Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported, but little is known about other NPS. We aimed to study the presence and severity of a broad range of NPS in individuals with FRDA and assess the relationship between the NPS and the disease severity, cognition, and quality of life and to examine the concordance between the NPS reported by the patients and by their informants. Mild Behavioral Impairment Checklist (MBI-C), a questionnaire designed for screening NPS in the early stages of neurodegenerative diseases, was administered to informants of individuals with FRDA and healthy controls and to people with FRDA themselves. Compared to healthy controls, patients with FRDA scored significantly higher in the total MBI-C score, emotion dysregulation domain (corresponding to depression and anxiety), and decreased motivation domain. When assessed by caregiver, the total MBI-C score and several NPS domains correlated with activities of daily living. Only psychotic symptoms were related to ataxia severity and general cognition. When endorsed by patients, only the relation between few MBI-C domains and quality of life was observed. We found slight to moderate agreement between informant-rated and patient-rated scores. NPS, particularly emotion dysregulation and decreased motivation, are common and clinically relevant in FRDA and should receive more attention due to their potential impact on quality of life and the possibility of therapeutic intervention.

• MeSH
• činnosti denního života MeSH
• deprese etiologie   MeSH
• dospělí MeSH
• Friedreichova ataxie * psychologie   komplikace   MeSH
• kognice MeSH
• kvalita života * MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• průzkumy a dotazníky MeSH
• studie případů a kontrol MeSH
• stupeň závažnosti nemoci MeSH
• úzkost MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: This study aims to evaluate the efficacy of the Uniform Data Set (UDS) 2 battery in distinguishing between individuals with mild cognitive impairment (MCI) attributable to Alzheimer's disease (MCI-AD) and those with MCI due to other causes (MCI-nonAD), based on contemporary AT(N) biomarker criteria. Despite the implementation of the novel UDS 3 battery, the UDS 2 battery is still used in several non-English-speaking countries. METHODS: We employed a cross-sectional design. A total of 113 Czech participants with MCI underwent a comprehensive diagnostic assessment, including cerebrospinal fluid biomarker evaluation, resulting in two groups: 45 individuals with prodromal AD (A+T+) and 68 participants with non-Alzheimer's pathological changes or normal AD biomarkers (A-). Multivariable logistic regression analyses were employed with neuropsychological test scores and demographic variables as predictors and AD status as an outcome. Model 1 included UDS 2 scores that differed between AD and non-AD groups (Logical Memory delayed recall), Model 2 employed also Letter Fluency and Rey's Auditory Verbal Learning Test (RAVLT). The two models were compared using area under the receiver operating characteristic curves. We also created separate logistic regression models for each of the UDS 2 scores. RESULTS: Worse performance in delayed recall of Logical Memory significantly predicted the presence of positive AD biomarkers. In addition, the inclusion of Letter Fluency RAVLT into the model significantly enhanced its discriminative capacity. CONCLUSION: Our findings demonstrate that using Letter Fluency and RAVLT alongside the UDS 2 battery can enhance its potential for differential diagnostics.

• MeSH
• Alzheimerova nemoc * diagnóza   mozkomíšní mok   MeSH
• amyloidní beta-protein mozkomíšní mok   MeSH
• biologické markery * mozkomíšní mok   MeSH
• diferenciální diagnóza MeSH
• kognitivní dysfunkce * diagnóza   etiologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• neuropsychologické testy * normy   statistika a číselné údaje   MeSH
• proteiny tau mozkomíšní mok   MeSH
• průřezové studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

