epidermal inclusion cyst of the breast a case report

Original title: “Epidermal inclusion cyst of the breast: A case report.”

Gene and cell therapy research has historically put a large focus on targeting rare and ultra rare diseases. Indeed, gene therapy sometimes constitutes the only modality capable of modifying the underlying disease in rare genetic disorders, and as such is a natural choice for therapeutic ... Gene and cell therapy research has historically put a large focus on targeting rare and ultra rare diseases. Indeed, gene therapy sometimes constitutes the only modality capable of modifying the underlying disease in rare genetic disorders, and as such is a natural choice for therapeutic development in such indications. The director of the Mass General Brigham Gene and Cell Therapy Institute discussed a trend of doctors and scientists working on models to make gene therapy products financially viable. As such, therapeutics that may be viable on a technical level are unlikely to become available to patients for financial reasons under current commercialization models. In the face of this challenge, many scientists and doctors working across the fields of rare disease are seeking ways to overcome this obstacle. Roger Hajjar, MD, the director of the Mass General Brigham’s Gene and Cell Therapy Institute, emphasized the importance of this point in the context of a broader discussion with CGTLive® at “One area that encompasses all of gene and cell therapy is the fact that many of the diseases that are being targeted are rare or ultra rare.

Original title: “Roger Hajjar, MD, on the Commercial Viability of Gene Therapy for Ultra Rare Diseases | CGTlive®”

osteopathia striata with cranial sclerosis associated with juvenile idiopathic arthritis a case report and review of literature

Original title: “Osteopathia striata with cranial sclerosis, associated with juvenile idiopathic arthritis: A case report and review of literature.”

New research finds that while eSource adoption is advancing through EHR-to-EDC workflows, scaling its impact will depend on integrating unstructured clinical data using AI, shared standards, and collaborative validation models across sites, sponsors, and vendors. Across healthcare systems, roughly 80% of clinical information remains unstructured, typically found in free-text notes, diagnostic reports, and imaging files.4-6 In data-intensive domains such as oncology, much of the trial-relevant information still resides exclusively in narrative form—within pathology narratives, radiology findings, and clinician observations that rarely appear in coded EHR fields. Unless these sources are captured and linked to structured datasets, eSource adoption risks plateauing at partial coverage. Unstructured data hold critical contextual detail that can clarify eligibility, disease stage, and treatment response. More than 80% of healthcare information remains unstructured, locked in free-text notes, pathology and radiology reports, or imaging files.4,5 In oncology and rare-disease trials, between 45-70% of trial-relevant variables exist only in unstructured formats.6 Unless these sources are incorporated, eSource adoption risks plateauing at partial coverage. This fragmentation limits reusability, slows trial start-up, and sustains reliance on manual abstraction—one of the largest hidden costs in clinical research. Unstructured data, comprising over 80% of healthcare information, is critical for comprehensive eSource adoption in clinical trials, especially in oncology and rare diseases. Recruitment remains one of the largest cost drivers in clinical research, and unstructured data can help identify patients meeting complex eligibility criteria not captured in structured fields. Chris Harrison explained, “Anything that can help satisfy qualification for patients on trial is really important. Eligibility is clearly one of the immediate priorities for us.” · By surfacing comorbidities, prior treatments, and disease status in clinical notes, investigators can broaden recruitment pools and reduce screening failures.

Original title: “Unlocking Unstructured Health Data: Scaling eSource-Enabled Clinical Trials | Applied Clinical Trials Online”

concurrent development of b cell lymphoblastic lymphoma and histiocytic sarcoma in a c57bl 6 laboratory mouse a case report

Original title: “Concurrent Development of B-Cell Lymphoblastic Lymphoma and Histiocytic Sarcoma in a C57BL/6 Laboratory Mouse: A Case Report.”

Cellular immunotherapies encompass a broad and rapidly developing group of treatments comprising expanded and/or genetically engineered immune cells, which use the specific properties of human immune cells to counteract human immune-mediated disease. Initially approved for cancers of the B ... Cellular immunotherapies encompass a broad and rapidly developing group of treatments comprising expanded and/or genetically engineered immune cells, which use the specific properties of human immune cells to counteract human immune-mediated disease. Initially approved for cancers of the B cell lineage, a growing arsenal of cellular immunotherapies are being applied to autoimmune diseases, including chimeric antigen receptor (CAR) T cells, chimeric autoantibody receptor T cells, regulatory T cells and CAR-engineered innate immune cells. Engineered cellular immunotherapy shows great potential for treating autoimmune diseases. Payne and colleagues review emerging clinical data of the most recently developed technologies. Nature Biotechnology - Engineered cellular immunotherapy shows great potential for treating autoimmune diseases. Payne and colleagues review emerging clinical data of the most recently developed... Reengineering chimeric antigen receptor T cells for targeted therapy of autoimmune disease. Science 353, 179–184 (2016). ... Lee, J. et al. Antigen-specific B cell depletion for precision therapy of mucosal pemphigus vulgaris. J. Clin. Invest. 130, 6317–6324 (2020). This paper highlights the preclinical data leading to FDA clearance of the DSG3-CAART Investigational New Drug application, representing the first highly targeted precision cellular immunotherapy to enter clinical trials for an autoimmune disease indication.

Original title: “Clinical progress of engineered cellular immunotherapies for autoimmunity | Nature Biotechnology”

novel trnaser agy 12244g a variant impairs mitochondrial function and presents with classical melas phenotype

Original title: “A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.”

humanized and charge optimized cspg4 specific car t cells show enhanced efficacy against head and neck squamous cell carcinoma

Original title: “Humanized and Charge-Optimized CSPG4-Specific CAR-T Cells show Enhanced Efficacy against Head and Neck Squamous Cell Carcinoma.”

recurrent obturator hernia in a patient with autosomal dominant polycystic kidney disease undergoing peritoneal dialysis a case report

Original title: “Recurrent obturator hernia in a patient with autosomal dominant polycystic kidney disease undergoing peritoneal dialysis: a case report.”

congenital erythropoietic porphyria with persistent severe biochemical abnormalities and a non mutilating clinical course a case report

Original title: “Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.”

sars cov 2 variant specific protective immunity and long term immune recovery in people living with hiv a retrospective cohort study

Original title: “SARS-CoV-2 Variant Specific Protective Immunity and Long-term Immune Recovery in People Living With HIV: A Retrospective Cohort Study.”

improving hygiene compliance among family caregivers through infection prevention and control interventions in bangladeshi hospitals a pilot study

Original title: “Improving hygiene compliance among family caregivers through infection prevention and control interventions in Bangladeshi hospitals: a pilot study.”

revisiting the safety of short term systemic corticosteroids safety of short term systemic corticosteroids

Original title: “Revisiting the Safety of Short-term Systemic Corticosteroids: Safety of short-term systemic corticosteroids.”

assessing the structural validity of the scl dep6 depression subscale using rasch analysis

Original title: “Assessing the structural validity of the SCL-Dep6 depression subscale using rasch analysis.”

genetic insights into hypospadias in the taiwanese population a whole exome sequencing study in a single center

Original title: “Genetic insights into hypospadias in the Taiwanese population: a Whole-Exome Sequencing study in a single center.”

case report thrombosed mitral leaflets in a patient with rheumatic heart disease a rare clinical case

Original title: “Case Report: Thrombosed Mitral Leaflets in a Patient With Rheumatic Heart Disease: A Rare Clinical Case.”

hepatopulmonary syndrome associated with metabolic dysfunction associated steatotic liver disease in a patient with interstitial pneumonia and copd

Original title: “Hepatopulmonary Syndrome Associated With Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient With Interstitial Pneumonia and COPD.”

dobseqwf a framework for sensitive detection of individual genetic variation in pooled sequencing data

Original title: “DoBSeqWF: a framework for sensitive detection of individual genetic variation in pooled sequencing data.”

nonmetastatic pulmonary carcinoid presenting with carcinoid syndrome despite negative 5 hiaa a case report

Original title: “Nonmetastatic Pulmonary Carcinoid Presenting With Carcinoid Syndrome Despite Negative 5-HIAA: A Case Report.”

human genetics of susceptibility to live attenuated viral vaccines

Original title: “Human genetics of susceptibility to live-attenuated viral vaccines.”