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Osteoporosis is a common age-related skeletal disease, characterized by changes in the microarchitectural structure of bone tissue and decreased bone mass, especially affecting postmenopausal women. Genetic and environmental factors affecting bone metabolism play a role in the development of osteoporosis. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in the conversion of homocysteine to methionine. Genetic variations in the MTHFR gene lead to impaired function or inactivation of this enzyme. A decrease in MTHFR enzyme activity and an increase in homocysteine levels affect bone metabolism. In this study, we aimed to investigate the relationship between C677T and A1298C polymorphisms and osteoporosis in Turkish postmenopausal women. DNA samples were extracted from 200 volunteers. The PCR-RFLP technique was used to identify the MTHFR gene polymorphisms C677T and A1298C. The statistical significance of the analysis's results was assessed. C677T genotype and allele frequency distributions were not statistically different between postmenopausal osteoporosis and healthy control groups (p = 0.249, p = 0.754), while A1298C genotype and allele frequency distributions were found to be statistically significant (p = 0.002, p = 0.013). The results of our study showed that the A1298C polymorphism may be a genetic factor associated with osteoporosis in this specific population. However, the C677T polymorphism did not show a significant connection. To gain a more comprehensive understanding of the genetic basis of osteoporosis, future research with larger sample sizes and the consideration of additional genetic and environmental factors is essential. Additionally, it is crucial to account for ethnic disparities, gene-gene interactions, and gene-environment interplays. These insights can inform the development of personalized preventive and therapeutic strategies for individuals at risk of osteoporosis in diverse populations.
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Background and Objectives: There is a lack of studies examining balance problems and Achilles tendon thickness in prediabetes despite their common occurrence in diabetes mellitus. The aim of this study was to evaluate Achilles tendon size and static and dynamic balance, as well as the role of the Achilles tendon in balance, in prediabetic patients. Materials and Methods: A total of 96 participants were divided into three groups: (1) the control group, consisting of participants without diabetes mellitus; (2) the prediabetes group; and (3) the diabetes mellitus group. Ultrasonographic measurements of Achilles tendon sizes (thickness, width and area) were performed. Dynamic balance was assessed using the Berg Balance Scale, and static balance (the Fall and Stability Indices) was assessed using a Tetrax device. The Self-Leeds Assessment of Neuropathic Symptoms and Signs was utilized to identify neuropathic pain. Results: In the prediabetes group, the median dynamic balance scores [54.0 (51.0-56.0)] were lower than those of the control group [55.0 (54.0-56.0)] but higher than those of the patients with diabetes mellitus [52.50 (49.0-54.25)]; however, this difference did not reach statistical significance. The ultrasonographic measurements of the Achilles tendon size were similar among the three groups. On the other hand, in the prediabetes group, a positive correlation was observed between the bilateral Achilles tendon anterior-posterior thickness and Fall Index score (p = 0.045), while a negative correlation was found between the left Achilles tendon anterior-posterior thickness and the Berg Balance Score (p = 0.045). Conclusions: In prediabetes, neither Achilles tendon size nor static or dynamic balance appears to be significantly affected. However, in prediabetic patients, increased Achilles tendon thickness appears to be associated with increased risk of falls and decreased balance.
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Tendão do Calcâneo , Equilíbrio Postural , Estado Pré-Diabético , Ultrassonografia , Humanos , Tendão do Calcâneo/diagnóstico por imagem , Tendão do Calcâneo/fisiopatologia , Estado Pré-Diabético/fisiopatologia , Estado Pré-Diabético/complicações , Estado Pré-Diabético/diagnóstico por imagem , Masculino , Ultrassonografia/métodos , Feminino , Pessoa de Meia-Idade , Adulto , Equilíbrio Postural/fisiologia , Idoso , Estudos de Casos e ControlesRESUMO
PURPOSE: Altered corneal biomechanics in patients with diabetes may affect intraocular pressure (IOP) measurements. Although a relationship between IOP and glucose levels has been reported in diabetic and nondiabetic patients, the mechanism by which hyperglycemia influences IOP is unclear. The aim of this study was to determine the effects of hyperglycemia on IOP, corneal biomechanics, and anterior segment parameters during the oral glucose tolerance test (OGTT) in nondiabetic patients. METHODS: Twenty-one patients without DM who underwent OGTT were included in this study. A complete ophthalmologic examination was performed before the test. Blood glucose, insulin level, IOP (iCare rebound tonometer), Ocular Response Analyzer, and corneal topography (Pentacam) measurements were obtained at 0, 1, and 2 h during the OGTT. Data from the patients' right eyes were included in the analysis. RESULTS: The mean age of the patients was 46.9 ± 11.0 years. There was a statistically significant difference in IOP between 1 and 2 h (p = 0.03) and a clinically significant difference between 0 and 1 h (p = 0.06). Corneal resistance factor was lower at 2 h than 1 h (p = 0.03), while central cornea thickness was increased at 1 h (p = 0.01) and 2 h (p = 0.05) compared to 0 h. There was positive partial correlation between hyperglycemia and IOP at 1 h (p = 0.049, r = 0.67). CONCLUSION: The positive partial correlation between IOP and glucose level suggests that acute hyperglycemia may lead to increased IOP. However, further research is needed to explain the mechanism of IOP elevation in the hyperglycemic phase during OGTT.
