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Articles 2491 - 2520 of 321382

Full-Text Articles in Medicine and Health Sciences

Mindfulness To Reduce Psychotropic Prescriptions In Home-Based Elderly Patients, Mojisola Akinola Olusegun Jul 2026

Mindfulness To Reduce Psychotropic Prescriptions In Home-Based Elderly Patients, Mojisola Akinola Olusegun

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Home-based adults aged 65 years and older receiving care at a community behavioral health center exhibited high psychotropic polypharmacy, with over 80% prescribed two or more psychotropic medications, exceeding The Center for Medicare and Medicaid services (CMS) guidance for safe use. This pattern heightened risks for adverse drug events, functional decline, and avoidable healthcare utilization, while exposing a practice gap characterized by underuse of non-pharmacologic interventions.

Aim of the Project: The Doctor of Nursing Practice (DNP) project aimed to determine whether integrating a structured Mindful Breathing and Meditation (MBM) program into routine services could reduce psychotropic medication burden …


Optimizing Daily Central Line Review: A High-Reliability Qi Project, Heather Khan Jul 2026

Optimizing Daily Central Line Review: A High-Reliability Qi Project, Heather Khan

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Prolonged central line use increases the risk of infection. At baseline, central line utilization in a 21-bed medical intensive care unit exceeded organizational goals and the national median. Gaps in the central line review process and variation in staff knowledge contributed to overutilization.

 Aim of the Project: The project team aimed to improve patient outcomes by reducing the central line standardized utilization ratio (SUR) from 0.93 to the national median of 0.79 over 12 weeks.

Review of the Evidence: Evidence supports standardization, use of decision-support tools, measurement, and auditing to reduce central line utilization. Leadership engagement, safety culture, and …


Poor Adherence To Established Clinical Guidelines In Outpatient Bladder Cancer Management, Melanie Boren Jul 2026

Poor Adherence To Established Clinical Guidelines In Outpatient Bladder Cancer Management, Melanie Boren

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: The outpatient urology practice encountered challenges with adherence to Clinical Practice Guidelines (CPGs), primarily due to unfamiliarity and lack of operational accountability. This led to a low adherence rate of only 40% among patients with bladder cancer. Key issues included inadequate training and knowledge gaps regarding CPGs.

Aim of the Project: The project aimed to improve patient care and outcomes in bladder cancer treatment by enhancing patient retention and adherence to treatment protocols. Evidence-based interventions were implemented to optimize care delivery and support adherence to prescribed treatments.

Review of Evidence: A literature review highlights the effectiveness of nurse navigator …


Skin Is In: Promoting Breastfeeding Through Immediate Cesarean Skin-To-Skin, Autumn Spencer Jul 2026

Skin Is In: Promoting Breastfeeding Through Immediate Cesarean Skin-To-Skin, Autumn Spencer

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: The Association of Women’s Health, Obstetric and Neonatal Nurses (AWHONN) and the American College of Obstetricians and Gynecologists identify immediate, uninterrupted skin-to-skin contact as a standard of care that improves neonatal stability, breastfeeding outcomes, and maternal satisfaction. Despite these recommendations, timely initiation following cesarean birth remains inconsistent. At the project site, skin-to-skin initiation averaged 72 minutes after birth, exceeding the 10-minute benchmark, and exclusive breastfeeding rates were below the national standard of 70%. Contributing barriers included workflow variability, unclear role expectations, and inconsistent communication.

Aim of the Project: The aim of the project was to improve infant and maternal …


A Quality Improvement Approach To Reducing Chronic Obstructive Pulmonary Disease Readmissions, Florwisse Rubio Jul 2026

A Quality Improvement Approach To Reducing Chronic Obstructive Pulmonary Disease Readmissions, Florwisse Rubio

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem:

The problem identified at the project site is that care transitions for patients with COPD lack standardized discharge processes, leading to inconsistent education, limited follow-up, and poor coordination of care.