AIMS: Autoantibodies against hexokinase 1 (HK1) were recently proposed to be associated with diabetic macular edema (DME). We hypothesized that anti-HK1 autoantibodies can be used as DME markers and to predict DME onset. MATERIALS AND METHODS: Serum from patients with 1) DME, 2) diabetes mellitus (DM), 3) allergies or autoimmunities, and 4) control subjects was tested for anti-HK1 and anti-hexokinase 2 (HK2) autoantibodies by immunoblotting. Patients with DM were prospectively followed for up to nine years, and the association of anti-HK1 antibodies with new-onset DME was evaluated. The vitreous humor was also tested for autoantibodies. RESULTS: Among patients with DME, 32 % were positive for anti-HK1 autoantibodies (42 % of those with underlying type 1 DM and 31 % of those with underlying type 2 DM), and 12 % were positive for anti-HK2 autoantibodies, with only partial overlap of these two groups of patients. Anti-HK1 positive were also 7 % of patients with DM, 6 % of patients with allergies and autoimmunities, and 3 % of control subjects. The latter three groups were anti-HK2 negative. Only one of seven patients with DM who were initially anti-HK1 positive developed DME. CONCLUSIONS: Anti-HK1 autoantibodies can be used as DME markers but fail to predict DME onset.

• MeSH
• autoprotilátky * krev   imunologie   MeSH
• biologické markery krev   MeSH
• diabetes mellitus 1. typu imunologie   komplikace   krev   MeSH
• diabetes mellitus 2. typu imunologie   komplikace   krev   MeSH
• diabetická retinopatie * imunologie   krev   MeSH
• dospělí MeSH
• hexokinasa * imunologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• makulární edém * imunologie   krev   MeSH
• prospektivní studie MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Defective mitophagy is consistently found in postmortem brain and iPSC-derived neurons from Alzheimer disease (AD) patients. However, there is a lack of extensive examination of mitophagy status in serum or cerebrospinal fluid (CSF), and the clinical potential of mitophagy biomarkers has not been tested. We quantified biomarkers of mitophagy/autophagy and lysosomal degradation (PINK1, BNIP3L and TFEB) in CSF and serum from 246 individuals, covering mild cognitive impairment due to AD (MCI-AD, n = 100), dementia due to AD (AD-dementia, n = 100), and cognitively unimpaired individuals (CU, n = 46), recruited from the Czech Brain Aging Study. Cognitive function and brain atrophy were also assessed. Our data show that serum and CSF PINK1 and serum BNIP3L were higher, and serum TFEB was lower in individuals with AD than in corresponding CU individuals. Additionally, the magnitude of mitophagy impairment correlated with the severity of clinical indicators in AD patients. Specifically, levels of PINK1 positively correlated with phosphorylated (p)-MAPT/tau (181), total (t)-MAPT/tau, NEFL (neurofilament light chain), and NRGN (neurogranin) levels in CSF and negatively with memory, executive function, and language domain. Serum TFEB levels negatively correlated with NEFL and positively with executive function and language. This study reveals mitophagy impairment reflected in biofluid biomarkers of individuals with AD and associated with more advanced AD pathology.Abbreviation: Aβ: amyloid beta; AD: Alzheimer disease; AVs: autophagic vacuoles; BNIP3L: BCL2 interacting protein 3 like; CU: cognitively unimpaired; CSF: cerebrospinal fluid; LAMP1: lysosomal-associated membrane protein 1; MAP1LC3/LC3: microtubule associated protein 1 light chain 3; MCI: mild cognitive impairment; NRGN: neurogranin; NEFL: neurofilament light chain; p-MAPT/tau: phosphorylated microtubule associated protein tau; PINK1: PTEN induced kinase 1; t-MAPT/tau: total microtubule associated protein tau; TFEB: transcription factor EB; TMT: Trail Making Test.

• MeSH
• Alzheimerova nemoc * mozkomíšní mok   krev   diagnóza   MeSH
• biologické markery * mozkomíšní mok   krev   metabolismus   MeSH
• kognitivní dysfunkce mozkomíšní mok   krev   diagnóza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• membránové proteiny mozkomíšní mok   metabolismus   krev   MeSH
• mitofagie * MeSH
• mozek metabolismus   patologie   MeSH
• nádorové supresorové proteiny MeSH
• proteinkinasy metabolismus   MeSH
• proteiny tau mozkomíšní mok   metabolismus   MeSH
• protoonkogenní proteiny mozkomíšní mok   krev   metabolismus   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• transkripční faktory BHLH-Zip metabolismus   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• Publikační typ
• abstrakt z konference MeSH

Cíl: Cílem práce je retrospektivně zhodnotit anatomickou úspěšnost a funkční výsledky 25G+ PPV v řešení nově diagnostikovaného rhegmatogenního odchlípení sítnice (ROS). Materiál a Metody: Soubor tvoří 152 očí 152 pacientů, z toho 71 (47 %) mužů, průměrného věku 54 let operovaných jedním chirurgem pro ROS na Oční klinice FN a LF MU Brno od 1. 7. 2019 do 4. 5. 2021 technikou 25G+ PPV. U 7 pacientů byla provedena 25G+ PPV s našitím preekvatoriální cerkláže. V anamnéze pacientů bylo přípustné tupé poranění oka a nekomplikovaná operace šedého zákalu s implantací zadněkomorové nitrooční čočky. Příčinou ROS byla/y retinální trhlina/y bez ohledu na jejich počet a lokalizaci. Transparentnost předního segmentu oka umožňovala spolehlivou vizualizaci zadního segmentu. Přípustná byla předoperační proliferativní vitreoretinopatie (PVR) stupně A-D2.Vyloučeni byli pacienti, s pronikajícím očním poraněním v anamnéze. Pooperační nálezy a funkční výsledky pacientů byly hodnoceny s odstupem 1–3 měsíců po PPV. Operace byla anatomicky úspěšná, pokud byla sítnice přiložená v plném rozsahu. U každého pacienta byla hodnocena výsledná zraková ostrost (ZO). Vyšetření ZO bylo prováděno na Snellenově optotypu naturálně, s vlastní brýlovou korekcí anebo s korekcí dle aktuálních hodnot na autorefraktometru. Pro číselné vyjádření dosažených výsledků byl použit aritmetický průměr a numerické hodnoty byly rovněž vyjádřeny v procentech. Protože nebyly vzájemně porovnávány různé skupiny, nebylo nutno k analýze výsledků použít žádný statistický test. Výsledky: U 150 (98,7 %) ze 152 pacientů souboru jsme dosáhli přiložení sítnice v celém rozsahu, u 2 (1,3 %) pacientů zůstala sítnice odchlípená a konstatovali jsme anatomický neúspěch léčby. 50 (33 %) pacientů dosáhlo ZO ≥ 4/8. Závěr: U 133 (87,5 %) pacientů konstatujeme dosažení anatomického úspěchu již bez přítomnosti nitrooční tamponády v operovaném oku. Tyto pacienty lze považovat za zcela vyléčené. 25G+ PPV potvrdila svůj přínos pro řešení ROS.

Aim: The aim of the study is to retrospectively evaluate the anatomical success rate and functional results of 25G+ PPV in the treatment of newly diagnosed rhegmatogenous retinal detachment (RRD). Material and Methods: The set consists of 152 eyes of 152 patients, of which 71 (47%) were men, average age 54 years, operated on by one surgeon for RRD at the Eye Clinic of the University Hospital and Medical Faculty of Masaryk University Brno from 1.7.2019 to 4.5.2021 using the 25G+ PPV technique. 25G+ PPV with pre-equatorial cerclage was performed on 7 patients. The patients' anamnesis included blunt ocular trauma and uncomplicated cataract surgery with implantation of a posterior chamber intraocular lens. The cause of RRD was retinal tear/s, regardless of their number and location. The transparency of the anterior segment of the eye enabled reliable visualization of the posterior segment. Preoperative proliferative vitreoretinopathy (PVR) grade A-D2 was admissible. Patients with a history of penetrating ocular trauma were excluded. The postoperative findings and functional outcomes of the patients were evaluated 1–3 months after PPV. The operation was anatomically successful if the retina was fully attached. Final visual acuity (VA) was evaluated for each patient. The final visual acuity examination was carried out typically on a Snellen optotype, either without correction, with the patient’s own spectacle correction or with correction according to the current values on the autorefractometer. The arithmetic average was used for the numerical expression of the attained results, and the numerical values were also expressed in percentages. Since the different groups were not compared with each other, no statistical test was necessary to analyze the results. Results: In 150 (98.7%) of the 152 patients in the group, we achieved complete retinal reattachment, in 2 (1.3%) patients the retina remained detached, and we recorded anatomical failure of the treatment. Fifty (33%) patients achieved VA ≥ 4/8. Conclusion: In 133 (87.5%) patients, we are able to state anatomical success even without the presence of intraocular tamponade in the operated eye. These patients can be considered completely cured. 25G+ PPV has demonstrated its contribution to resolving RRD.

• MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• odchlípení sítnice * chirurgie   MeSH
• perforace sítnice MeSH
• senioři MeSH
• statistika jako téma MeSH
• vitrektomie * metody   statistika a číselné údaje   MeSH
• zraková ostrost MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• klinická studie MeSH

• MeSH
• demence * diagnóza   epidemiologie   MeSH
• duševní poruchy * diagnóza   epidemiologie   MeSH
• lidé MeSH
• rizikové faktory MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH
• úvodníky MeSH

BACKGROUND: Mild behavioral impairment (MBI) has been commonly reported in early Alzheimer's disease (AD) but rarely using biomarker-defined samples. It is also unclear whether genetic polymorphisms influence MBI in such individuals. We thus aimed to examine the association between the cognitive status of participants (amnestic mild cognitive impairment (aMCI-AD) vs cognitively normal (CN) older adults) and MBI severity. Within aMCI-AD, we further examined the association between APOE and BDNF risk genetic polymorphisms and MBI severity. METHODS: We included 62 aMCI-AD participants and 50 CN older adults from the Czech Brain Aging Study. The participants underwent neurological, comprehensive neuropsychological examination, APOE and BDNF genotyping, and magnetic resonance imaging. MBI was diagnosed with the Mild Behavioral Impairment Checklist (MBI-C), and the diagnosis was based on the MBI-C total score ≥ 7. Additionally, self-report instruments for anxiety (the Beck Anxiety Inventory) and depressive symptoms (the Geriatric Depression Scale-15) were administered. The participants were stratified based on the presence of at least one risk allele in genes for APOE (i.e., e4 carriers and non-carriers) and BDNF (i.e., Met carriers and non-carriers). We used linear regressions to examine the associations. RESULTS: MBI was present in 48.4% of the aMCI-AD individuals. Compared to the CN, aMCI-AD was associated with more affective, apathy, and impulse dyscontrol but not social inappropriateness or psychotic symptoms. Furthermore, aMCI-AD was related to more depressive but not anxiety symptoms on self-report measures. Within the aMCI-AD, there were no associations between APOE e4 and BDNF Met and MBI-C severity. However, a positive association between Met carriership and self-reported anxiety appeared. CONCLUSIONS: MBI is frequent in aMCI-AD and related to more severe affective, apathy, and impulse dyscontrol symptoms. APOE and BDNF polymorphisms were not associated with MBI severity separately; however, their combined effect warrants further investigation.

• MeSH
• Alzheimerova nemoc * diagnostické zobrazování   epidemiologie   genetika   MeSH
• apolipoproteiny E genetika   MeSH
• genotyp MeSH
• kognitivní dysfunkce * diagnostické zobrazování   epidemiologie   genetika   MeSH
• lidé MeSH
• mozkový neurotrofický faktor genetika   MeSH
• neuropsychologické testy MeSH
• polymorfismus genetický genetika   MeSH
• senioři MeSH
• Check Tag
• lidé MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND/AIMS: To provide longer-term data on efficacy, safety, immunogenicity and pharmacokinetics (PK) of ranibizumab biosimilar SB11 compared with the reference ranibizumab (RBZ) in patients with neovascular age-related macular degeneration (nAMD). METHODS: Setting: Multicentre. Design: Randomised, double-masked, parallel-group, phase III equivalence study. Patient population: ≥50 years old participants with nAMD (n=705), one 'study eye'. INTERVENTION: 1:1 randomisation to monthly intravitreal injection of 0.5 mg SB11 or RBZ. Main outcome measures: Visual efficacy endpoints, safety, immunogenicity and PK up to 52 weeks. RESULTS: Baseline and disease characteristics were comparable between treatment groups. Of 705 randomised participants (SB11: n=351; RBZ: n=354), 634 participants (89.9%; SB11: n=307; RBZ: n=327) completed the study until week 52. Previously reported equivalence in primary efficacy remained stable up to week 52 and were comparable between SB11 and RBZ. The adjusted treatment difference between SB11 and RBZ in full analysis set at week 52 of change from baseline in best-corrected visual acuity was -0.6 letters (90% CI -2.1 to 0.9) and of change from baseline in central subfield thickness was -14.9 μm (95% CI -25.3 to -4.5). The incidence of ocular treatment-emergent adverse events (TEAEs) (SB11: 32.0% vs RBZ: 29.7%) and serious ocular TEAE (SB11: 2.9% vs RBZ: 2.3%) appeared comparable between treatment groups, and no new safety concerns were observed. The PK and immunogenicity profiles were comparable, with a 4.2% and 5.5% cumulative incidence of antidrug antibodies up to week 52 for SB11 and RBZ, respectively. CONCLUSIONS: Longer-term results of this study further support the biosimilarity established between SB11 and RBZ.

• MeSH
• biosimilární léčivé přípravky * terapeutické užití   MeSH
• inhibitory angiogeneze terapeutické užití   MeSH
• injekce intravitreální MeSH
• lidé středního věku MeSH
• lidé MeSH
• makulární degenerace * farmakoterapie   MeSH
• ranibizumab terapeutické užití   MeSH
• vaskulární endoteliální růstový faktor A MeSH
• vlhká makulární degenerace * diagnóza   farmakoterapie   MeSH
• výsledek terapie MeSH
• zraková ostrost MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• klinické zkoušky, fáze III MeSH
• práce podpořená grantem MeSH
• randomizované kontrolované studie MeSH

Subglotická cysta je vzácné onemocnění hrtanu, vyskytující se v novorozeneckém nebo kojeneckém věku. Typickým projevem onemocnění je stridor. Diagnostika je založená na anamnéze a flexibilní laryngoskopii, v případě nejasností je indikovaná tracheobronchoskopie v celkové anestezii. Terapií je chirurgická excize, vzhledem k častým recidivám je nutné následné sledování. Cílem kazuistiky je poukázat na toto vzácné onemocnění a zařadit ho do diferenciální diagnostiky stridoru u dětí.

Subglottic cyst is a rare disease of the larynx, which occurs to newborns or infants. The typical symptom is stridor. Diagnosis depends on anamnesis and flexibile endoscopy, in a case of uncertainity the tracheobronchoscopy in general anesthesia is indicated. The main therapeutical modality is surgical excision. Regular check-up sis neccesery, because of often reccurency of the disease. Aim of this case report is to point out this rare disease and to add it to differential diagnosis of stridor in children.

• MeSH
• cysty * chirurgie   diagnostické zobrazování   vrozené   MeSH
• diferenciální diagnóza MeSH
• kojenec MeSH
• larynx chirurgie   diagnostické zobrazování   patologie   MeSH
• lidé MeSH
• nemoci laryngu * chirurgie   diagnostické zobrazování   patologie   MeSH
• respirační zvuky MeSH
• věk při počátku nemoci MeSH
• vrozené, dědičné a novorozenecké nemoci a abnormality MeSH
• výsledek terapie MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• Publikační typ
• kazuistiky MeSH
• práce podpořená grantem MeSH