the risk of missed abortion. The effect of the interaction between them on the occurrence of missed abortion is not supported by the current study.

6.
J. inborn errors metab. screen ; 9: e20210017, 2021. tab
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1346432

RESUMEN

Abstract Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to evaluate the effect of diet and exercise on bone mineral density (BMD). Sample size of the study population was 27. Enrolled patients underwent multi-site Dual-energy X-ray absorptiometry (DXA) scan and laboratory tests. Nutritional and physical activity records were obtained on each subject to ascertain bone health. BMD in patients with PKU was low normal. 14% of the study subjects were found to have osteoporosis in at least one measured skeletal site. 70% had low BMD in one or more of the measured skeletal sites. BMD score was lowest at radius. Moderate correlation was observed between femoral and radial BMD and serum calcium level. Dietary intake of vitamin A was moderately correlated with BMD T-scores in femur. Our results indicate that BMD in patients with PKU is low normal with better BMD with vitamin A intake, trend towards better bone health with physical exercise and Sapropterin intake.

7.
Journal of Medical Biomechanics ; (6): E276-E283, 2020.
Artículo en Chino | WPRIM | ID: wpr-862381

RESUMEN

Objective Hemodynamic disorder of the pulmonary artery (PA) is the main cause of pulmonary arterial hypertension related to congenital heart disease (PAH-CHD). To study the hemodynamic characteristics of PA, so as to understand biomechanical factors in the occurrence and development of PAH-CHD. Methods Clinical and imaging data were collected in five PAH-CHD patients and five matched controls (Non-PAH) to reconstruct subject-specific three-dimensional (3D) PA models. Computational fluid dynamics (CFD) was performed to compare the hemodynamic difference of flow patterns, wall shear stress (WSS) and normalized energy loss (E·) in the two groups. Results Hemodynamics-related parameters showed that the velocity and WSS were higher in the left and right PA branches of PAH-CHD patients, with significantly lower WSS in the main PA. The E· significantly increased in PAH-CHD patients and positively correlated with normalized PA diameter and inflow. Conclusions Compared with Non-PAH subjects, PAH-CHD patients have obviously higher velocity and WSS in PA branches, lower WSS in main PA and greater E·, indicating these hemodynamic parameters are related with the PAH-CHD, which can be used as potential biomechanical factors for the clinical evaluation of PAH-CHD.

8.
Acta Pharmaceutica Sinica B ; (6): 2075-2109, 2020.
Artículo en Inglés | WPRIM | ID: wpr-881100

RESUMEN

In many ways, cancer cells are different from healthy cells. A lot of tactical nano-based drug delivery systems are based on the difference between cancer and healthy cells. Currently, nanotechnology-based delivery systems are the most promising tool to deliver DNA-based products to cancer cells. This review aims to highlight the latest development in the lipids and polymeric nanocarrier for siRNA delivery to the cancer cells. It also provides the necessary information about siRNA development and its mechanism of action. Overall, this review gives us a clear picture of lipid and polymer-based drug delivery systems, which in the future could form the base to translate the basic siRNA biology into siRNA-based cancer therapies.

