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1.
Sci Rep ; 14(1): 8431, 2024 04 10.
Article in English | MEDLINE | ID: mdl-38600135

ABSTRACT

A panel comprising of 84 Turkish winter wheat landraces (LR) and 73 modern varieties (MV) was analyzed with genome wide association study (GWAS) to identify genes/genomic regions associated with increased yield under favorable and drought conditions. In addition, selective sweep analysis was conducted to detect signatures of selection in the winter wheat genome driving the differentiation between LR and MV, to gather an understanding of genomic regions linked to adaptation and yield improvement. The panel was genotyped with 25 K wheat SNP array and phenotyped for agronomic traits for two growing seasons (2018 and 2019) in Konya, Turkey. Year 2018 was treated as drought environment due to very low precipitation prior to heading whereas year 2019 was considered as a favorable season. GWAS conducted with SNPs and haplotype blocks using mixed linear model identified 18 genomic regions in the vicinities of known genes i.e., TaERF3-3A, TaERF3-3B, DEP1-5A, FRIZZY PANICLE-2D, TaSnRK23-1A, TaAGL6-A, TaARF12-2A, TaARF12-2B, WAPO1, TaSPL16-7D, TaTGW6-A1, KAT-2B, TaOGT1, TaSPL21-6B, TaSBEIb, trs1/WFZP-A, TaCwi-A1-2A and TaPIN1-7A associated with grain yield (GY) and yield related traits. Haplotype-based GWAS identified five haplotype blocks (H1A-42, H2A-71, H4A-48, H7B-123 and H7B-124), with the favorable haplotypes showing a yield increase of > 700 kg/ha in the drought season. SNP-based GWAS, detected only one larger effect genomic region on chromosome 7B, in common with haplotype-based GWAS. On an average, the percentage variation (PV) explained by haplotypes was 8.0% higher than PV explained by SNPs for all the investigated traits. Selective sweep analysis detected 39 signatures of selection between LR and MV of which 15 were within proximity of known functional genes controlling flowering (PRR-A1, PPR-D1, TaHd1-6B), GY and GY components (TaSus2-2B, TaGS2-B1, AG1-1A/WAG1-1A, DUO-A1, DUO-B1, AG2-3A/WAG2-3A, TaLAX1, TaSnRK210-4A, FBP, TaLAX1, TaPIL1 and AP3-1-7A/WPA3-7A) and 10 regions underlying various transcription factors and regulatory genes. The study outcomes contribute to utilization of LR in breeding winter wheat.


Subject(s)
Genome-Wide Association Study , Triticum , Triticum/genetics , Seasons , Quantitative Trait Loci , Droughts , Turkey , Plant Breeding , Phenotype , Edible Grain/genetics , Genomics
2.
Res Theory Nurs Pract ; 38(2): 211-226, 2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38663964

ABSTRACT

Background: Given the lack of validated tools to assess fear in Turkish children, this research aims to address this gap by conducting a methodological study to examine the validity and reliability of the Fear Scale, thereby providing health care professionals and researchers with a reliable instrument to evaluate fear levels in this population. Methods: The research was conducted on 150 children aged 4-12 years and their parents who applied to the pediatric blood collection unit of Koç University Faculty of Medicine Hospital. In the study, the "Sociodemographic Characteristics Form," "Fear Scale," and "Child Fear Scale" were used for data collection. Results: A very high statistically significant positive relationship was obtained between the Fear Scale and the Child Fear Scale (r = .973; p < .001). The high correlation value between the two forms indicates that the child form is valid. The content validity index and item content validity index values of the scale were found to be 0.98. A very good level of statistically significant agreement was achieved between the Fear Scale and the Child Fear Scale (κ = .878; p < .001). Conclusion: It was found that the Turkish psychometric properties of the Fear Scale are valid and reliable for children aged 4-12 years. It is suggested that pediatric nurses use the scale in clinics to evaluate their fear about procedural operations.


Subject(s)
Fear , Psychometrics , Humans , Turkey , Child, Preschool , Male , Female , Child , Reproducibility of Results , Self-Assessment , Surveys and Questionnaires/standards
3.
Res Theory Nurs Pract ; 38(2): 270-292, 2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38663970

ABSTRACT

Background and Purpose: The study aims to determine the experiences of Turkish mothers with physical disabilities in the care of their children and their expectations from nurses in this process and ensure the establishment of strategic recommendations for nurses in line with these expectations. Methods: This qualitative descriptive study included 21 mothers with physical disabilities of nondisabled children aged 0-18 years. Data analysis was conducted using the traditional content analysis method in the Max Qualitative Data Analysis Analytics Pro 2020 program. Results: Six themes were obtained from the analysis. Of the six themes determined, the themes "Prenatal Emotions and the Need for Support," "Postpartum Emotions and Childcare," "Strategies Facilitating the Care Process," "Child's Safety," "Advantages and Disadvantages," and "Expectations and Recommendations" are related to childcare, while the theme "Expectations and Recommendations" is related to expectations from nurses and other healthcare professionals and recommendations to mothers with physical disabilities. Implications for Practice: The participants stated that nurses' training and attempts to provide information related to their needs resulting from physical disabilities were limited.


