The role of thoracic surgery in the management of complicated acute and post-acute COVID-19 pneumonia (PASC).

INTRODUCTION: COVID-19 is considered a respiratory virosis in its classic form, although it may present with heterogeneous symptoms. Thoracic complications occur in a small percentage of patients. Our objective was to evaluate existing experience with this disease and its thoracic manifestations and to determine the real-world status of care of these patients. METHODS: This study is a retrospective, single-institution analysis of a group of patients hospitalized with acute and post-acute COVID-19 pneumonia at Thomayer Hospital in Prague in the period from December 2020 to March 2022 and indicated for a thoracic surgical procedure. RESULTS: During the peak of COVID-19 pandemic, a thoracic intervention was performed in 46 admitted patients. Thoracic drainage (due to pneumothorax in 18 cases, fluidothorax in 3 cases, CT-guided lung abscess drainage in 2 cases, and CT-guided pneumatocele drainage in 2 cases) were the most common thoracic surgical procedures. Pleurectomy/decortication surgery was done in 10 cases. Additionally, 12 lung parenchyma-sparing resections were performed, while lobectomy was required in 2 cases. Resection of postintubation tracheal stenosis due to a severe course of COVID-19 pneumonia was indicated in 2 patients. CONCLUSION: Even mild COVID-19 may cause a considerable morphological a functional alteration of the respiratory system. The most common complications of COVID-19 pneumonia that require a thoracic surgical intervention include pathologies associated with an air leak and accumulation of air (pneumothorax, pneumomediastinum and subcutaneous emphysema). The development of pulmonary necrosis, symptomatic bronchiectasis, pneumatocele, and bullous-fibrotic formations may result in pneumothorax, hemothorax or thoracic empyema in sporadic cases. An early thoracic surgical intervention to treat thoracic complications of COVID-19 pneumonia can improve the survival of COVID-19 patients.

Feasibility of implementation of the early tumor shrinkage as a potential predictive marker to daily clinical practice in patients with RAS wild type metastatic colorectal cancer, treated with cetuximab - a non-interventional observational study.

BACKGROUND: With the aim to show the feasibility of early tumor shrinkage (ETS) concept implementation into daily clinical practice in the Czech Republic, a non-interventional, multicentric, single arm, prospective study in real world set-up was performed. MATERIAL AND METHODS: The study objectives were to explore the time interval from the treatment starting date to the date of the first radiographic control (TFRC) and evaluate the proportion of patients who achieved ≥ 20% tumor regression within the first 8 weeks of first-line therapy, in the real-world settings. RESULTS: The medians of TFRC in all individual participating centers were > 12 weeks (range 14.0-36.4 weeks). TFRC ≤ 8 weeks was reported for only 3% of patients in the cohort with first-line therapy, and there were only 3 patients (1%) who achieved tumor regression of ≥ 20% by day 60 (8.6 weeks). CONCLUSION: These findings indicate that the basic time parameter of ETS could not realistically be employed in routine oncology care of patients with metastatic colorectal cancer (mCRC) in the Czech Republic, unless there would be a strict request to perform TRFC by week 8 since the initiation of the therapy. In addition, the frequency of objective tumor response to first-line therapy with cetuximab + chemotherapy was evaluated. Based on the relative regression in the sum of diameters of measurable metastatic lesions, unconfirmed partial responses were achieved in 42.4 % and unconfirmed complete response in 8.6% of patients, altogether corresponding to the overall response rate of 51% with first-line therapy. The frequency of responses was higher among patients with left than right sided primary tumors. It seems that the regimen of cetuximab/FOLFOX might be more active in frontline therapy of right sided RAS wild type mCRC than cetuximab/FOLFIRI.

Tebentafusp in the treatment of metastatic uveal melanoma - the first patient treated in the Czech Republic.

BACKGROUND: Uveal melanoma is a rare cancer, in which metastases occur in approximately one half of cases. In metastatic disease, the prognosis is unfavorable and the median of survival does not exceed 6 months. Effective treatment options were very limited up to date. Tebentafusp is a bispecific fusion protein, which as the first drug proved efficacy in uveal melanoma. CASE: The patient was referred for suspected uveal melanoma of the left eye. She was treated for Hodgkin's disease in the past. Primarily, the tumor was treated by radiosurgery with radiotherapy of a small lesion of the vertebral body. However, later the patient had to undergo bulbus enucleation with confirmation of a large tumor category pT4b. PET/CT revealed metastases of the bones and the liver; simultaneously, haplotype A*02: 01 was confirmed. The patient underwent radiotherapy of the sternum and later, after confirmation of payment from the health insurance company, she started treatment with tebentafusp. The first three doses were administered during admission to the hospital, with a need to treat cytokine release syndrome by corticosteroids. Later, the administration was performed in an out-patient regimen, without complications, except for a transient elevation of transaminases. The first CT restaging confirmed stable disease; however, the second restaging confirmed a new osteolytic lesion in the processus of Th11. Because of progression, the treatment with tebentafusp was withdrawn after 6 months. Unfortunately, the lesion could not be treated by radiotherapy. Two months later, the patient was urgently admitted to the hospital because of right-sided hemiplegia; MRI revealed bleeding metastatic lesion in the brain stem. CONCLUSION: In this case report, we present the case of the first patient treated with this drug in the Czech Republic.

Issues of risky behaviours in university students.

AIM: Risk behaviour is typical of adolescence and young adulthood, but the consequences can persist for the rest of life - in all domains - physical, psychological, and social. Challenging situations, stress, as well as feelings of a lack of stimulation in an individual's life are considered to be triggers for risky behaviours. Prevention therefore plays a crucial role. The aim of the study was to analyse the current situation in addictive and risky sexual behaviours in a group of university students. MATERIAL AND METHODS: Between 2019 and 2022, students of universities in East Bohemia - University of Hradec Králové (UHK), Charles University (UK), University of Defence (UNOB), and University of Pardubice (UPCE) - were approached and asked to complete a questionnaire survey focused on addictive and risky sexual behaviours. Based on the search strategy, research hypotheses were constructed, which were subsequently developed into interview questions. The research hypotheses were tested using Pearson's test. The questionnaire return rate was 84%. After eliminating invalid responses, 157 participants were included in the survey - 64% female, 36% male, age range 19-32 years. RESULTS: In the area of addictive behaviours, the focus was on substance and non-substance addictions. In terms of addictive substances, a question addressed cigarette smoking, which was reported by 14.6% of the survey participants. This is 50% less than what we see in the general population of the same age (by general population we mean the group of people approached for the surveys conducted, chosen by stratified random sampling based on age). In contrast, significantly higher rates of university students reported the use of illicit substances - marijuana, sedatives/tranquilizers without a doctor's prescription, cocaine, or hallucinogens compared to the age-matched general population. In the area of risky sexual behaviours, a question was included       about sexual intercourse with casual acquaintances. It was experienced by one in four respondents. In 83.3%, this behaviour was influenced by the use of an addictive substance. The survey pointed to the high rates of salutoprotective factors (e.g. interest in sports was reported by 87.9% of respondents). Perceived social support from friends (reported by 74.5% of respondents) or family (reported by 72.6% of respondents) is a preventive factor for risky behaviours. CONCLUSIONS: The aim of the survey was to determine the prevalence of high-risk addictive and sexual behaviours among university students and possible prevention measures. Salutoprotective factors during increased stress or awareness of social support seem to be of benefit. We assumed a protective effect of higher education, but this survey did not show it. On the contrary, the stress induced by university studies and the pressure on academic performance appeared to be a risk factor. The results of the survey provide insights into new approaches to the prevention to improve its effectiveness and point to major problems to be addressed in Czech university students.

Lentzea sokolovensis sp. nov., Lentzea kristufekii sp. nov. and Lentzea miocenica sp. nov., rare actinobacteria from Miocene lacustrine sediment of the Sokolov Coal Basin, Czech Republic.

The taxonomic position of three actinobacterial strains, BCCO 10_0061T, BCCO 10_0798T, and BCCO 10_0856T, recovered from bare soil in the Sokolov Coal Basin, Czech Republic, was established using a polyphasic approach. The multilocus sequence analysis based on 100 single-copy genes positioned BCCO 10_0061T in the same cluster as Lentzea waywayandensis, strain BCCO 10_0798T in the same cluster as Lentzea flaviverrucosa, Lentzea californiensis, Lentzea violacea, and Lentzea albidocapillata, and strain BCCO 10_0856T clustered together with Lentzea kentuckyensis and Lentzea alba. Morphological and chemotaxonomic characteristics of these strains support their assignment to the genus Lentzea. In all three strains, MK-9(H4) accounted for more than 80 % of the isoprenoid quinone. The diagnostic diamino acid in the cell-wall peptidoglycan was meso-diaminopimelic acid. The whole-cell sugars were rhamnose, ribose, mannose, glucose, and galactose. The major fatty acids (>10 %) were iso-C15 : 0, anteiso-C15 : 0, iso-C16 : 0, and C16 : 0. The polar lipids were diphosphatidylglycerol, methyl-phosphatidylethanolamine, phosphatidylethanolamine, hydroxy-phosphatidylethanolamine, phosphatidylglycerol, and phosphatidylinositol. The genomic DNA G+C content of strains (mol%) was 68.8 for BCCO 10_0061T, 69.2 for BCCO 10_0798T, and 68.5 for BCCO 10_0856T. The combination of digital DNA-DNA hybridization results, average nucleotide identity values and phenotypic characteristics of BCCO 10_0061T, BCCO 10_0798T, and BCCO 10_0856T distinguishes them from their closely related strains. Bioinformatic analysis of the genome sequences of the strains revealed several biosynthetic gene clusters (BGCs) with identities >50 % to already known clusters, including BGCs for geosmin, coelichelin, ε-poly-l-lysine, and erythromycin-like BGCs. Most of the identified BGCs showed low similarity to known BGCs (<50 %) suggesting their genetic potential for the biosynthesis of novel secondary metabolites. Based on the above results, each strain represents a novel species of the genus Lentzea, for which we propose the name Lentzea sokolovensis sp. nov. for BCCO 10_0061T (=DSM 116175T), Lentzea kristufekii sp. nov. for BCCO 10_0798T (=DSM 116176T), and Lentzea miocenica sp. nov. for BCCO 10_0856T (=DSM 116177T).

Potential to grow carp oedema virus (genogroup I) in monolayers of carp-derived primary cells with further implication in cell analysis.

Carp oedema virus (CEV) has distinct molecularly identified genogroups of viral mutations, denoted as I, IIa, and IIb. Failure to propagate CEV in vitro limits studies towards understanding its interactions with host cells. Here, virus isolates belonging to genogroup I collected during natural outbreaks in the Czech Republic were employed for routine CEV cultivation in monolayers of carp-derived primary cells, common carp brain (CCB) cells, and epithelioma papulosum cyprinid (EPC) cells. Induction of cytopathic effects (CPEs) was observed and recorded in affected cells. Cell survival rate was evaluated under serial dilutions of the CEV inoculum. Virus cell entry was quantified and visualized by qPCR and transmission electron microscopy, respectively. Study findings indicate primary gills epithelia likely present the most suitable matrix for CEV growth in vitro. Cells of the head kidney and spleen facilitate virus entry with microscopically confirmed CPEs and the presence of cytoplasmic pleomorphic virus particles. Cells of the trunk kidney and gonads are unlikely to permit virus cell entry and CPEs development. Although CEV cultivation in cell lines was inconclusive, EPC cells were CEV permissible. Monolayers of carp-derived primary cells show promise for CEV cultivation that could enable elaborate study of mechanisms underlying cellular binding and responses.

Efficacy and Safety of Stereotactic Radiotherapy in Patients With Recurrent Ventricular Tachycardias: The Czech Experience.

BACKGROUND: Stereotactic arrhythmia radiotherapy (STAR) has been proposed recently in patients with refractory ventricular tachycardia (VT). OBJECTIVES: The purpose of this study was to describe the efficacy and safety of STAR in the Czech Republic. METHODS: VT patients were recruited in 2 expert centers after at least 1 previously failed catheter ablation (CA). A precise strategy of target volume determination and CA was used in 17 patients treated from December 2018 until June 2022 (EFFICACY cohort). This group, together with an earlier series of 19 patients with less-defined treatment strategies, composed the SAFETY cohort (n = 36). A dose of 25 Gy was delivered. RESULTS: In the EFFICACY cohort, the burden of implantable cardioverter-defibrillator therapies decreased, and this drop reached significance for direct current shocks (1.9 ± 3.2 vs 0.1 ± 0.2 per month; P = 0.03). Eight patients (47%) underwent repeated CA for recurrences of VT during 13.7 ± 11.6 months. In the SAFETY cohort (32 procedures, follow-up >6 months), 8 patients (25%) presented with a progression of mitral valve regurgitation, and 3 (9%) required intervention (median follow-up of 33.5 months). Two cases of esophagitis (6%) were seen with 1 death caused by the esophago-pericardial fistula (3%). A total of 18 patients (50%) died during the median follow-up of 26.9 months. CONCLUSIONS: Although STAR may not be very effective in preventing VT recurrences after failed CA in an expert center, it can still modify the arrhythmogenic substrate, and when used with additional CA, reduce the number of implantable cardioverter-defibrillator shocks. Potentially serious sides effects require close follow-up.

LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.

BACKGROUND: Large deletions and duplications within the low-density lipoprotein receptor (LDLR) gene make up approximately 10% of LDLR pathogenic variants found in Czech patients with familial hypercholesterolemia. The goal of this study was to test the hypothesis that all probands with each rearrangement share identical breakpoints inherited from a common ancestor and to determine the role of Alu repetitive elements in the generation of these rearrangements. METHODS: The breakpoint sequence was determined by PCR amplification and Sanger sequencing. To confirm the breakpoint position, an NGS analysis was performed. Haplotype analysis of common LDLR variants was performed using PCR and Sanger sequencing. RESULTS: The breakpoints of 8 rearrangements within the LDLR gene were analysed, including the four most common LDLR rearrangements in the Czech population (number of probands ranging from 8 to 28), and four less common rearrangements (1-4 probands). Probands with a specific rearrangement shared identical breakpoint positions and haplotypes associated with the rearrangement, suggesting a shared origin from a common ancestor. All breakpoints except for one were located inside an Alu element. In 6 out of 8 breakpoints, there was high homology (≥ 70%) between the two Alu repeats in which the break occurred. CONCLUSIONS: The most common rearrangements of the LDLR gene in the Czech population likely arose from one mutational event. Alu elements likely played a role in the generation of the majority of rearrangements inside the LDLR gene.

Refractive Errors Among Members of the Armed Forces of the Czech Republic.

Objective: To evaluate the prevalence of refractive errors among members of the Armed Forces of the Czech Republic, to recommend a safe way of correcting refractive errors with regard to the specific needs of military personnel (especially members of combat units and flying personnel), and to propose a system for solving these errors in order to increase combat effectivity. Methodology: Questionnaire to determine previous refractive surgery and spectacle correction wear. Measurement of refraction with a hand-held autorefractometer and evaluation of current visual acuity on ETDRS optotypes (Landolt rings). Results: 259 servicemen (518 eyes) were investigated. The return rate of the questionnaires was 100%. The incidence of myopia greater than -0.75D was 22% (113 eyes), myopia greater than -0.5D 32% (166 eyes). The mean value of myopia was -0.78 D (SD ±0.6). Hypermetropia values ranged from +0.25 to +5.0 D. The mean value of hypermetropia was 0.63 D (SD ±0.7). Astigmatism values ranged from -0.25 to -3.75. The mean value of astigmatism was -0.55 Dcyl (SD ±0.49). The average visual acuity was 84.1 letters ETDRS SD (±6.1), visual acuity worse than 80 letters was manifested by 23% of the members of the monitored group. 25 people (10%) had undergone laser refractive surgery. Visual acuity after laser refractive surgery was measured in 19 people (38 eyes). Mean uncorrected post-laser visual acuity was 83.87 (SD ±6.1) ETDRS letters. The mean follow-up period after laser refractive surgery was 6.78 (SD ±4.8) years. Conclusion: Despite the initial selection of military personnel and entry limitations, the prevalence of refractive errors is comparable to the general population. However, in contrast with the general population, refractive errors larger than -3.0 D were not represented in the group. Due to the finding of insufficient correction of refractive errors, increased emphasis should be placed on identifying and regularly observing military personnel with refractive errors

Direct mailing of HPV self-sampling kits to women aged 50-65 non-participating in cervical screening in the Czech Republic.

BACKGROUND: A population-based cervical cancer screening programme is implemented in the Czech Republic. However, participation is insufficient among women over 50 years. This study aimed to estimate the potential improvement in participation through directly mailed HPV self-sampling kits (HPVssk) compared with standard invitation letters in women aged 50-65 non-participating in screening. METHODS: The study recruited 1564 eligible women (no cervical cancer screening in the last 3 years or more, no previous treatment associated with cervical lesions or cervical cancer). Eight hundred women were mailed with an HPVssk (HPVssk group), and 764 women were sent a standard invitation letter (control group) inviting them to a routine screening (Pap test). The primary outcome was a comparison of the overall participation rate between study groups using a binominal regression model. RESULTS: The participation rate in the HPVssk group was 13.4% [95% confidence interval (CI) 11.2-15.9%; 7.4% of women returned the HPVssk and 6.0% attended gynaecological examination] and 5.0% (95% CI 3.6-6.8%) in the control group. Using the binominal regression model, the difference between the groups was estimated as 7.6% (95% CI 5.0-10.2%; P < 0.001). In the HPVssk group, 22% of women who returned HPVssk had a positive result and 70% of them underwent a follow-up examination. CONCLUSIONS: Compared with traditional invitation letters, the direct mailing of the HPVssk achieved a significantly higher participation rate, along with a notable HPV positivity rate among HPVssk responders. This approach offers a potentially viable method for engaging women who have not yet attended a cervical screening programme.

The explanation of educational disparities in adiposity by lifestyle, socioeconomic and mental health mediators: a multiple mediation model.

BACKGROUND: The inverse association between education and obesity was previously found in numerous studies. This study aims to assess several possible mediators in the educational disparities in adiposity. We hypothesize the potential mediating role of lifestyle, socioeconomic, and mental health factors in the association between education and adiposity. METHODS: Cross-sectional population-based sample from Czechia included 2,154 25-64 years old subjects (54.6% women). Education was classified as high, middle, and low. Adiposity was assessed as a latent variable based on body fat percentage, BMI, waist circumference, and visceral fat. The mediation potential of unhealthy dietary behavior, alcohol intake, smoking, sedentary behaviors, income, stress, depression, and quality of life was assessed in age-adjusted sex-specific multiple mediation models. RESULTS: The negative direct effect of education on adiposity was statistically significant at 5% level of significance in both sexes. For men, the indirect effect was statistically significant via sedentary behavior (ß = 0.041; 95% CI [0.025-0.062]) with a mediation ratio of 23.7%. In women, the indirect effect was statistically significant via dietary risk (ß = -0.023, 95% CI [-0.037, -0.013]), alcohol intake (ß = -0.006; 95% CI [-0.014, -0.001]), sedentary behavior (ß = 0.012, 95% CI [0.004,0.023]), income (ß = -0.022; 95% CI [-0.041, -0.004]), and mental health (ß = -0.007; 95% CI [-0.019, -0.001]). The total mediation ratio in women was 30.5%. CONCLUSIONS: Sedentary behaviors had mediating role in the association between education and adiposity in both sexes, with more important role in men. In addition, unhealthy diet and lower income partially mediated the educational gradient in adiposity in women.

Speech intelligibility and its relation to auditory temporal processing in Czech and Swiss German subjects with and without tinnitus.

