BACKGROUND: Neurovascular conflict between the oculomotor nerve and a posterior circulation cerebral artery is a relatively frequent radiologic finding; however, it manifests minimally clinically (by slower photoreaction on the ipsilateral side). Sustained paresis of the oculomotor nerve that arose directly due to neurovascular conflict between the superior cerebral artery (SCA) and the oculomotor nerve, and resolved after microvascular decompression, is extremely rare and has not yet been published. METHODS: A 34-year-old female patient presented with an advancing ptosis and downward gaze on one side. Differential diagnostics ruled out all other causes of the oculomotor paresis. Magnetic resonance imaging showed significant compression of the oculomotor nerve by an aberrant SCA on the ipsilateral side. Neurovascular decompression performed microsurgically resulted in near complete resolution of the symptoms. RESULTS: This case report aims to present a case of a rare clinical condition caused by a generally common anatomical variation. This variation proved to be the only cause of the patient's symptoms, which resolved after microsurgical restoration of the neuroanatomy. CONCLUSIONS: Oculomotor nerve paresis caused directly by neurovascular conflict is an extremely rare diagnosis. Microvascular decompression should be considered in these cases, if other causes have been excluded.

• MeSH
• Adult MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Microvascular Decompression Surgery methods   MeSH
• Cerebellum * blood supply   MeSH
• Oculomotor Nerve Diseases * etiology   surgery   MeSH
• Oculomotor Nerve * surgery   MeSH
• Paresis * etiology   surgery   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH

Navrhovaný projekt staví na dlouhodobém výzkumu naší skupiny v oblasti chronické lymfocytární leukémie (CLL). Projekt si klade za cíl prohloubit naše znalosti a lépe porozumět mechanismům klonální evoluce CLL buněk v průběhu onemocnění. Pro detailní charakterizaci nádorových buněk a sledování agresivních klonů v průběhu progrese onemocnění chceme využít moderní přístup analýzy na úrovni jednotlivých buněk (SCA). Budeme srovnávat transkriptomy tisíců CLL buněk získaných z opakovaných odběrů pacientů s relaps/refrakterní CLL (R/R CLL) což je onemocnění, které neodpovídá na léčbu nebo u něho dochází k progresi/relapsu dříve než za šest měsíců. R/R CLL reprezentuje významnou podskupinu onemocnění, která si zaslouží pozornost vzhledem k špatné prognóze onemocnění. Porozumění molekulárním mechanismům vedoucím k rozvoji R/R CLL umožní výběr nejvhodnější léčebné strategie, zvlášť v souvislosti s rychlým vývojem cílené léčby v poslední době.; The proposed project builds on our continuous well-established research on chronic lymphocytic leukemia (CLL). In this study, we would like to profound our knowledge to better understand the mechanisms underlying clonal evolution of CLL cells during the disease course. We will employ a challenging approach a single cell analysis (SCA) for detailed characterisation of malignant cells on single cell level with aim to monitor disease progression and to detect the most aggressive subclones of CLL. In particular, we will analyse and compare transcriptomes of thousands of CLL cells from consecutively collected samples of patients suffering from early relapsed/refractory disease (R/R CLL), which is defined by non-response to treatment or relapse within six months after therapy. Thus, R/R CLL represents a highly challenging subtype of disorder with very poor prognosis and deserves further attention. A deeper understanding of molecular mechanisms driving R/R CLL can help to select the best treatment approach, especially from the growing spectrum of targeted therapy.

• Keywords
• klonální evoluce, chronic lymphocytic leukemia, clonal evolution, Chronická lymfocytární leukémie, single cell analysis, Single cell analýza,

• NML Publication type
• závěrečné zprávy o řešení grantu AZV MZ ČR

Vysokoškolská učebnice, která se zaměřuje na neurologii.; Učebnice obecné a speciální neurologie pro vysokoškolské studenty.

• MeSH
• Neurology MeSH

• Conspectus
• Patologie. Klinická medicína
• Učební osnovy. Vyučovací předměty. Učebnice
• NML Fields
• neurologie
• NML Publication type
• učebnice vysokých škol

BACKGROUND AND OBJECTIVES: The relevance of the use of intra-aortic balloon pump (IABP) in cardiogenic shock (CS) has been discussed over the past years. The aim of this study is to describe a single-centre 10-year experience with IABP and analyse the risk factors for 30-day mortality. METHODS: The data for this single-centre, observational, retrospective study were drawn from records dated from January 2012 to May 2022 pertaining to patients presenting with CS, treated with IABP and hospitalised at the Department of Acute Cardiology, Institute for Clinical and Experimental Medicine, Prague. RESULTS: Among the patients included in the study, 87% patients presented with newly developed heart failure. The leading cause of CS was acute myocardial infarction accounting for 86% of cases. Hospital mortality was recorded at 39% and the 30-day mortality reached 43%. Upon multi-variable analysis, only the vasoactive inotropic score on day 5 emerged as a statistically significant predictor for 30-day mortality (p=0.0055). Cox regression analysis revealed that the presence of mechanical complications was the only variable identified as yielding a statistically significant impact on the 30-day survival (Log-rank p=0.014, HR 2.19, 95% CI: 1.15‒4.15). There was no statistically significant difference in the 30-day mortality across the SCAI classes. CONCLUSION: The main cause of CS was a newly developed acute heart failure secondary to acute myocardial infarction. Despite the implementation of mechanical circulatory support, both in-hospital and 30-day mortality rates remained high. Increased vasoactive inotropic score and presence of mechanical complications were identified as significant predictors the 30-day survival (Tab. 6, Fig. 1, Ref. 36).

Characterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over time, reduced examiner dependency, and sensitivity to subtle changes. To delineate the potential of quantitative oculomotor assessments as digital-motor outcome measures for clinical trials in ataxia, we searched MEDLINE for articles reporting on quantitative eye movement recordings in genetically confirmed or suspected hereditary ataxias, asking which paradigms are most promising for capturing disease progression and treatment response. Eighty-nine manuscripts identified reported on 1541 patients, including spinocerebellar ataxias (SCA2, n = 421), SCA3 (n = 268), SCA6 (n = 117), other SCAs (n = 97), Friedreich ataxia (FRDA, n = 178), Niemann-Pick disease type C (NPC, n = 57), and ataxia-telangiectasia (n = 85) as largest cohorts. Whereas most studies reported discriminatory power of oculomotor assessments in diagnostics, few explored their value for monitoring genotype-specific disease progression (n = 2; SCA2) or treatment response (n = 8; SCA2, FRDA, NPC, ataxia-telangiectasia, episodic-ataxia 4). Oculomotor parameters correlated with disease severity measures including clinical scores (n = 18 studies (SARA: n = 9)), chronological measures (e.g., age, disease duration, time-to-symptom onset; n = 17), genetic stratification (n = 9), and imaging measures of atrophy (n = 5). Recurrent correlations across many ataxias (SCA2/3/17, FRDA, NPC) suggest saccadic eye movements as potentially generic quantitative oculomotor outcome. Recommendation of other paradigms was limited by the scarcity of cross-validating correlations, except saccadic intrusions (FRDA), pursuit eye movements (SCA17), and quantitative head-impulse testing (SCA3/6). This work aids in understanding the current knowledge of quantitative oculomotor parameters in hereditary ataxias, and identifies gaps for validation as potential trial outcome measures in specific ataxia genotypes.

• MeSH
• Ataxia MeSH
• Friedreich Ataxia * MeSH
• Genotype MeSH
• Humans MeSH
• Eye Movements MeSH
• Disease Progression MeSH
• Spinocerebellar Degenerations * MeSH
• Ataxia Telangiectasia * MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH

• Publication type
• Meeting Abstract MeSH

Příručka, která se zaměřuje na různé aspekty kardiovaskulárních nemocí. Určeno odborníkům v praxi.; souhrnně zpracované poznatky z rozsáhlého a dynamicky se rozvíjejícího lékařského oboru. Kniha proto záměrně nerozebírá historii a patofyziologii jednotlivých kardiologických onemocnění, ale naopak stručně a za použití minimálního počtu slov předává čtenáři co největší objem současných informací z oborové praxe. Snahou autora bylo vytvořit publikaci aktuální, zahrnující recentní poznatky ze studií i publikovaných guidelines. Zhuštěný text je pro větší přehlednost a snadné vyhledávání informací doplněn tabulkami. Kniha je určena nejen nemocničním i ambulantním kardiologům, ale též praktickým lékařům a lékařům v příbuzných oborech, kteří mají o současnou kardiologii zájem.

• MeSH
• Cardiovascular Diseases MeSH
• Publication type
• Handbook MeSH

• Conspectus
• Patologie. Klinická medicína
• NML Fields
• kardiologie

Apart from its role in motor coordination, the importance of the cerebellum in cognitive and affective processes has been recognized in the past few decades. Spinocerebellar ataxias (SCA) and Friedreich ataxia (FRDA) are rare neurodegenerative diseases of the cerebellum presenting mainly with a progressive loss of gait and limb coordination, dysarthria, and other motor disturbances, but also a range of cognitive and neuropsychiatric symptoms. This narrative review summarizes the current knowledge on neuropsychiatric impairment in SCA and FRDA. We discuss the prevalence, clinical features and treatment approaches in the most commonly reported domains of depression, anxiety, apathy, agitation and impulse dyscontrol, and psychosis. Since these symptoms have a considerable impact on patients' quality of life, we argue that further research is mandated to improve the detection and treatment options of neuropsychiatric co-morbidities in ataxia patients.

• MeSH
• Friedreich Ataxia * complications   MeSH
• Comorbidity MeSH
• Quality of Life MeSH
• Humans MeSH
• Cerebellum MeSH
• Spinocerebellar Ataxias * MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

Many patients with spinocerebellar ataxia (SCA) suffer from diverse neuropsychiatric issues, including memory impairments, apathy, depression, or anxiety. These neuropsychiatric aspects contribute per se to the reduced quality of life and worse prognosis. However, the extent to which SCA-related neuropathology directly contributes to these issues remains largely unclear. Behavioral profiling of various SCA mouse models can bring new insight into this question. This paper aims to synthesize recent findings from behavioral studies of SCA patients and mouse models. The role of SCA neuropathology for shaping psychiatric-like impairments may be exemplified in mouse models of SCA1. These mice evince robust cognitive impairments which are shaped by both the cerebellar as well as out-of-cerebellar pathology. Although emotional-related alternations are also present, they seem to be less robust and more affected by the specific distribution and character of the neuropathology. For example, cerebellar-specific pathology seems to provoke behavioral disinhibition, leading to seemingly decreased anxiety, whereas complex SCA1 neuropathology induces anxiety-like phenotype. In SCA1 mice with complex neuropathology, some of the psychiatric-like impairments are present even before marked cerebellar degeneration and ataxia and correlate with hippocampal atrophy. Similarly, complete or partial deletion of the implicated gene (Atxn1) leads to cognitive dysfunction and anxiety-like behavior, respectively, without apparent ataxia and cerebellar degeneration. Altogether, these findings collectively suggest that the neuropsychiatric issues have a biological basis partially independent of the cerebellum. As some neuropsychiatric issues may stem from weakening the function of the implicated gene, therapeutic reduction of its expression by molecular approaches may not necessarily mitigate the neuropsychiatric issues.

• MeSH
• Cerebellar Ataxia * pathology   MeSH
• Cognitive Dysfunction * genetics   MeSH
• Quality of Life MeSH
• Cerebellum pathology   MeSH
• Mice MeSH
• Nervous System Diseases * MeSH
• Spinocerebellar Ataxias * MeSH
• Animals MeSH
• Check Tag
• Mice MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH