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Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes
No full textPurpose: In Developmental and Epileptic Encephalopathies (DEEs), identifying the precise genetic factors guides the clinicians to apply the most appropriate treatment for the patient. Due to high locus heterogeneity, WES analysis is a promising approach for the genetic diagnosis of DEE. Therefore, the aim of the present study is to evaluate the utility of WES in the diagnosis and treatment of DEE patients. Methods: The exome data of 29 DEE patients were filtrated for destructive and missense mutations in 1896 epilepsy-related genes to detect the causative variants and examine the genotype-phenotype correlations. We performed Sanger sequencing with the available DNA samples to follow the co-segregation of the variants with the disease phenotype in the families. Also, the structural effects of p.Asn1053Ser, p.Pro120Ser and p. Glu1868Gly mutations on KCNMA1, NPC2, and SCN2A proteins, respectively, were evaluated by molecular dynamics (MD) and molecular docking simulations. Results: Out of 29, nine patients (31%) harbor pathological (P) or likely pathological (LP) mutations in SCN2A, KCNQ2, ATP1A2, KCNMA1, and MECP2 genes, and three patients have VUS variants (10%) in SCN1A and SCN2A genes. Sanger sequencing results indicated that three of the patients have de novo mutations while eight of them carry paternally and/or maternally inherited causative variants. MD and molecular docking simulations supported the destructive effects of the mutations on KCNMA1, NPC2, and SCN2A protein structures. Conclusion: Herein we demonstrated the effectiveness of WES for DEE with high locus heterogeneity. Identification of the genetic etiology guided the clinicians to adjust the proper treatment for the patients
Clarification of red grape juice by amine-functionalized magnesium silica aerogel
No full textThe clarification conditions and the selection of the clarification agent are pivotal in eliminating the haze components from red grape juice (RGJ) while minimizing the loss of functional color components. In this context, we synthesized a water glass-based APTES functionalized magnesium silica aerogel (MSA-NH 3 ) incorporating 61.44 molecules/nm 2 of amine groups, resulting in a positively charged zeta potential value of 33.9 mV (pH 3.4) for clarification of RGJ by targeting negatively charged polyphenols. The optimum clarification conditions using MSA-NH 3 were determined as 0.18 g MSA-NH 3 /L RGJ, 20 degrees C, and 60 min through the application of BoxBehnken design. Under these conditions, MSA-NH 3 exhibited excellent adsorption of haze components (3.61 NTU), outperforming the commercial bentonite-gelatine combination (BGC) (5.45 NTU). Furthermore, it exhibited greater efficacy in preserving anthocyanins while adsorbing browning components. MSA-NH 3 has a high potential to serve as a functional alternative clarification agent in the beverage industry due to its promising clarification performance
The Relationship between Frontal QRS-T Angle and Vitamin D Deficiency
No full textBackground and Objectives: A deficiency in serum 25-hydroxyvitamin D levels is associated with a number of cardiovascular situations, such as high blood pressure, heart failure, atherosclerotic heart disease, and peripheral artery disease. The frontal QRS-T angle has recently been proposed as a marker of ventricular repolarization. A wider frontal QRS-T angle has been positively correlated with adverse cardiac events. The objective of our study was to examine the association between serum 25-hydroxyvitamin D level and the frontal QRS-T angle. Materials and Methods: A total of 173 consecutive patients aged 18-60 years undergoing routine cardiology check-up evaluation, and not receiving concurrent vitamin D treatment were included in the study. Patients were classified in three groups, depending on their vitamin D levels, and categorized as follows: Group 1-deficient (= 30 ng/mL). The frontal QRS-T angle was determined using the automated reports generated by the electrocardiography machine. Results: The average age of participants was 45.8 (+/- 12.2) years, and 55.5% of participants were female (p < 0.001). Individuals with low vitamin D concentrations exhibited a wider frontal QRS-T angle. It was determined that vitamin D level is an independent predictive factor for the frontal QRS-T angle. Conclusions: As the levels of 25-hydroxyvitamin D decrease, repolarization time assessed by frontal QRS-T angle is widened. Our findings indicate that lower concentrations of vitamin D may increase the susceptibility to ventricular arrhythmia
Experiences with emergency distance education: A dilemma between face-to-face education and distance education in tour guiding
No full textUniversities switched from face-to-face to emergency distance education as a solution to the crisis during the Covid-19 pandemic. This enabled face-to-face students to experience distance education. This study examined these experiences for tour guiding education. Distance education was available in tour guiding departments at a few T & uuml;rkiye universities before the pandemic, and this was a discussion topic in academic. However, emergency distance education presented a dilemma for students: distance education or face-to-face education. Thus, the research includes students in the face-to-face tour guiding departments. A qualitative, phenomenological approach was employed to collect data using semi-structured interviews and an online questionnaire. Data were analyzed using thematic content analysis. The findings revealed that students preferred face-toface education while being uncertain about the pros and cons of distance education. However, this decision should be underlined as not definitive. The study emphasizes that distance education is ineffective for tour guiding education due to the absence of practical courses, which are crucial for tour guiding, as well as effective communication. The study provides theoretical insights into the educational strategies used in tourism during crises and offers practical implications for enhancing distance education in higher education institutions
Trade unionism in Palestine and Lebanon in the colonial era (1920-1948)
