Given the results, the investigation of intranasal carbetocin in PWS has been halted. Intranasal carbetocin did not demonstrate clinical benefit for hyperphagia in patients with Prader-Willi syndrome ...
The chronic use of a TGF-β-targeting phosphorodiamidate morpholino oligomer (PMO) and dystrophin exon-skipping PMO reduced muscle fibrosis and loss, restored dystrophin expression in skeletal and ...
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...
Bone marrow flow cytometry is one of the most efficient ways to diagnose or exclude PNH. A patient with a history of cortical vein thrombosis with new-onset pancytopenia was diagnosed with paroxysmal ...
In CIDP, SOC therapies (immunoglobulins/corticosteroids) are burdensome, have variable efficacy, and significant side-effects. Two phase 3 clinical trials, MOBILIZE ...
Approximately 42% of patients showed evidence of SMN1 to SMN2 conversion, confirmed by the presence of SMN1-specific variants downstream of SMN2. To shed more light on the genetic determinants of SMA ...
Individuals with advanced liver disease may also experience significant weight loss due to nausea and poor appetite. Candidates for liver transplantation may need to gain weight to optimize surgical ...
PHOENIX, Arizona—Biomarkers “are a hot topic in myasthenia gravis (MG),” Anna Punga, MD, PhD, said during her keynote speech at the Myasthenia Gravis Foundation of America (MGFA) session of the 2023 ...
In diagnosed cases of cutaneous mastocytosis, investigations to rule out systemic mastocytosis may be appropriate. A young child with a small chest lump and anemia was found to have cutaneous ...
Over 80% achieved a clinically meaningful improvement in at least one of the scales assessed. Treatment with risdiplam over 30 months led to overall clinically meaningful improvement in most adult ...
The primary outcome measures include assessing I-RODS scores at baseline and monitoring variations at 6 and 12 months after enrollment An upcoming observational, noninterventional study aims to assess ...
The levels of NT-proBNP, left ventricular mass index, maximal wall thickness, and E/E′ ratio were higher in patients with worse neurological stages compared to those in the early neurological stages ...