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The transcription factor ZEB2 is essential for early embryonic development. Using CRISPR/Cas9, we generated a ZEB2 deficient human iPSC cell line (KICRi002A-4), carrying a homozygous 790 bp deletion in ZEB2 that involves part of exon 5, intron 5 and part of exon 6. The deletion leads to markedly reduced levels of a truncated ZEB2 transcript. No ZEB2 protein was detected by immunopreciptation. The iPSC line expressed pluripotency markers and showed a capacity to differentiate into the three germ layers in vitro. Assessment of genomic integrity revealed a normal karyotype without detectable OFF-target editing. The iPSC line KICRi002A-4 thus offers a valuable resource to study the role of ZEB2 for the commitment and differentiation of various human cell lineages.

Background: Bimaxillary surgeries (BiMax) are an essential part of the craniomaxillofacial specialty. The osteotomies and subsequent spatial rearrangement of the maxilla and the mandible enable the correction of facial deformities, asymmetry, and malocclusion. Moreover, the movements performed during the procedure affect the morphology of surrounding soft tissues, including the upper airway (UA). Objectives: The objective of this study was to radiologically assess the potential volumetric alterations of the UA in the supine position at various intervals following BiMax advancement surgeries. Methods: A group of 31 patients who underwent BiMax advancement surgery were included in the study. Medical computed tomography (CT) of the head and neck region was performed 2 weeks preoperatively, 1 day postoperatively, and 6 months postoperatively. The UA volumes were calculated and analyzed based on the acquired Digital Imaging and Communications in Medicine (DICOM) files using different software applications. The sella-nasion-A point (SNA) and sella-nasion-B point (SNB) angles were evaluated to measure the achieved maxillomandibular advancement. Results: When comparing the volume of the UA before surgery, post-surgery, and 6 months post-surgery, the p-value was p-values being Conclusions: BiMax advancement surgeries result in the significant enlargement of the UA. The volume of the UA does not diminish immediately following the procedure and is not constant; it increases significantly during the postoperative observation period.

Background/Objectives: This study aims to systematize the ability to use ROE to assess rhinoplasty outcomes in surgical approaches. Methods: The PubMed, Scopus, and Web of Science databases were searched for the following terms: “rhinoplasty and outcome” OR “prognosis” OR “outcomes” OR “satisfaction” OR “quality of life” OR QoL “rhinoplasty outcome evaluation”. The timeframe of the included studies is from 2011 to May 2024. Ultimately, 17 papers were included in the conducted meta-analysis of ROE scores between pre- and post-treatment data. Results The mean value of the pre-treatment ROE score was 33.50 with a CI of 29.46 to 37.53 (p < 0.001), while the post-treatment ROE was 69.60 with a CI of 63.07 to 76.14 (t ≤ 6 months). At t = 12 months it was 80.25 with a CI of 75.79 to 84.70 (p < 0.001). The mean difference between pre-treatment and post-treatment scores (t ≤ 6 months) was −36.31 with a CI of −40.93 to −31.69. The mean difference between pre-treatment and post-treatment scores for 6 m < t ≤ 12 m was −47.36 with a CI of −53.89 to −40.83. Conclusions: The result was statistically significant (p < 0.001).

Objectives Objective was to find personality traits in singers performing various music styles and with different singing status. Material and Methods The study consisted of 87 singers (66 females, 21 males; age: M±SD 25.5±8.2 years; 40 students, 22 professionals and 25 amateurs; 38 classical singers, 42 contemporary commercial music [CCM] singers; 55 solo singers and 22 choral singers). Participants filled in the NEO Five-Factor Inventory questionnaire and demographic information form. Results Median values compared to the Polish general population, suggest that solo, CCM, student and professional singers have a high level of conscientiousness. Those who sing in a choir, classical music, amateurs and students have relatively high level of agreeableness. High level of extraversion is observed among CCM singers and students. Students score higher on extraversion then professionals (p < 0.001). Professionals score higher on extraversion then amateurs (p < 0.01). Professionals less frequently than amateurs and students score high on agreeableness (p < 0.001). High scores on conscientiousness are significantly higher among professionals and students compared to amateurs (p < 0.001 in both cases). Solo singers have higher level of conscientiousness (p < 0.001) and openness (p < 0.001) and lower neuroticism (p < 0.01) than choral singers. Classical singers more often than CCM singers score low on openness (p < 0.01) and high on agreeableness (p < 0.01). Conclusions Classical singers have lower level of openness and higher level of agreeableness than CCM singers. Neuroticism is higher among choir than solo singers and conscientiousness is higher among solo than choir singers. Amateurs had the highest level of neuroticism and the lowest level of conscientiousness as compared with professional singers and students. Int J Occup Med Environ Health. 2023;36(4):541–50

