RELATIONSHIP BETWEEN RFC GENE VARIANTS (RS1051266) AND CLINICAL FEATURES OF SEVERE INTRAVENTRICULAR HEMORRHAGE IN PRETERM INFANTS

The physiological function of the RFC gene is to ensure the processes of intracellular folic acid transport that are extremely important not only for the processes of reproduction, but also for the embryonic develop-ment of a growing foetus. The aim of this study is to investigate the association between the RFC (G80A, rs1051266) gene variants and the features of the neonatal course in premature infants with severe intraven-tricular haemorrhage. Materials and methods. The study included 24 preterm infants with severe intraven-tricular haemorrhages that received standard clinical, laboratory and instrumental examination. Determina-tion of RFC gene variants was performed using the polymerase chain reaction- restriction fragment length polymorphism method. Results. The following frequencies of genotypes were determined according to the G80A variant of the RFC gene: GG – 8 (33.3%), GA – 9 (37.5%) and AA – 7 (29.2%) in the study group. Children with the A allele of the RFC gene had an increased risk of developing hypertension and a higher mean concentration of ionized calcium. Preterm infants with the A allele were more likely to require oxygen therapy with maximum oxygen concentration and in the presence of this allele in a homozygous state (AA genotype) required nCPAP and non-invasive mechanical ventilation. Conclusion. The obtained results sup-port a hypothesis about the influence on variants of RFC genes on severe neonatal period in preterm infants with intraventricular haemorrhages. However, further multifaceted research in this area is required to give more ground in supporting hypothesis.

Download Full-text

DNA Repair Gene Polymorphism and the Risk of Mitral Chordae Tendineae Rupture

Disease Markers ◽

10.1155/2015/825020 ◽

2015 ◽

Vol 2015 ◽

pp. 1-6

Author(s):

Aysel Kalayci Yigin ◽

Mehmet Bulent Vatan ◽

Ramazan Akdemir ◽

Muhammed Necati Murat Aksoy ◽

Mehmet Akif Cakar ◽

...

Keyword(s):

Dna Repair ◽

Fragment Length Polymorphism ◽

Control Group ◽

Chordae Tendineae ◽

Repair Gene ◽

Repair Capacity ◽

Dna Repair Capacity ◽

Dna Repair Gene ◽

Increased Risk ◽

Polymerase Chain

Polymorphisms in Lys939Gln XPC gene may diminish DNA repair capacity, eventually increasing the risk of carcinogenesis. The aim of the present study was to evaluate the significance of polymorphism Lys939Gln in XPC gene in patients with mitral chordae tendinea rupture (MCTR). Twenty-one patients with MCTR and thirty-seven age and sex matched controls were enrolled in the study. Genotyping of XPC gene Lys939Gln polymorphism was carried out using polymerase chain reaction- (PCR-) restriction fragment length polymorphism (RFLP). The frequencies of the heterozygote genotype (Lys/Gln-AC) and homozygote genotype (Gln/Gln-CC) were significantly different in MCTR as compared to control group, respectively (52.4% versus 43.2%,p=0.049; 38.15% versus 16.2%,p=0.018). Homozygote variant (Gln/Gln) genotype was significantly associated with increased risk of MCTR (OR = 2.059; 95% CI: 1.097–3.863;p=0.018). Heterozygote variant (Lys/Gln) genotype was also highly significantly associated with increased risk of MCTR (OR = 1.489; 95% CI: 1.041–2.129;p=0.049). The variant allele C was found to be significantly associated with MCTR (OR = 1.481; 95% CI: 1.101–1.992;p=0.011). This study has demonstrated the association of XPC gene Lys939Gln polymorphism with MCTR, which is significantly associated with increased risk of MCTR.

Download Full-text

Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients

BioMed Research International ◽

10.1155/2015/625981 ◽

2015 ◽

Vol 2015 ◽

pp. 1-7 ◽

Cited By ~ 3

Author(s):

Muzaffer Ilhan ◽

Bahar Toptas-Hekimoglu ◽

Ilhan Yaylim ◽

Seda Turgut ◽

Saime Turan ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Fragment Length Polymorphism ◽

Chain Reaction ◽

Vdr Polymorphism ◽

Structural Alterations ◽

Increased Risk ◽

Significant Difference ◽

Polymerase Chain ◽

Vdr Polymorphisms

Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly.Design, Patients, and Methods. 52 acromegaly patients (mean age45.7±1.9years) and 83 controls (mean age43.1±2.6years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods.Results. The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P=0.034). VDR FokI ff genotype was significantly decreased in acromegaly patients (P=0.035) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1;P=0.020). IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P=0.0049). 25(OH)D3 levels were significantly lower in acromegaly patients (P<0.001).Conclusions. Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.

Download Full-text

Interleukin-16Polymorphism Is Associated with an Increased Risk of Ischemic Stroke

Mediators of Inflammation ◽

10.1155/2013/564750 ◽

2013 ◽

Vol 2013 ◽

pp. 1-5 ◽

Cited By ~ 7

Author(s):

Xiao-li Liu ◽

Jian-zong Du ◽

Yu-miao Zhou ◽

Qin-fen Shu ◽

Ya-guo Li

Keyword(s):

Ischemic Stroke ◽

Chinese Population ◽

Fragment Length Polymorphism ◽

Chain Reaction ◽

Sequencing Method ◽

Increased Risk ◽

Pcr Rflp ◽

Polymerase Chain ◽

The Relationship ◽

Genotype And Allele Frequencies

Clinical and experimental data have demonstrated that inflammation plays fundamental roles in the pathogenesis of ischemic stroke. Interleukin-16 (IL-16) is identified as a proinflammatory cytokine that is a key element in the ischemic cascade after cerebral ischemia. We aimed to examine the relationship between theIL-16polymorphisms and the risk of ischemic stroke in a Chinese population. A total of 198 patients with ischemic stroke and 236 controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing method. We found that the rs11556218TG genotype and G allele ofIL-16were associated with significantly increased risks of ischemic stroke (TG versus TT, adjusted OR = 1.88; 95% CI, 1.15–3.07; G versus T, adjusted OR = 1.54; 95% CI, 1.05–2.27, resp.). However, there were no significant differences in the genotype and allele frequencies ofIL-16rs4778889 T/C and rs4072111 C/T polymorphisms between the two groups, even after stratification analyses by age, gender, and the presence or absence of hypertension, diabetes mellitus, hypercholesterolemia, and hypertriglyceridemia. These findings indicate that theIL-16polymorphism may be related to the etiology of ischemic stroke in the Chinese population.

Download Full-text

Association betweenTLR4andTLR9Gene Polymorphisms with Development of Pulmonary Tuberculosis in Zahedan, Southeastern Iran

The Scientific World JOURNAL ◽

10.1155/2013/534053 ◽

2013 ◽

Vol 2013 ◽

pp. 1-7 ◽

Cited By ~ 16

Author(s):

Danial Jahantigh ◽

Saeedeh Salimi ◽

Roya Alavi-Naini ◽

Abolfazl Emamdadi ◽

Hamid Owaysee Osquee ◽

...

Keyword(s):

Genetic Factors ◽

Fragment Length Polymorphism ◽

Healthy Controls ◽

Newly Diagnosed ◽

Significant Relation ◽

Chain Reaction ◽

Endemic Region ◽

Increased Risk ◽

Increase Risk ◽

Polymerase Chain

Some evidence suggests that a variety of genetic factors contribute to development of the tuberculosis (TB).TLR4andTLR9have been proposed as susceptibility genes for TB. This study was performed in 124 newly diagnosed TB cases and 149 healthy controls in a TB-endemic region of Iran. TheTLR4genes Asp299Gly, Thr399Ile, andTLR9gene T-1486C polymorphisms were amplified by polymerase chain reaction (PCR) and then detected by PCR-restriction fragment length polymorphism (RFLP). The frequencies of the mutant alleles ofTLR4Arg299Gly, Thr399Ile, andTLR9T-1486C polymorphisms were 0.8versus0.1, 5.6versus3, and 28.6versus25.2 in patients and controls, respectively, that were not significant. The synergic effect of TI,II/CC genotypes forTLR4Thr399Ile andTLR9T-1486C polymorphisms showed increased risk of PTB susceptibility. In conclusion, no significant relation was found betweenTLR4andTLR9polymorphisms alone and PTB. However, synergic effects ofTLR4Thr399Ile andTLR9-1486T/C polymorphisms might increase risk of PTB.

Download Full-text

The presence and prevalence of Legionella spp in collected rainwater and its aerosolisation during common gardening activities

Perspectives in Public Health ◽

10.1177/1757913918786322 ◽

2018 ◽

Vol 138 (5) ◽

pp. 254-260 ◽

Cited By ~ 5

Author(s):

L Steege ◽

G Moore

Keyword(s):

Quantitative Polymerase Chain Reaction ◽

Meteorological Conditions ◽

Ambient Conditions ◽

Chain Reaction ◽

Air Sampler ◽

Increased Risk ◽

Fine Spray ◽

Polymerase Chain ◽

Lower Temperature ◽

Mean Concentration

Aims: To determine the presence and prevalence of Legionella spp in domestic rainwater storage butts and to quantify its aerosolisation when collected rainwater is used for common gardening activities. Methods: Volunteers were asked to take a water sample from their garden rainwater storage butt. The presence of Legionella was determined using quantitative polymerase chain reaction (qPCR). Two new rainwater storage butts were installed on-site at PHE Porton and positioned in sunlight or in the shade. Ambient conditions and those within the two ‘experimental’ water butts were continually monitored. A cyclone air sampler was used to detect the presence of Legionella in the air when collected rainwater was poured from a watering can or delivered via a hosepipe attached to a submersible water butt pump. Results: A total of 63 volunteers provided water samples from 113 different rainwater storage butts. Legionella spp was detected in 107 of these samples at a mean concentration of 4.7 × 104 genomic units l–1. Two of these samples also contained L. pneumophila. The water butt positioned in the shade stored water at a significantly lower temperature than that exposed to sunlight. While the concentration of Legionella was significantly higher in this cooler water, meteorological conditions rather than conditions within the water butt had the greatest effect upon Legionella concentration. No Legionella was detected in the air when rainwater was poured from a watering can. However, using a hose pipe on a ‘fine spray’ setting increased both the number of organisms detected in the air and their dissemination. Conclusion: In this study, Legionella spp were common contaminants of collected rainwater. However, the use of rainwater for common gardening activities should not be discouraged. Aerosolisation of Legionella when using a watering can is minimal and any increased risk associated with hose pipe use can be mitigated by using a coarse spray setting.

Download Full-text

Non-invasive ventilation in the treatment of severe polymicrobial community-acquired pneumonia

Italian Journal of Medicine ◽

10.4081/itjm.2017.675 ◽

2017 ◽

Vol 11 (1) ◽

pp. 57

Author(s):

Enrico Cinque ◽

Ines Maria Grazia Piroddi ◽

Cornelius Barlascini ◽

Alessandro Perazzo ◽

Antonello Nicolini

Keyword(s):

Mechanical Ventilation ◽

Severe Disease ◽

Invasive Mechanical Ventilation ◽

Clinical Signs ◽

Case Series ◽

Community Acquired Pneumonia ◽

Invasive Ventilation ◽

Non Invasive ◽

Non Invasive Ventilation ◽

Increased Risk

Polymicrobial pneumonia may be caused by the combination of respiratory viruses, bacteria and fungi in a host. Colonization by <em>Streptococcus pneumoniae</em> was associated with increased risk of Intensive Care Unit admission or death in the setting of influenza infection, whereas the colonization by methicillin sensible <em>Staphylococcus aureus</em> co-infection was associated with severe disease and death in adults and children. The principal association of pathogens in community-acquired pneumonia (CAP) is bacteria and viral co-infection, and accounts approximately for 39% of microbiological diagnosed cases of CAP. The differential clinical diagnosis between a viral and a bacterial CAP is not easy: no clinical signs or radiological findings help the clinician to suspect to the diagnosis. Patients with polymicrobial infections are more likely to have underlying medical conditions and have more severe outcome. Severe respiratory failure and need of mechanical ventilation occur in several cases. Non invasive ventilation (NIV) use aims to avoid invasive mechanical ventilation. NIV treatment is controversial owing to high reported treatment failure. In this case series we report three cases of severe polymicrobial CAP: all of them required NIV with a good outcome.

