A newly published study in Plos Genetics has revealed that copper (Cu) transporter ATP7B is essential for the normal entry of Cu into the brain during postnatal development in mice. Wilson disease (WD) caused by mutations in the Cu-transporter ATP7B. The study also found that the loss of ATP7B function results in morphological changes in…
A recently published study in NPJ Precision Oncology has suggested that all patients with KIT/PDGFRA-wildtype gastrointestinal stromal tumors (GISTs) should be offered germline testing regardless of their syndromic features history. The study also suggested that identifying pathogenic/likely pathogenic (P/LP) variants in unspecified genes in tumor-only sequencing of GISTs might indicate germline testing. Gastrointestinal stromal tumors are the…
Programmed death-ligand 1 (PD-L1) expression can predict event-free survival in diffuse large B-cell lymphoma (DLBCL) cases leading to poor prognosis, a new study published in The International Journal of Biological Markers revealed. The study found a significant association of PD-L1 expression with the elevated pre-treatment LDH level but not with age, gender, stage, or the DLBCL subtype.…
A recently published study in Multiple Sclerosis and Related Disorders has found decreased IQ scores in patients with neuromyelitis optica spectrum disease (NMOSD) and multiple sclerosis (MS) compared to the control group. The intelligence quotient (IQ) measures a person’s cognitive abilities, including understanding, learning, and thinking, the researchers noted. There is a significant amount of research…
Age strongly influences the scoliosis angle, a recent study published in Neuromuscular Disorders has revealed. Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations in the survival motor neuron one gene (SMN1), resulting in weakness and muscle deterioration and subsequently leading to several orthopedic complications. Patients with type 2 SMA generally can sit…
Motor end-plate (MEP) analysis of muscle biopsies is much more effective in diagnosing immune-mediated myasthenia gravis (MG) for seronegative patients with myasthenia-like symptoms, a new study published in Elsevier’s Journal of the Neurological Sciences found. The definitive diagnosis of MG is difficult as patients complaining about MG-like symptoms are seronegative for the routine acetylcholine receptor (AChR) and…
A recent study published in European Neurology has revealed that a subgroup of young patients with secondary progressive multiple sclerosis (SPMS) had a higher frequency of radiological disease activity (RDA) unrelated to its clinical symptomatology. Over 50% of patients with relapsing-remitting multiple sclerosis (MS) eventually develop secondary progressive multiple sclerosis (SPMS), characterized by gradual worsening and irreversible…
Positron Emission Tomography/Magnetic Resonance (PET/MR) can be a viable imaging technique for chimeric antigen receptor (CAR) T-cell therapy assessment in large B-cell lymphoma (LBCL), a recently published study in Cancer Imaging showed. CD19-targeted CAR T-cells have effectively treated relapsed/ refractory (r/r) large B-cell lymphomas (LBCL), the researchers noted. Currently, there is no study utilizing 18F-FDG positron emission…
Treatment with efgartigimod in patients with myasthenia gravis (MG) has resulted in significant and expeditious health-related quality-of-life (HRQoL) improvements, a new study published in the Journal of Neurology revealed. Efgartigimod alfa, also known as efgartigimod, is a new antibody fragment and the first of its kind to be developed as a neonatal Fc receptor (FcRn) antagonist. Efgartigimod…
A newly published study in the journal Multiple Sclerosis and Related Disorders has revealed no evidence of aquaporin-4 (AQP4) seropositivity or AQP4 serum titer levels in predicting the disease course of neuromyelitis optica spectrum disorder (NMOSD). Neuromyelitis optica spectrum disorder (NMOSD) is an uncommon autoimmune inflammatory disease affecting the central nervous system. Disability accumulation mainly occurs during…
