BACKGROUND: Primary ciliary dyskinesia (PCD) is a heterogenous disease caused by mutations of miscellaneous genes which physiologically play an important role in proper structure and/or function of various cellular cilia including sperm flagella. Besides male infertility, the typical phenotypes, based on decreased mucociliary clearance, are lifelong respiratory issues, i.e., chronic bronchitis leading to bronchiectasis, chronic rhinosinusitis, and chronic otitis media. Moreover, since motile cilia are important during embryological development in the sense of direction of gut rotation, 50% of affected individuals develop situs inversus - so-called Kartagener's syndrome. CASE PRESENTATION: We present two cases of PCD as a rare cause of male infertility. CONCLUSIONS: Primary ciliary dyskinesia should be suspected in infertile males having (sub)normal sperm concentration values with persistent zero motility together with patient's and/or family history of respiratory symptoms like bronchiectasis, chronic cough, rhinitis, recurrent sinusitis, and otitis media. Due to more than 50 identified mutations until now, the causal mechanism of male infertility is miscellaneous and not in all cases known in detail. Besides impaired sperm motility, other mechanisms significantly decreasing efficacy of assisted reproduction techniques play a pivotal role. Thus, proper diagnostic work-up including, among others, sperm DNA fragmentation, is mandatory to avoid ineffective treatment burden.
- Publikační typ
- časopisecké články MeSH
Andjelkovic, Marija, Peter Paal, Susi Kriemler, Kaste Mateikaite-Pipiriene, Alison Rosier, Beth Beidleman, Mia Derstine, Jacqueline Pichler Hefti, David Hillebrandt, Lenka Horakova, Dominique Jean, and Linda E. Keyes. Nutrition in women at high altitude: a scoping review-UIAA Medical Commission recommendations. High Alt Med Biol. 25:9-15, 2024. Background: Nutritional concerns such as food composition, energy intake, and nutrient absorption are essential for performance at high altitude and may differ between men and women. We performed a scoping review to summarize what is currently known on nutrition for women during short-term, high-altitude, physically active sojourns. Methods: The UIAA Medical Commission convened an international team to review women's health issues at high altitude and to publish updated recommendations. Pertinent literature from PubMed and Cochrane was identified by keyword search combinations (including nutrition, metabolism, energy composition, micronutrients) with additional publications found by hand search. Results: We found 7,165 articles, of which 13 original articles assessed nutritional aspects in physically active women on short-term high-altitude sojourns, with other articles found by hand search. We summarize the main findings. Conclusions: Data on women's nutrition at altitude are very limited. Reduction in energy intake plus increased energy expenditure at high altitude can lead to unbalanced nutrition, negatively influencing high-altitude adaptation and physical performance. Therefore, adequate dietary and fluid intake is essential to maintaining energy balance and hydration at high altitude in women as in men. Iron supplementation should be considered for women with iron depletion before travel.
- MeSH
- dieta * MeSH
- lidé MeSH
- nadmořská výška * MeSH
- železo MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Mateikaitė-Pipirienė, Kastė, Dominique Jean, Peter Paal, Lenka Horakova, Susi Kriemler, Alison J. Rosier, Marija Andjelkovic, Beth A. Beidleman, Mia Derstine, Jacqueline Pichler Hefti, David Hillebrandt, and Linda E. Keyes for the UIAA MedCom writing group on Women's Health in the Mountains. Menopause and high altitude: A scoping review-UIAA Medical Commission Recommendations. High Alt Med Biol. 25:1-8, 2024. Background: Older people are an important fraction of mountain travelers and climbers, many of them postmenopausal women. The aim of this work was to review health issues that older and postmenopausal women may experience at high altitude, including susceptibility to high-altitude illness. Methods: We performed a scoping review for the UIAA Medical Commission series on Women's Health in the mountains. We searched PubMed and Cochrane libraries and performed an additional manual search. The primary search focused on articles assessing lowland women sojourning at high altitude. Results: We screened 7,165 potential articles. The search revealed three relevant articles, and the manual search another seven articles and one abstract. Seven assessed menopausal low-altitude residents during a high-altitude sojourn or performing hypoxic tests. Four assessed high-altitude residents. We summarize the results of these 11 studies. Conclusions: Data are limited on the effects of high altitude on postmenopausal women. The effects of short-term, high-altitude exposure on menopause symptoms are unknown. Menopause has minimal effect on the physiological responses to hypoxia in physically fit women and does not increase the risk of acute mountain sickness. Postmenopausal women have an increased risk of urinary tract infections, which may be exacerbated during mountain travel. More research is needed on the physiology and performance of older women at high altitude.
První kazuistika popisuje případ 83leté respondentky, které byla v roce 2015 diagnostikována Parkinsonova choroba. Mapován je průběh onemocnění a zvyšování potřeb od sdělení diagnózy až po současný stav. Druhá kazuistika je zaměřena na nejbližší pečující, na to, jak vnímají onemocnění respondentky a zátěž s ním spojenou.
The first case report describes acase of an 83-year-old female respondent who was diagnosed with Parkinson’s disease in 2015. The course of the disease and increasing needs from the time of the diagnosis to the present condition are charted. The second case report focuses on the respondent’s immediate caregivers and their perception of the respondent’s illness and the burden associated with it.
As female soccer's popularity and participation rise, injury rates are expected to increase due to the sport's complexity, highlighting the importance of regular health and neuromuscular function screenings for injury prevention. The aim of the study was to determine how neuromuscular warm-up affects the contractility of the lower limb muscles and its significance in the prevention of injuries in female soccer players. The research sample consisted of 36 female soccer players, who were divided into an experimental (EG) and a control (CG) group with an average age 17.45 ± 2.63 years (EG) and 16.24 ± 1.09 years (CG). The contractility of the lower limb muscles was monitored using Tensiomyography (TMG). We evaluated bilaterally five muscles of the lower limbs for each soccer player: m. biceps femoris, m. gastrocnemius medialis, m. gluteus maximus, m. vastus lateralis, and m. vastus medialis. The experimental factor in the research, implemented during the warm-up phase of the training session, was neuromuscular warm-up over 12 weeks of EG. To assess the effect of the intervention program on changes in the muscle contractility of the soccer players, we employed the non-parametric Wilcoxon signed-rank test for dependent samples and the Mann-Whitney U test for independent samples. Results indicates that the speed of muscle contraction (Tc) and muscle stiffness (Dm) vary among different muscles and even between dominant and non-dominant limbs of soccer players. The impact of neuromuscular warm-up on contraction time and maximal displacement was negligible, except for a moderate effect in m. gluteus maximus of the non-dominant limb. Although the impact of neuromuscular warm-up on lower limb muscle contractility was not significant, more regular monitoring and inclusion of neuromuscular warm-up at a higher weekly frequency may have beneficial effects.
High-frequency waveform recordings of biological signals enable more detailed data analysis and deeper physiological exploration. However, the waveform data—like invasive arterial blood pressure (ABP)—are particularly susceptible to frequent contamination with artifacts that can devalue the subsequent calculations like pressure reactivity index (PRx). This study aimed to verify the ability of the short-time Fourier transform (STFT) based algorithm to detect artifacts in the ABP waveform. Four types of modeled artifacts (rectangular, fast impulse, sawtooth and baseline drift) with different durations and amplitudes were inserted into undisturbed ABP waveforms. Short-time Fourier transform with a 5-second time window is computed on artifact-polluted ABP signals to detect changes in the frequency domain caused by these artifacts. An algorithm with three decision-making rules based on the dominant frequency component, standardized power spectrum, and the value of the second harmonic of the dominant frequency was used. Only segments that passed all three rules were labeled as artifact-free. Results indicated high sensitivity (93.35% and 94.83%) in detecting rectangular and sawtooth artifacts, with specificity exceeding 99% for both. Baseline drift artifact was detected with a low sensitivity of 5.02%, and fast impulse was not detected. This study proposes the application of a short-time Fourier transform-based algorithm to enhance the detection of clinically significant artifacts in arterial blood pressure signals, particularly relevant for PRx and other secondary calculations.
