Arterial stiffness represents an independent predictor of the risk of subsequent cardiovascular events. Early identification of high-risk individuals is necessary for effective prevention and targeted interventions. Carotid wall echo-tracking is a modern method for an accurate evaluation of the structural and functional properties of carotid arteries. This study aimed to assess age and sex-specific reference values of the echo-tracking parameters of carotid stiffness in 400 healthy children and adolescents and to evaluate the potential early effect of elevated blood pressure and overweight in 69 overweight normotensives, 45 white coat hypertensives, and 44 essential hypertensives. Stiffness index β, pressure-strain elastic modulus (Ep), arterial compliance (AC), and pulse wave velocity β (PWV β) were evaluated using Aloka ProSound F75. Both white coat and essential hypertension were associated with impaired carotid wall properties with the greatest effect on Ep, followed by PWV β, index β, and AC. The excess weight showed a weaker effect on Ep and PWV β. This is the first study to compare the effects of white coat and essential hypertension on carotid arterial stiffness assessed using the echo-tracking technique in childhood and adolescence with direct application of pediatric reference values specific to age and sex.

• Publikační typ
• časopisecké články MeSH

Spinálna muskulárna atrofia (SMA) je autozómovo recesívne dedičné neurodegeneratívne ochorenie spôsobené mutáciou SMN1 génu kódujúceho proteín, ktorý je nevyhnutný pre prežívanie motoneurónov predných rohov miechy a jadier mozgového kmeňa. Ochorenie vedie k progresívnej svalovej slabosti, atrofizácii kostrových svalov a respiračnej insuficiencii, pričom senzitívna citlivosť a kognitívne funkcie ostávajú zachované. Ochorenie je klasifikované na základe veku nástupu symptómov, najvyššieho dosiahnutého stupňa psychomotorického vývinu a predpokladanej dĺžky života. Diagnostickým štandardom je molekulovo-genetické vyšetrenie. V posledných rokoch bola do klinickej praxe zavedená kauzálna liečba zásadne modifikujúca ochorenie, vďaka ktorej sú pacienti s SMA schopní dosiahnuť vyššie motorické míľniky. V priebehu minulého roka bola v Českej republike a na Slovensku spustená pilotná štúdia novorodeneckého skríningu SMA, ktorým je možné zachytiť ochorenie ešte v asymptomatickom štádiu. Včasné rozpoznanie a zahájenie terapie vedie k signifikantnému zlepšeniu prognózy a kvality života pacientov. Kolektív autorov predkladá kazuistiku novorodenca preloženého na Neonatologickú kliniku Univerzitnej nemocnice v Martine, u ktorého bola diagnostikovaná najťažšia forma SMA typu 0 so symptómami prítomnými už od narodenia, s infaustnou prognózou.

Spinal muscular atrophy (SMA) is an autosomal recessive inheritable neurodegenerative disease caused by mutation of the SMN1 gene encoding a protein essential for the survival of motoneurons of the anterior corners of the spinal cord and brainstem nuclei. The disease leads to progressive muscle weakness, skeletal muscle atrophy, and respiratory insufficiency, while sensory sensitivity and cognitive functions remain preserved. The disease is classified based on the age of onset of symptoms, the highest level of psychomotor development achieved, and expected life expectancy. The diagnostic standard is a molecular-genetic examination. In recent years, causal disease-modifying treatment has been introduced into clinical practice, thanks to which patients with SMA can reach higher motor milestones. A pilot study of neonatal screening for SMA was launched last year in Czech Republic and Slovakia, which can detect the disease in an asymptomatic stage. Early recognition and initiation of therapy leads to significant improvement of prognosis and quality of life in patients. The collective of authors presents a case report of a newborn transferred to the Neonatology Clinic of the University Hospital in Martin, who was diagnosed with the most severe form of SMA type 0 with symptoms present since birth, with an inauspicious prognosis.

• Klíčová slova
• hypotonus,
• MeSH
• genetické testování MeSH
• lidé MeSH
• novorozenec MeSH
• spinální svalová atrofie * diagnóza   genetika   patofyziologie   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• Publikační typ
• kazuistiky MeSH

Cardiovascular complications contribute to higher morbidity and mortality in patients with anorexia nervosa. We aimed to study biomarkers of cardiovascular risk in anorexic, normal-weight, and obese adolescents with focus on complex cardiovascular autonomic regulation and early arteriosclerotic damage. We examined 20 adolescent girls with anorexia nervosa, 20 obese girls, and 20 healthy normal-weight controls. Collected data: body composition analysis, 5 min recordings of R-R intervals and beat-to-beat blood pressure (BP), and arterial stiffness evaluated using cardio-ankle vascular index (CAVI). Evaluated parameters: beat-to-beat heart rate and BP variability, haemodynamic parameters (total peripheral resistance (TPR) cardiac output), CAVI, and anthropometric indices, including novel body roundness index (BRI). Adolescents with anorexia nervosa had increased CAVI associated with lower arterial constriction indexed by low-frequency band of BP variability compared with normal-weight peers (p = 0.03, p = 0.04, respectively) and obese adolescents (p < 0.01, p = 0.01, respectively). After normalization of CAVI and TPR by BRI, the relationship between CAVI and TPR was significant for all groups with the highest slope in the anorexia nervosa group (R2 = 0.724, p < 0.01). This is the first study revealing early arteriosclerotic damage in anorexic girls with increased CAVI. Complex analysis of cardiovascular autonomic regulation, and early arteriosclerotic, hemodynamic, and anthropometric changes in spectrum anorexia nervosa, normal weight, and obesity could help to understand the mechanisms of increased cardiovascular risk in malnutrition. Novelty Girls with anorexia nervosa showed signs of early arteriosclerotic damage indexed by CAVI. Insufficient sympathetic cardiovascular control was found already in adolescents with anorexia nervosa. The effect of body composition on CAVI was best predicted by novel body roundness index.

• MeSH
• dítě MeSH
• hemodynamika fyziologie   MeSH
• lidé MeSH
• mentální anorexie * epidemiologie   patofyziologie   MeSH
• mladiství MeSH
• obezita dětí a dospívajících * epidemiologie   patofyziologie   MeSH
• průřezové studie MeSH
• tuhost cévní stěny fyziologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Respiratory sinus arrhythmia (RSA), i.e. heart rate (HR) variations during inspiration and expiration, is considered as a noninvasive index of cardiac vagal control. Mitral valve prolapse (MVP) could be associated with increased cardiovascular risk; however, the studies are rare particularly at adolescent age. Therefore, we aimed to study cardiac vagal control indexed by RSA in adolescent patients suffering from MVP using short-term heart rate variability (HRV) analysis. We examined 12 adolescents (girls) with MVP (age 15.9±0.5 years) and 12 age and gender matched controls. Resting ECG was continuously recorded during 5 minutes. Evaluated HRV indices were RR interval (ms), rMSSD (ms), pNN50 (%), log HF (ms(2)), peak HF (Hz) and respiratory rate (breaths/min). RR interval was significantly shortened in MVP group compared to controls (p=0.004). HRV parameters-rMSSD, pNN50 and log HF were significantly lower in MVP compared to controls (p=0.017, p=0.014, p= 0.015 respectively). Our study revealed reduced RSA magnitude indicating impaired cardiac vagal control in MVP already at adolescent age that could be crucial for early diagnosis of cardiovascular risk in MVP.

• MeSH
• elektrokardiografie metody   MeSH
• index tělesné hmotnosti * MeSH
• lidé MeSH
• mladiství MeSH
• nervus vagus fyziologie   MeSH
• prolaps mitrální chlopně diagnóza   patofyziologie   MeSH
• respirační sinusová arytmie fyziologie   MeSH
• srdeční frekvence fyziologie   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Arterial stiffness is a marker of vascular damage. Although adiposity increases cardiovascular risk, the relationship between paediatric overweight and arterial stiffness is unclear. The study aimed to evaluate the simultaneous effect of hypertension and overweight on arterial stiffness using cardio-ankle vascular index (CAVI) and related novel, theoretically blood pressure (BP)-independent, index CAVI0. CAVI and CAVI0 were measured in 140 adolescent boys (16.0 ± 1.9 years) divided into age-matched groups: normal-weight normotensives, overweight normotensives, overweight white-coat hypertensives, and overweight essential hypertensives. Overweight normotensives had significantly lower CAVI and CAVI0 compared to normal-weight normotensives (4.81 ± 0.64 vs. 5.33 ± 0.66, p < .01; 7.10 ± 0.99 vs. 7.81 ± 1.00, p < .01, respectively). CAVI and CAVI0 in overweight essential hypertensives showed no significant difference compared to normal-weight normotensives and were significantly higher compared to overweight normotensives (5.32 ± 0.77 vs. 4.81 ± 0.64, p < .01; 7.77 ± 1.19 vs. 7.10 ± 0.99, p < .01, respectively). CAVI, but not CAVI0, was associated positively with diastolic pressure (0.022 mmHg-1, p = .002) and negatively with pulse pressure (-0.022 mmHg-1, p = .001), and it was significantly higher in overweight white-coat hypertensives compared to overweight normotensives (5.20 ± 0.63 vs. 4.81 ± 0.64, p < .05). The lowering effect of overweight on arterial stiffness indexed by CAVI and CAVI0 in hypertensive adolescents seems to counterbalance the early arteriosclerotic effect of essential hypertension. The increase in CAVI, but not CAVI0, in overweight white-coat hypertensives could be attributable to residual BP dependence of CAVI, which is not present in CAVI0. Under certain conditions, CAVI0 may offer a clinically relevant improved assessment of arterial stiffness superior to CAVI.

• MeSH
• analýza pulzové vlny MeSH
• arterioskleróza diagnóza   MeSH
• hypertenze diagnóza   MeSH
• kotník krevní zásobení   MeSH
• krevní tlak MeSH
• lidé MeSH
• mladiství MeSH
• nadváha patologie   patofyziologie   MeSH
• rizikové faktory MeSH
• tuhost cévní stěny MeSH
• zlepšení kvality MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH