Mutations in STAG2 cause an X ‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

ConclusionWe conclude that mutations inSTAG2 cause a novel constellation of sex ‐specific cohesinopathy‐related phenotypes and are furthermore, essential for neurodevelopment, human growth, and behavioral development.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Source: Journal of Biomedical Nanotechnology - Category: Nanotechnology Authors: Tags: Articles Source Type: research
Conclusion: Comparison of instantaneous velocity streamlines showed a good qualitative agreement with 4-D flow MRI. Quantitative comparison of predicted pressures with pressure measurements revealed a maximum difference of 11 mmHg (−9.7%). Furthermore, our model correctly predicted the reduction of true lumen pressure from 74/115 mmHg pre-TEVAR to 64/107 mmHg post-TEVAR (diastolic/systolic pressures at entry tear level), compared to the corresponding measurements of 72/118 mmHg and 64/114 mmHg. This demonstrates that pre-TEVAR 4D flow MRI can be used to tune boundary conditions for post-TEVAR hemodynamic analyses.
Source: IEEE Transactions on Biomedical Engineering - Category: Biomedical Engineering Source Type: research
Conclusion: C-PCs migrate in response to SDF-1. Exposure to SDF-1 does not significantly alter the unique mRNA profile of C-PCs that make them desirable for cartilaginous tissue repair applications. SDF-1 pretreated mesenchymal progenitors successfully disperse into injured tissues to help facilitate tissue reintegration. PMID: 31744353 [PubMed - as supplied by publisher]
Source: Connective Tissue Research - Category: Research Tags: Connect Tissue Res Source Type: research
Differentiation potential and functional properties of a CD34‑CD133+ subpopulation of endothelial progenitor cells. Mol Med Rep. 2019 Nov 20;: Authors: Bachelier K, Bergholz C, Friedrich EB Abstract Endothelial progenitor cells (EPCs) promote angiogenesis and play an important role in myocardial and vascular repair after ischemia and infarction. EPCs consist of different subpopulations including CD34‑CD133+ EPCs, which are precursors of more mature CD34+CD133+ EPCs and functionally more active in terms of homing and endothelial regeneration. In the present study we analyzed the functional and diffe...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Authors: Taramasso M, Gavazzoni M, Nickenig G, Maisano F Abstract Given the complexity and the heterogeneity of mitral valve anatomy and pathology, different technologies and approaches (including repair and replacement methods) are potentially required to allow specific patient-tailored approaches, addressing each anatomy with the most appropriate device. Since we are still far from having an unbiased and evidence-supported process to select the best treatment for each patient, this review will provide an overview of the elements that should be taken into consideration when selecting the best procedure for each pa...
Source: EuroIntervention - Category: Cardiovascular & Thoracic Surgery Tags: EuroIntervention Source Type: research
Authors: Baumbach A, Dudek D, Baumgartner H, Windecker S, Haude M Abstract The field of valve intervention is rapidly changing. Clinical practice guidelines are based on evidence and practical clinical experience. The randomised trials considered for the guideline recommendations regarding indications for TAVI cover the high-risk and intermediate-risk subgroups of patients. With new evidence for low-risk patients, consideration has to be given to discussing TAVI as the default strategy in the majority of patients. This is a paradigm shift from the established practice. More than ever, the patient will be at the cen...
Source: EuroIntervention - Category: Cardiovascular & Thoracic Surgery Tags: EuroIntervention Source Type: research
Authors: Williams AM, Bolling SF, Latib A PMID: 31746749 [PubMed - in process]
Source: EuroIntervention - Category: Cardiovascular & Thoracic Surgery Tags: EuroIntervention Source Type: research
Authors: Stone GW, Alfieri O PMID: 31746748 [PubMed - in process]
Source: EuroIntervention - Category: Cardiovascular & Thoracic Surgery Tags: EuroIntervention Source Type: research
Endograft limb occlusion is a potential complication of endovascular aneurysm repair (EVAR), being one of the major causes of secondary interventions and rehospitalisation. The aim of this review is to report on the impact of endograft kinking in endograft limb occlusion, as well as on risk factors, prevention, early diagnosis, and management.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
Abdominal compartment syndrome (ACS) is a serious complication after abdominal aortic aneurysm (AAA) repair. The aim was to investigate outcome among subgroups and factors associated with outcome, with emphasis on the duration of intra-abdominal hypertension before treatment.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
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