Publications by authors named "MACEK M"

Introduction: A recent study on patients with acute lower limb ischemia showed that the proportion of inadequate examination of lower extremity circulation was associated with higher rate of amputation and death. The aim of this systematic review was to explore evidence for how practical competence in performing a peripheral vascular status of the lower limb among medical students and junior doctors should be taught and examined.

Methods: The systematic review followed PRISMA guidelines and was published in PROSPERO.

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  • The Roma population, numbering between 10 to 14 million worldwide, faces unique genetic challenges due to a high level of consanguinity, resulting in specific hereditary diseases that are often underdiagnosed.
  • Recent clinical evaluations at the ERN CRANIO center in Prague have highlighted various rare genetic disorders, including congenital cataract syndrome and non-syndromic deafness linked to specific genetic mutations.
  • This study emphasizes the need for awareness and accurate diagnosis of dental issues that can aid in better treatment and management of these genetic conditions in the Czech Roma community.
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Climate change increases the frequency and severity of droughts in many parts of Europe, thereby affecting the availability of water resources. Therefore, preserving the soil water content is essential for maintaining forest diversity and plant vitality. To improve soil hydraulic properties and reduce drought vulnerability, three xanthan-gum-based soil conditioners (SC_R, SC_CG, and SC_ZZC) were developed under the European ONEforest project.

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Background: The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families.

Case Presentation: Dental examinations were carried out.

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Purpose: To present a case of high-impact perforating eye injury by knife throwing witnessed during a public performance and initially classified as penetrating eye injury.

Observations: During the second reconstructive procedure an exit wound was identified, which had been missed during primary wound repair due to extensive swelling of adjacent soft tissue. The occult exit wound could be sealed and the retina attached under silicone oil.

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Biological nitrogen fixation is a fundamental part of ecosystem functioning. Anthropogenic nitrogen deposition and climate change may, however, limit the competitive advantage of nitrogen-fixing plants, leading to reduced relative diversity of nitrogen-fixing plants. Yet, assessments of changes of nitrogen-fixing plant long-term community diversity are rare.

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  • Climate change often leads to habitat shifts for species towards the poles, but other factors also play a significant role in determining species distribution.
  • A study on European forest plants shows that they are more likely to shift westward rather than northward, with westward movements being 2.6 times more common.
  • These shifts are primarily driven by nitrogen deposition and recovery from past pollution, indicating that biodiversity changes are influenced by multiple environmental factors, not just climate change alone.
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Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

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Soil moisture shapes ecological patterns and processes, but it is difficult to continuously measure soil moisture variability across the landscape. To overcome these limitations, soil moisture is often bioindicated using community-weighted means of the Ellenberg indicator values of vascular plant species. However, the ecology and distribution of plant species reflect soil water supply as well as atmospheric water demand.

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Aim: To utilize three-dimensional (3D) geometric morphometry for visualization of the level of facial asymmetry in patients with the oculo-auriculo-vertebral spectrum (OAVS).

Materials And Methods: Three-dimensional facial scans of 25 Czech patients with OAVS were processed. The patients were divided into subgroups according to Pruzansky classification.

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Gene therapy is gradually becoming a mainstream treatment modality and is no longer the preserve of large university departments whose laboratories master nucleic acid analytical procedures and whose clinical teams manage its administration. It was originally designed for genetic diseases that, because of their prevalence, were a group known as rare diseases. Gene therapy has so far been applied in children to act before the disease development.

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This is the final of four papers updating standards for the care of people with CF. That this paper "Planning a longer life" was considered necessary, highlights how much CF care has progressed over the past decade. Several factors underpin this progress, notably increased numbers of people with CF with access to CFTR modulator therapy.

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  • The study examined a large group of patients (1468) diagnosed with hypertrophic cardiomyopathy (HCM) to understand the relationship between genetic status (genotype positive [G+] or negative [G-]) and clinical outcomes over an average follow-up of 7.8 years.
  • It found no significant differences in mortality rates or adverse heart events between G+ and G- patients, indicating that genetic factors did not influence the clinical course of the disease.
  • The researchers concluded that genotype status should not guide clinical management or predictions regarding outcomes in HCM patients, with age being the only significant factor affecting mortality and heart failure progression.
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Background: Cystic fibrosis (CF) is a rare multi-systemic recessive disorder. The spectrum and the frequencies of CFTR mutations causing CF vary amongst different populations in Europe and the Middle East. In this study, we characterised the distribution of CF-causing mutations (i.