Subject(s)
Mothers , Qualitative Research , Humans , Female , Mothers/psychology , Adult , Child , Child, Preschool , Infant , Adolescent , Turkey , Infant, Newborn , Disabled Children , Disabled Persons , Male , Child Care
4.
Res Theory Nurs Pract ; 38(2): 227-251, 2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38663971

ABSTRACT

Background and Purpose: This study was conducted in line with the request of the senior management of a hospital. The objective of the current research is to identify managerial problems through the relationship between health employees' perceptions of organizational justice, trust in the manager and the organization, and job satisfaction; develop a solution proposal over the relationships between these variables and motivation variables; and present a model proposal (BUY Model) as a result. Methods: The study sample is comprised of 673 employees. The study data were collected online using a questionnaire consisting of five scales. The data were analyzed by descriptive statistical methods, correlation analysis, and regression analysis. Results: The findings obtained from the study showed that the participants' perceptions of organizational justice, trust in the manager and the organization, job satisfaction and motivation were generally at a moderate level. The study also determined that trust in the manager and the organization had a partial mediation effect on the effect of organizational justice on job satisfaction and the variables of trust in the organization, organizational justice, and trust in the manager, respectively, and especially, the job satisfaction variable also affected motivation. Conclusion: The BUY model was developed to identify problems related to the management of healthcare human resources and solve these problems. Considering the importance of the concepts of job satisfaction and motivation in terms of employee performance, health service quality, and patient satisfaction, it is thought that the developed model will benefit managers of health institutions in increasing the job satisfaction and motivation levels of health employees.


Subject(s)
Job Satisfaction , Humans , Turkey , Adult , Female , Male , Surveys and Questionnaires , Middle Aged , Models, Organizational
5.
Mol Biol Rep ; 51(1): 577, 2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38664339

ABSTRACT

BACKGROUND: Chromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies. The study aims to determine the clinical significance of chromosomal microarray analysis in this patient group. Another crucial aspect is the evaluation of copy number variants detected in terms of the diagnosis of patients. METHODS AND RESULTS: A Chromosomal microarray analysis was was conducted on a total of 1227 patients and phenotype-associated etiological diagnosis was established in 135 patients. Phenotype-associated copy number variants were detected in 11% of patients. Among these, 77 patients 77 (57%, 77/135) were diagnosed with well-recognized genetic syndromes and phenotype-associated copy number variants were found in 58 patients (42.9%, 58/135). The study was designed to collect data of patients in Kocaeli Derince Training and Research Hospital retrospectively. In our study, we examined 135 cases with clinically significant copy number variability among all patients. CONCLUSIONS: In this study, chromosomal microarray analysis revealed pathogenic de novo copy number variants with new clinical features. Chromosomal microarray analysis in the Turkish population has been reported in the largest patient cohort to date.


Subject(s)
Abnormalities, Multiple , Autism Spectrum Disorder , DNA Copy Number Variations , Developmental Disabilities , Humans , Autism Spectrum Disorder/genetics , Autism Spectrum Disorder/diagnosis , Turkey/epidemiology , DNA Copy Number Variations/genetics , Female , Male , Child , Child, Preschool , Developmental Disabilities/genetics , Developmental Disabilities/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/diagnosis , Adolescent , Phenotype , Infant , Intellectual Disability/genetics , Intellectual Disability/diagnosis , Chromosome Aberrations , Microarray Analysis/methods , Retrospective Studies , Adult
6.
J Diabetes ; 16(5): e13562, 2024 May.
Article in English | MEDLINE | ID: mdl-38664892