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Glicemia , Córnea , Topografia da Córnea , Teste de Tolerância a Glucose , Hiperglicemia , Pressão Intraocular , Tonometria Ocular , Humanos , Pressão Intraocular/fisiologia , Feminino , Teste de Tolerância a Glucose/métodos , Masculino , Córnea/fisiopatologia , Córnea/diagnóstico por imagem , Córnea/patologia , Pessoa de Meia-Idade , Hiperglicemia/fisiopatologia , Hiperglicemia/diagnóstico , Glicemia/metabolismo , Glicemia/análise , Fenômenos Biomecânicos , Topografia da Córnea/métodos , AdultoRESUMO
BACKGROUND: The aim of this study was to investigate the methylenetetrahydrofolate reductase (MTHFR) 677 C > T gene polymorphism in term infants born small (SGA), appropriate (AGA), and large for gestational age (LGA). METHODS: The study comprised 165 newborns with SGA, LGA and AGA. Genomic DNA was isolated from the peripheral blood. Samples were genotyped for MTHFR 677 C > T gene polymorphisms using PCR-RFLP. RESULTS: There was a statistically significant difference between the genotype and their allelic distribution of AGA, SGA, and LGA. The newborns carrying the TT genotype had higher birth weight than those carrying the CC and CT genotypes. The frequency of MTHFR 677 TT genotype and T allele was significantly higher and was found to be linked with a higher risk in LGA than in the AGA group. CONCLUSIONS: The MTHFR 677 C > T gene polymorphism can be used as a genetic marker in Turkish LGA newborns, but not in SGA.
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Peso ao Nascer , Recém-Nascido Pequeno para a Idade Gestacional , Metilenotetra-Hidrofolato Redutase (NADPH2) , Polimorfismo de Nucleotídeo Único , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Recém-Nascido , Feminino , Masculino , Peso ao Nascer/genética , Genótipo , Idade Gestacional , Frequência do Gene , TurquiaRESUMO
Mental fatigue (MF) occurs when a demanding cognitive-task is performed over a long period of time, making it difficult to continue daily tasks and maintain balance. The aim of this investigation was to determine whether the Stroop test induces mental fatigue and to examine its effects on static balance. The study is a quasi-experimental design with pre-post testing. Twenty participants (19-44) were included. Static posturography was used to evaluate balance at baseline following a 25-min relaxation period of rest and in the MFC (mental-fatigue condition) following the induction of MF with the Stroop test. The other measurements were the Multidimensional Fatigue Inventory (MFI), Fatigue Severity Scale (FSS), and Visual Analogue Scale (VAS). The study found that mental fatigue significantly increased at MFC compared to baseline, as indicated by MFI (p=.031) and FSS (p=.007) results with moderate effect sizes (d = 0.52, d = 0.67, respectively). Similarly, the study found a statistically significant increase in mental fatigue as measured by VAS results (p=.000, d = 0.95). However, the study did not find any statistically significant impairment in static balance due to mental fatigue in healthy young subjects. The results suggest that the Stroop test can induce mental fatigue, but it does not impair static balance.
