Findings from a systematic review and meta-analysis revealed an increased risk of myocardial infarction and heart failure in patients with multiple sclerosis (MS). The study was published in Multiple Sclerosis and Related Disorders. Subgroup analysis revealed that the risk of heart disease was more predominant in women and younger individuals with MS. Women with MS…
Findings from a study comparing the outcomes following total ankle replacement (TAR) and ankle fusion for patients with hemophilia showed significantly lower pain scores in both groups, according to a new study published in Haemophilia. Ten out of the 11 patients who received ankle fusion successfully demonstrated bony consolidation within 3 months. Subjective outcomes using…
Results from a study examining sleep health in individuals with multiple sclerosis (MS) demonstrated that 76% of participants measured in extreme ranges for at least 2 of 7 sleep domains. Poor sleep quality affected 45% of participants, abnormal sleep timing affected 35%, and pathological daytime sleepiness affected 33%. Investigators calculated median values of 456.3 minutes…
Findings from an investigative study revealed that elevated oxidative stress levels in both mice and humans with Pompe disease impaired the ability of enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA) to correct the causative enzyme deficiency. Correction of oxidative stress using antioxidants in addition to ERT in both mouse and human models…
Findings from a meta-analysis demonstrated greater baseline blood matrix-metalloproteinase-7 (MMP-7) concentrations in patients with untreated idiopathic pulmonary fibrosis (IPF), according to a study published in the European Respiratory Journal. There was a 27% greater risk of disease progression and a 23% increased risk of mortality in patients, and these findings were independent of age, gender,…
Phase 1 ARROW clinical trial results showed that Chinese trial participants with advanced or metastatic RET-mutant medullary thyroid cancer (MTC) demonstrated an objective response rate of 73.1% to treatment with pralsetinib (Gavreto®), according to CStone Pharmaceuticals. Pralsetinib had a 9-month duration of response rate of 100%, and the drug was tolerated well among these individuals.…
Investigators presented a rare case study describing the coexistence of medullary thyroid carcinoma (MTC) and malignant skin melanoma within a single patient’s thyroid following a total thyroidectomy, according to Clinical Case Reports. The tumors were separated within the thyroid with no shared anatomy. Upon microscopic evaluation, one tumor was a multinodular goiter, while the other…
A combination enzyme replacement therapy (ERT), cipaglucosidase alfa/miglustat, demonstrated clinically meaningful motor and respiratory functional improvements in adults with late-onset Pompe disease (LOPD), according to the subgroup analyses of the phase 3 PROPEL trial presented at the World Muscle Society 2021 Virtual Congress. Patients with LOPD who received cipaglucosidase alfa/miglustat demonstrated an improved 6-Minute Walk…
Phenotypic characterization and genetic analysis found that 28 of 63 participants in a Spanish centralized cohort of patients with von Willebrand Disease (VWD) had at least one mutation for type 2N of the disease. Nine individuals had the diagnosis of type 2N VWD, and 19 individuals carried a heterozygous type 2N mutation. Further testing allowed…
Results of a 3-year cross-sectional study indicate that boys with more severe hemophilia A have significantly lower mean bone mineral density (BMD) values than boys with moderate or mild manifestations of hemophilia A (P <.05). Findings showed that 20% of boys with hemophilia A had BMD Z-scores of the lumbar spine between -1 and -2,…
