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  2. A DNA sequencing technology called next-generation sequencing (NGS) may be used to detect tuberculosis (TB) rapidly and accurately — which could help in distinguishing it from sarcoidosis, a study suggests. While tuberculosis and sarcoidosis share many symptoms, the therapies for the two diseases differ greatly, according to researchers. “If TB is misdiagnosed as [sarcoidosis], the misuse of high-dose corticosteroids will promote the spread of … infection, leading to serious consequences for the patient,” they wrote. “Thus, a rapid and accurate differential diagnosis of these two diseases is critical for the patient prognosis.” The results of this study suggest that next-generation sequencing may aid clinicians in diagnosing tuberculosis versus sarcoidosis, the researchers said. Recommended Reading January 18, 2017 News by Joana Fernandes, PhD Similarities Between Sarcoidosis and Tuberculosis Make Diagnosis Difficult, Study Says The study, “Rapid discrimination between tuberculosis and sarcoidosis using next-generation sequencing,” was published in the International Journal of Infectious Diseases. Tuberculosis is caused by infection with a bacterium called Mycobacterium tuberculosis, and one hallmark symptom is cough. In areas where cases of tuberculosis are frequent, the similarity in symptoms between the two diseases can make it challenging for healthcare providers to properly diagnose sarcoidosis. Therefore, improved diagnostic tests are needed to help distinguish between the two diseases, the researchers said. Now, researchers in China investigated whether NGS, an approach that rapidly sequences entire genomes, could provide a good strategy to detect M. tuberculosis. Its small genome, comprising about 4,000 genes, “is well suited to NGS,” the investigators wrote. A total of 91 patients were enrolled; they had been diagnosed at a mean age of 52. Based on traditional diagnostic methods, 44 patients had tuberculosis and 47 had sarcoidosis. All of the individuals had granulomas, or clumps of immune cells — a shared feature of TB and sarcoidosis. Patients with TB were treated with anti-tuberculosis medications while patients with sarcoidosis received prednisone, a corticosteroid. Samples for NGS were pieces of tissue obtained from patients during surgery or biopsy, rather than sputum — a mixture of saliva and mucus coughed up from the airways that is traditionally used for the diagnosis of tuberculosis. Using the tissue allowed researchers to provide a faster diagnosis. In a first analysis, the M. tuberculosis genome was detected in 51 patients (56%). Of these, 38 individuals (74%) had been clinically diagnosed with tuberculosis. Of the 40 patients in whom the M. tuberculosis genome was not detected, six (15%) had been clinically diagnosed with TB. The amount of data generated by NGS should cover more than 80% of the genome as per generally accepted standards. However, among the 51 patients in whom the M. tuberculosis genome was detected, only 18 (35%) reached this standard. While all had received a clinical diagnosis of tuberculosis, the current approach had a sensitivity of 0f 40%, meaning it was providing a large proportion of false negatives, diagnosing tuberculosis patients as not having the condition. Recommended Reading March 19, 2018 News by Larry Luxner Genome Sequencing and Its Clinical Potential Focus of NYC Rare Disease Day Event Therefore, the researchers progressively reduced the coverage threshold to 15%, which balanced the accurate detection of tuberculosis and non-TB cases. Using this approach, the proportion of sarcoidosis patients who were accurately diagnosed with the condition dropped slightly from 100% to 81.8%, but the proportion of tuberculosis patients accurately diagnosed as such increased to 95.7%. “NGS is efficient with regard to time and could be a potentially powerful and useful novel diagnostic method for TB,” the team wrote. The researchers also described the cases of two patients in more detail. The first was a 56-year-old man who would be excluded from a diagnosis of tuberculosis based on sequencing data covering more than 80% of the genome. With the threshold of 15%, the patient was diagnosed with TB and was cured after receiving anti-tuberculosis treatment. The second patient was a 73-year-old woman who was diagnosed with tuberculosis based on close examination of a piece of the patient’s tissue. However, based on the results of NGS, the patient was finally diagnosed with sarcoidosis, for which she received prednisone. Her symptoms improved after one year of treatment. The misuse of corticosteroids may promote the spread of M. tuberculosis infection, which could have serious consequences for the patient, the researchers noted. These cases illustrated how the right diagnosis is key to ensure proper treatment. “This study established an improved NGS strategy for rapidly distinguishing patients with TB from those with [sarcoidosis] and has potential clinical benefits,” they concluded. The post DNA Sequencing May Help ID Tuberculosis Versus Sarcoidosis appeared first on Sarcoidosis News. Link naar het originele artikel
  3. “You really should get that bump checked out.” It was September 2014, just after Labor Day, and a friend was pointing out the obvious. The bump, which I thought was just a rash, seemed to have no intention of going away. I didn’t think much of it at first, but after a few weeks of applying over-the-counter cream to no avail, I knew it was time to see a doctor. I was lucky in many ways; 2014 came at the tail end of a traumatic few years, but I found a dermatologist near my home who was able to schedule me for an immediate appointment. After determining what it wasn’t, the dermatologist sent me out for chest X-rays. I couldn’t understand how a bump on the nose turned into a scan of my chest, but that doctor had a suspicion that ultimately was correct — one that dramatically changed my life. Recommended Reading August 2, 2021 Columns by Charlton Harris The Biggest Challenge of Sarcoidosis Is Right There in the Mirror It was almost exactly how the Mayo Clinic describes it: “Many people with sarcoidosis have no symptoms, so the disease may be discovered only when a chest X-ray is done for another reason.” In my case, the bump was the reason, and the X-ray confirmed it. I had sarcoidosis, with the damaged lungs to prove it. From there, my story resembles that of many others. The last seven years have seen me go to more than 20 doctors for dozens of medical appointments and scans, and take countless pills. (After I realized I take more than 100 pills monthly, I decided to stop counting.) I do all of this just to have a chance at a “normal” life. The hard part, hard fought One of the most important things I have needed to do is simply accept that I have sarcoidosis. For many of us, this is hard to do. After all, the medical texts tell us that many people go into remission within the first few years. That hasn’t been my story, and I have found it helpful, if not crucial, to focus on my care in a thoughtful and intentional way. I hope that one day my sarcoidosis will go into remission, but I plan to prepare for it to be a part of the rest of my life. I accept this to be my most likely reality. But I can continue to fight for a different outcome. I can accept that I’m likely to have sarcoidosis for the rest of my life, but I’m equally determined to fight it for the rest of my life, too. How do I fight? Well, to be honest, the fight changes from day to day. Sometimes, the fight is just getting up on those days when that odd, dull pain decides to visit. Other days, the fight requires me to push my body beyond what doctors say I should be able to do — like going on a long run. Most often, the fight is simply deciding to move forward with grace and acceptance. It is easy to be mentally and physically drained by this disease. Sarcoidosis is unrelenting and unforgiving. Unlike me, sarcoidosis never seems to get tired. Sometimes I wake up and it takes a few minutes to truly know how I feel. Or rather, how sarcoidosis is going to let me feel. So, I’ve learned that if I’m not ready to fight every day in some way, then sarcoidosis will win the day. For my fellow sarcoidosis fighters, whether you call yourself a “survivor,” a “warrior,” a “snowflake,” a “fighter,” or any other term, I see you and I salute you. And since we also need to be our own cheerleaders, for my seven-year anniversary, I also want to salute myself. It has taken a while for me to get here and to learn how to move forward, but I feel like I’m blessed beyond measure. Here’s to another year of accepting — but keeping up the fight, too. *** Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to sarcoidosis. The post I Accept My Disease, But I Intend to Keep Fighting It appeared first on Sarcoidosis News. Link naar het originele artikel
  4. Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation — are organizing fundraisers to help young researchers find treatments for the approximately 7,000 known rare diseases. Rob Long, executive director of Uplifting Athletes, attends the Global Genes’ 8th Annual RARE Champions of Hope Celebration at Sheraton San Diego and Marina on September 20, 2019. (Photo by Mike McGinnis/Getty Images) “We can really generate genuine awareness for the rare disease community through the platform of athletics,” Robert Long, the executive director of Uplifting Athletes, said in a video interview. “We have so many people that support us solely based on the sports aspect of what we do and that provides us the opportunity to educate them about the needs of the rare disease community,” said Long, a former Syracuse punter who had his career cut short because of a rare brain cancer. In the past three years, Uplifting Athletes has awarded $440,000 in grants to more than 20 scientists as part of its Young Investigator Draft, which is modeled after the NFL Draft for professional football teams in the U.S. This draft selects investigators from the U.S. and Canada in the early stages of their research careers who are working on rare diseases. A patient advocacy group nominates an eligible researcher, and the scientific advisory council then grades each investigator according to a rubric that focuses on project feasibility and the relevant education and training of the applicant. The impact the research will make in the rare disease community also is a key focus. Awards will go to the top applicants, the number of which depends on available funding. Applications for 2o22 are now open; the deadline to apply is Nov. 18, and winners will be announced by the end of the year. The grant is for one year, with a minimum award of $20,000, half of which is funded by Uplifting Athletes and the other half by the nominating group. The 2021 “draft class” included research focusing on diseases such as Charcot-Marie-Tooth disease, blinding retinal diseases, and DDX3X syndrome, a recently discovered neurodegenerative disorder that typically occurs in females and is associated with developmental delays and autism spectrum disorder. Uplifting Athletes also makes an effort to include researchers from diverse backgrounds as part of its Underrepresented Researchers in Medicine initiative, which began in 2020. Through this program, the advisory council ensures at least one project from underrepresented researchers is selected. “What we’re trying to accomplish is creating more diversity and equity in the research space, and providing opportunities to researchers from underrepresented backgrounds to be celebrated amongst their peers through the investigator draft,” Long said. Garrett Hopkin, a boy with Niemann-Pick disease types A and B, meets with Buffalo Bills quarterback Josh Allen. (Photo courtesy of Uplifting Athletes) Uplifting Athletes was started in 2003 after former Penn State football player Scott Shirley’s father was diagnosed with kidney cancer, which is classified as a rare disease by the National Institutes of Health because it affects fewer than 200,000 people in the U.S. To raise money for research into rare cancers, Shirley and his Penn State teammates opened their summer weight training to the public; they called it Lift for Life and raised $13,000 as a result. The next year, they raised $38,000. Uplifting Athlete’s primary funding source comes from its chapters, which host events on campus, such as Lift for Life, now the oldest program of the nonprofit. Until 2015, each college campus was responsible for working with a patient advocacy organization for a specific rare disease. The University of Washington football team, for example, had started its chapter to raise money and awareness for pediatric multiple sclerosis, since the father of one of the team’s offensive linemen had the adult form of the disease. As the organization grew larger, however, it was difficult for Long and his small team of employees to stay on top of relationships with more than 20 nonprofits. He also found it made it difficult to stay on message with a broad mission of serving all rare diseases. So, the Uplifting Athlete chapters now pool their monies together to support the larger organization and the scientists in the Young Investigator Draft. “That was a more impactful way to utilize the funding and support where we could point specifically to the researchers and the research that we were funding, as opposed to just passing it through for different organizations and different amounts,” Long said. Uplifting Athletes is using the millions of eyes that watch college football to their advantage by bringing awareness to the underrepresented rare disease community. Players at participating universities wear patches on their uniforms during spring games. During the season, some will paste Uplifting Athletes stickers on their helmets. Awareness also has been spread as some of the players go into the NFL. A dozen players sport custom Uplifting Athletes cleats every December as part of the NFL’s My Cause My Cleats campaign, which allows players to support charities by wearing unique cleat designs. The “Uplifting” part of the organization’s name refers to the collegiate players as well, as the nonprofit helps its student-athletes learn leadership skills after they finish their amateur or professional careers. For the past 13 years, Uplifting Athletes has held a leadership conference for chapter leaders. According to Long, the goal is to help student-athletes first understand the goals and mission of the organization and, secondly, coach them in life and leadership skills to prepare them for when they eventually hang their helmets up. “As a Division 1 football player, you don’t have the opportunity to work a full-time job or to do an internship,” Long said. “We provide that through uplifting athletes and try to help the athletes become the best version of themselves as they can be.” Every year for the past 12 years, the organization has honored a Rare Disease Champion — any leader in college football who has helped the rare disease community. Before COVID-19, part of the Uplifting Athletes’ mission was to connect rare disease families with the football players for whom they are rooting. Every summer before the pandemic, the entire Notre Dame college football team met with rare disease patients for a night of bowling. Last July, Garrett Hopkin, a boy with Niemann-Pick disease types A and B, got to meet Josh Allen, quarterback for the Buffalo Bills pro football team. Long himself was impacted by Uplifting Athletes in 2012 after players started a chapter at Syracuse University, in New York, focused on brain cancer research in his honor. At the end of his senior year as a punter, in December 2010, doctors discovered a large tumor in his brain that would require immediate surgery. He was later diagnosed with grade 3 anaplastic astrocytoma, a rare type of brain cancer. Even though Long would eventually recover, after a long and difficult treatment cycle, his hopes to play in the NFL were dashed. Yet he still had a successful college punting career, and in 2016, he became the director of rare disease engagement at Uplifting Athletes, and eventually the organization’s executive director. “I wanted to take what I’ve experienced and what I’ve lived through and use that as a way to kind of pay it forward,” Long said. “That’s when I got involved with Uplifting Athletes.” The post Uplifting Athletes Tackles Funding for Rare Disease Research, Awareness appeared first on Sarcoidosis News. Link naar het originele artikel
  5. Public health researchers have called food allergies "a growing public health epidemic in Canada" affecting around one in 13 Canadians and one in five Canadian households. Dining out can be risky and stressful for people with allergies, in part because many restaurant employees lack the training, skills and confidence to manage food allergies safely and effectively.Link naar het originele artikel
  6. A study led by UT Southwestern dermatologists suggests that a common inflammatory skin condition may stem from poorly regulated sex hormones. The finding, published this week in PNAS, could offer an unexpected new target to fight this condition.Link naar het originele artikel
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  8. Back when I was healthy, I’d work up to three jobs at a time and volunteer on top of that. My husband’s work schedule was based on seniority, and because he was relatively new to his job, he usually had crummy hours and even crummier days off. He was coming when I was going, and we’d go months without sharing a day off. Fortunately, we were able to schedule our vacations together. That was our quality time, and it became that much more important for our relationship. We developed a love for cruising, and always looked forward to the excursions and activities. As sarcoidosis and disability took over my life, the reason we needed those vacations changed. We no longer simply needed time together, we needed time to focus on us, free from doctors, blood draws, and diagnostic tests. Though the need became stronger, the types of vacations had to change. Between mobility and breathing challenges and overwhelming fatigue, I could no longer hike through the rainforest to see waterfalls, climb a rock wall on a cruise ship, or take the stairs leading to a zip line. Recommended Reading January 29, 2020 Columns by Kate Spencer I’m Altering My Approach to Traveling with Sarcoidosis My limitations have only been amplified during the pandemic. Being immunocompromised puts me at greater risk of becoming severely ill from COVID-19, so I have to be extra careful. However, we recently found a way to make travel happen, even now. It was our first vacation in over two years, and we needed it. For those with sarcoidosis or other disabilities, the following tips may enable you to travel, too. Consider what you can’t do, but focus on what you can. While I would suggest this for most situations, it’s even more important when planning a vacation. It’s easy to get caught up in all that we’ve lost, but this is meant to be fun. With research and planning, it can be just the escape we need. Where can you go? I use a cane to walk short distances and an electric scooter for longer ones, so we check hotels, Airbnbs, and major attractions for wheelchair accessibility. I always choose a balcony room so that I can still enjoy the scenery and fresh air when I’m unable to go out. How can you get there? I’m not ready to travel by plane or train, so we needed someplace within reasonable driving distance. What can you do? I still don’t feel comfortable going indoors, or really anywhere with too many people, so we looked for outdoor sites we could explore on our own. Plan your time with a flexible structure. It’s been said that failing to plan is planning to fail. That certainly rings true for a trip like this. Sarcoidosis doesn’t give us the luxury of winging it. On the flip side, a plan that’s too rigid doesn’t leave room for the unpredictability that comes with sarcoidosis. Build in downtime. If those of us with sarcoidosis don’t plan for fatigue, it’ll hit us even harder. I generally plan for a busy day and a light evening, or vice versa, and incorporate “off” days of relaxing by the pool or even staying in the room so that I can enjoy my time out that much more. I also plan recovery days for when we return home. Make backup plans. Fatigue, an unexpected flare, or even bad weather can get in the way. We must keep in mind what else we can do, and if we can reschedule what we’d originally planned. Check with your doctors. To be sure we’re traveling safely, it’s important to ask our doctors about any additional considerations. For me, that means packing extra sun protection because some of my medications cause photosensitivity, and altering my infusion schedule. Go with the right people. No matter where you go or how much you plan, the company you keep makes all the difference. Who really gets you? A trip can be a break from “sick life,” so it’s important to go with people who understand and respect our conditions and limitations. The last thing we need is anyone making us feel bad that we don’t feel better. Who makes you happy? For me, that’s easy — my husband is my happy place, so anywhere with him is a good time. Before COVID-19, we sometimes traveled with other couples, friends, or family, but for now, that’s just too many people for me. The key is to go with whoever makes you feel your best. Kerry and Michael Wong hit the road during a recent trip to Montreal. (Photo by Kerry Wong) Ultimately, we ended up taking a road trip to Montreal. We had breakfast on the balcony, took a walk (or a roll) through the botanical gardens and an outdoor market, rode La Grande Roue de Montréal (the tallest Ferris wheel in Canada), and ate a lot of delicious food outdoors. Best of all, we got to feel more like us again. *** Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to sarcoidosis. The post From Rocky Roads to Smooth Sailing: How I Travel With Sarcoidosis appeared first on Sarcoidosis News. Link naar het originele artikel
  9. An international study led by the University of Oulu's researchers reports five new genetic loci predisposing to atopic dermatitis. Based on three extensive biobanks, the study helps to understand the pathogenic mechanisms behind the disease and may open up opportunities for developing new forms of treatment.Link naar het originele artikel
  10. aTyr Pharma’s experimental therapy ATYR1923 safely and effectively improves lung function and reduces symptoms in adults with pulmonary sarcoidosis, while lowering the need for oral corticosteroids, top-line data from a Phase 1b/2a clinical trial show. Notably, while all three tested therapy doses were well-tolerated, greater clinically meaningful improvements were observed with the higher dose, 5 mg/kg, according to researchers. “We are delighted by the results of this study, which provide the first clinical proof-of-concept for ATYR1923, as well as validation for our tRNA synthetase biology platform and Neuropilin-2 as a target,” Sanjay S. Shukla, MD, aTyr’s president and CEO, said in a press release. “The consistency in dose response and clinically meaningful benefit observed, along with ATYR1923’s favorable safety and tolerability profile, give us great confidence that ATYR1923 could be a transformative, disease modifying therapy for pulmonary sarcoidosis patients,” Shukla said. Based on the trial’s promising findings, aTyr plans to meet with the U.S. Food and Drug Administration to discuss these data and the best path toward ATYR1923’s approval for pulmonary sarcoidosis, according to Shukla. Recommended Reading December 10, 2020 News by Steve Bryson PhD Antibiotic Azithromycin Curbs Cough in Pulmonary Sarcoidosis, Study Concludes Shukla said the company also expects to launch a larger trial next year to support a future submission of a regulatory application seeking the therapy’s approval. Robert Baughman, MD, professor of medicine and pulmonologist at the University of Cincinnati Medical Center, in Ohio, said he was “very impressed” by the aTyr study, calling it one of the best he had seen conducted in sarcoidosis — “a patient population that is highly underserved by current treatment options.” “Importantly,” Baughman said, “ATYR1923 demonstrated an improvement in several indicators of quality of life, a high priority for patients, by a much larger margin than I would expect in a trial of this size and duration.” Sarcoidosis is an inflammatory disease that can lead to the formation of small abnormal lumps or nodules — called granulomas — in virtually any organ in the body, but most often in the lungs, which then is classified as pulmonary sarcoidosis. Administered directly into the bloodstream (intravenously), ATYR1923 is an immunomodulatory molecule designed to bind neuropilin-2, a protein located at the surface of immune cells. Neuropilin-2 is involved in inflammation and granuloma formation in lung sarcoidosis. Preclinical studies have shown that ATYR1923 reduces the levels of pro-inflammatory and pro-scarring molecules, and significantly lessens inflammation-dependent scarring. As such, the therapy is expected to ease symptoms and improve lung function in people living with pulmonary sarcoidosis. Completed in July, the Phase 1b/2a trial (NCT03824392) evaluated ATYR1923’s safety, tolerability, and preliminary effectiveness in 37 adults living with a pulmonary sarcoidosis diagnosis for at least six months. The trial also assessed the therapy’s pharmacokinetics, or its movement into, through, and out of the body, and its immunogenicity, which concerns its ability to provoke an unwanted immune response. Key exploratory efficacy goals included changes in corticosteroid use, lung function, clinical symptoms, and levels of inflammatory biomarkers. Lung function was assessed through forced vital capacity (FVC), or how much air can be forcibly exhaled from the lungs after taking a deep breath. Participants were recruited at 15 sites across the U.S. for the 24-week (nearly six-month) study. Each was randomly assigned to receive an into-the-vein infusion of either one of three doses — 1, 3, or 5 mg/kg — of ATYR1923 or a placebo. Consistent with previous interim data, the final results showed that all three doses of the therapy were generally safe and well-tolerated, with no reports of treatment-related serious adverse events and no signs of unwanted immune responses. This meant that the trial met its main goal. In addition, ATYR1923 resulted in a dose-dependent response on key efficacy goals, compared with a placebo. Recommended Reading June 25, 2020 News by Marta Figueiredo PhD Severe Fatigue Very Common in Pulmonary Sarcoidosis Patients, Dutch Study Shows Patients given the therapy’s high dose (5 mg/kg) reduced their corticosteroid use by 58% from the study’s start — results 22% greater than those achieved by patients receiving a placebo. Notably, 33% of participants in this high-dose group became corticosteroid-free, while no patient in the other groups was able to achieve and sustain that state. Also, relative to the placebo, the high dose of ATYR1923 led to a 3.3% improvement in FVC, which is considered clinically meaningful. Clinically meaningful reductions over placebo also were observed for shortness of breath, cough, and fatigue, as well as for lung and general health. These assessments came from the use of the King’s Sarcoidosis Questionnaire. ATYR1923-treated patients also showed dose-dependent reductions in key inflammatory and sarcoidosis biomarkers, compared with those given a placebo, with the greatest drops being observed in the high-dose group. Notably, while PET-CT scan assessments over the trial were initially planned to provide a better visualization of active sarcoidosis, this data was incomplete, mainly due to operational issues associated with the COVID-19 pandemic. The trial, sponsored by aTyr Pharma, was conducted in partnership with the Foundation for Sarcoidosis Research. “The dose response and consistent results across almost every endpoint are remarkable findings, and as good as could be expected in this small study,” said Daniel Culver, chair of the department of pulmonary medicine and director of diffuse parenchymal lung disease at the Cleveland Clinic. “The ability to taper patients off steroids while controlling disease symptoms in the ATYR1923 treatment groups is particularly compelling and supports advancement of ATYR1923 into the next phase of development,” Culver added. aTyr hosted a conference call and webcast discussing the trial’s results that can be accessed here. The post ATYR1923 Found Safe, Effective for Pulmonary Sarcoidosis Patients appeared first on Sarcoidosis News. Link naar het originele artikel
  11. A new discovery from researchers at The University of Texas MD Anderson Cancer Center has clarified the long-established connection between inflammation and pancreatic cancer development. According to the study published today in Science, pancreatic cells display an adaptive response to repeated inflammatory episodes that initially protects against tissue damage but can promote tumor formation in the presence of mutant KRAS.Link naar het originele artikel
  12. New discoveries about a built-in rapid reaction system that triggers inflammatory responses when people are exposed to allergens, such as insects, mites and fungi, also may hold the keys to helping more people manage their allergies in years to come.Link naar het originele artikel
  13. A study of over 1.4 million Danes has revealed a link between higher levels of exposure to two common pollutants during childhood and an increased risk of self-harm in later life.Link naar het originele artikel
