Physicians

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…

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…

Stroke

Prophylactic Hydroxyurea Linked With Reduced Stroke Risk in SCD

Prophylactic use of hydroxyurea in children with sickle cell disease (SCD) significantly reduces middle cerebral artery blood velocity as assessed by transcranial doppler ultrasound (TCD), thus potentially reducing stroke risk in these patients, as published in the Journal of Clinical Medicine. The researchers provided further evidence supporting the use of hydroxyurea in patients with SCD,…

Study Elucidates Pathogenesis of Z-AAT-Associated Lung Disease

Researchers identified a mechanism that may be responsible for the toxic gain of function of Z-AAT, the most common form of alpha-1 antitrypsin (AAT) causing AAT deficiency (AATD), and published their results in JCI Insights. “The findings of this study will contribute to elucidating more details in the pathogenesis of Z-AAT-associated lung diseases,” they wrote.…

genome

Broader Genomic Screening Detects Risk of MTC

Broader screening for pathogenic or likely pathogenic variants associated with endocrine tumor syndromes allows the detection of people at risk of developing the diseases, according to a new study published in BMC Medicine. Screening also results in the uptake of risk management and facilitates relevant diagnoses. “Further research will be necessary to continue to determine…

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