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Jan Sojak,1 Peter Durdik,2 Eva Omar Mohamedova,3 Marian Grendar,4 Miroslava Lucanska,5 Martin Jozef Pec,6 Milos Tatar,7 Renata Pecova7 1Clinic of Otorhinolaryngology and Head and Neck Surgery, Faculty of Medicine, Slovak Medical University in Bratislava, Central Military Hospital in Ruzomberok, Ruzomberok, Slovak Republic; 2Clinic of Children and Adolescent, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, University Hospital Martin, Martin, Slovak Republic; 3Outpatient Department of Clinical Immunology and Allergology in Ruzomberok, Ruzomberok, Slovak Republic; 4Biomedical Center, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovak Republic; 5Clinic of Otorhinolaryngology and Head and Neck Surgery, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, University Hospital Martin, Martin, Slovak Republic; 6Clinic of Internal Medicine I, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, University Hospital Martin, Martin, Slovak Republic; 7Department of Pathological Physiology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovak RepublicCorrespondence: Renata Pecova, Department of Pathological Physiology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Malá Hora 4C, Martin, 036 01, Slovak Republic, Tel +421 43 2633 622, Email renata.pecova@uniba.skPurpose: The co-occurrence of adenoids and chronic cough is common in children. The goal of this research was to specify changes in cough reflex sensitivity as a result of adenoid tissue removal.Patients and Methods: The sample group consisted of 17 children (six boys and 11 girls, aged 4– 12 years, mean age 6.24 years), all of them possessing symptoms of chronic cough and adenoids, confirmed by nasal fiberoptic endoscopy. This sample group underwent cough reflex sensitivity assessment, which took place both prior to and after endoscopic adenoidectomy. The definition of the cough reflex sensitivity is the lowest capsaicin concentration that caused two (C2) or five (C5) coughs. Capsaicin aerosol in ascending concentrations (from 0.61 to 1250 μmol/L) was inhaled by a single-breath method (KoKo DigiDoser), with the addition of an inspiratory flow regulator valve (RIFR).Results: Concentrations of capsaicin causing two (C2) and five coughs (C5) were reported. Cough sensitivity (geometric mean with 95% CI) for C2 was 31.86 (12.98– 78.18) μmol/L preoperatively and 11.97 (6.16– 23.26) μmol/L postoperatively (P=0.064). Cough sensitivity for C5 was 234.91 (97.19– 567.77) μmol/L preoperatively and 69.13 (29.08– 164.35) μmol/L postoperatively (P=0.022). The children’s pulmonary function was within the normal range.Conclusion: In our study, adenoidectomy significantly increased cough reflex sensitivity in non-atopic children suffering from chronic cough.Keywords: adenoids, adenoidectomy, cough, cough reflex sensitivity, chronic cough, children

Human exposure to radiofrequency electromagnetic fields (RF-EMF) is restricted to prevent thermal effects in the tissue. However, at very low intensity exposure ''non-thermal'' biological effects, like oxidative stress, DNA or chromosomal aberrations, etc. collectively termed genomic-instability can occur after few hours. Little is known about chronic (years long) exposure with non-thermal RF-EMF.We identified two neighboring housing estates in a rural region with residents exposed to either relatively low (control-group) or relatively high (exposed-group) RF-EMF emitted from nearby mobile phone base stations (MPBS). 24 healthy adults that lived in their homes at least for 5 years volunteered. The homes were surveyed for common types of EMF, blood samples were tested for oxidative status, transient DNA alterations, permanent chromosomal damage, and specific cancer related genetic markers, like MLL gene rearrangements. We documented possible confounders, like age, sex, nutrition, life-exposure to ionizing radiation (X-rays), occupational exposures, etc.The groups matched well, age, sex, lifestyle and occupational risk factors were similar. The years long exposure had no measurable effect on MLL gene rearrangements and c-Abl-gene transcription modification. Associated with higher exposure, we found higher levels of lipid oxidation and oxidative DNA-lesions, though not statistically significant. DNA double strand breaks, micronuclei, ring chromosomes, and acentric chromosomes were not significantly different between the groups. Chromosomal aberrations like dicentric chromosomes (p=0.007), chromatid gaps (p=0.019), chromosomal fragments (p

