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 (FEV1)) 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 FEV1. 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 FEV1 z-score (-1.66). Median FEV1 z-scores were significantly lower in CCNO (-3.26), CCDC39 (-2.49) and CCDC40 (-2.96) variant groups, while the FEV1 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.

• MeSH
• axonemální dyneiny genetika   MeSH
• cytoskeletální proteiny MeSH
• dítě MeSH
• dospělí MeSH
• fenotyp * MeSH
• genetická variace MeSH
• genetické asociační studie * MeSH
• genotyp * MeSH
• Kartagenerův syndrom genetika   patofyziologie   MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutace MeSH
• předškolní dítě MeSH
• proteiny MeSH
• registrace MeSH
• senioři MeSH
• usilovný výdechový objem MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

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.

• MeSH
• bronchiální astma * farmakoterapie   MeSH
• hyperplazie MeSH
• lidé MeSH
• mukociliární clearance fyziologie   MeSH
• remodelace dýchacích cest * MeSH
• zánět MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• Publikační typ
• abstrakt z konference MeSH

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.

• MeSH
• bronchoskopie * škodlivé účinky   metody   MeSH
• bronchy MeSH
• cizí tělesa * etiologie   terapie   MeSH
• dítě MeSH
• kryoterapie škodlivé účinky   metody   MeSH
• lidé MeSH
• prospektivní studie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND: The reference values of young athletes for cardiopulmonary exercise testing are lacking. Expert opinions encourage production of local values specific for certain population. PATIENTS AND METHODS: The study population consisted of 136 healthy male caucasian athletic children and adolescents coming from one specific football school in northern Slovakia. Exercise testing with continuous electrocardiography was performed, and ventilatory parameters, oxygen uptake (VO2), and carbon dioxide (CO2) production were measured continuously with a respiratory gas analysis system. RESULTS: Peak VO2max/kg was changing very little across the childhood, whereas the peak work rate, heart rate and O2Pulse were. Linear regression analysis showed a significant effect of age on VE/VCO2. CONCLUSION: This work provides a reference values for the most important cardiopulmonary variables that can be obtained during cardiopulmonary exercise testing in athletic children.

• MeSH
• dítě MeSH
• elektrokardiografie MeSH
• kyslík metabolismus   MeSH
• lidé MeSH
• mladiství MeSH
• oxid uhličitý metabolismus   MeSH
• referenční hodnoty MeSH
• respirační funkční testy MeSH
• sportovci * MeSH
• zátěžový test * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika MeSH

Úvod: Riasinky (cílie) sú komplexné bunkové organely nachádzajúce sa na povrchu väčšiny buniek v tele. V respiračnom systéme sú dôležitou zložkou mukociliárneho transportu, ktorý zabezpečuje očisťovanie dýchacích ciest. Gastroezofágový reflux (GER) je v detskom veku veľmi často spojený so vznikom typickej extraezofágovej symptomatológie (rinitídy, sinusitídy, kašeľ, zahlienenie a iné), ktorá je často prejavom porušenej očisťovacej schopnosti dýchacích ciest. Cieľ práce: Hodnotenie kinematiky cílií respiračného epitelu horných dýchacích ciest u detských pacientov s gastroezofágovým refluxom. Metodika: Prospektívna štúdia bola realizovaná na Klinike detí a dorastu JLF UK a UNM od roku 2017 do roku 2019. Zaradení boli pediatrickí pacienti vo veku od 4 do 18 rokov s pozitívnym gastroezofágovým refluxom a s extraezofágovou symptomatológiou. U všetkých pacientov bola zrealizovaná 24-hodinová multikanálová intraluminálna impedancia s pH-metriou. Vzorka sliznice respiračného epitelu horných dýchacích ciest bola odobratá z dolnej lastúry nosa pred zahájením liečby a po 6 mesiacoch farmakologickej liečby. Vzorka bola spracovaná a vyhodnotená vysokorýchlostnou videomikroskopiou. 24-hodinová multikanálová intraluminálna impedancia s pH-metriou bola vyhodnotená manuálne. Kontrolnú skupinu na porovnanie frekvencie ciliárnej kinematiky tvorili zdraví jedinci. Výsledky: Zaradených bolo 40 pacientov s gastroezofágovou refluxnou chorobou (GERD). Prevalencia mužského pohlavia bola vyššia (55 %). Kinematika riasiniek u pacientov s GERD bola signifikantne nižšia než v kontrolnej skupine (4,43 Hz ± 2,2 Hz v.s. 6,86 Hz ± 0,96 Hz, p < 0,001). Po 6 mesiacoch medikamentóznej liečby refluxu došlo k signifikantnému vzostupu ciliárnej kinematiky (4,08 Hz ±1,7 Hz v.s. 5,39 Hz ± 0,69 Hz, n = 13). Záver: Na základe našich doterajších výsledkov možno konštatovať, že u pacientov s GERD dochádza k zníženiu kinematiky cílií respiračného epitelu v porovnaní s kontrolnou skupinou. Naše výsledky ukazujú, že adekvátnou terapiou GERD môžno zlepšiť kinematiku riasiniek v oblasti horných dýchacích ciest.

Introduction: Cilia are complex cellular organelles located on the surface of most cells in the body. They are an important component of mucocular transport, which provides cleansing of the airways. Gastroesophageal reflux disease (GER) is very often associated with typical extraesophageal symptomatology (rhinitis, sinusitis, cough, wheezing, etc.) in childhood, which is often a manifestation of impaired mucoliary clearance of the airways. Objective: Influence gastroesophageal reflux of the ciliary kinematics. Methodology: Prospective study from 2017–2019 realised at the Department of Children and Adolescents of University Hospital in Martin, pediatric patients aged 4 to 18 years were included, with suspected suspicion of gastroesophageal or extraesophageal reflux with extraesophageal symptomatology. All patients underwent a 24-hour multichannel intraluminal impedance with pH-metry and a sample of the upper airway respiratory epithelial mucosa was taken from the concha nasalis inferior. The sample was seen under a light microscope, short videos were recorded, and the frequency of cilia oscillations was evaluated using special software. Evaluated 24-hour MII with pH-metrics manually, results compared with ciliary frequency measurements in patients with GERD. The control group for comparing the frequency of ciliary kinematics consisted of healthy individuals. Results: 40 patients with GERD were enrolled. Male prevalence was higher (55%). The ciliary kinematics in patients with GERD was significantly lower than in the control group (4.43 Hz±2.2 Hz vs. 6.86 Hz±0.96 Hz, p<0.001). In 6 patients, a control sample of cilia was performed after 6 months, where there was a significant increase in ciliary kinematics on GERD treatment (4.08 Hz±1.7 Hz vs. 5.39 Hz±0.69 Hz). Conclusion: Based on our results to date, it can be stated that in patients with GERD/EER there is a decrease in ciliary kinematics compared to the control group. We consider the low number of individuals to be a limitation.

• Klíčová slova
• sekundární cíliopatie,
• MeSH
• dítě MeSH
• gastroezofageální reflux * diagnóza   patologie   terapie   MeSH
• lidé MeSH
• mladiství MeSH
• nemoci dýchací soustavy etiologie   patologie   MeSH
• poruchy ciliární motility * diagnostické zobrazování   patologie   MeSH
• předškolní dítě MeSH
• prospektivní studie MeSH
• stanovení žaludeční acidity MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH

Narkolepsia je chronické neurologické ochorenie charakterizované poruchou regulácie spánkového cyklu. V rámci klasifikácie spánkových porúch sa zaraďuje medzi hypersomnie. Výskyt ochorenia je odhadovaný na 1:2000, v detskom veku je často poddiagnostikované. Etiológia ochorenia nie je v súčasnosti plne objasnená, predpokladá sa deficit hypokretínu. Diagnostika sa opiera o podrobnú spánkovú anamnézu, štandardné celonočné polysomnografické vyšetrenie s doplnením testu mnohopočetnej spánkovej latencie (MSLT) a stanovenie hypokretínu v likvore. Ochorenie vzhľadom na jeho charakter vedie u pacientov k zníženej kvalite života. Predkladáme kazuistiky troch pacientov z Kliniky detí a dorastu UNM, u ktorých bola stanovená diagnóza narkolepsie na základe vyššie uvedených postupov, pričom dvaja z nich podstúpili i odber mozgovomiechového moku za účelom stanovenia hladiny hypokretínu s pozitívnym výsledkom.

