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6 days ago | 
smanewstoday.com | Steve Bryson
Digital PCR, which simultaneously detects SMN1 gene defects and the number of SMN2 copies to diagnose spinal muscular atrophy (SMA) in newborn screening programs, matches the accuracy of standard methods, but is faster and less costly, a study reports. The new technique was also able to detect one copy of SMN1 in healthy newborns, which standard methods cannot do, supporting a diagnosis of SMA in infants who carry one defective SMN1 copy plus other disease-causing mutations.
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6 days ago | 
cushingsdiseasenews.com | Steve Bryson
Surgeons used ultrasound to successfully remove a pituitary tumor that was undetectable by MRI to cure a 55-year-old woman of Cushing’s disease, a case study reported. The case “suggests the potential utility of ultrasound in MRI-negative Cushing’s disease,” the researchers wrote.
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1 week ago | 
parkinsonsnewstoday.com | Steve Bryson
Switching actions and stopping movements involve two distinct cognitive motor processes, according to a study that combined computer modeling with tasks performed by healthy people. The findings have implications for people with Parkinson’s disease, who experience longer reaction times and delays when they want to start, stop, or switch movements, the researchers said.
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1 week ago | 
cysticfibrosisnewstoday.com | Steve Bryson
Long-term Trikafta treatment led to improved lung function, fewer respiratory symptoms, and lower sweat chloride levels — elevated levels are a key hallmark of cystic fibrosis (CF) — in children with CF, ages 6 to 11, according to new findings from a two-year extension study. Trikafta was generally well tolerated, with a safety profile consistent with that of the parent clinical trial and among patients in older age groups, the data showed.
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1 week ago | 
gaucherdiseasenews.com | Steve Bryson
Gaucher disease doesn’t seem to have a major impact on conception, pregnancy, and childbirth, according to a study of women in five European countries. While half the women of reproductive age had irregularities in their menstrual cycles, only a few had difficulties conceiving. In some cases, however, problems with conception emerged as a significant factor linked to bleeding during pregnancy and childbirth.
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1 week ago | 
pulmonaryfibrosisnews.com | Steve Bryson
A cancer immunotherapy known as ipilimumab was able to reduce scar formation and promote tissue regeneration in the lungs of a mouse model of idiopathic pulmonary fibrosis (IPF). Treatment boosted the immune system’s ability to clear senescent cells, or those that no longer divide or grow but accumulate in the lungs of IPF patients, thereby promoting inflammation and scarring.
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2 weeks ago | 
multiplesclerosisnewstoday.com | Steve Bryson
The thyroid hormone thyroxine, or FT4, may play an indirect role in the development of multiple sclerosis (MS), which seems to be mediated by certain immune cells, a study suggests. “Future investigations should explore how these immune cells modulate MS onset and progression in the context of thyroid dysfunction, and how targeting these cells could lead to innovative MS interventions,” researchers wrote.
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2 weeks ago | 
rettsyndromenews.com | Steve Bryson
NLX-101 improves breathing and cognitive function in a female mouse model of Rett syndrome, a study found. The potential therapy activates the receptors that bind serotonin, a signaling molecule found at low levels in the brains of Rett patients. “This work provides compelling evidence of the therapeutic potential of targeting [serotonin] receptors to improve cognitive function in patients with [Rett] while supporting its respiratory-rescue properties,” the researchers wrote.
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2 weeks ago | 
parkinsonsnewstoday.com | Steve Bryson
A newly developed test was able to distinguish — with an accuracy of 95% — between individuals with and without Parkinson’s disease, using samples of cerebrospinal fluid (CSF), the liquid surrounding the brain and spinal cord, according to a new study from Germany. The researchers noted that Parkinson’s often is not diagnosed until the disease is in its later stages, and its hallmark symptoms, like tremor and walking problems, are more evident.
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2 weeks ago | 
multiplesclerosisnewstoday.com | Steve Bryson
The Patient-Centered Outcomes Research Institute (PCORI) has awarded the Cleveland Clinic $6.7 million to identify optimal treatment strategies for people with relapsing-remitting multiple sclerosis (RRMS). The funds will support the extension study of the multicenter DELIVER-MS (NCT03535298) clinical trial.
