- MeSH
- bioaktivní peptidy ve stravě * fyziologie imunologie MeSH
- emoce fyziologie MeSH
- imunonutriční dieta MeSH
- lidé MeSH
- mitochondriální nemoci etiologie MeSH
- nemoc etiologie MeSH
- neuroendokrinologie * MeSH
- nitrosativní stres MeSH
- oxidační stres fyziologie imunologie MeSH
- psychický stres imunologie MeSH
- psychoneuroimunologie * MeSH
- výchova a vzdělávání MeSH
- životní styl MeSH
- Check Tag
- lidé MeSH
BACKGROUND: Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in TMEM240. A growing, yet still limited number of reports suggested that hyperkinetic movements should be considered a defining component of the disease. CASE SERIES: We describe two newly identified families harboring the recurrent pathogenic TMEM240 p.Pro170Leu variant. Both index patients and the mother of the first proband developed movement disorders, manifesting as myoclonic dystonia and action-induced dystonia without co-occurring ataxia in one case, and pancerebellar syndrome complicated by action-induced dystonia in the other. We reviewed the literature on TMEM240 variants linked to hyperkinetic disorders, comparing our cases to described phenotypes. DISCUSSION: Adding to prior preliminary observations, our series highlights the relevance of hyperkinetic movements as clinically meaningful features of SCA21. TMEM240 mutation should be included in the differential diagnosis of myoclonic dystonia and ataxia-dystonia syndromes.
- MeSH
- ataxie MeSH
- dystonické poruchy * MeSH
- dystonie * diagnóza genetika MeSH
- hyperkineze MeSH
- lidé MeSH
- membránové proteiny MeSH
- myoklonus * diagnóza genetika MeSH
- spinocerebelární degenerace * MeSH
- syndrom MeSH
- vzácné nemoci MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH
- přehledy MeSH
INTRODUCTION: Serological tests can be used to test whether an animal has been exposed to an infectious agent, and whether its immune system has recognized and produced antibodies against it. Paired samples taken several weeks apart then document an ongoing infection and/or seroconversion. METHODS: In the absence of a commercial kit, we developed an indirect enzyme-linked immunosorbent assay (ELISA) to detect the fungus-specific antibodies for Pseudogymnoascus destructans, the agent of white-nose syndrome in bats. RESULTS AND DISCUSSION: Samples collected from European Myotis myotis (n=35) and Asian Myotis dasycneme (n=11) in their hibernacula at the end of the hibernation period displayed 100% seroprevalence of antibodies against P. destructans, demonstrating a high rate of exposure. Our results showed that the higher the titre of antibodies against P. destructans, the lower the infection intensity, suggesting that a degree of protection is provided by this arm of adaptive immunity in Palearctic bats. Moreover, P. destructans infection appears to be a seasonally self-limiting disease of Palearctic bats showing seroconversion as the WNS skin lesions heal in the early post-hibernation period.
- MeSH
- Chiroptera * MeSH
- kožní nemoci * MeSH
- mykózy * epidemiologie veterinární MeSH
- séroepidemiologické studie MeSH
- syndrom MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
Intraoperative floppy iris syndrome (IFIS) is a cataract surgery complication that remains a challenge for eye surgeons. It is caused by the antagonism of alfa-1-adrenergic receptors within the dilator muscle of the iris, thus preventing the iris from dilation during a cataract surgery. The long-term blocking alfa-1 adrenergic receptors by the chronic use of a number of systemic medications may lead to permanent anatomical atrophy of the dilator muscle of the iris. The most common drugs associated with the development of IFIS are tamsulosin and other alpha-1 adrenergic receptor antagonists prescribed to patients with low urinary tract symptoms (LUTS). There are other systemic medications that have been reported to have increased risk for IFIS. It is crucial for the ophthalmologist to identify the high-risk patients prone to develop IFIS. Its presence may complicate the course of cataract surgery, ultimately negatively affecting visual outcome. Cataract surgery should be performed by an experienced eye surgeon using alternative pharmacological and surgical techniques. Interdisciplinary cooperation is essential to mitigate potential complications. Patients should be informed by their physicians about the need to report a medication history to their eye specialists, especially before cataract surgery.
- MeSH
- adrenergní receptory MeSH
- alfa blokátory škodlivé účinky MeSH
- fakoemulzifikace * MeSH
- iris MeSH
- katarakta * chemicky indukované MeSH
- lidé MeSH
- nemoci duhovky * chemicky indukované diagnóza MeSH
- peroperační komplikace chemicky indukované MeSH
- sulfonamidy škodlivé účinky MeSH
- syndrom MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Converging evidence suggests that schizophrenia (SZ) with primary, enduring negative symptoms (i.e., Deficit SZ (DSZ)) represents a distinct entity within the SZ spectrum while the neurobiological underpinnings remain undetermined. In the largest dataset of DSZ and Non-Deficit (NDSZ), we conducted a meta-analysis of data from 1560 individuals (168 DSZ, 373 NDSZ, 1019 Healthy Controls (HC)) and a mega-analysis of a subsampled data from 944 individuals (115 DSZ, 254 NDSZ, 575 HC) collected across 9 worldwide research centers of the ENIGMA SZ Working Group (8 in the mega-analysis), to clarify whether they differ in terms of cortical morphology. In the meta-analysis, sites computed effect sizes for differences in cortical thickness and surface area between SZ and control groups using a harmonized pipeline. In the mega-analysis, cortical values of individuals with schizophrenia and control participants were analyzed across sites using mixed-model ANCOVAs. The meta-analysis of cortical thickness showed a converging pattern of widespread thinner cortex in fronto-parietal regions of the left hemisphere in both DSZ and NDSZ, when compared to HC. However, DSZ have more pronounced thickness abnormalities than NDSZ, mostly involving the right fronto-parietal cortices. As for surface area, NDSZ showed differences in fronto-parietal-temporo-occipital cortices as compared to HC, and in temporo-occipital cortices as compared to DSZ. Although DSZ and NDSZ show widespread overlapping regions of thinner cortex as compared to HC, cortical thinning seems to better typify DSZ, being more extensive and bilateral, while surface area alterations are more evident in NDSZ. Our findings demonstrate for the first time that DSZ and NDSZ are characterized by different neuroimaging phenotypes, supporting a nosological distinction between DSZ and NDSZ and point toward the separate disease hypothesis.
- MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- mozková kůra diagnostické zobrazování MeSH
- neurozobrazování MeSH
- schizofrenie * genetika MeSH
- syndrom MeSH
- temenní lalok MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
- MeSH
- duševní zdraví * MeSH
- lidé MeSH
- mobilní aplikace * MeSH
- nemoc psychologie MeSH
- pacienti psychologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- zprávy MeSH
BACKGROUND: Cleft lip with cleft palate (CLP) is a congenital condition that affects both the oral cavity and the lips. This study estimated the prevalence and mortality of CLP using surveillance data collected from birth defect registries around the world. METHODS: Data from 22 population- and hospital-based surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) in 18 countries on live births (LB), stillbirths (SB), and elective terminations of pregnancy for fetal anomaly (ETOPFA) for CLP from 1974 to 2014 were analyzed. Prevalence and survival (survival for LB only) estimates were calculated for total and subclassifications of CLP and by pregnancy outcome. RESULTS: The pooled prevalence of total CLP cases was 6.4 CLP per 10,000 births. The prevalence of CLP and all of the pregnancy outcomes varied across programs. Higher ETOPFA rates were recorded in most European programs compared to programs in other continents. In programs reporting low ETOPFA rates or where there was no ascertainment of ETOPFA, the rate of CLP among LB and SB was higher compared to those where ETOPFA rates were ascertained. Overall survival for total CLP was 91%. For isolated CLP, the survival was 97.7%. CLP associated with multiple congenital anomalies had an overall survival of 77.1%, and for CLP associated with genetic/chromosomal syndromes, overall survival was 40.9%. CONCLUSIONS: Total CLP prevalence reported in this study is lower than estimates from prior studies, with variation by pregnancy outcomes between programs. Survival was lower when CLP was associated with other congenital anomalies or syndromes compared to isolated CLP.
Akutní klimakterický syndrom má poměrně rozsáhlou symptomatologii, jejímž hlavním zástupcem jsou návaly horka a noční pocení. Jednotlivé příznaky se mohou vyskytovat izolovaně, ale většinou se kombinují; jsou spojeny se změnou hladin neurosteroidů. Správná léčba spočívá v podání hormonální substituční terapie. Míru potíží a hlavně reakci na léčbu lze hodnotit pomocí standardizovaných dotazníků.
The acute climacteric syndrome has a large scale of symptoms. Main symptoms are hot flashes and night sweats. Each symptom could be presented alone or commonly in combination with other symptoms. The acute climacteric syndrome is induced by decrease and fluctuations of estrogen and neurosteroids levels. Therapy could be focused on hormone replacement. Changes of quality of life and especially effects of the therapy could be measured by standardized questionaries.
- MeSH
- klimakterium * fyziologie MeSH
- kvalita života MeSH
- lidé MeSH
- menopauza fyziologie MeSH
- návaly etiologie MeSH
- pocení MeSH
- průzkumy a dotazníky MeSH
- syndrom * MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- přehledy MeSH
