martes, 7 de abril de 2026
New obesity definition could delay treatment and widen health gaps
https://www.news-medical.net/news/20260407/New-obesity-definition-could-delay-treatment-and-widen-health-gaps.aspx
A major rethink of obesity diagnosis promises better risk prediction, but experts warn it could unintentionally restrict access to care and deepen health disparities.
Obesity is highly prevalent today and is associated with multiple cardiometabolic risks, besides its adverse impact on neurological, musculoskeletal, and reproductive health. This prompted the Lancet Diabetes & Endocrinology Commission to explore clinically relevant approaches to defining and classifying obesity. The Endocrine Society (ES) published an evaluation of this framework in The Journal of Clinical Endocrinology & Metabolism.
Longer working hours associated with higher risk of nonrestorative sleep and poor mental health
https://www.news-medical.net/news/20260407/Longer-working-hours-associated-with-higher-risk-of-nonrestorative-sleep-and-poor-mental-health.aspx
Mental load, invisible work, "the extra shift"; no matter the newly coined term, unpaid work in the domestic sphere, predominantly done by women, is a hidden burden eating away at the sleep and mental health of those tasked with it. This work is essential to keep everyone's daily lives on track, from meal prep and clean clothes to school drop-offs and doctor's appointments, yet its importance is often ignored, undermined, and even belittled by the very society dependent on it.
Integrated motor exercise improves core ADHD symptoms and executive function
https://www.news-medical.net/news/20260407/Integrated-motor-exercise-improves-core-ADHD-symptoms-and-executive-function.aspx
Attention deficit hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders in childhood and is marked not only by inattention, hyperactivity, and impulsivity, but also by weaknesses in executive functions such as inhibition, working memory, and cognitive flexibility. Medication remains the primary treatment, yet some children respond poorly, experience side effects, or struggle with long-term adherence. Exercise has emerged as a promising non-pharmacological option, but most programs have focused on aerobic activity and paid less attention to the motor and cognitive challenges that many children with ADHD face together. Based on these challenges, deeper research is needed on exercise approaches that simultaneously train cognition and movement.
HIV funding cuts could increase infections by 10% in the U.S.
https://www.news-medical.net/news/20260407/HIV-funding-cuts-could-increase-infections-by-1025-in-the-US.aspx
Timely HIV diagnosis and treatment are critical to preventing transmission. To help make this happen, the U.S. Centers for Disease Control and Prevention (CDC) provides funding for HIV testing to local health departments and community organizations. In a new NIH-funded Johns Hopkins Medicine study, researchers used a computer model to quantify the effect of funding cuts for HIV testing. They estimate that HIV infections could increase an average of 10% in 18 U.S. states if this funding is interrupted or ended.
Industry Focus eBook - Neurology & Neuroscience (1st edition)
https://www.news-medical.net/industry-focus/Industry-Focus-eBook-Neurology-Neuroscience-(1st-edition)?utm_source=news_medical_newsletter&utm_medium=email&utm_campaign=neurology_and_neuroscience_newsletter_7_april_2026
This Industry Focus eBook on Neurology and Neuroscience brings together expert perspectives on Alzheimer’s disease and the broader field of brain health.
As progress in diagnostics, therapeutics, biomarker development, and digital health continues, our understanding of Alzheimer’s disease and related neurological conditions is becoming more refined. Work taking place across research laboratories and clinical settings is informing earlier detection strategies, more precise measurement tools, and evolving approaches to patient care.
Food Safety Culture Webinar Series
Recommendations for the Use of Antiretroviral Drugs During Pregnancy and Interventions to Reduce Perinatal HIV Transmission in the United States
Recommendations for the Use of Antiretroviral Drugs During Pregnancy and Interventions to Reduce Perinatal HIV Transmission in the United States
The information in the brief version is excerpted directly from the full-text guidelines. The brief version is a compilation of the tables and boxed recommendations. These guidelines were updated and approved by the Panel in December 2024, and were subsequently edited to comply with Executive Orders.
https://clinicalinfo.hiv.gov/en/guidelines/perinatal/whats-new
AACR Annual Meeting 2026 April 17-22, 2026 +...
https://www.aacr.org/meeting/aacr-annual-meeting-2026/?cid=eb_govdel
NCI at AACR Annual Meeting 2026
NCI is participating in the American Association for Cancer Research (AACR), Annual Meeting, April 17 – 22, 2026, at the San Diego Convention Center in San Diego, CA.
https://www.cancer.gov/news-events/events/conferences/aacr-2026?cid=eb_govdel
AACR Annual Meeting: April 17-22, 2026
https://www.abstractsonline.com/pp8/?cid=eb_govdel#!/21436
Activities at NCI Exhibit Booth
Learn about NCI’s resources, programs, and funding opportunities available by joining us at the AACR Annual Meeting 2023 in Orlando.
NCI staff will be at booth #736 during exhibit hours to answer your questions about programs, resources, training, and funding opportunities.
https://www.cancer.gov/news-events/events/conferences/aacr-2026/nci-booth?cid=eb_govdel
Menopause: When to Treat and When to Wait Antoine Ramet Medscape Europe March 25, 2026 +++
https://www.medscape.com/viewarticle/menopause-when-treat-and-when-wait-2026a1000939?ecd=mkm_ret_260406_mscpmrk_obgyn_latest-news_mai_etid8245691&uac=148436CN&impID=8245691
Premature Menopause Is Tied to Greater Lifetime Risk for Coronary Heart Disease
Martta Kelly
https://www.medscape.com/viewarticle/premature-menopause-tied-greater-lifetime-risk-coronary-2026a10008pw?ecd=mkm_ret_260406_mscpmrk_obgyn_latest-news_mai_etid8245691&uac=148436CN&impID=8245691
March 23, 2026
Early Hormone Replacement Therapy Linked to Lower Osteoporosis Risk in Postmenopausal Women
Lara Salahi
https://www.medscape.com/viewarticle/early-hormone-replacement-therapy-linked-lower-osteoporosis-2026a10006oo?ecd=mkm_ret_260406_mscpmrk_obgyn_latest-news_mai_etid8245691&uac=148436CN&impID=8245691
March 04, 2026
Does ART Match ALND After Neoadjuvant Breast Cancer Therapy? Sara Freeman April 07, 2026
Risk Factors Driving Severe Maternal Morbidity in the US Whitney McKnight March 09, 2026 +++++
Risk Factors Driving Severe Maternal Morbidity in the US
Whitney McKnight
https://www.medscape.com/viewarticle/risk-factors-driving-severe-maternal-morbidity-us-2026a100071u?ecd=mkm_ret_260406_mscpmrk_obgyn_latest-news_mai_etid8245691&uac=148436CN&impID=8245691
March 09, 2026
When should I intensify monitoring for hypertensive disorders in pregnancy (Medscape AI)
https://www.medscape.com/ai-search?query=When%20should%20I%20intensify%20monitoring%20for%20hypertensive%20disorders%20in%20pregnancy&ecd=mkm_ret_260406_mscpmrk_obgyn_latest-news_mai_etid8245691&uac=148436CN&impID=8245691
Endometriosis Therapy Linked to Bone Loss
Endometriosis Hormonal Treatments Compromise Bone Health
Edited by Manasi Talwadekar
https://www.medscape.com/viewarticle/endometriosis-hormonal-treatments-compromise-bone-health-2026a10009mb?ecd=mkm_ret_260406_mscpmrk_obgyn_latest-news_mai_etid8245691&uac=148436CN&impID=8245691
March 30, 2026
Does Cotesting Improve Cervical Screening?
Cotesting Adds Little Benefit to Cervical Cancer Screening
Kerri Wachter
https://www.medscape.com/viewarticle/cotesting-adds-little-benefit-cervical-cancer-screening-2026a100099s?ecd=mkm_ret_260406_mscpmrk_obgyn_latest-news_mai_etid8245691&uac=148436CN&impID=8245691
March 26, 2026
This Diet Tied to Lower Stroke Risk in Women
Mediterranean Diet May Lower All-Type Stroke Risk in Women
Lizette Borreli
https://www.medscape.com/viewarticle/mediterranean-diet-may-lower-all-type-stroke-risk-women-2026a10004s1?ecd=mkm_ret_260406_mscpmrk_obgyn_latest-news_mai_etid8245691&uac=148436CN&impID=8245691
February 16, 2026
World Health Day: Articles on Medicine, AI, and Community Care +++++ ++++
Technology, Diagnostics & Therapeutics
Gene Therapy to Be Studied for Treating Type 1 Diabetes
Gene Therapy to Be Studied for Treating Type 1 Diabetes
Miriam E. Tucker
https://www.medscape.com/viewarticle/gene-therapy-be-studied-treating-type-1-diabetes-2026a10009xh?ecd=mkm_ret_260407_mscpmrk-OUS_InFocus_etid8238278&uac=148436CN&impID=8238278
April 01, 2026
Emerging Norovirus Vaccines Face Scientific & Policy Hurdles
Emerging Norovirus Vaccines Face Scientific and Policy Hurdles
Jennifer Lubell
https://www.medscape.com/viewarticle/emerging-norovirus-vaccines-face-scientific-and-policy-2026a10009qg?ecd=mkm_ret_260407_mscpmrk-OUS_InFocus_etid8238278&uac=148436CN&impID=8238278
March 31, 2026
New Tool Predicts Cardiometabolic Risk in Psychosis
New Tool Predicts Cardiometabolic Risk in Young Adults With Psychosis
Megan Brooks
https://www.medscape.com/viewarticle/new-tool-predicts-cardiometabolic-risk-young-adults-2026a100092p?ecd=mkm_ret_260407_mscpmrk-OUS_InFocus_etid8238278&uac=148436CN&impID=8238278
March 25, 2026
AI Could Detect Osteoporosis and Osteopenia Risk
AI Tool Could Help Identify Patients at Risk for Osteoporosis and Osteopenia
Meaghan Lee Callaghan
https://www.medscape.com/viewarticle/ai-tool-could-help-identify-patients-risk-osteoporosis-and-2026a10006ti?ecd=mkm_ret_260407_mscpmrk-OUS_InFocus_etid8238278&uac=148436CN&impID=8238278
March 05, 2026
AI Tools Helpful With Prior Auth Letters, Handouts, and More
With Prompt Engineering, AI Tools Can Help With Prior Auth Letters, Patient Handouts, and More
Christine Kilgore
https://www.medscape.com/viewarticle/prompt-engineering-ai-tools-can-help-prior-auth-letters-2026a10006nh?ecd=mkm_ret_260407_mscpmrk-OUS_InFocus_etid8238278&uac=148436CN&impID=8238278
March 04, 2026
Care Delivery, Communication & Prevention
How to Build Trust When Patients Believe Misinformation
How to Build Trust When Patients Believe Misinformation
Debbie Koenig
https://www.medscape.com/viewarticle/how-build-trust-when-patients-believe-misinformation-2026a100082j?ecd=mkm_ret_260407_mscpmrk-OUS_InFocus_etid8238278&uac=148436CN&impID=8238278
March 17, 2026
Community Pharmacists to Transform Care in Europe
Community Pharmacists Poised to Transform Care Across Europe
Laura Clavijo Villagrasa
https://www.medscape.com/viewarticle/community-pharmacists-poised-transform-care-across-europe-2026a10008e6?ecd=mkm_ret_260407_mscpmrk-OUS_InFocus_etid8238278&uac=148436CN&impID=8238278
March 19, 2026
Mentally Active vs Passive Sitting May Lower Dementia Risk
Mentally Active vs Passive Sitting May Lower Dementia Risk
Edited by Vineeta Teotia
https://www.medscape.com/viewarticle/mentally-active-vs-passive-sitting-may-lower-dementia-risk-2026a1000a2w?ecd=mkm_ret_260407_mscpmrk-OUS_InFocus_etid8238278&uac=148436CN&impID=8238278
April 02, 2026
New Guideline on Brain-Heart Comorbidities in Older Patients
New Guideline Addresses Brain-Heart Comorbidities in Older Patients
Liz Scherer
https://www.medscape.com/viewarticle/new-guideline-addresses-brain-heart-comorbidities-older-2026a1000a2e?ecd=mkm_ret_260407_mscpmrk-OUS_InFocus_etid8238278&uac=148436CN&impID=8238278
Medscape Canada
April 02, 2026
lunes, 6 de abril de 2026
Requests for “unvaccinated” blood lead to delays and patient harm
https://www.news-medical.net/news/20260406/Requests-for-e2809cunvaccinatede2809d-blood-lead-to-delays-and-patient-harm.aspx
A growing demand for “unvaccinated” blood is challenging modern transfusion systems; now, real-world data reveal how these requests can delay treatment, strain resources, and put vulnerable patients at risk.
No one rides alone 6 April 2026
https://rarerevolutionmagazine.com/no-one-rides-alone/
In 2019, Clive Phillips received a diagnosis of multifocal motor neuropathy (MMN), a rare, chronic autoimmune disorder causing progressive asymmetrical muscle weakness. It affects 1-2 in every 100,000 cases in North America and Europe1 and is a condition for which there is no cure. Treatment of intravenous immunoglobin (IVIg) can lead to improved motor function, with patients requiring regular infusions to maintain improvement.
The silent crisis in our community – why amyloidosis awareness matters now 6 April 2026
https://rarerevolutionmagazine.com/the-silent-crisis-in-our-community-why-amyloidosis-awareness-matters-now/
As the dust settles on Amyloidosis Awareness Month, Jonathan L Dotson, executive director of Friendship That Gives, wants to see the momentum continue throughout the year, to increase awareness and create much-needed support systems for all those affected by this rare condition
March is recognised as Amyloidosis Awareness Month, yet for many in the Black community, this disease remains largely unknown—until it is too late.
Under the skin: life with epidermolysis bullosa 6 April 2026
https://rarerevolutionmagazine.com/under-the-skin-life-with-epidermolysis-bullosa/
With personal insights from across the world, highlighting the everyday experiences of those living with epidermolysis bullosa, discover how global DEBRA groups are working hard to build connections, increase awareness and address stigmas to provide a better future for all in the EB community
“It’s the worst disease you never heard of,” says Dané from South Africa, a reality that defines the experience of living with epidermolysis bullosa (EB).
Antibiotic use linked to psychological distress in pregnancy A large Japanese birth cohort study found that women who took antibiotics before or during early pregnancy were more likely to experience psychological distress.
‘Medical nutrition’ helps keep my son, and many others, healthy. But insurance won’t cover it Medical foods are regulated differently than drugs, allowing insurers to classify them as optional
https://www.statnews.com/2026/04/06/medical-nutrition-mitochondrial-disease-insurance-coverage/
By Heather GatcombeApril 6, 2026
Gatcombe is on the Board of Trustees of the United Mitochondrial Disease Foundation and is an assistant professor at Emory University School of Medicine.
When my child is in psychosis, the pediatric health care system can’t help us We are passed from specialist to specialist, with no one helping us make things better
https://www.statnews.com/2026/04/06/children-psychosis-pediatric-mental-health-emergency-system/
By Liz KochApril 6, 2026
Koch is a parent and writer based in Oregon.
A 21-Year-Old Student With Stomach Pain, Distress, and Declining Academic Performance Heidi Moawad, MD March 13, 2026
https://reference.medscape.com/viewarticle/21-year-old-student-stomach-pain-distress-and-declining-2026a10006kn?ecd=WNL_casechlg_260405_MSCPREF_etid8239180&uac=148436CN&impID=8239180
A 21-Year-Old Student With Stomach Pain, Distress, and Declining Academic Performance
A 21-year-old woman, a premed student with a formerly strong academic record, presents with a 3-month history of stomach aches and intermittent loss of appetite. She says she frequently experiences a sense of emptiness, heaviness, or discomfort of her entire abdominal area, with no localization.
domingo, 5 de abril de 2026
Identity cohesion linked to better mental health in marginalized groups
https://www.news-medical.net/news/20260403/Identity-cohesion-linked-to-better-mental-health-in-marginalized-groups.aspx
People of color who are also part of sexual and gender minority groups face unique challenges shaped by overlapping forms of discrimination. While much research has focused on the mental health risks they experience, far less has explored how people of these multiple identities build strength and resilience.
Long-term safety and immunogenicity of the two-dose heterologous Ad26.ZEBOV, MVA-BN-Filo Ebola vaccine regimen: a cohort study of previously vaccinated adults and children in Sierra Leone (the EBOVAC-Salone extension study)
https://www.thelancet.com/journals/lanafr/home?dgcid=hubspot_update_feature_lanafrlaunch_lanplh&utm_campaign=update-lanplh&utm_medium=email&_hsenc=p2ANqtz--i510ihPM57HS3F15a4nBHxE2X98FywawlEnTNAA4h_yFHyp7s2949ya_FfHuUckp3Mg7NUnCIcKlvcOiO9u8zilCUxA&_hsmi=411606699&utm_content=411556560&utm_source=hs_email
Editorial
Amplifying African voices to lead science for better health
The Lancet Regional Health – Africa
https://www.thelancet.com/issue/S3050-5011(26)X2001-6
Reforming public health law to adapt to the changing climate: a case study of mosquito-borne disease management Jennifer Boocock, PhDa jennifer.brown@utas.edu.au ∙ Prof Jan McDonald, PhDa,b ∙ Phillipa C McCormack, PhD
Reforming public health law to adapt to the changing climate: a case study of mosquito-borne disease management
Jennifer Boocock, PhDa jennifer.brown@utas.edu.au ∙ Prof Jan McDonald, PhDa,b ∙ Phillipa C McCormack, PhD
https://www.thelancet.com/journals/lanplh/article/PIIS2542-5196(25)00306-7/fulltext?dgcid=hubspot_update_feature_updatealerts_lanplh&utm_campaign=update-lanplh&utm_medium=email&_hsenc=p2ANqtz-8av2R8mjfkol4vUOfrqI7Z3wpNbPcCxIcc5uLrzD1WPJOz1Av5Xe35z4WFRXsy-dCL3-3V3cI6DS4A73zl_aFROpNQ9Q&_hsmi=411606699&utm_content=411556560&utm_source=hs_email
Nutritional and health impacts of alternative animal source foods: a scoping review Ty Beal, PhDa tbeal@gainhealth.org ∙ Rebecca McLaren, MDa ∙ Trisha Saxenab ∙ Kristina Sokourenko, MAb ∙ Stella Nordhagen, PhDc ∙ Elisabetta Lambertini, PhDa ∙ et al.
Nutritional and health impacts of alternative animal source foods: a scoping review
Ty Beal, PhDa tbeal@gainhealth.org ∙ Rebecca McLaren, MDa ∙ Trisha Saxenab ∙ Kristina Sokourenko, MAb ∙ Stella Nordhagen, PhDc ∙ Elisabetta Lambertini, PhDa ∙ et al.
https://www.thelancet.com/journals/lanplh/article/PIIS2542-5196(25)00302-X/fulltext?dgcid=hubspot_update_feature_updatealerts_lanplh&utm_campaign=update-lanplh&utm_medium=email&_hsenc=p2ANqtz--9wwTVxapPS59gkRhBXXJarpnRjGeJtNkfAdZyYhncLy2rOSz7Ta-hdaWy8YIKRyA0A9f_5M6K9_ja5IDIafuC_kzGZA&_hsmi=411606699&utm_content=411556560&utm_source=hs_email
Nutritional adequacy of the EAT-Lancet diet: a Swedish population-based cohort study Anna Stubbendorff, BSca anna.stubbendorff@med.lu.se ∙ Ulrika Ericson, PhDb ∙ Elinor Hallström, PhDc ∙ Jessica Samuelsson, PhDd ∙ Emily Sonestedt, PhDa,e,∗ ∙ Daniel B Ibsen, PhD
Nutritional adequacy of the EAT-Lancet diet: a Swedish population-based cohort study
Anna Stubbendorff, BSca anna.stubbendorff@med.lu.se ∙ Ulrika Ericson, PhDb ∙ Elinor Hallström, PhDc ∙ Jessica Samuelsson, PhDd ∙ Emily Sonestedt, PhDa,e,∗ ∙ Daniel B Ibsen, PhD
https://www.thelancet.com/journals/lanplh/article/PIIS2542-5196(25)00295-5/fulltext?dgcid=hubspot_update_feature_updatealerts_lanplh&utm_campaign=update-lanplh&utm_medium=email&_hsenc=p2ANqtz-8HBM0OBIequgJ92I20UbPb_HDz8CVXzpJIiHOc_AeN4wSctGGUpxMmbFQxdPOnKL60wSq_wL0_A0MWP2RBfv_uG-5Jtw&_hsmi=411606699&utm_content=411556560&utm_source=hs_email
Register for eTOC alerts Editorial Reimagining radiology reporting The Lancet Digital Health +++ +...
Large language models for simplifying radiology reports: a systematic review and meta-analysis of patient, public, and clinician evaluations
Samer Alabed, PhDa,b s.alabed@nhs.net ∙ Abigail Andersona ∙ Ahmed Maiter, FRCRa,b ∙ Anthony Hughes, MScc ∙ Niamh McAnenlya ∙ Mahan Salehi, MSca,b ∙ et al.
https://www.thelancet.com/journals/landig/article/PIIS2589-7500(25)00142-6/fulltext?dgcid=hubspot_update_feature_updatealerts_landig&utm_campaign=update-landig&utm_medium=email&_hsenc=p2ANqtz-8ZzPQV5_onyNzWbAajWW4vV13Q5Wi_hQLwcqYer5bkKnWXNnJRtIKMZyNFEEZ1um6JLu9LTf8yyKwssaGQu-DkAXk3tw&_hsmi=411594870&utm_content=411556250&utm_source=hs_email
Smartwatch-derived versus self-reported outcomes of physiological recovery after COVID-19, influenza, and group A streptococcus: a 2-year prospective cohort study
Yosi Levi, PhDa ∙ Varun Gande, BSb ∙ Erez Shmueli, PhDa ∙ Tal Patalon, MDc ∙ Sivan Gazit, MDc ∙ Prof Margaret L Brandeau, PhDb,∗ ∙ Dan Yamin, PhD
https://www.thelancet.com/journals/landig/article/PIIS2589-7500(25)00138-4/fulltext?dgcid=hubspot_update_feature_updatealerts_landig&utm_campaign=update-landig&utm_medium=email&_hsenc=p2ANqtz---SwX6xhMBI_VAydei-e1ARg3QdcDQy9-5NBMk645xUN5XrL0NXnyZnQn7Hj3PYY1tggrOZ5OApfF0WZS_2mneWLUcug&_hsmi=411594870&utm_content=411556250&utm_source=hs_email
End-to-end integrative segmentation and radiomics prognostic models for risk stratification of high-grade serous ovarian cancer: a retrospective multicohort study
Kristofer Linton-Reid, PhDa,b ∙ Haonan Lu, PhDa,b,c ∙ Georg Wengert, MDa,b,d,f ∙ Prof Christina Fotopoulou, MDa ∙ Philippa Lee, MDd ∙ Federica Petta, MDe ∙ et al.
https://www.thelancet.com/journals/landig/article/PIIS2589-7500(25)00137-2/fulltext?dgcid=hubspot_update_feature_updatealerts_landig&utm_campaign=update-landig&utm_medium=email&_hsenc=p2ANqtz-8i0oPEN4Tsxp729O2I1BrImmRmk3s3iX2E6UjMewKyjblu_3LZ6KoySfqRpVW9S5oZKUTcH8NcJaGmFVJLiFFqZFQQoQ&_hsmi=411594870&utm_content=411556250&utm_source=hs_email
Editorial
Reimagining radiology reporting
The Lancet Digital Health
https://www.thelancet.com/journals/landig/issue/vol8no2/PIIS2589-7500(26)X2002-7
Editorial p275 Sleep your way to better metabolic health The Lancet Diabetes & Endocrinology ++... ++
Combined associations of GLP-1 receptor agonists and a healthy lifestyle with cardiovascular outcomes among individuals with type 2 diabetes: a prospective cohort study
Xuan-Mai T Nguyen, MDa,b ∙ Yanping Li, PhDa,c ∙ Prof Sébastien Czernichow, MDe,f ∙ Nathalie Rassy, PhDe ∙ Serena C Houghton, PhDa ∙ Prof Bing Lu, DrPHa,g ∙ et al
https://www.thelancet.com/journals/landia/article/PIIS2213-8587(25)00395-X/abstract?utm_campaign=update-landia&utm_medium=email&dgcid=hubspot_update_feature_updatealerts_landia&_hsenc=p2ANqtz-_6DRvIrUJcQk8WbAh1wzHK00PTnCzAxByyR5KVayLkkd1z0t6YLNbDWYpov6T1JIwxmMtdA4uL94lggLbVxSpL_KNwQA&_hsmi=411582518&utm_content=411553478&utm_source=hs_email
Editorial
p275
Sleep your way to better metabolic health
The Lancet Diabetes & Endocrinology
https://www.thelancet.com/journals/landia/issue/vol14no4/PIIS2213-8587(26)X2002-2
Risk of recurrence after successful surgery for Cushing's disease and association with USP8 genotype and tumour size: an international, retrospective, longitudinal cohort study
Qilin Zhang, PhDa,c,d,† ∙ Yixin Cai, PhDa,† ∙ Yuyu Liu, MDa,† ∙ Boyuan Yao, PhDa,† ∙ Prajina Sharmab ∙ Elisabeth Ruoff
https://www.thelancet.com/journals/landia/article/PIIS2213-8587(25)00396-1/fulltext?dgcid=hubspot_update_feature_updatealerts_landia&utm_campaign=update-landia&utm_medium=email&_hsenc=p2ANqtz-8bfcAjrtss1wUzxaT9RNO6Boe2AIiG0xUfVufQgbVsMsnlSHvQEX7tkcRM0RpGMEZV0nFPRzVKEHkrxLpoHFfSkCu9ZQ&_hsmi=411582518&utm_content=411553478&utm_source=hs_email
Tubeless automated insulin delivery versus multiple daily injections in children and adults with type 1 diabetes with elevated HbA1c (RADIANT): a multicentre, international, parallel-group, open-label, randomised, controlled trial
Emma G Wilmot, PhDa,b ∙ Prof Jacques Beltrand, PhDc,d ∙ Prof Bruno Guerci, PhDe ∙ Aurelie Berot, MDf ∙ Prof Helene Hanaire, PhDg ∙ Elise Bismuth, MDh ∙ et al.
https://www.thelancet.com/journals/landia/article/PIIS2213-8587(25)00364-X/abstract?utm_campaign=update-landia&utm_medium=email&dgcid=hubspot_update_feature_updatealerts_landia&_hsenc=p2ANqtz--RvPCUSW3lMVuSHimSr570gJEXo2KabOKs6PRhTNEHHlRNZkmjD1fXf0hGz3xCXuRxDfSWftfnovUSL3QdMQCj50DC7Q&_hsmi=411582518&utm_content=411553478&utm_source=hs_email
Editorial p325 Closing Europe's stroke prevention and care gaps by 2030 The Lancet Neurology ++... ++
Integration of plasma eMTBR-tau243 and p-tau217 in the diagnosis and stratification of Alzheimer's disease: a prospective cohort study
Niklas Mattsson-Carlgren, MDa,b,c niklas.mattsson-carlgren@med.lu.se ∙ Sebastian Palmqvist, MDa,b ∙ Kanta Horie, PhDd,e,j ∙ Nicolas Barthélemy, PhDd,e ∙ Gemma Salvadó, PhDa,k ∙ Alexa Pichet Binette, PhDa,l,m ∙ et al.
https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(26)00029-3/fulltext?dgcid=hubspot_update_feature_updatealerts_laneur&utm_campaign=update-laneur&utm_medium=email&_hsenc=p2ANqtz-9TyXK0C5mlbB_C6UAhmlBxiTyy32pxcQOn35_EMt4DaC6ktjVjecch9bgFS7X2Q1oQHaA8-S11DchQP3SNvTIrWitP6A&_hsmi=411577163&utm_content=411553863&utm_source=hs_email
Editorial
p325
Closing Europe's stroke prevention and care gaps by 2030
The Lancet Neurology
https://www.thelancet.com/journals/laneur/issue/vol25no4/PIIS1474-4422(26)X2002-6
Complications, outcomes, and implications of a prolonged vegetative state in anti-NMDA receptor encephalitis: a retrospective international cohort study
Mar Guasp, MD PhDa,b,d guasp@clinic.cat ∙ Mateus Mistieri Simabukuro, MD PhDe,f ∙ Guillermo Muñoz-Sánchez, MScg ∙ Juliette Brenner, MDh ∙ Katharina Wurdack, MDi ∙ Kang Wang, MDj ∙ et al.
https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(26)00030-X/abstract?utm_campaign=update-laneur&utm_medium=email&dgcid=hubspot_update_feature_updatealerts_laneur&_hsenc=p2ANqtz--asl9K6xeExB6oTrdOuWHq_ML0jt0cdWaq9YdFeawcJZGSnCOYpkXNRiQoALJ6ZwesN5ESFJpXgXEc74t9cJCIhNnlTA&_hsmi=411577163&utm_content=411553863&utm_source=hs_email
Hand prostheses with somatosensory feedback: functional and clinical benefits
Solaiman Shokur, PhDa,b,c,d solaiman.shokur@santannapisa.it ∙ Michela Bassolino, PhDe,f ∙ Norbert Kang, MDg ∙ Rochelle Ackerley, PhDh ∙ Silvestro Micera, PhD
https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(25)00493-4/fulltext?dgcid=hubspot_update_feature_updatealerts_laneur&utm_campaign=update-laneur&utm_medium=email&_hsenc=p2ANqtz-_h5TCjAYK_HpjxKOWaSGVegwH2gquEnF-JSw1TDVbJ9y32Q-PrSG3uZwBUAV5k9xC1pKlPowTH8CkJXs2lDfPY1ido3A&_hsmi=411577163&utm_content=411553863&utm_source=hs_email
From diagnosis to equitable care in bleeding disorders The Lancet Haematology ++... ++
From diagnosis to equitable care in bleeding disorders
The Lancet Haematology
https://www.thelancet.com/journals/lanhae/article/PIIS2352-3026(26)00069-4/fulltext?dgcid=raven_jbs_etoc_email
Apr 2026
Volume 13Number 4e187-e266
https://www.thelancet.com/journals/lanhae/issue/vol13no4/PIIS2352-3026(26)X2003-8
Implications of changes in WHO haemoglobin elevation adjustment guidelines on global, regional, and national anaemia burden, 1990–2023: a population-based modelling study
Corey J Teply, MSca,† ∙ William M Gardner, MPHa,e,† ∙ Taylor S Noyes, MPHa ∙ Theresa A McHugh, PhDa ∙ Heidi A Tandiono, BSca ∙ Ni Gusti Ayu Nanditha, PhDa ∙ et al.
https://www.thelancet.com/journals/lanhae/article/PIIS2352-3026(26)00013-X/abstract?dgcid=raven_jbs_etoc_feature_lanhae
Carfilzomib, lenalidomide, and dexamethasone compared with lenalidomide treatment after autologous haematopoietic stem-cell transplantation in patients with multiple myeloma (ATLAS): primary analysis of a randomised, open-label, phase 3 trial
Prof Dominik Dytfeld, MDa ∙ Prof Tomasz Wróbel, MDb ∙ Prof Krzysztof Jamroziak, MDc ∙ Tadeusz Kubicki, MDa ∙ Paweł Robak, MDd ∙ Anna Puła, MDd,e ∙ et al.
https://www.thelancet.com/journals/lanhae/article/PIIS2352-3026(26)00011-6/abstract?dgcid=raven_jbs_etoc_feature_lanhae
Taurine Deficiency Symptoms, Causes, and Health Risks Explained
https://www.news-medical.net/health/Taurine-Deficiency-Symptoms-Causes-and-Health-Risks-Explained.aspx
Explore how taurine supports vital organ function and why even subtle deficiencies may influence long-term health and disease risk.
This article explains the role of taurine in cardiovascular, neurological, metabolic, and retinal health, as well as the causes, symptoms, risk factors, and health effects of taurine deficiency. It also considers the strengths and limitations of current evidence, including findings from animal models and the relatively limited number of documented human deficiency states.1-3
Redefining the Patient Journey The Promise and Practice in NTRK Fusion-Positive Cancers CME Hilton Chicago Sunday, May 31, 2026 | 6:30 pm - 8:00 pm CT
https://na.eventscloud.com/website/94117/
Join us in Chicago for an interactive activity on NTRK fusions that equips clinicians with actionable knowledge to optimize personalized care across the patient journey. Using expert-led updates, case-based discussions, patient perspectives, and audience polling, learners will review the latest tumor-agnostic clinical data and guideline recommendations, sharpen best practices for molecular testing to reliably detect NTRK gene fusions, and apply strategies to tailor treatment decisions for adult and pediatric patients.
An emphasis on multidisciplinary collaboration and practical workflow integration will increase clinicians’ competence and confidence in coordinating care. Participants will complete the program prepared to implement evidence-based testing and management approaches to improve outcomes for patients with NTRK fusion-positive cancers.
ECG Challenge: Gallbladder Inflammation and Palpitations Philip J. Podrid, MD January 22, 2026 ++...
https://www.medscape.com/viewarticle/ecg-challenge-gallbladder-inflammation-and-palpitations-2026a10001d2?ecd=mkm_ret_260404_mscpmrk_cardio_ECG-challenge_etid8234129&uac=148436CN&impID=8234129
ECG Challenge: Cause of COPD Patient’s Elevated Heartrate?
https://www.medscape.com/index/section_60_0?ecd=mkm_ret_260404_mscpmrk_cardio_ECG-challenge_etid8234129&uac=148436CN&impID=8234129
sábado, 4 de abril de 2026
Moderate wine intake tied to slower biological aging in men
https://www.news-medical.net/news/20260402/Moderate-wine-intake-tied-to-slower-biological-aging-in-men.aspx
A large Italian cohort study suggests that moderate wine intake, as defined within a traditional Mediterranean diet, may be associated with slightly slower biological aging in men, whereas total alcohol intake showed a different, less favorable pattern.
The weight of stillness – a journey with dystonia: a first journal entry Written by Becky Johnson
https://rarerevolutionmagazine.com/the-weight-of-stillness-a-journey-with-dystonia-a-first-journal-entry/
Becky Johnson offers a candid glimpse into life with dystonia—the pain, the loss and the reshaping of self-identity. But with this comes faith, determination and a personal promise to ‘leave no stone unturned’ in her efforts to navigate this new “foreign land”
Written by Becky Johnson
Update to the Perinatal HIV Clinical Guideline
https://www.hiv.gov/blog/update-to-the-perinatal-hiv-clinical-guideline-040126?utm_source=newsletter&utm_medium=email&utm_campaign=blog&j=2942526&sfmc_sub=6992026&l=6498_HTML&u=73040813&mid=100006181&jb=0
The Panel on Treatment of HIV During Pregnancy and Prevention of Perinatal Transmission has updated the Recommendations for the Use of Antiretroviral Drugs During Pregnancy and Interventions to Reduce Perinatal HIV Transmission in the United States guidelines sections to address new data and publications where relevant.
https://clinicalinfo.hiv.gov/en/guidelines/perinatal/whats-new
Ultra-processed food: The term UPF is less than 20 years old. Here’s its social justice origins Richard Williams | April 1, 2026 + ++++ ++++
https://geneticliteracyproject.org/2026/04/01/ultra-processed-food-the-term-upf-is-less-than-20-years-old-heres-its-social-justice-origins/
Science Literacy Project Daily Digest
PTSD is almost incurable. Psychedelics can help — but only in three U.S. states and Australia
Andrew Jacobs | New York Times
https://geneticliteracyproject.org/2026/04/03/ptsd-is-almost-incurable-psychedelics-can-help-but-only-in-three-u-s-states-and-australia/
Many nail polishes contain dangerous chemicals
Ingrid Schou | Science Norway
https://geneticliteracyproject.org/2026/04/03/many-nail-polishes-contain-dangerous-chemicals/
Viewpoint: How AI-enabled corruption of the information environment might lead to an increased risk of nuclear escalation
Herbert Lin | Bulletin of the Atomic Scientists
https://geneticliteracyproject.org/2026/04/03/viewpoint-how-ai-enabled-corruption-of-the-information-environment-might-lead-to-an-increased-risk-of-nuclear-escalation/
How China engineered its agricultural revolution
David Mahon | Fair Observer
https://geneticliteracyproject.org/2026/04/03/how-china-engineered-its-agricultural-revolution/
Aspirin for your heart? Decongestants? Here are 5 popular medications that you should avoid
Trisha Pasricha | Washington Post
https://geneticliteracyproject.org/2026/04/02/aspirin-for-your-heart-decongestants-here-are-5-popular-medications-that-you-should-avoid/
As China’s science investment soars, U.S. cuts spending dramatically
Xiaoying You | Nature
https://geneticliteracyproject.org/2026/04/02/as-chinas-science-investment-soars-u-s-cuts-spending-dramatically/
Palantir: The company in the middle of the first AI war
Steven Levy | Wired
https://geneticliteracyproject.org/2026/04/02/palantir-the-company-in-the-middle-of-the-first-ai-war/
Under pressure from the Trump administration, medical schools are dropping health inequity education
Anil Oza | STAT
https://geneticliteracyproject.org/2026/04/02/under-pressure-from-the-trump-administration-medical-schools-are-dropping-health-inequity-education/
viernes, 3 de abril de 2026
CME PROGRAMS: Case Studies in Diagnosing and Managing FOP ++++ ++++ +++
CME PROGRAMS
Case Studies in Diagnosing and Managing FOP
https://checkrare.com/learning/p-case-studies-in-diagnosing-and-managing-fop/
Christiaan Scott, MD, Professor of Pediatric Rheumatology at the University of Ottawa and Raphaella Stander, MBCHB, Pediatrician at Atlantic Children’s Practice, focused on three case studies to provide physicians with education on best practices to: 1) suspect and diagnose FOP, 2) monitor and manage younger children with FOP, and 3) monitor and manage older children and adults with FOP.
CREDITS: 1.0 CME | DURATION: 1.0 hours
EXPIRES: 10/1/2026 | FEE: $0
ITP Clinical Research Highlights: ISTH 2025
https://checkrare.com/learning/p-isth2025-module2-immune-thrombocytopenia-clinical-research-highlights/
Shruti Chaturvedi, MD, Assistant Professor of Medicine at Johns Hopkins, describes the latest research being presented to better manage individuals with ITP and its clinical relevance.
CREDITS: 0.50 CME | DURATION: 0.50 hours
EXPIRES: 9/15/2026 | FEE: $0
Hemophilia Clinical Research Highlights: ISTH 2025
https://checkrare.com/learning/p-isth2025-module1-hemophilia-clinical-research-highlights/
Steven Pipe, MD, Professor of Medicine at the University of Michigan describes the latest research being presented to better manage individuals with hemophilia and its clinical relevance.
CREDITS: 0.75 CME | DURATION: 0.75 hours
EXPIRES: 9/15/2026 | FEE: $0
iTTP Clinical Research Highlights: ISTH 2025
https://checkrare.com/learning/p-isth2025-module3-immune-thrombotic-thrombocytopenic-purpura-ittp-clinical-research-highlights/
Shruti Chaturvedi, MD, Assistant Professor of Medicine at Johns Hopkins, describes the latest research being presented to better manage individuals with iTTP and its clinical relevance.
CREDITS: 0.50 CME | DURATION: 0.50 hours
EXPIRES: 9/15/2026 | FEE: $0
Myasthenia Gravis Clinical Research Highlights
https://checkrare.com/learning/p-myasthenia-gravis-clinical-research-highlights/
James F. Howard Jr, MD, provides a summary of clinically relevant data presented at AAN 2025 that can enhance the care of patients with myasthenia gravis.
CREDITS: 0.75 CME | DURATION: 0.75 hours
EXPIRES: 8/31/2026 | FEE: $0
GRIDS 2025:
Current Issues in Gene Therapies for Lysosomal Disorders
https://checkrare.com/learning/p-grids2025-session6-current-issues-in-gene-therapies-for-lysosomal-disorders/
Shunji Tomatsu, MD, PhD, Alessandra d’Azzo, PhD, Merve Emecen Sanli, MD, and Ryan Colburn, patient with Pompe disease and president of Odimm Inc, discuss new and emerging gene therapies for lysosomal disorders.
CREDITS: 1.75 CME | DURATION: 1.75 hours
EXPIRES: 12/31/2026 | FEE: $0
AI in Medicine: Transforming the Landscape of Tissue-Based Diagnostics
https://checkrare.com/learning/p-grids2025-session1-ai-in-medicine-transforming-the-landscape-of-tissue-based-diagnostics/
Behzad Najafian, MD, Professor, Department of Laboratory Medicine & Pathology, Department of Medicine at the University of Washington, Washington, USA discusses the use of artificial intelligence in identifying and managing lysosomal disorders.
CREDITS: 1.0 CME | DURATION: 1.0 hours
EXPIRES: 12/31/2026 | FEE: $0
Nanotechnology and Lysosomal Disorders
https://checkrare.com/learning/p-grids2025-session2-nanotechnology-and-lysosomal-disorders/
Stephan Stern, PhD, DABT, and Ruben Boado, PhD, Professor of Medicine, University of California at Los Angeles, California, discuss the use of nanotechnology in the treatment of lysosomal disorders.
CREDITS: 0.75 CME | DURATION: 0.75 hours
EXPIRES: 12/31/2026 | FEE: $0
Organoids and Lab-Grown Models in Lysosomal Disorders
https://checkrare.com/learning/p-grids2025-session3-organoids-and-lab-grown-models-in-lysosomal-disorders/
Mia Horowitz, PhD, Tel Aviv University, Aitor Aguirre, PhD, Michigan State University, and Ying Sun, PhD, University of Cincinnati, discuss the use of organoid models in lysosomal disorder research and drug development.
CREDITS: 1.5 CME | DURATION: 1.5 hours
EXPIRES: 12/31/2026 | FEE: $0
Expanded Applications of AI in Lysosomal Disorders
https://checkrare.com/learning/p-grids2025-session4-expanded-applications-of-ai-in-lysosomal-disorders/
Oral Alpan, MD, Svenja Keller, PhD student, University of Zurich, Shoshana Revel-Vilk, MD, PhD, Director, Gaucher Unit & Pediatric Hematology/Oncology Unit, Shaare Zedek Medical Center, Patrick Deegan, MD, University of Cambridge, and Ravi Kamath, MD, PhD, Head of Musculoskeletal Radiology, Inova Health System, discuss the applications of AI in the diagnosis and treatment of lysosomal disorders.
CREDITS: 2.0 CME | DURATION: 2.0 hours
EXPIRES: 12/31/2026 | FEE: $0
Theranostics and Lysosomal Disorders
https://checkrare.com/learning/p-grids2025-session5-theranostics-and-lysosomal-disorders/
Duarte C. Barral, PhD, NOVA University of Lisbon, Nuno Raimundo, PhD, Penn State College of Medicine, Betul Celik, PhD, Postdoctoral Fellow, Nemours Children’s Health, and Gregory Newby, PhD, Assistant Professor, Johns Hopkins School of Medicine, discuss the principles of theranostics and its application in lysosomal disorders.
Plasminogen Deficiency: Fibrin Accumulation and Its Effects on Patients by CheckRare Staff| Published on: Feb 24, 2026 ++++++
https://checkrare.com/plasminogen-deficiency-fibrin-accumulation-and-its-effects-on-patients-2/
RARE DISEASE LEARNING CENTERS
Plasminogen Deficiency: Fibrin Accumulation and Its Effects on Patients
https://checkrare.com/plasminogen-deficiency-fibrin-accumulation-and-its-effects-on-patients-2/
Plasminogen is a precursor protein that is converted into plasmin. Plasmin is crucial to break down fibrin, the main protein component of blood clots. When the body does not produce sufficient plasminogen or does not produce adequate active plasminogen, fibrin can accumulate in mucous membranous areas throughout the body.
Prader-Willi Syndrome: Underlying Causes, Natural History, and Management
https://checkrare.com/prader-willi-syndrome-underlying-causes-natural-history-and-management/
First described in 1956, Prader–Willi syndrome is a complex genetic condition that is characterized by hyperphagia (unremitting, chronic overeating) with accompanying endocrine, cognitive, and sensory deficits.
Neuroblastoma
https://checkrare.com/neuroblastoma/
Neuroblastoma is a rare childhood cancer, but it is the most common extracranial solid tumor in children. It is a neuroendocrine tumor that originates in neuroblasts or neural crest progenitor cells.
Rett Syndrome
https://checkrare.com/rett-syndrome/
Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome.
Cutaneous T-Cell Lymphoma (CTCL)
https://checkrare.com/cutaneous-t-cell-lymphoma-2/
Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders.
Tenosynovial Giant Cell Tumor (TGCT)
https://checkrare.com/tenosynovial-giant-cell-tumor-tgct/
Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).
FEATURED ARTICLES: +++++ +++++ ++++
FEATURED ARTICLES
Clinical Features and Early Identification of Prader-Willi Syndrome
https://checkrare.com/clinical-features-and-early-identification-of-prader-willi-syndrome/
Merlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers in Prader–Willi syndrome research, discusses the clinical features of this very rare disease and the critical importance of early identification.
Results of the Phase 2 PIONEER Study in Patients With Systemic Mastocytosis
https://checkrare.com/results-of-the-phase-2-pioneer-study-in-patients-with-systemic-mastocytosis/
Cem Akin, MD, PhD, Professor, Allergy and Immunology at the University of Michigan, discusses with CheckRare systemic mastocytosis, and the results of the phase 2 PIONEER study, which tested the tyrosine-kinase inhibitor avapritinib (Ayvakit) against placebo in symptomatic patients.
SMA in Focus: Practical Insights from MDA 2026
https://checkrare.com/sma-in-focus-practical-insights-from-mda-2026/
Key data updates, therapeutic strategies, and evolving standards of care in spinal muscular atrophy from MDA 2026.
Type 1 Plasminogen Deficiency Overview
https://checkrare.com/type-1-plasminogen-deficiency-overview/
Amy Shapiro, MD, a pediatric hematologist and the Medical Director and CEO of the Indiana Hemophilia and Thrombosis Center in Indianapolis, provides CheckRare an overview on type 1 plasminogen deficiency (PLGD-1).
Current Status of Gene Therapies in Rare Neuromuscular Disorders
https://checkrare.com/current-status-of-gene-therapy-in-rare-neuromuscular-disorders/
Alan Beggs, PhD and Julie A Parsons, MD, discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series.
Current Status of Gene Therapy in Lysosomal Storage Disorders
https://checkrare.com/current-status-of-gene-therapy-in-lysosomal-storage-disorders/
Nicola Longo MD, PhD and Mark Roberts, MD discuss the current status of gene therapies in lysosomal storage disorders.
Catching the Clues, Changing the Course of Lysosomal Storage Disorders
https://checkrare.com/catching-the-clues-changing-the-course-of-lysosomal-storage-disorders/
Yoshikatsu Eto, MD, PhD, Nicole Muschol, MD, Patrício Aguiar, MD, and Robert Hopkin, MD, explore the patient journey across the lysosomal storage disorder (LSD) continuum, focusing on persistent gaps in recognition, diagnosis, timely treatment initiation, and long-term care.
The Genetics of Epilepsy: The Importance of Identifying Underlying Causes
https://checkrare.com/the-genetics-of-epilepsy-the-importance-of-identifying-underlying-causes/
Isabella Herman, MD, PhD, and Tara Adams, mother of two daughters with epilepsy, discuss the challenges of accurate diagnosis and treatment in epilepsy.
Updates in IPF Chronic Cough From CHEST 2025
https://checkrare.com/updates-in-ipf-chronic-cough-from-chest-2025/
Philip Molyneaux, MD, PhD, a Professor of Interstitial Lung Disease (ILD) at Imperial College London and the Asthma+Lung UK Chair of Respiratory Research at Royal Brompton Hospital, where is also the Director of the UK National Institute for Health and Care Research (NIHR) Clinical Research Facility, discusses the results of the CORAL study.
Watch the DAYBUE® (trofinetide) in Practice Video Series to Hear Expert Insights on the First Treatment for This Rare Disease
No Results Found
Rett syndrome thought leaders discuss how DAYBUE® (trofinetide), the first and only FDA-approved treatment for Rett syndrome in adults and pediatric patients 2 years of age and older, plays a role in their patients’ treatment plans, while shedding light on their personal experiences with DAYBUE in their practices.
Updates in Refractory Chronic Cough From ERS 2025
https://checkrare.com/updates-in-refractory-chronic-cough-from-ers-2025/
Jacky Smith, MB, ChB, FRCP, PhD, Chair of Respiratory Medicine at the University of Manchester, discusses topline results from the phase 2a RIVER trial for patients with refractory chronic cough (RCC).
Survey Finds Wide-Ranging Impact of X-Linked Hypophosphatemia (XLH) on Patient Experiences
https://checkrare.com/survey-finds-wide-ranging-impact-of-x-linked-hypophosphatemia-on-patient-experiences/
Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, and Jill H. Simmons, MD, Endocrinologist at Vanderbilt University Medical Center in Nashville, Tennessee discuss the XLH Community Impact Survey and mental health in rare diseases.
New Staging Tool Available for Healthcare Providers Treating Patients With CTCL
https://checkrare.com/new-staging-tool-available-for-healthcare-providers-treating-patients-with-ctcl/
Pamela Blair Allen, MD, MSc, Hematologist, discusses the new CTCL Staging Tool.
A New Test for Patient-Reporting of Mastocytosis Control
https://checkrare.com/a-new-test-for-patient-reporting-of-mastocytosis-control/
A team of allergists, immunologists, and dermatologists sought to test a new patient-reported outcomes measure for assessing mastocytosis disease control. Their newly developed tool, called the Mastocytosis Control Test (MCT), was generated through interviews with adult patients with nonadvanced indolent systemic mastocytosis.
CLINICAL PERSPECTIVES +++++ +++++ +
CLINICAL PERSPECTIVES
MESA Extension Study of Sevasemten in Patients With Becker Muscular Dystrophy
https://checkrare.com/mesa-extension-study-of-sevasemten-in-patients-with-becker-muscular-dystrophy/
Joanne Donavan, MD, PhD, Chief Medical Officer at Edgewise Therapeutics, discusses the MESA extension study of sevasemten for the treatment of patients with Becker muscular dystrophy (BMD).
Rapid Eye Movement Sleep Behaviour Disorder in Moebius Syndrome
https://checkrare.com/rapid-eye-movement-sleep-behaviour-disorder-in-moebius-syndrome/
A study published in Cureus analyzed a case study of an adolescent with Rapid Eye Movement (REM) sleep behaviour disorder in Moebius syndrome.
How The FDA’s Plausible Mechanism Framework Is Accelerating Approval for Osteosarcoma Immunotherapy
https://checkrare.com/how-the-fdas-plausible-mechanism-framework-is-accelerating-approval-for-osteosarcoma-immunotherapy/
Paul Romness, CEO of OS Therapies, discusses the Plausible Mechanism Framework draft guidance and how it will affect the approval process of OST-HER2 LM for the treatment of osteosarcoma.
CHMP Recommends Mavorixafor for WHIM Syndrome
https://checkrare.com/chmp-recommends-mavorixafor-for-whim-syndrome/
The European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion recommending marketing authorization for mavorixafor (Xolremdi) for the treatment of patients with WHIM syndrome.
CureSHANK: Update on Clinical Research in Phelan-McDermid Syndrome
https://checkrare.com/cureshank-update-on-clinical-research-in-phelan-mcdermid-syndrome/
Geraldine Bliss, Co-Founder and President of CureSHANK, and Jenny Graham Beeson, Board Member for CureSHANK, discuss clinical research in Phelan-McDermid syndrome (PMS) and the Start Genetic initiative.
New Clinical Trial Testing On-Demand Use of Deucrictibant in Patients With Hereditary Angioedema
https://checkrare.com/new-clinical-trial-testing-on-demand-use-of-deucrictibant-in-patients-with-hereditary-angioedema/
Peng Lu, MD, PhD, Chief Medical Officer at Pharvaris, and Wim Souverijns, PhD, Chief Commercial Officer at Pharvaris, discuss the RAPIDe-3 clinical trial of deucrictibant for patients with hereditary angioedema (HAE).
First Patient Dosed in FALCON Clinical Trial Evaluating SGT-212 Gene Therapy for Friedreich’s Ataxia
https://checkrare.com/first-patient-dosed-in-falcon-clinical-trial-evaluating-sgt-212-gene-therapy-for-friedreichs-ataxia/
Gabriel Brooks, MD, Chief Medical Officer at Solid Biosciences, and Russell Lonser, MD, of The Ohio State University Wexner Medical Center, discuss SGT-212 and the FALCON clinical trial for patients with Friedreich's ataxia.
Gene Therapy in Patients With MPS IIIA
https://checkrare.com/gene-therapy-in-patients-with-mps-iiia/
Brian Bigger, PhD, Professor of Advanced Therapeutics at the University of Edinburgh, discusses hematopoietic stem cell gene therapy (HSCGT) in patients with mucopolysaccharidosis IIIA (MPS IIIA; Sanfilippo syndrome type A).
PRIZM Clinical Trial of Zagociguat in Patients With MELAS
https://checkrare.com/prizm-clinical-trial-of-zagociguat-in-patients-with-melas/
Amel Karaa, MD, Genetics and General Metabolism, Director of the Mitochondrial Disease Program at Massachusetts General Hospital, discusses the PRIZM clinical trial of zagociguat in patients with MELAS.
Chiesi Rare Disease Highlights at WORLDSymposium 2026
https://checkrare.com/chiesi-rare-disease-highlights-at-worldsymposia-2026/
Rachele Berria, MD, PhD, Senior Vice President, Head of Global Medical Affairs at Chiesi Rare Diseases, gives an overview of the company’s highlights at WORLDSymposia 2026.
Real-World Perspective on Daily Challenges of Living With MPS II
https://checkrare.com/real-world-perspective-on-daily-challenges-of-living-with-mps-ii/
Kristin McKay, President and Executive Director of Project Alive, discusses the real-world perspective on daily challenges of living with mucopolysaccharides II (MPS II).
FDA NEWS ++++ ++++
FDA NEWS
2026 Orphan Drugs: PDUFA Dates and FDA Approvals
https://checkrare.com/2026-orphan-drugs-pdufa-dates-and-fda-approvals/
Rare diseases and orphan drugs are at the forefront of novel development and groundbreaking research. Almost half of all novel medications approved by the U.S. Food and Drug Administration (FDA) are orphan drugs.
Kresladi (Marnetegragene Autotemcel) for Children with LAD-1
https://checkrare.com/accelerated-fda-approval-of-ex-vivo-gene-therapy-for-children-with-lad-1/
The US FDA has granted accelerated approval to Kresladi (marnetegragene autotemcel) for the treatment of pediatric patients with severe leukocyte adhesion deficiency-1 (LAD-1).
Avalayah (Tividenofusp Alfa) for MPS II
https://checkrare.com/accelerated-approval-granted-to-mps-ii-enzyme-replacement-therapy-that-crosses-blood-brain-barrier/
The US FDA has granted accelerated approval to Avlayah (tividenofusp alfa) for the treatment of neurologic manifestations of Hunter syndrome (MPS II).
Nivolumab With AVD for Patients With Classical Hodgkin Lymphoma
https://checkrare.com/fda-approves-nivolumab-with-avd-for-patients-with-classical-hodgkin-lymphoma/
The US FDA has approved Opdivo (nivolumab) with doxorubicin, vinblastine, and dacarbazine (AVD) for adult and pediatric patients 12 years and older with previously untreated, Stage 3 or 4 classical Hodgkin lymphoma (cHL).
Lynavoy (Linerixibat) for Cholestatic Pruritus in Primary Biliary Cholangitis
https://checkrare.com/fda-approves-lynavoy-linerixibat-for-cholestatic-pruritus-in-primary-biliary-cholangitis/
The US FDA has approved Lynavoy (linerixibat) for the treatment of cholestatic pruritus in adult patients with primary biliary cholangitis (PBC).
Lomitapide for Pediatric Patients With Homozygous Familial Hypercholesterolemia
https://checkrare.com/fda-expands-indication-of-lomitapide-to-pediatric-patients-with-homozygous-familial-hypercholesterolemia/
The US FDA has approved Juxtapid (lomitapide) capsules for the treatment of pediatric patients ages 2 years and older with homozygous familial hypercholesterolemia (HoFH).
Wellcovorin (Leucovorin) for Patients With Cerebral Folate Deficiency
https://checkrare.com/fda-approves-wellcovorin-leucovorin-for-patients-with-cerebral-folate-deficiency/
The US FDA has approved Wellcovorin (leucovorin calcium) tablets for the treatment of adult and pediatric patients with cerebral folate deficiency (CFD) with confirmed variants in the folate receptor 1 gene (CFD-FOLR1).
Potential Treatment for ROSAH Syndrome Accepted into FDA’s Rare Disease Evidence Principles Process
https://checkrare.com/potential-treatment-for-rosah-syndrome-accepted-into-fdas-rare-disease-evidence-principles-process/
The US FDA has accepted DF-003 into the FDA Rare Disease Evidence Principles Process (RDEP) for the potential treatment of ROSAH syndrome.
Jeff’s Journey With Fabry Disease by Chiesi USA| Published on: Mar 31, 2026 ++
Jeff’s Journey With Fabry Disease
by Chiesi USA| Published on: Mar 31, 2026
https://checkrare.com/jeffs-journey-with-fabry-disease/
30 Years of the Fabry Support and Information Group
by Madaline Spencer| Published on: Apr 1, 2026
https://checkrare.com/30-years-of-the-fabry-support-and-information-group/
Childhood cancer: progress, but not enough The Lancet ++... +
Childhood cancer: progress, but not enough
The Lancet
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(26)00655-0/fulltext?dgcid=raven_jbs_etoc_email
Apr 04, 2026
Volume 407Number 10536p1303-1396
https://www.thelancet.com/journals/lancet/issue/vol407no10536/PIIS0140-6736(26)X2011-6
Pyruvate kinase activators in hereditary haemolytic anaemias: current evidence and clinical potential
Thomas Doeven, MDa ∙ Andreas Glenthøj, MDb ∙ Rachael F Grace, MDc ∙ Eduard J van Beers, MD PhD
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(26)00150-9/abstract?dgcid=raven_jbs_etoc_feature_lancet
9 Medical Oncologic Emergencies You Need to Know Nicole Cimino-Fiallos, MD, FACEP March 24, 2026 ++++
https://reference.medscape.com/p11/9-medical-oncologic-emergencies-you-need-know-2026a10007zk?ecd=wnl_critimg_260403_mscpref_etid8233386&uac=148436CN&impID=8233386
High-Stakes Management in Urgent Cancer Care
Medical emergencies in patients with cancer can arise as complications of the disease itself and/or treatment for the tumor(s). It is critical that clinicians across all specialties not only be aware of — and quickly recognize — the potential oncologic emergencies that may occur but also know how to provide urgent and effective care to manage such clinical crises.
Neutropenic Fever Empiric Therapy
Updated: Mar 04, 2025
Author: John L Reagan, MD; Chief Editor: Thomas E Herchline, MD
https://emedicine.medscape.com/article/2012185-overview?ecd=wnl_critimg_260403_mscpref_etid8233386&uac=148436CN&impID=8233386
Tumor Lysis Syndrome
Updated: Sep 16, 2024
Author: Alan K Ikeda, MD; Chief Editor: Wafik S El-Deiry, MD, PhD
https://emedicine.medscape.com/article/282171-overview?ecd=wnl_critimg_260403_mscpref_etid8233386&uac=148436CN&impID=8233386
Hypercalcemia of Malignancy: What Osteoporosis Drug Is Best?
Jim Kling
https://www.medscape.com/viewarticle/hypercalcemia-malignancy-what-osteoporosis-drug-best-2025a1000og9?ecd=wnl_critimg_260403_mscpref_etid8233386&uac=148436CN&impID=8233386
September 16, 2025
Postpartum Depression Can Become Suicidal By Ivanhoe Broadcast News on April 10, 2026
https://www.ivanhoe.com/?p=36910&preview=1&_ppp=1838c2f238
ORLANDO, Fla. (Ivanhoe Newswire) — Postpartum depression affects about one in eight women in the U.S. within the first year after giving birth. The condition can be debilitating and overwhelming for new moms. Now, new approaches are showing promise when it comes to diagnosing and treating post partum depression.
Intermittent Fasting: A Clear Look at the Basics By Ivanhoe Broadcast News on April 9, 2026
https://www.ivanhoe.com/?p=36907&preview=1&_ppp=f2f132b115
ORLANDO, Fla. (Ivanhoe Newswire) — According to a new study published in the journal of the American Medical Association, the number of Americans living with obesity is expected to rise by 19 million and affect nearly 126 million people by 2035! Experts say intermittent fasting is a good way to lose weight. While there are benefits, there are some things to be aware of.
VR Escape for Caregivers: 30% Less Anxiety By Ivanhoe Broadcast News on April 8, 2026
https://www.ivanhoe.com/?p=36904&preview=1&_ppp=6e4f0ab578
STANFORD, Calif. (Ivanhoe Newswire) — Most parents with young children will tell you that they’ll do anything for them, especially when they’re not feeling well. However, with a serious hospitalization, the stress and anxiety can be overwhelming. That’s why one hospital has recently come up with an innovative way to ease the parents’ worry. Caregivers
Kratom: Safe or a Self-Induced Death Sentence? By Ivanhoe Broadcast News on April 7, 2026
https://www.ivanhoe.com/?p=36901&preview=1&_ppp=7be8ef41e2
ORLANDO, Fla. (Ivanhoe Newswire) — The CDC reports that last year over 73,000 people died of drug overdoses. While a lot of attention is currently on fentanyl, in the past few years, a new drug has been slowly causing damage. And — it’s legal in most of the U.S. It’s banned for purchase in the states of Alabama, Arkansas, Connecticut, Louisiana, Indiana, Rhode Island, Vermont, and Wisconsin. You can buy it online and at smoke shops, gas stations, and health food stores.
Saving Your Gut! By Ivanhoe Broadcast News on April 6, 2026
https://www.ivanhoe.com/?p=36898&preview=1&_ppp=70508f9e9c
ORLANDO, Fla. (Ivanhoe Newswire) — The human gut microbiome contains about 4,500 different types of bacteria that help keep your body working properly. But when the microbiome is disrupted, it can lead to health problems.
The Future Directions Across the Spectrum of Breast Cancer +... ++++
https://www.medscape.org/sites/advances/pan-breast-cancer?src=mkmcmr_driv_clinad_mscpedu&uac=148436CN
Navigating the HER2 Spectrum in Breast Cancer: Evolving Diagnostic Paradigms for Clinical Excellence
Authors: Sara M. Tolaney, MD, MPH; Frédérique Penault-Llorca, MD; Giuseppe Curigliano, MD, PhD
https://www.medscape.org/viewarticle/navigating-her2-spectrum-breast-cancer-evolving-diagnostic-2026a10004ea?page=1
2025 Winter Conference Update: Novel and Emerging Treatment Strategies for Breast Cancer
Authors: François-Clément Bidard, MD, PhD; Mothaffar F. Rimawi, MD, FACP; Nadia Harbeck, MD, PhD
https://www.medscape.org/viewarticle/winter-conference-update-novel-and-emerging-treatment-2026a100030r?page=1
How Are ADCs Shaping the Future of Early Breast Cancer Care? Latest Insights and Emerging Strategies
Authors: Nadia Harbeck, MD, PhD; Giuseppe Curigliano, MD, PhD
https://www.medscape.org/viewarticle/how-are-adcs-shaping-future-early-breast-cancer-care-latest-2025a1000yca?page=1
How Are Oral SERDs Changing the Management of Advanced HR-Positive Breast Cancer?
Authors: Erica L. Mayer, MD, MPH; François-Clément Bidard, MD, PhD
https://www.medscape.org/viewarticle/how-are-oral-serds-changing-management-advanced-hr-positive-2025a1000xkg?page=1
jueves, 2 de abril de 2026
A single viral platform shows promise across infectious disease and cancer ReiThera’s gorilla-derived adenovirus vector is helping advance vaccines and therapies for COVID-19, HIV, Ebola, and even cancer.
https://www.drugdiscoverynews.com/a-single-viral-platform-shows-promise-across-infectious-disease-and-cancer-17103
At Advanced Therapies 2026, DDN spoke with Claudio Panzarella, Head of Business Development, and Angelo Raggioli, Head of Technology Development, at ReiThera, about how the company’s early COVID-19 vaccine efforts shaped its current scientific programs, including the gorilla adenovirus (GRAd) platform, ongoing HIV vaccine trials, and the potential for oncology therapeutics.
Next generation approaches to achondroplasia care Oral FGFR3-targeted therapies are emerging as a potential step forward, offering more precise, convenient treatment options for children.
https://www.drugdiscoverynews.com/next-generation-approaches-to-achondroplasia-care-17104
Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia, affecting an estimated 4.6 per 100,000 births worldwide. The condition arises from a gain-of-function mutation in FGFR3 (fibroblast growth factor receptor 3), which disrupts endochondral ossification and leads to characteristic short stature and limb proportions. Beyond stature, individuals with achondroplasia may face complications across the lifespan, including foramen magnum stenosis, spinal canal narrowing, sleep-disordered breathing, and challenges with activities of daily living, all of which can impact quality of life and necessitate multidisciplinary care.
Electromagnetic (EM) Spectrum
https://scied.ucar.edu/learning-zone/earth-system/electromagnetic-spectrum
Ask an optometrist: What’s the impact of blue light on vision?
https://www.linkedin.com/pulse/ask-optometrist-whats-impact-blue-light-vision-lw3ge/
There’s a commonly held belief that blue light from digital devices damages your eyes. Here, an expert weighs in.
Do a quick internet search, and you’ll probably turn up plenty of information stating that blue light from digital devices can hurt your vision—not to mention lead to other alarming effects like sleep disruption and even mental health changes. But there are several misconceptions about blue light, according to John Buch, a Senior Principal Research Optometrist at Johnson & Johnson.
Primarily, there’s confusion about the main source of blue light. While people get up in arms about digital screens, “far and away, the most abundant and strongest source of natural blue-violet radiation is from the sun; so really, anytime you walk outside you’re being exposed to blue light,” Buch says.
He explains that while computer screens, smartphones and televisions do emit blue light, the scale at which they do is vastly different from the sun. “Just 15 minutes of exposure to sunlight has been equated to 13 hours of nonstop looking at a computer screen. That said, it can’t be refuted that computer screens do emit the blue-violet end of the spectrum.”
Setting industry standards: What is blue light?
The electromagnetic spectrum includes a wide range of light, such as ultraviolet, gamma rays and X-rays. Humans can see a portion of the spectrum called visible light, ranging from violet light with a wavelength of 380 nanometers (nm) to blue, green, yellow, orange and red light measuring up to 780 nm. Within that visible spectrum, many people talk about high-energy visible (HEV) light, which is the blueish violet end of the spectrum, and has shorter wavelength and higher energy than other colors, Buch says. And within that HEV spectrum of 380-500 nm light, blue-violet light is an even narrower field, generally defined as light on the spectrum between 380-450 nm.
Why microcephaly must be included in global rare disease agendas: Africa’s perspective
https://rarerevolutionmagazine.com/why-microcephaly-must-be-included-in-global-rare-disease-agendas-africas-perspective/
Written by Lenah Musangi, founder of Care Beyond Limits – Microcephaly Africa Foundation (CBL-MAF)
Lenah Musangi is the founder of Care Beyond Limits – Microcephaly Africa Foundation (CBL-MAF), a leading voice for microcephaly advocacy and support across the African continent. She is dedicated to dismantling stigma and ensuring that children with neurological rarities are centred in global health and policy conversations
In the quiet corners of rural villages and the bustling streets of Nairobi, there is a community of children whose voices are often unheard. These are children born with microcephaly, a rare neurological condition where a baby’s head is significantly smaller than expected. While the world discusses rare diseases through the lens of advanced genomics and precision medicine, for many families in Africa, the reality is far more fundamental—and far more isolated.
At CBL-MAF, we believe that “rare” should not mean “forgotten”. As we look toward the global rare disease agendas of 2026, it is time to centre the African perspective, where microcephaly is not just a clinical diagnosis but a profound intersection of health equity, environmental factors and social justice.
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