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Articles 1141 - 1170 of 11110

Full-Text Articles in Diseases

Identification Of Surrogate Biomarkers For Mucopolysaccharidosis Type Iva, Yasuhiko Ago, Shaukat Khan, Kimberly Klipner, Allison Bradford, Shunji Tomatsu May 2025

Identification Of Surrogate Biomarkers For Mucopolysaccharidosis Type Iva, Yasuhiko Ago, Shaukat Khan, Kimberly Klipner, Allison Bradford, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome) is a rare inherited disorder characterized by skeletal dysplasia due to deficient N-acetylgalactosamine-6-sulfate sulfatase activity, resulting in glycosaminoglycan (GAG) accumulation. Identifying accurate biomarkers reflecting clinical severity and therapeutic response remains challenging. This study evaluated potential surrogate biomarkers, including N-terminal pro-C-type natriuretic peptide (NT-proCNP), collagen types I and II, mono-sulfated keratan sulfate (KS), di-sulfated KS, and chondroitin-6-sulfate (C6S), in blood and urine samples from 60 patients ranging from 1 to 62 years of age. NT-proCNP levels were significantly elevated in patients of all ages and negatively correlated with growth impairment, especially after 8 …


Rethinking Congenital Cytomegalovirus: A Narrative Review Of The Clinical, Public Health, And Ethical Challenges Of A Preventable Cause Of Childhood Hearing Loss, M. Peyton Simons, Gauri Mankekar May 2025

Rethinking Congenital Cytomegalovirus: A Narrative Review Of The Clinical, Public Health, And Ethical Challenges Of A Preventable Cause Of Childhood Hearing Loss, M. Peyton Simons, Gauri Mankekar

School of Medicine Faculty Publications

Congenital cytomegalovirus (cCMV) is the most common non-genetic cause of pediatric sensorineural hearing loss, affecting approximately tens of thousands of infants annually in the United States. While cCMV may present symptomatically at birth, many infants are asymptomatic initially and later develop progressive or fluctuating hearing loss, which is often undiagnosed without early screening. Despite advances in diagnostic methods such as polymerase chain reaction (PCR) testing, the absence of a national screening policy in the U.S. results in significant variability in early detection and follow-up care. This narrative review provides an overview of the clinical manifestations, diagnostic strategies, and treatment options …


Intersection Of Alcohol Use, Pain Symptoms, And Negative Affect In Total Knee Arthroplasty Patients And People With Hiv, Taylor Fitzpatrick-Schmidt, Vinod Dasa, Claudia Leonardi, Tekeda F. Ferguson, David A. Welsh, Patricia E. Molina, Martin J.J. Ronis, Scott Edwards May 2025

Intersection Of Alcohol Use, Pain Symptoms, And Negative Affect In Total Knee Arthroplasty Patients And People With Hiv, Taylor Fitzpatrick-Schmidt, Vinod Dasa, Claudia Leonardi, Tekeda F. Ferguson, David A. Welsh, Patricia E. Molina, Martin J.J. Ronis, Scott Edwards

School of Medicine Faculty Publications

Alcohol is a well-known analgesic, although excessive alcohol use can lead to hyperalgesia and heightened negative affect. This cross-sectional study examined associations between alcohol use, self-reported pain, and negative affective symptoms in two distinct cohorts of patients vulnerable to chronic pain: individuals undergoing total knee arthroplasty (TKA) surgery and a cohort of people with HIV (PWH). Participants were enrolled in two clinical studies: a retrospective study of patients undergoing TKA and a longitudinal study of PWH, the New Orleans Alcohol Use in HIV (NOAH) cohort. Based on the Alcohol Use Disorders Identification Test – Consumption (AUDIT-C) score, participants in both …


Addressing Socioeconomic Disparities In The Treatment Of Antimicrobial-Resistant Infections: The Role Of Pharmacists In Mitigating Barriers, Arin Wade, Danielle Egbujor, Anna Spalvieri, Owen Fox, Marisa Petrunich, Joshua Honaker, Samantha Mccord, Kasie Landin May 2025

Addressing Socioeconomic Disparities In The Treatment Of Antimicrobial-Resistant Infections: The Role Of Pharmacists In Mitigating Barriers, Arin Wade, Danielle Egbujor, Anna Spalvieri, Owen Fox, Marisa Petrunich, Joshua Honaker, Samantha Mccord, Kasie Landin

