Regular physical activity is a very important factor in the healthy development of an individual and an essential part of a healthy lifestyle. However, today's population still suffers from an insufficient amount of exercise caused mainly by technological progress and often inappropriate conditions for practising sports. In relation to this, we are grappling with a steady increase in obesity. During the COVID-19 pandemic, conditions for regular physical activity became even more unfavourable, with the declaration of a state of emergency and antipandemic measures leading to the closure of sports grounds and sporting competitions. Using a questionnaire survey of a sample of children (n = 1456), we found that, already before the pandemic, 69% of the observed sample had not met the recommended amount of physical activity, and only 67% of the sample was of normal weight. By comparing both groups after the end of pandemic restrictions, we found statistically significant differences at examined indicators of the children's Body Mass Index (BMI), their physical activity, and free time spending habits. We noticed the significant differences in BMI indicators in two different categories, normal weight (7.5%) and stage 1 obesity (1.66%). Simultaneously, we noticed differences in the children's physical activities, especially with children who attend sports playgroups connected to athletic development (8.74%). More differences were noticed in free time spending habits indicators; the most significant ones were with the children who spend their free time behind the personal computer for more than 14 h a week (5.4%) and with the children who spend their free time on social media for 8-14 h a week (18.56%).
- MeSH
- COVID-19 * epidemiologie MeSH
- cvičení MeSH
- dítě MeSH
- index tělesné hmotnosti MeSH
- lidé MeSH
- pandemie MeSH
- SARS-CoV-2 MeSH
- školy MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
BACKGROUND: Congenital disorders of glycosylation (CDG) are inherited metabolic diseases caused by defects in the genes important for the process of protein and lipid glycosylation. With the ever growing number of the known subtypes and discoveries regarding the disease mechanisms and therapy development, it remains a very active field of study. SCOPE OF REVIEW: This review brings an update on the CDG-related research since 2017, describing the novel gene defects, pathobiomechanisms, biomarkers and the patients' phenotypes. We also summarize the clinical guidelines for the most prevalent disorders and the current therapeutical options for the treatable CDG. MAJOR CONCLUSIONS: In the majority of the 23 new CDG, neurological involvement is associated with other organ disease. Increasingly, different aspects of cellular metabolism (e.g., autophagy) are found to be perturbed in multiple CDG. GENERAL SIGNIFICANCE: This work highlights the recent trends in the CDG field and comprehensively overviews the up-to-date clinical recommendations.
- MeSH
- glykosylace MeSH
- lidé MeSH
- lipidy genetika MeSH
- metabolické sítě a dráhy MeSH
- metabolismus lipidů MeSH
- mutace MeSH
- proteiny genetika metabolismus MeSH
- vrozené poruchy glykosylace genetika metabolismus patologie terapie MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, d-galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.
- MeSH
- dospělí MeSH
- galaktosa terapeutické užití MeSH
- glykogenóza komplikace diagnóza farmakoterapie enzymologie MeSH
- hypoglykemie komplikace MeSH
- kardiomyopatie komplikace patologie MeSH
- kojenec MeSH
- konsensus MeSH
- lidé MeSH
- management nemoci * MeSH
- mezinárodní spolupráce MeSH
- nemoci svalů komplikace patologie MeSH
- rozštěp patra komplikace patologie MeSH
- Check Tag
- dospělí MeSH
- kojenec MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Research Support, N.I.H., Extramural MeSH
- směrnice pro lékařskou praxi MeSH
PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production. Cortisol and ACTH concentrations were simultaneously measured between 7:44 am to 1 pm in forty-three subjects (20 female, median age 12.8 years, range 0.1 to 48.6 years) participating in an ongoing international, multi-center Natural History study for PMM2-CDG (ClinicalTrials.gov Identifier: NCT03173300). Of the 43 subjects, 11 (25.6%) had cortisol below 5 μg/dl and low to normal ACTH levels, suggestive of secondary adrenal insufficiency. Two of the 11 subjects have confirmed central adrenal insufficiency and are on hydrocortisone replacement and/or stress dosing during illness; 3 had normal and 1 had subnormal cortisol response to ACTH low-dose stimulation test but has not yet been started on therapy; the remaining 5 have upcoming stimulation testing planned. Our findings suggest that patients with PMM2-CDG may be at risk for adrenal insufficiency. Monitoring of morning cortisol and ACTH levels should be part of the standard care in patients with PMM2-CDG.
- MeSH
- adrenální insuficience diagnóza etiologie patofyziologie MeSH
- dítě MeSH
- dospělí MeSH
- fosfotransferasy (fosfomutasy) krev genetika MeSH
- glykosylace MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- prospektivní studie MeSH
- rizikové faktory MeSH
- systém hypofýza - nadledviny fyziologie MeSH
- vrozené poruchy glykosylace MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
BACKGROUND: ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neonatal period. CASE PRESENTATION: A 23 months-old girl presented with severe developmental delay, epilepsy, cortical atrophy, cerebellar vermis hypoplasia and ocular impairment. Facial dysmorphism, clubfeet and multiple joint contractures were observed already at birth. Transferrin isoelectric focusing revealed a type 1 pattern. Funduscopy showed hypopigmentation and optic disc pallor. Profound retinal ganglion cell loss and inner retinal layer thinning was documented on spectral-domain optical coherence tomography imaging. The presence of optic nerve hypoplasia was also supported by magnetic resonance imaging. A gene panel based next-generation sequencing and subsequent Sanger sequencing identified compound heterozygosity for two novel variants c.116del p.(Pro39Argfs*40) and c.1060 C > T p.(Arg354Cys) in ALG3. CONCLUSIONS: Our study expands the spectrum of pathogenic variants identified in ALG3. Thirty-three variants in 43 subjects with ALG3-CDG have been reported. Literature review shows that visual impairment in ALG3-CDG is most commonly linked to optic nerve hypoplasia.
- MeSH
- degenerace retiny * MeSH
- fenotyp MeSH
- kojenec MeSH
- lidé MeSH
- mannosyltransferasy genetika MeSH
- novorozenec MeSH
- oči MeSH
- předškolní dítě MeSH
- vrozené poruchy glykosylace * genetika MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
- Publikační typ
- abstrakt z konference MeSH
Cílem práce bylo stanovit a porovnat rozdíl mezi soupažným během prostým a střídavým během dvoudobým z hlediska vnitřního zatížení a času ve dvou po sobě následujících dnech na kolečkových lyžích. Oba dny absolvovali probandi dva měřené úseky oběma způsoby klasické techniky, s tím, že polovina probandů začínala jedním způsobem běhu a druhá polovina druhým způsobem. Druhý den se skupiny vyměnily-křížové ověření. Terénní výzkum prováděný na základě porovnávání hodnot: laktátu (LA) a srdeční frekvence (SF) po zátěži, při uklidnění a času. Probandi absolvovali cca 8' výjezdy na kolečkových lyžích. Probandi: aktivní běžci na lyžích pravidelně se účastnící závodů Českého poháru v běhu na lyžích (n = 12, z toho 5 dívek, věk 17 ± 2 let). Výsledky prokázaly staticky významný rozdíl (p < 0,05) z hlediska času. Hodnoty LA byly statisticky významně nižší (p < 0,05) střídavého běhu něž u soupažného běhu.
The aim of the study is to determine and compare the difference between double poling and diagonal walking in terms of internal load and time in two consecutive days on roller skis. Each day probands participated in a classical style time trial, while one half of probands started with double poling and other with diagonal striding technique. The next day groups switched-Cross verification.Methods: Field research carried out on the basis a comparison of values: lactate (LA) and heart rate (SF) after load, during calm down and time. The probands completed about 8 minutes long part of uphill on roller skis. Probands: active cross-country skiers who regularly participate in cross-country races of the Czech Cup (n = 12, out of that 5 girls, age 16 - 19 years). Results: They showed a statistically significant difference (p < 0.05) in time. LA values were statistically significantly lower (p < 0.05) in the diagonal striding than in the double poling.
- Klíčová slova
- cross-country skiing, roller skating, heart rate, lactate, diagonal striding, double poling, běh na lyžích, kolečkové lyže, srdeční frekvence, laktát, soupažný běh prostý, střídavý běh dvoudobý,
- MeSH
- běh MeSH
- biomechanika MeSH
- lidé MeSH
- lyžování MeSH
- sporty na sněhu * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- abstrakt z konference MeSH
Cílem práce bylo experimentálně ověřit vliv inhalace hyperoxické směsi na výkon a vnitřní odezvu organizmu v pauze mezi úseky v testu simulujícím team sprint u běžců na lyžích. Metody: nestandardizovaný test na lyžařském ergometru SkiErg: 3 x 3 minuty zatížení a regenerace na rotopedu. V pauze mezi maximálními výkony inhalovali probandi koncentrovaný kyslík nebo placebo. Sledovali jsme: výkon, srdeční frekvenci (SF), laktát (LA) a pocity probandů prostřednictvím řízeného rozhovoru. Proband: běžci na lyžích (n = 10, průměrný věk: 22 let), aktivní účastníci Českého poháru v běhu na lyžích. Výsledky: neprokázaly statisticky významné (p < 0,05) zlepšení výkonu při výkonu na trenažéru SkiErg, SF nebo snížení hladiny LA po inhalaci hyperoxické směsi v pauze mezi zátěžemi.
The study aims to experimentally verify the effect of hyperoxia on the result and internal body reaction between the exercise intervals during a test simulating performance in team sprint on a SkiErg indoor Nordic Skiing machine by Nordic skiers. Methods: a non-standard test on SkiErg: 3 x 3 minute exercise and recovery on the cycling machine. During intervals between exercises, probands were inhaled: placebo or concentrated oxygen. During the exercises we monitored: power, heart rate, lactate and proband feelings using a controlled interview. Probands: Nordic skiers (n = 10, average age: 22 years), active participants Czech Nordic Cup. Results: significant statistical changes (p < 0,05) were not observed by power on SkiErg, heart rate and lactate after inhalation of concentrated oxygen in recuperation between exercises compared to placebo.
Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) deficiency is a rare subtype of congenital disorders of protein N-glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants in MPI gene. The manifestation of MPI-CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI-CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management, and treatment of each system/organ involvement based on evidence-based data and experts' opinions. Those guidelines also reveal more questions about MPI-CDG which need to be further studied.
- MeSH
- konsensus MeSH
- lidé MeSH
- management nemoci MeSH
- mannosa-6-fosfátisomerasa nedostatek genetika MeSH
- směrnice pro lékařskou praxi jako téma MeSH
- vrozené poruchy glykosylace diagnóza enzymologie terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Research Support, N.I.H., Extramural MeSH
