Диференційна діагностика жінок з полікістозною та мультіфолікулярною стукрурою яєчників

Синдром полікістозних яєчників (СПКЯ) є найчастішою ендокринопатією у жінок репродуктивного віку як в Україні ,так і за кордоном і становить гетерогенну групу порушень із широкою клінічною і біохімічною варіабельністю. Частота СПКЯ в популяції складає від 4 до 15 % і зустрічається однаково часто в різних етнічних групах: в Україні – від 0,6 до 11 %, у країнах ближнього зарубіжжя -1,8-11%, в Європі - 15-20%, в США - 6-10%.Більшість пацієнток репродуктивного віку з СПКЯ страждають на безпліддя, частота якого складає 35-74%

Mitral valve repair and redo repair for mitral regurgitation in a heart transplant recipient

A 37-year-old man with end-stage idiopathic dilated cardiomyopathy underwent an orthotopic heart transplant followed by a reoperation with mitral annuloplasty for severe mitral regurgitation. Shortly thereafter, he developed severe tricuspid regurgitation and severe recurrent mitral regurgitation due to annuloplasty ring dehiscence. The dehisced annuloplasty ring was refixated, followed by tricuspid annuloplasty through a right anterolateral thoracotomy. After four years of follow-up, there are no signs of recurrent mitral or tricupid regurgitation and the patient remains in NYHA class II. Pushing the envelope on conventional surgical procedures in marginal donor hearts (both before and after transplantation) may not only improve the patient’s functional status and reduce the need for retransplantation, but it may ultimately alleviate the chronic shortage of donor hearts

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

BACKGROUND: The major genetic risk factor for late onset Alzheimer's disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants. OBJECTIVE: To identify genetic factors that, next to APOE-ɛ4 homozygosity, contribute to the development of AD. METHODS: We identified a family with nine AD patients spanning four generations, with an inheritance pattern suggestive of autosomal dominant AD, with no variants in PSEN1, PSEN2, or APP. We collected DNA from four affected and seven unaffected family members and performed exome sequencing on DNA from three affected and one unaffected family members. RESULTS: All affected family members were homozygous for the APOE-ɛ4 allele. Statistical analysis revealed that AD onset in this family was significantly earlier than could be expected based on APOE genotype and gender. Next to APOE-ɛ4 homozygosity, we found that all four affected family members carried a rare variant in the VPS10 domain of the SORL1 gene, associated with AβPP processing and AD risk. Furthermore, three of four affected family members carried a rare variant in the TSHZ3 gene, also associated with AβPP processing. Affected family members presented between 61 and 74 years, with variable presence of microbleeds/cerebral amyloid angiopathy and electroencephalographic abnormalities. CONCLUSION: We hypothesize that next to APOE-ɛ4 homozygosity, impaired SORL1 protein function, and possibly impaired TSHZ3 function, further disturbed Aβ processing. The convergence of these genetic factors over several generations might clarify the increased AD penetrance and the autosomal dominant-like inheritance pattern of AD as observed in this family

Analyzing Local Carbon Dioxide and Nitrogen Oxide Emissions From Space Using the Divergence Method: An Application to the Synthetic SMARTCARB Dataset

Since the Paris Agreement was adopted in 2015, the role of space-based observations for monitoring anthropogenic greenhouse gas (GHG) emissions has increased. To meet the requirements for monitoring carbon dioxide (CO2) emissions, the European Copernicus programme is preparing a dedicated CO2 Monitoring (CO2M) satellite constellation that will provide CO2 and nitrogen dioxide (NO2) observations at 4 km2 resolution along a 250 km wide swath. In this paper, we adapt the recently developed divergence method to derive both CO2 and nitrogen oxide (NOx) emissions of cities and power plants from a CO2M satellite constellation by using synthetic observations from the COSMO-GHG model. Due to its long lifetime, the large CO2 atmospheric background needs to be removed to highlight the anthropogenic enhancements before calculating the divergence. Since the CO2 noise levels are large compared to the anthropogenic enhancements, we apply different denoising methods and compare the effect on the CO2 emission estimates. The annual NOx and CO2 emissions estimated from the divergence maps using the peak fitting approach are in agreement with the expected values, although with larger uncertainties for CO2. We also consider the possibility to use co-emitted NOx emission estimates for quantifying the CO2 emissions, by using source-specific NOx-to-CO2 emission ratios derived directly from satellite observations. In general, we find that the divergence method provides a promising tool for estimating CO2 emissions, alternative to typical methods based on inverse modeling or on the analysis of individual CO2 plumes

