The effect of a distance-delivered mindfulness-based psychoeducation program on the psychological well-being, emotional intelligence and stress levels of nursing students in Turkey: a randomized controlled study.

Nursing students who started university during the COVID-19 pandemic had to attend via distance education, which increased their stress. This study aimed to determine the effect of a mindfulness-based psychoeducation program on the psychological well-being, emotional intelligence and stress levels of young adults in their first year of an undergraduate nursing program at a university in Turkey. The sample consisted of 59 students (mean age 19.3 years) who were randomized to the intervention group (n = 29) and control group (n = 30). Those in the intervention group participated in a mindfulness-based psychoeducation program twice a week for 4 weeks via video conference. The Perceived Stress Scale (PSS-14), Psychological Well-Being Scale (PWB) and Revised Schutte Emotional Intelligence Scale (SEIS) were used as measurement tools. Between the pretest and posttest assessments, students in the intervention group showed a significant decrease in perceived stress scores and increases in emotional intelligence and psychological well-being scores. There were statistically significant differences in perceived stress, emotional intelligence and psychological well-being scores between the intervention and control groups in the posttest. Online mindfulness psychoeducation via video conferencing can be a useful intervention for nursing students to reduce stress and support psychological well-being and emotional intelligence.

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

D-2-hydroxyglutaric aciduria Type I (D-2-HGA Type I), a neurometabolic disorder with a broad clinical spectrum, is caused by recessive variants in the D2HGDH gene encoding D-2-hydroxyglutarate dehydrogenase (D-2-HGDH). We and others detected 42 potentially pathogenic variants in D2HGDH of which 31 were missense. We developed functional studies to investigate the effect of missense variants on D-2-HGDH catalytic activity. Site-directed mutagenesis was used to introduce 31 missense variants in the pCMV5-D2HGDH expression vector. The wild type and missense variants were overexpressed in HEK293 cells. D-2-HGDH enzyme activity was evaluated based on the conversion of [2 H4 ]D-2-HG to [2 H4 ]2-ketoglutarate, which was subsequently converted into [2 H4 ]L-glutamate and the latter quantified by LC-MS/MS. Eighteen variants resulted in almost complete ablation of D-2-HGDH activity and thus, should be considered pathogenic. The remaining 13 variants manifested residual activities ranging between 17% and 94% of control enzymatic activity. Our functional assay evaluating the effect of novel D2HGDH variants will be beneficial for the classification of missense variants and determination of pathogenicity.

The effect of structured education on self-esteem and the suicide probability of male adolescents living in orphanages.

AIM: This study aims to observe the effect of structured education provided to improve self-esteem and hope on the self-esteem and the suicide probability of male adolescents living in orphanages. METHOD: The study was conducted as an intervention study with pretest-posttest follow-up design. The study sample consisted of 30 adolescents living in the Agri Orphanage for Boys. Sessions of group education were conducted twice a week for 8 weeks, giving a total of 16 sessions; each session lasted for 60 to 90 minutes. Data were collected using a Personal Information Form, Rosenberg Self-Esteem Scale (RSES), and the Suicide Probability Scale (SPS). A repeated measures analysis of variance was used for data analysis. Three measurements were performed: the first at the pretest stage; the second at the posttest stage, and the third six weeks after the completion of the program. FINDINGS: The SPS total scores and subscale scores of the study group were found to be statistically significantly lower in the second and the third measurements than in the first measurement. The RSES scores were found to be statistically significantly higher in the second and the third measurements than in the first measurement. DISCUSSION: Because this group of adolescents is deemed at risk, it was suggested that the self-esteem and the suicide probability of the adolescents living in orphanages should be analyzed in more detail, and that preventive approaches should be considered.

Hepatosteatosis and carotid intima-media thickness in patients with myocardial infarction.

PURPOSE: The aim of the study was to determine the involvement of non-alcoholic fatty liver disease (NAFLD) in myocardial infarction patients and its relation with carotid intima-media thickness (CIMT). METHODS: This study consisted of 224 patients divided into three groups: those with myocardial infarction (MI), stable coronary artery disease (CAD), and normal coronary artery. Measurement of CIMT and abdominal ultrasonography for hepatosteatosis was performed in all participants. RESULTS: NAFLD was significantly more frequent among MI patients compared to the other groups. There was a significant difference between CAD and the presence of NAFLD (p < 0.05). Also, we found significant correlations between the severity of CAD and hepatosteatosis grade (r = 0.648, p < 0.001), CAD and CIMT (r = 0.594, p < 0.001), and NAFLD and CIMT (r = 0.233, p = 0.005). NAFLD was also significantly correlated with the severity of CAD (r = 0.607, p < 0.001), and the grade of NAFLD significantly correlated with CIMT (r = 0.606, p < 0.001). CONCLUSION: Patients with more severe CAD were more likely to have NAFLD. In addition, hepatosteatosis may be associated with coronary plaque instability and high fatty volume. Patients with NAFLD should be screened regularly for other cardiovascular risk factors, and the presence of fatty liver may help better classify these patients.

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.

BACKGROUND: Mosaic IDH1 mutations are described as the cause of metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate (MC-HGA), and mutations in IDH2 as the cause of D-2-hydroxyglutaric aciduria (D-2HGA) type II. Mosaicism for IDH2 mutations has not previously been reported as a cause of D-2HGA. Here we describe three cases: one MC-HGA case with IDH1 mosaic mutations, and two D-2HGA type II cases. In one D-2HGA case we identified mosaicism for an IDH2 mutation as the genetic cause of this disorder; the other D-2HGA case was caused by a heterozygous IDH2 mutation, while the unaffected mother was a mosaic carrier. METHODS: We performed amplicon deep sequencing using the 454 GS Junior platform, next to Sanger sequencing, to identify and confirm mosaicism of IDH1 or IDH2 mutations in MC-HGA or D-2HGA, respectively. RESULTS AND CONCLUSIONS: We identified different mutant allele percentages in DNA samples derived from different tissues (blood vs fibroblasts). Furthermore, we found that mutant allele percentages of IDH1 decreased after more passages had occurred in fibroblast cell cultures. We describe a method for the detection and validation of mosaic mutations in IDH1 and IDH2, making quantification with laborious cloning techniques obsolete.

Evaluation of fetal nasofrontal angle in the second trimester in normal pregnancies.

PURPOSE: The nasal bone is one of the important fetal structures to be radiologically evaluated in the first and second trimesters. In this study, we aimed to evaluate the nasal root and to determine the normal range of the naso-frontal angle, which may potentially be used as a predictive or diagnostic parameter in the diagnosis of the above-mentioned syndromes or other congenital abnormalities with associated nasal features using obstetric ultrasonography in normal fetuses. METHODS: We evaluated the naso-frontal angle using transabdominal ultrasonography in 195 healthy fetuses between the 18(th) and 21(st) weeks of gestation. The measurements were performed with the fetal neck in mild flexion and three echogenic lines (nasal end, skin on the nasal bone, nasal bone) visualized. RESULTS: The minimum, maximum and mean naso-frontal angle values were 110°, 143° and 128°, respectively, between the 18(th) and 21(st) weeks of gestation. Linear regression analysis showed no association between NFA and gestational week (Beta = 0.020 p = 0.786). CONCLUSIONS: The normal range of NFA between the 18(th) and 21(st) weeks of gestation was determined in this study. The association between NFA measurements and various congenital anomalies or fetal outcomes remains to be investigated.