Developmental disorders (DDs), such as autism spectrum disorder (ASD), incorporate various conditions; once identified, further diagnostics are necessary to specify their type and severity. The aim of this exploratory study was to identify genetic variants that can help differentiate ASD early from other DDs. We selected 36 children (mean age 60.1 months) with DDs using Developmental Behavioral Scales (DBS) through “EDUS-Education for All”, an organization providing services for children with DDs in Bosnia and Herzegovina. We further rated children’s autistic traits with the preschool version of the Childhood Autism Rating Scale, second edition (CARS-II). We defined ASD if scores were >25.5 and other DDs if scores were <25.5. Diagnosis of ASD and DD were independently confirmed by child psychiatrists. Whole exome sequencing (WES) was performed by Veritas Genetics, USA, using Illumina NovaSeq 6000 (Illumina Inc., San Diego, CA, USA) NGS sequencing apparatus. We tested genetic association by applying SKAT-O, which optimally combines the standard Sequence Kernel Association Test (SKAT) and burden tests to identify rare variants associated with complex traits in samples of limited power. The analysis yielded seven genes (DSE, COL10A1, DLK2, CSMD1, FAM47E, PPIA, and PYDC2) to potentially differentiate observed phenotypic characteristics between our cohort participants with ASD and other DDs. Our exploratory study in a small sample of participants with ASD and other DDs contributed to gene discovery in differentiating ASD from DDs. A replication study is needed in a larger sample to confirm our results.

The paper explores the recently published Dictionary of Obscure Sorrows (Koenig 2021) as a corpus of neologisms coined to express different emotions that are usually (and universally) experienced but not easily expressed by words. Created from different languages in contact, the newly-coined words will be used to further explore theoretical frameworks on linguistic creativity and the concept of the dictionary as the definitions of the words are given in English. The aim of the paper is to focus on the words proposed to express different emotions related to specific kinds of fear, isolation and anxiety. In relation to the words' manifestation in letter or sound, the paper will also address mentalese (Pinker 1994) as a framework and a concept proposing that lexicons need to co-operate in this unique kind of a dictionary that does not call for an active usage of the words coined but rather presents a dictionary that is a container of new emotions. / Keywords: mentalese, new emotions, languages in contact, multilingual dictionary, contemporary English

This scientific paper investigates the application of the Voltaire-Gurset-Riemann method in solving partial differential equations, using a flickering wire as an example. The method proves to be a powerful tool in the analysis of dynamic systems, providing a deeper understanding of flicker behavior in a wire. The developed numerical solutions enable precise modeling and prediction of the behavior of the flickering structure. This study highlights the key steps in applying the method to a concrete example, providing a useful basis for further research in the field of partial differential equations

Let $M$ be a finite volume hyperbolic Riemann surface with arbitrary signature, and let $\chi$ be an arbitrary $m$-dimensional multiplier system of weight $k$. Let $R(s,\chi)$ be the associated Ruelle zeta function, and $\varphi(s,\chi)$ the determinant of the scattering matrix. We prove the functional equation that $R(s,\chi)\varphi(s,\chi) = R(-s,\chi)\varphi(s,\chi)H(s,\chi)$ where $H(s,\chi)$ is a meromorphic function of order one explicitly determined using the topological data of $M$ and of $\chi$, and the trigonometric function $\sin(s)$. From this, we determine the order of the divisor of $R(s,\chi)$ at $s=0$ and compute the lead coefficient in its Laurent expansion at $s=0$. When combined with results by Kitano and by Yamaguchi, we prove further instances of the Fried conjecture, which states that the R-torsion of the above data is simply expressed in terms of $R(0,\chi)$.

Mammographic (or breast) density is an established risk factor for breast cancer, previously measured using a variety of quantitative, semi-automated and automated approaches. We present a new automated measure, AutoCumulus, learned from applying deep learning to semi-automated measures. We studied the mammograms of 9,057 population-screened women in the BRAIx program for which semi-automated measurements of mammographic density had been made by experienced readers using the CUMULUS software. The dataset was split into training, testing, and validation sets (80%, 10%, and 10%, respectively). We applied a deep learning regression model (fine-tuned ConvNeXtSmall) to estimate percentage density and assessed performance by the correlation between estimated and measured percent density using the testing dataset. The automated measure was independently tested using the CSAW-CC dataset in which density was measured using the LIBRA software by comparing measures for the left and right breasts, and the specificity for high sensitivity and the area under the receiver operating characteristic curve (AUC) for interval cancers. The correlation in percent density between the automated and human measures was 0.95. Based on the CSAW-CC dataset, AutoCumulus outperformed LIBRA in terms of the correlation between the left and right breast (0.95 versus 0.79; P < 0.001), specificity for 95% sensitivity (13% versus 10%; P < 0.001 using McNemar’s test), and AUC (0.638 versus 0.597; P < 0.01 using DeLong’s test) for interval cancers. We have created an automated measure of mammographic density that is highly accurate and allows rapid measurement of large numbers of mammograms. Compared with a well-established automated measure, AutoCumulus showed higher within-woman repeatability and modestly better prediction of interval cancers. These findings support its potential value as a scalable risk indicator, although further validation is required before clinical implementation.