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Cluster analyzes of facial models of autistic patients aim to clarify whether it is possible to diagnose autism on the basis of facial features and further to stratify the autism spectrum disorder. We performed a cluster analysis of sets of 3D scans of ASD patients (116) and controls (157) using Euclidean and geodesic distances in order to recapitulate the published results on the Czech population. In the presented work, we show that the major factor determining the clustering structure and consequently also the correlation of resulting clusters with autism severity degree is body mass index corrected for age (BMIFA).

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Background: As antiretroviral therapy has become widely available and highly effective, HIV has evolved to a manageable, chronic disease. Despite this health advancement, people living with HIV (PLWH) are at an increased risk for age-related non-communicable diseases (NCDs) compared to HIV-uninfected individuals. Similarly, PLWH are at an increased risk for selected oral diseases.

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Purpose: Crohn's disease is a chronic gastrointestinal inflammatory disease with possible extraintestinal symptoms. There are predisposing genetic factors and even monogenic variants of the disorder. One of the possible genetic factors are variants of the DUOX2 gene.

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Biodiversity world-wide has been under increasing anthropogenic pressure in the past century. The long-term response of biotic communities has been tackled primarily by focusing on species richness, community composition and functionality. Equally important are shifts between entire communities and habitat types, which remain an unexplored level of biodiversity change.

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Background And Aims: Understanding biomass allocation among plant organs is crucial for comprehending plant growth optimization, survival and responses to the drivers of global change. Yet, the mechanisms governing mass allocation in vascular plants from extreme elevations exposed to cold and drought stresses remain poorly understood.

Methodology: We analysed organ mass weights and fractions in 258 Himalayan herbaceous species across diverse habitats (wetland, steppe, alpine), growth forms (annual, perennial taprooted, rhizomatous and cushiony) and climatic gradients (3500-6150 m elevation) to explore whether biomass distribution adhered to fixed allometric or optimal partitioning rules, and how variations in size, phylogeny and ecological preferences influence their strategies for resource allocation.

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Objectives: To create optimal oral and overall community health, dental public health (DPH) specialists must be competent and appropriately skilled to deal with contemporary and emergent public health issues. This study aims to evaluate the current job market demands related to the DPH profession and suggest contemporary skills and qualities that would enable DPH professionals to address emerging issues more effectively in their field.

Methods: A multimethod qualitative study was conducted involving two distinct groups: employers and potential employees.

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Plant communities are being exposed to changing environmental conditions all around the globe, leading to alterations in plant diversity, community composition, and ecosystem functioning. For herbaceous understorey communities in temperate forests, responses to global change are postulated to be complex, due to the presence of a tree layer that modulates understorey responses to external pressures such as climate change and changes in atmospheric nitrogen deposition rates. Multiple investigative approaches have been put forward as tools to detect, quantify and predict understorey responses to these global-change drivers, including, among others, distributed resurvey studies and manipulative experiments.

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Background: Genetic focal segmental glomerulosclerosis (FSGS) is caused by pathogenic variants in a broad spectrum of genes that have a variable representation based on subjects' ethnicity and/or age. The most frequently mutated autosomal recessive gene in FSGS is . In this study, we analyzed the spectrum of variants and their associated phenotype in Czech adult FSGS patients.

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Article Synopsis
  • Global change has led to notable shifts in plant species within European temperate forests, resulting in both losses and gains of unique evolutionary lineages.
  • The study analyzed 2672 vegetation plots over 40 years, finding that while overall phylogenetic diversity (PD) increased slightly, species lost were more closely related than those gained, suggesting that new species come from a wider range of lineages.
  • Specific plant families like Ericaceae and Fabaceae experienced significant losses, while Amaranthaceae and Rosaceae showed gains, but overall trends in species changes were not strongly linked to larger climatic or nitrogen conditions.
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Vagus nerve stimulation (VNS) is a therapeutic option in drug-resistant epilepsy. VNS leads to ≥ 50% seizure reduction in 50 to 60% of patients, termed "responders". The remaining 40 to 50% of patients, "non-responders", exhibit seizure reduction < 50%.

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