A Prospective Study on Activities of Daily Living, Comfort, Body Image, and Cardiac Symptoms in Coronary Artery Bypass Patients.

BACKGROUND: A coronary artery bypass graft procedure reduces mortality for cardiovascular patients, but those undergoing it often face negative body perception, loss of daily activities, and lingering symptoms, hindering full functional recovery and comfort. AIM: To compare the comfort level, activities of daily living, and body image based on certain characteristics of patients at baseline, (ii) Evaluate changes over time in levels of discomfort, activities of daily living, body image, and cardiac symptoms before and after CABG surgery within three months. METHOD: This descriptive prospective cohort study comprised 50 patients scheduled for coronary artery bypass surgery. The study examined cardiac symptoms, comfort levels, daily activities, and multidimensional body-self relationships as its outcomes. RESULTS: A Friedman test revealed that patients' body image, comfort levels, activities of daily living, and each heart symptom were significantly influenced by the time of day. According to this study, patients most frequently reported experiencing exhaustion, depression, and worry as cardiac symptoms. Only the comfort level exhibited a high correlation with each heart symptom, as indicated by Spearman's rho analysis. CONCLUSION: The body image, comfort level, activities of daily living, and cardiac symptoms of patients changed over time. Therefore, regular assessments of these symptoms during the pre- and post-operative periods could offer valuable insights into patients' needs. This information can be instrumental in developing interventions that address patients' well-being and may positively impact patient outcomes.

Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome.

AIM: Nijmegen breakage syndrome (NBS) is an autosomal recessive DNA repair disorder which is characterized by immunodeficiency and increased risk of lymphoproliferative malignancy. CASE: We observed an increase in the rate of chromosomal rearrangements in the cultured cells following an incidental radiograph for craniosynostosis in a newborn who was followed up due to microcephaly. We identified a homozygous deletion of c.657_661delACAAA/p.Lys219fs (rs587776650) in the NBN gene through whole exome sequencing. CONCLUSION: It is crucial to thoroughly examine the clinical features of newborns with microcephaly and consider chromosomal instability syndromes just like Nijmegen breakage syndrome. Not overlooking radiosensitivity, which is a characteristic feature of this syndrome, is a vital condition to the patient's survival time.

Relationships between sleep, quality of life and anxiety in patients undergoing cardiac surgeries.

OBJECTIVE: the objective of this study is to examine the relationships between sleep, quality of life and anxiety in patients undergoing cardiac surgeries during the preoperative period, at discharge, two weeks after discharge and three months after discharge. METHOD: this study had a prospective, descriptive and correlational design and was conducted in a single center. The sample consisted of 68 patients who had undergone cardiac surgeries. The data were collected using an Information Form, the State-Trait Anxiety Inventory, the Richard-Campbell Sleep Questionnaire and the Nottingham Health Profile. RESULTS: the patients' sleep quality increased from moderate to good at each measurement moment after the surgeries, when compared to sleep quality measured at their first hospitalization. While the state anxiety scores decreased at discharge and 2 weeks after the initial hospitalization, they increased to a moderate level 3 months after discharge. There was no significant relationship between anxiety levels and sleep quality at any measurement moment. Additionally, the patients' quality of life was significantly improved 2 weeks and 3 months after discharge. CONCLUSION: The results of this study showed that the sleep quality of patients who had undergone cardiac surgeries was improved during the postoperative period, and that this improvement exerted a positive effect on their quality of life.

The effects of ergonomic sleep mask use on sleep quality and comfort in intensive care patients.

This study was conducted to determine the effects of the use of ergonomic sleep mask on sleep quality and comfort in intensive care patients. This randomised controlled experimental study was completed with 128 surgical intensive care patients (control = 64, experimental = 64). During the second night of their stay in the unit, ergonomic sleep masks were given to the patients in the experimental group, and earplugs and eye masks were given to the patients in the control group. A Patient information form, Visual analogue scale for discomfort, and the Richard-Campbell sleep questionnaire were used to collect data. While 51.6% of the patients were female, the mean age of the patients was 63.87 ± 14.94 years. The highest rates of patients had undergone cardiovascular surgery (28.9%) and general anaesthesia (57.8%). It was determined that the sleep quality of the patients in the experimental group was statistically and clinically significantly higher after the intervention (50.86 ± 21.46 vs 37.64 ± 14.97, t = -5.355, Cohen's d = 0.450, p < 0.001). Likewise, the patients who used ergonomic sleep masks had a statistically significantly lower mean VAS for Discomfort score, and their comfort level was higher (p < 0.001), but the difference was not clinically significant (Cohen's d = 0.208). The results of this study showed that the use of ergonomic sleep masks in surgical intensive care patients had a more positive effect on both the sleep quality and comfort levels of patients compared with earplugs and eye masks. The use of an ergonomic sleep mask is recommended in the early period to facilitate sleep and rest in surgical intensive care patients.