Long-term survival after mitral valve surgery for post-myocardial infarction papillary muscle rupture

Background: Papillary muscle rupture (PMR) is a rare, but dramatic mechanical complication of myocardial infarction (MI), which can lead to rapid clinical deterioration and death. Immediate surgical intervention is considered the optimal and most rational treatment, despite high risks. In this study we sought to identify overall long-term survival and its predictors for patients who underwent mitral valve surgery for post-MI PMR. Methods: Fifty consecutive patients (mean age 64.7 +/- 10.8 years) underwent mitral valve repair (n = 10) or replacement (n = 40) for post-MI PMR from January 1990 through May 2014. Clinical data, echocardiographic data, catheterization data, and surgical data were stored in a dedicated database. Follow-up was obtained in June of 2014; mean follow-up was 7.1 +/- 6.8 years (range 0.0-22.2 years). Univariate and multivariate Cox proportional hazard regression analyses were performed to identify predictors of long-term survival. Kaplan-Meier curves were compared with the log-rank test. Results: Kaplan-Meier cumulative survival at 1, 5, 10, 15, and 20 years was 71.9 +/- 6.4%, 65.1 +/- 6.9%, 49.5 +/- 7.6%, 36.1 +/- 8.0% and 23.7 +/- 9.2%, respectively. Univariate and multivariate analyses revealed logistic EuroSCORE >= 40% and EuroSCORE II >= 25% as strong independent predictors of a lower overall long-term survival. After removal of the EuroSCOREs from the model, preoperative inotropic drug support and mitral valve replacement (MVR) without (partial or complete) preservation of the subvalvular apparatus were independent predictors of a lower overall long-term survival. Conclusions: Logistic EuroSCORE >= 40%, EuroSCORE II >= 25%, preoperative inotropic drug support and MVR without (partial or complete) preservation of the subvalvular apparatus are strong independent predictors of a lower overall long-term survival in patients undergoing mitral valve surgery for post-MI PMR. Whenever possible, the subvalvular apparatus should be preserved in these patients

Neutron-capture gamma-ray study of levels in Ba135 and description of nuclear levels in the interacting-boson-fermion model

We have performed neutron-capture gamma-ray studies on natural and enriched targets of 134Ba in order to investigate the nuclear levels of 135Ba. The low-energy level spectra were compared with the calculations using the interacting-boson-fermion model (IBFM) and the cluster-vibration model. The level densities up to 5 MeV that are calculated within the IBFM are in accordance with the constant temperature Fermi gas model. From the spin distribution we have determined the corresponding spin cutoff parameter σ and compared it to the prediction from nuclear systematics

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally important in clinical trials of such agents to have a clear understanding of both the natural history of CDG and the corresponding burden of disability suffered by patients. To date, no multicentre studies have attempted to document the natural history of CDG. This is in part due to the lack of a reliable assessment tool to score CDG’s diverse clinical spectrum. Based on our earlier experience evaluating disease progression in disorders of oxidative phosphorylation, we developed a practical and semi-quantitative rating scale for children with CDG. The Nijmegen Paediatric CDG Rating Scale (NPCRS) has been validated in 12 children, offering a tool to objectively monitor disease progression. We undertook a successful trial of the NPCRS with a collaboration of nine experienced physicians, using video records of physical and neurological examination of patients. The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions