Search

Intellectual and developmental disabilities result from abnormal nervous system development. Over a 1,000 genes have been associated with intellectual and developmental disabilities, driving continued efforts toward dissecting variant functionality to enhance our understanding of the disease mechanism. This report identified two novel variants in CC2D1A in a cohort of four patients from two unrelated families. We used multiple model systems for functional analysis, including Xenopus , Drosophila , and patient-derived fibroblasts. Our experiments revealed that cc2d1a is expressed explicitly in a spectrum of ciliated tissues, including the left-right organizer, epidermis, pronephric duct, nephrostomes, and ventricular zone of the brain. In line with this expression pattern, loss of cc2d1a led to cardiac heterotaxy, cystic kidneys, and abnormal CSF circulation via defective ciliogenesis. Interestingly, when we analyzed brain development, mutant tadpoles showed abnormal CSF circulation only in the midbrain region, suggesting abnormal local CSF flow. Furthermore, our analysis of the patient-derived fibroblasts confirmed defective ciliogenesis, further supporting our observations. In summary, we revealed novel insight into the role of CC2D1A by establishing its new critical role in ciliogenesis and CSF circulation., (© 2024 Kim et al.)

Background: Despite advances in the diagnosis and treatment of ankylosing spondylitis (AS), the risk of cardiovascular complications in AS patients is still higher than in the general population. Macrophages are at the intersection of the basic pathogenetic processes of AS and atherosclerosis. Although syndecan-4 (SDC4) mediates a variety of biological processes, the role of SDC4 in macrophage-mediated atherogenesis in AS patients remains unclear. Herein, we aimed to investigate the role of SDC4 in subclinical atherosclerosis in AS patients., Methods: Subjects were selected from eligible AS patients and control subjects without a prior history of AS who were referred to the rheumatology outpatient clinics. All participants' past medical records and clinical, and demographic characteristics were scanned. In addition, carotid intima-media thickness (CIMT) measurement and disease activity index measurement were applied to all patients., Results: According to our data, serum SDC4 level was significantly higher among AS patients compared with the control group (6.7 [1.5-35.0] ng/mL vs 5.1 [0.1-12.5] ng/mL, P < .001). The calculated CIMT was also significantly higher in AS patients than in the control group (0.6 [0.3-0.9] mm vs 0.4 (0.2-0.7), P < .001]. Additionally, serum C-reactive protein level and SDC4 level were independent predictors of AS and strongly associated with CIMT. Linear regression analysis showed that serum SDC4 level was the best predictor of CIMT (P = .004)., Conclusion: Our data indicate that serum SDC4 levels provide comprehensive information about the clinical activity of the disease and subclinical atherosclerosis in AS patients., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Delineated as the first cellular organelle in 1675 by Antonie van Leeuwenhoek, cilia did not receive much attention until the 2000s, when it became apparent that cilia played a key role in the development of embryos, a variety of signaling pathways. Therefore, collective efforts by many scientists have led to the identification of many novel ciliopathy and cilia genes, while we are still far from disclosing the complete components of cilia.Here we used the ciliated sensory neurons in C. elegans as a model system that revealed the voltage-gated K+ channel EGL-36 (a member of the Shaw subfamily) as a new component associated with cilia. The confocal microscopy examination of fluorescence tagged EGL-36 together with ciliary (IFT-140) or transition zone (MKS-6) markers reveal that EGL-36 is only expressed in subsets of the ciliated sensory neurons, where it partially overlaps with the basal body signals and predominantly localizes to the periciliary membrane compartment. This expression pattern along with studies of  egl-36  gain-of-function variants indicates that  egl-36  is not essential for ciliogenesis in  C. elegans . Our data identify the voltage-gated K+ channel EGL-36 as a new cilia-associated protein, and future studies should reveal the functional significance of EGL-36 in cilia biogenesis., (Copyright: © 2021 by the authors.)

Dental education programs are known to be highly stressful and stress can affect general health. The aims were to identify sources of stress among preclinical students and to evaluate their perceived levels of stress, self-efficacy and effective coping strategies in a private dental school. One hundred preclinical students in a Turkish private dental school were surveyed using dental environment stress (DES), perceived stress (PSS), general self-efficacy (G-SES) and brief coping scales (Brief-COPE). Age, gender, history of psychiatric treatment, factors that affected the choice of dentistry, choice rank of dental school, scholarship and income was recorded. 'Exams and grades' followed by 'Fear of failing course or year' were found to be the most stressprovoking factors. The most and the least stressprovoking DES domains were 'Workload' and 'Social stressors', respectively. 'Social stressors' affected male more than female (p < .05). The most and the least common coping strategies were found to be 'Planning', and 'Drug', respectively. Female used 'Instrumental support' more than male (p < .05). Demographic factors had impact on the perceived stress factors and levels, as well as coping strategies. Unlike previous studies establishing high stress levels in dental students, preclinical students displayed moderate level of stress. Clinical dental education might be more responsible for creating stress.

The aims of this study were to identify sources of stress among clinical students and to evaluate the students' perceived levels of stress, general self-efficacy and effective coping strategies in a private dental school environment. The study group consisted of 130 undergraduate clinical dental students in a Turkish private dental school, during the academic year 2014-2015. The students were surveyed using modified version of the dental environment stress (DES) survey, the perceived stress scale, the general self-efficacy scale (G-SES) and the brief coping scale. Age, sex, year of study, history of psychiatric treatment and factors that affected the choice of dentistry were also recorded. Final year and female clinical dental students, who were found to be the most stressful students, had moderate to high perceived stress scores. Total and 'Faculty and administration' related DES scores increased with the year of study. Stressors related to 'Workload' and 'Clinical training' affected females more than males. G-SES scores were higher in male students and students, who had no history of psychiatric treatment. The most and the least common coping strategies were 'Planning' and 'Substance abuse', respectively. 'Religion' was found to be one of the main coping strategies. Stress factors affecting Turkish clinical dental students studying at private dental school differed from the previously reported stress factors affecting students studying at a governmental dental school. Advanced year and female students experienced more stress than the other students.

Objective: This article presents data on the burden of periodontal diseases in Turkish adults aged 35 years or older., Methods: Within each region of Turkey, a rural and an urban area or city were selected in 2009-10 using a probability proportional to size method. In the selected towns, local officials who were familiar with their communities assisted in recruiting subjects. Loss of Attachment (LOA) was measured at six sites around each tooth present in the mouth, excluding third molars. Additionally, the Community Periodontal Index was used to assess the severity of periodontal diseases around 12 index teeth. Self-reported data on key risk factors were also collected. Weights were computed using a raking ratio adjustment procedure and used in all analyses., Results: Almost all examined adults had some loss of periodontal attachment. The proportion of those with more than 3 mm LOA ranged from 43 percent in 35-44 year olds to 91 percent in those aged 65+ years. Among females, older age, low education status, smoking 11-40+ cigarettes a day, being employed, and presence of high number of missing tooth surfaces were associated with LOA > 3 mm. Among males LOA >3 mm was associated with older age, use of alcohol, and unemployment. The CPI data did not yield the same associations with periodontal diseases and risk factors., Conclusions: Periodontal diseases in Turkish adults are highly prevalent. A tailored common risk factor health promotion program is recommended to reduce the burden of periodontal infection in Turkey., (© 2017 American Association of Public Health Dentistry.)

Background: In terms of ethical decision making, every clinical case, when seen as an ethical problem, may be analyzed by means of four topics: medical indications, patient preferences, quality of life, contextual features. The aim of this study was to compare the performance of 4th year dental students on Ethical Decision Making before and after a course on ethics., Methods: Fourth year dental students (n = 37) from academic year 2013-2014 participated in the study. A 3-h lecture, which was about four topics approach to clinical ethical case analysis, was given to the students. The lecture was based on case scenarios related with dental ethics. After the completion of lectures,a case scenario was presented to the students to assess their ethical decision making abilities. At the end of the exam, four topics and ethical judgment were evaluated. Their performances on this examination were evaluated before and after lectures. Statistical evaluation was performed with the significance level set at p < 0.05., Results: A statistically significant difference was found between the means of four topics (p < 0.05). There was no statistically significant difference between the mean scores of judgment of ethical decision (p > 0.05). The mean total score of the students after the course was significantly higher than before course (67.5 and 54.4, respectively; p < 0.05)., Conclusion: More lectures should be implemented to the curriculum to increase the student awareness of ethical issues and to reach the ultimate goals of dental education.

