Lymeská borrelióza (LB) je multisystémové onemocnění, které kromě kůže, srdce a pohybového aparátu postihuje i centrální nervový systém. Řada kazuistik popisuje psychiatrické symptomy u pacientů trpících LB. Cílem tohoto článku je: 1. přiblížit psychiatrické veřejnosti současný pohled na epidemiologii, etiopatogenezi, diagnostiku a léčbu Lymeské borreliózy a její klinický průběh, 2. podat přehled nejčastěji se vyskytujících psychiatrických projevů Lymeské borreliózy, 3. nabídnout postup vyšetření při podezření na výskyt borreliové infekce u psychiatrických pacientů.

Lyme disease (LD) is a multisystemic illness that affects also the central nervous system. Number of case studies describe psychiatric manifestations in patients with LD. The aim of this article is to: 1. draw attention of mental health professionals to recent view on epidemiology, etiopathogenesis, diagnostics and therapy of Lyme disease and describe its clinical course, 2. give a review of the most common psychiatric disorders associated with Lyme disease, 3. offer diagnostic and therapeutical guidelines for management of Lyme disease in psychiatric patients.

• MeSH
• antibakteriální látky terapeutické užití   MeSH
• deprese patologie   MeSH
• duševní poruchy patologie   MeSH
• farmakoterapie metody   MeSH
• lymeská nemoc diagnóza   farmakoterapie   patologie   MeSH
• lymská neuroborelióza diagnóza   farmakoterapie   patologie   MeSH
• neurologické manifestace patologie   MeSH
• Publikační typ
• přehledy MeSH

Parkinsonova choroba (PCh) patrí spolu s demenciou s Lewyho telieskami (DLB) a multisystémovou atrofiou (MSA) k patologicky definovanej skupine ochorení – synukleinopatiam. Zdieľajú nielen spoločný patologický mechanizmus vzniku, ale aj niektoré klinické príznaky. Medzi časté patria aj poruchy spánku a bdenia, ktoré ďalej zhoršujú kvalitu života postihnutých pacientov, ale zvyšujú aj celkovú morbiditu a mortalitu.

Parkinson's disease (PD), along with dementia with Lewy bodies (DLB) and multisystem atrophy (MSA), belongs to a pathologically defined group of diseases – synucleinopathies. They share not only a common pathological mechanism of origin, but also some clinical signs. Also frequent are sleep-wake disorders that further impair the quality of life of those affected as well as increase the overall morbidity and mortality.

• MeSH
• demence s Lewyho tělísky komplikace   MeSH
• lidé MeSH
• multisystémová atrofie komplikace   MeSH
• Parkinsonova nemoc * komplikace   MeSH
• porucha chování v REM spánku etiologie   farmakoterapie   MeSH
• poruchy iniciace a udržování spánku * epidemiologie   etiologie   terapie   MeSH
• poruchy nadměrné spavosti * epidemiologie   etiologie   terapie   MeSH
• respirační zvuky MeSH
• syndrom neklidných nohou etiologie   farmakoterapie   MeSH
• syndromy spánkové apnoe epidemiologie   etiologie   MeSH
• Check Tag
• lidé MeSH

BACKGROUND: Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children. RESULTS: Five children had sideroblastic anemia with increased numbers of ring sideroblasts >15%. Two of the children had a fatal course of MLASA1 syndrome (mitochondrial myopathy, lactic acidosis, and sideroblastic anemia [SA]) due to a homozygous, 6-kb deletion in the PUS1 gene, part of the six-member family of pseudouridine synthases (pseudouridylases). Large homozygous deletions represent a novel cause of presumed PUS1-loss-of-function phenotype. The other three children with SA had Pearson syndrome (PS) due to mtDNA deletions of 4 to 8 kb; two of these children showed early onset of PS and died due to repeated sepsis; the other child had later onset of PS and survived as the hematological parameters normalized and the disease transitioned to Kearns-Sayre syndrome. In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with failure to thrive, microcephaly, developmental delay, hypertrophic cardiomyopathy, and renal tubular acidosis due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor. CONCLUSIONS: Sideroblastic anemia was found in fewer than 1.2% of patients with multisystem mitochondrial disease, and it was usually associated with an unfavorable prognosis.

