scholarly journals Associations of Genetic Variation in Glyceraldehyde 3-Phosphate Dehydrogenase Gene with Noise-Induced Hearing Loss in a Chinese Population: A Case-Control Study

Author(s):  
Liu Wan ◽  
Boshen Wang ◽  
Juan Zhang ◽  
Baoli Zhu ◽  
Yuepu Pu

Objective: The purpose of this paper was to clarify the association between genetic variation in the glyceraldehyde 3-phosphate dehydrogenase (GAPDH) gene and the risk of noise-induced hearing loss (NIHL). Methods: A case-control study (633 cases and 625 controls) was conducted in this study. Logistic regression was used to analyze the relationships between environmental and individual factors and NIHL. Gene expression levels were compared among each GAPDH rs6489721 genotype and between the case and control groups based on real-time fluorescence quantitative Polymerase Chain Reaction (PCR). Results: The T allele of GADPH rs6489721 was significantly associated with NIHL (odds ratio (OR) = 1.262, 95% confidence interval (CI) (1.066, 1.493), p = 0.006) and showed strong associations in the codominant and dominant models (TT vs. CC: OR = 1.586, 95% CI (1.131, 2.225), p = 0.008; TT vs. TC/CC: OR = 1.391, 95% CI (1.073, 1.804), p = 0.013). The expression level of the TT genotype was significantly higher than that of the CC genotype (p = 0.012), and the expression of the case group was also higher than that of the control group (p = 0.013). Conclusions: The homozygous risk allele (TT) of rs6489721 was associated with an enhanced GAPDH expression, resulting in the development of NIHL in a Chinese population.

2017 ◽  
Vol 37 (5) ◽  
Author(s):  
Xin-Rui Han ◽  
Xin Wen ◽  
Shan Wang ◽  
Xiao-Wu Hong ◽  
Shao-Hua Fan ◽  
...  

This case–control study investigated the association of transforming growth factor-β (TGF-β) receptor type I and II (TGFBR1 and TGFBR2) gene polymorphisms with the risk of hypospadias in a Chinese population. One hundred and sixty two patients suffering from hypospadias were enrolled as case group and 165 children who underwent circumcision were recruited as control group. Single nucleotide polymorphisms (SNPs) in TGFBR1 and TGFBR2 genes were selected on the basis of genetic data obtained from HapMap. PCR-restriction fragment length polymorphism (PCR-RFLP) was performed to identify TGFBR1 and TGFBR2 gene polymorphisms and analyze genotype distribution and allele frequency. Logistic regression analysis was conducted to estimate the risk factors for hypospadias. No significant difference was found concerning the genotype and allele frequencies of TGFBR1 rs4743325 polymorphism between the case and control groups. However, genotype and allele frequencies of TGFBR2 rs6785358 in the case group were significantly different in contrast with those in the control group. Patients carrying the G allele of TGFBR2 rs6785358 polymorphism exhibited a higher risk of hypospadias compared with the patients carrying the A allele (P<0.05). The TGFBR2 rs6785358 genotype was found to be significantly related to abnormal pregnancy and preterm birth (both P<0.05). The frequency of TGFBR2 rs6785358 GG genotype exhibited significant differences amongst patients suffering from four different pathological types of hypospadias. Logistic regression analysis revealed that preterm birth, abnormal pregnancy, and TGFBR2 rs6785358 were the independent risk factors for hypospadias. Our study provides evidence that TGFBR2 rs6785358 polymorphism might be associated with the risk of hypospadias.


Neonatology ◽  
2020 ◽  
pp. 1-7
Author(s):  
Tobias Hengartner ◽  
Mark Adams ◽  
Riccardo E. Pfister ◽  
Diane Snyers ◽  
Jane McDougall ◽  
...  

<b><i>Aim:</i></b> The aim of this study is to examine possible associations between the transfusion of RBC or platelets (PLTs) and the development of retinopathy of prematurity (ROP) in infants. <b><i>Methods:</i></b> This retrospective, national, case-control study included all live births in Switzerland between 2013 and 2018. We investigated preterm infants at a gestational age of &#x3c;28 weeks, who developed higher stage ROP (≥stage 2, <i>n</i> = 178). Each case infant was matched to another of the same sex who did not develop ROP (<i>n</i> = 178, control group). <b><i>Results:</i></b> When compared with the control group, we observed higher numbers of RBC transfusions per infant and higher percentages of infants receiving PLT transfusions in the case group. An adjusted logistic regression analysis revealed that both RBC (odds ratio [OR] 1.081, 95% confidence interval [CI] 1.020–1.146) and PLT transfusions (OR = 2.502, 95% CI 1.566–3.998) numbers were associated with ROP development. <b><i>Conclusions:</i></b> Multiple RBC and PLT transfusions are associated with higher stage ROP development. Prospective studies are required to determine their potential as risk factors.


2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Sang Oh Kang ◽  
Kyung Hyun Min ◽  
Hyun Jeong Kim ◽  
Tae Hyeok Kim ◽  
Woorim Kim ◽  
...  

Abstract Background In March 2020, the US Food and Drug Administration decided that the dangers related to neuropsychiatric events (NPEs) of montelukast, one of the leukotriene modifying agents (LTMAs), should be communicated through ‘boxed warning’. In case of NPEs, the prevalence has been the highest in elderly people. Because the characteristics of the elderly such as old age itself can act as risk factors. Therefore, an investigation on safety of LTMAs related to NPEs in elderly using LTMAs is needed. Method A nested case-control study using an elderly sample cohort from the Korean National Health Insurance Service database was used. The asthma cohort included asthma patients newly diagnosed between 2003 and 2013. Within the asthma cohort, the case group was defined as patients who were diagnosed with NPEs. Among patients who had never been diagnosed with NPEs, the control group was selected by matching 1:1 by propensity score. Patients who were prescribed LTMAs for 1 year prior to index date were defined as the exposure group. The logistic regression model was used to measure the effect of LTMAs on NPEs. Results We identified 141,165 patients with newly diagnosed asthma, and selected 31,992 patients per each case and control group. Exposure to LTMAs significantly increased the risk of overall NPEs about in comparison with the absence of exposure (crude odds ratio [OR] 1.58, 95% CI 1.50–1.68). After adjusting for confounding factors, the overall NPEs risk increased (adjusted OR, 1.67, 95% CI 1.58–1.78). Conclusion This study suggests that elderly asthma patients prescribed LTMAs had a higher risk of NPEs than patients who were not treated with LTMAs. Therefore, clinicians should be aware of the potential risks of LTMAs.


2020 ◽  
Vol 3 (1) ◽  
pp. 16
Author(s):  
Siti Lestari ◽  
Dyah Dwi Astuti ◽  
Fachriza Malika Ramadhani

Asfiksia perinatal merujuk pada kekurangan oksigen selama persalinan, sehingga berpotensi menyebabkan kematian dan kecacatan. WHO memperkirakan  4 juta anak terlahir dengan asfiksia setiap tahun, dimana 1 juta di antaranya meninggal dan 1 juta anak bertahan hidup dengan gejala sisa neurologis yang parah. Penelitian ini bertujuan untuk menganalisis faktor risiko fetal dan tali pusat pada asfiksia neonatal.Penelitian dilakukan di lakukan di RS Dr Moewardi Surakarta dengan pendekatan  quantitative retrospective case control study. Data diambil dari rekam medis antara  tahun 2013-2018. Penelitan ini melibatkan  264 neonatal yang terdiri dari 88 kelompok kasus dan 176  kelompok control. Kelompok kasus adalah bayi dengan diagnosa  asfiksia yang  dilakukan analisis terhadap faktor risiko fetal, sedangkan bayi yang tidak mengalami asfiksia dijadikan  kelompok kontrol. Hasil analisis statistik uji Chi-Square dan Fisher Exact ditemukan bahwa  kelahiran prematur (OR 2,07 CI 95% P 0,02), persalinan dengan tindakan (OR 3,61 CI 95% P 0,00), berat bayi (OR 2,85 CI 95% P 0,00), posisi janin (OR 2,37 CI 95% P 0,05), tali pusat ( QR 3,071 CI 95%  P 0,01)  berisiko terhadap insiden asfiksia perinatal. Air ketuban yang bercampur meconium (OR 1,51 CI 95% P 0,16) tidak memiliki risiko  dengan Asfiksia perinatal. Kesimpulan: Risiko terhadap insiden asfiksia perinatal  meliputi kelahiran prematur, persalinan dengan tindakan, berat bayi, posisi janin,  dan tali pusat.Perinatal asphyxia refers to a lack of oxygen during labor, which has the potential to cause death and disability. WHO estimates  4 million children born with asphyxia each year, in  which 1 million dies and 1 million survive with severe neurological sequelae. This study aims to analyze fetal and umbilical risk factors in neonatal asphyxia.This research is a quantitative retrospective case-control study, which was conducted at The Dr. Moewardi  hospital,  Surakarta. Data was taken from  medical records from 2013-2018. The case group was patients diagnosed  asphyxia, while those who did not experience asphyxia were treated as a control group.  A total of 264  samples, consisting of 88 case group respondents and 176 control group respondents. Statistical analysis Chi- Square and Fisher Exact found that preterm birth (OR 2.07 CI 95% P 0.02), labor with instrument or complication (OR 3.61 CI 95% P 0.00), infant weight (OR 2.85 CI 95% P 0, 00), fetal position (OR 2.37 CI 95% P 0.05), umbilical cord (QR 3.071 CI 95% P 0.01) are at risk for the incidence of perinatal Asphyxia. The amniotic fluid mixed with meconium (OR 1.51 CI 95% P 0.16) has no risk with perinatal asphyxia.The risk factors of incidences of perinatal asphyxia were  preterm birth, labor with instrument or complication, baby weight, fetal position and umbilical cord. 


2019 ◽  
Author(s):  
Aida Torkzaban ◽  
Seyed Amir Mansour Alavi Naeini ◽  
Akbar Hassanzadeh ◽  
Mehrdad Namdari

Abstract Background Coronary hearth diseases are among the main causes of death in adults. Increase of oxidative stress and defects in antioxidant defense play a major role in endothelium performance and are an effective factor in progress of atherosclerosis. Some studies have also reported different malondialdehyde and total antioxidant capacity among the atherosclerosis patients.Methods In this case-control study, 44 atherosclerosis patients referring to Shahid Madani treatment-education center were considered as the case group; while 44 healthy peoples were placed in the control group. Demographic data and anthropometric indices were measured. Food frequency questionnaire and international physical activity questionnaires were also completed. After 12 hours of fasting, 10 ml blood was sampled from the participants. Uric acid, vitamin C, TAC and MDA were also measured. The data were finally analyzed by SPSS Ver 22 software.Results A significant difference was observed between the two groups in terms of uric acid (P<0.001) and vitamin C (P<0.03). However, mean MDA and TAC showed no significant difference between the two groups. The two groups’ difference in terms of vitamin A, E and beta carotene, zinc and selenium intake was not significant. A significant difference was however detected between the two groups in terms of vitamin C (P<0.047). A significant relationship was also observed between the systolic pressure and CHD (P<0.028).Conclusion Results of this study indicated that the uric acid and vitamin C levels of atherosclerosis patients had significant increase and decrease in comparison with the healthy subjects, respectively. Mean TAC and antioxidant levels of their diets (except for vitamin C) showed no significant difference. Systolic blood pressure of the patients was significantly higher than the controls.


2020 ◽  
Vol 20 (3) ◽  
pp. 1241-1249
Author(s):  
Mostafa Ahmadi ◽  
Mahbobeh Faramarzi ◽  
Zahra Basirat ◽  
Farzan Kheirkhah ◽  
Mohammad Chehrazi ◽  
...  

Background: Polycystic Ovarian Syndrome (PCOS) is one of the most common causes of infertility in women. Objective: The current study investigated mental and personality disorders in infertile women with and without PCOS. Methods: This case-control study evaluated 400 infertile women who referred to the Infertility Center in Babol city (North of Iran). Participants were categorized into the case group (201 PCOS) and the control group (199 without PCOS). All of the participants completed the Millon Clinical Multi-axial Inventory-III (MCMI-III). Results: The mean scores for clinical personality patterns were significantly higher for six personality disorders (schiz- oid, avoidant, antisocial, depressive, sadistic, and negativistic) and for three classes of severe personality disorder patterns (schizotypal, borderline, and paranoid) in infertile women with PCOS than in women without PCOS. The mean scores for eight clinical disorders (somatoform, manic disorder, dysthymia, alcohol-dependence, drug-dependence, post-trauma stress disorder, major depression, and delusion disorder) were also higher in infertile women with PCOS than in women without PCOS. Conclusion: The scores of many mental and personality disorders are higher in infertile women with PCOS than in women without PCOS. Thus, clinicians should prioritize recognizing and treating psychological problems of infertile women with PCOS. Keywords: Polycystic ovarian syndrome; infertility; personality disorders.


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