A survey on preferences and utilities for treatment attributes in spinal muscular atrophy (SMA) type 2 and nonambulatory type 3 revealed that both patients and caregivers value motor function, breathing function, and oral administration in the context of treatments, according to a study published in PharmacoEconomics. “Patients with Type 2 SMA are unable to stand…
If the brain can truly change, that has tremendous implications for several life-altering diseases of the central nervous system, including MS.
A team of German researchers has identified 1H-nuclear magnetic resonance (NMR)-based urinary metabolic profiling as a potential diagnostic and prognostic biomarker in spinal muscular atrophy (SMA), according to a study published in the Orphanet Journal of Rare Diseases. One of the major problems hampering the treatment of SMA is that physicians cannot reliably predict disease…
Japanese researchers describe the rare case of a patient diagnosed with breast metastasis of medullary thyroid carcinoma.
Chinese researchers described the role of genome sequencing in diagnosing dystrophinopathies, such as DMD, in a case study.
We discuss the merits and challenges of alpha-1 antitrypsin deficiency (AATD) screening and genetic counseling.
A group of Polish researchers conducted a study on the feasibility of telerehabilitation for patients with DMD during the COVID-19 pandemic.
Epidemiological studies have revealed that patients with alpha-1 antitrypsin deficiency (AATD) have a larger population in geographic areas which report a higher incidence of COVID-19 and mortality, according to a study published in the Journal of Clinical Medicine. The geographical overlap between AATD patients and patients with COVID-19 suggests that there may be an association…
Therapies under investigation for Alagille syndrome would offer physicians the means to target defective areas in a more focused manner.
As we look over the evolution of medicine, we see we have gone from what can be described as crude experimentation in ancient times to more sophisticated ways of managing the signs and symptoms of a disease in the past century. The effort to dig deeper through the layers of a disease to reach its…