• MeSH
• acyl-CoA-dehydrogenasa s dlouhým řetězcem nedostatek   genetika   metabolismus   MeSH
• dítě MeSH
• lidé MeSH
• mitochondriální nemoci * genetika   metabolismus   patologie   MeSH
• nemoci svalů * genetika   metabolismus   patologie   MeSH
• předškolní dítě MeSH
• přetížení železem * genetika   metabolismus   patologie   MeSH
• sideroblastická anemie * genetika   metabolismus   patologie   MeSH
• syndrom MELAS * genetika   metabolismus   MeSH
• vrozené poruchy metabolismu tuků * genetika   metabolismus   patologie   MeSH
• vrozené syndromy selhání kostní dřeně MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Chondrodysplasia punctata represents clinically and genetically a heterogeneous group of disorders characterized by the presence of multiple congenital anomalies and stippled epiphyses. We present clinical course of the disease and the results of metabolic, X-ray and molecular analyses in 19-months old girl with X-linked dominant chondrodysplasia punctata with intrauterine growth retardation, craniofacial dysmorphy, cataracts, cutaneous anomalies including ichthyosis, asymmetric rhizomesomelic shortness of the limbs, deformity of the spine, club foot, polydactyly, syndactyly, epiphyseal stippling and low cholesterol (2.29 mmol/l). Spectrophotometric analysis revealed the presence of abnormal pattern of cholesterol precursors in blood. The increased level of 8-dehydrocholesterol (42.2 µmol/l, controls < 1) and 7-dehydrocholesterol (25.5 µmol/l, controls < 1) recognised with GC/MS suggested an endogenous defect of cholesterol biosynthesis. The diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) was confirmed by the molecular analysis. Sequencing of the EBP gene encoding for 3ß-hydroxysteroid-?8, ?7-isomerase revealed the presence of “de novo” heterozygous mutation c.327C>T (p.Arg110Stop). High cholesterol diet normalized cholesterol level (3.28 mmol/l) but it had no influence on the unfavourable prognosis of the disease. Low level of cholesterol with abnormal sterol profile in a child with congenital development anomalies represent an important laboratory marker suggesting an inherited defect of cholesterol biosynthesis.

• MeSH
• cholesterol biosyntéza   nedostatek   škodlivé účinky   MeSH
• chondrodysplasia punctata diagnóza   etiologie   MeSH
• dehydrocholesteroly izolace a purifikace   škodlivé účinky   MeSH
• diagnostické zobrazování metody   využití   MeSH
• finanční podpora výzkumu jako téma MeSH
• ichtyóza komplikace   MeSH
• kojenec MeSH
• spektrofotometrie využití   MeSH
• Check Tag
• kojenec MeSH
• Publikační typ
• kazuistiky MeSH

Magnetická rezonancia (MR) je štandardnou súčasťou diferenciálne diagnostického procesu u pacientov s extrapyramídovými ochoreniami, pričom po vylúčení poliekového, toxického alebo funkčného pôvodu ťažkostí zvykne byť prvým štandardným krokom v ďalšom diagnostickom procese. V tomto článku budú bližšie prediskutované nálezy, ktoré s pomerne veľkou pravdepodobnosťou poukazujú na špecifické ochorenia pri danej klinickej fenomenológii, rozdelené na parkinsonské syndrómy, ochorenia asociované s akumuláciou kovov v mozgu (železo, mangán, meď) a ostatné ochorenia s typickými MR nálezmi vrátane Huntingtonovej choroby, syndrómu tremoru/ataxie asociovaného s fragilným X chromozómom (FXTAS) a hemichorey pri hyperglykémii.

Magnetic resonance imaging (MRI) is a standard part of the differential diagnostic process in movement disorders and is typically performed as the first diagnostic step after excluding drug-induced, toxic or functional origin of the disorder. This review discusses MRI findings which are rather typical for different movement disorders in combination with a specific clinical phenomenology divided into three subcategories: atypical parkinsonism, disorders associated with brain metal accumulation (iron, manganese and copper) and other movement disorders.

• MeSH
• Creutzfeldtova-Jakobova nemoc diagnostické zobrazování   diagnóza   MeSH
• hepatolentikulární degenerace diagnostické zobrazování   diagnóza   MeSH
• Huntingtonova nemoc diagnostické zobrazování   diagnóza   MeSH
• magnetická rezonanční tomografie metody   MeSH
• multisystémová atrofie diagnostické zobrazování   diagnóza   MeSH
• nemoci bazálních ganglií * diagnostické zobrazování   diagnóza   MeSH
• neuroaxonální dystrofie diagnostické zobrazování   diagnóza   MeSH
• parkinsonské poruchy * diagnostické zobrazování   diagnóza   MeSH
• poruchy metabolismu železa diagnostické zobrazování   diagnóza   MeSH
• progresivní supranukleární obrna diagnostické zobrazování   diagnóza   MeSH
• syndrom fragilního X diagnostické zobrazování   diagnóza   MeSH

Intracellular trafficking involves an intricate machinery of motor complexes, including the dynein complex, to shuttle cargo for autophagolysosomal degradation. Deficiency in dynein axonemal chains, as well as cytoplasmic light and intermediate chains, have been linked with ciliary dyskinesia and skeletal dysplasia. The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons. Dominant pathogenic variants in DYNC1H1 have been previously implicated in peripheral neuromuscular disorders (NMD) and neurodevelopmental disorders (NDD). As heavy-chain dynein is ubiquitously expressed, the apparent selectivity of heavy chain dyneinopathy for motor neuronal phenotypes remains currently unaccounted for. Here, we aimed to evaluate the full DYNC1H1-related clinical, molecular and imaging spectrum, including multisystem features and novel phenotypes presenting throughout life. We identified 47 cases from 43 families with pathogenic heterozygous variants in DYNC1H1 (aged 0-59 years) and collected phenotypic data via a comprehensive standardized survey and clinical follow-up appointments. Most patients presented with divergent and previously unrecognized neurological and multisystem features, leading to significant delays in genetic testing and establishing the correct diagnosis. Neurological phenotypes include novel autonomic features, previously rarely described behavioral disorders, movement disorders and periventricular lesions. Sensory neuropathy was identified in nine patients (median age of onset 10.6 years), of which five were only diagnosed after the second decade of life, and three had a progressive age-dependent sensory neuropathy. Novel multisystem features included primary immunodeficiency, bilateral sensorineural hearing loss, organ anomalies and skeletal manifestations, resembling the phenotypic spectrum of other dyneinopathies. We also identified an age-dependent biphasic disease course with developmental regression in the first decade and, following a period of stability, neurodegenerative progression after the second decade of life. Of note, we observed several cases in whom neurodegeneration appeared to be prompted by intercurrent systemic infections with double-stranded DNA viruses (Herpesviridae) or single-stranded RNA viruses (Ross River fever, SARS-CoV-2). Moreover, the disease course appeared to be exacerbated by viral infections regardless of age and/or severity of neurodevelopmental disorder manifestations, indicating a role of dynein in anti-viral immunity and neuronal health. In summary, our findings expand the clinical, imaging and molecular spectrum of pathogenic DYNC1H1 variants beyond motor neuropathy disorders and suggest a life-long continuum and age-related progression due to deficient intracellular trafficking. This study will facilitate early diagnosis and improve counselling and health surveillance of affected patients.

• MeSH
• cytoplazmatické dyneiny * genetika   MeSH
• dítě MeSH
• dospělí MeSH
• fenotyp MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• neurovývojové poruchy genetika   MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Although speech disorder is frequently an early and prominent clinical feature of Parkinson's disease (PD) as well as atypical parkinsonian syndromes (APS) such as progressive supranuclear palsy (PSP) and multiple system atrophy (MSA), there is a lack of objective and quantitative evidence to verify whether any specific speech characteristics allow differentiation between PD, PSP and MSA. Speech samples were acquired from 77 subjects including 15 PD, 12 PSP, 13 MSA and 37 healthy controls. The accurate differential diagnosis of dysarthria subtypes was based on the quantitative acoustic analysis of 16 speech dimensions. Dysarthria was uniformly present in all parkinsonian patients but was more severe in PSP and MSA than in PD. Whilst PD speakers manifested pure hypokinetic dysarthria, ataxic components were more affected in MSA whilst PSP subjects demonstrated severe deficits in hypokinetic and spastic elements of dysarthria. Dysarthria in PSP was dominated by increased dysfluency, decreased slow rate, inappropriate silences, deficits in vowel articulation and harsh voice quality whereas MSA by pitch fluctuations, excess intensity variations, prolonged phonemes, vocal tremor and strained-strangled voice quality. Objective speech measurements were able to discriminate between APS and PD with 95% accuracy and between PSP and MSA with 75% accuracy. Dysarthria severity in APS was related to overall disease severity (r = 0.54, p = 0.006). Dysarthria with various combinations of hypokinetic, spastic and ataxic components reflects differing pathophysiology in PD, PSP and MSA. Thus, motor speech examination may provide useful information in the evaluation of these diseases with similar manifestations.

• MeSH
• lidé středního věku MeSH
• lidé MeSH
• longitudinální studie MeSH
• multisystémová atrofie komplikace   MeSH
• Parkinsonova nemoc komplikace   MeSH
• poruchy řeči klasifikace   diagnóza   etiologie   MeSH
• progresivní supranukleární obrna komplikace   MeSH
• retrospektivní studie MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Background: Transcranial sonography (TCS) in the B-mode has the ability to image, infratentorial and supratentorialbrain structures. For this reason, it has potential use in the diagnosis and diff erential diagnosis of various intracranialpathologies.Methods and Results: The authors reviewed the contribution of TCS to the diff erentiation of a number of neurodegenerativediseases: in parkinsonian syndromes, TCS can evaluate echogenicity changes in specifi c structures such asthe hyperechogenic area of the substantia nigra (SN) in Parkinson’s disease and the hyperechogenic caudate nucleusin Huntington’s disease as well as the hyperechogenic lentiform nucleus (LN) in dystonia and Wilson’s disease. Inparkinson-plus syndromes, TCS may detect changes in width of the third ventricle and of the frontal horns of thelateral ventricle. The hyperechogenic SN can also be used in healthy populations as a marker of subclinical injury tothe nigrostriatal system.Conclusion: TCS is a quick, safe and non-invasive method. It could be helpful in diff erentiation between severalmovement disorders together with clinical examination and other neuroimaging methods.