Pharmacy and Wellness Review

Antimicrobial resistance is an escalating global threat driven by inappropriate antibiotic use and shaped by socioeconomic disparities. Social determinants of health, including limited healthcare access, poverty, low health literacy, and environmental conditions, contribute to higher rates of resistant infections and poorer treatment outcomes in underserved populations. Barriers such as pharmacy deserts, self-medication, and inadequate stewardship infrastructure amplify these risks. Pharmacists, as accessible and highly trained healthcare professionals, play a critical role in combating antimicrobial resistance by optimizing antibiotic use, delivering culturally competent education, and leading antimicrobial stewardship programs across settings. Community and clinical pharmacists are especially well positioned to bridge …


Exploring Anticoagulation Trends As Early Infection Markers In Pediatric Ecmo And Crrt Patients, Samantha Davidson, Jay Rilinger, Jenna Miller, Caroline Holton, Joshua Herigon, Brian Lee May 2025

Exploring Anticoagulation Trends As Early Infection Markers In Pediatric Ecmo And Crrt Patients, Samantha Davidson, Jay Rilinger, Jenna Miller, Caroline Holton, Joshua Herigon, Brian Lee

Research Days

This retrospective cohort study at a tertiary pediatric hospital included ICU patients who developed infections after 72 hours on extracorporeal support from 2017-2023. We assessed whether the number of anticoagulation dose changes are linked to acquired infections.


Engineering A Novel Treg Population To Control Autoimmune Diabetes, Sofia Colon Guzman, Elly Puckett, Mary A. Markiewicz, Ryan T. Fischer May 2025

Engineering A Novel Treg Population To Control Autoimmune Diabetes, Sofia Colon Guzman, Elly Puckett, Mary A. Markiewicz, Ryan T. Fischer

Research Days

We created a model to test the immunosuppressive capacity of Helios+FOXP3+ eTregs compared to nTregs against islet-specific autoreactive T cells. We also showed that nTregs decrease the response of these cytotoxic T cells when co-cultured with BetaLox5 cells.


Shilla Growth Guidance System (Sggs) Instrumentation With Pelvic Foundation (Sggs) For Severe Neuromuscular Spine Deformity. Does It Work?, Hannah Geoffroy, Richard Schwend May 2025

Shilla Growth Guidance System (Sggs) Instrumentation With Pelvic Foundation (Sggs) For Severe Neuromuscular Spine Deformity. Does It Work?, Hannah Geoffroy, Richard Schwend

Research Days

This study evaluates the use of the Shilla Growth Guidance System (SGGS) with a pelvic foundation for treating severe neuromuscular scoliosis in young children. The primary outcomes include revision surgery and complication rates. In a 21-patient cohort (mean age 5.3 years, follow-up 10 years), 57% required only one surgery, while 43% needed revisions. The complication rate was 38%, with a 29% deep infection rate. The procedure improved spinal alignment and growth but carried significant risks. SGGS with pelvic fixation may reduce the need for repeated surgeries in this complex patient population.


Pcsk-9 Inhibitors Treatment: The Cardiovascular Disparity, Julia Lees, Seana-Pierre Williams, Tahir Razzaq, Michael B. Roberts May 2025

Pcsk-9 Inhibitors Treatment: The Cardiovascular Disparity, Julia Lees, Seana-Pierre Williams, Tahir Razzaq, Michael B. Roberts

The Journal of Integrated Primary Care

Introduction: According to the Center for Disease Control and Prevention (CDC) and American Heart Association (AHA), cardiovascular disease is the leading cause of death in the United States. This phenomenon disproportionally affects the African American population, who have a 31% higher mortality rate than non-Hispanic Caucasian individuals. A retrospective review of PCSK-9 medication use, specifically in a patient population that had minimal representation in the large, landmark clinical trials, can lead to better understanding about the therapeutic potential in cardiovascular disease reduction and patient outcomes attributed to medication use. Education regarding this novel drug class, medication access and patient support, …


A Retrospective Study Of Pulmonary Function Tests In Bronchiectasis: An Infectious Disease Of The Respiratory System, Vinod Mutkule, Mahesh Shinde, Vidya Bapmare, Sangramsingh Dixit, Atharva Sharma, Kshitij Sarwey, Yogeshwari Patil, Sanket Jethlia, Aayushi Dwivedi, Disha Pardeshi, Anmol Rai, Kunal Shah, Vidhi Kalwar May 2025

