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María C. Lanuza-López Sandra G. Martínez-Garza Jesús F. Solórzano-Vázquez Daniela Paz-Cervantes Claudia González-Ortega Israel Maldonado-Rosas 《Gynecological endocrinology》2020,36(9):829-834
AbstractOocyte maturation defect is a challenging situation in the management of infertility, the etiology may be related to endocrine causes, protocols used in ovarian stimulation, oocyte intrinsic defects or procedures in embryology laboratory. We report three Mexican females in treatment for primary infertility with non-mature oocytes after ovary stimulation and oocyte capture in whom a genetic diagnosis of TUBB8-oocyte maturation defect was revealed by exome sequencing. Two couples achieved pregnancies though oocyte donation after establishing the genetic etiology. Our results expand the role of TUBB8-disorders in patients of non-Asian ethnicity. Oocyte maturation defects of monogenic origin are a growing group of disorders that endocrinologists and reproductive medicine specialists should be aware in order to provide referral to genetics for establish a correct and opportune diagnosis. 相似文献
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Joshua J. Bear Heidi E. Kirsch Brian D. Berman Kevin E. Chapman Jason R. Tregellas 《Epileptic Disord》2020,22(3):291-299
Aims. Functional connectivity is providing new insights into the network nature of epilepsy with growing clinical applications. Our objective was to validate a novel magnetoencephalography‐based method to non‐invasively measure the epileptic network. Methods. We retrospectively identified pediatric and adult patients with refractory focal epilepsy who underwent pre‐surgical magnetoencephalography with subsequent intracranial electrographic monitoring. Magnetoencephalography tracings were visually reviewed, and interictal epileptiform discharges (“spikes”) were individually marked. We then evaluated differences in whole‐brain connectivity during brief epochs preceding the spikes and during the spikes using the Network‐Based Statistic to test differences at the network level. Results. In six patients with statistically‐significant network differences, we observed substantial overlap between the spike‐associated networks and electrographically active areas identified during intracranial monitoring (the spike‐associated network was 78% and 83% sensitive for intracranial electroencephalography‐defined regions in the irritative and seizure onset zones, respectively). Conclusion. These findings support the neurobiological validity of the spike‐associated network method. Assessment of spike‐associated networks has the potential to improve surgical planning in epilepsy surgery patients by identifying components of the epileptic network prior to implantation. 相似文献
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Breanne E. Kunstler Jill L. Cook Joanne L. Kemp Paul D. O’Halloran Caroline F. Finch 《Journal of Science and Medicine in Sport》2019,22(1):2-10
Objectives
To determine: (i) the behaviour change techniques used by a sample of Australian physiotherapists to promote non-treatment physical activity; and (ii) whether those behaviour change techniques are different to the techniques used to encourage adherence to rehabilitation exercises.Design
Cross-sectional survey.Method
An online self-report survey was advertised to private practice and outpatient physiotherapists treating patients with musculoskeletal conditions. The use of 50 behaviour change techniques were measured using five-point Likert-type scale questions.Results
Four-hundred and eighty-six physiotherapists responded to the survey, with 216 surveys fully completed. Most respondents (85.1%) promoted non-treatment physical activity often or all of the time. Respondents frequently used 29 behaviour change techniques to promote non-treatment physical activity or encourage adherence to rehabilitation exercises. A similar number of behaviour change techniques was frequently used to encourage adherence to rehabilitation exercises (n = 28) and promote non-treatment physical activity (n = 26). Half of the behaviour change techniques included in the survey were frequently used for both promoting non-treatment physical activity and encouraging adherence to rehabilitation exercises (n = 25). Graded tasks was the most, and punishment was the least, frequently reported technique used to promote non-treatment physical activity and encourage adherence to rehabilitation exercises.Conclusions
Respondents reported using similar behaviour change techniques to promote non-treatment physical activity and encourage adherence to rehabilitation exercises. The variability in behaviour change technique use suggests the behaviour the physiotherapist is promoting influences their behaviour change technique choice. Including the frequently-used behaviour change techniques in non-treatment physical activity promotion interventions might improve their efficacy. 相似文献28.
Platelets are needed to prevent or arrest bleeding and aggregate at the site of injury upon vascular damage. Platelets express receptors for estrogens which might affect the function of the platelets and their hemostatic ability. The aim was to identify possible differences in platelet function related to age, gender, and phases of the menstrual cycle by use of impedance aggregometry with Multiplate. In the first part of the study, platelet function was assessed in 60 healthy individuals (30 men and 30 women) in each of three age groups (20–25, 40–45, and 60–65 years). In the second part of the study, the platelet function was analyzed on four occasions during the menstrual cycle in women without oral contraceptives (OCs) (n = 17) and compared to 19 women on OCs and 18 men of similar age (20–40 years). For the women on OCs, aggregation was analyzed once during the tablet-free week and once late during the period with OCs. The men were sampled once. Women of younger age (<45 years) had significantly higher agonist-induced aggregation response than both men and post-menopausal women (60–65 years). The agonist-induced aggregation response did not differ between phases of the menstrual cycle or OC use. The results suggest that estradiol and/or progesterone affect spontaneous aggregation since it was found to be lowest in the mid-luteal phase. Spontaneous aggregation was significantly lower in women on OCs than in both men and women without OCs. Our findings indicate that fertile age is associated with higher aggregation response capacity of the platelets, possibly to prevent excessive bleeding during menstruation, but this response capacity is not altered during the menstrual cycle or by use of OCs. 相似文献
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