• MeSH
• demence s Lewyho tělísky diagnóza   patofyziologie   MeSH
• diferenciální diagnóza MeSH
• dystonie diagnóza   etiologie   patofyziologie   MeSH
• esenciální tremor diagnóza   etiologie   patofyziologie   MeSH
• hepatolentikulární degenerace diagnóza   patofyziologie   MeSH
• lidé MeSH
• multisystémová atrofie diagnóza   patofyziologie   MeSH
• Parkinsonova nemoc sekundární diagnóza   etiologie   patofyziologie   MeSH
• Parkinsonova nemoc diagnóza   patofyziologie   MeSH
• parkinsonské poruchy diagnóza   patofyziologie   MeSH
• pohybové poruchy diagnóza   etiologie   ultrasonografie   MeSH
• progresivní supranukleární obrna diagnóza   etiologie   patofyziologie   MeSH
• spinocerebelární ataxie diagnóza   patofyziologie   MeSH
• substantia nigra patofyziologie   patologie   MeSH
• syndrom neklidných nohou diagnóza   patofyziologie   MeSH
• ultrasonografie dopplerovská transkraniální metody   využití   MeSH
• Check Tag
• lidé MeSH

• MeSH
• lidé MeSH
• mitochondriální nemoci * MeSH
• sideroblastická anemie * MeSH
• syndrom MELAS * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH
• komentáře MeSH
• práce podpořená grantem MeSH

choroby spôsobené nedostatočnou aktivitou niektorého z lyzozómových enzýmov, poruchou transportného proteínu či enzýmového aktivátora. Prvé príznaky ochorenia sa môžu objaviť kedykoľvek od novorodeneckého obdobia až po dospelosť. Včasné formy mávajú ťažký priebeh s rýchlou progresiou a infaustnou prognózou. V dospelosti môže mať začiatok choroby miernejší priebeh, ktorý však bez liečby ústi do závažného ochorenia. Postihnutie je multisystémové s trvalou progresiou klinických ťažkostí, s postihnutím najmä metabolicky aktívnych tkanív a orgánov: kostná dreň, pečeň, kosti, kostrové svalstvo, myokard či centrálny nervový systém. Pri úvodnom biochemickom vyšetrení krvi pacienta môže byť zistená dyslipoproteinémia, ktorá ak nie je posudzovaná spolu s ďalšími klinickými príznakmi u pacienta, môže oddialiť stanovenie správnej diagnózy. Autori vo svojej práci poukazujú na niektoré lyzozómové ochorenia spojené s dyslipoproteinémiou, ktoré už dnes patria medzi liečiteľné choroby. Popisujú klinický obraz, dostupnú diagnostiku a aktuálnu liečbu týchto vrodených metabolických porúch.

Lysosomal storage disorders (LSDs) belong to group of rare, inborn, inherited diseases. They are caused by insufficient activity of certain lysosomal enzymes, by error of a transport protein or by malfunction of an enzymatic activator. Onset of symptoms occur anytime from infancy until adulthood. Early onset forms of disorders are commonly linked with severe natural course, quick progression of organ failure and with generally poor prognosis. Late onset of disorder, during adulthood, is commonly linked with mild form of disease. Without appropriate therapy they also lead to sever organ failure. Natural course of these disorders is multisystemic with progression of clinical impairments. The most affected are metabolic active tissues and organs: bone marrow, liver, bones, muscles, myocardium or central nervous system. Although dyslipoproteinemia is a common finding during routine biochemical screening it is often overseen and can prolong the time needed for establishing the right diagnosis. Authors of this paper are discussing some of the LSD connected with dyslipoproteinemia, which are currently treatable. They are describing clinical presentation, diagnostic procedures and actual therapeutic approaches of inborn errors of metabolism.

• MeSH
• dyslipidemie etiologie   MeSH
• enzymová substituční terapie MeSH
• Fabryho nemoc etiologie   terapie   MeSH
• Gaucherova nemoc klasifikace   patologie   terapie   MeSH
• lidé MeSH
• lyzozomální střádavé nemoci v nervovém systému * diagnóza   klasifikace   terapie   MeSH
• Niemannova-Pickova nemoc typu C etiologie   patofyziologie   MeSH
• sfingolipidy metabolismus   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH