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2 months ago | 
porphyrianews.com | Marisa Wexler |Kalyn N Shelton |Steve Bryson |Marta C. Figueiredo
People with acute intermittent porphyria (AIP) often consume large amounts of simple sugars and fats, which may contribute to metabolic problems, such as being overweight or having high levels of bad cholesterol in their blood, a study reports. “Our study provided valuable insights into the metabolic aspects of AIP, revealing improper dietary habits that may predispose patients to additional pathologies [health problems],” the researchers wrote.
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2 months ago | 
smanewstoday.com | Steve Bryson |Katherine Poinsatte |Marta C. Figueiredo |Sherry Toh
Three men with late-onset spinal muscular atrophy (SMA) undergoing treatment with the approved therapy Evrysdi (risdiplam) were able to conceive with their partners, a case series reported. None of the pregnancies were planned, and the researchers noted there were no missed treatment doses. Among the three, one pregnancy was voluntarily terminated, while the other two men’s partners gave birth to healthy babies.
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2 months ago | 
alsnewstoday.com | Lila Levinson |Lindsey Shapiro |Patricia Inacio |Marta C. Figueiredo
Daily treatment with IPL344 for up to three years was safe and appeared to slow amyotrophic lateral sclerosis (ALS) progression, according to recently published data from a small Phase 2a clinical trial. Patients undergoing treatment gained weight and experienced slower declines in functional abilities and lung function. The treatment also lengthened survival in patients, compared with external placebo groups.
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2 months ago | 
huntingtonsdiseasenews.com | Marisa Wexler |Becky Field |Margarida Maia |Marta C. Figueiredo
Mental health problems are common in Huntington’s disease, but there isn’t much data on patients’ use of psychiatric medications, a review study reports. “Although [neuropsychiatric problems] in [Huntington’s disease] are common, hardly any clinical trials have addressed their treatment,” the study’s researchers wrote.
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Mar 17, 2025 | 
cysticfibrosisnewstoday.com | Jennifer Bleecher |Margarida Maia |Marta C. Figueiredo |Shelby Dell
In the first few days after my double-lung transplant in 2020, I was looking at a hand-held mirror and saw a central venous catheter protruding from the left side of my neck. A large, bulky bandage covered the right side. Little did I know then that the bandage represented something that would change my health and long-term treatment. My right arm and hand were also grossly swollen.
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Mar 11, 2025 | 
hemophilianewstoday.com | Steve Bryson |Marta C. Figueiredo |Margarida Maia |Joe MacDonald
A greater range of motion before surgery is associated with better post-surgical outcomes for people with hemophilia who undergo knee replacement surgery. That’s according to a recent study that also found that having the surgery on both knees at the same time had a negative impact on the overall efficacy of the procedure. The study, “Influencing factors of the outcome of patients with haemophilia after knee replacement–a retrospective study,” was published in BMC Musculoskeletal Disorders.
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Feb 27, 2025 | 
praderwillinews.com | Marisa Wexler |Joana Carvalho |Marta C. Figueiredo |Larry Luxner
Researchers have successfully used the gene-editing tool CRISPR to reactivate certain maternally-inherited genes that can compensate for the loss of the corresponding paternally-inherited genes in Prader-Willi syndrome (PWS). Done using lab-grown human stem cells with a PWS-causing mutation, the work showed that the one-time approach resulted in a sustained effect in the cells, according to the researchers.
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Feb 25, 2025 | 
copdnewstoday.com | Caroline Gainer |Steve Bryson |Marisa Wexler |Marta C. Figueiredo
I remember how hard it was to keep cars, or any other outdoor metal object, clean and looking good when I lived in the steel town of Weirton, West Virginia. That ongoing struggle reminds me of my ongoing battle with chronic obstructive pulmonary disease (COPD). In the late 1960s and early ’70s, nearly all of the steel mills in the upper Ohio Valley were fueled by metallurgical coal.
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Feb 18, 2025 | 
cysticfibrosisnewstoday.com | Lindsey Shapiro |Steve Bryson |Kristin Entler |Marta C. Figueiredo
Treatment with melatonin, a hormone best known for its sleep-promoting role, was found to normalize inflammatory responses to airway infection and reduce the burden of infection-causing bacteria in a mouse model of cystic fibrosis (CF), per new research by U.S. scientists. “Long-term systemic treatment with melatonin is an effective therapy in a CF mouse model that normalizes the response to airway infection,” the researchers wrote.
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Feb 17, 2025 | 
multiplesclerosisnewstoday.com | Leigh Nelson |Marisa Wexler |Ed Tobias |Marta C. Figueiredo
My husband and I are both considering early retirement. We’d discussed it for the past five years but hadn’t made any firm decisions. Last month, we decided that we needed to get serious about planning for it. We met with a financial adviser for retirement planning advice at our investment firm. The meeting lasted about an hour. Lots of questions were asked of us and lots of numbers were discussed.
