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1 week ago | 
rarediseaseadvisor.com | Ozge Ozkaya
Anti-contactin-1 (CNTN1) antibodies may be a novel biomarker for the diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP), according to a new study published in the scientific journal Cureus. It could also be used to assess the response to treatment. The patient was a 45-year-old male with CIDP and membranous nephropathy, an unusual occurrence, who was positive for anti-CNTN1 antibodies.
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1 week ago | 
rarediseaseadvisor.com | Ozge Ozkaya
There were no significant changes in the levels of a polysialic acid (polySia), a glycoepitope that plays a key role during neuronal development and plasticity, in chronic inflammatory demyelinating polyneuropathy (CIDP), according to a new study published in the journal Scientific Reports. However, the serum levels of PolySia were increased in a mouse model of schizophrenia and patients with the disease.
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1 week ago | 
rarediseaseadvisor.com | Ozge Ozkaya
A CRISPR/Cas9-modified Janus kinase 2 (JAK2) V617F model may be useful to develop new therapies against myeloproliferative neoplasms (MPNs), showed a new study published in the International Journal of Molecular Sciences. To develop lymphoblast cell lines carrying the V617F point mutation in the JAK2p gene, a team of researchers used the CRISPR/Cas9 technology.
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1 week ago | 
rarediseaseadvisor.com | Ozge Ozkaya
Seropositive rheumatoid arthritis (RA) increases the risk of primary biliary cholangitis (PBC), according to a new study published in the scientific journal Clinical and Experimental Gastroenterology. This finding “will help inform future screening guidelines for associated PBC in patients with RA,” the authors wrote.
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1 week ago | 
rarediseaseadvisor.com | Ozge Ozkaya
Linerixibat improves pruritus and pruritus-associated sleep disturbances rapidly and significantly in patients with primary biliary cholangitis (PBC), according to a new study published in the Journal of Hepatology. However, the treatment was also associated with gastrointestinal adverse events, though these rarely led to discontinuation.
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1 week ago | 
rarediseaseadvisor.com | Ozge Ozkaya
Exposure to fedratinib is associated with a reduction in spleen volume and total symptom score responses in patients with myelofibrosis (MF), according to a new study published in the British Journal of Clinical Pharmacology. It does not have a significant effect on safety. The authors of the study said that fedratinib treatment at a dose of 400 mg once a day is appropriate for patients with myelofibrosis regardless of exposure to ruxolitinib.
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1 week ago | 
rarediseaseadvisor.com | Ozge Ozkaya
Prophylactic treatment with cyclophosphamide against graft-versus-host disease following allogeneic hematopoietic stem cell transplantation in patients with myelofibrosis (MF) is “extremely effective,” according to a new study published in the American Journal of Hematology. However, it is associated with delayed engraftment, lower donor granulocyte chimerism, and increased need for additional donor cell infusions, the researchers noted.
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1 week ago | 
rarediseaseadvisor.com | Ozge Ozkaya
There seems to be an inverse correlation between the consumption of alcohol and the risk of developing myasthenia gravis (MG), according to a new study published in the scientific journal Neurology. Smoking and using Swedish snuff at the onset of MG were, however, positively correlated with early-onset MG. “We recognize limitations related to retrospective data and [a] limited number of available controls,” the authors said.
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2 weeks ago | 
rarediseaseadvisor.com | Ozge Ozkaya
Neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) have a negative impact on employment, found a study published in the journal Multiple Sclerosis and Related Disorders. “The study emphasizes the importance of a holistic approach to managing these diseases,” the study team wrote. “Prioritizing adequate disease management, avoidance, and treatment of disability, relapses, and pain is crucial for mitigating employment-related challenges,” they added.
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2 weeks ago | 
rarediseaseadvisor.com | Ozge Ozkaya
The presence of asymptomatic lesions during treatment with rituximab can predict the lack of response to treatment in patients with anti-aquaporin-4 (AQP4) antibody-positive neuromyelitis optica spectrum disorder (NMOSD), according to a new study published in the Annals of Clinical and Translational Neurology. “Early identification of these lesions could guide clinicians in optimizing treatment strategies, including transitioning to alternative therapies,” the study team wrote.