ABSTRACT

BACKGROUND: Global variations in epidemiology of type 1 diabetes mellitus (T1DM) exist. This study is designed to examine demographic and clinical features of T1DM over the past 3 decades as well as evolving trends in epidemiology over last 50 years. METHODS: Clinical characteristics of 925 patients with T1DM over last 30 years (1990-2019) were evaluated and compared to previously published data of 477 patients diagnosed between 1969 and 1990 from one of the major referral centers for diabetes in Turkey. RESULTS: Mean age at diagnosis decreased from 9.5 ± 4.0 to 7.1 ± 3.6 years within the past 50 years (p < .001). Age at diagnosis peaked at 12-14 years between 1969 and 1990, then fell to 10-11.9 years between 1990 and 1999, and to 4-5.9 years between 2000-2009 and 2010-2019 (p = .005). Although the percentage of patients diagnosed <6 years of age is gradually increasing, the percentage between the ages of 6 and 11.9 years is decreasing, and the percentage diagnosed ≥12 years remained stable. A total of 47.5% of patients had ketoacidosis, 38.2% had ketosis, and 14.3% had only hyperglycemia. 23% of patients had severe diabetic ketoacidosis (DKA), whereas 42% had moderate. Over last 3 decades, there has been no change in frequency of ketoacidosis at presentation, but there has been significant decline in severity (p = .865, and p < .001, respectively). Although the frequency of patients with mild DKA increased over time, frequency of patients with moderate DKA decreased; however, no significant difference was observed among patients with severe ketoacidosis. DKA was more frequent and severe in patients <6 years of age (p = .005, and p < .001, respectively). CONCLUSION: Age at diagnosis shifted to younger ages in T1DM in the past 50 years. Half of patients had ketoacidosis at diagnosis and frequency of presentation with DKA did not decrease, but severity decreased slightly. Increase in prevalence of T1DM in the younger age group and the fact that half of patients present with DKA indicate that awareness should be increased in terms of early diagnosis and treatment.


Subject(s)
Diabetes Mellitus, Type 1 , Humans , Diabetes Mellitus, Type 1/epidemiology , Adolescent , Child , Male , Female , Child, Preschool , Turkey/epidemiology , Diabetic Ketoacidosis/epidemiology , Age of Onset , Infant , Retrospective Studies , Prevalence
7.
Arch Osteoporos ; 19(1): 29, 2024 Apr 20.
Article in English | MEDLINE | ID: mdl-38642281

ABSTRACT

Although FRAX is used for fracture risk evaluation, this tool does not include balance and fall risk. The association between the predictors of falls and high FRAX scores we found in this study suggests that risk indicators for falls may add substantial value to FRAX by improving fracture risk prediction. PURPOSE: This observational, descriptive, and cross-sectional study aimed to assess the fall risk predictors and explore their association with FRAX in Turkish patients with postmenopausal osteoporosis. METHODS: Two hundred and nine (209) women with postmenopausal osteoporosis referred to the Fracture Liaison Service (FLS) at Istanbul University-Cerrahpasa were enrolled in the FRACT study (The Fracture Study of Turkey). Clinical risk factors were assessed using the FRAX tool. Tandem stance, Tandem walking, Timed up and go (TUG), and Chair stand tests were performed to assess balance and fall risk. RESULTS: Among patients with a mean age of 67.6 (± 9.7) years, 66 patients (31.6%) had osteoporosis without fractures and 143 patients (68.4%) had fragility fractures. The proportion of patients with poor performance of fall prediction tests was significantly higher in patients with a fragility fracture than those with osteoporosis alone. There was an inverse relationship between dynamic balance tests and the reported number of prior falls in the past year. FRAX score was higher in patients with impaired Tandem stance, Tandem walking, and TUG tests (p = 0.008, p = 0.035, p = 0.001, respectively). CONCLUSION: Assessment of fall risk predictors should be one of the major pillars in the physical evaluation of osteoporotic patients in the FLS setting. FRAX is a useful tool to determine the fracture risk of patients with both static and dynamic balance impairments. Combining balance assessment with FRAX may be an important step to optimize osteoporosis risk assessment.


Subject(s)
Osteoporosis, Postmenopausal , Osteoporosis , Osteoporotic Fractures , Humans , Female , Aged , Osteoporosis, Postmenopausal/epidemiology , Osteoporosis, Postmenopausal/complications , Osteoporotic Fractures/etiology , Risk Assessment , Turkey/epidemiology , Cross-Sectional Studies , Bone Density , Osteoporosis/complications , Risk Factors
8.
Ren Fail ; 46(1): 2341787, 2024 Dec.
Article in English | MEDLINE | ID: mdl-38637275