Aim of the Project:

The primary aim was to improve patient outcomes by reducing the 19.6% 30-day readmissions among older adults diagnosed with COPD at the selected project site by implementing a standardized discharge intervention over 12 weeks, measuring progress, and ensuring appropriate workflow. The initiative of this project sought to foster a sense of proper continuity of care through timely follow-up, interprofessional communication among patients and providers, and …


Improving Timely Hospice Pain Reassessments Through A Quality Improvement Initiative, Brianna Strong-Mosley Jul 2026

Improving Timely Hospice Pain Reassessments Through A Quality Improvement Initiative, Brianna Strong-Mosley

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: In a hospice care organization, a practice gap was observed in prompt pain reassessment with an onset or increase of pain, as mandated within a 48-hour timeframe by the Centers for Medicare and Medicaid Services (CMS). Baseline data showed that only 40% of eligible patients with a pain score of ≥ 6 received a documented pain reassessment within 48 hours. Overall patient satisfaction with hospice services was 45%.

Aim of the Project: The quality improvement project aimed to enhance pain management by increasing the percentage of eligible hospice patients with a documented pain score of ≥ 6 from a …


Reducing Emergency Department Boarding Using Pull-Based Throughput Intervention: Quality Improvement Project, Eunice Dundu Jul 2026

Reducing Emergency Department Boarding Using Pull-Based Throughput Intervention: Quality Improvement Project, Eunice Dundu

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Emergency department (ED) boarding increases overcrowding and delays care. A 200-bed acute care hospital in the southeastern United States has a median time from inpatient bed readiness to ED departure that exceeds its hospital benchmarks, resulting in prolonged boarding and delays. Hospital data showed a median bed-ready-to-departure time of 76 minutes, exceeding the target of less than 45 minutes. Workflow analysis identified delays in transport activation, communication, and accountability as major contributors to inefficiency.

Aim of the Project: ED throughput quality improvement project aimed to reduce the median time from when an inpatient bed is marked ready to …


Improving Medication Reconciliation Compliance In Home Health Admissions, Paula A. Petrie-Rivas Jul 2026

Improving Medication Reconciliation Compliance In Home Health Admissions, Paula A. Petrie-Rivas

All Doctor of Nursing Practice (DNP) Scholarly Projects

Background: Clinician compliance with medication reconciliation at a home health agency was below regulatory expectations, with agency performance significantly lower than state and national averages. Workflow inefficiencies, inconsistent clinician practices, and limited training contributed to noncompliance, increasing the risk of medication discrepancies, preventable rehospitalizations, and Medicare reimbursement penalties.

Aim: This quality improvement project implemented a standardized medication reconciliation workflow using the Agency for Healthcare Research and Quality’s MATCH toolkit to improve clinician compliance during admission to home health.

Evidence: Literature supports structured medication reconciliation as an effective strategy to improve safety during transitions of care. The MATCH toolkit provides a …


Utilizing A Multidisciplinary Team Approach To Opioid Stewardship In A Long-Term Acute Care Hospital, Lesley Moore Jul 2026

Utilizing A Multidisciplinary Team Approach To Opioid Stewardship In A Long-Term Acute Care Hospital, Lesley Moore

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem:

The opioid crisis continues to negatively affect patient safety and healthcare outcomes across the United States. Long-term acute care hospitals (LTACHs) care for medically complex patients who often require prolonged pain management and are at increased risk for opioid-related adverse events. At the project site, a 32-bed LTACH, 72% of reviewed patient charts included an opioid prescription upon admission, exceeding recommended prescribing benchmarks and identifying a gap in opioid stewardship practices. The absence of a standardized opioid stewardship program (OSP) and opioid risk screening process increased the risk of opioid misuse, dependency, and adverse patient outcomes.

Aim of the …


Implementing The Walking Impairment Questionnaire For Peripheral Artery Disease Screening And Referral, Lisa Doyle Jul 2026

Implementing The Walking Impairment Questionnaire For Peripheral Artery Disease Screening And Referral, Lisa Doyle

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Peripheral artery disease (PAD) is a leading cause of cardiovascular morbidity, mortality, and lower extremity amputation. At a Level 1 veterans medical center, the absence of a standardized screening and referral process contributed to delayed identification of symptomatic PAD and underutilization of supervised exercise therapy (SET). Between August 2024 and July 2025, only four veterans completed SET despite a large high-risk population, demonstrating a significant gap in evidence-based recommendations and clinical practice.

Aim of the Project: The aim of this project was to improve patient outcomes by standardizing screening for symptomatic PAD using the Walking Impairment Questionnaire (WIQ) to …


Identifying Palliative Care Needs In The Emergency Department, James Sullivan Jul 2026

Identifying Palliative Care Needs In The Emergency Department, James Sullivan

All Doctor of Nursing Practice (DNP) Scholarly Projects

This quality improvement project evaluated the implementation of the Palliative Care and Rapid Emergency Screening (P‑CaRES) tool to improve early identification of unmet palliative care (PC) needs among adults with advanced, life‑limiting illnesses presenting to a community emergency department (ED). The problem addressed was the absence of a standardized PC screening process, resulting in delayed recognition, missed referral opportunities, fragmented care, and repeated ED utilization. Guided by Plan‑Do‑Study‑Act cycles and the OhioHealth Change Management Model, the project integrated P‑CaRES into ED workflows, provided staff education, and established structured referral pathways. Over 12 weeks, clinicians completed 65 screenings; 57 patients met …


Enhancing Medication Timeliness Through Structured Handoff In A Mental Health Facility, Belinda Zinhu Jul 2026

Enhancing Medication Timeliness Through Structured Handoff In A Mental Health Facility, Belinda Zinhu

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Delayed medication administration in an adult inpatient mental health facility exceeded organizational benchmarks and posed risks to patient safety, treatment effectiveness, and continuity of care. Baseline electronic health record (EHR) audits showed that about 30% of scheduled medications were administered outside the organization's acceptable timeframe, and inconsistent nurse shift handoffs contributed to the delays.

Aim of the Project: The aim of the quality improvement project was to improve patient outcomes by implementing the I-PASS standardized handoff communication tool to reduce late medication administration from 30% to 15% within 12 weeks.

Review of the Evidence: Evidence supports structured handoff frameworks …


Tailoring Interventions For Patient Safety Protocol: A Strategy To Prevent Inpatient Falls, Yashu Adhikari Jul 2026

Tailoring Interventions For Patient Safety Protocol: A Strategy To Prevent Inpatient Falls, Yashu Adhikari

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Inpatient falls were a significant safety issue at the project site, substantially affecting patient outcomes and organizational resources. The identified gap was the lack of individualized, patient-centered fall-prevention strategies despite the presence of standard fall-prevention bundles. The baseline fall rate of 6.04 was 20% higher than the national benchmark of three to five falls per 1,000 patient days, indicating a clear need for improvement.

Aim of the Project: The quality improvement (QI) project aimed to improve patient safety by reducing inpatient falls through implementation of the AHRQ Fall Tailoring Interventions for Patient Safety (TIPS) protocol on a …


Standardized Infection Prevention Protocol To Reduce Surgical Site Infections In Pediatric Neurosurgery, Pisey Kareth Jul 2026

Standardized Infection Prevention Protocol To Reduce Surgical Site Infections In Pediatric Neurosurgery, Pisey Kareth

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Surgical site infections (SSIs) are a significant concern in the pediatric neurosurgical patient population and are associated with increased morbidity, longer hospital stays, and increased medical expenses. The absence of a standardized preoperative infection prevention process led to variability in perioperative care practices and infections at the practicum site.

Aim of the Project: The aim of the project was to reduce the incidence of SSIs among pediatric patients undergoing neurosurgical procedures who were initially evaluated in an ambulatory setting.

Review of the Evidence: Evidence supports the implementation of bundled infection prevention strategies as a more effective approach to reducing …


Pressure Injury Prevention Bundle Implementation In An Acute Care Unit, Hannah K. Pobi Jul 2026

Pressure Injury Prevention Bundle Implementation In An Acute Care Unit, Hannah K. Pobi

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Pressure Injuries are quality indicators that reflect the quality of care delivered to patients. With a hospital-acquired pressure injury rate above 12%, the project site exceeded the national benchmark average of 5-8% for acute inpatient settings. The cost of managing hospital acquired pressure injury ranges from $20,900 to $151,700 per patient, compounded by complications in a patient’s treatment plan.

Aim of the Project: To reduce the prevalence of HAPIs in a step-down unit to below 8% by implementing the Pressure Injury Prevention bundle. The PIP bundle, an evidence-based intervention, primarily aimed to educate the nursing team on its …


Fall Tailoring Interventions For Patient Safety: A Program Evaluation, Shirley Morrison Jul 2026

Fall Tailoring Interventions For Patient Safety: A Program Evaluation, Shirley Morrison

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Falls with injury rates had increased for over two years at the project hospital until nurse leaders implemented a new fall-prevention intervention. Patient falls are the most common preventable adverse event in acute care hospitals, with approximately 700,000 to 1 million occurring annually in the United States. Before implementing the Fall Tailoring Interventions for Patient Safety (TIPS) toolkit, the hospital’s program lacked an evidence-based approach and a fall communication board to alert staff, patients, and families about the individual fall risk status, leaving a significant gap in patient-centered care.

Aim of the Project: The aim of the project was …


Reducing Catheter-Associated Urinary Tract Infections In Progressive Care, Kelli S. Bylsma Jul 2026

Reducing Catheter-Associated Urinary Tract Infections In Progressive Care, Kelli S. Bylsma

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem: Catheter-associated urinary tract infections (CAUTI) harm patients and increase healthcare costs. In fiscal year 2025, the progressive care unit reported a CAUTI rate 2.5 times the National Healthcare Safety Network benchmark of 1.0 infection per 1,000 catheter days. A gap analysis revealed that the project site lacked a policy mandating chlorhexidine baths for catheterized patients, resulting in suboptimal catheter hygiene and ineffective bactericidal intervention.

Aim of the Project: The aim of the quality improvement project was to reduce CAUTI rates by 50% through daily chlorhexidine baths for catheterized patients in the progressive care unit.

Review of the Evidence: Recent …


Board Exam Preparation Resource Trends In Academic Health Sciences Libraries Serving Colleges Of Osteopathic Medicine Programs., Joanne Muellenbach, Kyle Robinson, Hsin-Liang (Oliver) Chen, Harold S Bright, Lori Fitterling Jul 2026

Board Exam Preparation Resource Trends In Academic Health Sciences Libraries Serving Colleges Of Osteopathic Medicine Programs., Joanne Muellenbach, Kyle Robinson, Hsin-Liang (Oliver) Chen, Harold S Bright, Lori Fitterling

PCOM Scholarly Works

BACKGROUND: The study seeks to identify the board exam preparation (prep) resources made available to medical students by academic health sciences libraries and other departments within U.S. colleges of osteopathic medicine (COM) programs, and the extent to which these resources are utilized by medical students and educators.

METHODS: The study was conducted in two phases. In phase one, forty-two COM library directors were invited to complete a survey regarding their usage, funding, and access models for available board prep resources. In phase two, semi-structured interviews were conducted via Zoom to explore the library's role in providing access to these resources. …


Neuromuscular Junction Dysfunction In A Subset Of Charcot-Marie Tooth And Related Peripheral Neuropathies Mouse Models, Jonathan R. Funke, Celeste Martinez, Samia L. Pratt, Alaura D. Rice, Abigail L.D. Tadenev, Robert W. Burgess Jul 2026

Neuromuscular Junction Dysfunction In A Subset Of Charcot-Marie Tooth And Related Peripheral Neuropathies Mouse Models, Jonathan R. Funke, Celeste Martinez, Samia L. Pratt, Alaura D. Rice, Abigail L.D. Tadenev, Robert W. Burgess

Health & Biomedical Sciences Faculty Publications

Charcot-Marie Tooth (CMT) disease is a clinically and genetically heterogeneous inherited peripheral neuropathy for which there is no treatment. CMT patients often present with weakness, fatigue, and muscle atrophy in the distal limbs. Improving function at the neuromuscular junction (NMJ) may improve function in some CMT patients. Using mouse models, we investigated eight CMT subtypes for NMJ phenotypes by morphology and functional deficits assessed by electromyography (EMG). We did not find NMJ abnormalities in mice with mutations in Gjb1Y/Δ2 (CMT1X), or Yars1E196K/E196K (diCMTC). Mice with mutations in Ighmbp2Y918S/Y918S (CMT2S) and Pla2g6M1J/M1J (Infantile Neuroaxonal Dystrophy) have neuromuscular …


Enhancing Validation Of Case-Control Omics Signatures Through "Minimalist" Single-Subject Analysis (N-Of-1 Trials): Proof Of Concept In Sepsis, Liam S Wilson, Nima Pouladi, Rachel F Nelson, Elizabeth A Middleton, Neal D Tolley, Mahdieh Shabanian, Colleen Kenost, Robert A Campbell, Matthew T Rondina, Yves A Lussier Jul 2026

Enhancing Validation Of Case-Control Omics Signatures Through "Minimalist" Single-Subject Analysis (N-Of-1 Trials): Proof Of Concept In Sepsis, Liam S Wilson, Nima Pouladi, Rachel F Nelson, Elizabeth A Middleton, Neal D Tolley, Mahdieh Shabanian, Colleen Kenost, Robert A Campbell, Matthew T Rondina, Yves A Lussier

2020-Current year OA Pubs

OBJECTIVE: To evaluate if a single-subject study (S3) design, utilizing paired transcriptome samples from the same patient (eg, "sepsis" vs "recovered"), can replicate transcriptomic signatures from small case-control studies, addressing challenges in patient accrual for rare or sub-stratified diseases.

METHODS: We generated a sepsis gene signature (SGS) comprising 300 differentially expressed genes (DEGs; FDR <  5%) from a human sepsis case-control cohort using general linear models (GLMs). Reproducibility of SGS was assessed through three approaches applied to sub-sampled independent datasets: single-subject analyses (N-of-1-MixEnrich), anticipated to perform better; conventional paired-sample GLM analyses; and a traditional case-control GLM analysis.

RESULTS: SGS reproducibility in GLM analyses was inconsistent at smaller cohort sizes (∼80% reproducibility; n = 5) but stabilized at cohort sizes >6. Remarkably, the single-subject-study approach consistently reproduced SGS in each of the 18 subjects individually (100% reproducibility; n = 1).

DISCUSSION: Conventional GLMs are …


Incidence And Outcomes Of Treatment-Associated Hepatotoxicity During Pediatric Acute Lymphoblastic Leukemia Induction Therapy: A Reducing Ethnic Disparities In Acute Leukemia (Redial) Consortium Report, Ashley N Chavana, Emily J Mason, John P Woodhouse, Olga A Taylor, Monica M Gramatges, Joanna S Yi, Sandi Pruitt, M Brooke Bernhardt, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Marley Roberts, Rodrigo Erana, Juan Carlos Bernini, Hong Zhu, Philip J Lupo, Karen R Rabin, Michael E Scheurer, Steven D Mittelman, Van Huynh, Etan Orgel, Austin L Brown Jul 2026

Incidence And Outcomes Of Treatment-Associated Hepatotoxicity During Pediatric Acute Lymphoblastic Leukemia Induction Therapy: A Reducing Ethnic Disparities In Acute Leukemia (Redial) Consortium Report, Ashley N Chavana, Emily J Mason, John P Woodhouse, Olga A Taylor, Monica M Gramatges, Joanna S Yi, Sandi Pruitt, M Brooke Bernhardt, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Marley Roberts, Rodrigo Erana, Juan Carlos Bernini, Hong Zhu, Philip J Lupo, Karen R Rabin, Michael E Scheurer, Steven D Mittelman, Van Huynh, Etan Orgel, Austin L Brown

Faculty, Staff and Students Publications

No abstract provided.


