Assessing autosomal aneuploidy in ancient genomes
Trends Genet. 2024 Apr 24:S0168-9525(24)00080-5. doi: 10.1016/j.tig.2024.04.006. Online ahead of print.ABSTRACTUsing genetic methods, aneuploidies can be detected in ancient human remains, which is so far the only way to reliably prove their existence in the past. As highlighted in recent studies by Rohrlach et al. and by Anastasiadou et al., this initial step enables a deeper exploration of the history of rare diseases, encompassing the social and historical contexts of the afflicted individuals.PMID:38664113 | DOI:10.1016/j.tig.2024.04.006 (Source: Trends in Genetics : TIG)
Source: Trends in Genetics : TIG - April 25, 2024 Category: Genetics & Stem Cells Authors: Julia Gresky Source Type: research
Development and characterization of a first-in-class adjustable-dose gene therapy system
CONCLUSION: We report the development of a novel, low-cost therapeutic platform, designed to enable the replacement of subcutaneously administered protein treatments with a single-injection, adjustable-dose gene therapy.PMID:38663689 | DOI:10.1016/j.gene.2024.148500 (Source: Gene)
Source: Gene - April 25, 2024 Category: Genetics & Stem Cells Authors: Alex Goraltchouk Jared Lourie Judith M Hollander H Grace Rosen Atsutaro A Fujishiro Francesco Luppino Kai Zou Alexey Seregin Source Type: research
Assessing autosomal aneuploidy in ancient genomes
Trends Genet. 2024 Apr 24:S0168-9525(24)00080-5. doi: 10.1016/j.tig.2024.04.006. Online ahead of print.ABSTRACTUsing genetic methods, aneuploidies can be detected in ancient human remains, which is so far the only way to reliably prove their existence in the past. As highlighted in recent studies by Rohrlach et al. and by Anastasiadou et al., this initial step enables a deeper exploration of the history of rare diseases, encompassing the social and historical contexts of the afflicted individuals.PMID:38664113 | DOI:10.1016/j.tig.2024.04.006 (Source: Trends in Genetics : TIG)
Source: Trends in Genetics : TIG - April 25, 2024 Category: Genetics & Stem Cells Authors: Julia Gresky Source Type: research
Value of Spinal Infection Treatment Evaluation Score, Pola Classification, and Brighton Spondylodiscitis Score from Decision to Surgery in Patients with Spondylodiscitis: A Receiver-Operating Characteristic Curve Analysis
CONCLUSIONS: The findings suggest that the SITE score is a useful measure and helps clinicians make clinically sound decisions in patients with spondylodiscitis.PMID:38650093 | DOI:10.31616/asj.2023.0317 (Source: Asian Spine Journal)
Source: Asian Spine Journal - April 23, 2024 Category: Orthopaedics Authors: Majid Rezvani Ali Ahmadvand Taravat Yazdanian Parisa Azimi Navid Askariardehjani Source Type: research
Value of Spinal Infection Treatment Evaluation Score, Pola Classification, and Brighton Spondylodiscitis Score from Decision to Surgery in Patients with Spondylodiscitis: A Receiver-Operating Characteristic Curve Analysis
CONCLUSIONS: The findings suggest that the SITE score is a useful measure and helps clinicians make clinically sound decisions in patients with spondylodiscitis.PMID:38650093 | DOI:10.31616/asj.2023.0317 (Source: Asian Spine Journal)
Source: Asian Spine Journal - April 23, 2024 Category: Orthopaedics Authors: Majid Rezvani Ali Ahmadvand Taravat Yazdanian Parisa Azimi Navid Askariardehjani Source Type: research
Value of Spinal Infection Treatment Evaluation Score, Pola Classification, and Brighton Spondylodiscitis Score from Decision to Surgery in Patients with Spondylodiscitis: A Receiver-Operating Characteristic Curve Analysis
CONCLUSIONS: The findings suggest that the SITE score is a useful measure and helps clinicians make clinically sound decisions in patients with spondylodiscitis.PMID:38650093 | PMC:PMC11065507 | DOI:10.31616/asj.2023.0317 (Source: Asian Spine Journal)
Source: Asian Spine Journal - April 23, 2024 Category: Orthopaedics Authors: Majid Rezvani Ali Ahmadvand Taravat Yazdanian Parisa Azimi Navid Askariardehjani Source Type: research
Spontaneous isolated gastric intramural hematoma combined with spontaneous superior mesenteric artery intermural hematoma: a rare case
Gastric intramural hematoma is a rare disease. Here we report a case of spontaneous isolated gastric intramural hematoma combined with spontaneous superior mesenteric artery intermural hematoma. (Source: BMC Geriatrics)
Source: BMC Geriatrics - April 23, 2024 Category: Geriatrics Authors: Zhenxing Zhang, Shan Wang, Kelong Tao, Guolin Zhang, Danling Guo, Yu Zhang and Guangen Xu Tags: Case Report Source Type: research
Exploration of treatment in childhood Langerhans cell histiocytosis based on inflammatory and malignant symptoms: a pilot study
Multisystem childhood Langerhans cell histiocytosis (LCH) patients, especially those with risk organ (RO) involved, had not been satisfactorily treated under the international traditional schemes as high incid... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 23, 2024 Category: Internal Medicine Authors: Hui-ling Lin, Qing-qing Zheng, Ru-lin Huang, Rong Hu, Xiao-dan Liu and Jia-yi Wang Tags: Research Source Type: research
Exacerbated atherosclerosis in progeria is prevented by progerin elimination in vascular smooth muscle cells but not endothelial cells
Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2400752121. doi: 10.1073/pnas.2400752121. Epub 2024 Apr 22.ABSTRACTHutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by the expression of progerin, a mutant protein that accelerates aging and precipitates death. Given that atherosclerosis complications are the main cause of death in progeria, here, we investigated whether progerin-induced atherosclerosis is prevented in HGPSrev-Cdh5-CreERT2 and HGPSrev-SM22α-Cre mice with progerin suppression in endothelial cells (ECs) and vascular smooth muscle cells (VSMCs), respectively. HGPSrev-Cdh5-CreERT2 mice were un...
Source: Atherosclerosis - April 22, 2024 Category: Cardiology Authors: Ignacio Benedicto Rosa M Carmona Ana Barettino Carla Espin ós-Estévez Pilar Gonzalo Rosa M Nevado Miguel de la Fuente-P érez Mar ía J Andrés-Manzano Cristina Gonz ález-Gómez Lo ïc Rolas Beatriz Dorado Sussan Nourshargh Magda R Hamczyk Vicente Andr Source Type: research