Download Full-text

Association between polymorphisms inIL27and risk for CHD in a Chinese population

Cardiology in the Young ◽

10.1017/s1047951115000037 ◽

2015 ◽

Vol 26 (2) ◽

pp. 237-243 ◽

Cited By ~ 4

Author(s):

Danyan Zhang ◽

Mingfu Ma ◽

Yuyou Yang ◽

Ling Wan ◽

Zhixi Yang ◽

...

Keyword(s):

Ventricular Septal Defect ◽

Atrial Septal Defect ◽

Chinese Population ◽

Septal Defect ◽

Fragment Length Polymorphism ◽

Chd Risk ◽

Increased Risk ◽

Polymerase Chain ◽

Maternal Tolerance ◽

Control Study

AbstractBackgroundIL-27, a member of the IL-12 family, has been involved in maternal tolerance to the foetus and successful pregnancy. Growing evidences indicate that IL-27 plays a crucial role in pregnancy.AimWe carried out the present study in order to investigate whether polymorphisms in theIL27are associated with the risk for CHDs, including atrial septal defect and ventricular septal defect.Patients and methodsWe conducted this case–control study among 247 atrial septal defect patients, 150 ventricular septal defect patients, and 368 healthy controls in a Chinese population using polymerase chain reaction-restriction fragment length polymorphism assay.ResultsSignificantly increased risk for atrial septal defect (p=0.001, OR=1.490, 95% CI=1.178–1.887) and ventricular septal defect (p=0.004, OR=1.502, 95% CI=1.139–1.976) was observed to be associated with the allele G of rs153109. In a dominant model, we have also observed that increased susceptibilities for atrial septal defect (p<0.01, OR=1.89, 95% CI=1.35–2.63) and ventricular septal defect (p<0.01, OR=2.50, 95% CI=1.67–3.85) were statistically associated with rs153109; however, no association was found between CHD risk and rs17855750 in theIL27gene.ConclusionThe 153109 of theIL27gene may be associated with the susceptibility to CHD, including atrial septal defect and ventricular septal defect.

Download Full-text

Reintubation rates after extubation to different non-invasive ventilation modes in preterm infants

BMC Pediatrics ◽

10.1186/s12887-021-02760-7 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Alaa Masry ◽

Nuha A. M. A. Nimeri ◽

Olfa Koobar ◽

Samer Hammoudeh ◽

Prem Chandra ◽

...

Keyword(s):

Preterm Infants ◽

Neonatal Intensive Care ◽

Neonatal Morbidity ◽

Intermittent Positive Pressure Ventilation ◽

Nasal Cannula ◽

Positive Pressure ◽

Invasive Ventilation ◽

Non Invasive ◽

Non Invasive Ventilation ◽

Increased Risk

Abstract Introduction Respiratory Distress Syndrome (RDS) is a common cause of neonatal morbidity and mortality in premature newborns. In this study, we aim to compare the reintubation rate in preterm babies with RDS who were extubated to Nasal Continuous Positive Airway Pressure (NCPAP) versus those extubated to Nasal Intermittent Positive Pressure Ventilation (NIPPV). Methods This is a retrospective study conducted in the Neonatal Intensive Care Unit (NICU) of Women’s Wellness and Research Center (WWRC), Doha, Qatar. The medical files (n = 220) of ventilated preterm infants with gestational age ranging between 28 weeks 0 days and 36 weeks + 6 days gestation and extubated to non-invasive respiratory support (whether NCPAP, NIPPV, or Nasal Cannula) during the period from January 2016 to December 2017 were reviewed. Results From the study group of 220 babies, n = 97 (44%) babies were extubated to CPAP, n = 77 (35%) were extubated to NIPPV, and n = 46 (21%) babies were extubated to Nasal Cannula (NC). Out of the n = 220 babies, 18 (8.2%) were reintubated within 1 week after extubation. 14 of the 18 (77.8%) were reintubated within 48 h of extubation. Eleven babies needed reintubation after being extubated to NCPAP (11.2%) and seven were reintubated after extubation to NIPPV (9.2%), none of those who were extubated to NC required reintubation (P = 0.203). The reintubation rate was not affected by extubation to any form of non-invasive ventilation (P = 0.625). The mode of ventilation before extubation does not affect the reintubation rate (P = 0.877). The presence of PDA and NEC was strongly associated with reintubation which increased by two and four-folds respectively in those morbidities. There is an increased risk of reintubation with babies suffering from NEC and BPD and this was associated with an increased risk of hospital stay with a P-value ranging (from 0.02–0.003). Using multivariate logistic regression, NEC the NEC (OR = 5.52, 95% CI 1.26, 24.11, P = 0.023) and the vaginal delivery (OR = 0.23, 95% CI 0.07, 0.78, P = 0.018) remained significantly associated with reintubation. Conclusion Reintubation rates were less with NIPPV when compared with NCPAP, however, this difference was not statistically significant. This study highlights the need for further research studies with a larger number of neonates in different gestational ages birth weight categories. Ascertaining this information will provide valuable data for the factors that contribute to re-intubation rates and influence the decision-making and management of RDS patients in the future.

Download Full-text

Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear

Bioscience Reports ◽

10.1042/bsr20191549 ◽

2019 ◽

Vol 39 (10) ◽

Author(s):

Kaisong Miao ◽

Lifeng Jiang ◽

Xindie Zhou ◽

Lidong Wu ◽

Yong Huang ◽

...

Keyword(s):

Rotator Cuff ◽

Rotator Cuff Tear ◽

Fragment Length Polymorphism ◽

Direct Sequencing ◽

Matrix Metalloproteases ◽

Chain Reaction ◽

Cuff Tear ◽

Increased Risk ◽

Polymerase Chain

Abstract An association of Matrix Metalloproteinases-1/3 (MMP-1/3) rs1799750/rs3025058 polymorphism with increased risk of rotator cuff tear (RCT) has been reported in a Brazilian population. However, this significant association has not been confirmed in the Chinese population. Genotyping was conducted by polymerase chain reaction (PCR)-restriction fragment length polymorphism and direct sequencing. Our results demonstrated that individuals with the TT genotype had a significantly higher risk of RCT compared with those with the CC genotype. The increased risk of RCT progression was associated with the 2G allele of the rs1799750 polymorphism. No significant association was observed for genotypic and allelic frequencies of the rs3025058 polymorphism. A significant association of the MMP-1 rs1799750 polymorphism was observed with smokers, drinkers and people aged ≥60 years and non-diabetic people. Additionally, the MMP-1 rs1799750 polymorphism was associated with pre-operative stiffness in RCT patients. In conclusion, a significant correlation was identified between the MMP-1 rs1799750 polymorphism and RCT. The MMP-1 rs1799750 polymorphism might be considered as a biomarker of genetically high-risk RCT, helping to clarify the mechanism of RCT.

Download Full-text

Association Of Mir-196a (Rs11614913) And Mir-499 (Rs3746444) With Ischemic Stroke An Iranian Study

Advances in Bioscience and Clinical Medicine ◽

10.7575/aiac.abcmed.ca1.20 ◽

2017 ◽

pp. 20

Author(s):

Mehrzad Pourjafar ◽

Halimeh Zare ◽

Maryam Kohan ◽

Negar Azarpira

Keyword(s):

Polymerase Chain Reaction ◽

Ischemic Stroke ◽

Fragment Length Polymorphism ◽

Chain Reaction ◽

Increased Risk ◽

Pcr Rflp ◽

The Common ◽

Polymerase Chain ◽

And Function ◽

Restriction Fragment Length

Objective: MicroRNAs are involved in the regulation of many physiological and pathological processes, such as atherosclerosis. Genetic polymorphisms in microRNA may affect its biogenesis and function. The aim of this study was to examine whether microRNA polymorphisms (mir-196a rs11614913 and mir-499 rs3746444) contribute to the risk of ischemic stroke. Methods: Genotyping was performed in 85 patients and 105 normal control, using polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method.Results: In respect of rs11614913, significant association was observed between CC (P=0.003; OR= 0.41; CI=0.21 – 0.79), and TT (P=0.025; OR=2.22; CI=1.04 –4.8) genotypes. The inheritance of T allele increased the risk of ischemic stroke. There was a significant association between the GA genotype frequency of rs3746444 (P=0.01; OR= 0.41; CI=0.23– 0.87). TDiscussion: The present study provided evidence that the mir-196a and mir-499 polymorphisms are associated with a significantly increased risk of ischemic stroke in Iranian population. The common genetic polymorphism in pre-microRNAs may be contributed to the pathogenesis of ischemic stroke and represented as novel markers for stroke susceptibility.

Download Full-text