Margarida Maia

6 days ago | smanewstoday.com | Margarida Maia

Testing patient DNA with advanced methods like HapSMA — which can “[analyze] … SMN and its surrounding genes” — can reveal otherwise undetectable genetic changes, such as gene conversion, that affect how severe spinal muscular atrophy (SMA) is, according to a study by researchers in the Netherlands. These novel methods may ultimately help in improving treatment for patients, the team noted.

6 days ago | parkinsonsnewstoday.com | Margarida Maia

Nearly 1 in 8 people diagnosed with Parkinson’s disease in Finland within the past couple of decades were later given a different diagnosis, usually within two years, underscoring the need for better clinical criteria and regular checkups. When Parkinson’s and dementia with Lewy bodies, a neurodegenerative disease also marked by a buildup of toxic clumps of misfolded alpha-synuclein protein, were treated as separate diagnoses, the rates of misdiagnoses increased further.

1 week ago | angioedemanews.com | Marisa Wexler |Danita Jones |Andrea Lobo |Margarida Maia

A simple diagnostic score may help distinguish between two types of angioedema — mast cell-mediated angioedema and drug-induced nonallergic angioedema — in people taking angiotensin-converting enzyme (ACE) inhibitors, researchers said. They described the scoring system in the study, “Angiotensin-converting enzyme inhibitor-induced angioedema: Proposal for a diagnostic score,” published in the World Allergy Organization Journal.

1 week ago | fabrydiseasenews.com | Margarida Maia |Lindsey Shapiro |Steve Bryson |Susanna VanVickle

A woman with heart failure due to late-onset Fabry disease received a heart transplant in combination with immunosuppressants and Fabrazyme (agalsidase-beta) to resolve her cardiac symptoms, which didn’t recur after the transplant. “Although the risk of disease recurrence in the transplanted organ appears to be relatively low, this observation requires further investigation with extended follow-up and a larger study sample,” wrote researchers in Poland.

1 week ago | multiplesclerosisnewstoday.com | Margarida Maia |Benjamin Hofmeister |Marisa Wexler

Biostate AI is partnering with the nonprofit Accelerated Cure Project (ACP) to develop a series of artificial intelligence (AI) models that can predict multiple sclerosis (MS) progression and how patients may respond to treatment. As part of the partnership, Biostate AI will use its high-throughput technology to profile RNA reads from ACP’s large collection of MS patient samples. RNA reads can be used as a measure of how active different genes are.