PURPOSE: Previous studies have shown that levels for 50% speech intelligibility in quiet and in noise differ for different languages. Here, we aimed to find out whether these differences may relate to different auditory processing of temporal sound features in different languages, and to determine the influence of tinnitus on speech comprehension in different languages. METHODS: We measured speech intelligibility under various conditions (words in quiet, sentences in babble noise, interrupted sentences) along with tone detection thresholds in quiet [PTA] and in noise [PTAnoise], gap detection thresholds [GDT], and detection thresholds for frequency modulation [FMT], and compared them between Czech and Swiss subjects matched in mean age and PTA. RESULTS: The Swiss subjects exhibited higher speech reception thresholds in quiet, higher threshold speech-to-noise ratio, and shallower slope of performance-intensity function for the words in quiet. Importantly, the intelligibility of temporally gated speech was similar in the Czech and Swiss subjects. The PTAnoise, GDT, and FMT were similar in the two groups. The Czech subjects exhibited correlations of the speech tests with GDT and FMT, which was not the case in the Swiss group. Qualitatively, the results of comparisons between the Swiss and Czech populations were not influenced by presence of subjective tinnitus. CONCLUSION: The results support the notion of language-specific differences in speech comprehension which persists also in tinnitus subjects, and indicates different associations with the elementary measures of auditory temporal processing.

Palliative Care in the Ageing European Population: A Cross-Country Comparison.

With Europe's ageing population and rising demand for palliative care, it is crucial to examine the use of palliative care among older adults during their last years of life and understand the factors influencing their access and end-of-life circumstances. This study employed a cohort of SHARE participants aged 65 years or older who had passed away between Wave 6 (2015) and Wave 7 (2017). Information on death circumstances, palliative care utilization, and associated variables were analysed. The study revealed that nearly 13.0% of individuals across these countries died under palliative care, with Slovenia having the lowest rate (0.3%) and France the highest (30.4%). Palliative care utilization in the last 30 days before death was observed in over 24.0% of participants, with the Czech Republic having the lowest rate (5.0%) and Greece the highest (48.8%). A higher risk of using or dying in palliative care was significantly associated with cognitive impairment (low verbal fluency), physical inactivity, and good to excellent self-perceived health. This work highlights the urgent need for enhanced global access to palliative care and advocates for the cross-country comparison of effective practices within Europe, tailored to the unique healthcare needs of older adults.

Effectiveness of tixagevimab/cilgavimab in patients with hematological malignancies as a pre-exposure prophylaxis to prevent severe COVID-19: a Czech retrospective multicenter study.

Despite lower virulence, the omicron variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that causes coronavirus disease 2019 (COVID-19) still poses a relevant threat for immunocompromised patients. A retrospective multicentric study was conducted to evaluate the efficacy of pre-exposure prophylaxis with tixagevimab/cilgavimab (Evusheld) with a 6-month follow-up for preventing severe COVID-19 in adult patients with hematology malignancy. Among the 606 patients in the cohort, 96 (16%) contracted COVID-19 with a median of 98.5 days after Evusheld administration. A total of 75% of patients had asymptomatic or mild severity of COVID-19, while just 25% of patients with SARS-CoV-2 positivity had to be hospitalized. Two patients (2%) died directly, and one patient (1%) in association with COVID-19. Eight patients (1.3%) of every cohort experienced adverse events related to Evusheld, mostly grade 1 and of reversible character. It was found that complete vaccination status or positive seroconversion was not associated with lower risk of COVID-19 infection. Previous treatment with an anti-CD20 monoclonal antibody was associated with higher rates of COVID-19, while previous treatment with anti-CD38 monoclonal antibody was not, as was the case for recipients of hematopoietic stem cell transplantation or CAR-T cell therapy. Presence of other comorbidities was not associated with more severe COVID-19. The results support the growing evidence for Evusheld's efficacy against severe COVID-19 in patients with hematology malignancies.

Clinical Features, Outcomes, and Response to Corticosteroid Treatment of Acute Tubulointerstitial Nephritis: A Single-Centre Retrospective Cohort Study in the Czech Republic.

INTRODUCTION: Acute tubulointerstitial nephritis (ATIN) is a well-recognized cause of acute kidney injury (AKI) due to the tubulointerstitial inflammation. The aim of this study was to explore the clinical features, outcomes, and responses to corticosteroid treatment in patients with ATIN. METHODS: Patients with biopsy-proven ATIN, who were diagnosed between 1994 and 2016 at the Department of Nephrology, Charles University, First Faculty of Medicine, and General University Hospital in Prague, were included in the study. Patient demographics, the aetiological and clinical features, the treatment given, and the outcome at 1 year of follow-up were extracted from patient records. RESULTS: A total of 103 ATIN patients were analysed, of which 68 had been treated with corticosteroids. There was no significant difference in the median serum creatinine 280 (169-569) µmol/L in the conservatively managed group versus 374 (249-558) µmol/L in the corticosteroid-treated group, p = 0.18, and dependence on dialysis treatment at baseline at the time of biopsy (10.3 vs. 8.6%). During the 1 year of follow-up, those ATIN patients who had been treated with corticosteroids did better and showed greater improvement in kidney function, determined as serum creatinine difference from baseline and from 1 month over 1-year period (p = 0.001). CONCLUSIONS: This single-centre retrospective cohort study supports the beneficial role of the administration of corticosteroid therapy in the management of ATIN.

High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.

Introduction: Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D (SDHD) is the most commonly mutated in familial HNPGLs. In about 30% of HNPGLs, germline mutations in SDHD can also occur in the absence of positive family history, thus giving rise to "occult familial" cases. Our aim was to evaluate the pattern of SDHD germline mutations in Czech patients with HNPGLs. Materials and methods: We analyzed a total of 105 patients with HNPGLs from the Otorhinolaryngology departments of 2 tertiary centers between 2006 - 2021. All underwent complex diagnostic work-up and were also consented for genetic analysis. Results: Eighty patients aged 13-76 years were included; around 60% with multiple PGLs were males. Carotid body tumor was the most frequently diagnosed tumor. Germline SDHD mutation was found in only 12% of the Czech patients; approximately 78% of those harboring the mutation had negative family history. The mutation traits had higher affiliation for multiple tumors with nearly 70% patients of ≤ 40 years of age. Conclusion: An SDHD mutation variant was shared amongst unrelated patients but no founder-effect was established. Our findings confirmed that the pattern of SDHD mutation distribution amongst HNPGLs in Czech Republic differs from most studies worldwide.

Loneliness Is Associated With Problematic Internet Use but Not With the Frequency of Substance Use: A Czech Cross-Sectional Study.

Objectives: This study aimed to assess the associations between loneliness and the frequency of substance use and problematic Internet use (PIU) in different age groups. Methods: Data were collected in April 2021 from a sample of 1,293 participants with main characteristics close to a nationally representative sample (mean age = 50.1 ± 15.4 years; 56% male). We measured loneliness with the Three-Item Loneliness Scale (TILS), PIU with the General Problematic Internet Use Scale-2 (GPIUS-2) and the frequency of drugs, alcohol, smoking or caffeine consumption. Spearman's correlation, the t-test, and one-way and multivariate linear regression models were used to analyze the data. Results: In our study, 43.8% of respondents reported moderate to severe levels of loneliness. Loneliness was associated with the severity of PIU [F (3, 1,277) = 15.25, p < 0.001], with higher loneliness corresponding to higher PIU. No significant relationship was found between loneliness and drugs, alcohol, smoking or caffeine consumption. Conclusion: Regardless of age, loneliness is associated with PIU but not with the frequency of substance use. Professional help for lonely people should focus on problematic Internet use in all age groups.

Frequency of Epidermal Growth Factor Receptor Gene Variant in Roma Population.

Aims: The pathogenic variant, p.GLY428Asp (c.1283G-A), in the epidermal growth factor receptor (EGFR) gene causes neonatal inflammatory skin and bowel disease 2, a disorder that is lethal during infancy due to skin infections and sepsis. This variant seems to be restricted to people of Roma origin with the majority of patients thus far reported being from Slovakia or the Czech Republic. The aim of this study was to establish the frequency of this variant in the Roma population in Slovakia. Methods: A population sample of 1321 unrelated healthy individuals of Roma origin from Slovakia was tested for the p.GLY428Asp variant in EGFR gene by real-time PCR. Results: The carrier frequency in the Roma ethnic group was 2.65%. Conclusions: This is the first report of the frequency of this variant. A high frequency of carriers together with a significant number of patients reported previously proves the p.GLY428Asp variant in the EGFR gene is a major health concern of the Roma populations in Slovakia and neighboring regions.