OBJECTIVE: To establish the prevalence of risk factors for aortic dissection, such as bicuspid aortic valve, aortic coarctation and ascending aorta dilatation, in women with low-level 45,X/46,XX mosaicism undergoing an in-vitro fertilization (IVF) procedure. METHODS: The study group comprised 25 women with low-level 45,X/46,XX mosaicism (ranging from 3.3% to 10.0%) who were referred to two reproductive medicine units between 2009 and 2013 because of infertility and who underwent subsequent karyotyping. In accordance with the recommendation of the Practice Committee of the American Society for Reproductive Medicine for patients with Turner syndrome (TS), prior to the IVF procedure, all women underwent careful cardiovascular screening for congenital heart disease and thoracic aorta dilatation, including standard cardiac examination, echocardiography and non-contrast cardiac magnetic resonance imaging. Aortic size index (ASI, diameter of the ascending aorta normalized to body surface area) and the prevalence of coarctation of the aorta and of bicuspid aortic valve were compared with findings previously reported in women with TS and the general population. RESULTS: Bicuspid aortic valve without any stenosis or regurgitation was found in one woman in the study group with low-level 45,X/46,XX mosaicism, a statistically significantly lower prevalence of bicuspid aortic valve than that reported in women with TS. Aortic coarctation was not identified in any individual. The ASI was below the 95th percentile in all cases and the mean value was significantly lower than the mean reference values for both the general population and women with TS. CONCLUSION: Compared with the general population, the prevalence of risk factors for aortic dissection was not found to be higher in women with low-level 45,X/46,XX mosaicism without any noticeable features except infertility.
- MeSH
- Sex Chromosome Aberrations MeSH
- Aortic Aneurysm, Thoracic genetics MeSH
- Aortic Valve abnormalities ultrasonography MeSH
- Dilatation MeSH
- Aortic Dissection genetics MeSH
- Adult MeSH
- Fertilization in Vitro MeSH
- Aortic Coarctation epidemiology genetics ultrasonography MeSH
- Humans MeSH
- Chromosomes, Human, X * MeSH
- Magnetic Resonance Imaging MeSH
- Mosaicism * MeSH
- Heart Valve Diseases genetics ultrasonography MeSH
- Prevalence MeSH
- Prospective Studies MeSH
- Risk Factors MeSH
- Pregnancy MeSH
- Heart Defects, Congenital genetics MeSH
- Infertility, Female genetics MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Paced Auditory Serial-Addition Task (PASAT) is a complex task commonly used to examine patients with diffuse brain damage. A visual version of the neuropsychological test (Paced Visual Serial-Addition Task, PVSAT) has also been introduced to clinical practice, and both versions were adapted to be used in neuroimaging, namely functional magnetic resonance imaging (fMRI). The aim of our work was direct comparison of auditory and visual versions of the paced serial addition test (PASAT/PVSAT) in a within-subject and within-session study and description of the commonalities and differences in both activated and deactivated brain regions. Twenty young adult right-handed healthy volunteers participated in the study and underwent whole-brain fMRI examination during PASAT and PVSAT performance. Higher-level statistical analysis was performed to generate group mean activation and deactivation maps for both tasks, their conjunctions and differences across modalities. In PASAT/PVSAT activation conjunction analysis, we confirmed the existence of a modality-independent neural network similar to working memory tasks and to previous PASAT or PVSAT studies. In PASAT/PVSAT deactivation conjunction analysis, we observed a rather symmetrical extensive pattern of deactivated regions, overlapping the default mode network. Significant differences between PASAT and PVSAT were found in the right frontal eye field (FEF) and bilaterally in the striate and extrastriate cortices. Activation in one task and deactivation in the other jointly contributed to significant differences in all occipital and occipitotemporal regions. Both tasks activated right FEF, but activation during PASAT was significantly stronger than during PVSAT. Between-modality differences should be considered when preparing and interpreting neuroimaging experiments.
- MeSH
- Acoustic Stimulation * MeSH
- Adult MeSH
- Cognition physiology MeSH
- Memory, Short-Term physiology MeSH
- Humans MeSH
- Magnetic Resonance Imaging methods MeSH
- Adolescent MeSH
- Young Adult MeSH
- Brain physiology MeSH
- Neuropsychological Tests MeSH
- Task Performance and Analysis MeSH
- Attention physiology MeSH
- Photic Stimulation * MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