9.
Artículo | IMSEAR | ID: sea-189282

RESUMEN

Patterns and prevalence of Paediatric PAH have not been characterized in our local population. Aims & Objectives: To study the clinico-echocardiographic profile of children diagnosed as pulmonary arterial hypertension (PAH). Methods: The study was a prospective non-randomized study conducted .The study group included all the children in the age group of 0-15 years who were diagnosed as pulmonary arterial hypertension on Transthoracic Doppler Echocardiography. Detailed history, examination besides other investigations including Chest X ray, complete blood counts, ABG analysis, ECG, screening for connective tissue disorders and HIV, PBF, LFT, KFT were done as per standard guidelines. Results: The total number of admissions during the study period were 22150.Total number of PAH cases were 40. PAH case represented 0.18% of the total admissions. Mean age at the time of diagnosis was 7.3 months, 23 (57.5%) of the PAH patients were females whereas 17 (42.5%) were males. The most common clinical features were irritability (82.5%), tachypnea (75%), cyanosis (70%) followed by poor feeding (65%), features of right heart failure (35%) and syncope (5%). Idiopathic PAH constituted 42.5% of the study group, whereas 50% of the PAH cases were associated with CHD. 7.5% cases were diagnosed as PPHN. The mean systolic Pulmonary Artery Pressure in the study group was 63.17 mmHg. Most of the cases had severe PAH (65%), whereas moderate and mild PAH cases were 25% and 10% respectively. Conclusion: In view of relatively higher incidence of idiopathic PAH observed in this study in children of Kashmir, further studies are needed to identify the role of possible genetic and familial factors.

10.
Artículo | IMSEAR | ID: sea-202215

RESUMEN

Introduction: Outcome of paediatric PAH has not beenstudied in our population. Current study aimed to see theoutcome of children over a study period of one year who werediagnosed as pulmonary arterial hypertension.Material and Methods: Study was done on all children0-15 years age diagnosed with PAH on TransthoracicEchocardiography with systolic pulmonary artery pressure(sPAP) of >35 mmHg. Only Group 1 PAH (WHO) wereincluded and were followed for 1 year. Various clinical andechocardiographic variables affecting outcome were noted.Results: Total number of PAH cases were 40. Mean ageat the time of diagnosis was 7.3 months. 23 (57.5%) of thePAH patients were females whereas 17 (42.5%) were males.Idiopathic PAH constituted 42.5% of the study group, whereas50% of the PAH cases were associated with CHD. 7.5% caseswere diagnosed as PPHN Out of the total of 40 cases studied10 patients died representing 25% mortality over 1 year.Conclusion: Paediatric PAH is associated with high mortalityin our population.Those having Right heart failure and RightVentricular Dysfunction need close follow up.

11.
Artículo | IMSEAR | ID: sea-203168

RESUMEN

Background: The development of pulmonary hypertension i.e.mean pulmonary artery pressure (mPAP) above 25 mmHg withnormal capillary wedge pressure and pulmonary vascularresistance(PVR) above 240 dyn/s/cm−5 in association withelevated pressure in portal circulation is known asportopulmonary hypertension (POPH). Comparing withidiopathic PAH, patients with POPH have a worst survivalprofile, with a 3-year survival of only 38% versus78% foridiopathic PAH. Recent evidence from France shows thatPOPH is the fourth most common form of PAH reported overallin the population-based French National Registry, afteridiopathic PAH and PAH associated with connective tissuediseases and con- genital heart disease. The aim of this studyis to evaluate frequency of POPH in portal hypertensivepatient.Materials and Methods: A cross sectional study of patientadmitted in RIMS, medicine department was performedfulfilling features of portal hypertension with ultrasoundshowing splenomegaly, ascites, portal vein diameter more than13 mm, portal vein velocity less than 15 cm/s and uppergastrointestinal endoscopy showing esophageal varices andpatient with connective tissue disease, congenital heartdisease, left ventricular systolic or diastolic dysfunction,valvular heart disease, lungs disease, sleep related breathingdisorder, chronic hemolytic and myeloproliferative disorderwere excluded. All patient underwent screening withechocardiography for measuring pulmonary artery systolicpressure (PASP) and PASP more than 35 mmHg wereconsidered for POPH which was confirmed with right heartcatheterisation by measuring mean pulmonary artery pressure(mPAP) of more than 25 mmHg.Observation: Among forty-two patient in this study, there werethirty-three male patients and nine female patients. POPH wasseen three female and two male patients with total of five out offorty- two with prevalence of 11.9% out of which 7.1% werefemale and 4.8% were male.Conclusion: Portopulmonary hypertension prevalence is 2–6%. In this study pulmonary hypertension is significantly high inportal hypertensive patient with percentage of 11.9% and moreprevalent in female.

12.
Chinese Journal of Practical Internal Medicine ; (12): 960-962, 2019.
Artículo en Chino | WPRIM | ID: wpr-816134

RESUMEN

Pulmonary hypertension(PH)has been defined as mean pulmonary arterial pressure(mPAP)≥25 mmHg at rest,measured by right heart catheterisation. The 6 th WSPH suggested a new pressure level to define an abnormal elevation as the mPAP>20 mmHg and the need for PVR≥3 WU to define the presence of pre-capillary PH. Regarding clinical classification,the main changes were the inclusion in group 1 of a subgroup“pulmonary arterial hypertension(PAH)long-term responders to calcium channel blockers”and a subgroup“PAH with overt features of venous/capillaries involvement“.

13.
Artículo | IMSEAR | ID: sea-184994

RESUMEN

The incidence of PAH in CMPD is unknown. When present, PAH in CMPD may be attributed to thrombo–embolism, which is a known complication of CMPD. CMPD and unexplained PAH has been reported in few case reports or few studies with limited cases. Pathophysiology may be related to pulmonary capillary obstruction from increased cellular components, platelet activation and aggregation, micro thrombose formation and stasis. We present the case of a middle aged lady with no previous co–morbidity, who presented with polycythaemia and biventricular failure. Evaluation revealed PAH with no evidence of pulmonary thrombo–embolism. Haematocrit, Serum erythropoietin assay and bone marrow analysis suggested polycythaemia vera. Unexplained PAH in CMPD is discussed.

14.
Artículo | IMSEAR | ID: sea-193919

RESUMEN

Background: Pulmonary Artery Hypertension (PAH) is defined as mean pulmonary artery pressure greater than 25 mmHg at rest as assessed by Right heart catheterization. 1 PAH secondary to lung disease is categorized under Group 3 PAH according to WHO classification, the major causes being COPD, ILD, OSA etc. Only few studies have analyzed the clinico-radiological profile, severity, morbidity and mortality associated with group 3 PAH. Hence this study was undertaken to study the clinic-radiological and functional profile of patients with group 3 pulmonary hypertension and to correlate grade of PAH with six-minute walk distance (6MWD) and Dyspnoea grading by modified Medical Research Council (mMRC). Primary objective was to correlate grade of PAH with 6MWD and dyspnoea grading (mMRC) in group 3 pulmonary artery hypertension. Secondary objective was to study the clinic- radiological and functional profile of patients with group 3 pulmonary hypertension in a tertiary care centre.Methods: Seventy two patients diagnosed to have PAH by 2D ECHO with underlying lung disease were retrospectively analyzed in Department of Respiratory Medicine, Chettinad Hospital and Research Institute, Chennai. Their demographic data, clinical history, examination, Dyspnoea according to MMRC grading, Chest X ray, CT chest, ECG, 2D ECHO (using VIVID 5), PFT (Easy on PC 2700-1-01. EOPC SN 219295, ATS guidelines), six minute walk test (ATS guidelines) and other Special investigations like CT Pulmonary Angiogram, Polysomnography were included wherever necessary.Results: Out of the 72 patients with group 3 PAH 44.4% belong to the age group of 46-65 years with a mean age of 57.59�.6 years along with a slight male preponderance. The commonest cause being COPD (27.7%) followed by ILD (15.30%) and Bronchiectasis (5.50%) and the combined etiology contributing to 48.8%. There was a statistically significant positive correlation between grade of PAH and mMRC score (p< 0.05) and significant negative correlation between grade of PAH with 6MWD and FEV1 (p <0.05).Conclusions: This study shows that Simple bed side tools like 6MWD and mMRC score can be used for the evaluation of presence and severity of Group 3 PAH.

15.
Artículo | IMSEAR | ID: sea-185300

RESUMEN

Background: Pulmonary artery hypertension (PAH) is the most common cause of right heart failure and right ventricular dysfunction(RVD). Portopulmoanry hypertension (POPH) is a form of pulmonary arterial hypertension (PAH) associated with portal hypertension with or without underlying chronic liver disease leading to right venricular dysfunction. The aim of this study is to evaluate prevalence of right ventricular dysfunction and its association with pulmonary artery hypertension, body mass index(BMI), systemic hypertension and smoking. Material and methods: This is a cross-sectional observation study, it was conducted on 84 patients with portal hypertension. Trans-thoracic echocardiography was done for calculation of PASP (pulmonary artery systolic pressure) and TAPSE(tricuspid annulus plane systolic excursion), TDI( tissue doppler imaging) S’ for RVD. Observation: Prevalence of RVD was was 14.28%%, in male it was 15.6% and female it was 20.0%. Sex was insignificant in RVD with p value of 0.74. Mean age of POPH patients were 53.33+ 8.3 year, age was insignificant with p-value 0.86. BMI,hypertension and PAH was found significant in RVD patients with p- value of 0.01, 0.008 and 0.0001 respectively. Smoking was insignificant (P-0.971). Conclusion:There is association of right ventricular dysfunction with pulmonary hypertension in portal hypertensive patients.

16.
Basic & Clinical Medicine ; (12): 604-609, 2018.
Artículo en Chino | WPRIM | ID: wpr-693950

RESUMEN

Objective To investigate the phenotypic and functional differences of endothelial cells derived from in -duced pluripotent stem cells(iPSC-ECs)between HPAH patient(HPAH)and control donor(CON),and clarify the molecular mechanism of phenotypic changes in BMPRII deficient ECs which is a pathological characteristic of PAH.Methods To differentiate the iPSCs derived from human pulmonary arterial smooth muscle cells (hPASMCs)into ECs.The expression of several genes related to stem cell and endothelial marker were analyzed at different time points during the differentiation.Immunofluorescence staining showed the expression of surface mark-ers of iPSC-ECs.The transcription factors involved in the EndoMT process were detected by real -time quantitative PCR(qPCR).HPAH and CON-derived iPSC-ECs were compared for tube formation.VEGFR2 mRNA and protein expression were detected by qPCR and immunofluorescence staining.Results The expression of several endothelial cell related genes of HPAH were different from CON during differentiation through they both expressed pluripotency genes.The expressions of α-SMA,HMGA1,Slug and Snail1 in HPAH iPSC-ECs were significantly higher as com-pared with CON ECs(P<0.05).The reduced tube formation of HPAH-derived ECs could be rescued by VEGF165.Their VEGFR2 mRNA and protein expression were lower as compared with CON ECs.Conclusions Enhanced HMGA1,Slug and Snail1 involve in the EndoMT of iPSC-ECs from HAPH,reduced VEGFR2 may con-tribute to tube formation dysfunction in pulmonary vascular remodeling of PAH.

17.
Chinese Journal of Laboratory Medicine ; (12): 312-315, 2018.
Artículo en Chino | WPRIM | ID: wpr-712149

RESUMEN

Objective To provide genetic counselling for a pregnant with phenylketonuria(PKU) family history.To provide prenatal diagnosis for the pregnant of the pedigree,followed by identifying of the pathogenic mutation of the proband and the genotype of the other family members.Methods Sanger sequencing was performed to detect the phenylalanine hydroxylase(PAH)gene pathogenic mutation of the patient.Both sequencing and haplotype of the short tandem repeats(STR)site in intron 3 were analyzed for the fetus, whose mother was the aunt of the patient.Results Compound heterozygote mutation of PAH gene,IVS4-1G>A /c.770G>T was identified for the proband,which inherited from his father and mother respectively.The aunt of the patient was a carrier of the IVS 4-1G>A heterozygote mutation,whose husband was identified c.827T>A heterozygote mutation.Prenatal diagnosis disclosed that the fetus inherited the paternal c.827T >A mutation, and the haplotype of the PAH gene was different from the patient. Conclusion According to the counselling of autosomal recessive disorder,for the partner of a carrier,it is suggested that mutation detection should be performed to exclude the possibility of being a carrier too, and then the risk of the offspring can be evaluated precisely.(Chin J Lab Med,2018,41:312-315)

