Results 91 to 100 of about 1,726,403 (273)
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Frontiers in Microbiology, 2019 Antimony (Sb) pollution is a worldwide problem. In some anoxic sites, such as Sb mine drainage and groundwater sediment, the Sb concentration is extremely elevated. Therefore, effective Sb remediation strategies are urgently needed.
Jingxin Li +4 more
doaj +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
A triple negative breast cancer: what it is not!
Breast Cancer: Targets and Therapy, 2012 Suresh B KatakkarRegional Medical Oncology Hematology Leader, Centre for the North, BC Cancer Agency, Prince George, British Columbia, CanadaAbstract: The triple negative cancer is an unusual, and at the same time, a unique entity where the discordance ...
Katakkar SB
doaj
Arthritis Care &Research, EarlyView.Objective Ultrasound (US) has been proposed as a potential tool for assessing skin fibrosis in systemic sclerosis (SSc). However, a large‐scale comparison of US‐based assessment with histologic markers of skin fibrosis has not been reported. We evaluated US‐based skin assessments for their face validity (differentiation between involved SSc and healthy
Ruhani Desai +12 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Knee osteoarthritis (OA) commonly affects individuals with type 2 diabetes (T2DM) and is associated with increased risk of diabetes‐related complications. To better understand potential mechanisms, we examined the association between symptomatic knee OA and glycemic control in individuals with T2DM.
Lauren K. King +10 more
wiley +1 more source
Alternative surgical methods for ptosis in patients with 18p deletion syndrome
International Medical Case Reports Journal, 2017 Sang Beom HanDepartment of Ophthalmology, Kangwon National University Hospital, Kangwon National University Graduate School of Medicine, Chuncheon, South KoreaWe read the article by Xu et al1 entitled “A case of 18p deletion syndrome after ...
Han SB
doaj
Arthritis Care &Research, EarlyView.Objective Several case reports have proposed a potential association between COVID‐19 vaccination and the subsequent development of idiopathic inflammatory myositis (IIM). This study examined prior COVID‐19 vaccination in US veterans who developed new‐onset IIM compared to those without new‐onset IIM.
Caleb Hernández +10 more
wiley +1 more source
Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome
Arthritis Care &Research, EarlyView.Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino +9 more
wiley +1 more source
Annular pancreas in an 11-year-old girl: a case report
International Medical Case Reports Journal, 2017 Suk-Bae Moon Department of Surgery, Kangwon National University School of Medicine, Chuncheon, Republic of Korea Abstract: Annular pancreas (AP) is a rare cause of congenital duodenal obstruction that is usually discovered at the neonatal period, but ...
Moon SB
doaj