Narcolepsy is a chronic neurological disease characterized by a disorder of sleep cycle regulation. It is classified as hypersomnia in the classification of sleep disorders. The incidence of this disease is estimated at 1:2000, but it is often under diagnosed in childhood. There is no etiology currently fully elucidated, hypocretin deficiency is thought. Diagnosis is based on detailed sleep history, standard all-night videopolysomnography examination with multiple sleep latency test (MSLT) and cerebrospinal fluid hypocretin determination. Disease due to its nature leads to a reduced quality of life in patients. We present case reports of three patients from the Department of Children and Adolescents of University Hospital in Martin with newly diagnosed narcolepsy based on the above procedures, two patients also underwent collection of cerebrospinal fluid to determine hypocretin levels with a positive result.

• MeSH
• diferenciální diagnóza MeSH
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mozkomíšní mok cytologie   MeSH
• narkolepsie * diagnóza   patologie   terapie   MeSH
• orexiny analýza   fyziologie   MeSH
• polysomnografie MeSH
• poruchy nadměrné spavosti diagnóza   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH
• práce podpořená grantem MeSH

Obesity is characterized by chronic, low-grade systemic inflammation. Obesity may also be associated with chronic cough. The aim of this pilot study was to clarify relation of cough reflex sensitivity and body mass index (BMI) in children with chronic cough. Altogether 41 children having symptoms of chronic cough were submitted to cough reflex sensitivity measurement. We assessed the relation of cough reflex sensitivity (CKR) due to BMI. Cough reflex sensitivity was defined as the lowest capsaicin concentration which evoked two (C2) or five (C5) coughs. Capsaicin aerosol in doubling concentrations (from 0.61 to 1250 micromol/l) was inhaled by a single breath method (KoKo DigiDoser; nSpire heath Inc, Louisville, CO, USA), modified by the addition of an inspiratory flow regulator valve (RIFR; nSpire heath Inc, Louisville, CO, USA). BMI was calculated. Pulmonary function was within normal range. Concentrations of capsaicin causing two (C2) and five coughs (C5) were reported. Children (22 boys and 19 girls, mean age 6.8 years) cough reflex sensitivity (median, with the Inter-Quartile Range) for C2 was 19.5 (73.4) micromol/l; for C5 it was 78.1 (605.5) micromol/l. We have noticed statistically significant relation of the cough reflex sensitivity (C5) and body mass index (P<0.0001); however, the effect size was small, R2=0.03. Increase of body mass index in one unit is associated with -34.959 micromol/l decrease of C5. We did not find a statistically significant relation between C2 and BMI (P=0.41). The median value of CKR (C2) in boys is not statistically significantly different than the median value of CKR (C2) in girls (P-value 0.5). The median value of CKR (C5) in boys is not statistically significantly different than the median value of CKR (C5) in girls (P-value 0.5). Increase of body mass index in children suffering from chronic cough relates to decrease of cough reflex sensitivity (C5 value).

• MeSH
• alergie patofyziologie   MeSH
• chronická nemoc MeSH
• dítě MeSH
• index tělesné hmotnosti MeSH
• kapsaicin škodlivé účinky   MeSH
• kašel chemicky indukované   patofyziologie   MeSH
• látky ovlivňující senzorický systém škodlivé účinky   MeSH
• lidé MeSH
• mladiství MeSH
• pilotní projekty MeSH
• předškolní dítě MeSH
• reflex fyziologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Príručka, ktorá sa zameriava na bronchoalveolárnu laváž. Určené odborníkom v praxi.

• MeSH
• bronchoalveolární laváž metody   MeSH
• plicní nemoci diagnóza   MeSH
• Publikační typ
• příručky MeSH

• Konspekt
• Patologie. Klinická medicína
• NLK Obory
• pneumologie a ftizeologie
• NLK Publikační typ
• kolektivní monografie

