Q57223523
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The aim of the present study was to examine gender and age-specific effects on subjective daytime sleepiness (as measured by the Epworth Sleepiness Scale), body weight and eating behaviour in patients with central disorders of hypersomnolence. Based on the European Narcolepsy Network database, we compared 1035 patients with narcolepsy type I and 505 patients with other central disorders of hypersomnolence ("narcoleptic borderland"), including narcolepsy type II (N = 308) and idiopathic hypersomnia (N = 174), using logistic regression and general linear models. In the entire study population, the Epworth Sleepiness Scale was higher in women (N = 735, mean age = 30 years, mean Epworth Sleepiness Scale = 16.6 ± SD 3.9) than in men (N = 805, mean age = 32 years, mean Epworth Sleepiness Scale = 15.8 ± SD 4.4). In women with narcolepsy type I (N = 475), both Epworth Sleepiness Scale and body mass index increased in parallel with age. In women of the narcoleptic borderland (N = 260), the Epworth Sleepiness Scale markedly peaked in their early 30s, while body mass index only started to rise at that age. This rise in body mass index following the Epworth Sleepiness Scale peak cannot be explained by sleepiness-induced uncontrolled eating, as self-reported uncontrolled eating was negatively associated with the Epworth Sleepiness Scale in this group. We propose that the narcoleptic borderland harbours a unique cluster of women in their fertile years with an unexplored aetiology requiring further investigation towards tailored interventions.
- MeSH
- dospělí MeSH
- index tělesné hmotnosti * MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- narkolepsie * patofyziologie MeSH
- poruchy nadměrné spavosti * patofyziologie epidemiologie MeSH
- sexuální faktory MeSH
- stravovací zvyklosti MeSH
- tělesná hmotnost MeSH
- věkové faktory MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Little attention has been paid to the long-term development of idiopathic hypersomnia symptoms and idiopathic hypersomnia comorbidities. The aim of this study was to describe the general health of patients with idiopathic hypersomnia years after the initial diagnosis, focusing on current subjective hypersomnolence and the presence of its other possible causes. Adult patients diagnosed with idiopathic hypersomnia ≥ 3 years ago at sleep centres in Prague and Kosice were invited to participate in this study. A total of 60 patients were examined (age 47.3 ± SD = 13.2 years, 66.7% women). In all participants, their hypersomnolence could not be explained by any other cause but idiopathic hypersomnia at the time of diagnosis. The mean duration of follow-up was 9.8 + 8.0 years. Fifty patients (83%) reported persisting hypersomnolence, but only 33 (55%) had no other disease that could also explain the patient's excessive daytime sleepiness and/or prolonged sleep. In two patients (3%), the diagnosis in the meantime had changed to narcolepsy type 2, and 15 patients (25%) had developed a disease or diseases potentially causing hypersomnolence since the initial diagnosis. Complete hypersomnolence resolution without stimulant treatment lasting longer than 6 months was reported by 10 patients (17%). To conclude, in a longer interval from the diagnosis of idiopathic hypersomnia, hypersomnolence may disappear or may theoretically be explained by another newly developed disease, or the diagnosis may be changed to narcolepsy type 2. Thus, after 9.8 years, only 55% of the examined patients with idiopathic hypersomnia had a typical clinical picture of idiopathic hypersomnia without doubts about the cause of the current hypersomnolence.
- MeSH
- dospělí MeSH
- idiopatická hypersomnie * diagnóza epidemiologie farmakoterapie MeSH
- komorbidita MeSH
- lidé středního věku MeSH
- lidé MeSH
- narkolepsie * diagnóza epidemiologie MeSH
- poruchy nadměrné spavosti * diagnóza epidemiologie komplikace MeSH
- pozornost MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- centra terciární péče organizace a řízení MeSH
- epilepsie * MeSH
- lidé MeSH
- poskytování zdravotní péče * organizace a řízení MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
- Geografické názvy
- Česká republika MeSH
- Slovenská republika MeSH
Steroid responzívna encefalopatia asociovaná s autoimunitnou tyreoiditídou (SREAT) označovaná ako aj Hashimotova encefalopatia (HE) predstavuje heterogénne ochorenie s neurologickými a neuropsychiatrickými príznakmi, pri laboratórnom náleze protilátok proti štítnej žľaze a absencii inej príčiny encefalopatie. V klinickom náleze sa najčastejšie stretávame s akútnym vznikom encefalopatie pod obrazom porúch pamäti a správania, prítomnosťou epileptických záchvatov ako aj cerebelárnej alebo extrapyramídovej symptomatológie. U väčšiny pacientov pozorujeme dobrý efekt kortikoidov (metylprednisolon, prednison) s rýchlou úpravou stavu, a len malá časť pacientov vyžaduje inú imunosupresívnu terapiu (plazmaferéza, intravenózne imunoglobulíny). V práci prezentujeme prípady dvoch pacientok s akútnym rozvojom encefalopatie, status epilepticus na poklade SREAT, s úpravou stavu po kortikoidnej terapii.
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT), known as Hashimoto's encephalopathy (HE), represents a heterogeneous group of neurological and neuropsychiatric symptoms associated with a presence of antithyroid antibodies in case of other causes of encephalopathy were excluded. Clinical symptoms most commonly includes acute onset of encephalopathy, behaviour changes and cognitive dysfunction, epileptic seizures as well as cerebellar and extrapyramidal symptoms. Corticoids provides rapid and sustained therapeutic benefit in most patients and only a few patients require other immunosuppressive therapy such as plasmapheresis, intravenous immunoglobulins, or others. We present the cases of two patients with acute onset of encephalopathy, status epilepticus based on SREAT, with rapid improvement after steroid treatment.
