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Mayo Clinic

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Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities
Moyer, Ann M. , Black, John L.

Annals of Laboratory Medicine | April 2, 2025 | Volume: 45 | Issue: 3 | Pages: 247-258

10.3343/alm.2024.0652 | PMID 40170583 Get It

Digital Health Intervention to Promote Lifelong Specialized Care in Adults with Congenital Heart Disease: Study Design
Agarwal, Anushree , Valente, J. , Buernostro, Karina, Macholl, Katelyn , Mehta, J. L., Reddy, Keerthana , Manayan, Karina , Parang, Kim , Sparks, Aleah , Li, Kunyi , Ahuja, Pranav , Sun, Kevin , Payton, Kimberly , Norris, Mark D. , Moons, Philip , Okumura, Megumi J. , Marcus, Gregory M. , Gurvitz, Michelle , Bravo-Jaimes, Katia , Marcus, Gregory M , Valente, Joseph, Buenrostro, Karina , Mehta, Juhi, Bravo‐Jaimes, Katia , Reardon, Leigh Christopher

No container title available | April 2, 2025 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1101/2025.03.31.25324723 | PMID 40236434 Get It

Abstract Background Adults with congenital heart disease (ACHD) frequently experience gaps in lifelong ACHD specialty care, leading to preventable complications, hospitalizations, and premature mortality. However, effective, scalable, accessible, and sustainable strategies to reduce these gaps are lacking. Digital health offers potential solutions but requires a rigorous scientific approach in its design to address the needs of the target population. Objective To describe the development of a theory-based, community co-designed digital health intervention to improve lifelong ACHD care. Methods We integrated theory-based behavioral frameworks, semi-structured qualitative interviews with patients and clinicians, and a community-engaged approach to develop a digital health intervention for ACHD. The primary behavioral target was completing an ACHD specialist appointment. We conducted Capability, Opportunity, Motivation, and Behavior (COM-B)-guided semi-structured interviews with ACHD patients and clinicians to identify barriers to specialized care amenable to a digital intervention and patient-centered goals for the digital tool. The community partners helped develop key intervention objectives, create a theory-driven framework, and specify how each intervention component targets specific COM-B barriers. Results We interviewed 54 participants (37 ACHD patients and 17 clinicians) and engaged 21 community partners representing 4 advocacy organizations. Design objectives emphasized addressing patient loneliness, ensuring accessibility and credibility, and enabling scalability while centering patient perspectives. Participants identified four priorities: providing credible resources, uplifting patient voices, customizing to patient needs, and centering positivity and joy. The digital tool, named by community partners as Empower My Congenital Heart (EMCH), was designed within the web- and mobile-based, Apple- and Android-compatible, Eureka Digital Research platform (University of California, San Francisco). Key intervention components included educational modules, peer support, appointment planning nudges, and a digital medical passport. The EMCH’s theory-driven framework specifies how each intervention component targets specific COM-B barriers to specialized ACHD care. Conclusions The theory-driven, community co-designed EMCH digital tool is a rapidly scalable approach to improve guideline-recommended specialized ACHD care. Future studies will evaluate the acceptability, feasibility, effectiveness, and implementation outcomes to provide insight into a novel tool to reduce preventable morbidity and mortality in ACHD. Trial Registration The National Clinical Trial number for this study is NCT06581484 .
11-Year-Old Boy With B-ALL–Induced Hypereosinophilic Syndrome Presenting as Acute Encephalopathy
Loveday, Tristan , Hora, C., Wells, Rudolph, Chorny, Lauren , Bansal, Manisha , da Hora, Cintia, McLendon, Loren , Chorny, Lauren E , Hora, Cintia da, Wells, Rudolph, Bansal, Manisha, Bradfield, Scott M.

Pediatrics | April 2, 2025 | Volume: 155 | Issue: 5 | Pages: No page available

10.1542/peds.2024-068064 | PMID 40169155 Get It

Encephalopathy is a disturbance in neurologic function. It is commonly attributed to infectious and inflammatory etiologies but encompasses a wide differential. Hypereosinophilic syndrome (HES) is a rare cause of encephalopathy that is associated with underlying infection or malignancy. We present a pediatric patient who experienced several days of worsening encephalopathy and neurological deterioration associated with influenza B infection and hypereosinophilia. A thorough workup ultimately revealed a diagnosis of HES secondary to B cell acute lymphoblastic leukemia (B-ALL). This case exemplifies the importance of maintaining a broad approach to the diagnostic evaluation, treatment, and management of encephalopathy.
MRI Findings of Facet Joint Septic Arthritis
Weger, Kendal L. , Mark, Ian T. , Gallagher, Clare, Johnson-Tesch, Ben A. , Mark, Ian , Gallagher, Clare, Hoxworth, Joseph M. , Tande, Aaron J. , Carr, Carrie M.

Clinical Neuroimaging | April 1, 2025 | Volume: 2 | Issue: 1 | Pages: No page available

10.1002/neo2.70015 Get It

ABSTRACT Background Facet Joint Septic Arthritis (FJSA) is an infection of the spinal facet joints, for which previously described imaging findings are non‐specific. We present MRI findings of 20 patients who underwent facet biopsy for possible FJSA. Materials and Methods An internal database was reviewed for cases who underwent image‐guided spinal facet biopsy for possible infection and had pre‐biopsy contrast‐enhanced MRI. Cases were categorized as biopsy FJSA positive or negative and MRI was reviewed for synovitis, bone marrow enhancement, epidural phlegmon/abscess, and paraspinal muscle enhancement. The MRI findings were considered extensive if the involvement of the posterior paraspinal muscles spanned at least two vertebral bodies in the craniocaudal direction and at least half the length of the muscles in the anterior‐posterior direction. Results Twenty patients were included. Nine patients were FJSA positive, all of whom had synovitis, bone marrow enhancement of the facet joints, and epidural phlegmon. No patients had epidural abscess, but five patients had a paraspinal abscess. All nine patients demonstrated extensive paraspinal muscular enhancement. Eleven biopsy cases that were negative for FSJA were included. Their MRI findings demonstrated all with synovitis, six with bone marrow enhancement of the facet joints, six with epidural phlegmon, none with epidural abscess, and none with paraspinal abscess. Only one FJSA negative case had extensive paraspinal muscle enhancement. Conclusion The MRI appearance of FJSA has rarely been described in the literature; however, the diagnosis has a significant clinical impact. Facet enhancement with florid posterior paraspinal muscle enhancement should raise suspicion for FSJA.
The Impact of Hydrostatic Pressure on Fractional Flow Reserve in Saphenous Vein Grafts
Hoek, Roel , Porouchani, Sina , Winter, Ruben W. de , Somsen, Yvemarie , Diemen, Pepijn A. van , Wilgenhof, Adriaan , Verouden, Niels , Danad, Ibrahim , Nap, A , Knaapen, Paul , de Winter, Ruben W , Somsen, Yvemarie B O , van Diemen, Pepijn A , Wilgenhof, Adriaan , Planken, Nils R, Knaapen, Paul , Jukema, Ruurt , Twisk, Jos W. R. , Hartog, Alexander W. den , Planken, R. Nils , Nap, Alexander

Catheterization and Cardiovascular Interventions | April 1, 2025 | Volume: 106 | Issue: 1 | Pages: 80-89

10.1002/ccd.31509 | PMID 40165396 Get It

ABSTRACT Background The relationship between height differences related to graft anatomy and physiological pressure indices in coronary bypass grafts has not been studied. We sought to study the impact of hydrostatic pressure on fractional flow reserve (FFR) in saphenous vein grafts (SVGs). Methods Included were 66 symptomatic patients (76 SVGs) with prior coronary artery bypass grafting who underwent coronary computed tomography angiography (CCTA) preceding invasive coronary angiography with FFR interrogation of ≥ 1 SVGs. The graft course and height excursion were reconstructed based on CCTA images. The impact of hydrostatic pressure on FFR (corrected FFR) was calculated by adding or subtracting 0.077 mmHg to the distal coronary pressure for every millimeter height difference in a supine position between the SVG ostium and the pressure wire tip position. Results The height difference (mm) between the SVG ostium and pressure wire tip position was largest for single SVGs to the circumflex artery (Cx; −55.1 ± 17.0), followed by sequential SVGs to the Cx (−51.8 ± 17.3) and the right coronary artery (RCA; −36.7 ± 21.6). The correlation between height difference and uncorrected FFR was −0.59 ( p < 0.001). Corrected FFR was lower as compared to uncorrected FFR in the overall cohort (0.86 ± 0.17 vs. 0.88 ± 0.18), in single SVGs to Cx (0.85 ± 0.17 vs. 0.90 ± 0.18), and in sequential SVGs to Cx (0.92 ± 0.14 vs. 0.96 ± 0.15) and RCA (0.82 ± 0.17 vs. 0.85 ± 0.21) ( p < 0.001 for all). Conclusions Hydrostatic pressure related to height differences along the course anatomy of SVGs can impact FFR measurements, with corrected FFR being significantly lower in SVGs to the Cx and sequential SVGs to the RCA.
Baby steps to mastery: building blocks for novices in pediatric regional anesthesia
Hagen, John G. , Kattail, Deepa , Barnett, Natalie , Dingeman, R. Scott, Hoffmann, Cassandra , Nichols, Michele , Stengel, Angela D , Tafoya, Sampaguita , Ecoffey, Claude , Ivani, Giorgio , Kundu, Tripali, Pearson, Annabel, Wilder, Robert T., Banik, Debabrata, Bouarroudj, Noreddine , Chooi, Cheryl , Dave, Nandini , Gurumoorthi, Palanichamy , Handlogten, Kathryn S. , Heschl, Stefan , Koziol, James A. , Maniar, Amjad , Osazuwa, Maryrose , Ponde, Vrushali , Turbitt, Lloyd , Lönnqvist, Per-Arne , Wilder, Robert, Bouarroudj, Noreddine , Chooi, Cheryl S L , Dave, Nandini , Handlogten, Kathryn , Heschl, Stefan , Koziol, James , Kynes, J Matthew , Maniar, Amjad , Tsui, Ban C H , Stengel, Angela , Hagen, John G , Barnett, Natalie , Lopez, Gabriela, Tsui, Ban C. H. , Suresh, Santhanam

Regional Anesthesia & Pain Medicine | April 1, 2025 | Volume: 51 | Issue: 7 | Pages: 813-822

10.1136/rapm-2025-106434 | PMID 40169358 Get It

Pediatric regional anesthesia offers significant benefits, yet its adoption faces barriers, including perceived overcomplexity. This study aimed to identify and establish a set of core, high-value, low-complexity nerve blocks to improve perioperative pain management in pediatric patients. A four-round modified Delphi consensus study was conducted with an international panel of pediatric and regional anesthesia experts. An initial long list of regional techniques was compiled by the Steering Committee and refined through iterative input. Panelists rated each technique on a 10-point Likert scale for importance. Consensus was defined as ≥75% of panelists assigning a mean importance score of ≥8. Techniques receiving 50%–74% agreement were categorized as having strong agreement and considered for inclusion. The final selection was confirmed through a virtual roundtable discussion. Thirty-three experts representing 12 pediatric and regional societies participated. Consensus was reached on six regional techniques, with strong agreement (*) on two additional techniques, identifying eight core pediatric regional anesthesia blocks: supraclavicular brachial plexus block, rectus sheath block, transverse abdominis plane block*, suprainguinal fascia iliaca block*, femoral nerve block, adductor canal block, popliteal sciatic nerve block, and landmark-based caudal block. This consensus-driven framework defines a core set of pediatric regional anesthesia techniques that balance clinical effectiveness, feasibility, and accessibility. These findings provide a practical entry point for practitioners looking to incorporate pediatric regional anesthesia into their practice, regardless of prior experience. Future efforts should focus on standardized training, implementation research, and policy initiatives to support widespread adoption and improve perioperative pain management in children globally.
Refining, not redefining: a reaffirmation of chronic painful CIPN prevalence estimates
D’Souza, Ryan S. , Her, Yeng F , Hussain, Nasir , D'Souza, Ryan S

Regional Anesthesia & Pain Medicine | April 1, 2025 | Volume: No volume available | Issue: No issue available | Pages: rapm-2025-106633

10.1136/rapm-2025-106633 | PMID 40169360 Get It

Treat-to-target of endoscopic remission in patients with inflammatory bowel disease in symptomatic remission on advanced therapies (QUOTIENT): rationale, design and protocol for an open-label, multicentre, pragmatic, randomised controlled trial
Singh, Siddharth , Nguyen, J. , Fudman, David , Gerich, Mark E. , Hudesman, David , McConnell, Ryan , Flynn, Ann D. , Hwang, Caroline, Sprung, Brandon, Gaidos, Jill , Mattar, Mark , Metwally, Mark, Ali, Tauseef , Narula, Neeraj, Rosenfeld, Greg , Cross, Raymond, Gaytán, Josep María, Gurrola, Emily-Sophinie, Patel, Sagar , Melmed, Gil , Weaver, Sarah , Power, Sydney, Jairath, Vipul , Hou, Jason K. , Jairath, Vipul , Jairath, Vipul , Fudman, David I , Hudesman, David , Flynn, Ann D , Sprung, Brandon , Gaidos, Jill K J , Ali, Tauseef , Hoentjen, Frank , Bessissow, Talat , Patel, Sagar , Siegel, Corey A , Zou, Guangyong , Jairath, Vipul , Jairath, V , Jairath, V , Melmed, Gil Y , Nguyen, Jasmine D, Shah, Shiraz Ali , Lukin, Dana J. , Rubin, David T. , Hashash, Jana G. , Ma, C , Narula, Neeraj , Bessissow, Talat , McCurdy, Jeffrey D , Ananthakrishnan, Ashwin N. , Gurrola, Emily-Sophinie, Power, Sydney , Zou, Guangyong

BMJ Open Gastroenterology | April 1, 2025 | Volume: 12 | Issue: 1 | Pages: e001615

10.1136/bmjgast-2024-001615 | PMID 40164445 Get It

Introduction Targeted immunomodulators (eg, advanced therapies) effectively achieve symptomatic remission in patients with inflammatory bowel disease (IBD). However, ~25%–50% of patients with IBD achieving symptomatic remission with an advanced therapy may have continued endoscopically/radiologically active bowel inflammation, and it is uncertain whether changing alternative advanced therapies in asymptomatic patients with IBD will reduce bowel inflammation and achieve durable deep remission. Methods and analysis The QUality Outcomes Treating IBD to Target (QUOTIENT) study is an open-label, multicentre, pragmatic, randomised, controlled trial that aims to compare the efficacy and safety of switching to an alternative advanced therapy targeting endoscopic/radiological remission (treat-to-target) versus continuing the initial, or index, advanced therapy, in asymptomatic patients with IBD with moderate-to-severe endoscopic/radiological bowel inflammation. Enrolment is planned for ~250 participants in Canada/USA, randomised 1:1 to switching to alternative advanced therapy or continuing index advanced therapy, and then followed 104 weeks within routine clinical practice. Patient-reported outcomes measure efficacy and quality of life/treatment burden/safety. Primary endpoint is the time from randomisation to treatment failure. Ethics and dissemination The study is conducted in compliance with the protocol, ICH Good Clinical Practice, applicable regulatory requirements and appropriate review boards/independent ethics committees (approval numbers: Pro00077486; Pro00061437; STUDY00002062; 22-004171; i22-01269; IRB22-0890; IRB_00154397; 2000032384; SHIRB#2022.095-2; STUDY00007146; MMC#2024-18; REB#125290; 17784; Pro00142214; 20240660-01H), with documented written informed consent. Findings will be disseminated through peer-reviewed journals, scientific presentations, and publicly available Patient-Centered Outcomes Research Institute (PCORI) websites, including lay summaries. The Crohn’s & Colitis Foundation Education, Support, and Advocacy Department, and our patient advocacy stakeholder, will develop educational and marketing resources to communicate findings to a broad audience (>250 000 patients/caregivers/healthcare professionals). Trial registration number NCT05230173 .
A Qualitative Study of the Effects of Opioids on Chronic Pain, Function, and Cognition in Community-Dwelling Older Adults
Warner, Nafisseh S. , Finnie, Dawn M., Smith, Jamie, Verdoorn, Brandon P. , Tung, Ericka E. , Griffin, Joan M. , Griffin, Joan M , Warner, Nafisseh , Smith, Jamie L , Warner, David O. , Mielke, Michelle M.