Background: Bimaxillary surgery is an elemental procedure in the field of cranio-maxillofacial surgery. It allows for the correction of even the most challenging cases of maxillomandibular disorders, malocclusion, facial asymmetry, and disproportion. The osteotomies and maneuvers carried out during the procedure result in changes to the surrounding tissues, including the maxillary sinuses (MS). The aim of this study was to assess the change in the maxillary sinus volume and the thickness of the mucosa after maxillomandibular advancement (MMA) surgeries. Methods: A group of 25 patients who underwent MMA surgery were included in the study. Computed tomography (CT) of the head and neck region was performed 2 weeks preoperatively and 6 months postoperatively. Acquired Digital Imaging and Communications in Medicine (DICOM) files were analyzed using different software programs to calculate the medium MS mucosa thickness and MS volume. Results: A statistically significant reduction in MS volume was observed (p = 0.015). The change in the median thickness of the MS mucosa was not statistically significant. The median sella-nasion-A point angle (SNA angle) value of the group increased from 80.2 to 83.4 degrees. A weak negative correlation between the SNA delta and the MS volume delta was observed. Spearman’s rank coefficient: (ρ s = −0.381, p = 0.060). Conclusions: The MMA surgery results in a reduction in the MS volume. The amount of forward movement of the maxilla may be correlated with the extent of the MS volume reduction.

BackgroundVitamin D affects adipogenesis, oxidative stress, inflammation, secretion of adipocytokines, lipid metabolism and thermogenesis. Some researchers postulate that those effects could be exerted by the influence of vitamin D on chemerin levels.Aim of the studyWe aimed to investigate if there is a link between serum 25-hydroksyvitamin D [25(OH)D], chemerin and metabolic profile in overweight and obese children before and after vitamin D supplementation.Material and methodsThe prospective study included 65 overweight and obese children aged 9.08-17.5 years and 26 peers as a control. None of the patients in the study group had received vitamin D within the last twelve months before the study.ResultsThe study group had lower baseline 25(OH)D (p

Introduction and objective Early detection of trunk rotation abnormalities in schoolchildren should be a basis for the prevention of three-plane spinal deformities. Scoliometric evaluation enables reliable, reproducible selection of schoolchildren requiring extended orthopaedic diagnostics. The accepted SOSORT recommendations for the interpretation of trunk rotation angle values need to be popularized mainly in preventive health care teams. The aim of the study was to evaluate trunk rotation angles and total trunk rotation in schoolchildren aged 8–12 years in two body positions. Material and methods The study group consisted of 72 schoolchildren randomly recruited for the project. Angle of Trunk Rotation (ATR) was measured using Bunnell scoliometer at three levels of the spine, in two positions: standing and sitting. Based on the obtained values the Sum of Trunk Rotation (SR) was calculated. Results Statistically significant differences in ATR at the level of Th5-TH12 were observed between standing and sitting position, and between the values of global trunk rotation. From the total number of the schoolchildren in the study, 14 (4 girls and 10 boys) were selected for performing further diagnostics. Conclusions The study carried out in a small group of schoolchildren attending one of primary schools in Warsaw shows the importance of early screening for AIS. Measurement of ATR using an inexpensive instrument such as a scoliometer enables an objective assessment of postural immaturity and referral for further orthopaedic evaluation. However, a prerequisite for proper, reproducible assessment is the widespread education of school screening teams.

This study aims to systematise subfoveal choroidal thickness (SFCT) measured using optical coherence tomography (OCT) in patients with different severities of thyroid eye disease (TED) compared with healthy subjects. The PubMed, Web of Science and Scopus databases were searched for the following terms: ((Graves’ ophthalmopathy) OR (thyroid eye disease) OR (Graves’ orbitopathy) OR (thyroid-associated orbitopathy)) AND (choroidal thickness) AND ((optical coherence tomography) OR (OCT)). The pool of papers was narrowed down to articles published until 31 January 2023 (26, 26 and 96 papers, respectively). Twenty-five (25) articles were taken into consideration, which were original papers and included the choroidal thickness measurements among TED patients in their results. Finally, eight papers were included in the comparative analysis of the SFCT parameter in TED patients and a group of healthy controls, and seven papers in the comparative analysis of the same parameter between active and inactive TED patients. The mean value of the difference between the TED group and the healthy group was 38.79 μm, with a confidence interval (CI) from 0.09 to 77.49 μm (p = 0.0495). The mean difference between the active TED group and inactive TED group was 38.02 μm, with a CI from 8.62 to 67.42 μm (p = 0.0113). All the results were statistically significant.

BackgroundObesity is related to changes in adipokine secretion, activity of adipose tissue macrophages, helper T cells, and regulatory T cells. It has been confirmed that vitamin D has potent anti-inflammatory properties. It contributes to reduction in pro-inflammatory mediators and an increase in anti-inflammatory cytokines. There is also evidence that vitamin D could decrease C-reactive protein (CRP) and affect selected haematological indices.Aim of the StudyWe aimed to evaluate the effect of vitamin D on interleukin (IL)-10, IL-17, CRP, blood leukocyte profile, and platelet (PLT) count in overweight and obese children before and after six months of vitamin D supplementation.Material and MethodsThe study group consisted of 67 overweight and obese children aged 9.08-17.5 years. The control group included 31 normal weight peers age- and sex-matched. None of the studied children had received vitamin D supplementation before the study. Data were analyzed at baseline and after vitamin D supplementation.ResultsThe study group had lower baseline 25(OH)D (p

Aim: Evidence shows that 20%-30% of patients who aspirate do so silently. Research to date has not demonstrated clear evidence to indicate which patients are at higher risk of silent aspiration. Our aim was to use univariate logistic regression analysis of retrospective case review to determine potential patterns of silent aspiration. Materials and methods: We conducted a retrospective analysis of 455 fiberoptic endoscopic evaluation of swallowing (FEES) reports. The patients were divided into four groups: G1 -- neurological diseases (n = 93), G2 -- head and neck surgery (n = 200), G3 -- gastroenterological diseases (n = 94) and G4 -- other patients (n = 68). Data included the occurrence or absence of saliva penetration or aspiration, of silent fluid/solid food penetration or aspiration, type of penetration or aspiration, occurrence of cranial nerve paresis, radiotherapy and tracheostomy. Univariate logistic regression was used to evaluate independent risk factors of silent aspiration in the study population. Three models with different independent variables were considered. Results: There is a statistically significant difference in the frequency of occurrence of silent penetration and aspiration within the groups (p < 0.001), with intraglutative being most frequent. Fluid and food penetration and aspiration correlated with saliva penetration and aspiration in all groups (p < 0.001). Cranial nerve paresis (IX and X), radiotherapy and tracheostomy correlate with saliva penetration and aspiration (p = 0.020 for cranial nerve paresis; p = 0.004 for radiotherapy; p < 0.001 for tracheostomy). One hundred and fifteen patients (45.81%) in the subgroup of patients with intraglutative aspiration had cranial nerve paresis (IX, X or IX-X). Conclusions: Patients who should be prioritised or considered to be at a higher need of instrumental swallowing evaluation are those with IX and X cranial nerve paresis, tracheostomy and those who have had radiotherapy, with saliva swallowing problems, especially after paraganglioma, thyroid and parathyroid glands and middle and posterior fossa tumour surgery.

Background: Some endocrine disorders, previously considered benign, may be related to a poorer prognosis for patients with renal failure. Both low serum free triiodothyronine (fT3) and low total testosterone (TT) concentrations have been considered as predictors of death in dialysis patients, but the results of studies are inconsistent. In our study, we evaluated the relationships of the serum thyroid hormone levels and the total testosterone levels with survival in male dialysis patients. Methods: Forty-eight male dialysis patients, 31 on hemodialysis (HD) and 17 on peritoneal dialysis (PD), aged 61.4 ± 10.0, 59.2 ± 12.2 years, respectively, were included in the study. Serum thyroid hormones and total testosterone were measured. Results: During the 12-month follow-up, nine all-cause deaths were recorded. The concentrations of fT3 were significantly lower in those who died than in the survivors (p = 0.001). We did not observe any statistically considerable differences between the group of men who died and the rest of the participants in terms of the total serum testosterone concentration (p = 0.350). Total testosterone positively correlated with fT3 (r = 0.463, p = 0.009) in the HD group. Conclusions: In the group of male dialysis patients, the serum concentration of fT3 had a better prognostic value in terms of survival than the total testosterone. A linear relationship between the fT3 levels and testosterone levels in men undergoing hemodialysis may confirm the hypothesis that some of the hormonal changes observed in chronic kidney disease (CKD) may have a common cause.