Purpose: To assess the correlation between toothbrushing (TB) and the common biological (HDL) and quality-of-life-related risk factors for noncommunicable diseases (NCDs) and communicable diseases among patients with diabetes mellitus type 2 (DM2)., Materials and Methods: The present study is part of a prospective intervention study among DM2 patients (n=200), randomly selected from the outpatient clinics, Istanbul, Turkey. The assessed variables were: TB, self-reported gingival bleeding (SRGB), HDL, BMI, body-fat proportion, modified quality of life scale (WHOQOL-BrefPhPs). Descriptive statistics, frequency distributions, Spearman rank correlation, the chi-square test and factor analysis were applied., Results: A minority of the patients brushed their teeth twice a day or more (27%) and reported no gingival bleeding (37%). Favourable HDL and high WHOQOL-BrefPhPs were 77% and 57%, respectively. A majority of patients had unhealthy BMI (83%) and body-fat proportions (63%). SRGB was negatively correlated with WHOQOL-BrefPhPs (rs=-0.24, p<0.05) and TB (rs=-0.25, p<0.01). The patients who reported less than daily TB were more likely to have unfavourable HDL and low WHOQOL-BrefPhPs (32% vs 54%) than those brushing their teeth daily (17% vs 35%, p<0.05). Principal component analysis revealed two clusters: 'healthy weight' (WHOQOL-BrefPhPs, TB, BMI) and 'oral health' (SRGB, HDL)., Conclusion: The present results demonstrate a correlation between TB and biological and quality-of-life-related risk markers of NCDs and communicable diseases. There seems to be a need to increase the awareness of the significance TB's potential intermediatory role between NCDs and communicable diseases.

The aim of this study was to compare the impact of case-based learning (CBL) and lecture-based learning (LBL) on fourth-year dental students' clinical decision making by using the Structure of Observed Learning Outcome (SOLO) taxonomy. Participants in the study were fourth-year dental students (n=55) in academic year 2012-13 taught in a large-group LBL context and fourth-year dental students (n=54) in academic year 2013-14 taught with the CBL methodology; both took place in the oral diseases course at Yeditepe University Faculty of Dentistry, Istanbul, Turkey. All eligible students participated, for a 100 percent response rate. A real case was presented to the students in both groups to assess their clinical decision making on the topic of oral diseases. Their performance was evaluated with the SOLO taxonomy. Student t-test was used for statistical evaluation, and significance was set at the p<0.05 level. A statistically significant difference was found between the mean scores of the relational and extended abstract categories of the CBL and LBL groups (p<0.05). Students who were taught with CBL had higher scores at the top two levels of the SOLO taxonomy than students taught with LBL. These findings suggest that an integrated case-based curriculum may be effective in promoting students' deep learning and it holds promise for better integration of clinical cases likely to be encountered during independent practice.

Objectives: This study is the first to our knowledge that aims to evaluate the impact of Health Coaching (HC) compared to Health Education (HE) on oral health and diabetes management among patients with diabetes type II (DM2)., Material and Methods: The study is part of a prospective intervention among randomly selected DM2 patients (n = 186), Istanbul, Turkey. The data analyzed were Community Periodontal Need Index (CPI) and HbA1c (glycated hemoglobin percentage). Data was collected initially and at the end of the intervention. The participants, both attending oral examinations and filing out questionnaires (n = 179), were allocated to HC (n = 77) and HE (n = 102) groups by means of a block table of random numbers., Results: At baseline, there was no statistical difference between HC and HE groups in terms of CPI and HbA1c (p > 0.05). At postintervention, the HC group had significantly lower CPI and HbA1C than the HE group (p < 0.01). There was a significant reduction at HbA1c (0.8 %) and CPI (74 %) in HC group (p < 0.05). The impact of HE on CPI was less significant (21 % reduction) (p = 0.001); however, it was not significant on HbA1c (p = 0.68). The improvement at CPI from baseline to postintervention had significant impact on reduced HbA1c in the HC group (p < 0.05)., Conclusions and Clinical Relevance: The present findings imply that HC has a significantly higher impact on better management of diabetes and oral health when compared to formal HE. This calls for the use of HC by dentists, physicians, and diabetes educators in order to improve quality of life of DM2 patients by facilitating better oral health and diabetes self-management.

Objectives: The aim of this study was to assess the relationship between tooth loss, toothbrushing behaviour, diabetes type 2 (DM2), obesity and sleep apnea among diabetics., Material and Methods: DM2 patients (n = 165) in Istanbul, Turkey, were randomly selected from the outpatient clinics of two hospitals. Baseline clinical measurements (HbA1c, fasting blood glucose, high-density lipoprotein (HDL), low-density lipoprotein (LDL), body mass index (BMI), body-fat proportion, tooth loss) and self-administered questionnaires (toothbrushing, gingival bleeding, sleep apnea) provided data for factor and principal component analysis with Varimax rotation. Univariate statistics and chi-square tests were derived., Results: Mean maxillary tooth loss (4.49 ± 3.69 teeth) was higher than in the mandible (3.43 ± 3.12 teeth, p< 0.001). Favourable HDL was measured among most patients (77%); other favourable clinical measures occurred only in a minority of participants (HbA1c, 28%; fasting blood glucose, 17%; LDL, 30%). Twice daily toothbrushing was reported by 33% (17%) for healthy BMI; 37% when healthy body-fat proportions. There was risk of sleep apnea in 37 %. The higher number of lost teeth in the maxilla was linked with obesity and sleep apnea. Non-daily toothbrushers were more likely to have high LDL and low HDL cholesterol and a higher risk of sleep apnea. When "at least occasionally" bleeding on toothbrushing occurred, higher HbA1c levels and sleep apnea were more likely., Conclusion: Oral care with early diagnosis and monitoring of glycaemic level can help prevent complications of DM2., Clinical Relevance: Dentists may play a key role in better managing and diagnosing sleep apnea early by referring the patients with severe tooth loss and periodontal disease for general medical examination.

The aim of this study was to evaluate differences with regard to local anesthesia education in Turkish dental schools. Questionnaires designed to collect information about local anesthesia education were sent to the heads of the Departments of Oral and Maxillofacial Surgery of seventeen Turkish dental schools. Eleven returned the completed survey for a response rate of 64 percent. It was determined that dental schools begin the theoretical part of their local anesthesia (LA) curricula during the first half of the third year. Most dental schools start teaching the practical aspects during the second half of the third year on average--half a year after the beginning of the theoretical background. The first injection in humans, usually a fellow student (82 percent), is mostly supervised by an oral and maxillofacial surgeon. The number of injections under supervision usually depends upon the individual capabilities of the student. None of the schools said they required permission of a medical ethics committee for injections on fellow students. Seventy-three percent of the schools said they were satisfied with their current LA teaching and were not planning to make any changes. Overall, LA teaching programs showed minor variations across the surveyed Turkish dental schools.

Purpose: To assess the role of toothbrushing self-efficacy (TBSE) in toothbrushing (TB) behaviour and diabetes management, measured in terms of HbA1c knowledge, quality of life, BMI, self-reported health and physical activity among Turkish type-II-diabetes (DM2) patients., Materials and Methods: A pilot study using self-administered health questionnaires was conducted among a random sample of 60 patients (aged 40 to 70 years) in Istanbul, Turkey. The assessed variables were: TBSE, TB, glycated haemoglobin (HbA1c) knowledge, quality of life, BMI, self-reported health and physical activity. Descriptive statistics, frequency distributions, Pearson's correlation, the chi-square test and MANOVA were applied., Results: Almost half of the patients reported low TBSE (mean >= 53%). and TB once a day (54%). Most (77%) did not know their HA1C level and they were overweight (42%) and obese (32%). Almost half of the patients reported good quality of life (> mean, 55%), being physically active (51%) and in good health (mean < 46%). The patients reporting high levels of TBSE were more likely to know their HbA1c (OR= 10.5: 95%CI= 1.01-103.24) and to report better health (OR= 10.0: 95%CI = 1.80-55.63) and were less likely to be obese (OR= 0.16: 95%CI= 0.02-1.00) (P < 0.05). There was a strong correlation between TBSE and TB (rs = 0.61, P < 0.01)., Conclusion: The present study underlines the need for TBSE-integrated common health promotion for oral health and DM2, considering the relation of TBSE, HbA1c, BMI and toothbrushing.

The present study evaluated the possible effects of exposure to polypropylene flock on respiratory health and serum cytokines in a cross-sectional study of workers from a plant in Turkey. A total of 50 polypropylene flocking workers were compared to a control group of 45 subjects. All subjects filled out a respiratory questionnaire and underwent a physical examination, a chest radiograph and pulmonary function testing, including single breath carbon monoxide diffusing capacity (DL,CO). Serum interleukin-8 (IL-8) and tumour necrosis factor-alpha (TNF-alpha) were measured. Additionally, high resolution computed tomography (HRCT) of the chest was performed in 10 exposed workers with low DL,CO. Work-related respiratory symptoms were reported in 26% of the exposed subjects and in 13.3% of the controls. Logistic regression analysis showed that the risk of respiratory symptoms increased 3.6 fold in polypropylene flocking workers when compared to controls. Parameters of the study group, including per cent predicted: forced vital capacity, forced expiratory volume in one second, forced mid-expiratory flow 25-75% and DL,CO, were significantly lower than in controls. Multivariate analyses showed that being a polypropylene flocking worker was a predictive factor for impairment of pulmonary function. Serum IL-8 and TNF-alpha levels were increased in the study group compared with the controls. HRCT revealed peribronchial thickening and diffuse ground glass attenuation in some subjects. The present study suggests the presence of subtle or the beginning of interstitial lung disease in these polypropylene flocking workers.

A national oral health pathfinder survey has been conducted by our research team in Turkey, in collaboration with the WHO European Region. Some of the data obtained by this survey were for CPITN values for age groups above 10 years, and can be summarized as follows: formula: (see text) These findings demonstrate that preventive periodontal therapy and community-based prophylaxis methods, will undoubtedly be of prime importance in future nationwide dental health service planning in Turkey.