Despite rapid advances in colorectal surgery, morbidity and mortality rates in elective gastrointestinal surgery play a significant role. For decades, there have been tempestuous discussions on preventative measures to minimize the risk of anastomotic dehiscence. When mechanical bowel preparation before an elective procedure, one of the key hypotheses, was introduced into practice, it was assumed that it would decrease the number of infectious complications and anastomotic dehiscence. The advancements in antibiotic treatment supported the concomitant administration of oral antibiotics and mechanical bowel preparation. In the prospective study conducted at our clinic, we performed left-side colorectal procedures without prior mechanical preparation. All patients enrolled in the study underwent the surgery and were observed in the 3rd Surgical Clinic, Faculty of Medicine, Comenius University in Bratislava, Slovakia, from January 2019 to January 2020. As a control group, we used a similar group of patients with MBP. Our observed group included 87 patients with tumors in the left part of their large intestine (lineal flexure, descendent colon, sigmoid colon, and rectum). Dixon laparoscopic resection was performed in 26 patients. Sigmoid laparoscopic resection was performed in 27 patients. In 12 patients, the procedure was started laparoscopically but had to be converted due to adverse anatomical conditions. The conservative approaches mostly included Dixon resections (19 patients), sigmoid colon resections (5 patients), left-side hemicolectomies (6 patients), and Miles’ tumor resections, with rectal amputation (4 patients). Our study highlighted the fact that MBP does not have an unequivocal benefit for patients with colorectal infection, which has an impact on the development of anastomotic dehiscence.

Abstract Interventional radiologists are chronically exposed to low-dose ionizing radiation (IR), which may represent a health risk. The aim of the present study was to evaluate genomic instability by analyzing chromosomal aberrations, micronuclei, and 53BP1 DNA repair foci in peripheral blood lymphocytes of radiologists. Based on the IAEA guidelines on biodosimetry using dicentrics, the average protracted whole-body dose in radiologists were estimated. Since preleukemic fusion genes (PFG) are the primary events leading to leukemia, we also studied their presence by RT-qPCR and FISH. No significant difference in 53BP1 foci and incidence of PFG (MLL-AF4, MLL-AF9, AML1-ETO, BCR-ABL p190) was found in cells of interventional radiologists in comparison to controls. However, our results showed an increased frequency of micronuclei and various types of chromosomal aberrations including dicentrics in interventional radiologists. The average protracted whole body estimated dose was defined at 452.63 mGy. We also found a significantly higher amplification of the MLL gene segment and increased RNA expression in cells of interventional radiologists in comparison to controls. In conclusion, our results showed that long-term low-dose IR induces genomic instability in interventional radiologists.

Aims. This study aimed to evaluate the effect of preoperative administration of oral nutritional supplements (ONS) on the self-sufficiency, physical status, and nutritional status of patients undergoing elective colorectal resections. Methods. This prospective randomized clinical trial was conducted in a single institution. Patients scheduled to undergo colorectal cancer surgery were randomized to either ONS twice per day for 7 days before surgery or no ONS. Results. We enrolled 120 patients in the study. The two study groups had comparable hospital stay times and comparable numbers of postoperative complications. Laboratory parameter (albumin and prealbumin) values declined in the postoperative period, but differences between study groups were not significant. The groups had comparable arm circumference measurements, muscle mass and fat proportions, and water weights. Patient self-sufficiency in the postoperative period was comparable between groups (P=0.313). Lower limb force declined after surgery, but differences between the groups were not significant (P=0.579). Conclusion. Preoperative administration of ONS to patients undergoing elective colorectal surgery did not reduce postoperative morbidity or enhance recovery. Moreover, patient self-sufficiency, physical status, and nutritional status were not influenced by preoperative ONS. Patients should be properly selected for malnourishment before providing nutritional support to manage costs efficiently. Trial Registration: ClinicalTrials.gov (NCT03930888).

BackgroundThe mutations in the RPGR (retinitis pigmentosa GTPase regulator) gene are the most common cause of X-linked retinitis pigmentosa (XLRP), a rare genetic disorder affecting the photoreceptor cells in the retina. Several reported cases identified this gene as a genetic link between retinitis pigmentosa (RP) and primary ciliary dyskinesia (PCD), characterised by impaired ciliary function predominantly in the respiratory tract. Since different mutations in the same gene can result in various clinical manifestations, it is important to describe a correlation between the gene variant and the observed phenotype.MethodsTwo young brothers from a non-consanguineous Slovak family with diagnosed retinal dystrophy and recurrent respiratory infections were examined. Suspected PCD was diagnosed based on a PICADAR questionnaire, nasal nitric oxide analysis, transmission electron microscopy, high-speed video microscopy analysis, and genetic testing.ResultsWe identified a novel frameshift RPGR mutation NM_001034853: c.309_310insA, p.Glu104Argfs*12, resulting in a complex X-linked phenotype combining PCD and RP. In our patients, this mutation was associated with normal ultrastructure of respiratory cilia, reduced ciliary epithelium, more aciliary respiratory epithelium, shorter cilia, and uncoordinated beating with a frequency at a lower limit of normal beating, explaining the clinical manifestation of PCD in our patients.ConclusionThe identified novel pathogenic mutation in the RPGR gene expands the spectrum of genetic variants associated with the X-linked PCD phenotype overlapping with RP, highlighting the diversity of mutations contributing to the disorder. The described genotype–phenotype correlation can be useful in clinical practice to recognise a broader spectrum of PCD phenotypes as well as for future research focused on the genetic basis of PCD, gene interactions, the pathways implicated in PCD pathogenesis, and the role of RPGR protein for the proper functioning of cilia in various tissues throughout the body.