Horakova, Lenka, Susi Kriemler, Vladimír Študent, Jacqueline Pichler Hefti, David Hillebrandt, Dominique Jean, Kastė Mateikaitė-Pipirienė, Peter Paal, Alison Rosier, Marija Andjelkovic, Beth Beidlemann, Mia Derstine, and Linda E. Keyes. Hormonal contraception and menstrual cycle control at high altitude: a scoping review-UIAA Medical Commission recommendations. High Alt Med Biol. 25:255-265, 2024. Background: Women who use hormonal contraception (HC) may have questions about their use during travel to high altitude. This scoping review summarizes current evidence on the efficacy and safety of HC and cycle control during high-altitude travel. Methods: We performed a scoping review for the International Climbing and Mountaineering Federation (UIAA) Medical Commission series on Women's Health in the Mountains. Pertinent literature from PubMed and Cochrane was identified by keyword search combinations (including contraception) with additional publications found by hand search. Results: We identified 17 studies from 7,165 potentially eligible articles. No articles assessed the efficacy of contraception during a short-term high-altitude sojourn. Current data show no advantage or disadvantage in HC users for acclimatization or acute mountain sickness (AMS). Use of HC during high-altitude travel is common and safe for menses suppression. A potential concern of estrogen-containing HC is the increased thrombotic risk, which theoretically could be compounded in hypobaric hypoxia. Conclusions: Evidence is limited for the interaction of HC and high altitude on performance, thrombosis, and contraceptive efficacy. HC does not affect the risk of AMS. The most efficacious and safest method at high altitude is generally the one women are most familiar with and already using.
- MeSH
- hormonální antikoncepce metody MeSH
- horolezectví fyziologie MeSH
- lidé MeSH
- menstruační cyklus * fyziologie účinky léků MeSH
- nadmořská výška * MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Vydání 1. 196 stran : ilustrace (některé barevné) ; 30 cm
Vysokoškolská učebnice, která se zaměřuje na teorii ošetřovatelství.
- Konspekt
- Patologie. Klinická medicína
- Učební osnovy. Vyučovací předměty. Učebnice
- NLK Obory
- ošetřovatelství
- NLK Publikační typ
- učebnice vysokých škol
Pichler Hefti, Jacqueline, Dominique Jean, Alison Rosier, Mia Derstine, David Hillebrandt, Lenka Horakova, Linda E. Keyes, Kastė Mateikaitė-Pipirienė, Peter Paal, Marija Andjelkovic, Beth Beidlemann, and Susi Kriemler. High-altitude pulmonary edema in women: a scoping review-UIAA Medical Commission Recommendations. High Alt Med Biol. 24:268-273, 2023. Background: High-altitude pulmonary edema (HAPE) can occur >2,500-3,000 m asl and is a life-threatening medical condition. This scoping review aims to summarize the current data on sex differences in HAPE. Methods: The International Climbing and Mountaineering Federation (UIAA) Medical Commission convened an international author team to review women's health issues at high altitude. Pertinent literature from PubMed and Cochrane was identified by keyword search combinations (including HAPE), with additional publications found by hand search. The primary search focus was for original articles that included minimum one woman and at least a rudimentary subgroup analysis. Results: The literature search yielded 7,165 articles, 416 of which were relevant for HAPE, and 7 of which were ultimately included here. Six were case series, consistently reporting a lower HAPE prevalence in women. The one retrospective case-control study reported male HAPE prevalence at 10/100,000 and female at 0.74/100,000. No studies were identified that directly compared sex differences in the prevalence of HAPE. No published data was found for topics other than epidemiology. Conclusions: Few studies and associated methodological limitations allow few conclusions to be drawn. Incidence of HAPE may be lower in women than in men. We speculate that besides physiological aspects, behavioral differences may contribute to this potential sex difference.