ABSTRACT

BACKGROUND: Immunoglobulin A (IgA) nephropathy (IgAN) treatment consists of maximal supportive care and, for high-risk individuals, immunosuppressive treatment (IST). There are conflicting results regarding IST. Therefore, we aimed to investigate IST results among IgAN patients in Turkiye. METHOD: The data of 1656 IgAN patients in the Primary Glomerular Diseases Study of the Turkish Society of Nephrology Glomerular Diseases Study Group were analyzed. A total of 408 primary IgAN patients treated with IST (65.4% male, mean age 38.4 ± 12.5 years, follow-up 30 (3-218) months) were included and divided into two groups according to treatment protocols (isolated corticosteroid [CS] 70.6% and combined IST 29.4%). Treatment responses, associated factors were analyzed. RESULTS: Remission (66.7% partial, 33.7% complete) was achieved in 74.7% of patients. Baseline systolic blood pressure, mean arterial pressure, and proteinuria levels were lower in responsives. Remission was achieved at significantly higher rates in the CS group (78% vs. 66.7%, p = 0.016). Partial remission was the prominent remission type. The remission rate was significantly higher among patients with segmental sclerosis compared to those without (60.4% vs. 49%, p = 0.047). In the multivariate analysis, MEST-C S1 (HR 1.43, 95% CI 1.08-1.89, p = 0.013), MEST-C T1 (HR 0.68, 95% CI 0.51-0.91, p = 0.008) and combined IST (HR 0.66, 95% CI 0.49-0.91, p = 0.009) were found to be significant regarding remission. CONCLUSION: CS can significantly improve remission in high-risk Turkish IgAN patients, despite the reliance on non-quantitative endpoints for favorable renal outcomes. Key predictors of remission include baseline proteinuria and specific histological markers. It is crucial to carefully weigh the risks and benefits of immunosuppressive therapy for these patients.


Subject(s)
Glomerulonephritis, IGA , Kidney Failure, Chronic , Humans , Male , Adult , Middle Aged , Female , Glomerulonephritis, IGA/drug therapy , Glomerulonephritis, IGA/pathology , Turkey , Kidney Failure, Chronic/therapy , Immunosuppressive Agents/therapeutic use , Adrenal Cortex Hormones , Proteinuria/etiology , Proteinuria/chemically induced , Retrospective Studies , Glomerular Filtration Rate
9.
Medicine (Baltimore) ; 103(16): e37913, 2024 Apr 19.
Article in English | MEDLINE | ID: mdl-38640282

ABSTRACT

The aim of the study is to determine the usefulness of base excess (BE) and creatine kinase (CK) in predicting the extent of damage to the extremities, the need for hemodialysis, and the likelihood of mortality in crush injuries. Our study included patients who were affected by the earthquakes that occurred in Kahramanmaras/Turkey on February 6, 2023 and were diagnosed with crush injuries. The study was a retrospective observational study. We used chi-square test, independent sample t test, analysis of variance (ANOVA) to examine whether CK and BE values can be used to predict damage to the extremities, hemodialysis requirement, and mortality. A total of 299 patients were included in the study. A statistically significant relationship was found between BE and extremity damage, hemodialysis requirement, and mortality (P < .005). A statistically significant difference was also seen in terms of extremity damage and hemodialysis requirement with CK (P < .001), while there was no statistically significant difference seen in mortality (P = .204). BE may serve as a predictive biomarker for the development of extremities damage, hemodialysis requirement, and mortality. CK is not predictive of mortality.


Subject(s)
Crush Injuries , Crush Syndrome , Earthquakes , Humans , Crush Syndrome/therapy , Creatine Kinase , Turkey
10.
BMC Public Health ; 24(1): 1136, 2024 Apr 23.
Article in English | MEDLINE | ID: mdl-38654220

ABSTRACT

BACKGROUND: Low back pain (LBP), though non-life-threatening, burdens healthcare with treatment expenses and work hours lost. Globally, 70-84% experience it, with risk factors tied to societal structure, income, and living conditions, making it a leading cause of disability. METHODS: This study utilized data from the 2019 Türkiye Health Survey, which consisted of 17,084 individuals aged 15 and above. Our study focused on investigating the factors related to low back pain through a cross-sectional analysis. To analyze these factors, we employed binary multivariate logistic regression. Additionally, we conducted post-hoc analyses to assess the potential mediating effect of depressive symptoms on the relationship between low back pain and gender. RESULTS: We found that 31.9% of the population experienced low back pain, with women being 58% more likely [aOR = 1.58; 95% CI (1.45-1.73)] than men to report symptoms. Individuals aged 55 + years old had a 90% [aOR = 1.90; 95% CI (1.61-2.23)] chance of experiencing low back pain, indicating an age-related increase. In the general population, having depressive symptoms was 2.49 [95% CI (2.23-2.78)] times more likely associated with low back pain. Our mediation analysis showed that gender (i.e., women vs. men), indicated by direct effects with ß-estimates e = 0.78, predicted the likelihood of low back pain. Additionally, the relationship between gender and low back pain, mediated through a history of depressive symptoms, had a significant total indirect effect (i.e., ß-estimate given as e = 0.49). Specifically, a history of depressive symptoms accounted for 17.86% [95% CI (9.67-20.10)] of the association between women having a higher likelihood of low back pain compared to men. CONCLUSION: We observed that a higher likelihood of low back pain associated with gender and aging. Additionally, BMI served as a significant predictor, particularly in adults. Depression mediated the association between gender and low back pain. Acknowledging these associations may help identify and address contributing factors to LBP, potentially increasing awareness and alleviating the burden. Policymakers and healthcare professionals may consider these findings when developing prevention and treatment programs for low back pain.


