Publications by authors named "Holubova A"

Temporal trends for concentrations of mercury (Hg), lead (Pb) and cadmium (Cd) were evaluated from year 2000-2020 in 20 (Hg), 23 (Pb) and 11 (Cd) watercourses in remote forest catchments in Europe. Decreasing trends were observed in 15% (Hg), 39% (Pb) and 45% (Cd) of the watercourses during the period of evaluation. Decreasing trends were mainly observed between 2000 and 2005 for Hg and between 2000 and 2015 for Pb and Cd.

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Non-healing wounds are usually colonised and contaminated by different types of bacteria. An alternative to antibiotic treatment in patients with infected wounds with local signs of inflammation may be medical grade honey (MGH). MGH has antioxidant, antimicrobial, anti-inflammatory, and immunomodulatory features.

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Background: Today's diabetes-oriented telemedicine systems can gather and analyze many parameters like blood glucose levels, carbohydrate intake, insulin doses, and physical activity levels (steps). Information collected can be presented to patients in a variety of graphical outputs. Despite the availability of several technical means, a large percentage of patients do not reach the goals established in their diabetes treatment.

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Fitness trackers could represent an easy-to-use and cheap tool for continuous tracking of physical activity of stroke survivors during the period of their recovery at home. The aim of the study was to examine the accuracy of the Fitbit activity tracker in locomotor activity monitoring of stroke survivors with respect to gait disorders, walking speed, walking aid, and placement of the tracker on body. Twenty-four ambulatory stroke survivors (15 men and 9 women) with locomotion/gait disorder were involved in the study.

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Article Synopsis
  • - KBG syndrome (KBGS) is marked by unique facial features, short stature, and varied clinical symptoms, with a significant portion of individuals experiencing intellectual disability and epilepsy.
  • - A recent European study examined 49 KBGS patients using advanced genetic testing to understand the syndrome better, revealing common traits like dental anomalies and skeletal issues alongside neurological concerns.
  • - The findings suggest that clinicians should be aware of a broader range of symptoms, especially dental and palatal abnormalities, and include specific genetic testing for more accurate diagnosis and management of KBGS.
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Non-healing wounds are usually colonised by various types of bacteria. An alternative to antibiotic treatment in patients with infected wounds with local signs of inflammation may be medical-grade honey (MGH), which favourably affects the healing process with its antimicrobial, antioxidant, anti-inflammatory, and immunomodulatory properties. The objective of this study was to evaluate the effect of MGH therapy on the healing process of non-healing wounds of various aetiologies and different wound colonisations.

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The ketogenic diet (KD) is an effective treatment for intractable epilepsy in children. Hypoglycemia can be one of its side-effects, which is considered to be present mainly during the introductory phase of KD. Continuous glucose monitoring in a 6-year old non-diabetic child treated with KD for more than 8 months revealed long periods of asymptomatic hypoglycemia (8.

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Mobile and wearable technologies offer patients with diabetes mellitus new possibilities for data collection and their more effective analysis. The Diabesdagboga smartphone application and the Diani web portal enable to collect and analyze glycaemia values, carbohydrates intake, insulin doses and the level of physical activity. The data are not only accessible in the corresponding smartphone but also automatically transferred to an Internet portal, where they may be completed by the records from an electronic pedometer and continuous glucose monitor.

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Background: Type 1 diabetes is a chronic condition of blood glucose metabolic disorder caused by a lack of insulin secretion from pancreas cells. In people with type 1 diabetes, hyperglycemia often occurs upon infection incidences. Despite the fact that patients increasingly gather data about themselves, there are no solid findings that uncover the effect of infection incidences on key parameters of blood glucose dynamics to support the effort toward developing a digital infectious disease detection system.

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Background: For most of the >2000 CFTR gene variants reported, neither the associated disease liability nor the underlying basic defect are known, and yet these are essential for disease prognosis and CFTR-based therapeutics. Here we aimed to characterize two ultra-rare mutations - 1717-2A > G (c.1585-2A > G) and S955P (p.

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Background: Despite the fact there are many wearable and mobile medical devices that enable patients to better self-manage their diabetes, not many patients are aware of all the options they have. In addition, there are those who are not fully satisfied with the devices they use, and those who often do not use them effectively.

Objective: The study aimed to propose possible changes to the combination of devices used by 6 specific patients for diabetes self-management.