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Fadiga Mental , Equilíbrio Postural , Teste de Stroop , Humanos , Fadiga Mental/fisiopatologia , Adulto , Masculino , Feminino , Equilíbrio Postural/fisiologia , Adulto JovemRESUMO
OBJECTIVE: The popularity of intravenous immunoglobulin (IVIG) therapy in Acute Respiratory Distress Syndrome (CARDS) secondary to COVID-19 infection is increasing day by day. In this study, we aimed to retrospectively evaluate the possible cardiac effects in our CARDS patients treated with IVIG. METHODS: Demographic and clinical characteristics, mortality, sequential electrocardiography (ECG), echocardiography, cardiac markers, and other laboratory parameters of CARDS patients who received IVIG treatment were recorded. RESULTS: The mean age of the patients was 68.7±13.6%, and 70.5% were female. The mean number of days of hospitalization in the intensive care unit was 18.2±9.7, and the mortality rate was recorded as 35.2%. No pathological rhythm or ischemic change was observed in sequential ECG follow-ups. However, in consecutive ECO follow-ups, the sPAP values at the treatment end were numerically lower, although not statistically significant. CONCLUSION: Our study suggests that IVIG therapy may be used safely in COVID-19 patients with cardiovascular side effects. However, due to the high risk of coagulopathy in these patients, the use of IVIG therapy in COVID-19 infection should be monitored with close monitoring, as it may increase the potential for cardiovascular risk. Furthermore, monitoring cardiac parameters are also essential as it may predict high cardiovascular risk in patients. For this reason, patients need lower infusion rates, steroid combination, adequate hydration, and effective anticoagulation therapy to avoid these side effects.
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OBJECTIVES: To demonstrate cerebral arterial flow volume changes during the hypothyroid, euthyroid, and hyperthyroid phases and comparing between laboratory findings and cerebral arterial flow changes with carotid-vertebral duplex Doppler ultrasound (CVA-DUSG) in subclinical Hashimoto thyroiditis (HT) patients. METHODS: According to the TSH level, 3 groups were constructed between patient cases. Group 1 (n=29) was the subclinical hyperthyroid group. In this group, the TSH level was between 0.0005 and 0.3 IU/ml. Group 2 (n=175) was the euthyroid group. TSH level in this group was between 0.3 and 4.2 IU/ml. Group 3 (n=76) was the subclinical hypothyroid group. In this group, the TSH level was above 4.2 IU/ml. The control-group (group 4) (n=71) included healthy people. In this group, the TSH level was between 0.3 and 4.2 IU/ml. After obtaining at least three consecutive waves from the bilateral internal cerebral artery and bilateral vertebral artery, volume flows were calculated using CVA-DUSG. Volume flows were calculated as peak systolic velocity + end diastolic velocity/2 × mean arterial diameter. The mean ICA(Internal Carotid Artery) and VA(Vertebral Artery) diameter was measured per ICA and VA. Total cerebral artery flow volume was defined as right ICA + right VA flow volume and left ICA + left VA flow volume. We also demonstrated topographic cerebral artery blood flow changes. Total ICA flow volume was used to assess the anterior part of the brain, total VA flow volume was used to evaluate the posterior part of the brain, right ICA + right VA flow volume was used to assess the right part of the brain, and left ICA + left VA flow volume was used to verify the left part of the brain. RESULTS: There were significant differences between RVA(Right Vertebral Artery) flow volume, LICA (Left Internal Carotid Artery) flow volume, total flow volume, TSH, and T3 and T4 levels in all groups according to the Dunn's multiple comparison test.(p<0.001) Mean TSH level was 0.03 (0.005-0.06) IU/ml in group 1, 2.8 (1.8-3.97) IU/ml in group 2, 7.32 (6.14-9.93) IU/ml in group 3, and 1.76 (1.17-2.49) IU/ml in the control group. The mean T3 level was 4.18 (3.55-5.38) in group 1, 2.88 (2.63-3.16) in group 2, 2.82 (2.49-3.15) in group 3, 3.14 (2.92-3.15) in the control group. The mean T4 level was 1.92 (1.29-2.5) in group 1, 1.16(1.03-1.31) in group 2, 1.01 (0.91-1.16) in group 3, 1.12 (0.97-1.30) in the control group (group 4). Mean total flow volume was 793 (745-898) ml/min in group 1, 742 (684.25-822.5) ml/min in group 2, 747 (692-824) ml/min in group 3, and 700 (673-675) ml/min in the control group. We also demonstrated topographic cerebral arterial volume flow changes with CVA-DUSG. There was a significant difference among all groups in the right and anterior parts of the brain (p < 0.001), and there was a significant difference between groups 1 and 4 in the left part of the brain (p = 0.009). CONCLUSION: This study demonstrated that total cerebral arterial volume flow increased in the hyperthyroid phase of subclinical HT cases without any internal carotid and vertebral artery diameter changes compared with the euthyroid and hypothyroid phases of subclinical HT and healthy cases. We also verified topographic cerebral arterial blood flow changes in subclinical HT cases with a real-time, easily applicable modality (CVA-DUSG) that does not include X-ray or contrast agents. There was a significant difference between all groups in the right and anterior parts of the brain and there was a significant difference between groups 1 and 4 in the left part of the brain.
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Doença de Hashimoto , Artéria Vertebral , Pessoa de Meia-Idade , Humanos , Artéria Vertebral/diagnóstico por imagem , Artéria Vertebral/fisiologia , Doença de Hashimoto/diagnóstico por imagem , Velocidade do Fluxo Sanguíneo/fisiologia , Ultrassonografia Doppler , TireotropinaRESUMO
BACKGROUND: The primary worry of parents/caregivers in relation to fever is the potential for their child to experience a seizure as a result. The literature suggests that parents/caregivers need to be informed about febrile convulsion. Thus, this study sought to develop the 'Febrile Convulsion Knowledge Scale for Parents/Caregivers'. DESIGN AND METHODS: It is a methodological study comprising 984 parents/caregivers who were accessible online between 07/04/2021 and 30/06/2022. After creating the scale item pool's construction, expert opinions were sought to evaluate the scale, and a content validity analysis was conducted. Subsequent analysis included exploratory and confirmatory factor analyses, Cronbach's Alpha, and a test-retest reliability assessment of the scale data. RESULTS: The scale was found to consist of 8 items and 3 factors according to the factor analyses. Exploratory factor analysis indicated that the scale explained 72.783% of the variance. The scale's reliability analysis produced a Cronbach's Alpha score of 0.679, indicating good internal consistency, and it was consistent with test-retest measures (t = -0.660, p = 0.514). CONCLUSIONS: It has been determined that the scale is a valid and reliable scale for evaluating the knowledge of parents/caregivers regarding febrile convulsions. PRACTICE IMPLICATIONS: It is advisable for pediatric nurses to routinely use the devised scale with families of children who are vulnerable to febrile convulsion and impart instruction based on the findings derived from the scale.
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INTRODUCTION AND OBJECTIVES: Premature ejaculation (PE) is characterized by shorter intravaginal ejaculation latency time than it is acceptable for the patient or partner. It is thought that lifelong PE is a neurobiological dysfunction associated with genetic predisposition and with central serotonin neurotransmission dysfunction in receptors. To contribute to the understanding the genetic etiology of lifelong PE, it was planned to compare the 5-HT2C receptor gene rs3813929, rs518147, 5-HT1A receptor gene rs6295, 5-HT1B receptor gene rs11568817 of lifelong PE patients to healthy controls. MATERIALS AND METHODS: For this purpose, 100 patients with premature ejaculation and 100 healthy controls were included in the study. Blood samples for DNA extraction were obtained. Appropriate procedures were applied to the probes (rs3813929, rs518147, rs6295, rs11568817) suitable for the DNA studied. RESULTS: A statistically significant relationship was found between the rs11568817 polymorphism (p=0.019) in the 5-HT1B receptor gene and the rs518147 polymorphism (p=0.016) in the 5-HT2C receptor gene. Also, no statistically significant relationship was found between 5-HT1A receptor gene rs6295 polymorphism and 5-HT2C receptor gene rs3813929 polymorphism and lifelong PE. CONCLUSIONS: The relationship between rs3813929 and rs11568817 polymorphisms with lifelong PE was confirmed. Repeating the study in larger sample groups could be useful in determining the genetic etiology of PE.
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Ejaculação Precoce , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Ejaculação Precoce/etiologia , Receptor 5-HT1A de Serotonina/genética , Receptor 5-HT1B de Serotonina/genética , Receptor 5-HT2C de Serotonina/genética , SerotoninaRESUMO
OBJECTIVES: This study aims to evaluate the cost expenses and rehabilitation share of hand and/or wrist injuries and to contribute to the development of health and economic policies. PATIENTS AND METHODS: A total of 59 patients (55 males, 4 females; mean age: 39.1±11.3 years; range, 20 to 64 years) who presented with hand and/or wrist injuries between January 2015 and December 2017 were retrospectively reviewed. Demographic data, hand injury information, and the Modified Hand Injury Severity Scores (MHISS) were retrieved from the patient file system. The cost analysis with direct and indirect costs was performed. RESULTS: According to the MHISS, 27.1% of patients had a minor injury, 23.7% had a moderate injury, 18.6% had a severe injury, and 30.5% had a major injury. The mean direct cost of the patients was $726.00±641.87 and the total cost of the indirect cost was $2,776.93±1,619.00. The mean day-off time was 125±68.62 days. Indirect costs accounted for 79% of the total cost. The mean cost of rehabilitation was $150.18±86.88. Rehabilitation costs accounted for 4% of the total cost. There was a positive correlation between the MHISS and direct, indirect and total cost, but not between the MHISS and rehabilitation cost. CONCLUSION: The proportion of the share allocated to rehabilitation expenditures, which is the subunit of direct cost, is low and not related to the injury severity. The data obtained from the study contributed to the creation of evidence-based health and economic policies. We believe that these data also contribute to the planning of rehabilitation services according to the severity of injury which would improve the quality of life and return to work.
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AIM: There is a lack of an overview of the factors associated with postacute COVID-19 musculoskeletal symptoms. The aims of this study were as follows: 1- to evaluate the most frequent admission symptoms and the frequency of musculoskeletal symptoms in postacute COVID-19 patients; and 2- to determine the related factors with the postacute COVID-19 musculoskeletal symptoms. METHODS: A total of 280 postacute COVID-19 patients (183 females, 97 males) were enrolled and divided into two groups: 1- patients whose musculoskeletal symptoms initiated with or were aggravated by COVID-19 (n = 240); and 2- patients whose musculoskeletal symptoms did not change with COVID-19 (n = 40). The variables were demographic and treatment data, symptoms on admission, postacute COVID-19 symptoms, laboratory results (complete blood count, erythrocyte sedimentation rate, C-reactive protein, ferritin and d-dimer), chest computed tomography findings and symptoms during acute COVID-19. RESULTS: Most of the patients have fatigue (71.8%), spine pain (70.7%) and myalgia (60.7%). The most common pain region was the back (30.4%). The frequency of dyspnoea was 30%, cough 18.5% and chest pain 10.7%. Having any chronic disease (P = .031), the duration of hospital stay (P = .016), frequency of back pain during acute COVID-19 (P = .018), tomography findings and d-dimer (P = .035) levels were significantly higher, and lymphocyte (P = .024) levels were significantly lower in the patients whose symptoms began with or were aggravated by COVID-19. CONCLUSION: Back pain was the most frequent symptom on admission. The most common postacute COVID-19 musculoskeletal symptoms were fatigue, spine pain and myalgia. Lower lymphocyte and higher d-dimer levels, the presence of COVID-19 findings in tomography and back pain during acute COVID-19 infection, higher duration of hospital stay and having chronic diseases were related to post-COVID-19 musculoskeletal symptoms.
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COVID-19 , Dor no Peito , Dispneia , Feminino , Hospitalização , Humanos , Masculino , SARS-CoV-2RESUMO
OBJECTIVES: The aim of this study was to evaluate complex regional pain syndrome (CRPS) following hand/wrist injuries. METHODS: The sociodemographic characteristics of the patients and details regarding the presence of an occupational accident, the type of hand/wrist injury (bone, tendon, nerve, mixed), the Modified Hand Injury Severity Score (MHISS) (minor, moderate, severe, major), and the presence of CRPS were obtained from the hospital information system and analyzed. RESULTS: A total of 311 patient files were included in the study. In all, 23.8% of the patients developed CRPS and 49.2% had mixed-type injuries. There was a relationship between the lesion type and the development of CRPS: a mixed type of injury was most common (p=0.015). Isolated nerve injuries were also associated with the development of CRPS (p=0.001). A significant difference was noted in the MHISS and CRPS occurrence in cases of major injury (p=0.003). CONCLUSION: A high MHISS and/or nerve injury in patients with hand/wrist injuries may be a risk factor for the development of CRPS.
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Síndromes da Dor Regional Complexa , Traumatismos da Mão , Traumatismos do Punho , Síndromes da Dor Regional Complexa/epidemiologia , Mãos , Traumatismos da Mão/complicações , Traumatismos da Mão/epidemiologia , Humanos , Fatores de RiscoRESUMO
BACKGROUND AND PURPOSE: In subarachnoid hemorrhage (SAH), impairments in motor and cognitive functions may occur and continue in later periods. MicroRNAs (miRNAs) are small non-coding RNAs that can directly or indirectly affect synaptic reconstruction. mir-132, mir-134, and mir-138 are the leading miRNAs that can be effective on some neurological functions through its effects on synaptic plasticity in the relevant brain areas. In our study, it was aimed to determine the levels of miRNAs in the hippocampus and frontal lobe of rats exposed to different environmental conditions after the experimental SAH. METHODS: SAH was created using the cisterna magna double blood-injection method. Brain tissues were collected at different times after the last blood injection. Rats were grouped according to the different environmental conditions in which they were kept. Expression levels of miRNAs were performed by qPCR and ultrastructural changes in samples were determined by transmission electron microscopy (TEM). RESULTS: After SAH, miR-132, miR-134, and miR-138 expressions in the frontal lobes of rats increased in impoverished environment on the 7th day and in the enriched environment on the 14th day. It was observed that the myelin and microtubule structures in the axons that were disrupted after SAH were more organized and stable in the enriched environment. CONCLUSIONS: After SAH, different environmental conditions may affect the miRNA levels associated with synaptic plasticity and microtubule organization in the frontal lobe, and this might have some effects especially on cognitive and motor functions related to this brain area.
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Lobo Frontal/metabolismo , Hipocampo/metabolismo , MicroRNAs/metabolismo , Microtúbulos/metabolismo , Plasticidade Neuronal , Neurônios/metabolismo , Hemorragia Subaracnóidea/metabolismo , Animais , Modelos Animais de Doenças , Feminino , Lobo Frontal/ultraestrutura , Hipocampo/patologia , MicroRNAs/genética , Microtúbulos/genética , Microtúbulos/ultraestrutura , Neurônios/ultraestrutura , Ratos Sprague-Dawley , Hemorragia Subaracnóidea/genética , Hemorragia Subaracnóidea/patologiaRESUMO
OBJECTIVES: Exposure to cadmium (Cd), which causes environmental and industrial pollution, causes toxicity in many tissues and organs, especially bone, lung and kidney. Hormones, growth factors and other stimuli act on bone tissue through osteoblasts. In this study, it was aimed to determine the effects of Cd on hFOB1.19 osteoblast cells and the protective and healing potentials of estrogen, androgen and vitamin D against the inhibitory effect of Cd on the proliferation. METHODS: hFOB1.19 cells were cultivated in our laboratory using Dulbecco's Modified Eagle's Medium-F12, HEPES medium, containing 10% fetal bovine serum, 1% penicillin/streptomycin in 34.5 °C 5%CO2 incubator. To determine its protective potentials for the toxicity of CdCl2, it was previously applied 1,25(OH) 2D vitamin, 17ß-estradiol, and 5α-androstane for 72 h to cells. To determine their curative potential, osteoblast cells, which were previously exposed to CdCl2 for 72 h, were administered 1,25(OH) 2D vitamin, 17ß-estradiol, and 5α-androstane. Following these applications were determined proliferation by XTT analysis and, the amounts of androgen receptor, estrogen receptor, vitamin D receptor, alkaline phosphatase, osteocalcin and osteoprotegerin by ELISA analysis. RESULTS: Vitamin D has been both preventive and curative effective to increase cell proliferation, which Cd reduces. Interestingly, estrogen had a preventive effect and androgen had a curative effect. CONCLUSIONS: In addition to showing the negative effects of cadmium on the proliferation of osteoblast cells, this study provides an overview of the effects of hormone and vitamin D applications before and after Cd, and these results may serve as a guide for future studies.
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Cádmio , Osteoblastos/efeitos dos fármacos , Vitamina D , Androgênios , Androstanos , Cádmio/toxicidade , Linhagem Celular , Proliferação de Células , Estradiol/farmacologia , Estrogênios , Humanos , Vitamina D/farmacologia , VitaminasRESUMO
The present study was aimed to investigate the relationship between NOD1/CARD4 and NOD2/CARD15 gene polymorphisms and osteoporosis in the Turkish population. The first time we thought that the functional polymorphisms in NOD1/CARD4 and NOD2/CARD15 genes might have triggered the development of osteoporosis. The objective of our study was to determine the relationship between NOD1/CARD4 and NOD2/CARD15 SNPs and osteoporosis. The NOD1/CARD4 (rs5743336) and NOD2/CARD15 (rs2066847) SNPs were analyzed by PCR restriction fragment length polymorphism (PCR-RFLP) in 94 healthy controls and 164 subjects with osteoporosis. PCR products were digested with restriction enzymes AvaI for NOD1/CARD4 and ApaI for NOD2/CARD15. We found that NOD1/CARD4 genotype distribution of AA, GA and GG were 15, 44 and 41% for patients and 17, 46 and 37% for controls, respectively. NOD2/CARD15 mutation was found only in three patients (1.8%) as heterozygote. The results did not show any statistical difference between NOD1/CARD4 and NOD2/CARD15 genotype distribution of patients and healthy groups (χ2 = 1.740, P=0.187; χ2 = 1.311, P=0.519). However, the most frequent AG genotype (46%) of NOD1/CARD4 was observed in healthy controls, GG genotype (44%) of NOD1/CARD4 was observed as the most frequent in osteoporotic patients. NOD2/CARD15 WT/WT genotype, the most frequent genotype, was observed in both groups. Statistical analysis revealed that NOD1/CARD4 and NOD2/CARD15 polymorphisms are not associated with osteoporosis. However, a definite judgement is difficult to be made due to restricted number of patients and small size of control group. Further research is sorely warranted in this direction.
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Predisposição Genética para Doença , Proteína Adaptadora de Sinalização NOD1/genética , Proteína Adaptadora de Sinalização NOD2/genética , Osteoporose/genética , Absorciometria de Fóton , Adulto , Idoso , Densidade Óssea/genética , Densidade Óssea/imunologia , Estudos de Casos e Controles , Feminino , Voluntários Saudáveis , Humanos , Imunidade Inata/genética , Masculino , Pessoa de Meia-Idade , Osteoporose/diagnóstico , Osteoporose/epidemiologia , Osteoporose/imunologia , Polimorfismo de Fragmento de Restrição , Fatores de Risco , Turquia/epidemiologiaRESUMO
OBJECTIVE: In this study, the relationship between osteoporotic vertebral fractures and 9041 Guanine/Adenine and 3673 Guanine/Adenine polymorphisms related to the vitamin K epoxide reductase complex subunit-1 (VKORC1) gene in postmenopausal women with osteoporosis was investigated. METHOD: DNA was isolated from blood samples collected from 150 women with postmenopausal osteoporosis. Genotyping of the two polymorphic regions (9041 Guanine/Adenine and 3673 Guanine/Adenine) in VKORC1 was performed using polymerase chain reaction-restriction fragment length polymorphism analysis. The presence of radiographic fractures among the 150 patients was ascertained by using the Genant method. RESULT: At least one fracture was detected in 98 patients, and no fracture was observed in 52 patients on radiological images. We found no association between the 9041 Guanine/Adenine (p=0.283) and 3673 Guanine/Adenine (p=0.232) polymorphisms of the VKORC1 gene and the development of secondary postosteoporotic fractures in our study. CONCLUSION: There was no relationship between osteoporotic vertebral fracture and VKORC1 gene polymorphism in a postmenopausal Turkish population.
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Osteoporose Pós-Menopausa/genética , Fraturas por Osteoporose/genética , Polimorfismo Genético/genética , Fraturas da Coluna Vertebral/genética , Vitamina K Epóxido Redutases/genética , Idoso , Densidade Óssea , Feminino , Frequência do Gene/genética , Estudos de Associação Genética , Humanos , Pessoa de Meia-Idade , Projetos Piloto , Estudos Retrospectivos , TurquiaRESUMO
OBJECTIVE: In this study, the relationship between osteoporotic vertebral fractures and 9041 Guanine/Adenine and 3673 Guanine/Adenine polymorphisms related to the vitamin K epoxide reductase complex subunit-1 (VKORC1) gene in postmenopausal women with osteoporosis was investigated. METHOD: DNA was isolated from blood samples collected from 150 women with postmenopausal osteoporosis. Genotyping of the two polymorphic regions (9041 Guanine/Adenine and 3673 Guanine/Adenine) in VKORC1 was performed using polymerase chain reaction-restriction fragment length polymorphism analysis. The presence of radiographic fractures among the 150 patients was ascertained by using the Genant method. RESULT: At least one fracture was detected in 98 patients, and no fracture was observed in 52 patients on radiological images. We found no association between the 9041 Guanine/Adenine (p=0.283) and 3673 Guanine/Adenine (p=0.232) polymorphisms of the VKORC1 gene and the development of secondary postosteoporotic fractures in our study. CONCLUSION: There was no relationship between osteoporotic vertebral fracture and VKORC1 gene polymorphism in a postmenopausal Turkish population.
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Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Polimorfismo Genético/genética , Osteoporose Pós-Menopausa/genética , Fraturas da Coluna Vertebral/genética , Fraturas por Osteoporose/genética , Vitamina K Epóxido Redutases/genética , Turquia , Densidade Óssea , Projetos Piloto , Estudos Retrospectivos , Estudos de Associação Genética , Frequência do Gene/genéticaRESUMO
OBJECTIVES: To investigate the three single nucleotide polymorphisms (SNPs) (rs3825942, rs1048661, and rs2165241) of the LOXL1 gene in pseudoexfoliation syndrome (XFS) and pseudoexfoliation glucoma (XFG) in the Turkish population. MATERIALS AND METHODS: DNA was obtained from blood samples of 48 XFS, 58 XFG, and 171 control subjects. Three LOXL1 SNPs (rs3825942, rs1048661, rs2165241) were investigated with real time PCR, a probe-based genotyping method, and melting curve analysis. RESULTS: All three SNPs of LOXL1 were significantly associated with XFS (rs3825942 p=3.54x10-6, odds ratio [OR]=∞; rs1048661 p=0.008, OR=2.18; rs2165241 p=8.69x10-9, OR=4.30) and XFG (rs3825942 p=3.41x10-7, OR=∞; rs1048661 p=1.75x10-5, OR=3.78; rs2165241 p=3.85x10-11 OR=4.90). No significant differences were observed between the XFS and XFG groups for any of the SNPs. The GG genotype of rs3825942 was more valuable for distinguishing pseudoexfoliative cases from healthy individuals. The homozygous TT genotype of rs2165241 was associated with 6-fold increased XFS risk (p=8.15x10-8, OR=6.32) and 7-fold increased XFG risk (p=1.45x10-10 OR=7.95). The GGT haplotype consisting of all three risk alleles was associated with a 7.45-fold higher risk of XFS/XFG (p=8.65x10-14, OR=7.45). Presence of T allele of rs2165241 conferred 3 times higher risk for men than women (p=6.78x10-5, OR=3.202). CONCLUSION: LOXL1 SNPs are associated with increased risk for pseudoexfoliation in the Turkish population. T allele of rs2165241 was found to be the most important characterized risk factor for our cohort. All SNP distributions were similar to other European and American populations.
RESUMO
Contrast-induced nephropathy (CIN) is associated with worse prognosis in patients with acute coronary syndrome (ACS). Early identification and intervention for patients with a high risk of CIN are very important to improve clinical outcomes. Inflammation plays important role in the development of CIN in the setting of ACS. The monocyte to high-density lipoprotein ratio (MHR) is a novel inflammatory marker. Bleeding is also associated with worse prognosis in such patients. We aimed to investigate whether the preprocedural MHR had a predictive role for CIN development in such patients. In addition, using the thrombolysis in myocardial infarction classification, we aimed to assess whether there was any relationship between bleeding and CIN. A total of 647 patients (496 males; age: 63.3 ± 12.7 years) with ACS who underwent percutaneous coronary intervention (PCI) were included in the study. Seventy patients (10.8%) had developed CIN. Age, diabetes mellitus, contrast volume, estimated glomerular filtration rate, and MHR were independent predictors for CIN. Preprocedural MHR may be used as a simple marker of CIN. It may help with the early identification of patients with ACS who underwent PCI who are at high risk of CIN thus allowing the planning of protective measures.
Assuntos
Síndrome Coronariana Aguda/complicações , Meios de Contraste/efeitos adversos , Nefropatias/induzido quimicamente , Lipoproteínas HDL/sangue , Monócitos/citologia , Síndrome Coronariana Aguda/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Angiografia Coronária/efeitos adversos , Feminino , Taxa de Filtração Glomerular , Humanos , Nefropatias/complicações , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/etiologia , Intervenção Coronária Percutânea , Medição de Risco , Fatores de RiscoRESUMO
BACKGROUND: The development of atrial fibrillation (AF) during the course of acute coronary syndrome (ACS) is related to poor prognosis. Possible predictors of new-onset AF (NOAF) have not been adequately investigated in elderly patients with ACS undergoing percutaneous coronary intervention (PCI). We aimed to identify the factors associated with NOAF in such patients. METHODS: A total of 308 elderly patients with ACS undergoing PCI were enrolled in the study. Patients were divided into two groups: without NOAF [254 patients, 64.6% men, age: 73.5 (69.0-79.0) years] and with NOAF [54 patients, 70.4% men, age: 75.0 (68.7-81.2) years]. Clinical, angiographic, and laboratory features including neutrophil-to-lymphocyte ratio (NLR) and monocyte-to-high-density lipoprotein ratio (MHR) were compared between the groups. RESULTS: The percentages of prior myocardial infarction (MI) (20.4 vs. 5.9%) and Killip III/ IV (24.1 vs. 7.1%), NLR [4.5 (2.6-7.2) vs. 3.2 (2.0-6.0)], and MHR [19.4 (15.7-26.5) vs. 12.9 (9.9-18.5)] were higher in patients with NOAF compared to the others (p = 0.020, < 0.001, 0.030, and < 0.001, respectively). In multivariate regression analysis, prior MI (OR 4.509, 95% CI 1.679-12.106, p = 0.003) and MHR (OR 1.102, 95% CI 1.054-1.152, p < 0.001) independently predicted NOAF. In addition, Killip III/IV was found to be an independent predictor of 6-month overall mortality (HR 2.949, 95% CI 1.218-7.136, p = 0.016). CONCLUSIONS: Prior MI and MHR are independent predictors of NOAF in elderly patients with ACS undergoing PCI. Killip III/IV predicts 6-month overall mortality in such patients.