scholarly journals THE FREQUENCY OF THROMBOTIC COMPLICATIONS AND FEATURES OF GENOTYPES OF POLYMORPHIC MARKERS OF HEMOSTASIS GENES IN CHILDREN WITH NONCOMPACT CARDIOMYOPATHY

Author(s):  
E. N. Basargina ◽  
M. K. Umarova ◽  
K. V. Savostyanov ◽  
Yu. V. Derevnina ◽  
I. E. Smirnov

Noncompaction cardiomyopathy (NCMP) is characterized by the anomalous myocardium structure and various types of cardiac remodeling, in some cases it is accompanied by thrombotic complications. Preconditions for thrombosis in the disease are unknown, as also there are differences in thrombosis rates between NCMP and other cardiomyopathies, similarly accompanied by the chronic heart failure and analogous remodeling phenotypes. Aim of study is to reveal the difference in the rate of thrombosis in NCMP and dilated cardiomyopathies (DCMP) in children, and to define differences in the frequency of different genotypes of polymorphic markers in an array of hemostasis genes in the two cardiomyopathies. Methods. There was executed a prospective-retrospective cohort study, included patients from the Cardiac Department of the National Scientific and Practical Center of Children's Health from October 2011 to May 2015. The presence of NCMP was established by echocardiography, alleles and genotypes of polymorphic markers of hemostasis and folate cycle genes were determined by polymerase chain reaction in real-time mode. Results. Thrombotic complications in NCMP children were observed more often than in DCMP cases. There were no differences between NCMP and DCMC patients in the frequency of the polymorphic markers c.1691G>A of the F5 gene (p=0.61) , c.20210G>A of the F2 gene (p=1.0) , c.1565T> C of the ITGB3 gene (p=0.32) , 5G(-675)4G of PLANH1 gene (p=0,52) , G(-455)A of FGB gene (p=0.82) , c.677C>T of MTHFR gene (p=0.11). Conclusion Thrombotic complications in NCMP children occur rather more often than in DCMP cases, studied polymorphic markers of the hemostasis and folate cycle genes do not cause this difference, and this requires continuation of the study.

2020 ◽  
Vol 134 (8) ◽  
pp. 717-720 ◽  
Author(s):  
MH Hussain ◽  
M Mair ◽  
P Rea

AbstractObjectiveTo evaluate the prevalence of severe acute respiratory syndrome coronavirus-2 infection in patients presenting with epistaxis to a tertiary otolaryngology unit.MethodsA prospective study was conducted of 40 consecutive patients presenting with epistaxis referred to our tertiary otolaryngology unit. A group of 40 age-matched controls were also included. All patients underwent real-time reverse transcriptase polymerase chain reaction testing for severe acute respiratory syndrome coronavirus-2. Symptoms of fever, cough and anosmia were noted in the study group.ResultsThe mean age was 66.5 ± 22.4 years in the study group. There were 22 males (55 per cent) and 18 females (45 per cent). The mean age in the control group was 66.3 ± 22.4 years (p = 0.935). There were six positive cases for severe acute respiratory syndrome coronavirus-2 (15 per cent) in the epistaxis group and one case (2.5 per cent) in the control group. The difference was statistically significant (p = 0.05).ConclusionEpistaxis may represent a presenting symptom of severe acute respiratory syndrome coronavirus-2 infection. This may serve as a useful additional criterion for screening patients.


2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Juliana Sobczyk ◽  
Sonia Jain ◽  
Xiaoying Sun ◽  
Maile Karris ◽  
Darcy Wooten ◽  
...  

Abstract Background Gastrointestinal pathogen panels (GPPs) are increasingly used to identify stool pathogens, but their impact in people with HIV (PWH) is unknown. We performed a retrospective cohort study comparing GPP and conventional stool evaluation in PWH. Methods We included all PWH who underwent GPP (Biofire Diagnostics; implemented September 15, 2015) or conventional testing, including stool culture, Clostridium difficile polymerase chain reaction testing, fluorescent smears for Cryptosporidium or Giardia, and ova and parasite exams (O&P) from 2013 to 2017. A total of 1941 specimens were tested, with 169 positive specimens detected in 144 patients. We compared result turnaround time, pathogen co-infection, antibiotic treatment, and treatment outcomes between positive specimens detected by conventional testing vs GPP. Results Overall, 124 patient samples tested positive by GPP, compared with 45 patient specimens by conventional testing. The GPP group demonstrated a higher co-infection rate (48.4% vs 13.3%; P < .001) and quicker turnaround time (23.4 vs 71.4 hours; P < .001). The GPP identified 29 potential viral infections that were undetectable by conventional stool tests. Unnecessary anti-infective therapy was avoided in 9 of 11 exclusively viral infections. Exclusively nonpathogenic parasites (n = 13) were detected by conventional stool tests, the majority of which were treated with metronidazole. There were no significant differences in clinical outcomes between groups. Conclusions In PWH, GPP implementation improved antibiotic stewardship through shorter turnaround times and detection of enteric viral pathogens.


