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1 month ago | 
pulmonaryhypertensionnews.com | Margarida Maia |Ana Pena |Ana Peña |Katherine Poinsatte |Lindsey Shapiro
Celastrol, a herbal compound used in traditional Chinese medicine, may help prevent pulmonary hypertension associated with bronchopulmonary dysplasia (BPD-PH) by reducing inflammation and protecting lung tissue from damage, a study in rats and lab-grown cells suggests. While these preclinical findings are promising, the compound is still experimental and more research is needed to test it in BPD, a common complication of preterm birth that results when a baby’s lungs aren’t fully developed.
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2 months ago | 
cushingsdiseasenews.com | Noura Costany |Margarida Maia |Ana Pena |Ana Peña
As someone with Cushing’s disease, one of the biggest mistakes I’ve made is trying to have the same type of day that healthy people have, following the same schedules as my friends. Quotes along those lines, such as “We all have the same 24 hours in our day,” left me feeling inadequate about my accomplishments. I tried to work, clean, write, have a social life, take my medicine, keep up with my doctor appointments, exercise, and rest all within those 24 hours.
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Jan 22, 2025 | 
rettsyndromenews.com | Esteban Cerezo |Ana Pena |Ana Peña |Jackie Babiarz |Patricia Inacio
Digestive problems, such as constipation and bloating, affect more than 80% of girls and women with Rett syndrome, a study reveals. The most frequent problems included constipation, difficulties with eating and swallowing, and gas and bloating. More than half of the patients showed irritability due to stomach or gut discomfort. Use of medications was associated with significantly better digestive health.
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Dec 9, 2024 | 
smanewstoday.com | Brianna Albers |Katherine Poinsatte |Steve Bryson |Ana Pena |Ana Peña
If you have SMA or care for someone with the disease, you’ll know what I mean when I say we get sweaty. At first I thought it was just me, but then I read that folks like me have sweaty palms. This moment was one of those that, in hindsight, transformed my understanding of SMA. I wasn’t alone anymore! Something I thought was a personal problem suddenly no longer was. Of course, the problem itself didn’t go away. I still had sweaty palms.
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Nov 5, 2024 | 
dravetsyndromenews.com | Margarida Maia |Meagan Earley |Marta C. Figueiredo |Ana Pena |Ana Peña
In a mouse model study of Dravet syndrome, males were seen to be more vulnerable to abnormal heartbeats and heart deficits in energy-producing mitochondria than female mice. These findings suggest that male Dravet patients may be particularly vulnerable to sudden unexpected death in epilepsy (SUDEP), a fatal seizure complication that is thought to be associated with several factors, including abnormal heartbeats, or arrhythmias.
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Apr 10, 2024 | 
rettsyndromenews.com | Patricia Inacio |Ana Pena |Ana Peña |Aisha I Abdullah |Steve Bryson
The probiotic Lactobacillus plantarum PS128 was found to ease involuntary leg muscle contractions, known as dystonia, in Rett syndrome patients, according to a pilot study that tested the supplement’s impact on neurological outcomes. Noting that Rett syndrome “often involves gastrointestinal symptoms and gut microbiota imbalances,” the researchers had sought to assess the use of PS128 probiotic supplements in a clinical trial involving 36 patients with the rare disease.
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Mar 19, 2024 | 
cysticfibrosisnewstoday.com | Patricia Inacio |Lindsey Shapiro |Ana Pena |Ana Peña |William Ryan
The use of the approved medication Trikafta (elexacaftor/tezacaftor/ivacaftor) was shown to significantly increase weight in people with cystic fibrosis-related diabetes (CFRD) and a low body mass index, or BMI, a measure of body fat, in a new study. The researchers say the study’s findings, which also showed that non-insulin therapies may be safe and effective for cystic fibrosis (CF) patients who also have diabetes, could change the standard of care in CFRD.
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Mar 13, 2024 | 
cushingsdiseasenews.com | Andrea Lobo |Margarida Maia |Marta Costa Figueiredo |Ana Pena |Ana Peña
Individuals with Cushing’s syndrome have a greater buildup of fat around the heart and inside the coronary arteries — the blood vessels that supply blood to the heart — compared with people who don’t have the condition but who are at a higher risk of developing cardiovascular disease, according to a new study from China.
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Mar 8, 2024 | 
fabrydiseasenews.com | Lindsey Shapiro |Marisa Wexler |Jerry Walter |Ana Pena |Ana Peña
A smartphone app, called Fabry App, for remotely assessing Fabry disease was found by patients to be helpful for tracking day-to-day fluctuations in symptoms, while their doctors found it easier to monitor them and identify needs for intervention, a small study conducted in the U.K. shows.
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Feb 22, 2024 | 
cysticfibrosisnewstoday.com | Lindsey Shapiro |Ana Pena |Ana Peña |Marisa Wexler |Margarida Maia
ReCode Therapeutics has launched a Phase 1 clinical trial to evaluate the safety of RCT2100, its investigational genetic medicine for cystic fibrosis (CF), in healthy volunteers and the first group of participants has been dosed. RCT2100 is being developed for CF patients with class I mutations in the CFTR gene, which don’t respond to CFTR modulator therapies. The company plans to seek clearance from the U.S. Food and Drug Administration for a Phase 1 trial involving CF patients.