Subject(s)
Depression , Health Surveys , Low Back Pain , Humans , Low Back Pain/epidemiology , Low Back Pain/psychology , Male , Female , Middle Aged , Adult , Cross-Sectional Studies , Depression/epidemiology , Turkey/epidemiology , Sex Factors , Young Adult , Adolescent , Risk Factors , Aged
11.
Rev Assoc Med Bras (1992) ; 70(3): e20231377, 2024.
Article in English | MEDLINE | ID: mdl-38656011

ABSTRACT

OBJECTIVE: The aim of this study was to evaluate depression and sleep quality in Turkish women receiving neoadjuvant or adjuvant chemotherapy for breast cancer and investigate their relationship. METHODS: This cross-sectional, descriptive, and analytical study included 183 patients who received chemotherapy for non-metastatic breast cancer. Data were collected using the Beck Depression Inventory-II, the Pittsburgh Sleep Quality Index, and a disease-related/sociodemographic information form. RESULTS: The mean age of the participants was 50.2 years, and 50.3% were in menopause. The mean Beck Depression Inventory-II score was 19.64±10.4. Mild depression was detected in 25.7% (n=47) of the women, and moderate or severe depression in 55.2% (n=101). The mean global score of sleep quality was found to be 8.28±2.62, and the majority of the participants (79.7%, n=146) had poor sleep quality. There was a positive correlation (p<0.001, r=0.43) between depression and sleep quality scores. While a negative correlation was found between depression scores and age (p<0.001, r=0.26), the surgical procedure performed did not significantly affect depression scores (p=0.705). Additionally, depression scores were positively correlated with sleep duration (p<0.001, r=0.42) and sleep latency (p=0.01, r=0.48). CONCLUSION: Very high rates of depression and poor sleep quality were detected among Turkish women receiving neoadjuvant or adjuvant chemotherapy for breast cancer. The entire healthcare team involved in the treatment process should take this relationship into consideration and use the necessary preventive and therapeutic methods.


Subject(s)
Breast Neoplasms , Depression , Sleep Quality , Humans , Female , Breast Neoplasms/drug therapy , Middle Aged , Cross-Sectional Studies , Turkey/epidemiology , Adult , Depression/epidemiology , Chemotherapy, Adjuvant/adverse effects , Sleep Wake Disorders/epidemiology , Aged , Psychiatric Status Rating Scales , Surveys and Questionnaires , Socioeconomic Factors , Severity of Illness Index , Neoadjuvant Therapy/adverse effects
12.
Turk J Ophthalmol ; 54(2): 69-75, 2024 Apr 19.
Article in English | MEDLINE | ID: mdl-38645270

ABSTRACT

Objectives: Forkhead box P3 (FOXP3) gene polymorphisms have been evaluated in many autoimmune diseases, including Graves' disease (GD), in different populations. However, those polymorphisms have not been analyzed in GD or Graves' ophthalmopathy (GO) in the Turkish population. In this study, we aimed to evaluate the frequency of FOXP3 polymorphisms in GD with or without ophthalmopathy in a Turkish population. Materials and Methods: The study included 100 patients with GO, 74 patients with GD without ophthalmopathy, and 100 age- and sex-matched healthy controls. In all study participants, rs3761547 (-3499 A/G), rs3761548 (-3279 C/A), and rs3761549 (-2383 C/T) single nucleotide polymorphisms (SNPs) were detected using the polymerase chain reaction-restriction fragment length polymorphism method. The chi-square test was used to evaluate genotype and allele frequencies. Odds ratios and 95% confidence intervals were calculated for genotype and allele risks. Results: In the patient group (including GD with or without ophthalmopathy), the rs3761548 AC and AA genotype and rs3761549 CT genotype were significantly more frequent than in the control group (all p<0.05). No genotypic and allelic differences were observed for rs3761547 between the patient and control groups (all p>0.05). There was no statistically significant difference between the GO and GD without ophthalmopathy groups concerning the allele and genotype frequencies of all three FOXP3 SNPs (all p>0.05). Conclusion: The AC and AA genotypes of rs3761548 (-3279) and CT genotype of rs3761549 (-2383 C/T) were shown to be possible risk factors for GD development in the Turkish population. However, none of the three SNPs was shown to be associated with the development of GO in patients with GD.


Subject(s)
Forkhead Transcription Factors , Gene Frequency , Genetic Predisposition to Disease , Genotype , Graves Disease , Graves Ophthalmopathy , Polymorphism, Single Nucleotide , Humans , Male , Turkey/epidemiology , Female , Forkhead Transcription Factors/genetics , Graves Ophthalmopathy/genetics , Graves Ophthalmopathy/epidemiology , Graves Ophthalmopathy/diagnosis , Adult , Middle Aged , Graves Disease/genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length
13.
Mol Biol Rep ; 51(1): 580, 2024 Apr 26.
Article in English | MEDLINE | ID: mdl-38668754

ABSTRACT

OBJECTIVE: Superoxide dismutase 1 (SOD1) is an important antioxidant enzyme whose main function is to neutralise superoxide free radicals in the cytoplasm. Heterozygous variants in SOD1 are responsible for a substantial percentage of familial amyotrophic lateral sclerosis (ALS) cases. Recently, several reports have shown that biallelic loss of SOD1 function results in a novel phenotype called infantile SOD1 deficiency syndrome, which is consistent with a recessive pattern of inheritance and can be distinguished from typical (adult-onset) ALS. METHODS: We documented detailed family histories and clinical data, followed by whole-exome sequencing and family co-segregation analysis through Sanger sequencing. To facilitate comparisons, relevant data from fifteen previously reported patients with SOD1-related neurodevelopmental disorders were included. RESULTS: This study presents a new Turkish family with two affected children exhibiting severe delayed motor development, infancy-onset loss of motor skills, axial hypotonia, tetraspasticity, and impaired cognitive functions. Genetic analysis revealed a novel homozygous frameshift variant in SOD1 (c.248dupG [p.Asp84Argfs*8]), with computational biochemical studies shedding light on the mechanistic aspects of SOD1 dysfunction. CONCLUSIONS: Our findings contribute an affirmative report of a fourth biallelic variant resulting in a severe clinical phenotype, reminiscent of those induced by previously identified homozygous loss-of-function SOD1 variants. This research not only advances our understanding of the pathogenesis of this debilitating neurological syndrome but also aligns with ongoing intensive efforts to comprehend and address SOD1-linked ALS.


Subject(s)
Exome Sequencing , Homozygote , Pedigree , Phenotype , Superoxide Dismutase-1 , Humans , Superoxide Dismutase-1/genetics , Male , Female , Exome Sequencing/methods , Amyotrophic Lateral Sclerosis/genetics , Child, Preschool , Infant , Turkey , Child
14.
Turk Kardiyol Dern Ars ; 52(3): 175-181, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38573092

ABSTRACT

OBJECTIVE: The MORtality in CORonary Care Units in Türkiye (MORCOR-TURK) trial is a national registry evaluating predictors and rates of in-hospital mortality in coronary care unit (CCU) patients in Türkiye. This report describes the baseline demographic characteristics of patients recruited for the MORCOR-TURK trial. METHODS: The study is a multicenter, cross-sectional, prospective national registry that included 50 centers capable of 24-hour CCU service, selected from all seven geographic regions of Türkiye. All consecutive patients admitted to CCUs with cardiovascular emergencies between September 1-30, 2022, were prospectively enrolled. Baseline demographic characteristics, admission diagnoses, laboratory data, and cardiovascular risk factors were recorded. RESULTS: A total of 3,157 patients with a mean age of 65 years (range: 56-73) and 2,087 (66.1%) males were included in the analysis. Patients with arterial hypertension [1,864 patients (59%)], diabetes mellitus (DM) [1,184 (37.5%)], hyperlipidemia [1,120 (35.5%)], and smoking [1,093 (34.6%)] were noted. Non-ST elevation myocardial infarction (NSTEMI) was the leading cause of admission [1,187 patients (37.6%)], followed by ST elevation myocardial infarction (STEMI) in 742 patients (23.5%). Other frequent diagnoses included decompensated heart failure (HF) [339 patients (10.7%)] and arrhythmia [272 patients (8.6%)], respectively. Atrial fibrillation (AF) was the most common pathological rhythm [442 patients (14%)], and chest pain was the most common primary complaint [2,173 patients (68.8%)]. CONCLUSION: The most common admission diagnosis was acute coronary syndrome (ACS), particularly NSTEMI. Hypertension and DM were found to be the two leading risk factors, and AF was the most commonly seen pathological rhythm in all hospitalized patients. These findings may be useful in understanding the characteristics of patients admitted to CCUs and thus in taking precautions to decrease CCU admissions.


