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Kappa Index Useful for Diagnosing Multiple Sclerosis

Kappa index, or K-index, can be a useful tool for diagnosing multiple sclerosis (MS) and predicting the risk of evolution to MS in patients with clinically isolated syndrome (CIS), according to a new study published in Clinical Immunology. The researchers determined several cut-off values for the K-index to achieve optimal sensitivity and specificity as compared…
DNA genetics

New Capsid Selection Strategy Could Benefit Gene Therapy Development for LAL-D

Researchers at Homology Medicines developed a capsid selection strategy that can allow the use of the best vector to develop gene therapies to treat different genetic diseases including lysosomal storage disorders such as lysosomal acid lipase deficiency (LAL-D). This approach, the researchers said allows them to “embrace a capsid selection rather than a ‘one-capsid-fits-all’ limitation…
Nerve fibre

Novel MRI Biomarker Identifies Remyelinated Lesions in MS

Researchers have discovered a new advanced magnetic resonance imaging (MRI) biomarker for identifying remyelinated lesions in multiple sclerosis (MS) and published their findings in Annals of Neurology. Studies have demonstrated that patients with MS can exhibit different types of lesions characterized by the extent of myelin/axon damage and repair, as well as iron content. There…

Study Sheds Light on Pathology of End-Stage Lung Disease in IPF and CF

Adaptive and innate lymphocyte populations contribute to interleukin (IL)-17A-dependent pathologies in the end-stage of chronic lung diseases such as idiopathic pulmonary fibrosis (IPF) and cystic fibrosis (CF), according to a new study published in Clinical and Translational Immunology. The study also showed that pathogens drive the secretion of IL-17A. IL-17A and IL-22 play an important…

Researchers Uncover Novel Pathology of Amphicrine Phenotype in MTC

Researchers discovered the radiological features and mucin (MUC) immunohistochemical expression patterns of a recent case of amphicrine medullary thyroid carcinoma (MTC) and published their results in Endocrine Pathology. Intra- and extracellular MUC production has been variably documented in benign and malignant thyroid tumors. While the expression and contribution of MUC1 have been significantly studied in…
genetic testing

Case Reports: Low GAA Activity Not Always Caused By Pompe Disease

Researchers presented 2 cases of pediatric patients with Duchenne muscular dystrophy (DMD) and low acid alpha-glucosidase (GAA) activity and high creatinine kinase (CK) levels in a study published in Frontiers in Pediatrics. Typically, low GAA activity is associated with Pompe disease. In these cases, the infants were initially presumed to have Pompe disease. Upon genetic…

MS Severity and Disease Complications Affect Job Retention

A number of different factors appear to play a role in job retention rates for patients with multiple sclerosis (MS), according to a study published in Archives of Physical Medicine and Rehabilitation. The most impactful factors of those studied were related to MS severity and complications with time since diagnosis, fatigue, and more severe symptoms…
thrombosis

Direct Oral Anticoagulants as an Alternative Treatment for SCD

Direct oral anticoagulants compare favorably with vitamin K antagonists in lowering bleeding rates in patients with sickle cell disease (SCD), according to a study published in Blood Advances. A major complication of SCD is the risk of venous thromboembolism, which is associated with a higher risk of mortality. Scientists have discovered that all 3 components…
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