Journal of Applied Gerontology | April 1, 2025 | Volume: 44 | Issue: 12 | Pages: 1939-1949

10.1177/07334648251326347 | PMID 40167777 Get It

Chronic pain is common with aging. Yet, little is known about the attitudes, beliefs, and experiences of older adults with chronic pain regarding opioids, particularly in regard to effects on daily functioning and cognition. This qualitative analysis employed semi-structured interviews in 25 community-dwelling older adults with chronic pain and current or recent prescription opioid use. Interviews focused on perceptions, beliefs, and experiences of living with chronic pain, use of prescription opioids, and the impact of opioids on pain control, cognition, and daily function. Older adults display adaptability and acceptance in living with chronic pain, desire person-centered pain care, approach the risks-benefits of opioids with regards to cognition differently, and perceive stigma as a barrier to effective partnership with clinicians.
Utilizing large language models for gastroenterology research: a conceptual framework
Berry, Parul , Dhanakshirur, Rohan Raju, Khanna, Sahil

Therapeutic Advances in Gastroenterology | April 1, 2025 | Volume: 18 | Issue: No issue available | Pages: No page available

10.1177/17562848251328577 | PMID 40171241 Get It

Large language models (LLMs) transform healthcare by assisting clinicians with decision-making, research, and patient management. In gastroenterology, LLMs have shown potential in clinical decision support, data extraction, and patient education. However, challenges such as bias, hallucinations, integration with clinical workflows, and regulatory compliance must be addressed for safe and effective implementation. This manuscript presents a structured framework for integrating LLMs into gastroenterology, using Hepatitis C treatment as a real-world application. The framework outlines key steps to ensure accuracy, safety, and clinical relevance while mitigating risks associated with artificial intelligence (AI)-driven healthcare tools. The framework includes defining clinical goals, assembling a multidisciplinary team, data collection and preparation, model selection, fine-tuning, calibration, hallucination mitigation, user interface development, integration with electronic health records, real-world validation, and continuous improvement. Retrieval-augmented generation and fine-tuning approaches are evaluated for optimizing model adaptability. Bias detection, reinforcement learning from human feedback, and structured prompt engineering are incorporated to enhance reliability. Ethical and regulatory considerations, including the Health Insurance Portability and Accountability Act, General Data Protection Regulation, and AI-specific guidelines (DECIDE-AI, SPIRIT-AI, CONSORT-AI), are addressed to ensure responsible AI deployment. LLMs have the potential to enhance decision-making, research efficiency, and patient care in gastroenterology, but responsible deployment requires bias mitigation, transparency, and ongoing validation. Future research should focus on multi-institutional validation and AI-assisted clinical trials to establish LLMs as reliable tools in gastroenterology.