19.
Braz. j. microbiol ; 48(2): 314-325, April.-June 2017. tab, graf
Artículo en Inglés | LILACS | ID: biblio-839384

RESUMEN

Abstract This study was conducted to investigate the occurrence of PAH degrading microorganisms in two river systems in the Western Cape, South Africa and their ability to degrade two PAH compounds: acenaphthene and fluorene. A total of 19 bacterial isolates were obtained from the Diep and Plankenburg rivers among which four were identified as acenaphthene and fluorene degrading isolates. In simulated batch scale experiments, the optimum temperature for efficient degradation of both compounds was determined in a shaking incubator after 14 days, testing at 25 °C, 30 °C, 35 °C, 37 °C, 38 °C, 40 °C and 45 °C followed by experiments in a Stirred Tank Bioreactor using optimum temperature profiles from the batch experiment results. All experiments were run without the addition of supplements, bulking agents, biosurfactants or any other form of biostimulants. Results showed that Raoultella ornithinolytica, Serratia marcescens, Bacillus megaterium and Aeromonas hydrophila efficiently degraded both compounds at 37 °C, 37 °C, 30 °C and 35 °C respectively. The degradation of fluorene was more efficient and rapid compared to that of acenaphthene and degradation at Stirred Tank Bioreactor scale was more efficient for all treatments. Raoultella ornithinolytica, Serratia marcescens, Bacillus megaterium and Aeromonas hydrophila degraded a mean total of 98.60%, 95.70%, 90.20% and 99.90% acenaphthene, respectively and 99.90%, 97.90%, 98.40% and 99.50% fluorene, respectively. The PAH degrading microorganisms isolated during this study significantly reduced the concentrations of acenaphthene and fluorene and may be used on a larger, commercial scale to bioremediate PAH contaminated river systems.


Asunto(s)
Bacterias/aislamiento & purificación , Bacterias/metabolismo , Ríos/microbiología , Fluorenos/metabolismo , Acenaftenos/metabolismo , Sudáfrica , Temperatura , Bacterias/clasificación , Biotransformación
20.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 860-865, 2017.
Artículo en Chino | WPRIM | ID: wpr-668550

RESUMEN

[Objective]To estimate the clinical value of serum high mobility group box 1(HMGB1) as a biomarker of idiopathic pulmonary arterial hypertension (IPAH).[Methods]This study included 33 patients with IPAH that were confirmed by right heart catheter in the Second Xiangya Hospital, Central South University from May 2011 to April 2015. 8 patients with IPAH were followed up for 6 months during treating with PAH-specific pharmacotherapies. All the subjects ' clinical data were collected,HMGB1 levels were determined by enzyme linked immunosorbent assay(ELISA).[Results]Serum HMGB1 levels (ng/mL) were significantly increased in patients with IPAH compared with the control group(14.8 ± 2.4 vs. 3.8 ± 1.2, P<0.001);The serum HMGB1 levels were significant?ly positive correlation with mean pulmonary arterial pressure(MPAP) and pulmonary vascular resistauce (PVR) ( r=0.864, P<0.001; r=0.460,P=0.002) in the patients with IPAH. After treating with PAH-specific pharmacotherapies for 6 month, HMGB1 levels(ng/mL) were significantly decreased(15.9±5.3 vs 11.1±2.5,P=0.021)along with the patients'MPAP(62.3±9.7 vs 54.0±8.7,mmHg)and 6-min walk distances(m)improved(368±69 vs 401±55,P<0.001).[Conclusions]Our study suggested that serum HMGB1 may be used as a biomarker of treatment response to targeted therapy, and it will be used as a biomarker in the follow-up evaluation of patients with IPAH.

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