Introduction: There are no official diagnostic protocols for singing voice assessment. In this publication, on the basis of a literature review, standards for the singing voice handicap index exclusively dedicated to voice disorders in singing have been given. Objective: The study aims to determine the normative values for the singing voice handicap index. Methods: The study is a systematic review and a meta-analysis. A systematic literature search was performed using PubMed to access relevant databases and to locate outcome studies. The “inclusion” criteria were as follows: English language, original papers and human studies retrospective and prospective papers, cross-sectional and case-control studies. Results: Eight articles were included for the final analysis. The normative value for the singing voice handicap index was 20.35 with a confidential range of 10.6–30.1 for a group of 729 healthy subjects whose voices were judged as normal, with an age range of 16–64 years. Conclusion: The mean normative value of the singing voice handicap index was 20.35 with the confidence levels between 10.6 and 30.1. Resumo: Introdução: Não há protocolos diagnósticos oficiais para avaliação de voz no canto. Nesse estudo baseado em uma revisão de literatura, são fornecidos padrões para o índice de desvantagem vocal no canto exclusivamente dedicado a distúrbios vocais no canto. Objetivo: Determinar os valores normativos para o índice de desvantagem vocal no canto. Método: O estudo é uma revisão sistemática com metanálise. Uma busca sistemática da literatura foi feito no PubMed para acessar bancos de dados relevantes e para localizar estudos de desfecho. Os critérios de inclusão foram: estudos escritos em inglês, artigos originais e estudos em seres humanos, retrospectivos e prospectivos, estudos transversais e de caso-controle. Resultados: Oito artigos foram incluídos na análise final. O valor normativo para o índice de desvantagem vocal no canto foi de 20,35 com intervalo de confiança de 10,6 a 30,1 em um grupo de 729 indivíduos saudáveis cujas vozes foram consideradas normais, de 16 a 64 anos. Conclusões: O valor normativo médio do índice de desvantagem vocal no canto foi de 20,35 com intervalo de confiança entre 10,6 e 30,1.

Introduction Triple-negative breast cancer (TNBC) is associated with lack of expression of estrogen and progesterone receptors and HER2 and is the subgroup of breast cancers with the worst prognosis. Osteopontin is a phosphorylated glycoprotein whose overexpression may occur in pathological states such as cancers. The main purpose of our study was to evaluate the immunohistochemical expression of osteopontin in connection with the analysis of recognized clinical and pathological prognostic factors in primary sites of TNBC with and without lymph node metastases. Material and methods The immunohistochemical evaluation of osteopontin expression in 35 women with TNBC, chosen from a group of 726 patients, was performed. The material came from the excisional biopsies of primary breast cancers and total mastectomies. Results All patients showed expression of osteopontin, in most cases the expression of osteopontin rated at [+] (57.1%) and [++] (42.9%). Our study analyzed the relationship between the expression of osteopontin and traditional prognostic markers, such as the tumor grade, size, and lymph node involvement. We found a strong relationship only between the expression of osteopontin and the presence of lymph node metastases (p ≤ 0.0001). 93% of patients for whom the expression of osteopontin was determined at [++] had metastasis to lymph nodes and, for comparison, only 15% of women for whom the expression of osteopontin was rated at [+] showed the presence of metastases in the lymphatic nodes. Conclusions There is a correlation between osteopontin expression and the presence of lymph node metastases in TNBC, suggesting that osteopontin plays an important role in the invasiveness of TNBC.