Subject(s)
Atrial Fibrillation , Hypertension , Non-ST Elevated Myocardial Infarction , Aged , Female , Humans , Male , Coronary Care Units , Cross-Sectional Studies , Hospital Mortality , Prospective Studies , Turkey , Middle Aged
15.
BMC Med Educ ; 24(1): 363, 2024 Apr 03.
Article in English | MEDLINE | ID: mdl-38570769

ABSTRACT

BACKGROUND: Female breast cancer is the most frequently diagnosed cancer, and knowledge of breast cancer risk factors, and symptoms is crucial for early diagnosis and prevention. This study aims to evaluate breast cancer awareness among female students at a pharmacy faculty in Turkey. METHODS: A cross-sectional online survey study was conducted among female students at the Suleyman Demirel University Faculty of Pharmacy between 2 November and 17 November 2023, in Isparta, Turkey. RESULTS: This survey was answered by 237 (74.5%) female students. The median breast cancer risk factors score was 8 (IQR, 5-11), and the median breast cancer symptoms score was 5 (IQR, 2-8). Additionally, the breast cancer risk factors score was 46.16% (mean/max = 8.31/18, SD = 4.33) and the breast cancer symptom score was 58.5% (mean/max = 4.68/8, SD = 2.8). Few of the respondents (26.2%, and 20.3%, respectively) knew breast cancer risk factors such as late menopause, and no childbirth experience. Most respondents correctly answered symptoms of breast cancer, such as a painless and palpable breast lump, indrawing of the nipple, and sudden changes in breast shape (76.8%,44.3%, and 67.1% respectively). The students' sources of information were medical websites (29.5%), social media (27%), physicians (22.8%), friends & family (14.8%), and pharmacists (5.9%). CONCLUSIONS: This study showed that students' knowledge of breast cancer risk factors was poor, but their knowledge of breast cancer symptoms was acceptable. Breast cancer awareness courses should be included in faculties. Additionally, more attention should be given to different educational interventions such as social media, television, and brochure distribution.


Subject(s)
Breast Neoplasms , Students, Pharmacy , Female , Humans , Breast Neoplasms/diagnosis , Breast Neoplasms/prevention & control , Cross-Sectional Studies , Health Knowledge, Attitudes, Practice , Surveys and Questionnaires , Turkey , Universities
16.
Child Care Health Dev ; 50(3): e13260, 2024 May.
Article in English | MEDLINE | ID: mdl-38600783

ABSTRACT

AIM: This study aims to assess the general health status and factors affecting the general health status in the 0-14 age group in Turkey. METHODS: This cross-sectional study was conducted using the Turkish Statistical Institute Turkey Health Survey 2022 micro data set. RESULTS: This study included 7019 participants. Household heads described the general health status of 91.3% of children and the dental and gum status of 82.4% of children as very good or good, and 9.2% of children had any chronic disease. Although the median breastfeeding duration was 15 months, there is statistical significant association between sex and general health status (p = 0.014) and sex and duration of breastfeeding (p = 0.006). A statistical difference was found between duration of breastfeeding and general health status (p = 0.009) and dental and gum status (p = 0.001). CONCLUSION: In 2022, the majority of children in Turkey had very good or good general health and dental and gum status. More than a third of children were breastfed for less than 12 months. Considering the possibility of neglecting oral and dental health problems, it is recommended to prioritize oral and dental health literacy trainings and to continue breastfeeding promotion programmes.


Subject(s)
Breast Feeding , Family Characteristics , Child , Female , Humans , Cross-Sectional Studies , Health Status , Turkey/epidemiology , Male
17.
Disaster Med Public Health Prep ; 18: e59, 2024 Apr 11.
Article in English | MEDLINE | ID: mdl-38602095

ABSTRACT

OBJECTIVE: This study focuses on adults affected by the February 2023 Turkey earthquakes, aiming to uncover demographic and clinical traits. METHODS: A retrospective analysis of data from adult patients who sought emergency care between February 6 and February 21, 2023, following the earthquakes, was conducted. RESULTS: Among 3072 patients, 1544 (50.3%) of whom were women, trauma (31.1%) was the most prevalent cause of emergency department presentations. The median age of all patients was 44 y (interquartile range [IQR] 31-61 y). Hatay province accounted for 65.2% of trauma patients as origin. Most of the patients (66.8%) presented to the emergency department by their own means, while this was opposite for trauma patients, of whom 54.5% was transferred by means of Ambulance Service. Half of the total trauma patients were rescued from the debris, and 75.9% sustained limb injuries. Crush syndrome affected 24.7%, and emergency hemodialysis was performed on 9.1%, whereas emergency surgery was performed on 22.8% of all trauma cases. Overall, 10.2% of trauma patients lacked any identification. The rate of emergency department admittions due to respiratory and cardiovascular diseases was higher at the time of the earthquake compared with the previous year (P < 0.001). CONCLUSIONS: The insights gained from this study hold valuable implications for disaster response strategies, emphasizing the importance of preparedness, timely intervention, and comprehensive patient care.


Subject(s)
Earthquakes , Resilience, Psychological , Adult , Female , Humans , Male , Hospitals , Retrospective Studies , Turkey/epidemiology , Middle Aged
18.
Water Sci Technol ; 89(7): 1771-1786, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38619902

ABSTRACT

The effluent of WWTPs is an important source of microplastics (MP) for the aquatic environment. In this review study, MPs in wastewater treatment plants (WWTP) in Türkiye and their removal from WWTPs are reviewed for the first time. First, MP characteristics in the influent and effluent of WWTPs in Türkiye are discussed. In the next section, the abundance of MPs in the influent and effluent of WWTPs in Türkiye and the MP removal efficiency of WWTPs in Türkiye are evaluated. Then, the results of studies on MP abundance and characteristics in Türkiye's aquatic environments are presented and suggestions are made to reduce MPs released from WWTPs into the receiving environments. Strategies for reducing MPs released to the receiving environment from WWTPs of Türkiye are summarized. In the last section, research gaps regarding MPs in WWTPs in Türkiye are identified and suggestions are made for future studies. This review paper provides a comprehensive assessment of the abundance, dominant characteristics, and removal of MPs in WWTPs in Türkiye, as well as the current status and deficiencies in Türkiye. Therefore, this review can serve as a scientific guide to improve the MP removal efficiency of WWTPs in Türkiye.


Subject(s)
Water Pollutants, Chemical , Water Purification , Microplastics , Plastics , Wastewater , Waste Disposal, Fluid , Turkey , Water Pollutants, Chemical/analysis , Environmental Monitoring
19.
Mar Environ Res ; 197: 106492, 2024 May.
Article in English | MEDLINE | ID: mdl-38598959

ABSTRACT

The observation of mortality in Mediterranean mussels (Mytilus galloprovincialis) distributed in the Çanakkale Strait in recent years was influential in developing the research question for this study. In this study, the presence of bacteria (Vibrio spp.) and parasites (Marteilia spp. and Haplosporidium spp.) in mussels collected from Kumkale, Kepez, and Umurbey stations in the Çanakkale Strait was investigated seasonally. Microbiological findings, histopathology, oxidative stress enzymes and their gene expressions, lipid peroxidation, lysosomal membrane stability, and changes in haemolymph were examined. In summer samples, both the defence system and the extent of damage were higher in gill tissue. In winter samples, enzyme activities and lipid peroxidation were found to be predominantly higher in digestive gland tissues. Histological examinations and Hemacolor staining revealed the presence of protozoan cysts, and for bacterial examination, molecular analysis performed after culturing revealed the presence of 7 Vibrio species. While the total numbers of heterotrophic bacteria detected in all samples were at acceptable levels, the predominance of Vibrio spp. numbers among the total heterotrophic bacteria detected in almost all samples were noteworthy. The total hemocyte count was calculated as 5.810(4)±0.58 (cells/mm3) in winter and 7.210(4)±1.03 (cells/mm3) in summer. These factors are considered to be possible causes of mussel mortality.


Subject(s)
Mytilus , Animals , Mytilus/chemistry , Turkey , Oxidative Stress , Seafood
20.
J Infect Dev Ctries ; 18(3): 441-449, 2024 Mar 31.
Article in English | MEDLINE | ID: mdl-38635621

ABSTRACT

INTRODUCTION: The aim of this national, multicenter, cross-sectional, retrospective chart review study was to determine the proportion of patients in Turkey who received hepatitis C virus (HCV) treatment after receiving positive anti-HCV results during HCV screening. METHODOLOGY: Data related to patients' demographics, laboratory results, time interval from obtaining a positive anti-HCV result to treatment initiation, specialty of the physician requesting anti-HCV screening, and type of hospital were analyzed. RESULTS: Among 1,000 patients who received a positive anti-HCV result, 50.3% were male and 78.5% were screened for HCV-RNA. Among HCV-RNA screened patients, 54.8% (n = 430) had a positive result. Among patients who tested positive for HCV-RNA, 72.8% received HCV treatment in line with their positive anti-HCV results. The median time from obtaining a positive anti-HCV result to initiation of HCV treatment was 91.0 days (interquartile range 42.0 to 178.5). Non-surgical branches requested HCV-RNA testing more frequently than surgical branches (p < 0.001). The rate of access to HCV treatment was higher among patients screened in university hospitals than among patients screened in training and research hospitals (p < 0.001). CONCLUSIONS: Our results indicate a higher rate of treatment initiation among patients with HCV infection than is described in the published literature. Furthermore, the time from screening to treatment initiation was considerably shorter compared with other international studies. However, since HCV-RNA testing was not requested in a significant portion of patients with a positive anti-HCV test result, there might be a large patient population with HCV who do not receive treatment.


Subject(s)
Hepacivirus , Hepatitis C , Humans , Male , Female , Hepacivirus/genetics , Retrospective Studies , Tertiary Care Centers , Turkey/epidemiology , Cross-Sectional Studies , Hepatitis C/diagnosis , Hepatitis C/drug therapy , Hepatitis C/epidemiology , Hepatitis C Antibodies , RNA, Viral
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