Mechanisms Coordinating Exit From The Stem Cell State In Mammals, Emily J Park, Florencia Levin-Ferreyra, Bruno Di Stefano Jul 2026

Mechanisms Coordinating Exit From The Stem Cell State In Mammals, Emily J Park, Florencia Levin-Ferreyra, Bruno Di Stefano

Faculty, Staff and Students Publications

Differentiation requires coordinated exit from the stem cell state, during which gene regulatory networks sustaining self-renewal are dismantled, while lineage-specific programs are activated. This transition is governed by chromatin modifications, transcriptional networks, RNA processing, translational control, and metabolic rewiring that must operate with temporal precision. Despite significant progress in identifying individual regulatory components, understanding how these layers integrate to orchestrate irreversible cell fate commitment remains a fundamental challenge. This review examines common and unique regulatory principles governing stem cell exit, from totipotency during early embryogenesis to tissue-specific stem cell differentiation in adults. We synthesize recent findings on regulatory mechanisms across …


Nuclear-Specific Reductive Carboxylation Of Alpha-Ketoglutarate Fuels Histone Acetylation To Induce Chromatin Accessibility And Gene Activation, Abhisha Sawant Dessai, Nadya A Elhalawany, Tao Dai, Justine J Jacobi, Christian Prechtl, Alphonse N Dimeck, Sierra R Morton, Mark D Long, Prashant K Singh, Nagireddy Putluri, Mariana Lopes, Song Liu, Dominic J Smiraglia, Katerina V Gurova, Peder J Lund, Leah A Gates, Sung Yun Jung, Subhamoy Dasgupta Jul 2026

Nuclear-Specific Reductive Carboxylation Of Alpha-Ketoglutarate Fuels Histone Acetylation To Induce Chromatin Accessibility And Gene Activation, Abhisha Sawant Dessai, Nadya A Elhalawany, Tao Dai, Justine J Jacobi, Christian Prechtl, Alphonse N Dimeck, Sierra R Morton, Mark D Long, Prashant K Singh, Nagireddy Putluri, Mariana Lopes, Song Liu, Dominic J Smiraglia, Katerina V Gurova, Peder J Lund, Leah A Gates, Sung Yun Jung, Subhamoy Dasgupta

Faculty, Staff and Students Publications

Mitochondria remain at the core of cell metabolism, whereas the nucleus integrates cellular and environmental signals to activate genes. However, the mechanisms that directly link cellular metabolism to gene regulation are not well understood. Here we show, a metabolic pathway in the nucleus controls acetylation of histones by nuclear localization of mitochondrial enzymes aconitase (ACO2) and isocitrate dehydrogenase (IDH2). Metabolic tracing studies show that IDH2 and ACO2 catalyze reductive carboxylation of α-ketoglutarate to rapidly synthesize citrate to increase nuclear acetyl-CoA pool. Genetic and proteomic analyses reveal nuclear IDH2 and ACO2 form a complex with KAT2A/GCN5 for acetylation of histones to …


Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira Jul 2026

Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira

Faculty, Staff and Students Publications

More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework …


Author Correction: Plasticity And Language In The Anaesthetized Human Hippocampus, Kalman A Katlowitz, Eric R Cole, Elizabeth A Mickiewicz, Shraddha Shah, Melissa Franch, Joshua A Adkinson, James L Belanger, Raissa K Mathura, Domokos Meszéna, Matthew Mcginley, William Muñoz, Garrett P Banks, Sydney S Cash, Chih-Wei Hsu, Angelique C Paulk, Nicole R Provenza, Andrew J Watrous, Ziv Williams, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Sarah R Heilbronner, Robert Kim, Nuttida Rungratsameetaweemana, Benjamin Y Hayden, Sameer A Sheth Jul 2026

Author Correction: Plasticity And Language In The Anaesthetized Human Hippocampus, Kalman A Katlowitz, Eric R Cole, Elizabeth A Mickiewicz, Shraddha Shah, Melissa Franch, Joshua A Adkinson, James L Belanger, Raissa K Mathura, Domokos Meszéna, Matthew Mcginley, William Muñoz, Garrett P Banks, Sydney S Cash, Chih-Wei Hsu, Angelique C Paulk, Nicole R Provenza, Andrew J Watrous, Ziv Williams, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Sarah R Heilbronner, Robert Kim, Nuttida Rungratsameetaweemana, Benjamin Y Hayden, Sameer A Sheth

Faculty, Staff and Students Publications

This corrects the article "Plasticity and language in the anaesthetized human hippocampus" in volume 654 on page 714.


