Cep290 and the Primary Cilium- Understanding the Protein\u27s Role in Ciliary Health and Disease

Mutations in CEP290 are associated with phenotypes ranging from early onset retinal degeneration to embryonic lethal, multisystem disease. The association of CEP290 with disease in multiple tissues is believed to be due to its role in stabilizing the primary cilium, an organelle found on almost every cell in the body whose involvement in human health and disease has only recently been identified. Like many ciliary proteins, CEP290’s exact function in this structure and how mutations affecting the protein lead to disease remains relatively unclear. Here, a proposed mechanism of CEP290-associated disease pathogenesis is explored, finding severity of CEP290-associated disease correlates with the amount of functional CEP290 protein predicted to result from a given patient’s genotype. In addition, a potential interaction between CEP290 and TTBK2, a kinase recently discovered to traffic to the base or the primary cilium before the onset of ciliogenesis, was observed, providing insight into a role of CEP290 in the early stages of cilium formation

Przezskórne zamknięcie uszka lewego przedsionka przy użyciu okludera Amplatzer® Cardiac Plug u pacjentów z migotaniem przedsionków i wysokim ryzykiem udaru mózgu - wczesne doświadczenia

Background: Atrial fibrillation is the most common arrythmia in patients beyond 65 years of age. Several of those patients have contraindications to coumadin treatment. Ninety percent of atrial thrombi related to atrial fibrillation are found in the left atrial appendage. Aim: We present our early experience with the left atrial appendage transcatheter closure using the Amplatzer® Cardiac Plug. Methods: Transcatheter closure was performed in general anaesthesia and under transoesophageal echocardiography control in three patients aged 69, 73 and 61 years (two female). All had atrial fibrillation with high risk of thromboembolic events (CHADS2 score ≥ 2 points). In all of them coumadin treatment was contraindicated. Results: The procedure time was 112, 109 and 60 min (fluoroscopy time: 25, 29 and 12,5 min). The Amplatzer® Cardiac Plugs of 24, 26 and 22 mm were implanted successfully and without complications. The day after, transthoracic echocardiogram revealed proper position of the implant and complete occlusion of the appendage in all patients. The patients were discharged on antiplatelet treatment. Conclusion: Transcatheter left atrial appendage closure with the Amplatzer® Cardiac Plug may be a promissing therapeutic option for patients with atrial fibrillation-related high risk of thromboembolic events and with contraindications to anti-vitamin K treatment

The Eighteenth Data Release of the Sloan Digital Sky Surveys: Targeting and First Spectra from SDSS-V

The eighteenth data release of the Sloan Digital Sky Surveys (SDSS) is the first one for SDSS-V, the fifth generation of the survey. SDSS-V comprises three primary scientific programs, or "Mappers": Milky Way Mapper (MWM), Black Hole Mapper (BHM), and Local Volume Mapper (LVM). This data release contains extensive targeting information for the two multi-object spectroscopy programs (MWM and BHM), including input catalogs and selection functions for their numerous scientific objectives. We describe the production of the targeting databases and their calibration- and scientifically-focused components. DR18 also includes ~25,000 new SDSS spectra and supplemental information for X-ray sources identified by eROSITA in its eFEDS field. We present updates to some of the SDSS software pipelines and preview changes anticipated for DR19. We also describe three value-added catalogs (VACs) based on SDSS-IV data that have been published since DR17, and one VAC based on the SDSS-V data in the eFEDS field.Comment: Accepted to ApJ

The eighteenth data release of the Sloan Digital Sky Surveys : targeting and first spectra from SDSS-V

The eighteenth data release of the Sloan Digital Sky Surveys (SDSS) is the first one for SDSS-V, the fifth generation of the survey. SDSS-V comprises three primary scientific programs, or "Mappers": Milky Way Mapper (MWM), Black Hole Mapper (BHM), and Local Volume Mapper (LVM). This data release contains extensive targeting information for the two multi-object spectroscopy programs (MWM and BHM), including input catalogs and selection functions for their numerous scientific objectives. We describe the production of the targeting databases and their calibration- and scientifically-focused components. DR18 also includes ~25,000 new SDSS spectra and supplemental information for X-ray sources identified by eROSITA in its eFEDS field. We present updates to some of the SDSS software pipelines and preview changes anticipated for DR19. We also describe three value-added catalogs (VACs) based on SDSS-IV data that have been published since DR17, and one VAC based on the SDSS-V data in the eFEDS field.Publisher PDFPeer reviewe