novel vps45 p his331tyr variant presenting with severe hypersplenism and epstein barr virus reactivation a case report

Original title: “A Novel VPS45 p.(His331Tyr) Variant Presenting With Severe Hypersplenism and Epstein-Barr Virus Reactivation: A Case Report.”

labetalol induced hyperkalemia in acute aortic dissection a rare but clinically relevant adverse effect

Original title: “Labetalol-induced hyperkalemia in acute aortic dissection: A rare but clinically relevant adverse effect.”

novel compound heterozygous atad3a variants in harel yoon syndrome with congenital cataracts and dilated cardiomyopathy

Original title: “Novel Compound Heterozygous ATAD3A Variants in Harel-Yoon Syndrome With Congenital Cataracts and Dilated Cardiomyopathy.”

medical and psychosocial challenges among patients with hypoparathyroidism in china a cross sectional online survey

Original title: “Medical and Psychosocial Challenges Among Patients with Hypoparathyroidism in China: A Cross-Sectional Online Survey.”

loss of the human brip1 c terminus does not cause fanconi anemia

Original title: “Loss of the human BRIP1 C terminus does not cause Fanconi anemia.”

childhood onset indolent progression and risk of hepatic rupture the natural history of hereditary lysozyme amyloidosis

Original title: “Childhood onset, indolent progression, and risk of hepatic rupture: the natural history of hereditary lysozyme amyloidosis.”

toward routine implementation of phage testing an inter laboratory comparison of a disk based susceptibility testing disk pst

Original title: “Toward routine implementation of phage testing: an inter-laboratory comparison of a disk-based susceptibility testing (Disk-PST).”

papillary fibroelastoma of the coumadin ridge as an unusual cause of recurrent ischemic stroke a case report

Original title: “Papillary fibroelastoma of the coumadin ridge as an unusual cause of recurrent ischemic stroke: a case report.”

phenotypic and genotypic analysis of two rare cases of sea 4 3 hbh disease

Original title: “Phenotypic and Genotypic Analysis of Two Rare Cases of --(SEA)/-α(4.3) HbH Disease.”

from biopsy to genotype clinical and genetic landscape of pediatric congenital myopathies in a single centre series

Original title: “From biopsy to genotype: Clinical and genetic landscape of pediatric congenital myopathies in a single-centre series.”

genetic susceptibility in takotsubo syndrome a candidate gene association analysis in the french takogene cohort

Original title: “Genetic susceptibility in Takotsubo syndrome: a candidate gene association analysis in the French TAKOGENE cohort.”

conceptualising health economic models using a graph retrieval augmented agentic ai framework with human in the loop validation proof of concept study

Original title: “Conceptualising Health Economic Models Using a Graph Retrieval-Augmented, Agentic AI Framework with Human-in-the-Loop Validation: Proof-of-Concept Study.”

beyond eczema control long term outcomes of dupilumab therapy in six patients with netherton syndrome

Original title: “Beyond Eczema Control: Long-Term Outcomes of Dupilumab Therapy in Six Patients with Netherton Syndrome.”

vulvovaginal myxoid epithelioid smooth muscle tumor with ncoa2 rearrangement case report and literature review

Original title: “Vulvovaginal Myxoid Epithelioid Smooth Muscle Tumor With NCOA2 Rearrangement: Case Report and Literature Review.”

endoscopic transorbital approach for resection of meckel s cave aspergillosis illustrative case

Original title: “Endoscopic transorbital approach for resection of Meckel's cave aspergillosis: illustrative case.”

postmortem presentation and review of danon disease a rare metabolic disorder

Original title: “Postmortem Presentation and Review of Danon Disease: A Rare Metabolic Disorder.”

acute macular neuroretinopathy is the name still appropriate

Original title: “Acute macular neuroretinopathy: is the name still appropriate?”

brought with the wind a case of melioidosis acquired in the united states presenting with multiple pulmonary nodules

Original title: “Brought with the wind: A case of melioidosis acquired in the United States presenting with multiple pulmonary nodules.”

letter to the editor

Original title: “Letter to the Editor.”

Check out the most exciting updates from day 3 of Breakthrough T1D's Clinical and Research Congress focused entirely on type 1 diabetes. Peter Senior, MBBS, Ph.D. (University of Alberta) and Colin Dayan, MBBS, Ph.D. (University of Birmingham) debated the safety, costs, monitoring, potential long-term outcomes, and considerations for global access of disease-modifying therapies (DMTs) versus islet cell therapies. Dr. Dayan made the case that islet cell therapies may be effective in the short-term, but in the long-term they might not be scalable, affordable, or deliverable globally. On the flip side, emerging DMTs may allow for a one-and-done treatment—meaning they could be far more affordable and easily accessible, especially in the pediatric population. We know that teplizumab (Tzield) works, but individual responses can be variable and there may be an optimal treatment window. Now that we have an approved DMT, the question becomes: do we use teplizumab as a comparator in clinical trials instead of a placebo, so that everyone who participates has a chance to benefit? Centers of Reference are expert multidisciplinary T1D care centers that are preparing healthcare professionals (HCPs) around the world to administer manufactured islet cell therapies to people with T1D. The goal is to make sure that expert clinical teams—who are already doing islet cell transplants at low scale—are ready to integrate these therapies into clinical practice at their institutions and train others, once they have regulatory approval. Breakthrough T1D has created several working groups to help move these therapies forward now so they’re ready when cell therapies are (at scale). These include: Training and education, including a clinician training program launched with ATTD in Europe and the American College of Diabetology in the US.

Original title: “CRC 2026 Recap: Day 3”