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
BACKGROUND: The escalating global prevalence of type 2 diabetes and prediabetes presents a major public health challenge. Physical activity plays a critical role in managing (pre)diabetes; however, adherence to physical activity recommendations remains low. The ENERGISED trial was designed to address these challenges by integrating mHealth tools into the routine practice of general practitioners, aiming for a significant, scalable impact in (pre)diabetes patient care through increased physical activity and reduced sedentary behaviour. METHODS: The mHealth intervention for the ENERGISED trial was developed according to the mHealth development and evaluation framework, which includes the active participation of (pre)diabetes patients. This iterative process encompasses four sequential phases: (a) conceptualisation to identify key aspects of the intervention; (b) formative research including two focus groups with (pre)diabetes patients (n = 14) to tailor the intervention to the needs and preferences of the target population; (c) pre-testing using think-aloud patient interviews (n = 7) to optimise the intervention components; and (d) piloting (n = 10) to refine the intervention to its final form. RESULTS: The final intervention comprises six types of text messages, each embodying different behaviour change techniques. Some of the messages, such as those providing interim reviews of the patients' weekly step goal or feedback on their weekly performance, are delivered at fixed times of the week. Others are triggered just in time by specific physical behaviour events as detected by the Fitbit activity tracker: for example, prompts to increase walking pace are triggered after 5 min of continuous walking; and prompts to interrupt sitting following 30 min of uninterrupted sitting. For patients without a smartphone or reliable internet connection, the intervention is adapted to ensure inclusivity. Patients receive on average three to six messages per week for 12 months. During the first six months, the text messaging is supplemented with monthly phone counselling to enable personalisation of the intervention, assistance with technical issues, and enhancement of adherence. CONCLUSIONS: The participatory development of the ENERGISED mHealth intervention, incorporating just-in-time prompts, has the potential to significantly enhance the capacity of general practitioners for personalised behavioural counselling on physical activity in (pre)diabetes patients, with implications for broader applications in primary care.
Covid-19 je virové onemocnění, během kterého se mohou různými mechanismy rozvinout stavy vedoucí ke vzniku trombóz v žilách i tepnách. Podobně i vakcinace proti covid-19 může spustit mechanismy vedoucí k tromboembolickým komplikacím. V předkládané kazuistice popisujeme případ 70letého jinak zdravého muže, u kterého se během onemocnění covid-19 a po aplikaci vakcinace proti covid-19 rozvinula progredující cyanóza na horních končetinách na podkladě trombózy tepen palmárních oblouků a aa. ulnares. Situaci se podařilo vyřešit kombinací antikoagulační a antitrombotické léčby.
COVID-19 represents an acute viral disease that may, by various mechanisms, lead to the development of coagulopathy, resulting in arterial or venous thrombotic events. Accordingly, vaccination against COVID-19 may lead to thromboembolic complications. In the presented case report we describe the case of a 70-year-old otherwise healthy male, who presented to our clinic with the progressive cyanosis of the fingers of the upper extremities initiated during COVID-19 and promoted after COVID-19 vaccination. Observed cyanosis was a result of the arterial thrombosis of the ulnar arteries and the arteries of the palmar arches. Progression of the disease was stopped and resolved using a combination of antithrombotic and anticoagulation therapy.
- MeSH
- adenovirové vakcíny škodlivé účinky MeSH
- angiotensin-konvertující enzym 2 biosyntéza nedostatek MeSH
- COVID-19 komplikace krev MeSH
- cyanóza * diagnóza etiologie terapie MeSH
- embolie a trombóza etiologie MeSH
- hematologické látky aplikace a dávkování farmakologie terapeutické užití MeSH
- horní končetina krevní zásobení MeSH
- inhibitory koagulačních faktorů analýza MeSH
- lidé MeSH
- odběr vzorku krve MeSH
- rehabilitace MeSH
- senioři MeSH
- trombotický zánět etiologie patofyziologie MeSH
- ultrasonografie dopplerovská MeSH
- vakcíny proti COVID-19 krev škodlivé účinky MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
Ačkoli je hemospermie ve většině případů benigním příznakem s autolimitujícím charakterem, vyvolává obavy nejen u pacientů samotných, ale i u jejich partnerek/-ů. Autoři předkládají přehled možných příčin s doporučenou diagnostikou a terapeutickými možnostmi.
Althought haemospermia is in most cases a benign sign with autolimiting course, it causes concerns in not only patients themselves, but their partners as well. The authors present an overview of possible causes with recommended diagnostic workup and possible therapeutic measures.
- MeSH
- hemospermie * diagnóza etiologie terapie MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
Covid-19 je virové onemocnění, během kterého se mohou různými mechanismy rozvinout stavy vedoucí ke vzniku trombóz v žilách i tepnách. Podobně i vakcinace proti covid-19 může spustit mechanismy vedoucí k tromboembolickým komplikacím. V předkládané kazuistice popisujeme případ 70letého jinak zdravého muže, u kterého se během onemocnění covid-19 a po aplikaci vakcinace proti covid-19 rozvinula progredující cyanóza na horních končetinách na podkladě trombózy tepen palmárních oblouků a aa. ulnares. Situaci se podařilo vyřešit kombinací antikoagulační a antitrombotické léčby.
COVID-19 represents an acute viral disease that may, by various mechanisms, lead to the development of coagulopathy, resulting in arterial or venous thrombotic events. Accordingly, vaccination against COVID-19 may lead to thromboembolic complications. In the presented case report we describe the case of a 70-year-old otherwise healthy male, who presented to our clinic with the progressive cyanosis of the fingers of the upper extremities initiated during COVID-19 and promoted after COVID-19 vaccination. Observed cyanosis was a result of the arterial thrombosis of the ulnar arteries and the arteries of the palmar arches. Progression of the disease was stopped and resolved using a combination of antithrombotic and anticoagulation therapy.
- MeSH
- COVID-19 komplikace MeSH
- cyanóza * etiologie patofyziologie MeSH
- lidé MeSH
- poruchy hemostázy komplikace patofyziologie MeSH
- senioři MeSH
- vakcíny proti COVID-19 MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- kazuistiky MeSH
- Klíčová slova
- venetoklax,
- MeSH
- akutní myelomonocytární leukemie * farmakoterapie MeSH
- azacytidin aplikace a dávkování terapeutické užití MeSH
- lidé MeSH
- protokoly protinádorové léčby MeSH
- sulfonamidy terapeutické užití MeSH
- tyrosinkinasa 3 podobná fms antagonisté a inhibitory MeSH
- Check Tag
- lidé MeSH
- MeSH
- akutní lymfatická leukemie diagnóza farmakoterapie klasifikace MeSH
- akutní myeloidní leukemie diagnóza klasifikace terapie MeSH
- akutní promyelocytární leukemie diagnóza farmakoterapie MeSH
- diferenciální diagnóza MeSH
- leukemie * diagnóza klasifikace terapie MeSH
- lidé MeSH
- prognóza MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
- MeSH
- folikulární lymfom * diagnóza klasifikace terapie MeSH
- lidé MeSH
- protokoly protinádorové kombinované chemoterapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
