In this study, we aimed to observe the effects of positive airway pressure (PAP) on individual levels of obstruction during drug-induced sleep endoscopy (DISE) of the upper airways (UA), to evaluate at which pressures the obstruction disappeared or worsened, and to identify cases in which PAP was ineffective. This prospective study was conducted from June 2018 to June 2022. PAP testing was performed during DISE in patients with moderate and severe OSA. The pressure was gradually increased over the range from 6.0 to 18.0 hPa. Our findings were evaluated using the VOTE classification. The examination was performed in 56 patients, with a median apnea-hypopnea index (AHI) of 26.4. Complete obstruction of the soft palate was observed in 51/56 patients (91%), oropharyngeal obstruction in 15/56 patients (27%), tongue base obstruction in 23/56 patients (41%), and epiglottic collapse in 16/56 patients (29%). PAP was most effective in cases of complete oropharyngeal obstruction, and least effective in cases of epiglottic collapse, where it was ineffective in 11/16 patients. DISE with PAP is a simple diagnostic method that can be helpful for identifying anatomic and dynamic reasons for PAP intolerance. The main indication is ineffective PAP treatment.
- Publikační typ
- časopisecké články MeSH
Drug-induced sleep endoscopy (DISE) reveals epiglottic collapse to be a frequent cause of obstructive sleep apnea (OSA) and intolerance of positive airway pressure (PAP). These patients require different management. This prospective study aimed to compare transoral laser epiglottopexy outcomes in patients with OSA caused by epiglottic collapse with the patients' previous PAP outcomes. Fifteen consecutive adult patients with OSA and epiglottic collapse during DISE were included; ten were analyzed. Before inclusion, PAP was indicated and ineffective in six patients, one of whom underwent unsuccessful uvulopalatopharyngoplasty. PAP was performed during DISE in all patients before epiglottopexy and was uniformly ineffective. ENT control was performed at 1 week and 1 month, and control limited polygraphy to 6 months after surgery. The apnea-hypopnea index (AHI) and Epworth Sleepiness Scale (ESS) were significantly improved (p < 0.001 and p = 0.003, respectively) in all patients after epiglottopexy. Surgery was successful in 9/10 patients; the remaining patient had a significantly decreased AHI and could finally tolerate PAP. Transoral laser epiglottopexy is used to treat OSA in patients with epiglottic collapse. Unlike other methods, it significantly reduces both AHI and ESS and should be considered for these patients. An active search for OSA patients with epiglottic collapse is recommended to prevent treatment failure.
- Publikační typ
- časopisecké články MeSH
Souhrn: Obstrukční spánková apnoe (dále OSA) je chronické onemocnění charakterizované epizodami obstrukce horních cest dýchacích během spánku se zástavou dechu, doprovázené poklesem saturace hemoglobinu kyslíkem v krvi a následnou aktivací sympatiku. Tento stav vede k probouzecím reakcím, k fragmentaci spánku a může způsobovat zvýšenou denní spavost. OSA je samostatným rizikovým faktorem pro kardiovaskulární, cerebrovaskulární a metabolická onemocnění. Ke správné diagnostice je potřeba odebrat kompletní anamnézu pacienta, doplněnou fyzikálním vyšetřením a monitorací spánku pomocí limitované polygrafie nebo polysomnografie. Vhodné je také provedení endoskopického vyšetření horních dýchacích cest otorinolaryngologem v uměle navozeném spánku (Drug Induced Sleep Endoscopy – DISE), které je užitečným nástrojem, umožňujícím lokalizovat funkčně-anatomickou obstrukci, a může napomoci následné účinné terapii OSA.
Summary: Obstructive sleep apnea (OSA) is a chronic disease characterized by recurrent partial or complete upper airway obstruction during sleep, resulting in a decrease in peripheral blood oxygen saturation and subsequent sympathetic activation. This condition leads to awakening reactions and sleep fragmentation and may be related with increased daytime sleepiness. OSA is a separate risk factor for cardiovascular, cerebrovascular and metabolic diseases. For proper diagnosis and subsequent effective therapy of OSA, a complete patient history should be taken into account, supplemented by physical examination and sleep monitoring with limited polygraphy or polysomnography. Drug Induced Sleep Endoscopy (DISE) is used to locate functional-anatomical airway obstruction during sleep and may assist subsequent effective therapy of OSA.
Cíl: Cílem práce bylo sledovat vliv přetlakové ventilace (positive airway pressure; PAP) na jednotlivá místa obstrukce při léky navozené spánkové endoskopii horních dýchacích cest (HDC), hodnotit, při kterém tlaku dochází k vymizení/ zhoršení obstrukce, a objasnit případné důvody možné intolerance PAP. Soubor a metodika: V období od 6/ 2018 do 12/ 2020 byla provedena zkouška PAP při spánkové endoskopii u 20 pacientů s obstrukční spánkovou apnoí bez předchozí terapie. V průběhu vyšetření byla identifikována místa obstrukce v HDC. Bylo hodnoceno, jak se rozdílný tlak nastavený při PAP odráží na chování HDC, na jejich roztažení či kolapsu vedoucím k jejich obstrukci. Sledování bylo zahájeno při tlaku 6 hPa, postupně byl tlak skokově zvyšován po 2 hPa v rozmezí 6–18 hPa. Každý tlak byl aplikován minimálně 20 s. Nálezy byly hodnoceny pomocí klasifikace VOTE dle Keziriana a vzájemně porovnány. Výsledky: Nejlepší efekt PAP byl pozorován v případě předozadní obstrukce v oblasti měkkého patra, průměrný otevírací tlak byl 11,2 hPa. U laterolaterální obstrukce orofaryngu byl průměrný otevírací tlak 12 hPa. PAP neměl efekt u 8/ 20 pacientů, 6× z důvodu koncentrické nebo laterolaterální obstrukce měkkého patra 2× u kolapsu epiglottis. U kolabující epiglottis PAP neuvolňuje dýchací cesty, protože se zvyšujícím se tlakem PAP dochází ke zhoršení obstrukce a nasávání epiglottis na zadní stěnu hltanu. Závěr: Léky navozená spánková endoskopie HDC s PAP je jednoduché a snadno proveditelné vyšetření, pomocí kterého lze snížit intoleranci PAP (např. při kolapsu epiglottis) a tím optimalizovat léčbu. Předpokládáme lepší complianci přetlakového přístroje u pacientů, kteří jsou k této léčbě indikováni.
Aim: The aim of the work was to monitor the effect of positive airway pressure (PAP) on the particular sites of obstruction during the drug-induced sleep endoscopy to evaluate at which pressure the obstruction disappears/worsens and to clarify possible reasons for PAP intolerance. Materials and Methods: In the period from 6/2018 to 12/2020, a PAP test was performed during the drug-induced sleep endoscopy in 20 patients with obstructive sleep apnea without previous therapy. During the examination, sites of obstruction in the upper respiratory tract were identified. It was evaluated how the different pressure set during PAP ventilation reflects on the behaviour of the upper respiratory tract, and on its expansion or collapse leading to its obstruction. Monitoring was started at a pressure of 6 hPa, and gradually the pressure was increased stepwise by 2 hPa in the range from 6 to 18 hPa. Each pressure was applied for a minimum of 20 s. The findings were evaluated using the VOTE classification according to Kezirian and compared with each other. Results: The best effect of PAP was observed in the case of anteroposterior obstruction in the soft palate area, where the average opening pressure was 11.2 hPa. For laterolateral oropharyngeal obstruction, the average opening pressure was 12 hPa. PAP had no effect in 8/20 patients, 6 times due to concentric or laterolateral obstruction of the soft palate, and twice due to the collapse of the epiglottis. In the collapsing epiglottis, PAP ventilation does not relax the airways, because with increasing PAP pressure, the obstruction and suction of the epiglottis on the posterior wall of the pharynx worsens. Conclusion: Drug-induced sleep endoscopy of the upper airways with PAP is a simple and easy-to-perform examination which can reduce PAP intolerance (e.g., in the event of an epiglottis collapse) and thus optimize the treatment. We assume better compliance of the pressure device in patients who are indicated for this treatment.