Heterozygous variants in POLR2A, encoding the largest subunit of RNA polymerase II, cause severe neurodevelopmental and multisystem abnormalities in humans. Using CRISPR/Cas9 we generated the human iPSC line KICRi002A-5 with a heterozygous truncating 4 bp insertion in exon 5 of the POLR2A gene. Analysis using qRT-PCR confirmed reduced POLR2A mRNA in KICRi002A-5 vs. the isogenic WT iPSC line. The edited iPSC line expressed pluripotency markers and exhibited differentiation capacity into the three germ layers. Assessment of genomic integrity revealed a normal karyotype and OFF-target editing was excluded. The iPSC line KICRi002A-5 provides a useful resource to study mechanisms underlying developmental defects caused by RBP1 insufficiency.

(1) Purpose: This study aimed to investigate the changes in Reichert Ocular Response Analyzer (ORA) parameters, corneal endothelium parameters, central corneal thickness (CCT), and intraocular pressure (IOP) before and after the transsphenoidal resection of pituitary adenoma in patients with acromegaly. (2) Methods: This was a single-center, prospective, interventional study. Twenty patients with newly diagnosed acromegaly were examined before and 19 ± 9 months after transsphenoidal resection. The participants underwent a comprehensive ophthalmological examination including pneumatic IOP (IOP air puff), Goldmann applanation tonometry (IOP GAT), CCT measured using the iPac pachymeter (CCTUP), IOP value corrected for CCTUP using the Ehlers formula (IOPc) ORA measurements included corneal hysteresis (CH), corneal resistance factor (CRF), corneal-compensated IOP (IOPcc), and Goldmann-correlated IOP (IOPg). CCT from non-contact specular microscopy (CCTNSM), the number of endothelial cells (CD) per mm2, and average cell size (AVG) were determined with non-contact specular microscopy. (3) Results: A statistically significant decrease was observed in CCTUP (p = 0.007), and IOP air puff (p = 0.012) after surgery. Moreover, we noted a statistically significant increase in CD (p = 0.001), and a statistically significant decrease in AVG (p = 0.009) and CCTNSM (p = 0.004) after surgery. A statistically significant decrease was also observed in IOPg (p = 0.011), CH (p = 0.016), and CRF (p = 0.001) after surgery. The mean value of IOP GAT and IOPc was lower after the surgery. However, the difference was not statistically significant. (4) Conclusions: Our study revealed significant changes in biomechanics, corneal endothelium, CCT and IOP after pituitary adenoma resection in patients with acromegaly. It proves that the eye might be sensitive to long-term overexposure to growth hormone (GH) and insulin-like growth factor-1 (IGF-1). We suggest that disease activity be taken into consideration on ophthalmological examination.

Background: Chronic kidney disease (CKD) is associated with an accelerated risk of cardiovascular mortality. Hormonal and metabolic disorders in CKD may constitute novel risk factors. Our objective was to characterize and evaluate prognostic implications of circulating sex steroids and selected nutritional parameters in patients at different stages of CKD. Methods: Studied groups were composed of 78 men: 31 on hemodialysis (HD), 17 on peritoneal dialysis (PD), 30 with CKD stage G3-G4. Total testosterone (TT), dehydroepiandrosterone sulphate (DHEA-S), androstenedione, luteinizing hormone (LH), prolactin (PRL), and biochemical parameters were measured; Free testosterone (FT) was calculated. Results: The lowest TT and FT were observed in HD, the highest- in CKD (p = 0.006 for TT, p = 0.005 for FT). TT positively correlated with total cholesterol in HD (p = 0.012), FT negatively correlated with BMI in CKD (p = 0.023). During the 12 months, 9 patients died (5 in the HD, 4 in the PD group). The deceased group had significantly lower concentrations of albumin (p = 0.006) and prealbumin (p = 0.001), and a significantly higher concentration of androstenedione (p = 0.019) than the surviving group. In the group of men on dialysis, a serum TT concentration p = 0.198). After analysis of the ROC curves, the FT level was the best prognostic marker in HD (AUC = 0.788; 95% CI: 0.581–0.996; p = 0.006) Conclusions: Total and free testosterone levels were lower in the HD group than in the CKD group. The nutritional status undoubtedly affects the survival of dialysis patients but also the concentrations of testosterone significantly contributes to further worsening the prognosis.

Introduction Medullary breast cancer (MdBC) is an uncommon type of breast cancer representing 1–7% of all cases. It is characterized by the occurrence of many histopathological features associated with a high grade of malignancy. Material and methods Twelve MdBCs chosen from a group of 1,122 women suffering from invasive breast cancer were analyzed. Histopathological examination and analysis of a basic molecular profile, i.e. estrogen (ER), progesterone (PR) and HER2 receptor expression, and their comparison with invasive ductal breast cancer (IDC), were performed. Results MdBC accounted for 1.07% of all analyzed invasive breast cancer patients. All patients were female, with an average age of 58.54 years. The MdBC group exhibited a larger median tumor diameter (2.05 vs. 1.89 cm), although ≥ T2 tumors comprised 42% vs. 51% for IDCs. Women without regional lymph node involvement (pN0) (83%) formed the largest group. There was a statistically significant difference in the presence of nodal involvement between the studied groups (p < 0.001). Based on the histological grade of malignancy, the majority of MdBC comprised grade II tumors (G2) (93%). In general, MdBC showed statistically higher histologic grade (G1-G3) than IDC (p = 0.003). The 5-year overall survival rate of MdBC patients was 91%. Most MdBCs (92%) were triple-negative, whereas the remaining 8% were HER2 positive. Conclusions MdBC presented at a younger age than IDC, had a higher histological grade, larger median size and less frequent regional lymph node involvement. Most MdBCs were triple-negative, whereas IDCs were predominantly luminal. Despite numerous aggressive pathological features of MdBC, its clinical outcome and overall prognosis are favorable.

Down syndrome (DS) is caused by trisomy for chromosome 21 (T21). We generated two induced pluripotent stem cell (iPSC) lines from skin fibroblasts of two males with DS using Sendai virus delivery of OCT4, SOX2, KLF4, and c-MYC. Characterization of the two iPSC lines, UUIGPi013-A and UUIPGi014-A, showed that they are genetically stable with a 47,XY,+21 karyotype. Both lines displayed expression of pluripotency markers and trilineage differentiation capacity. These two iPSC lines provide a useful resource for DS modeling and pharmacological interventions.

The role of Neurochondrin (NCDN) in humans is not well understood. Mice with a conditional Ncdn knock-out show epileptic seizures, depressive-like behaviours and impaired spatial learning. Using CRISPR/Cas9, we generated a Neurochondrin deficient human iPSC line KICRi002-A-3 carrying a homozygous 752 bp deletion / 2 bp insertion in the NCDN gene. The iPSC line maintained a normal 46,XY karyotype, expressed pluripotency markers and exhibited capability to differentiate into the three germ layers in vitro. Off-target editing was excluded and Neurochondrin expression was not detectable. The iPSC line offers a valuable resource to study the role of Neurochondrin during human neurogenesis.

Dravet syndrome (DS) is an early onset refractory epilepsy typically caused by de novo heterozygous variants in SCN1A encoding the α-subunit of the neuronal sodium channel Nav1.1. The syndrome is characterized by age-related progression of seizures, cognitive decline and movement disorders. We hypothesized that the distinct neurodevelopmental features in DS are caused by the disruption of molecular pathways in Nav1.1 haploinsufficient cells resulting in perturbed neural differentiation and maturation. Here, we established DS-patient and control induced pluripotent stem cell derived neural progenitor cells (iPSC NPC) and GABAergic inter-neuronal (iPSC GABA) cells. The DS-patient iPSC GABA cells showed a shift in sodium current activation and a perturbed response to induced oxidative stress. Transcriptome analysis revealed specific dysregulations of genes for chromatin structure, mitotic progression, neural plasticity and excitability in DS-patient iPSC NPCs and DS-patient iPSC GABA cells versus controls. The transcription factors FOXM1 and E2F1, positive regulators of the disrupted pathways for histone modification and cell cycle regulation, were markedly up-regulated in DS-iPSC GABA lines. Our study highlights transcriptional changes and disrupted pathways of chromatin remodeling in Nav1.1 haploinsufficient GABAergic cells, providing a molecular framework that overlaps with that of neurodevelopmental disorders and other epilepsies.

Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2). We generated the first human iPSC lines from primary fibroblasts of two siblings with MWS carrying a heterozygous ZEB2 stop mutation (c.1027C > T; p.Arg343*) using the Sendai virus reprogramming system. Both iPSC lines were free from reprogramming vector genes, expressed pluripotency markers and showed potential to differentiate into the three germ layers. Genetic analysis confirmed normal karyotypes and a preserved stop mutation. These iPSC lines will provide a useful resource to study altered neural lineage fate and neuropathophysiology in MWS.

Dravet syndrome (DS) is a childhood epilepsy syndrome caused by heterozygous mutations in the SCN1A gene encoding voltage-gated sodium channel Nav1.1. We generated iPSCs from fibroblasts of three DS patients carrying distinct SCN1A mutations (c.5502-5509dupGCTTGAAC, c.2965G>C and c.651C>G). The iPSC lines were genetically stable and each line retained the SCN1A gene mutation of the donor fibroblasts. Characterization of the iPSC lines confirmed expression of pluripotency markers, absence of exogenous vector expression and trilineage differentiation potential. These iPSC lines offer a useful resource to investigate the molecular mechanisms underlying Nav1.1 haploinsufficiency and for drug development to improve treatment of DS patients.

Improved culture methods are needed to reliably grow human pluripotent stem cells (hPSCs) on a large scale. Here, the authors identify a xeno-free medium with a supplement of Inter-α-inhibitor that supports long-term propagation and improved single-cell passaging of hPSCs on uncoated plastic.

Koczkodaj Pawel, Sobol Maria, Badowska-Kozakiewicz Anna Maria. Ocena wiedzy uczniów warszawskich szkół średnich na temat skutków zdrowotnych wynikających z nadmiernego korzystania z promieniowania ultrafioletowego (UV) = Knowledge assessment about health effects caused by excessive use of ultraviolet radiation (UV) among high school students in Warsaw. Journal of Education, Health and Sport. 2016;6(5):94-110. eISSN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.51293 http://ojs.ukw.edu.pl/index.php/johs/article/view/3512 The journal has had 7 points in Ministry of Science and Higher Education parametric evaluation. Part B item 755 (23.12.2015). 755 Journal of Education, Health and Sport eISSN 2391-8306 7 © The Author (s) 2016; This article is published with open access at Licensee Open Journal Systems of Kazimierz Wielki University in Bydgoszcz, Poland Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. The authors declare that there is no conflict of interests regarding the publication of this paper. Received: 05.04.2016. Revised 25.04.2016. Accepted: 10.05.2016. Ocena wiedzy uczniów warszawskich szkół średnich na temat skutków zdrowotnych wynikających z nadmiernego korzystania z promieniowania ultrafioletowego (UV) Knowledge assessment about health effects caused by excessive use of ultraviolet radiation (UV) among high school students in Warsaw Paweł Koczkodaj1, Maria Sobol2, Anna Maria Badowska-Kozakiewicz3 Pawel Koczkodaj1, Maria Sobol2, Anna Maria Badowska-Kozakiewicz3 Zakład Biofizyki i Fizjologii Człowieka, Warszawski Uniwersytet Medyczny Department of Human Biophysics and Physiology, Medical University of Warsaw Słowa kluczowe: promieniowanie ultrafioletowe (UV), choroby skóry, czerniak, profilaktyka, edukacja zdrowotna. Key words: ultraviolet radiation (UV), skin diseases, melanoma, prevention, health education. Streszczenie 1. Wprowadzenie i cel pracy Promieniowanie ultrafioletowe jest obecne w codziennym życiu każdego człowieka. Stale rosnąca liczba nowych przypadków nowotworów złośliwych skóry w Polsce i na świecie może sugerować brak odpowiedniej wiedzy w zakresie fotoprotekcji. Podnoszenie świadomości społecznej, szczególnie wśród młodych ludzi, odnośnie skutków zdrowotnych nadmiernego działania promieniowania UV, pełni kluczową rolę w odniesieniu do ich obecnego i przyszłego stanu zdrowia. Celem przeprowadzonego badania była ocena poziomu wiedzy uczniów warszawskich szkół średnich na temat skutków zdrowotnych wynikających z nadmiernego korzystania z promieniowania ultrafioletowego, a także poznanie zachowań zdrowotnych młodych osób podczas korzystania z promieniowania UV. 2. Materiał i metodyka Zbadano 153 uczniów warszawskich szkół średnich. Rozkład płci był losowy, przedział wiekowy badanych wynosił od 17 do 19 lat. Badanie zostało przeprowadzone przy pomocy autorskiego kwestionariusza w wersji papierowej, składającego się z 29 pytań. Do zbadania związku między wybranymi cechami został zastosowany test niezależności chi-kwadrat (χ2) (pakiet STATISTICA12). W testach przyjęto poziom istotności p≤0,05. W zależności od liczebności zastosowano właściwe poprawki do testu chi-kwadrat. 3. Wyniki i wnioski Nie wystąpiła zależność pomiędzy takimi cechami jak: korzystanie z urządzeń opalających i postrzeganie poparzenia skóry jako czynnika kancerogennego, korzystanie z solarium i regularne przeglądanie znamion barwnikowych, wystąpienie czerniaka złośliwego skóry w przeszłości w rodzinie i korzystanie z urządzeń opalających, wystąpienie poparzenia skóry i częstość stosowania preparatów z filtrem UV. Powyższe wyniki mogą świadczyć o niekompletności wiedzy ankietowanych w zakresie wpływu UV na zdrowie człowieka. Abstract 1. Introduction and aim Ultraviolet radiation is present in the daily life of every human being. The constantly growing number of new cases of skin cancer in Poland and in the world can suggest a lack of adequate knowledge of photoprotection. Raising public awareness, especially among young people about the health effects of excessive UV radiation use, plays a key role in relation to their current and future health. The aim of the study was to assess the level of knowledge among high school students in Warsaw about the health effects resulting from excessive use of ultraviolet radiation, as well as knowledge concerning health behaviors of young people using UV radiation. 2. Material and methods The study group consists of 153 students from Warsaw high schools. The gender distribution was random, the age range of the respondents was 17 to 19 years. The study was conducted using paper questionnaire, consisting of 29 questions. To examine the relationship between the selected traits has been applied test of independence chi-square (χ2) (STATISTICA12 package). In tests the level of significance was p≤0.05. Depending on the size used appropriate amendments to the chi-square test. 3. Results and conclusions There was no relationship between such features as: the use of tanning devices and perception of skin burns as a carcinogenic factor, the use of the solarium and regularly reviewing pigmented moles, the occurrence of malignant melanoma of the skin in the past in the family and the use of tanning devices, the occurrence of skin burns and frequency of use of formulations with UV protection. This may indicate incomplete knowledge of the respondents in terms of the impact of UV on human health.