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Article Synopsis
  • The study focuses on presymptomatic detection of rare diseases (RD) in neonates through newborn screening (NBS) in the Czech Republic, which currently screens for eighteen specific RDs.
  • An analysis of data from 888,891 newborns between 2010 and 2017 found an overall prevalence of RD at 1 in 1,043, with varying frequencies for specific conditions.
  • The results indicate that while the prevalence of most RDs aligns with expectations, conditions like biotinidase deficiency (BTD) were found to be more common, and maple syrup urine disease (MSUD) was less common than anticipated.
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Methamphetamine (MA) is an addictive psychostimulant, often abused by drug-addicted women during pregnancy. The offspring of drug-addicted mothers are often exposed to perinatal stressors. The present study examines the effect of perinatal stressors and drug exposure on plasma oxytocin (OXY) levels in female progeny.

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Background: Type-1 diabetes is a condition caused by the lack of insulin hormone, which leads to an excessive increase in blood glucose level. The glucose kinetics process is difficult to control due to its complex and nonlinear nature and with state variables that are difficult to measure.

Methods: This paper proposes a method for automatically calculating the basal and bolus insulin doses for patients with type-1 diabetes using reinforcement learning with feedforward controller.

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Methamphetamine (MA) is the most abused "hard" illicit drug in the Czech Republic. Drugs abused during pregnancy are not hazardous merely to the mother, but also to developing fetuses. The offspring of drug-addicted mothers are also often exposed to perinatal stressors that may impair brain development of affected progeny.

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Neonates with low birthweight (LBW) represent a vulnerable population. This retrospective study analyzed the birth frequency of diseases detected by neonatal screening (NBS) in normal and LBW neonates in the Czech Republic. Between years 2002 and 2016, the number of screened disorders in the Czech Republic gradually increased from two to 13.

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It has been shown that early life traumatic events strongly alter the physiology and behavior in adult rats. In the present study, the effect of postnatal stressor on the spontaneous behavior of adult male rats was evaluated. A method of positive habituation based on a detailed analysis of behavioral patterns and attention of animals to a stimulus object was used.

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Methamphetamine (MA) is an addictive psychostimulant with significant potential for abuse. Previous rat studies have demonstrated that MA use during pregnancy impairs maternal behavior and induced delayed development of affected pups. The offspring of drug-addictive mothers were often neglected and exposed to neonatal stressors.

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Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical geneticists. Herein we present molecular genetic findings of causal genetic variation using array comparative genome hybridization and a Mendeliome analysis, utilizing targeted exome analysis focusing on regions harboring rare disease-causing variants in Kabuki-like patients which remained KMT2D/KDM6A-negative.

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Activation of the hypothalamic-pituitary-adrenal (HPA) axis is important for maintenance of homeostasis during stress. Recent studies have shown a connection between the HPA axis and adipose tissue. The present study investigated the effect of acute heterotypic stress on plasma levels of adrenocorticotropic hormone (ACTH), corticosterone (CORT), leptin, and ghrelin in adult male rats with respect to neonatal maternal social and physical stressors.

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Aim: The aim of our study was to evaluate the outcome of cataract surgeries with implantation of intraocular trifocal toric lens, and to study the accuracy of astigmatism correction, lens rotational stability, and safety of the procedures.

Patients And Methods: Our study comprised 22 eyes of 16 patients who underwent unilateral or bilateral implantation of AT LISA tri toric 939MP, or its implantation in combination with AT LISA tri 839MP. Mean patient age was 58 ± 11 years (39 to 75 years).

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Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort of 14 Czech cases with clinical features suggestive of KS was analyzed by experienced clinical geneticists in collaboration with other specialties, and observed disease features were evaluated according to the 'MLL2-Kabuki score' defined by Makrythanasis et al. Subsequently, the aforementioned genes were Sanger sequenced and copy number variation analysis was performed by MLPA, followed by genome-wide array CGH testing.

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Background: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic.

Methods: We examined the most common CF-causing mutations using the Elucigene CF-EU2v1™ assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions.

Results: We identified 99.

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Unlabelled: Cystic fibrosis (CF) is a life-threatening disease for which early diagnosis following newborn screening (NBS) improves the prognosis. We performed a prospective assessment of the immunoreactive trypsinogen (IRT)/DNA/IRT protocol currently in use nationwide, versus the IRT/pancreatitis-associated protein (PAP) and IRT/PAP/DNA CF NBS protocols. Dried blood spots (DBS) from 106,522 Czech newborns were examined for IRT concentrations.

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