tbuckley/cabot-search huggingface dataset:
Systematic Review, Meta-Analysis, and Population Study to Determine the Biologic Sex Ratio in Dilated Cardiomyopathy
Authors: Natalie Bergan, Ishika Prachee, Lara Curran, Kathryn A. McGurk, Chang Lu, Antonio de Marvao, Wenjia Bai, Brian P. Halliday, John Gregson, Declan P. O’Regan, James S. Ware, Upasana Tayal
Journal: Circulation (2025)

BACKGROUND: Dilated cardiomyopathy (DCM) appears to be diagnosed twice as often in male than in female patients. This could be attributed to underdiagnosis in female patients or sex differences in susceptibility. Up to 30% of cases have an autosomal dominant monogenic cause, where equal sex prevalence would be expected. The aim of this systematic review, meta-analysis, and population study was to assess the sex ratio in patients with DCM, stratified by genetic status, and evaluate whether this is influenced by diagnostic bias. METHODS: A literature search identified DCM patient cohorts with discernible sex ratios. Exclusion criteria were studies with a small (n&lt;100), pediatric, or peripartum population. Meta-analysis and metaregression compared the proportion of female participants for an overall DCM cohort and the following subtypes: all genetic DCM, individual selected DCM genes ( TTN and LMNA ), and gene-elusive DCM. Population DCM sex ratios generated from diagnostic codes were also compared with those from sex-specific means using the UK Biobank imaging cohort; this established International Classification of Diseases, 10th revision–coded, novel imaging–first, and genotype-first–determined sex ratios. RESULTS: A total of 99 studies, with 37 525 participants, were included. The overall DCM cohort had a 0.30 female proportion (95% CI, 0.28–0.32), corresponding to a male:female ratio (M:F) of 2.38:1. This was similar to patients with an identified DCM variant (0.31 [95% CI, 0.26–0.36]; M:F 2.22:1; P =0.56). There was also no significant difference when compared with patients with gene-elusive DCM (0.30 [95% CI, 0.24–0.37]; M:F 2.29:1; P =0.81). Furthermore, the ratio within autosomal dominant gene variants was not significantly different for TTN (0.28 [95% CI, 0.22–0.36]; M:F 2.51:1; P =0.82) or LMNA (0.35 [95% CI, 0.27–0.44]; M:F 1.84:1; P =0.41). Overall, the sex ratio for DCM in people with disease attributed to autosomal dominant gene variants was similar to the all-cause group (0.34 [95% CI, 0.28–0.40]; M:F 1.98:1; P =0.19). In the UK Biobank (n=47 549), DCM defined by International Classification of Diseases, 10th revision, coding had 4.5:1 M:F. However, implementing sex-specific imaging-first and genotype-first diagnostic approaches changed this to 1.7:1 and 2.3:1, respectively. CONCLUSIONS: This study demonstrates that DCM is twice as prevalent in male patients. This was partially mitigated by implementing sex-specific DCM diagnostic criteria. The persistent male excess in genotype-positive patients with an equally prevalent genetic risk suggests additional genetic or environmental drivers for sex-biased penetrance. REGISTRATION: URL: https://www.crd.york.ac.uk/prospero ; Unique identifier: CRD42023451944.
An evolutionary tale on clinical trials in hidradenitis suppurativa
Authors: Christopher J Sayed, Rayad B Shams, Bria Midgette, Amit Garg
Journal: British Journal of Dermatology (2025)

Abstract The therapeutic pipeline for moderate-to-severe hidradenitis suppurativa (HS) is robust. Successes and lessons learned have led to improvements in trial designs aimed at avoiding prior pitfalls, as well as high placebo response in HS, which remains a fundamental threat to drug development. Herein, we review the evolutions in HS trials over the last 20 years with respect to overall design, sample size, diversity in enrolment, inclusion criteria, concomitant medications, rescue therapy, endpoints and statistical design analysis plans. Areas of focus that merit future consideration are also highlighted.
Fine-scale population structure and widespread conservation of genetic effect sizes between human groups across traits
Authors: Sile Hu, Lino A. F. Ferreira, Sinan Shi, Garrett Hellenthal, Jonathan Marchini, Daniel J. Lawson, Simon R. Myers
Journal: Nature Genetics (2025)

Abstract Understanding genetic differences between populations is essential for avoiding confounding in genome-wide association studies and improving polygenic score (PGS) portability. We developed a statistical pipeline to infer fine-scale Ancestry Components and applied it to UK Biobank data. Ancestry Components identify population structure not captured by widely used principal components, improving stratification correction for geographically correlated traits. To estimate the similarity of genetic effect sizes between groups, we developed ANCHOR, which estimates changes in the predictive power of an existing PGS in distinct local ancestry segments. ANCHOR infers highly similar (estimated correlation 0.98 ± 0.07) effect sizes between UK Biobank participants of African and European ancestry for 47 of 53 quantitative phenotypes, suggesting that gene–environment and gene–gene interactions do not play major roles in poor cross-ancestry PGS transferability for these traits in the United Kingdom, and providing optimism that shared causal mutations operate similarly in different populations.
Clinical applications of human organoids
Authors: Monique M A Verstegen, Rob P Coppes, Anne Beghin, Paolo De Coppi, Mattia F M Gerli, Nienke de Graeff, Qiuwei Pan, Yoshimasa Saito, Shaojun Shi, Amir A Zadpoor, Luc J W van der Laan
Journal: Nature Medicine (2025)
Leveraging genotypes and phenotypes to implement precision medicine in hidradenitis suppurativa management
Authors: Lynn Petukhova, Annelise Colvin, Nicole D K Koerts, Barbara Horváth
Journal: British Journal of Dermatology (2025)

Abstract Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition with many unmet needs. It is characterized by significant clinical heterogeneity, which suggests that a diagnosis of HS captures multiple distinct disease entities and that research aimed at identifying medically relevant HS subtypes will improve its management. Precision medicine is an approach to disease management that uses information encoded in a patient’s genome, and operationalized in clinical presentations and drug responses, to identify disease subtypes. Prior research aimed at identifying HS subtypes has largely focused on phenotypic classifications derived from clinical features of cutaneous lesions. Limitations of existing HS taxonomies emphasize a need for a more nuanced understanding of disease subtypes. Evidence that has emerged from initial genetic studies of HS suggests the presence of at least three HS subtypes, each of which has different clinical implications in terms of disease risks and drug responses. These preliminary findings are instructive in terms of expanding our definitions of HS phenotypes to not only include characteristics of skin lesions, but also disease comorbidities and molecular and cellular phenotypes. Here we provide a comprehensive review of HS phenotype and genotype knowledge, and propose a strategic framework for implementing precision medicine in HS management. Future research should focus on expanding phenotype assessments to include data on multiple scales. Iterative research designs performed with phenotype and genotype data from large diverse cohorts are needed to rigorously define clinically relevant HS subtypes.
The paradox of prosperity and poverty: confronting inequality in Norway
Authors: None The Lancet Regional Health – Europe
Journal: The Lancet Regional Health - Europe (2025)

Norway is celebrated worldwide for its wealth, exceptional living standards, and robust welfare system. With a gross domestic product per capita far surpassing the Organisation for Economic Co-operation and Development (OECD) average and a consistent spot as one of the top ten countries in the World Happiness Report, Norway epitomises prosperity and wellbeing. Yet, despite its characteristic egalitarianism, a widening socioeconomic gradient threatens to deepen health inequalities. Notably, although Norway ranked first in the World Happiness Report in 2017, its position has since steadily declined, settling at seventh since 2023—a trend that warrants reflection on the factors shaping national wellbeing.
Genomic signatures of adaptation to stress reveal shared evolutionary trends between Tetrahymena utriculariae and its algal endosymbiont, Micractinium tetrahymenae
Authors: Joseph B Kelly, David E Carlson, Manuela Reuter, Annette Sommershof, Lubomír Adamec, Lutz Becks
Journal: Molecular Biology and Evolution (2025)

The evolution of intracellular endosymbiosis marks a major transition in the biology of the host and endosymbiont. Yet, how adaptation manifests in the genomes of the participants remains relatively understudied. We investigated this question by sequencing the genomes of Tetrahymena utriculariae, a commensal of the aquatic carnivorous bladderwort Utricularia reflexa, and its intracellular algae, Micractinium tetrahymenae. We discovered an expansion in copy number and negative selection in a TLD domain-bearing gene family in the genome of T. utriculariae, identifying it as a candidate for being an adaptive response to oxidative stress resulting from the physiology of its endosymbionts. We found that the M. tetrahymenae genome is larger than those of other Micractinium and Chlorella and contains a greater number of rapidly expanding orthogroups. These were enriched for Gene Ontology terms relevant to the regulation of intracellular signal transduction and cellular responses to stress and stimulus. Single-exon tandem repeats were overrepresented in paralogs belonging to these rapidly expanding orthogroups, which implicates long terminal repeat retrotransposons (LTRs) as potential agents of adaptation. We additionally performed a comparative transcriptomic analysis of M. tetrahymenae in a free-living state and in endosymbiosis with T. utriculariae and discovered that the genes that are differentially expressed were enriched for pathways that evidence shifts in energy generation and storage and in cellular protection strategies. Together, our results elucidate the axes along which the participants must adapt in this young endosymbiosis and highlight evolutionary responses to stress as a shared trend.
New Advances in Periodontal Functional Materials Based on Antibacterial, Anti‐Inflammatory, and Tissue Regeneration Strategies
Authors: Haoyue Wu, Yuanfeng Li, Linqi Shi, Yong Liu, Jing Shen
Journal: Advanced Healthcare Materials (2025)

With the global population aging, awareness of oral health is rising. Periodontitis, a widespread bacterial infectious disease, is gaining attention. Current novel biomaterials address key clinical issues like bacterial infection, gum inflammation, tooth loosening, and loss, focusing on antibacterial, anti-inflammatory, and tissue regeneration properties. However, strategies that integrate the advantages of these biomaterials to achieve synergistic therapeutic effects by clearing oral biofilms, inhibiting inflammation activation, and restoring periodontal soft and hard tissue functions remain very limited. Recent studies highlight the link between periodontitis and systemic diseases, underscoring the complexity of the periodontal disease. There is an urgent need to find comprehensive treatment plans that address clinical requirements. Whether by integrating new biomaterials to enhance existing periodontal treatments or by developing novel approaches to replace traditional therapies, these efforts will drive advancements in periodontitis treatment. Therefore, this review compares novel biomaterials with traditional treatments. It highlights the design concepts and mechanisms of these functional materials, focusing on their antibacterial, anti-inflammatory, and tissue regeneration properties, and discusses the importance of developing comprehensive treatment strategies. This review aims to provide guidance for emerging periodontitis research and to promote the development of precise and efficient treatment strategies.
<scp>SLAMF4</scp> orchestrates the cytotoxic response of <scp>CD4</scp><sup>+</sup> T cells in rheumatoid arthritis
Authors: Mégane Lacaud, Houda‐Ghozlane Bouzidi, Mylène Petit, Magali Breckler, Delphine Lemeiter, Johanna Sigaux, Elodie Rivière, Luca Semerano, Marie‐Christophe Boissier, Natacha Bessis, Jérôme Biton
Journal: Arthritis & Rheumatology (2025)

Objective This study aimed to assess whether signaling lymphocytic activation molecule family receptors (SLAMFs) are involved in the shaping of the pathological response of CD4 + T cells in rheumatoid arthritis (RA). Methods Peripheral blood (PB) and synovial fluid (SF) mononuclear cells from RA patients were freshly isolated. In RA, we used a multi‐modal approach to determine the involvement of numerous subpopulations of CD4 + T cells expressing SLAMFs. Experimentally, multiple flow cytometry panels, RNA sequencing and ex vivo stimulations were used. Analyses involved high‐dimensional unsupervised clustering of flow cytometry data and pathway enrichment analyses of transcriptomic data. Results In PB of RA patients with active disease, SLAMF4 + effector memory T cells (Tem) represented the only overrepresented subpopulation of CD4 + T cells expressing SLAMFs. This positive correlation between RA activity and SLAMF4 + Tem was restricted to those co‐expressing the intracellular molecule SAP and the tissue‐homing receptor CCR5. Gene Set Enrichment Analysis of RNA‐sequencing data reveals that SLAMF4 + CCR5 + Tem display a cytotoxicity‐related gene signature. Moreover, based on the differential expression of cytotoxicity markers (GPR56, CX3CR1, granzyme‐B, perforin and granulysin), unsupervised clustering of flow cytometry data identified distinct subpopulations of PB cytotoxic Tem. Among them, only SLAMF4 high SAP + CCR5 + Tem (Cytotox‐F4 high Tem) were correlated with RA activity. Remarkably, Cytotox‐F4 high Tem emerged as the only cytotoxic population of CD4 + T cells (CD4 + CTLs) present in SF of patients with active disease. Conclusions This study emphasizes that Cytotox‐F4 high Tem represent a significant CD4 + CTL subpopulation involved in RA, suggesting that their inhibition represent a promising therapeutic interest.
Circular RNAs in cancer
Authors: Yang Guo, Qiang Huang, Yu Heng, Yujuan Zhou, Hui Chen, Chengzhi Xu, Chunping Wu, Lei Tao, Liang Zhou
Journal: MedComm (2025)

Abstract Circular RNA (circRNA), a subtype of noncoding RNA, has emerged as a significant focus in RNA research due to its distinctive covalently closed loop structure. CircRNAs play pivotal roles in diverse physiological and pathological processes, functioning through mechanisms such as miRNAs or proteins sponging, regulation of splicing and gene expression, and serving as translation templates, particularly in the context of various cancers. The hallmarks of cancer comprise functional capabilities acquired during carcinogenesis and tumor progression, providing a conceptual framework that elucidates the nature of the malignant transformation. Although numerous studies have elucidated the role of circRNAs in the hallmarks of cancers, their functions in the development of chemoradiotherapy resistance remain unexplored and the clinical applications of circRNA‐based translational therapeutics are still in their infancy. This review provides a comprehensive overview of circRNAs, covering their biogenesis, unique characteristics, functions, and turnover mechanisms. We also summarize the involvement of circRNAs in cancer hallmarks and their clinical relevance as biomarkers and therapeutic targets, especially in thyroid cancer (TC). Considering the potential of circRNAs as biomarkers and the fascination of circRNA‐based therapeutics, the “Ying‐Yang” dynamic regulations of circRNAs in TC warrant vastly dedicated investigations.
FDG PET/CT in 2 Cases of Primary Urothelial Carcinoma of the Prostate
Authors: Xiaojun Man, Xiandong Song, Aisheng Dong
Journal: Clinical Nuclear Medicine (2025)

Abstract Primary prostatic urothelial carcinoma is a very rare aggressive tumor with poor prognosis. We describe FDG PET/CT findings in 2 patients with primary prostatic urothelial carcinoma. In 1 patient, FDG PET/CT showed intense activity of the prostate tumor with extraprostatic invasion. In the other patient, FDG PET/CT showed heterogeneous intense activity of the primary tumor and multiple hypermetabolic metastases in the regional lymph nodes, bone, and lung. Both patients had normal serum total prostate-specific antigen levels. These cases highlight the usefulness of FDG PET/CT in detecting and staging of primary prostatic urothelial carcinoma due to high FDG avidity.
A Case of McCune Albright Syndrome With Rare Extensive Polyostotic Fibrous Dysplasia
Authors: Harinee Ganesan, Vasanth Madivanane, Kabilash Dhayalane, Ragire Sainath, Harish Goyal
Journal: Clinical Nuclear Medicine (2025)

Abstract McCune-Albright syndrome is characterized by a triad of café au lait macules, polyostotic fibrous dysplasia (FD), and endocrine abnormalities. Bilateral and extensive presentation of FD is rarely reported. We report an interesting case of 24-year-old woman presenting with multiple episodes of slip and fall, sustaining multiple fractures with history of precocious puberty and skin complaints. On evaluation with 99m Tc-MDP bone scan, all the long bones, ribs, pelvic bones, frontal bone, and maxilla showed deformities and increased osteoblastic activity, suggesting extensive polyostotic FD. Thus emphasizing the crucial role of 99m Tc-MDP bone scan in the diagnosis of extensive FD and guides in understanding of the polyostotic involvement.
Detection of the Cingulate Island Sign by Early Perfusion Imaging in Dopamine Transporter SPECT With Multiple-Pinhole Collimators
Authors: Amir Karimzadeh, Anne Burkhardt, Susanne Klutmann, Ivayla Apostolova, Ralph Buchert
Journal: Clinical Nuclear Medicine (2025)

Abstract Multiple-pinhole collimators provide considerable improvement of SPECT system count sensitivity. This case report suggests that SPECT with brain-specific multiple-pinhole collimators enables cerebral perfusion imaging with diagnostic quality by an early 12 minutes scan immediately after injection of a standard dose of the dopamine transporter ligand 123 I-FP-CIT. Thus, 123 I-FP-CIT SPECT with multiple-pinhole collimators could assess nigrostriatal degeneration (late image) and extrastriatal involvement (early perfusion image) during the same imaging session. The early image may serve as an alternative to FDG PET in patients with suspicion of an atypical neurodegenerative parkinsonian syndrome. This could streamline diagnostic workflows by reducing the need for additional imaging modalities.
Peritoneal Scintigraphy Identified the Reason for Scrotal Edema in a Patient Undergoing Peritoneal Dialysis
Authors: Hui Sun, Suyun Chen, Weiwei Cheng
Journal: Clinical Nuclear Medicine (2025)

Abstract Scrotal edema is a complication in continuous ambulatory peritoneal dialysis patients, and its etiology can be challenging to determine. We performed peritoneal scintigraphy in a case of a patient who developed pronounced scrotal edema following peritoneal dialysis. The imaging revealed clear visualization of the right inguinal canal and right scrotum, suggesting the usefulness of peritoneal scintigraphy in identifying the etiology of scrotal edema in continuous ambulatory peritoneal dialysis patients.
Policies and Regulations Regarding Adolescent Marijuana Use
Authors: Ling Zhang, Jun Li, Yaling Li
Journal: JAMA Pediatrics (2025)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Pediatrics HomeNew OnlineCurrent IssueFor Authors Podcast JAMA+ AI Journals JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2025 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Pediatrics journal
Nonpharmacologic and Pharmacologic Treatments of Adults in the Acute Phase of Major Depressive Disorder: A Living Clinical Guideline From the American College of Physicians (Version 1, Update Alert 2, Surveillance Note 1)
Authors: Amir Qaseem, Douglas K. Owens, Itziar Etxeandia-Ikobaltzeta, J. Thomas Cross, Jennifer Yost, Carolyn J. Crandall, Carolyn J. Crandall, Lauri A. Hicks, Lauri A. Hicks, Ethan M. Balk, Ethan M. Balk, Thomas G. Cooney, Thomas G. Cooney, J. Thomas Cross, Nick Fitterman, Nick Fitterman, Johanna Lewis, Johanna Lewis, Amy M. Linsky, Amy M. Linsky, Michael Maroto, Michael Maroto, Matthew C. Miller, Matthew C. Miller, Adam J. Obley, Adam J. Obley, Douglas K. Owens, Paul G. Shekelle, Paul G. Shekelle, Jeffrey A. Tice, Jeffrey A. Tice, Itziar Etxeandia-Ikobaltzeta, Curtis S. Harrod, Curtis S. Harrod, Amir Qaseem, Jennifer Yost
Journal: Annals of Internal Medicine (2025)
Patients’ Values and Preferences Regarding Pharmacologic Treatments for the Prevention of Episodic Migraine Headache
Authors: Bada Yang, Robin W.M. Vernooij, Demy L. Idema, Linde Huis in ‘t Veld, Mike P.T. Kusters, Rene Spijker, Kim van der Braak, Pauline Heus, Kevin Jenniskens, Lotty Hooft, Johanna A.A. Damen
Journal: Annals of Internal Medicine (2025)

Decision making regarding pharmacologic treatments for the prevention of episodic migraine may depend on the importance that patients place on outcomes and specific treatment preferences. To assess patients' values and preferences regarding pharmacologic treatments for the prevention of episodic migraine. MEDLINE and CINAHL from inception to April 2024. Quantitative studies reporting on values and preferences regarding pharmacologic treatments for the prevention of migraine in adults were eligible. We extracted data on study design, participants, and findings and assessed risk of bias using a tool developed by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) working group. We included 6 studies (5 discrete choice experiments and 1 survey) comprising a total of 2307 participants and assessing the importance of a total of 32 attributes. Risk of bias was moderate in 3 and low in 3 studies; all but 1 were industry spon sored. Migraine severity, frequency, and duration were found to be the most important among several outcomes including acute medication need and side effects (low certainty). Other outcomes of importance were migraine attack on day 1 postdosing (moderate certainty) and duration of daily activity limitations (high certainty). Patients preferred oral tablets to injections and infusions (moderate certainty). Importance of attributes relative to each other could not be assessed due to the scarcity of direct comparisons. Participant sampling was unclearly reported in most studies. Patients may have the strongest preference for oral treatments that reduce the severity, frequency, and duration of their migraine attacks, which reduce the duration of daily activity limitations and reduce risk of migraine on day 1. Side effects may be less important. American College of Physicians. (PROSPERO: CRD42023414305).