Animals ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. 2228
Author(s):  
Kai Jin ◽  
Jing Zhou ◽  
Qisheng Zuo ◽  
Jiuzhou Song ◽  
Yani Zhang ◽  
...  

Chicken (Gallus gallus) pluripotent embryonic stem cells (ESCs) and primordial germ cells (PGCs) can be broadly applied in the research of developmental and embryonic biology, but the difference between amphoteric ESCs and PGCs is still elusive. This study determined the sex of collected samples by identifying specific sex markers via polymerase chain reaction (PCR) and fluorescence activated cell sorter (FACS). RNA-seq was utilized to investigate the transcriptomic profile of amphoteric ESCs and PGCs in chicken. The results showed no significant differentially expressed genes (DEGs) in amphoteric ESCs and 227 DEGs exhibited in amphoteric PGCs. Moreover, those 227 DEGs were mainly enriched in 17 gene ontology (GO) terms and 27 pathways according to Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Furthermore, qRT-PCR was performed to verify RNA-seq results, and the results demonstrated that Notch1 was highly expressed in male PGCs. In summary, our results provided a knowledge base of chicken amphoteric ESCs and PGCs, which is helpful for future research in relevant biological processes.


2018 ◽  
Vol 5 (10) ◽  
pp. 180870 ◽  
Author(s):  
Young Mi Kwon ◽  
Maximilian R. Stammnitz ◽  
Jinhong Wang ◽  
Kate Swift ◽  
Graeme W. Knowles ◽  
...  

Tasmanian devils have spawned two transmissible cancer clones, known as devil facial tumour 1 (DFT1) and devil facial tumour 2 (DFT2). DFT1 and DFT2 are transmitted between animals by the transfer of allogeneic contagious cancer cells by biting, and both cause facial tumours. DFT1 and DFT2 tumours are grossly indistinguishable, but can be differentiated using histopathology, cytogenetics or genotyping of polymorphic markers. However, standard diagnostic methods require specialist skills and equipment and entail long processing times. Here, we describe Tasman-PCR: a simple polymerase chain reaction (PCR)-based diagnostic assay that identifies and distinguishes DFT1 and DFT2 by amplification of DNA spanning tumour-specific interchromosomal translocations. We demonstrate the high sensitivity and specificity of this assay by testing DNA from 546 tumours and 804 normal devils. A temporal–spatial screen confirmed the reported geographic ranges of DFT1 and DFT2 and did not provide evidence of additional DFT clones. DFT2 affects disproportionately more males than females, and devils can be co-infected with DFT1 and DFT2. Overall, we present a PCR-based assay that delivers rapid, accurate and high-throughput diagnosis of DFT1 and DFT2. This tool provides an additional resource for devil disease management and may assist with ongoing conservation efforts.


2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
John Mokua Mose ◽  
John Maina Kagira ◽  
Simon Muturi Karanja ◽  
Maina Ngotho ◽  
David Muchina Kamau ◽  
...  

The detection ofToxoplasma gondiiin free-range chickens is a good indicator of possible risk to human beings. The aim of this study was to investigate the occurrence ofT. gondiiin free-range chicken using polymerase chain reaction (PCR). Brain samples from 105 free-range chickens from three administrative areas in Thika region, Kenya, were collected, DNA-extracted, and analyzed using PCR to detect presence ofT. gondii. The overall prevalence ofT. gondiiin all the three areas was 79.0% (95% CI: 70.0–86.4%) and the prevalence across the three areas was not significantly different (P=0.5088;χ2=1.354). Female chickens had higher (79.4%) prevalence than males (78.6%), although the difference was not significant (P=0.922,χ2= 0.01). However, chickens that were more than 2 years old had significantly (P=0.003;χ2= 11.87) higher prevalence compared to younger ones. The study indicates that there was a high occurrence ofT. gondiiinfection in free-range chickens from Thika region and that the infection rate is age dependent. Further studies should be carried out to determine the possible role of roaming chickens in the epidemiology of the disease among humans in the area.


2007 ◽  
Vol 01 (04) ◽  
pp. 216-221 ◽  
Author(s):  
Dilsah COGULU ◽  
Atac UZEL ◽  
Ozant ONCAG ◽  
Semiha d AKSOY ◽  
Cemal ERONAT