Biphasic Sleep Is A Feature Of Sleep Disturbance In Syngap1-Rd, Aida Doucoure, Het Patel, Mark A Abboud, Alice Sperry, Sarah K Wanigatunga, Deana Crocetti, Heather Volk, Adam P Spira, Stewart H Mostofsky, Vaishnav Krishnan, Constance Smith-Hicks Jul 2026

Biphasic Sleep Is A Feature Of Sleep Disturbance In Syngap1-Rd, Aida Doucoure, Het Patel, Mark A Abboud, Alice Sperry, Sarah K Wanigatunga, Deana Crocetti, Heather Volk, Adam P Spira, Stewart H Mostofsky, Vaishnav Krishnan, Constance Smith-Hicks

Faculty, Staff and Students Publications

Study objectives: Sleep problems are common in children with SYNGAP1-Related Disorder (SYNGAP1-RD). The use of devices that objectively estimate sleep are complicated by co-occurring sensory disorders in this population. We examined the feasibility and validity of wrist actigraphy to examine sleep and rest-activity rhythms (RAR).

Methods: Data from five children with SYNGAP1-RD and 42 typically developing children were analyzed. All children were asked to wear the Actiwatch-2 for 14 continuous days and caregivers were asked to complete a sleep diary and the Children Sleep Health Questionnaire (CSHQ). Parametric (alpha, beta, acrophase, amplitude, up/down mesor, mesor), nonparametric (intradaily variability, interdaily stability, …


A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura Jul 2026

A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura

Faculty, Staff and Students Publications

In 2016, the Japan Children's Cancer Group launched a nationwide research initiative to provide central diagnosis incorporating pathology review and molecular profiling for pediatric central nervous system (CNS) tumors. Over the first eight years, 2224 cases were registered. Non-next-generation sequencing analyzes, such as pyrosequencing and NanoString, were routinely performed, mainly for glioma, medulloblastoma, and ependymoma. Additional analyzes, including methylation profiling and RNA sequencing, were conducted for selected diagnostically challenging cases. The most common diagnoses were low-grade glioma (26%), medulloblastoma (18%), germ cell tumor (16%), high-grade glioma (12%), and ependymoma (11%). Diagnostic or targetable alterations were detected in nearly half of …


Clinical Features And Dental Pathologies In Maxillary Sinus Fungal Balls And Odontogenic Sinusitis, Eunice Im, Lane Donaldson, Avraham Adelman, Nithin D Adappa, Yi-Wei Chen, Nikita Chapurin, Jennifer E Douglas, Glen E D'Souza, Jacob Eide, Maria Espinosa, Chia-Hsiang Fu, Meha G Fox, Rohit Garg, Edward C Kuan, Michael A Kohanski, Marta Kwiatkowska, Kevin Li, Derek H Liu, Tran Bao Locke, Chih-Feng Lin, Chadi Makary, Alice Ottavi, Peter Papagiannopoulos, James N Palmer, Charles C L Tong, Bobby A Tajudeen, Sanjena Venkatesh, Kimberly Wei, Frederick Yoo, Alison J Yu, Jun Jin, Alberto M Saibene, John R Craig Jul 2026

Clinical Features And Dental Pathologies In Maxillary Sinus Fungal Balls And Odontogenic Sinusitis, Eunice Im, Lane Donaldson, Avraham Adelman, Nithin D Adappa, Yi-Wei Chen, Nikita Chapurin, Jennifer E Douglas, Glen E D'Souza, Jacob Eide, Maria Espinosa, Chia-Hsiang Fu, Meha G Fox, Rohit Garg, Edward C Kuan, Michael A Kohanski, Marta Kwiatkowska, Kevin Li, Derek H Liu, Tran Bao Locke, Chih-Feng Lin, Chadi Makary, Alice Ottavi, Peter Papagiannopoulos, James N Palmer, Charles C L Tong, Bobby A Tajudeen, Sanjena Venkatesh, Kimberly Wei, Frederick Yoo, Alison J Yu, Jun Jin, Alberto M Saibene, John R Craig

Faculty, Staff and Students Publications

Objectives: While maxillary sinus fungal balls (MSFB) can be associated with odontogenic conditions (MSFBO), MSFBO clinical and dental features have not been compared to odontogenic sinusitis (ODS). This multicenter study aimed to compare characteristics of MSFB, MSFBO, and ODS.