- Klíčová slova
- steroid responzivní encefalopatie asociovaná s autoimunitní tyreoitidou,
- MeSH
- autoimunitní tyreoiditida diagnóza farmakoterapie MeSH
- diferenciální diagnóza MeSH
- glukokortikoidy aplikace a dávkování terapeutické užití MeSH
- Hashimotova nemoc * diagnostické zobrazování farmakoterapie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mozek diagnostické zobrazování patologie MeSH
- mozkomíšní mok chemie MeSH
- status epilepticus diagnóza MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB1*03:01 and DPB1*04:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals at TRA and DQB1*06:02 loci were found in 245 vaccination-related cases, who also shared polygenic risk. T cell receptor associations in NT1 modulated TRAJ*24, TRAJ*28 and TRBV*4-2 chain-usage. Partitioned heritability and immune cell enrichment analyses found genetic signals to be driven by dendritic and helper T cells. Lastly comorbidity analysis using data from FinnGen, suggests shared effects between NT1 and other autoimmune diseases. NT1 genetic variants shape autoimmunity and response to environmental triggers, including influenza A infection and immunization with Pandemrix®.
- MeSH
- autoimunita genetika MeSH
- autoimunitní nemoci * epidemiologie genetika MeSH
- chřipka lidská * epidemiologie genetika MeSH
- lidé MeSH
- narkolepsie * chemicky indukované genetika MeSH
- vakcíny proti chřipce * škodlivé účinky MeSH
- virus chřipky A, podtyp H1N1 * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
Denná spavosť (DS) predstavuje pre postihnutého jedinca závažné riziko v podobe sťaženého pracovného uplatnenia a zníženej kvality života a v závislosti od jej príčiny aj metabolické a kardiovaskulárne následky. Práca analyzuje charakter ospalosti v závislosti od jej príčiny, diagnostické postupy a terapeutické možnosti. Na príklade piatich kazuistík poukazuje na rozdiely v klinickej manifestácii spavosti pri narkolepsii 1. typu, Kleinovom-Levinovom syndróme, epilepsii, sclerosis multiplex a osmotickom demyelinizačnom syndróme, dokladuje uplatnenie diagnostických a terapeutických možností v praxi.
Daytime sleepiness (DS) poses a serious risk to the affected individual in the form of difficult employment and reduced quality of life and, depending on its cause, also metabolic and cardiovascular consequences. The work analyzes the nature of sleepiness depending on its cause, diagnostic procedures and therapeutic options. On the example of five case reports points out the differences in clinical manifestation of sleepiness in narcolepsy type 1, Klein-Levin syndrome, epilepsy, multiple sclerosis and osmotic demyelinating syndrome, it demonstrates the application of diagnostic and therapeutic options in clinical practice.
- MeSH
- antikonvulziva aplikace a dávkování terapeutické užití MeSH
- kombinovaná farmakoterapie MeSH
- lidé středního věku MeSH
- lidé MeSH
- refrakterní epilepsie * chirurgie farmakoterapie komplikace MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- zprávy MeSH
OBJECTIVE: Lyme disease (LD) is chronic, multi-system zoonosis transmitted by ticks, and LD aetiological agents are spirochetes of the Borrelia burgdorferi sensu lato complex. The aim of the cross-sectional study was to analyze the LD incidence on the basis of the presence of specific antibodies in the serum of patients in Eastern Slovakia, and to compare the results of serological ELISA and immunoblot assays. METHODS: Venous blood with questionnaires was obtained by field sampling of respondents from Eastern Slovakia. Overall, we examined 537 human sera by the ELISA and for confirmation we tested all positive IgG antibodies against the Borrelia immunoblot assay. RESULTS: Our results confirmed the high serum prevalence of anti-Borrelia antibodies (17.9% for IgG), while the immunoblot seropositive test was confirmed in 69.8% of responders from ELISA IgG positive sera. Positive antibodies of the IgM class were found in 7.6% of the population under study. Most commonly found were antibodies against VlsE (80.2%), p41 (66.7%), p18 (56.3%), p100 (41.7%), p58 (31.3%), and p39 (30.2%). CONCLUSION: It should be noted that detection of antibodies against B. burgdorferi s.l. is only an indirect evidence of the presence of this bacterium in the development of clinical signs of LD in humans. Laboratory LD tests should be performed in accordance with valid standards, positive and uncertain results must be confirmed by the Western Blot/Immunoblot assay.
- MeSH
- Borrelia burgdorferi komplex klasifikace izolace a purifikace MeSH
- Borrelia burgdorferi imunologie MeSH
- dítě MeSH
- dospělí MeSH
- ELISA MeSH
- imunoglobulin G krev MeSH
- imunoglobulin M krev MeSH
- incidence MeSH
- lidé středního věku MeSH
- lidé MeSH
- lymeská nemoc krev diagnóza epidemiologie mikrobiologie MeSH
- mladiství MeSH
- protilátky bakteriální krev MeSH
- protilátky virové krev MeSH
- průřezové studie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- séroepidemiologické studie MeSH
- zvířata MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Slovenská republika MeSH