- Klíčová slova
- léky navozená spánková endoskopie, flexibilní endoskopie, přetlaková ventilace,
- MeSH
- endoskopie metody MeSH
- hypnotika a sedativa terapeutické užití MeSH
- klinická studie jako téma MeSH
- lidé MeSH
- obstrukční spánková apnoe * terapie MeSH
- spánek účinky léků MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
- Klíčová slova
- flexibilní endoskopie horních dýchacích cest,
- MeSH
- anestetika intravenózní aplikace a dávkování farmakologie terapeutické užití MeSH
- endoskopie * metody MeSH
- klinická studie jako téma MeSH
- lidé MeSH
- obstrukční spánková apnoe * diagnóza terapie MeSH
- propofol aplikace a dávkování farmakologie terapeutické užití MeSH
- trvalý přetlak v dýchacích cestách metody MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
BACKGROUND: Variants of GATOR1-genes represent a recognised cause of focal cortical dysplasia (FCD), the most common structural aetiology in paediatric drug-resistant focal epilepsy. Reports on familial cases of GATOR1-associated FCD are limited, especially with respect to epilepsy surgery outcomes. METHODS: We present phenotypical manifestations of four unrelated patients with drug-resistant focal epilepsy, FCD and a first-degree relative with epilepsy. All patients underwent targeted gene panel sequencing as a part of the presurgical work up. Literature search was performed to compare our findings to previously published cases. RESULTS: The children (probands) had a more severe phenotype than their parents, including drug-resistant epilepsy and developmental delay, and they failed to achieve seizure freedom post-surgically. All patients had histopathologically confirmed FCD (types IIa, IIb, Ia). In Patient 1 and her affected father, we detected a known pathogenic NPRL2 variant. In patients 2 and 3 and their affected parents, we found novel likely pathogenic germline DEPDC5 variants. In family 4, we detected a novel variant in NPRL3. We identified 15 additional cases who underwent epilepsy surgery for GATOR1-associated FCD, with a positive family history of epilepsy in the literature; in 8/13 tested, the variant was inherited from an asymptomatic parent. CONCLUSION: The presented cases displayed a severity gradient in phenotype with children more severely affected than the parents. Although patients with GATOR1-associated FCD are considered good surgical candidates, post-surgical seizure outcome was poor in our familial cases, suggesting that accurate identification of the epileptogenic zone may be more challenging in this subgroup of patients.
- MeSH
- dítě MeSH
- fenotyp MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- malformace mozkové kůry genetika chirurgie MeSH
- mladiství MeSH
- nádorové supresorové proteiny genetika MeSH
- proteiny aktivující GTPasu genetika MeSH
- refrakterní epilepsie genetika MeSH
- retrospektivní studie MeSH
- zárodečné mutace MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Somnologie je přírodní věda o spánku. Jako jeden z mladých lékařských oborů zažívá v posledních deseti letech nebývalý rozvoj. Je multidisciplinárním oborem s nutnou mezioborovou spoluprací. Syndrom spánkové apnoe je onemocněním, kterým spánková medicína proniká i do kardiologie. Výsledkem patofyziologických procesů je mimo jiné hyperaktivace sympatického nervového systému s celou řadou důsledků pro kardiovaskulární systém. Z pohledu kardiologa je proto klíčové na syndrom obstrukční spánkové apnoe pomyslet. © 2019, ČKS.
Sleep medicine is a young discipline that has experienced unprecedented development in the last ten years. It is a multidisciplinary fi eld that necessitates cooperation with other medical disciplines. Sleep apnea is a condition in which sleep medicine impacts cardiology. The pathophysiology of obstructive sleep apnea includes, inter alia hyperactivation of the sympathetic nervous system (SNS) with a number of implications for the cardiovascular system. This case report reveals the importance of considering obstructive sleep apnea syndrome in relation to resistant hypertension.