Introduction. Direct oral anticoagulants (DOAC) are the first-line treatment for primary and secondary acute ischaemic stroke (AIS) prevention in patients with nonvalvular atrial fibrillation (NVAF), but a significant percentage of patients develop AIS despite being treated with DOAC. As the number of DOAC-treated patients is growing, so is the number of patients with AIS on DOAC. The aim of the study was to assess the incidence of AIS with prestroke DOAC treatment among patients hospitalised in the University Hospital in Kraków, to analyse the clinical characteristics of AIS occurring in patients on DOAC, and to identify potential causes of treatment ineffectiveness in this group. Materials and Methods. In the study, we included all patients hospitalised in the Department of Neurology of the University Hospital in Kraków within one year (July 2022 to June 2023) with the diagnosis of AIS. The group was divided into two subgroups of patients with and without prestroke DOAC treatment. Based on medical files, we retrospectively analysed the profile of cardiovascular risk factors, stroke severity (assessed with National Institutes of Health Stroke Scale, NIHSS), use of causative stroke treatment and short-term outcomes (defined as NIHSS score, modified Rankin scale (mRS) score at discharge, in-hospital mortality, and secondary intracerebral haemorrhage among patients treated with mechanical thrombectomy, MT). Within the DOAC-treated subgroup, we looked for potential causes of AIS occurring despite DOAC treatment (valvular AF, poor adherence to treatment, underdosing, other prothrombotic conditions, aetiology of stroke other than thromboembolic, and drug-drug interactions). Results. In the study, we included 768 AIS patients. 109 (14.2%) had a history of prestroke DOAC treatment. A potential cause of DOAC treatment failure was identified in the majority of them (n=63, 57.8%). Patients with prestroke DOAC treatment had worse functional condition before stroke and higher stroke severity on admission but similar short-term outcomes and similar short-term effects of treatment with MT. DOAC (+) and DOAC (-) patients had different profiles of cardiovascular risk factors and different factors associated with short-term outcome. Conclusions and Clinical Implications. A potential cause of AIS occurring in DOAC-treated patients can be identified in most cases and in many of them prevented.