Methods: A multicenter international retrospective cohort study was conducted on adults with MSFBs and ODS who underwent sinus surgery. First in MSFBs, it was determined whether different dental conditions were more likely in FB versus non-FB sides. Second, clinical features and dental pathologies were compared between MSFBO and ODS. For analyses, dental conditions were considered individually and as two groups: infectious …


Adlm Guidance Document On Incorporating Gender Diversity In Pathology And Laboratory Medicine, Tiffany A Thomas, Gabrielle N Winston-Mcpherson, Ina Amarillo, Alisha D Berry, Caroline J Davidge-Pitts, Sridevi Devaraj, Zil Goldstein, Brad S Karon, Brooke M Katzman, Mahmoud A Khalifa, Hung S Luu, James H Nichols, Tracy L Stockley, Michelle R Stoffel, Dina N Greene, Matthew D Krasowski Jul 2026

Adlm Guidance Document On Incorporating Gender Diversity In Pathology And Laboratory Medicine, Tiffany A Thomas, Gabrielle N Winston-Mcpherson, Ina Amarillo, Alisha D Berry, Caroline J Davidge-Pitts, Sridevi Devaraj, Zil Goldstein, Brad S Karon, Brooke M Katzman, Mahmoud A Khalifa, Hung S Luu, James H Nichols, Tracy L Stockley, Michelle R Stoffel, Dina N Greene, Matthew D Krasowski

Faculty, Staff and Students Publications

Background: The first international clinical standards of care for the gender-diverse population were formulated in the late 1970s. In the last 15 years, multiple subspecialty societies within the United States have developed clinical care guidelines for those with gender dysphoria, including gender-affirming hormone therapy (GAHT) and surgical treatments. To date, there are no pathology- and laboratory medicine-specific recommendations in the United States for the gender-diverse population.

Content: This document outlines pathology- and laboratory medicine-specific recommendations for providing optimal care to the gender-diverse population, with a predominant focus on the adult population. The scope of this document focuses on the following …


Upholding Our Promise: Negotiating Belonging And Professional Identity Formation In Underrepresented In Medicine Pediatric Residents, Oriaku A Kas-Osoka, Courtney A Gilliam, Lahia Yemane, Candice Taylor Lucas, Rebecca Blankenburg, H Mollie Grow, Laura Kester-Prakash, Jyothi Marbin, Patricia Poitevien, Audrea M Burns Jul 2026

Upholding Our Promise: Negotiating Belonging And Professional Identity Formation In Underrepresented In Medicine Pediatric Residents, Oriaku A Kas-Osoka, Courtney A Gilliam, Lahia Yemane, Candice Taylor Lucas, Rebecca Blankenburg, H Mollie Grow, Laura Kester-Prakash, Jyothi Marbin, Patricia Poitevien, Audrea M Burns

Faculty, Staff and Students Publications

Objective: To explore UIM pediatric residents' perspectives on how belonging impacts PIF and Well-BP.

Methods: We conducted a national qualitative study grounded in a critical interpretivist paradigm using virtual focus groups with UIM pediatric residents between June 2022 and April 2023. Data were analyzed by 4 authors using reflexive thematic analysis until theoretical sufficiency was reached. Member-checking was conducted to ensure the trustworthiness of the themes.

Results: Twenty-four UIM pediatric residents across 20 programs participated. Five themes emerged as follows: 1) Belonging is a dynamic process shaped by daily affirmations and invalidations; 2) Clinical learning environments often erode belonging through …