The 3'UTR region of the DNA repair gene PARP-1 May increase the severity of COVID-19 by altering the binding of antiviral miRNAs.

COVID-19 may cause the release of systemic inflammatory cytokines resulting in severe inflammation. PARP-1 has been identified as a nuclear enzyme that is activated by DNA strand breaks. It has been suggested that PARP-1 has a role in the cytokine storm shown as a cause of mortality in COVID-19, and its inhibition may adversely affect the replication of SARS -CoV-2. We aimed to investigate the relationship between PARP-1 gene polymorphisms and the clinical severity of COVID-19. rs8679 TT genotype was found to increase with the COVID-19 disease severity. The 3'UTR polymorphism rs8679 may cause PARP-1 activity as a result of viral replication increase by changing the binding site of antiviral or anti-inflammatory miRNAs. PARP-1 may affect the severity of COVID-19 by cytokine release and maybe a possible treatment target.

Investigation of the relationship between IL17A, IL17F and ILR1N polymorphisms and COVID-19 severity: The predictive role of IL17A rs2275913 polymorphism in the clinical course of COVID-19.

Coronavirus disease 2019 (COVID-19) is an infectious respiratory disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although the mortality rate of the disease has been relatively under control as of 2022, more than 15 million confirmed COVID-19 cases have been detected in Turkey to date, causing more than 100,000 deaths. The clinical manifestation of the disease varies widely, ranging from asymptomatic to acute respiratory distress syndrome causing death. The immune response mechanisms have an important impact on the fine adjustment between healing and enhanced tissue damage. This study aims to investigate the relationship between the variants of the interleukin 1 receptor antagonist (IL1RN), interleukin 17A (IL17A), and interleukin 17F (IL17F) genes and COVID-19 severity. The study population comprised 202 confirmed COVID-19 cases divided into three groups according to severity. The IL1RN variable number of a tandem repeat (VNTR) polymorphism was genotyped by polymerase chain reaction (PCR), and IL17A rs2275913, IL17F rs763780 and rs2397084 polymorphisms were genotyped by the PCR-based restriction fragment length polymorphism method. Statistical analysis revealed a significant association between IL17A rs2275913 variant and COVID-19 severity. The AA genotype and the A allele of IL17A rs2275913 were found significant in the severe group. Additionally, we found a significant relationship between haplotype frequency distributions and severity of COVID-19 for the IL17F rs763780/rs2397084 (p = 0.044) and a combination of IL17F rs763780/rs2397084/ IL17A rs2275913 (p = 0.04). The CG and CGA haplotype frequencies were significantly higher in the severe group. IL17A rs2275913, IL17F rs763780 and rs2397084 variants appear to have important effects on the immune response in COVID-19. In conclusion, variants of IL17A rs2275913, IL17F rs763780 and rs2397084 may be the predictive markers for the clinical course and potential immunomodulatory treatment options in COVID-19, a disease that has placed a significant burden on our country.

Children's perioperative multidimensional anxiety scale: Turkish cross-cultural adaptation.

RATIONALE: The number of pediatric surgeries is constantly increasing. Evaluating anxiety levels in pediatric surgical patients is highly important in terms of preventing complications. AIMS AND OBJECTIVES: The purpose of this study is to cross-culturally adapt to the Turkish version, and to test the validity and reliability of Children's Perioperative Multidimensional Anxiety Scale (CPMAS). METHOD: This methodological study was carried out with 50 children aged 7-10 years who underwent surgery at Bartin Obstetrics and Pediatrics Hospital between September 2021 and May 2022. The self-reported CPMAS and Children's Anxiety Meter-State (CAM-S) were administered before the surgery, on the day of the surgery, and 1 month after the surgery to collect data. The internal consistency, test-retest reliability, parallel forms reliability, content validity, and construct validity of CPMAS were tested. RESULTS: Children's Perioperative Multidimensional Anxiety Scale showed a high level of internal consistency (Cronbach's alpha = 0.858, 0.916, 0.864). The item-total correlation values of CPMAS were found to be 0.58-0.71 before the surgery, 0.77-0.83 on the day of the surgery, and 0.60-0.80 1 month after the surgery. CPMAS was found to be a single-factor scale explaining 65% of the variance in the examined variable. The correlations between CPMAS and CAM-S (parallel forms) were found to be 0.474 before the surgery, 0.528 on the day of the surgery, and 0.599 1 month after the surgery. CONCLUSION: The CPMAS, which was developed by Chow et al. in English, had high validity and reliability levels for Turkey. It is recommended that the scale be used by healthcare professionals in Turkey in the assessment of surgery-related anxiety in children.

Association of NOD1 and NOD2 Polymorphisms With Susceptibility to Subacute Sclerosing Panencephalitis.

Background: Subacute sclerosing panencephalitis is a progressive neurodegenerative disease that is a late complication of measles infection. However, to date, the pathogenesis of subacute sclerosing panencephalitis is still not explained; both viral and host factors seem to be associated. The present study aimed to investigate the relationship between NOD1 and NOD2 gene variants and subacute sclerosing panencephalitis. Methods: The gene variants of NOD1 (rs2075820 and rs2075818) and NOD2 (R334Q and R334W) were explored in 64 subacute sclerosing panencephalitis patients and 70 controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The frequencies of the AA genotype and A allele of rs2075820 (NOD1; c.796G>A) polymorphism were lower in patients compared with controls (P = .022 and .014, respectively). The presence of the A allele of rs2075820 may be considered as a protective factor for subacute sclerosing panencephalitis. There was a significant difference between the groups in rs2075818 (NOD1 G/C) polymorphism, and the CC genotype increased the risk of subacute sclerosing panencephalitis by 3.471-fold. The carriers of the C allele of rs2075818 (G/C) had a 1.855-fold susceptibility to subacute sclerosing panencephalitis (P = .018). The GC genotype might be associated with subacute sclerosing panencephalitis susceptibility in the patients compared with patients without having that haplotype (P = .03). Conclusions: Thus, we identified an association between subacute sclerosing panencephalitis and the rs2075820 (NOD1 G/A) and rs2075818 (NOD1 G/C) polymorphisms. These findings implicate a possible effect of this genetic polymorphism in susceptibility to subacute sclerosing panencephalitis, which needs to be confirmed in bigger populations.

The effectiveness of short text messages on nurses' arrhythmia interpretation skills.

BACKGROUND: Intensive care nurses play an important role in the management of critically ill patients including identification of cardiac arrhythmias. Interventions to improve arrhythmia identification can be expensive, time-consuming, and are not always successful. AIMS: This study aimed to explore the effectiveness of using short message service (SMS) messaging to improve intensive care nurses' cardiac arrhythmia interpretation skills. DESIGN: This study was a prospective, two-group, assessor-blinded, randomized controlled trial with a pretest-posttest experimental design. METHODS: The study was conducted from February 2020 to February 2021 for the intervention as well as the control group, in a teaching hospital in northwest Turkey. The intervention group was sent the one-way SMS messages on cardiac arrhythmias via WhatsApp during an 8-week period, whereas the control group did not receive any intervention. The Cardiac arrhythmias assessment questionnaire (CAAQ) was used to measure outcomes. The data were analysed using ANCOVA and an independent t-test. RESULTS: A total of 66 intensive care nurses were randomly assigned to either the intervention or the control group. The ANCOVA analysis indicated that ICU nurses who received SMS messages about cardiac arrhythmias two times a week had significantly increased CAAQ scores (P < 0.001) with a large effect size (partial eta-squared = 0.588). CONCLUSION: This study concluded that using SMS messages as a training tool has a positive influence on cardiac arrhythmias interpretation skills among ICU nurses. RELEVANCE TO CLINICAL PRACTICE: Using SMS messages could be an alternative, effective, and innovative approach to improve nurses' clinical practice skills.

Evaluation of pressure ulcer risk and development in operating rooms.

AIM: This study aimed to determine the risk and development of pressure ulcers in operating rooms. MATERIALS AND METHODS: The sample of the study included a total of 250 patients. In the study, the risk of pressure ulcers was assessed before the operation, and the development of pressure ulcers was evaluated within 24 h after the operation. RESULTS: The risk of pressure ulcers was low before the operation, and Stage I pressure ulcer developed in 12.8% of the patients within 24 h after the operation. The patients had pressure ulcers mostly in their sacrum. Their mean 3S Intraoperative Risk Assessment Scale of Pressure Sore score was 15.68 ± 4.84, suggesting that they were not at risk of developing pressure ulcers. Having a chronic disease (OR = 8.986; 95% CI = 3.697-21.845), undergoing general anesthesia (OR = 3.084; 95% CI = 1.323-7.194), and orthopedic surgery (OR = 10.172; 95% CI = 3.121-33.155) were statistically significant risk factors for pressure ulcers (p < 0.001). Additionally, moderately edematous skin (OR = 3.838; 95% CI = 1.024-14.386), overweight/underweight (OR = 16.333; 95% CI = 3.779-70.602), intraoperative bleeding greater than 800 ml (OR = 13.000; 95% CI = 3.451-48.969), operation time longer than 5 h (OR = 21.667; 95% CI = 2.122-221.223), moderate intraoperative stress (OR = 4.917; 95% CI = 0.425-56.916), body temperature higher than 38.3 °C or lower than 36.1 °C (OR = 5.462; 95% CI = 2.161-13.805), and intraoperative prone position (OR = 3.354; 95% CI = 1.386-8.115) were statistically significant risk factors for the development of pressure ulcers. CONCLUSION: According to our preoperative pressure ulcer risk assessment, it is very important to take additional protective measures both during and after surgical operations to prevent pressure ulcers.

Lack of association between SOCS3 and SOCS7 polymorphisms and psoriasis.

BACKGROUND: Psoriasis is a common, chronic, inflammatory skin disease that involves changes taking place as a result of activation of the immune system. Suppressor of cytokine signaling proteins (SOCS) are intracellular proteins that act as endogenous inhibitors of proinflammatory pathways triggered by various cytokines. In this study, the relationship between psoriasis disease and SOCS gene polymorphisms is investigated in relation to the pathogenesis of psoriasis to clarify the psoriasis susceptibility profile. METHODS: The SOCS3 rs4969169 and SOCS7 rs3748726 polymorphisms were detected using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The study was approved by the Clinical Research Ethics Committee of Bulent Ecevit University and performed in accordance with the ethical standards established in the 1964 Declaration of Helsinki and later amendments. All participants were informed of the parameters of the study, and they signed consent forms before being included. Statistical analysis was performed using the SPSS 18.0 (SPSS Inc.) package program. RESULTS: For the SOCS3 rs4969169 genotype frequency, the CC/CT genotypes represented 67%/33% in the patient group and 73%/27% in the control group. For the SOCS7 rs3748726 genotype frequency, the TT/TC/CC genotypes made up 89%/9%/1% in the patient group and 91%/8%/1% in the control group. CONCLUSION: The polymorphisms of SOCS3 rs4969169 and SOCS7 rs3748726 were found to have no effective role in the pathogenesis of psoriasis. This is the first study to investigate this topic, and further studies with larger, more ethnically diverse samples are encouraged.

Evaluation of the effect of endotracheal aspiration at different head heights on oxygenation of the brain by non-invasive method in intensive care patients.

OBJECTIVES: To determine the effect of endotracheal aspiration at different head heights on oxygenation brain by non-invasive method in neurosurgery intensive care patients. BACKGROUND: Head elevation of mechanical ventilator-dependent neurosurgery patients and the possible risks of endotracheal aspiration are closely related to the clinical conditions of the patients. DESIGN: A prospective quasi-experimental study with repetitive measurements in a single group. METHODS: In the study, neurosurgery intensive care patients were adjusted to a head height of 15, 30 and 45° (n = 46, power analysis %90). Cerebral oxygenation levels were determined with a non-invasive device at each head height before and in the 1st, 5th and 30th min of endotracheal aspiration. Data were collected with Patient Information Form and cerebral oxygenation device based on NIRS technology. This study performed according to the TREND reporting guidelines for non-randomized/quasi experimental study. RESULTS: The highest cerebral oxygenation value was obtained at 30 min. The decrease in the cerebral oxygenation levels of the patients was highest in the 1st min after endotracheal aspiration, at a head height of 15 degrees for the right cerebral region and at a head height of 30 degrees for the left cerebral region. The increase in oxygenation of the right and left cerebral regions occurred highest at a head height of 45 degrees. CONCLUSIONS: The ideal head height should be 45 degrees during and after endotracheal aspiration in regard to maintaining cerebral oxygenation in neurosurgery intensive care patients. It is extremely important to monitor the cerebral oxygenation status of patients, with non-invasive measurement tools during and after endotracheal aspiration, to prevent secondary complications. RELEVANCE TO CLINICAL PRACTICE: This study reveals the importance of raising the head 45 degrees in the best preservation of cerebral oxygenation values in neurosurgery intensive care patients. Intensive care nurses should pay attention to maintaining this head height.

Association between Psoriasis Disease and IFN-λ Gene Polymorphisms.

Psoriasis is one of the most common chronic immune-mediated skin diseases, having a strong genetic predisposition. Psoriasis is a T-cell-mediated disease with a mixed Th1/Th17 cytokines environment. IL-23/IL-17 axis hyperactivation is the primary pathogenesis. Psoriasis lesions have been known to exhibit high IFN-λ1 and IFN-stimulated genes (ISGs) expression, which appears to be driven by Th17 cells. However, the role and mechanism of IFN-λs in psoriasis disease remains unknown. The study aimed to investigate the relationship between IL-28B and IL-29 gene polymorphisms with psoriasis disease and clinical severity. We performed single-nucleotide polymorphisms (SNPs) of IL-28B rs12979860 (IL-28 C/T), rs8099917 (IL-28 T/G), and IL-29 rs30461 (IL-29 T/C) in 140 patients with psoriasis disease and 159 healthy controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The genotype and allele frequency distributions of the rs12979860 (IL-28 C/T) and rs30461 (IL-29 T/C) polymorphisms were similar in the patient and control groups and were not statistically significant. The TG genotype of rs8099917 was statistically significantly different in patients from both groups. The TG genotype increased the risk of disease1.9-fold. The G allele may be associated with the pathogenesis of psoriasis.

The relationship of gambling with sensation-seeking behavior and psychological resilience in university students.

PURPOSE: We aimed to analyze the relationship of gambling with university students' sensation-seeking behavior and psychological resilience. DESIGN AND METHODS: This cross-sectional and correlational research was performed with 650 students. Data collection tools were Personal Information Form, South Oaks Gambling Screen (SOGS), Zuckerman Sensation-Seeking Scale (ZSSS), and Brief Resilience Scale (BRS). FINDINGS: Of the students, 1.2% were probably pathological gamblers. There was a positive relationship between students' SOGS and ZSSS scores (p < 0.05). However, there was no relationship between students' SOGS and BRS scores (p > 0.05). PRACTICE IMPLICATIONS: Psychological support units and instructors take an active role in determining the gambling behaviors of students and related factors in advance, raising awareness of gambling, and preventing the negative effects of these behaviors in faculty campuses.

Prodynorphin (PDYN) gene polymorphisms in Turkish patients with methamphetamine use disorder, changes in PDYN serum levels in withdrawal and the relationship between PDYN, temperament and depression.

Aim of the study is to compare prodynorphin (PDYN) rs1997794, rs1022563, rs6045819, rs2235749 polymorphisms in individuals with methamphetamine use disorder (MD) to that of healthy controls (HC), and to investigate the differences in serum PDYN levels in methamphetamine withdrawal. It is also aimed to explore the temperament characteristics and depression and their relationship with PDYN polymorphisms and PDYN serum levels in MD group. PDYN gene and serum levels were studied in 134 patients with MD and 97 HC. Patients with MD were administered Beck Depression Inventory (BDI) and Temperament Evaluation of Memphis, Pisa, Paris and San Diego Autoquestionnaire (TEMPS-A). For rs1022563 polymorphism, TT and CT genotype frequency and T allele frequency were significantly higher in the MD group than the frequencies in HC. It was found that rs2235749 polymorphism AA genotype was associated with increased risk of MD. PDYN rs1997794 CT genotypes had significantly higher scores of TEMPS-A irritable than CC genotypes and PDYN rs1022563 CC genotypes had significantly higher scores of TEMPS-A irritable than TT genotypes. PDYN levels among persons with MD were significantly higher than among the HC group when the withdrawal level increased and withdrawal symptoms improved. During the period in which the withdrawal level increased, there was a negative correlation between PDYN level and BDI and a positive relationship between PDYN level and TEMPS-A hyperthymic. It may be beneficial to screen temperament characteristics associated with increased risk of addiction in patients with MD and develop interventions based on temperament characteristics and the effects of PDYN.

In Vitro Effects of Propofol on Cytotoxic, Apoptotic and PI3K-Akt Signaling Pathway Genes on Brain Cancer Cells.

AIM: The study aimed to determine the cytotoxic and apoptotic effect of propofol on glioma cells. BACKGROUND: Propofol [2,6-diisopropylphenol] is a commonly used intravenous anesthetic. Propofol is known to have a mechanism of action on the PI3K-AKT pathway. OBJECTIVE: This study aimed to evaluate the effect of propofol on the proliferation and apoptosis of human glioma cells, as well as to investigate changes in expression levels of the PI3K-AKT signaling pathway genes. MATERIALS AND METHODS: The cytotoxic effect of propofol on the U-87 MG cell line was determined by WST-1 method. Annexin V-FITC and Mitoprobe JC-1 assay were used to measure apoptosis by flow cytometry. The expression levels of genes in the PI3K-AKT signaling pathway were investigated by qRT-PCR. RESULTS: We have shown that propofol induced apoptosis in U-87 MG cells by 17.1 fold compared to the untreated control. Furthermore, significant differences were found in the expression levels of the PI3K-AKT signaling pathway genes. CONCLUSION: As a result of our study, it was found that propofol caused differences in expression levels of PI3K-AKT signaling pathway genes and it was suggested that these differences may be related to apoptosis induction.

Association between IL-18 gene polymorphisms and Hashimoto thyroiditis.

BACKGROUND: Hashimoto's thyroiditis (HT), which is also called lymphocytic thyroiditis, is the most frequent autoimmune thyroid disease (AITD), in which T helper-1 lymphocytes mediate the disease. IL-18 is expressed in thyroid follicular cells (TFCs) during HT. The findings of studies aimed at investigating the relationship between IL-18 and HT are highly contradictory. In this study, we aimed to investigate the association between IL-18 gene polymorphisms and HT. METHODS AND RESULTS: The study included 97 patients diagnosed with HT and 86 volunteers in the healthy control group. The IL18-607C/A (rs1946518) and -137G/C (rs187238) genotypes were determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. No significant difference in the mean age or sex was observed between the groups (p = 0.763 and p = 0.658, respectively). The -137 IL18 CG genotype was more frequent in HT patients than in controls. In HT patients, the risk of the IL-18 CG genotype was more than 2.237 times higher (OR 2.237%95 Cl 1.195-4.187, p = 0.039) than that of the G/G genotype. Additionally, the -607 AC genotype was more frequent in the control group than in the HT group (in individuals with the IL18 CG genotype). CONCLUSIONS: According to our results, the CG genotype might be a risk factor for HT. Conversely, there is a possibility that the AC genotype plays a protective role against the condition. However, further studies will contribute to new solutions by revealing the molecular and cellular mechanisms of HT.

Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet's disease susceptibility and clinical manifestations.

Purpose: Behçet's disease (BD) is an autoinflammatory disease with clinical manifestations such as mucocutaneous, ocular, vascular, gastrointestinal, musculoskeletal and central nervous system involvement. Features of innate and adaptive immunity and inflammasome pathways have been claimed in the pathogenesis of BD. We aimed to investigate the roles of NOD1, NOD2, PYDC1 and PYDC2 genes in the genetic predisposition of BD.Materials and Methods: Genetic variations of NOD1 (rs2075820 and rs2075818) and NOD2 (R334Q and R334W) genes were explored in 68 BD patients and 70 controls with PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) approach. PYDC1 and PYDC2 gene variants were investigated by Sanger sequencing.Results: The polymorphism of rs2075820 (NOD1 G/A) had a statistically significant difference between the BD and controls, AA genotype was 2.460-fold protective. When compared in terms of cardiovascular involvement in BD patients, AA genotype was increased the risk of cardiovascular involvement 4.286-fold. There was a significant difference between BD and controls in rs2075818 (NOD1 G/C) polymorphism and CC genotype increased the risk of BD by 3.780-fold. In terms of rs2075818 variants, there was a statistically significant difference between BD patients with ocular lesions, joints, cardiovascular and gastrointestinal involvement and controls. There was a significant difference between the patients with joint involvement and controls and the risk increased of 3.310-fold.Conclusion: The data shed new light on the association between polymorphisms of NOD1 gene and BD and clinicial manifestations. However, NOD2, PYDC1 and PYDC2 genes were not associated with BD in the Turkish population.

Polymorphisms of ACE (I/D) and ACE2 receptor gene (Rs2106809, Rs2285666) are not related to the clinical course of COVID-19: A case study.

Coronavirus disease 2019 (COVID-19) is an infectious disease, and the reason behind the currently ongoing pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Angiotensin-converting enzyme (ACE2) has been recognized as the specific receptor of the SARS-CoV-2 virus. Although the possible effect of ACE2 gene polymorphism remains unknown, human ACE2 receptor expression influences SARS-CoV-2 susceptibility and COVID-19 disease outcome. In this study, we aimed to investigate the relationship between ACE gene I/D polymorphism, ACE2 receptor gene polymorphism, and COVID-19 severity. ACE gene insertion/deletion (I/D) polymorphism and ACE2 receptor gene rs2106809 and rs2285666 polymorphisms were determined using polymerase chain reaction (PCR) and PCR-based restriction fragment length polymorphism methods, respectively, in 155 COVID-19 patients who were divided into three groups (mild, moderate, and severe) according to clinical symptoms. However, the distribution of genotype and allele frequencies of ACE gene I/D, ACE2 receptor gene rs2106809, and rs2285666 polymorphisms were not statistically significant in all groups. In conclusion, in the study population, ACE gene I/D, ACE2 receptor gene rs2106809, and rs2285666 polymorphisms were not associated with the severity of COVID-19 infection. Although ACE2 receptor gene expression may affect the susceptibility to COVID-19, there is no existing evidence that the ACE or ACE2 gene polymorphisms are directly associated with COVID-19 severity. Interindividual differences in COVID-19 severity might be related to epigenetic mechanisms of ACE2 receptor gene expression or variations in other genes suggested to play a critical role in COVID-19 pathogenesis such as pro-inflammatory cytokines and coagulation indicators.

Gene variants and serum levels of synaptic vesicle and presynaptic plasma membrane proteins in alcohol dependence and their relationship with impulsivity and temperament

ABSTRACT Background: Exocytosis-related gene variants have been suggested to be associated with externalizing behaviors. Objective: This study aimed to examine VAMP2 26 bp Ins/Del, synaptotagmin XI (Syt11) rs3820594 and 33-bp promoter, Syntaxin 1A (Syn-1A) rs1569061 and SNAP-25 rs1051312 and rs3746544 polymorphisms, their serum levels and their relationship with impulsivity, temperament in individuals with alcohol dependence (AD) and healthy controls (HC). Methods: The study included 107 individuals with AD and 104 HCs. Single-nucleotide polymorphisms (SNPs) were studied with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and serum levels with ELISA. Michigan Alcohol Screening Test (MAST), Barratt Impulsiveness Scale-11 (BIS-11) and Temperament Evaluation of Memphis, Pisa, Paris and San Diego Autoquestionnaire (TEMPS-A) were applied. Results: Syn-1A rs1569061 C allele polymorphism was significantly higher in AD group. Syn-1A rs1569061 C allele was associated with 1.5 times increased risk of AD. All serum levels were significantly higher in the HC group. There was a relationship between Syn-1A rs1569061 polymorphism and BIS-11 motor impulsiveness in the AD group; Syt11 rs3820594 polymorphism and BIS-11 total, TEMPS-A depressive, hyperthymia in the HC group. Discussion: In our study, gene variants and serum levels of synaptic vesicle and presynaptic plasma membrane proteins were related to AD, impulsivity and temperament.