OBJECTIVE: To evaluate the impact of generalized quasiperiodic epileptiform discharges ("hurdles") observed in non-rapid eye movement (NREM) sleep on cognitive function in children with intractable focal epilepsy. "Hurdles" pattern does not meet the criteria of the electrical status epilepticus in slow-wave sleep (ESES). METHODS: In a retrospective analysis, 24 patients with "hurdles" and their 24 peers matched for demographic and epilepsy-related variables were compared in terms of neuropsychological domains and electroencephalography (EEG)-derived quantifiers. Both "hurdles" and controls were children between 2 and 19 years of age who had intractable focal epilepsy evaluated as candidates of resective epilepsy surgery. RESULTS: Full-scale intelligence quotient/developmental quotient (FSIQ/DQ) (P = .002) and visuoconstructional skills (P = .004) were significantly lower in children with "hurdles" compared to controls. Patients with "hurdles" presented with higher interictal spike indexes in sleep (P < .001, median difference -0.9, 95% confidence interval [CI] -1.4, -0.6) and wakefulness (P < .001, median difference -0.3, 95% CI -0.5, -1). Relative time of sleep spindles in NREM sleep was significantly reduced (P < .001, median difference 0.1, 95% CI 0.0, 0.1) in the "hurdles" group. The time proportion of sleep spindles represented a significant positive (P = .008) and spike index of generalized spikes in sleep a significant negative explanatory variable (P = .004) of FSIQ/DQ scores. The proportion of seizure-free patients 2 years after epilepsy surgery did not differ significantly between the two groups (P = .19). SIGNIFICANCE: Although the "hurdles" pattern does not fulfill the criteria of ESES, it is associated with a pronounced cognitive dysfunction. Disturbed sleep structure marked by reduced sleep spindles and generalized spiking in sleep is associated with worse cognitive performance. Despite having a generalized nature, we did not find a lower probability of postsurgical seizure freedom in patients with "hurdles" pattern.
- MeSH
- bdění fyziologie MeSH
- dítě MeSH
- elektroencefalografie trendy MeSH
- epilepsie parciální diagnóza patofyziologie psychologie MeSH
- kognitivní dysfunkce diagnóza patofyziologie psychologie MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- refrakterní epilepsie diagnóza patofyziologie psychologie MeSH
- retrospektivní studie MeSH
- spánek fyziologie MeSH
- studie případů a kontrol MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- práce podpořená grantem MeSH
Background: We aimed first to describe trends in cognitive performance over time in a large patient cohort (n = 203) from a single tertiary centre for paediatric epilepsy surgery over the period of 16 years divided in two (developing-pre-2011 vs. established-post-2011). Secondly, we tried to identify subgroups of epilepsy surgery candidates with distinctive epilepsy-related characteristics that associate with their pre- and post-surgical cognitive performance. Thirdly, we analysed variables affecting pre-surgical and post-surgical IQ/DQ and their change (post- vs. pre-surgical). Methods: We analysed IQ/DQ data obtained using standardized neuropsychological tests before epilepsy surgery and one year post-surgically, along with details of patient's epilepsy, epilepsy surgery and outcomes in terms of freedom from seizures. Using regression analysis, we described the trend in post-operative IQ/DQ. Cognitive outcomes and the associated epilepsy- and epilepsy surgery-related variables were compared between periods before and after 2011. Using multivariate analysis we analysed the effect of individual variables on pre- and post-operative IQ/DQ and its change. Results: Epilepsy surgery tends to improve post-surgical IQ/DQ, most significantly in patients with lower pre-surgical IQ/DQ, and post-surgical IQ/DQ strongly correlates with pre-surgical IQ/DQ (Rho = 0.888, p < 0.001). We found no significant difference in pre-, post-surgical IQ/DQ and IQ/DQ change between the periods of pre-2011 and post-2011 (p = 0.7, p = 0.469, p = 0.796, respectively). Patients with temporal or extratemporal epilepsy differed in their pre-surgical IQ/DQ (p = 0.001) and in IQ/DQ change (p = 0.002) from those with hemispheric epilepsy, with no significant difference in post-surgical IQ/DQ (p = 0.888). Groups of patients with different underlying histopathology showed significantly different pre- and post-surgical IQ/DQ (p < 0.001 and p < 0.001 respectively) but not IQ/DQ change (p = 0.345).Variables associated with severe epilepsy showed effect on cognitive performance in multivariate model. Discussion: Post-surgical IQ/DQ strongly correlates with pre-surgical IQ/DQ and greatest IQ/DQ gain occurs in patients with lower pre-surgical IQ/DQ scores. Cognitive performance was not affected by changes in paediatric epilepsy surgery practice. Pre- and post-operative cognitive performances, as well as patients' potential for cognitive recovery, are highly dependent on the underlying aetiology and epileptic syndrome.
- Publikační typ
- časopisecké články MeSH
