Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Big data generated from exome sequencing (ES) and genome sequencing (GS) analyses can be used to detect actionable and high-penetrance variants that are not directly associated with the primary diagnosis of patients but can guide their clinical follow-up and treatment. Variants that are classified as pathogenic/likely pathogenic and are clinically significant but not directly associated with the primary diagnosis of patients are defined as secondary findings (SF). The aim of this study was to examine the frequency and variant spectrum of cancer-related SF in 2020 Turkish ES data and to discuss the importance of the presence of cancer-related SF in at-risk family members in terms of genetic counseling and follow-up. A total of 2020 patients from 2020 different families were evaluated by ES. SF were detected in 28 unrelated cases (1.38%), and variants in BRCA2 (11 patients) and MLH1 (4 patients) genes were observed most frequently. A total of 21 different variants were identified, with 4 of them (c.9919_9932del and c.3653del in the BRCA2 gene, c.2002A>G in the MSH2 gene, c.26_29del in the TMEM127 gene) being novel variations. In three different families, c.1189C>T (p.Gln397*) variation in BRCA2 gene was detected, suggesting that this may be a common variant in the Turkish population. This study represents the largest cohort conducted in the Turkish population, examining the frequency and variant spectrum of cancer-related SF. With the identification of frequent variations and the detection of novel variations, the findings of this study have contributed to the variant spectrum. Genetic testing conducted in family members is presented as real-life data, showcasing the implications in terms of counseling, monitoring, and treatment through case examples.

SVEAT score: Acute chest pain risk stratification.

OBJECTIVE: We aimed to compare the predictive ability of the newly introduced Symptoms, history of Vascular disease, Electrocardiography, Age, and Troponin (SVEAT) score with the widely used History, ECG, Age, Risk factors, and Troponin I (HEART) score in risk stratification for 30-day major adverse cardiac events (MACE) development among patients presenting to the emergency department with acute chest pain complaints. METHODS: This prospective, observational, single-center study was conducted at an emergency department of a tertiary care hospital between June 2022 and January 2023. We recruited all adult patients aged 24 years and above with a primary complaint of non- traumatic chest pain at the critical care unit of the Emergency Department. INCLUSION CRITERIA: Patients aged 24 years and above with a primary complaint of chest pain lasting >5 min. EXCLUSION CRITERIA: Patients with STEMI, pregnant individuals, those with traumatic chest pain, and those without 30-day MACE data were excluded. HEART and SVEAT scores were calculated for each participant.The performance of the SVEAT score in identifying the low-risk patient group was compared to that of the HEART score. RESULTS: In the study, out of 809 patients, 589 (72.8%) were categorized as low-risk based on the SVEAT score, and 377 (46.6%) based on the HEART score. Out of these 809 patients, 115 (14.2%) experienced MACE. Within the group classified as low risk by the SVEAT score, 6 (0.7%) patients experienced MACE, while within the group classified as low risk by the HEART score, 8 (1%) patients experienced MACE. The SVEAT score had an Area Under the Curve (AUC) of 0.916 (95% CI 0.890 to 0.942), which was found to be higher than the AUC of the HEART score (0.856, 95% CI 0.822 to 0.890). In our study, the sensitivity of the SVEAT and HEART scores was found to be 94.7% (95% CI 88.9%-98.0%) and 93.0% (95% CI 86.7%-96.9%), respectively. The specificity of both scores was 84.1% (95% CI 81.0%-86.6%) and 53.17% (95% CI 49.3%-56.6%), respectively. CONCLUSION: While our study indicated a higher predictive power for MACE development with the SVEAT score compared to the HEART score, further extensive studies are necessary for its reliable implementation in emergency departments for chest pain risk classification.

Effect of access block on emergency department crowding calculated by NEDOCS score.

OBJECTIVE: Emergency department (ED) crowding poses a significant challenge in healthcare systems globally, leading to delays in patient care and threatening public health and staff well-being. Access block, characterized by delays in admitting patients awaiting hospitalization, is a primary contributor to ED overcrowding. To address this issue, the National Emergency Department Overcrowding Study (NEDOCS) score provides an objective framework for assessing ED crowding severity. This study aims to evaluate the impact of access block on ED crowding using the NEDOCS score and to explore strategies for mitigating overcrowding through scenarios over a 39-day period. METHODS: A single-center, prospective, observational study was conducted in an urban tertiary care referral center. The NEDOCS score was collected six times daily, including variables like total ED patients, ventilated patients, boarding patients, the longest waiting times, and durations of boarding patients. NEDOCS scores were recorded, and calculations were performed to assess the potential impact of eliminating access block in scenarios. RESULTS: NEDOCS scores ranged from 62.4 to 315, with a mean of 146, indicating consistent overcrowding. Analysis categorized ED conditions into different levels, revealing that over 81.2% of the time, the ED was at least overcrowded. The longest boarding patient's waiting duration was identified as the primary contributor to NEDOCS (48.8%). Scenarios demonstrated a significant decrease in NEDOCS when access block was eliminated through timely admissions. Shorter boarding times during non-working hours suggest the potential mitigating effect of external factors on the access barrier. Additionally, daytime measurements were associated with lower patient admissions and shorter wait times for initial assessment. CONCLUSION: Although ED crowding is a multifactorial problem, our study has shown that access block contribute significantly to this problem. The study emphasizes that eliminating access block through timely admissions could substantially alleviate crowding, highlighting the importance of addressing this issue to enhance ED efficiency and overall healthcare delivery.

Religious Coping and Fatalism on Perception of Care Burden in Caregivers of Patients with Cerebral Palsy in Turkey: A Cross-Sectional and Correlational Study.

Providing care to a patient with cerebral palsy can have many negative impacts upon caregivers. This study was carried out to define caregiving burden in the caregivers of cerebral palsy patients and determine the relationships between religious coping, fatalism, and burden of care. This cross-sectional and correlational study included 132 caregivers. Data were obtained using the Religious Coping Scale, the Fatalism Scale, and the Caregiver Burden Scale. It was determined that 18.9% of the participants experienced a heavy care burden. The luck and pessimism dimensions of the Fatalism Scale were positively and weakly correlated with caregiving burden (p < 0.01), while there was no correlation between caregiving burden and positive or negative religious coping styles (p > 0.05). Perception of fatalism explained 10% of the total variance in caregiving burden (R = 0.329, R2 = 0.109, F = 5.195, p = 0.002). It is recommended that caregivers be supported by religious experts to strengthen positive religious coping styles and advisable fatalism perceptions.

Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with COVID-19: A Case Series Experience in a Tertiary Care Hospital of Southern Turkey.

OBJECTIVE: Aim of the study is to assess the clinical characteristics and treatment outcomes of multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19. STUDY DESIGN: The study comprised 52 children with MIS-C admitted to University of Health Sciences Adana City Training and Research Hospital pediatric wards from September 2020 to April 2021. Demographic characteristics and clinical data were retrospectively collected from patient files. RESULTS: Median age of patients was 9 (5-13) years. Fever (92.3%), abdominal pain (76.9%), rash (48.1%) and vomiting (48.1%) were the most common presenting symptoms. Fever duration was 8 (4.25-10) days in overall. Depressed left ventricular ejection fraction was found in 17.3% of patients. At admission, elevated levels of C-reactive protein, procalcitonine, erythrocyte sedimentation rate, D-dimer and ferritin were found in 98.1%, 96.2%, 75%, 84.6% and 69.2% of the patients, respectively. Lymphopenia, hyponatremia and hypoalbuminemia were found in 76.9%, 59.6% and 42.3% of the patients. Intravenous immunoglobulin was used in 96.2%, corticosteroids in 71.2% and anakinra in 3.8% of the patients. In total, 28.8% of the patients were admitted to pediatric intensive care unit and 17.3% received vasopressor support. Median duration of hospital length of stay was 12.5 days. Comorbidities were present in 19.2% of the patients. No mortality was recorded. CONCLUSIONS: While being rare and treatable, MIS-C is the ugly and mysterious face of the COVID-19 pandemic for children. The increasing number of MIS-C cases shows that this phenomenon is more common than thought. Comprehensive studies are required to understand the pathogenesis of the disease and determine the treatment regimens clearly. LAY SUMMARY: While being rare and treatable, multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19 is the ugly and mysterious face of the COVID-19 pandemic for children. MIS-C is now thought to be a post-infectious (SARS-CoV2) hyperinflammatory disease secondary to an abnormal immune response, rather than a complete obscurity. The increasing number of MIS-C cases and new case series reports from all over the world show that MIS-C is more common than thought. Despite our increasing experience, we may encounter a new finding every day in MIS-C patients. Therefore, we want to contribute to literature by presenting the MIS-C cases we treated in our clinic in detail. We have experienced that MIS-C patients can apply with similar but also different and unique characteristics. In case of delayed diagnosis or treatment, morbidity and mortality rates may increase. Therefore, the level of awareness and knowledge of all physicians, especially those dealing with pediatric patients, about MIS-C should be increased. Although the early effects of MIS-C are known, we don't have enough information about the long-term consequences yet. Comprehensive studies are required to understand the pathogenesis of the disease and determine the treatment regimens clearly.

Changes of Stress Distributions Around Pterygomaxillary Junction With Different Osteotome Angulations.

The aim of this study was to investigate how the alteration of the angulation of osteotome at pterygomaxillary junction affects lateral pterygoid plate, maxillary tuberosity, palatal surface of maxilla, palatine bone and body of sphenoid bone. Following reconstruction of 3D modelling of maxilla, Osteotomes' tip was angulated 45 and 90 to sagittal plane to simulate pterygomaxillary osteotomy. Finite element analyses (FEA) was performed and Von Misses stress distributions were analyzed for two different angulations. Independent sample t test was used to compare differences between 45 and 90 angulations. Von Misses stress values on lateral pterygoid plate were higher in 45 angulation (0.71 ±â€Š0.21 MPa) than 90 angulation (0.54 ±â€Š0.28 MPa). This difference was statistically significant (P < 0.01). Placement of osteotome's tip with 90 angulation had higher stress value than 45 angulation on maxillary tuberosity region. However; difference wasn't significant (P = 0.44). Stress values on body of sphenoid bone were 0.45 ±â€Š0.17MPa for the case of 90 angulation and 0.19 ±â€Š0.09MPa for 45 angulation. Difference between these values were statistically significant (P < 0.01). Possible risk of unfavourable lateral pterygoid plate fracture and complications related with body of sphenoid bone during pterygomaxillary osteotomy was remarkably increased in case of narrow angulation (45). Keeping osteotome at right angle with sagittal plane may avoid these complications.