Aim To determine a correlation between the localization of the parathyroid gland (PTG), based on ultrasound (US) examination and the operative findings, as well as the correlation between the size of the parathyroid glands measured by ultrasonography (USG) with pathological findings+, and prevalence of enlarged parathyroid glands in various forms of hyperparathyroidism. Methods A total of 83 patients with hyperparathyroidism who had undergone parathyroidectomy over a period of seven years were included in the study. US examinations of the neck and scintigraphy were performed before surgery in 83 and 42 patients, respectively. In the pathohistological analysis, in addition to diagnosis, the size and weight of the parathyroid gland were measured. Results US examination revealed 125 enlarged parathyroid glands and two normal-sized glands. Scintigraphy revealed 52 enlarged and three normal-sized parathyroid glands. Enlarged parathyroid glands were more frequently found in the projection of the lower pole thyroid glands. A significantly higher number of enlarged upper parathyroid glands were found by the operative findings than by US. There was no statistically significant difference in the diagnosis of enlarged parathyroid glands in all three forms of hyperparathyroidism. There was a positive correlation between the size of the parathyroid glands obtained by US and the size of the operative finding (κ=0.51; p=0.00 and p<0.0005, respectively). The relationship between parathyroid gland size measured by ultrasound and pathological analysis showed a positive correlation. Conclusion Ultrasound was useful in evaluating enlarged parathyroid glands, especially in combination with scintigraphy.

BACKGROUND Educational mobility at the macro-level is a common measure of social inequality. Nonetheless, the correlates of mobility of education at the individual level are less well studied. We evaluated whether educational mobility of the second generation (compared to the first generation level) predicts differences in parenting practices of the second generation and school achievement and intelligence in the third generation. METHODS Data from a population-based cohort of children in the Netherlands (N = 3547; 49.4% boys) were analyzed. Maternal, grandparental education and family routines, a parenting practice, were reported by the mother. Child school achievement at the end of primary school (∼12 years, with the national Dutch academic test score) and child intelligence (∼6 and 13 years) were measured in a standardized manner. Also, a child genome-wide polygenic score of academic attainment was calculated. To estimate the effect of educational mobility, inverse probability-weighted linear models and Diagonal Reference Models (DRM) were used. RESULTS Upward maternal educational mobility was associated with better offspring school achievement, higher intelligence, and more family routines if compared to offspring of mothers with no upward mobility. However, mothers did not implement the same level of family routines as similarly educated mothers and grandfathers who already had achieved this educational level. Likewise, children of mothers with upward educational mobility had lower school achievement and intelligence than children of similarly educated mothers with no mobility. Child's genetic potential for education followed a similar association pattern with higher potential in children of upward mobile mothers. CONCLUSION Policymakers might overlook social inequalities when focused on parental socioeconomic status. Grandparental socioeconomic status, which independently predicts child school achievement, intelligence, and parental family routines, should also be assessed. The child's genetic endowment reflects the propensity for education across generations that partly underlies mobility and some of its effect on the offspring.

Aim To determine the success of endovenous laser ablation (EVLA) treatment and long-term occlusion of small saphenous vein (SSV), as well as factors and conditions that influence the effectiveness of EVLA treatment. Methods A total of 250 patients treated with EVLA method over a period of seven years were followed one year after treatment. The main factors monitored and recorded during EVLA treatment were laser power (W), amount of delivered energy (J), duration of treatment (sec), veins length (cm), diameter (mm) and reflux (sec). Results Within the first six months, the recanalization or insufficiently occluded SSV was noticed in ten, and after one year in one patient. The overall assessment of occlusion and satisfactory findings after one year of SSV was 95.6%. Conclusion It is important to choose adequate power and the amount of delivered energy. The physician's assessment and selection of an adequate patient greatly improves the outcome of the treatment. It is important to treat larger branches and double SSV between two fascias. Successful and effective EVLA treatment greatly reduces the possibility of recanalization of the treated vein.

Background and Objectives: To investigate the role of augmented reality (AR) in skull base (SB) neurosurgery. Materials and Methods: Utilizing PRISMA methodology, PubMed and Scopus databases were explored to extract data related to AR integration in SB surgery. Results: The majority of 19 included studies (42.1%) were conducted in the United States, with a focus on the last five years (77.8%). Categorization included phantom skull models (31.2%, n = 6), human cadavers (15.8%, n = 3), or human patients (52.6%, n = 10). Microscopic surgery was the predominant modality in 10 studies (52.6%). Of the 19 studies, surgical modality was specified in 18, with microscopic surgery being predominant (52.6%). Most studies used only CT as the data source (n = 9; 47.4%), and optical tracking was the prevalent tracking modality (n = 9; 47.3%). The Target Registration Error (TRE) spanned from 0.55 to 10.62 mm. Conclusion: Despite variations in Target Registration Error (TRE) values, the studies highlighted successful outcomes and minimal complications. Challenges, such as device practicality and data security, were acknowledged, but the application of low-cost AR devices suggests broader feasibility.