  14. Recently, the teams led by Professor Xuechen Li from Department of Chemistry, Faculty of Science, The University of Hong Kong (HKU) and Professor Sheng Chen from the Department of Infectious Diseases and Public Health of City University of Hong Kong (CityU), joined hands and made a breakthrough in vaccination development against lethal bacteria Acinetobacter baumannii. Their studies have been published in ACS Central Science.Link naar het originele artikel
  15. The 9/11 terrorist attack on the World Trade Center in New York resulted in the loss of 2,753 people in the Twin Towers and surrounding area. After the attack, more than 100,000 responders and recovery workers from every U.S. state—along with some 400,000 residents and other workers around ground zero—were exposed to a toxic cloud of dust that fell as a ghostly, thick layer of ash and then hung in the air for more than three months.Link naar het originele artikel
  16. Scientists in Japan have identified metabolic compounds within the blood that are associated with dementia.Link naar het originele artikel
  17. Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to enroll or remain in clinical trials,” KimberLee Heidmann, vice president of patient services at Scout Clinical, said in a press release. Scout Clinical is a patient logistic provider that conducted the rare disease clinical trial focus group. The results were published in a white paper titled “Crossing the Finish Line – Why Effective Participation Support Strategy is Critical to Trial Efficiency and Success in Rare Diseases.” The complete report from the focus group series is available for download here. According to Scout Clinical, which conducted the initiative along with ICON plc (formerly known as PRA Health Sciences), so far there has been no systematic research available on the support needs of rare disease patients participating in clinical trials, or on the impact of unmet participation support, as it relates to trial completion. This first-of-its-kind focus group research sought to amplify the rare disease community’s voice regarding clinical trial participation. The focus groups provided insights about the discrepancy between patients’ experiences and the participation support services offered to them during clinical trials. “Focus group participants said that motivation is not enough. Identifying where, specifically, trial support services must improve is the first step toward making rare disease trial participation and completion less onerous,” Heidmann said. From December 2020 to February 2021, the researchers conducted four virtual focus groups with a total of 16 individuals affected by a rare disease who had participated in at least one clinical trial. All participants were North American (U.S. or Canada). The insights from the focus groups were used to develop an online survey (conducted from Jan. 26 to Feb. 19), and was open to all rare disease patients and caregivers, regardless of whether they had taken part in a clinical trial. There were 126 respondents who are affected by a total of 69 rare diseases. The data gathered revealed that, although the focus group participants were highly motivated to take part in clinical trials, they face a variety of pressures due to factors that adversely impacted their ability to do so. These pressures could be categorized into three main types: financial, physical and logistical, and psychological and emotional. While nearly all the respondents made concerted efforts to overcome these obstacles and complete the trials, it was not always possible. “This pragmatic reality contrasts with a general perception within the drug development ecosystem that, due to the high unmet need within rare disease, motivation suffices to ensure a participant’s ability to clear some, or all, of the hurdles of trial participation,” the white paper states. Focus group participants identified several financial barriers to successful trial completion. In total, 50% of the survey respondents indicated they sometimes or frequently experienced financial difficulties. Trial policies may not cover certain participant expenses, such as airfare for site visits, wheelchair-accessible rental vehicles, and hotel accommodations. Participation in trials also includes “hidden” costs such as childcare and mileage expenses. Some participants reported barriers to reimbursement for expenses that were covered by the trial. Receipts were not always available, and waiting for reimbursement negatively affected their financial circumstances. Others reported lost income due to clinical trial participation. “The results of our research suggest that current participation support practices leave trial participants with incremental financial pressures, which become barriers to joining or completing a trial. This emphasizes the importance of considering the financial pressures that may be associated with participation as a key to rare disease trial risk assessment,” the report states. Since rare disease clinical trials usually take place at relatively few locations, participants also face significant physical and logistical pressures. Focus group participants reported experiencing physical strain, fatigue, pain, and anxiety while traveling, navigating unfamiliar healthcare environments, and receiving care from unfamiliar providers. Regarding psychological and emotional pressures, most of the focus group participants experienced this type of hurdle and a broad range of triggers were reported. Some rare disease patients missed their families while they participated in trial visits and became hyperaware of their condition. Some parents reported feeling worried about whether experimental drug trial participation was the right decision for their child, and being upset at seeing their child in pain or distress. Only one focus group participant received psychological support. “This is unsurprising, as psychological support is not typically offered to trial participants,” the report notes. Interestingly, about 30% of survey respondents said that receiving emotional support or counseling services would make it easier for them to participate in a trial. When asked what constituted “good” participation support, focus group members identified three qualities that support strategies should include: being personalized and responsive to patients’ needs; being comprehensive and transparent; be easy to access through a single point of contact. Overall, “more than 70% of survey respondents reported that if they were not able to receive the participation support services they need, their ability to take part in a trial would definitely or somewhat be impacted,” the researchers wrote. Taken together, “these insights point to several critical success factors for sponsors aiming to de-risk their rare disease clinical trials with an effective participation support strategy,” the report states. These include “cultivating a mindset shift that recognizes the active role that trial participants play in efficient trial conduct, engaging with patient communities to conduct participation burden assessments during early trial design, and implementing a participation support strategy in the clinical trial risk management process.” The post Group Focuses on Rare Disease Clinical Trial Participation appeared first on Sarcoidosis News. Link naar het originele artikel
  18. A Phase 2 clinical trial investigating the inhaled sarcoidosis therapy aviptadil — also known as RLF-100, and designed to block inflammation in the lungs — has been cleared to start in Germany. The clearance by the German medical regulatory authority Bundesinstitut für Arzneimittel und Medizinprodukte (BfArM) was given to AdVita Lifescience, the original developer of aviptadil, which was recently acquired by Relief Therapeutics. “Receiving regulatory clearance to begin a phase 2 clinical trial of inhaled aviptadil marks another clinical milestone for Relief and our subsidiary, AdVita,” Raghuram Selvaraju, chairman of the board of Relief, said in a press release. “Aviptadil is believed to be the only known experimental drug that could potentially suppress sarcoidosis-associated cough, one of the major symptoms reducing quality of life in this patient population,” Selvaraju said. Recommended Reading August 13, 2021 News by Marta Figueiredo PhD Relief’s Inhaled Therapy RLF-100 Earns FDA’s Orphan Drug Status Sarcoidosis is a highly variable inflammatory disease that can lead to the formation of small abnormal lumps of cells — nodules called granulomas — in virtually any organ in the body, but most commonly the lungs. Aviptadil is an artificial form of a hormone called vasoactive intestinal peptide, or VIP, that is mainly concentrated in the lungs and has potent anti-inflammatory, immunoregulatory, and anti-viral properties. In short, the hormone can block inflammation and viruses, and help to regulate the body’s immune responses. A previous proof-of-concept Phase 2 clinical trial, named Avisarco II (2017-004219-37) and also conducted in Germany, had evaluated the safety and effectiveness of the inhaled therapy in 20 adults with pulmonary sarcoidosis associated with cough. The results showed that aviptadil was generally safe and well-tolerated, significantly halted inflammatory processes in the lung, and led to a reduction of sarcoidosis-relevant biomarkers. Aviptadil also lessened patients’ dry cough and shortness of breath during exercise. Those findings led the U.S. Food and Drug Administration to grant aviptadil orphan drug designation, a status meant to accelerate the clinical development and review of candidate therapies showing potential for rare diseases. The designation provides certain benefits, such as exemption from FDA application fees, and seven years of market exclusivity in the U.S. upon approval. The upcoming randomized, double-blind, multicenter clinical trial is designed to confirm the therapy’s benefits in a larger group of patients. “We look forward to initiating this trial and to further exploring the clinical utility of aviptadil across multiple pulmonary indications,” Selvaraju said. Relief’s partner, NeuroRx, also is testing aviptadil, both as an inhaled and infused therapy, for the treatment of severe COVID-19 respiratory complications. The post Phase 2 Trial of Inhaled Therapy Aviptadil OK’d in Germany appeared first on Sarcoidosis News. Link naar het originele artikel
  19. It is not necessary to tailor the medication doses to patients, at thestart of treatment, for patients to have a good effect. This is shown by a new Norwegian study led by Professor Espen A. Haavardsholm.Link naar het originele artikel
  20. Joachim

    Why the brain swells after liver damage

    Liver encephalopathy is one of the diseases that claims most lives worldwide. A Norwegian study has revealed that the disease disturbs vital processes in the brain.Link naar het originele artikel
  21. Joachim

    ‘It’s Hard to Be What You Can’t See’

    For those with sarcoidosis, one of the most challenging aspects of the disease is finding folks who are just like us. I’m not referring to race, gender, or any other characteristic that differentiates us as individuals. I’m talking about the things that make us the same. I’m talking about finding people who also struggle with the disease. Of course, part of that is simply the rare nature of sarcoidosis. It’s hard to “see” others when there aren’t many of us out there. According to the Foundation for Sarcoidosis Research (FSR), between 150,000 and 200,000 people live with the disease in the U.S. Given the U.S. Census Bureau‘s July 2019 population estimate of about 328 million, roughly one in 2,000 Americans has sarcoidosis. Thankfully, organizations like FSR, as well as hospitals and clinics devoted to the disease, give us an opportunity to meet others like us. Marian Wright Edelman, founder and president emerita of the Children’s Defense Fund, said, “It’s hard to be what you can’t see.” Many of my colleagues and mentors have shared this wisdom with me over the years. Recommended Reading March 19, 2021 Columns by Charlton Harris The Struggle to Feel Seen and Heard With Sarcoidosis Even if we do happen to meet other sarcoidosis patients, the darn disease affects each of us differently. I’m admittedly not a huge fan of calling sarcoidosis patients like myself “snowflakes,” but I understand the point of the term. Just as each snowflake is unique, each sarcoidosis patient is affected uniquely by the disease. Perhaps two people both have lung involvement, but while one might require an oxygen tank to survive, the other is able to continue without it. We’re similar, yet so very different. Beyond our uniqueness as sarcoidosis patients, sometimes my own body feels different every year (or even every day). My sarcoidosis presented far differently when I was diagnosed in 2014 than it does today. No doubt, some of that is due to better medicine, improved healthcare, and more knowledge of how the disease affects my body. But sometimes, even after all these years, I still struggle to understand this condition. Some days, I don’t know how I truly feel until I take a breath and walk a few steps away from my bed. It was quite some time before I was even able to talk with others about sarcoidosis. For a long time, I didn’t even like using the word “disease.” I still don’t really like it, but I’ve realized that using the word freely helps remove some of its stigma and power over me. In recent years, I’ve also learned the power of honestly telling others how I’m doing. My friends’ encouragement pushed me to be more open about my condition on social media. These days, if you view my Instagram, Facebook, and LinkedIn accounts, you are bound to see a mention of sarcoidosis. Heck, why shouldn’t I post about it? After all, while sarcoidosis doesn’t define me, it’s certainly a part of who I am, whether I like it or not (usually not). And posting about my sarcoidosis race lets me pay it forward to those who have helped and inspired me. After I was diagnosed, I first saw others living with sarcoidosis on Instagram. Some were struggling like me, some were having a much tougher time than me, and some were doing things I didn’t even know were possible with this disease. But they were all living their best lives under the circumstances. By searching hashtags such as #sarcoidosis or #sarcoidose, you will see some amazing folks. Personally, I post to celebrate another day of beating this disease. I often think, especially when I’m running, that every step is an act of defiance against sarcoidosis. It may win one day, but not today. And after most social posts, I get to hear from someone else who has sarcoidosis. Maybe they were recently diagnosed and feel scared, like most of us are. Maybe they are a seasoned patient offering me words of encouragement. Some simply need to see another person doing the best they can with this dreaded disease. Whatever the reason, each post introduces me to someone in this community of racers and fighters, and I get so much pleasure from meeting them. It proves I’m not alone in this — none of us are. We may have a rare disease, but we also have a whole community to look to for support. After all, you can’t be what you can’t see. *** Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to sarcoidosis. The post ‘It’s Hard to Be What You Can’t See’ appeared first on Sarcoidosis News. Link naar het originele artikel
  22. Naegleria fowleri—commonly known as "the brain-eating amoeba"—can be found in warm fresh water. It's a single-celled, free swimming animal that reaches the brain through the nasal passageway by traveling up the olfactory nerve.Link naar het originele artikel
  23. (HealthDay)—The use of patient-reported outcome measures (PROMs) to complement clinician-reported outcomes (CROs) may yield important information for assessing disease severity and guiding treatment of psoriasis, according to a research letter published online Sept. 8 in JAMA Dermatology.Link naar het originele artikel
  24. Temporary transfer tattoos, particularly popular among children, can damage the skin's protective barrier. This is the finding of a study published in the Journal of Clinical Medicine by UGR researchers José Pablo Serrano, Trinidad Montero, Agustín Buendía, and Salvador Arias.Link naar het originele artikel
  25. A study led by researchers at the University of Chicago and Indiana University has determined that a protein called elF5A is necessary for driving inflammation in macrophage cells in obesity. Blocking DHPS, the enzyme that modifies and activates elF5A, led to reduced inflammation and improved glucose control in mice. The study was published on September 7 in Cell Metabolism.Link naar het originele artikel
  26. UCL researchers have shown that damage to the lining of the gut plays an important role in the development of rheumatoid arthritis, paving the way for a new approach to treating the disease.Link naar het originele artikel
  27. Joachim

    Study explores why asthma worsens at night

    For hundreds of years, people have observed that asthma severity often worsens in the nighttime. One longstanding question has been to what degree the body's internal circadian clock—as opposed to behaviors, such as sleep and physical activities—contributes to worsening of asthma severity. Using two circadian protocols, investigators from Brigham and Women's Hospital and Oregon Health & Science University have pinned down the influence of the circadian system, uncovering a key role for the biological clock in asthma. Understanding the mechanisms that influence asthma severity could have important implications for both studying and treating asthma. Results are published in The Proceedings of the National Academy of Sciences.Link naar het originele artikel
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