Cieľ: U mládeže s diabetes mellitus 1. typu (DM1) je popisovaný zvýšený výskyt depresívnych a úzkostných symptómov, ktoré môžu v kombinácii s narušeným spánkom významne vplývať na adherenciu k liečbe i celkovú kvalitu života pacientov. V predkladanej práci sme skúmali depresívne a úzkostné symptómy, osobnostné charakteristiky, spánkovú architektoniku, parametre liečby DM1 ako aj ich vzájomné vzťahy v skupine detí a adolescentov. Metóda: Skúmaný súbor tvorilo 50 detí a adolescentov s DM1 vo veku od 10–18 rokov. Na zisťovanie depresívnych a úzkostných symptómov boli použité štandardizované sebaposudzovacie škály. Na objektívne zhodnotenie spánku bolo u probandov vykonané polysomnografické vyšetrenie (PSG). Hodnoty glykovaného hemoglobínu (HbA1c) odrážajúce kompenzáciu DM1 ako aj ďalšie parametre liečby boli pacientom zisťované počas hospitalizácie. Výsledky: Depresívne symptómy a príznaky úzkosti boli prítomné u 28 % a 27,91 % probandov. Medzi skupinou pacientov s depresívnou symptomatológiou a skupinou bez príznakov depresie boli zistené signifikantné rozdiely v dĺžke centrálnych apnoických udalostí (12,24 ± 1,69 vs. 8,15 ± 6,16, p = 0,038) ako aj apnoicko-hypopnoických udalostí (12,82 ± 2,31 vs. 8,71 ± 5,77, p = 0,045) napriek porovnateľným hodnotám HbA1c, veku a dĺžke trvania DM1. V protiklade s našimi očakávaniami nebol zistený vzťah medzi glykemickou kompenzáciou (HbA1c) a depresívnymi (r = -0,02; p <0,05) či úzkostnými (r = 0,09; p <0,05) symptómami. Depresívne a úzkostné symptómy však vzájomne súviseli na štatisticky významnej úrovni (r = 0,51; p <0,05). Zistili sme stredne tesné vzťahy osobnostnej premennej extroverzia-introverzia so spánkovými parametrami celková doba spánku (r = -0,40; p <0,05), účinnosť hlbokého spánku (r = -0,42; p <0,05), percentuálne zastúpenie štádií spánku NREM N2 (r = 0,52; p <0,05) a NREM N3 (r = -0,42; p <0,05). Záver: Prítomnosť dlhších centrálnych apnoických a apnoicko-hypopnoických udalostí u detí a adolescentov s DM1 a s depresívnymi symptómami naznačuje možnú úlohu depresivity vo vzťahu medzi spánkovými poruchami dýchania a metabolickou kontrolou. Je potrebný ďalší výskum zameraný na zistenie spoločných patomechanizmov uvedených porúch.

Depressive and anxiety symptoms in relation to sleep architecture in children and adolescents with type 1 diabetes Objectives: Youth with type 1 diabetes (T1D) are more susceptible to develop depressive and anxiety symptoms. In combination with disturbed sleep, these conditions may significantly affect adherence to treatment. We investigated the depressive and anxiety symptoms, personality traits, sleep architecture, compensation, and duration of T1D and their possible intercorrelations in a sample of children and adolescents. Methods: The sample consisted of 50 subjects aged 10–18 years hospitalized at the time of research at the Pediatric Department. We used self-report validated scales for detecting depressive and anxiety symptoms. Sleep architecture was measured by single night polysomnography (PSG). The values of patients' glycated hemoglobin (HbA1c) reflecting glycemic control and disease duration was determined according to the data in the medical record. Results: The depressive and anxiety symptoms were detected in 28% and 27.91% subjects, respectively. The main differences between depressed and non-depressed groups included significantly longer central apnoeic events (12.24±1.69 vs 8.15±6.16, p=0.038) as well as apnoeic–hypopnoeic events (12.82±2.31 vs 8.71±5.77, p=0.045) despite the comparable HbA1c, age, and duration of T1D. In contrast to our expectations, no significant association between HbA1c and depressive (r=-0.02; p<0.05) nor anxiety (r=0.09; p<0.05) symptoms was found. Depressive and anxiety symptoms correlated on a statistically significant level (r=0.51; p<0.05). Personality trait of extraversion-introversion correlated on the moderate level with sleep parameters total sleep time (r=-0.40; p<0.05), deep sleep efficiency (r=-0.42; p<0.05), the percentage of total sleep time spent in sleep stages NREM N2 (r=0.52; p<0.05) and NREM N3 (r=-0,42; p<0.05). Conclusion: The longer duration of central apnoeic and apnoeic–hypopnoeic events found in youth with T1D and depressive symptoms, suggest possible role of depressive symptomatology between sleep disordered breathing and metabolic control. Further research in possible shared mechanisms underlying these conditions is needed.

• MeSH
• deprese * diagnóza   MeSH
• diabetes mellitus 1. typu * diagnóza   psychologie   MeSH
• dítě MeSH
• komorbidita MeSH
• komplikace diabetu MeSH
• lidé MeSH
• mladiství MeSH
• poruchy spánku a bdění diagnóza   MeSH
• průzkumy a dotazníky MeSH
• úzkost diagnóza   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• práce podpořená grantem MeSH