ABSTRACTObjectives: The aim of this study was to investigate the presence of Enterococcus faecalis in endodontic infections in both deciduous and permanent teeth by culture and polymerase chain reaction (PCR) methods.Methods: A total of 145 children aged 5-13 years old were involved in this study. The presence of E. faecalis in necrotic deciduous and permanent teeth root canals was studied using culture and polymerase chain reaction methods.Results: Among 145 molar teeth, 57% (n=83) presented necrotic asymptomatic pulp tissues and were included in this study. Culture and PCR methods detected the test species in 18 and 22 of 83 teeth involved, respectively. E. faecalis was cultured from 8 (18%) of 45 necrotic deciduous teeth and from 10 (26%) of 38 necrotic permanent teeth. PCR detection identified the target species in 10 (22%) and 12 (32%) of necrotic deciduous and permanent teeth respectively. Statistically significant difference in the presence of E. faecalis in deciduous and permanent teeth was found by culture and PCR methods (P=0.03 and 0.02, respectively). The difference in the presence of E. faecalis between two different methods was not statistically significant (P>.05).Conclusions: The results of the present study confirm that both culture and PCR methods are sensitive to detect E. faecalis in root canals. (Eur J Dent 2007;1:216-221)


2015 ◽  
Vol 77 (3) ◽  
pp. 211-214 ◽  
Author(s):  
Betsy J. Briju ◽  
Sarah E. Wyatt

Instructors often present Mendelian genetics and molecular biology separately. As a result, students often fail to connect the two topics in a tangible manner. We have adopted a simple experiment to help link these two important topics in a basic biology course, using red and white onions bought from a local grocery store. A lack of red coloration in white onions is a result of one or more mutations in the color production pathway. This mutation can be seen by the use of polymerase chain reaction (PCR) followed by gel electrophoresis. An absence of an amplified PCR product for one of the genes necessary for color production is associated with a lack of color production – an obvious trait in white onion. The students are able to “see” the difference at the DNA level between the red and white onion.


Vascular ◽  
2012 ◽  
Vol 20 (2) ◽  
pp. 88-95 ◽  
Author(s):  
S Bhargava ◽  
A Ali ◽  
R Parakh ◽  
R Saxena ◽  
L M Srivastava

Homocysteine is a sulfur-containing amino acid, which is derived from dietary methionine. Hyperhomocysteinemia has been implicated in vascular disease for over a decade now, and can be treated with B vitamins. Among its causes is polymorphism of the MTHFR gene, the most common being the cytidine to thymidine at position 677 (MTHFR C677T), which gives rise to three genotypes – normal homozygous CC, heterozygous CT and homozygous variant TT. An attempt was made to ascertain the prevalence of this MTHFR C677T in our population so that preventive measures may accordingly be instituted. Blood samples from 70 patients with vascular disease and 70 healthy controls were analyzed for plasma homocysteine levels (chemiluminescent immunoassay) and for the presence of MTHFR C677T (polymerase chain reaction analysis). Homocysteine was higher in the homozygous subjects (TT genotype) than in the heterozygous (CT genotype). In patients, the frequency of the C allele was significantly lower, and that of the T allele was significantly higher than the corresponding frequencies in controls. In conclusion, the North Indian urban population has higher homocysteine levels associated with the TT genotype. Hence, instituting measures towards reduction of homocysteine levels in the population would probably reduce the incidence and morbidity of vascular disease in our population.


2000 ◽  
Vol 11 (5) ◽  
pp. 324-326 ◽  
Author(s):  
G Johannisson ◽  
Y Enström ◽  
G-B Löwhagen ◽  
V Nagy ◽  
K Ryberg ◽  
...  

Two hundred and thirty-three men and 85 women visiting STD clinics in western Sweden between April 1997 and March 1998 were examined for Mycoplasma genitalium and Chlamydia trachomatis. The bacteria were identified by the polymerase chain reaction (PCR) technique. Three women (3.5%) and 18 men (7%) were positive for M. genitalium. Seventeen (14%) of the 115 men with urethritis were infected but only one of the men was without urethritis. After treatment with tetracyclines for 10 days, one woman and 8 of the 13 men still harboured M. genitalium. M. genitalium-infected men did not have more life-time partners than other men visiting STD clinics. More men positive for M. genitalium gave a history of previous urethritis but the difference was not significant.


1999 ◽  
Vol 123 (3) ◽  
pp. 469-474 ◽  
Author(s):  
A. PÖNKÄ ◽  
L. MAUNULA ◽  
C-H. von BONSDORFF ◽  
O. LYYTIKÄINEN

In April 1988, an outbreak of gastroenteritis occurred among employees in a large company in Helsinki, Finland. A retrospective cohort study, using a self-administered questionnaire, was carried out to ascertain the cause and extent of the outbreak. To meet the case definition, employees had to have had diarrhoea and/or vomiting since 2 April, 1998. A subanalysis was made in the biggest office, consisting of 360 employees, of whom 204 (57%) completed the questionnaire. Of these 108 (53%) met the case definition. Employees who had eaten raspberry dressing were more likely to meet the case definition than those who had not (Attack Rate (AR) 65% versus AR 18% Relative Risk, (RR) 3·7, 95%, Confidence Intervals (CI) 2·0–6·7). Four stool specimens obtained from affected kitchen staff who had all eaten the raspberry dressing and who had all become ill simultaneously with the employees were positive by polymerase chain reaction (PCR) for calicivirus. The data suggest that the primary source of the outbreak was imported frozen raspberries contaminated by calicivirus.


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