rare benign chondroid tumor of the main pulmonary artery

Original title: “A rare benign chondroid tumor of the main pulmonary artery.”

decoding epilepsy s molecular blueprint machine learning unravels transcriptomic subtypes and regulatory networks

Original title: “Decoding epilepsy's molecular blueprint: Machine learning unravels transcriptomic subtypes and regulatory networks.”

profound hyponatraemia in early onset preeclampsia a case report of a rare and complex presentation

Original title: “Profound hyponatraemia in early-onset preeclampsia: a case report of a rare and complex presentation.”

Combining tirzepatide with vitamin B12, a common additive in compounded versions of the drug, yields an impurity that could alter the drug’s toxicity profile and pose safety risks to patients, the company said in an open letter.

Original title: “Lilly Flags ‘Concerning’ Impurities in Compounded Tirzepatide”

Data presented at the 2026 Muscular Dystrophy Association meeting could have readthroughs to companies developing therapies for spinal muscular atrophy, Duchenne muscular dystrophy and Becker muscular dystrophy.

Original title: “MDA 2026: Biogen, Sarepta, Edgewise Address Muscle Disorders”

transcriptome analysis reveals cross kingdom virulence factors in erwinia persicina cp2

Original title: “Transcriptome Analysis Reveals Cross-Kingdom Virulence Factors in Erwinia persicina Cp2.”

A personalized gene editing therapy was successfully used to treat an infant with CPS1 deficiency, a disease that causes ammonia buildup in the blood. The technology used creates an opportunity for the development of personalized treatments for other rare diseases. A personalized gene editing therapy was successfully used to treat an infant with CPS1 deficiency, a disease that causes ammonia buildup in the blood. The technology used creates an opportunity for the development of personalized treatments for other rare diseases. ... An infant born with a lethal metabolic disorder was cured with a groundbreaking approach that involved a personalized gene-editing therapy developed and administered in less than a year. The study’s authors anticipate that similar approaches could be developed for hundreds of other metabolic disorders affecting the liver. While this treatment was developed under emergency conditions, they believe “rapid deployment of patient-specific gene-editing therapies will become routine for many genetic diseases,” the authors wrote. The treatment developed by researchers at Penn used a CRISPR-based technology, which chemically cuts and modifies a patient’s genetic code. The first CRISPR-based therapy, Casgevy (exagamglogene autotemcel), was approved in December 2023 to treat patients with sickle cell disease and in January 2024 to treat patients with beta-thalassemia. Gene Therapy for Inherited Metabolic Disorders Frontier Program (GTIMD) at CHOP, in a

Original title: “Breakthrough Gene Therapy Saves Infant With Rare Metabolic Disease | Managed Healthcare Executive”

The availability of TNF inhibitor biosimilars and the cost of treating ‘difficult-to-treat’ RA are making first-line TNF inhibition in early RA more attractive in the UK. Researchers at the University of Leeds identified patients with early RA in their inflammatory arthritis cohort who were naive to disease-modifying antirheumatic drugs (DMARDs) and treated with an anti-TNF agent as first-line induction therapy for 12 months as part of a clinical trial. A study from the University of Leeds, Leeds, England, showing an association between first-line anti-TNF therapy in early rheumatoid arthritis (RA) and a significantly lower rate of difficult-to-treat (D2T) disease at 5 years was highlighted as one of last year’s notable studies in RA at the 2026 Rheumatology Winter Clinical Symposium (RWCS) in Maui, Hawaii. Baseline characteristics, including median seropositivity, symptom duration, and baseline DAS28-ESR (Disease Activity Score in 28 joints using erythrocyte sedimentation rate), were similar in the two groups. Mankia, professor of clinical and translational rheumatology at the University of Leeds, said in the interview that several previous studies have already indicated that first-line anti-TNF therapy produces faster disease remission compared with usual treat-to-target care. Previous work at Leeds showed that a reduced frequency of CD4 naive T cells were predictive of a poor response to first-line methotrexate in patients with early RA, Mankia said, noting that the team hopes to present its TEEMS trial findings at EULAR 2026. Current guidelines in the US suggest early anti-TNF therapy, but “only after methotrexate or other DMARDs, and they often lump multiple b/tsDMARDs as similar second-line choices,” Cush said. “The research [on frequency of D2T disease] suggests that TNF inhibitors should be or could be first-line DMARD therapy,” he said, pending future prospective studies.

Original title: “Early, First-Line Use of Anti-TNF Therapy to Prevent Difficult-to-Treat Rheumatoid Arthritis Gains Steam”

treatment with valoctocogene roxaparvovec in a patient with severe hemophilia a led to sustained normal fviii levels

Original title: “Treatment With Valoctocogene Roxaparvovec in a Patient With Severe Hemophilia A Led to Sustained Normal FVIII Levels.”

effects of digital health interventions on motor symptoms nonmotor symptoms and quality of life in patients with parkinson disease systematic review and meta analysis of randomized controlled trials

Original title: “The Effects of Digital Health Interventions on Motor Symptoms, Nonmotor Symptoms, and Quality of Life in Patients With Parkinson Disease: Systematic Review and Meta-Analysis of Randomized Controlled Trials.”

congenital cyclic oculomotor palsy and spasms a review of the literature and presentation of two new cases

Original title: “Congenital cyclic oculomotor palsy and spasms: a review of the literature and presentation of two new cases.”

esc guidelines 2025 on cardiovascular disease and pregnancy considerations and future perspectives

Original title: “ESC guidelines 2025 on cardiovascular disease and pregnancy: considerations and future perspectives.”

pyruvate kinase activators in hereditary haemolytic anaemias current evidence and clinical potential

Original title: “Pyruvate kinase activators in hereditary haemolytic anaemias: current evidence and clinical potential.”

evaluation of novel assays of non ceruloplasmin copper to monitor chelation treatment in patients with wilson disease monitoring chelation treatment in wilson disease

Original title: “Evaluation of novel assays of non-ceruloplasmin copper to monitor chelation treatment in patients with Wilson disease: Monitoring chelation treatment in Wilson disease.”

diagnostic and therapeutic challenges in mammary and extra mammary paget disease a retrospective case series

Original title: “Diagnostic and therapeutic challenges in mammary and extra-mammary Paget disease: a retrospective case series.”

surface sampling pre and post decontamination in uk hospital rooms occupied by a 2021 household cluster of clade iib mpox cases

Original title: “Surface sampling pre- and post-decontamination in UK hospital rooms occupied by a 2021 household cluster of Clade IIb mpox cases.”

role of endomyocardial biopsy and bachmann s bundle pacing for sinus node dysfunction in cardiac amyloidosis

Original title: “Role of Endomyocardial Biopsy and Bachmann's Bundle Pacing for Sinus Node Dysfunction in Cardiac Amyloidosis.”

rising burden of severe pediatric coccidioidomycosis a 25 year single center study

Original title: “Rising Burden of Severe Pediatric Coccidioidomycosis: A 25-Year Single Center Study.”

comparison of ipaq sf self reported and fitbit measured physical activity in young people with haemophilia

Original title: “Comparison of IPAQ-SF Self-Reported and Fitbit-Measured Physical Activity in Young People With Haemophilia.”

constructing a protein protein interaction network for autoimmune liver diseases by integrating pqtl rqtl and mediation analyses

Original title: “Constructing a protein-protein interaction network for autoimmune liver diseases by integrating pQTL, rQTL, and mediation analyses.”