No full textThis article aims to demonstrate how the working class evolved and was organised in Palestine and Lebanon between 1920 and 1948. Palestine and Lebanon, which share characteristics such as being a part of the Ottoman Empire and being governed by mandates, also share similar experiences in combating sectarianism based on nationality or religion. The establishment of British rule in Palestine and French administration in Lebanon after World War I also influenced the trade union movement in these two countries: Nationalism flourished, trade unions became tools of politics, and the divide and rule policy of the colonial administration made organization difficult. Although these administrations were referred to as 'mandates' of the League of Nations, they actually experienced a colonization process and its effects similar to those in Africa. In this study, particularly the concept of colonization will be used, and the activities of trade unions in colonial regions will be examined through two Middle Eastern countries. While the Palestinian trade unions, which struggled against both British colonization and settler colonialism, were effective in preserving Palestinian identity, the Lebanese trade unions, dealing with French colonization as well as sectarianism, also managed to significantly preserve working-class unity
Factors associated with psychological distress during genetic counseling in high-risk women with breast cancer in Turkey
No full textPurpose This study aims to shed light on the rather neglected area of research of psychological distress in women facing genetic counselling in Turkey, where few institutions providing such counselling exist. Methods 105 breast cancer patients presenting for genetic testing completed a sociodemographic and clinical questionnaire as well as validated structured questionnaires including the Beck Depression Inventory (BDI), the State-Trait Anxiety Inventory (STAI-S/T) and the Health Motivation Sub-dimension of Champion's Health Belief Model Scale. Results 69.5% of the participants had lost a family member from cancer; 80% said the term "cancer" elicited negative thoughts (e.g., death, fear, and incurable disease). 62.9% and 37.1% attributed cancer to stress or sorrow, and genetic susceptibility, respectively. There was a negative association between health motivation and BDI scores (r:-0.433, p < 0.001). Married individuals had higher BDI and STAI-S scores (p = 0.001, p = 0.01 respectively), as well as lower STAI-T scores (p = 0.006). BDI, STAI-S and STAI-T scores were higher in those refusing genetic testing (p < 0.001, p < 0.001, p = 0.003 respectively) and those with metastases (p = 0.03, p = 0.01, p = 0.03 respectively). Furthermore, individuals with low health motivation were more likely to exhibit high BDI scores (p < 0.001) and low STAI-T scores (p = 0.02). Conclusion Common perceptions and beliefs about cancer and genetic testing during genetic counselling were found to have a negative impact on distress in high-risk women with breast cancer. The negative relationship between psychological distress and health motivation may reduce patients' compliance with genetic counselling recommendations. A comprehensive psychological evaluation should be considered as an important part of genetic counselling
The Role of Early Preoperative Pain Duration
No full textAim: This study aims to determine whether early duration of pain before microdiscectomy in patients with lumbar disc hernia and radicular pain influences postoperative pain outcomes evaluated by the Visual Analog Scale (VAS). Material and Methods: The study included 124 patients (68 males, 56 female), who underwent lumbar microdiscectomy. The patients' demographic features, anatomical features of disc hernia, motor paresis, and VAS values were retrospectively determined and statistically analyzed using the Number Cruncher Statistical System software. Results: As expected, microdiscectomy significantly reduced pain intensities as assessed inthe immediate postoperative period, at the 3rd and 6th months of the postoperative period. But when patients were stratified according to the median preoperative pain duration (14 days), there was no statistically significant difference between patients with pain lasting shorter or longer than the median pain duration. Further, Spearman correlation statistics also did not reveal a significant association between preoperative duration and postoperative VAS pain scores. Discussion: For early intervals of pain during the initial manifestation of the lumbar disc disease, patients will equally benefit from surgical treatment regardless of the pain duration. Therefore, in lumbar radicular pain, it would be appropriate to avoid being too hasty in the surgical decision in the early period and to better weigh the benefits and risks of surgery if there is no neurological deficit and unbearable pain
A Study of Mechanical Responsiveness
No full textThe Rest-Pause Biceps Curl (RPBC) exercise generates a physiological response that enhances muscle growth and force in the Biceps Brachii (BB) through increased activation and fatigue. Specifically, the RPBC exercise leads to heightened muscle displacement and stress due to increased activation and fatigue. This stress results in muscle strain, and contracting of the muscle fibers, which causes microtrauma. The repair and adaptation process in response to this microtrauma can result in increased muscle size and force. This scrutiny purposed to explore the influence of isometric, concentric and eccentric contractions on the mechanical behavior of the BB muscle in the RPBC exercise at 2 kg, 3 kg and 5 kg dumbbell weights. In this study, ten healthy women aged 20 to 30 years, with a training background and no history of cardiovascular, neurological, or upper extremity disorders, were studied as subjects. This research was innovative in that it evaluated the collective effect of contractions on mechanical changes in BB muscle behavior during the exercise, without having physical contact with the muscle. In conclusion, the maximum displacement ( 37.56 mu m ), stress (355.89 Pa), and strain ( 3.06 x 10( -4) %) was achieved in the BB muscles as the subjects lifted 5 kg dumbbells. In addition, a linear correlation between muscle force and mechanical behavior in the muscle was observed for three different weights of the dumbbell. The results of this study evaluates muscle fatigue and recovery during exercise, providing insights into injury risk and prevention, and improves exercise technique and form
Amplitude analysis and branching fraction measurement of the decay D+ → KS0 π+ π0 π0
No full textUsing 2.93 fb−1 of e+ e− collision data collected with the BESIII detector at the center-of-mass energy 3.773 GeV, we perform the first amplitude analysis of the decay D+ → KS0 π+ π0 π0 and determine the relative magnitudes and phases of different intermediate processes. The absolute branching fraction of D+ → KS0 π+ π0 π0 is measured to be (2.888 ± 0.058stat. ± 0.069syst.)%. The dominant intermediate processes are D+ → KS0 a 1(1260)+(→ ρ+ π0) and D+ → K¯*0 ρ+, with branching fractions of (8.66 ± 1.04stat. ± 1.39syst.) × 10−3 and (9.70 ± 0.81stat. ± 0.53syst.) × 10−3, respectively. [Figure not available: see fulltext.] © 2023, The Author(s)