About 5% of patients undergoing radiotherapy (RT) develop RT-related side effects. To assess individual radiosensitivity, we collected peripheral blood from breast cancer patients before, during and after the RT, and γH2AX/53BP1 foci, apoptosis, chromosomal aberrations (CAs) and micronuclei (MN) were analyzed and correlated with the healthy tissue side effects assessed by the RTOG/EORTC criteria. The results showed a significantly higher level of γH2AX/53BP1 foci before the RT in radiosensitive (RS) patients in comparison to normal responding patients (NOR). Analysis of apoptosis did not reveal any correlation with side effects. CA and MN assays displayed an increase in genomic instability during and after RT and a higher frequency of MN in the lymphocytes of RS patients. We also studied time kinetics of γH2AX/53BP1 foci and apoptosis after in vitro irradiation of lymphocytes. Higher levels of primary 53BP1 and co-localizing γH2AX/53BP1 foci were detected in cells from RS patients as compared to NOR patients, while no difference in the residual foci or apoptotic response was found. The data suggested impaired DNA damage response in cells from RS patients. We suggest γH2AX/53BP1 foci and MN as potential biomarkers of individual radiosensitivity, but they need to be evaluated with a larger cohort of patients for clinics.

Aims. This study aimed to evaluate the effect of preoperative administration of oral nutritional supplements (ONS) on the self-sufficiency, physical status, and nutritional status of patients undergoing elective colorectal resections. Methods. This prospective randomized clinical trial was conducted in a single institution. Patients scheduled to undergo colorectal cancer surgery were randomized to either ONS twice per day for 7 days before surgery or no ONS. Results. We enrolled 120 patients in the study. The two study groups had comparable hospital stay times and comparable numbers of postoperative complications. Laboratory parameter (albumin and prealbumin) values declined in the postoperative period, but differences between study groups were not significant. The groups had comparable arm circumference measurements, muscle mass and fat proportions, and water weights. Patient self-sufficiency in the postoperative period was comparable between groups (P=0.313). Lower limb force declined after surgery, but differences between the groups were not significant (P=0.579). Conclusion. Preoperative administration of ONS to patients undergoing elective colorectal surgery did not reduce postoperative morbidity or enhance recovery. Moreover, patient self-sufficiency, physical status, and nutritional status were not influenced by preoperative ONS. Patients should be properly selected for malnourishment before providing nutritional support to manage costs efficiently. [ABSTRACT FROM AUTHOR]

Human exposure to radiofrequency electromagnetic fields (RF-EMF) is restricted to prevent thermal effects in the tissue. However, at very low intensity exposure "non-thermal" biological effects, like oxidative stress, DNA or chromosomal aberrations, etc. collectively termed genomic-instability can occur after few hours. Little is known about chronic (years long) exposure with non-thermal RF-EMF. We identified two neighboring housing estates in a rural region with residents exposed to either relatively low (control-group) or relatively high (exposed-group) RF-EMF emitted from nearby mobile phone base stations (MPBS). 24 healthy adults that lived in their homes at least for 5 years volunteered. The homes were surveyed for common types of EMF, blood samples were tested for oxidative status, transient DNA alterations, permanent chromosomal damage, and specific cancer related genetic markers, like MLL gene rearrangements. We documented possible confounders, like age, sex, nutrition, life-exposure to ionizing radiation (X-rays), occupational exposures, etc. The groups matched well, age, sex, lifestyle and occupational risk factors were similar. The years long exposure had no measurable effect on MLL gene rearrangements and c-Abl-gene transcription modification. Associated with higher exposure, we found higher levels of lipid oxidation and oxidative DNA-lesions, though not statistically significant. DNA double strand breaks, micronuclei, ring chromosomes, and acentric chromosomes were not significantly different between the groups. Chromosomal aberrations like dicentric chromosomes (p=0.007), chromatid gaps (p=0.019), chromosomal fragments (p<0.001) and the total of chromosomal aberrations (p<0.001) were significantly higher in the exposed group. No potential confounder interfered with these findings. Increased rates of chromosomal aberrations as linked to excess exposure with ionizing radiation may also occur with non-ionizing radiation exposure. Biological endpoints can be informative for designing exposure limitation strategies. Further research is warranted to investigate the dose-effect-relationship between both, exposure intensity and exposure time, to account for endpoint accumulations after years of exposure. As established for ionizing radiation, chromosomal aberrations could contribute to the definition of protection thresholds, as their rate reflects exposure intensity and exposure time. [Display omitted] • Residents exposed to RF-EMR from base stations were tested for genetic instability. • The years long exposure had no measurable effect on specific cancer related genes. • We found high level of lipid peroxidation and DNA-lesions but not significant. • Chromosomal aberrations were significantly more pronounced in highly exposed group. [ABSTRACT FROM AUTHOR]

Background: Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes., Methods: Genetic variants and clinical findings (age, sex, body mass index, laterality defects, forced expiratory volume in 1 s (FEV 1 )) were collected from 19 countries using the European Reference Network's ERN-LUNG international PCD Registry. Genetic data were evaluated according to American College of Medical Genetics and Genomics guidelines. We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects and FEV 1 ., Results: The study included 1236 individuals carrying 908 distinct pathogenic DNA variants in 46 PCD genes. We found considerable variation in the distribution of PCD genotypes across countries due to the presence of distinct founder variants. The prevalence of PCD genotypes associated with pathognomonic ultrastructural defects (mean 72%, range 47-100%) and laterality defects (mean 42%, range 28-69%) varied widely among countries. The prevalence of laterality defects was significantly lower in PCD individuals without pathognomonic ciliary ultrastructure defects (18%). The PCD cohort had a reduced median FEV 1 z-score (-1.66). Median FEV 1 z-scores were significantly lower in CCNO (-3.26), CCDC39 (-2.49) and CCDC40 (-2.96) variant groups, while the FEV 1 z-score reductions were significantly milder in DNAH11 (-0.83) and ODAD1 (-0.85) variant groups compared to the whole PCD cohort., Conclusion: This unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of the genetic epidemiology of PCD and indicates that the genetic variant can predict diagnostic and phenotypic features such as the course of lung function., Competing Interests: Conflict of interest: The authors have no potential conflicts of interest to disclose., (Copyright ©The authors 2024.)

Bronchial asthma is a heterogeneous respiratory condition characterized by chronic airway inflammation, airway hyperresponsiveness and airway structural changes (known as remodeling). The clinical symptoms can be evoked by (non)specific triggers, and their intensity varies over time. In the past, treatment was mainly focusing on symptoms' alleviation; in contrast modern treatment strategies target the underlying inflammation, even during asymptomatic periods. Components of airway remodeling include epithelial cell shedding and dysfunction, goblet cell hyperplasia, subepithelial matrix protein deposition, fibrosis, neoangiogenesis, airway smooth muscle cell hypertrophy and hyperplasia. Among the other important, and frequently forgotten aspects of airway remodeling, also loss of epithelial barrier integrity, immune defects in anti-infectious defence and mucociliary clearance (MCC) dysfunction should be pointed out. Mucociliary clearance represents one of the most important defence airway mechanisms. Several studies in asthmatics demonstrated various dysfunctions in MCC - e.g., ciliated cells displaying intracellular disorientation, abnormal cilia and cytoplasmic blebs. Moreover, excessive mucus production and persistent cough are one of the well-recognized features of severe asthma and are also associated with defects in MCC. Damaged airway epithelium and impaired function of the ciliary cells leads to MCC dysfunction resulting in higher susceptibility to infection and inflammation. Therefore, new strategies aimed on restoring the remodeling changes and MCC dysfunction could present a new therapeutic approach for the management of asthma and other chronic respiratory diseases., Competing Interests: Declaration of competing interest No conflict of interest., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Background and Objective: Cryotherapy in interventional bronchoscopy is a new treatment modality, which has recently been made available for the paediatric airway. Lack of experience and safety concerns have led to hesitant adaptation. The aim of this study was to assess indications, success rates and complications of airway cryotherapy in children., Methods: Bronchoscopists from medical centre performing cryotherapy in patients between 0 and 18 years were invited to participate in a prospective study based on an online questionnaire. Patient and participant data were collected between June 2020 and June 2021., Results: A total of 69 cryotherapy procedures were performed in 57 patients a for three main indications: Biopsy (30), restoration of airway patency (23) and foreign body aspiration (16). The overall success rate was 93%, the remaining 7% were performed for foreign body removal and required a switch of technique. Restoration of airway patency was successfully applied in various pathologies, including mucus plugs, bronchial casts and post traumatic stenosis. The diagnostic yield of transbronchial biopsies was 96%. No severe complications were encountered; one pneumothorax following a cryobiopsy required a chest drain for 48 h. No child was admitted to intensive care or died from a procedural complication., Conclusion: In this largest paediatric case collection to date, cryotherapy was safe and carried a high success rate. Cryobiopsy compares favourably to the widely used forceps biopsy and could replace it in the future. Paediatric bronchoscopists are encouraged to add cryotherapy to their armamentarium of airway interventions., (© 2022 The Authors. Respirology published by John Wiley & Sons Australia, Ltd on behalf of Asian Pacific Society of Respirology.)