A Retrospective Study Of Pulmonary Function Tests In Bronchiectasis: An Infectious Disease Of The Respiratory System, Vinod Mutkule, Mahesh Shinde, Vidya Bapmare, Sangramsingh Dixit, Atharva Sharma, Kshitij Sarwey, Yogeshwari Patil, Sanket Jethlia, Aayushi Dwivedi, Disha Pardeshi, Anmol Rai, Kunal Shah, Vidhi Kalwar

The University of Louisville Journal of Respiratory Infections

Introduction: Bronchiectasis, currently being recognized worldwide, is an abnormal dilatation of the bronchi and bronchioles brought on by recurrent cycles of inflammation and airway infection. Impaired pulmonary function has a predictive significance in bronchiectasis. When treating patients with suspected or confirmed respiratory diseases, pulmonary function tests (PFT) are useful examinations. Very few studies have been done on PFTs in bronchiectasis. The main aim of this study is to study PFTs in bronchiectasis.

Method: This is a retrospective observational study done on 50 patients over two years at the tertiary care center. The previous records of patients were collected from the …


Assessments Of Social Vulnerability On Laryngeal Cancer Treatment & Prognosis In The Us: Epidemiology, David J. Fei-Zhang, Camaren M. Cuenca, Angela D. Haskins, Andrew P. Stein, David G. Lott, Urjeet A. Patel, Stephanie S. Smith, Amy L. Dimachkieh, Nosayaba Osazuwa-Peters, Jill N. D’Souza, Anthony M. Sheyn, Jeffrey C. Rastatter, Daniel C. Chelius May 2025

Assessments Of Social Vulnerability On Laryngeal Cancer Treatment & Prognosis In The Us: Epidemiology, David J. Fei-Zhang, Camaren M. Cuenca, Angela D. Haskins, Andrew P. Stein, David G. Lott, Urjeet A. Patel, Stephanie S. Smith, Amy L. Dimachkieh, Nosayaba Osazuwa-Peters, Jill N. D’Souza, Anthony M. Sheyn, Jeffrey C. Rastatter, Daniel C. Chelius

School of Medicine Faculty Publications

Background: Previous social determinants of health (SDoH) studies on laryngeal cancer (LC) have assessed individual factors of socioeconomic status and race/ethnicity but seldom investigate a wider breadth of SDoH-factors for their effects in the real-world. This study aims to delineate how a wider array of SDoH-vulnerabilities interactively associates with LC-disparities. Methods: This retrospective cohort study assessed 74,495 LC-patients between 1975 and 2017 from the Surveillance-Epidemiology-End Results (SEER) database using the Social Vulnerability Index (SVI) from the CDC, total SDoH-vulnerability from 15 SDoH variables across specific vulnerabilities of socioeconomic status, minority-language status, household composition, and infrastructure/housing and transportation, which were measured …


Identifying Distinct Subgroups With Severe Pain In Sickle Cell Disease: A Cluster Analysis Of The Grndad Multi-Center Registry, Martha O. Kenney, Samuel Wilson, Morgan Rosser, Sophie Lanzkron, Julie Kanter, Susan Padrino, Payal Desai, Deepa Manwani, Alice Cohen, Stephanie Guarino, Ward Hagar, Joshua Field, Jane Little May 2025

Identifying Distinct Subgroups With Severe Pain In Sickle Cell Disease: A Cluster Analysis Of The Grndad Multi-Center Registry, Martha O. Kenney, Samuel Wilson, Morgan Rosser, Sophie Lanzkron, Julie Kanter, Susan Padrino, Payal Desai, Deepa Manwani, Alice Cohen, Stephanie Guarino, Ward Hagar, Joshua Field, Jane Little

Department of Medicine Faculty Papers

Sickle cell disease (SCD) affects millions of individuals worldwide, and is characterized by both acute, episodic pain and chronic, persistent pain. Despite the significant burden of the disease, clinicians continue to face significant challenges in treating SCD pain due to variability in pain experiences. The objectives of this study were (1) to identify distinct pain subgroups based on demographic and biopsychosocial characteristics and (2) to evaluate the relationship between the subgroups and pain impact - a SCD-disease specific measure of pain interference. To achieve these objectives, we performed a hierarchical cluster analysis on a cross-sectional sample of adults with SCD …


Safety And Efficacy Of A Mesenchymal Stem Cell Secretome Therapy (Kpi-012) For Persistent Corneal Epithelial Defects: A Phase 1b Trial, Valeria Sánchez Huerta, Hugo Quiroz-Mercado, Enrique O Graue-Hernández, Alejandro Navas, Spencer Alford, Darius Kharabi, Stephen Pflugfelder May 2025

Safety And Efficacy Of A Mesenchymal Stem Cell Secretome Therapy (Kpi-012) For Persistent Corneal Epithelial Defects: A Phase 1b Trial, Valeria Sánchez Huerta, Hugo Quiroz-Mercado, Enrique O Graue-Hernández, Alejandro Navas, Spencer Alford, Darius Kharabi, Stephen Pflugfelder

Faculty, Staff and Students Publications

Background: Persistent corneal epithelial defect (PCED) is a condition often refractory to conventional treatments. KPI-012 is a topical mesenchymal stem cell secretome therapy under investigation for PCED management.

Objective: To assess the safety, tolerability, and corneal wound healing efficacy of KPI-012 in a phase 1b, proof-of-concept, open-label, single-arm clinical trial.

Methods: The safety profile and tolerability of topical self-administered KPI-012 therapy (twice daily, 1-week duration) were first evaluated in an initial safety cohort of participants with pre-existing permanent vision loss and no active corneal disease (n = 3). The safety profile and efficacy of KPI-012 were then assessed in participants …


Q Fever Pericardial And Pleural Effusions In A Pediatric Patient, Jonathan Ermer, Ben Kazdan, Cooper Bassham, Jacqueline Walker May 2025

Q Fever Pericardial And Pleural Effusions In A Pediatric Patient, Jonathan Ermer, Ben Kazdan, Cooper Bassham, Jacqueline Walker

Research Days

Background: Q fever is a bacterial infection caused by Coxiella burnetii. Q fever commonly presents with flu-like symptoms (fever, chills, fatigue, myalgias) in patients about 2-3 weeks after exposure to farm animals. Less commonly, Q fever can cause severe illness such as myocarditis, pericarditis, or meningitis. We present a rare case of a pediatric patient with pericardial and pleural effusions secondary to Q fever.

Case presentation: History of present illness: The patient is a 9-year-old female who presented as a referral from an outside hospital due to chest pain, shortness of breath, and 2 weeks of fever. The patient started …


Characteristics Of Pediatric Patients With Sports-Related Concussions: A Single Site Retrospective Review, Jose A. Cruz Ayala, Shahrukh Khan, Holly Monk, Emma Cole, Alison Smith, Scott Schultz, Lindsay Elliott, Jessica Zagory May 2025

Characteristics Of Pediatric Patients With Sports-Related Concussions: A Single Site Retrospective Review, Jose A. Cruz Ayala, Shahrukh Khan, Holly Monk, Emma Cole, Alison Smith, Scott Schultz, Lindsay Elliott, Jessica Zagory

School of Medicine Faculty Publications

PURPOSE: Sports-related concussion (SRC) cases have increased among children in the last decade. Differences in concussion symptoms, presentation, and follow-up care exist when comparing demographics. The aim of this study was to explore SRC within the pediatric population. METHODS: A retrospective chart review of patients ≤ 18 years old diagnosed with SRC at a New Orleans stand-alone children's hospital from January 2007 to December 2021 was performed. T-test and Fisher's exact test were used for relationship between outcomes and sports, demographics, setting, insurance, and follow-up care. RESULTS: Children who sustained SRC at practice were more likely to be male (p …


Variables Affecting Neurodevelopmental Outcome In Infants With Critical Congenital Heart Disease, Elizabeth Loughman, Julie Weiner Do, Marcie Files Md May 2025

Variables Affecting Neurodevelopmental Outcome In Infants With Critical Congenital Heart Disease, Elizabeth Loughman, Julie Weiner Do, Marcie Files Md

Research Days

Background: The mortality of cardiac conditions in infancy is improving with advances in surgical planning and medical management. Neurologic morbidity remains significant. Clinically correlating an infant with their neurologic exam, MRI/EEG, and subsequent developmental testing remains a challenge. Counseling regarding neurologic outcomes after cardiac intervention is difficult due to the wide range of findings that can sometimes be clinically irrelevant.

Purpose: The goal of this study is to identify factors associated with poor neurodevelopmental outcomes in infants with critical congenital heart defects (CCHD) as assessed by the Bayley Scales of Infant and Toddler Development Edition IV (Bayley).

Methods: This is …


Implementation Of A Weaning Protocol For Inhaled Nitric Oxide In A Level Iv Neonatal Intensive Care Unit, Elizabeth Loughman, Julie Weiner Do, Maryam El Tawil, Chris Nitkin Md May 2025

Implementation Of A Weaning Protocol For Inhaled Nitric Oxide In A Level Iv Neonatal Intensive Care Unit, Elizabeth Loughman, Julie Weiner Do, Maryam El Tawil, Chris Nitkin Md

Research Days

Background: Decrease time to begin iNO weaning from 13 hours to 9.75 hours by 31 December 2024 in patients with persistent pulmonary hypertension of the newborn (PPHN).

Methods: Countermeasures include (1) provider education at each disciplinary level, (2) badge reminder cards and laminated copies of the protocol available at the bedside, (3) order set modifications, (4) abnormality tracking at huddles. Data collection will be automated through weekly Business Objects report. The main outcome measure will be time to first wean of iNO after meeting protocol criteria. Feedback regarding the ease of weaning will be generated via Gemba Rounds.

Results: These …


Physiologically Based And Population Pharmacokinetic Modeling Of Midazolam In Children With Obesity Using Real-World Data, Sean Mccann, Victória E. Helfer, Stephen J. Balevic, William J. Muller, John N. Van Den Anker, Amira Al-Uzri, Marisa L. Meyer, Sarah G. Anderson, Sitora Turdalieva, Andrea N. Edginton, Daniel Gonzalez, Best Pharmaceuticals For Children Act Pediatric Trials Network Steering Committee May 2025

Physiologically Based And Population Pharmacokinetic Modeling Of Midazolam In Children With Obesity Using Real-World Data, Sean Mccann, Victória E. Helfer, Stephen J. Balevic, William J. Muller, John N. Van Den Anker, Amira Al-Uzri, Marisa L. Meyer, Sarah G. Anderson, Sitora Turdalieva, Andrea N. Edginton, Daniel Gonzalez, Best Pharmaceuticals For Children Act Pediatric Trials Network Steering Committee

Department of Pediatrics Faculty Papers

Children represent a highly complex and variable population for treatment, including interindividual differences in drug dose-exposure. Midazolam has been used as a sedative for hospitalized children on- and off-label; however, factors affecting interindividual variability (IIV) in observed clearance for this population are not fully understood and can result in extreme under- or overexposure. Obesity has been described as a significant influence on midazolam in adolescents, which could potentially alter drug exposure. The goal of this study was to use two modeling strategies to evaluate dose-exposure of midazolam in children with and without obesity. Population pharmacokinetic modeling assessed whether measures of …


Optimal Diagnostic Strategies For Concussion-Related Vision Disorders: A Review, Iniya K. Adhan, Kammi B. Gunton May 2025

Optimal Diagnostic Strategies For Concussion-Related Vision Disorders: A Review, Iniya K. Adhan, Kammi B. Gunton

Wills Eye Hospital Papers

Concussions are a mild form of traumatic brain injury (TBI) that is typically self-limited and transient with a high prevalence within our communities. Due to the vast visual network interconnectivity, visual symptoms secondary to a concussion occur about 90% of the time. A gold standard to confirm concussion acutely has not been well established. Visual function testing based on symptoms remains the standard of care in off-site evaluation for diagnosis of oculomotor dysfunction. This review covers the current diagnostic strategies for vision based disorders post-concussion for sideline testing, off-site testing, and research driven testing.


Identification And Preclinical Assessment Of Novel Therapeutic Modalities In Environmental Exposure-Induced Lung Disease, Aaron D. Schwab May 2025

Identification And Preclinical Assessment Of Novel Therapeutic Modalities In Environmental Exposure-Induced Lung Disease, Aaron D. Schwab

Theses & Dissertations

Environmental lung diseases are preventable respiratory conditions either caused or made worse by inhaled environmental exposures. Contemporarily, environmental lung diseases are most associated with workplace exposures given specific occupational processes aerosolize inflammatory agents that can be inhaled at high concentrations. Although a considerable amount is known regarding immunoglobulin (Ig)E-mediated responses to environmental exposures, little is known about non-IgE mediated respiratory conditions resulting from lipopolysaccharide (LPS)-enriched organic dust exposure(s). Chronic respiratory diseases such as asthma, hypersensitivity pneumonitis, chronic obstructive pulmonary disease (COPD), and pulmonary fibrosis have all been identified as environmental lung diseases caused or exacerbated by such environmental dusts. Therapeutic …


A Modified Sir Model Used To Investigate The Relationship Between Congenital And Adult Syphilis, Kaleesta R. Waysman May 2025

A Modified Sir Model Used To Investigate The Relationship Between Congenital And Adult Syphilis, Kaleesta R. Waysman

Honors Thesis

A complex SIR model integrating the relationship between adult and congenital syphilis was developed. The goal of the project was to determine the specific population(s) or control strategies that should be enforced, altered, or removed to decrease the number of children experiencing clinical sequelae due to congenital syphilis. Early clinical sequelae include hydrops fetalis, preterm birth, central nervous system infection, hepatosplenomegaly, hyperbilirubinemia, cholestasis, hemolytic anemia, snuffles, osteochondritis, and lesions or rashes in the palms and soles. Late clinical sequelae include interstitial keratitis, hearing loss, Hutchinson teeth, saber shins, Clutton joints, mulberry molars, and saddle nose. After implementing real-world data into …


New First Trimester Circulating Angiogenic Biomarkers In Predicting Early-Onset And Late-Onset Fetal Growth Restriction: A Case-Control Study, Xiaoyi Bai, Wei Li, Wenjing Ding, Oi Ka Chan, Maran Bo Wah Leung, So Ling Lau, Daljit Singh Sahota, Chi Chiu Wang, Tak Yeung Leung May 2025

New First Trimester Circulating Angiogenic Biomarkers In Predicting Early-Onset And Late-Onset Fetal Growth Restriction: A Case-Control Study, Xiaoyi Bai, Wei Li, Wenjing Ding, Oi Ka Chan, Maran Bo Wah Leung, So Ling Lau, Daljit Singh Sahota, Chi Chiu Wang, Tak Yeung Leung

Faculty, Staff and Students Publications

Background: First trimester prediction of fetal growth restriction (FGR) remain suboptimal. We aimed to search for new circulating angiogenic biomarkers for improvement.

Methods: This case-control study compared 73 singleton pregnancies with early or late-onset FGR based on Delphi consensus and 73 matched normal controls. Their maternal serum samples stored during 11-13 weeks were retrieved for measurement of 36 angiogenic biomarkers by MILLIPLEX® human angiogenesis magnetic bead panels. Those biomarkers that showed significant differences between the study groups were further analysed with receiver operating characteristic (ROC) curve.

Results: In the early-onset FGR group, log10MoM of soluble neuropilin-1 (sNRP-1: 0.08 ± 0.11 …


Integrating Positive Psychology And Spirituality To Foster Meaning And Well-Being In Older Adults, Crystal Morris May 2025

Integrating Positive Psychology And Spirituality To Foster Meaning And Well-Being In Older Adults, Crystal Morris

Adultspan Journal

This perspective article explores the integration of positive psychology interventions (PPIs) and spirituality in therapy to foster meaning and well-being in older adults. It highlights exercises such as the positive introduction, positive legacy, character strengths, mindfulness, mindful-based yoga, and a manifestation prayer journaling. The interventions presented are tools to support older adults that may experience depression, difficult life transitions, and the search for renewed meaning. Therapists who integrate PPIs and spirituality into therapy can promote a holistic, non-pathological approach to treatment.


Impaired Dnajb2 Response To Heat Shock In Fibroblasts From A Neuropathy Patient With Dnajb2/Hsj1 Mutation: Cystamine As A Potential Therapeutic Intervention, Raj K. Pradhan, Nikolas G. Kinney, Brigid K. Jensen, Hristelina Ilieva May 2025

Impaired Dnajb2 Response To Heat Shock In Fibroblasts From A Neuropathy Patient With Dnajb2/Hsj1 Mutation: Cystamine As A Potential Therapeutic Intervention, Raj K. Pradhan, Nikolas G. Kinney, Brigid K. Jensen, Hristelina Ilieva

Farber Institute for Neuroscience Faculty Papers

Background and Objectives: Neuropathy is a debilitating disorder characterized by peripheral nerve dysfunction and damage to sensory, motor, and autonomic neurons and their axons. While homozygous mutations in DNAJB2/HSJ1 have been linked to early-onset neuropathy, a heterozygous DNAJB2 c.823+6C>T was discovered in an adult patient with severe sensory–motor polyneuropathy. This mutation is predicted to affect both isoforms of the protein. DNAJB2 (HSP40), a key member of the heat shock protein family, plays a critical role in cellular protection and stress, including response to heat shock. DNAJB2 traffics unfolded proteins to another heat shock protein, HSP70, and activates its ATPase …


A Systematic Review Of Neutrophilic Alopecias Of The Scalp In The Pediatric Population, Nesreen Shahrour, Layan Shahrour, Rahib K. Islam, Yoseph Dalia May 2025

A Systematic Review Of Neutrophilic Alopecias Of The Scalp In The Pediatric Population, Nesreen Shahrour, Layan Shahrour, Rahib K. Islam, Yoseph Dalia

School of Medicine Faculty Publications

Neutrophilic alopecias of the scalp - including dissecting cellulitis of the scalp, folliculitis decalvans, and Acne Keloidalis Nuchae - are rare, scarring, inflammatory disorders with overlapping clinical and histopathologic features that present unique diagnostic and therapeutic challenges in pediatric populations. This systematic review synthesizes findings from 35 eligible studies identified through a search of Medical Literature Analysis and Retrieval System Online, Excerpta Medica Database, Central Cochrane Medical Database, Cumulative Index to Nursing and Allied Health Literature, and Web of Science, focusing on treatment modalities and outcomes in children. Patients with dissecting cellulitis of the scalp often present with erythematous, tender …


A Clinical Review Of Suicide Risks In Dermatology, Rahib K. Islam, Victoria T. Tong, Shari R. Lipner May 2025

A Clinical Review Of Suicide Risks In Dermatology, Rahib K. Islam, Victoria T. Tong, Shari R. Lipner

School of Medicine Faculty Publications

Patients with visible skin diseases, including acne, psoriasis, and atopic dermatitis, face heightened risks of psychological distress, depression, and suicidal ideation, often exacerbated by social stigma and reduced quality of life. This review explores the intersection between dermatology and suicide, highlighting the psychosocial impact of visible skin conditions and the controversies surrounding treatment-related risks, including isotretinoin and biologic exposure. Current evidence suggests that while isotretinoin has been historically linked to mood changes, robust studies do not support a direct association with suicide. Incorporating mental health screenings into dermatological practice is essential for early identification and management of at-risk patients. By …


Sirt6 Deficiency Promotes Senescence And Age-Associated Intervertebral Disc Degeneration In Mice, Pranay Ramteke, Bahiyah Watson, Mallory Toci, Victoria Tran, Shira N Johnston, Maria Tsingas, Ruteja Barve, Ramkrishna Mitra, Richard Loeser, John Collins, Makarand Risbud May 2025

Sirt6 Deficiency Promotes Senescence And Age-Associated Intervertebral Disc Degeneration In Mice, Pranay Ramteke, Bahiyah Watson, Mallory Toci, Victoria Tran, Shira N Johnston, Maria Tsingas, Ruteja Barve, Ramkrishna Mitra, Richard Loeser, John Collins, Makarand Risbud

Department of Orthopaedic Surgery Faculty Papers

Intervertebral disc degeneration is a major risk factor contributing to chronic low back and neck pain. While the etiological factors for disc degeneration vary, age is still one of the most important risk factors. Recent studies have shown the promising role of SIRT6 in mammalian aging and skeletal tissue health, however its role in the intervertebral disc health remains unexplored. We investigated the contribution of SIRT6 to disc health by studying the age-dependent spinal phenotype of mice with conditional deletion of Sirt6 in the disc (AcanCreERT2; Sirt6fl/fl). Histological studies showed a degenerative phenotype in knockout mice …


Parvovirus B19 Infection In Kidney Transplant Recipients, Hatem Najar, Kiran Goli, Maria P. Martinez Cantarin May 2025

Parvovirus B19 Infection In Kidney Transplant Recipients, Hatem Najar, Kiran Goli, Maria P. Martinez Cantarin

Division of Nephrology Faculty Papers

On August 14, 2024, the Centers for Disease Control issued a Health Alert Network (HAN) health advisory due to a surge in Parvovirus B19 (B19V) infections in the United States. Our report presents two cases of suspected donor-derived Parvovirus B19 infection in kidney transplant patients. Both cases had refractory anemia requiring treatment with intravenous immunoglobulin. These cases highlight the importance of awareness and monitoring of B19V infection in the context of recent epidemiologic trends to improve clinical outcomes in kidney transplant recipients.


Reduced Vns Settings Paradoxically Decreases Seizure Burden In A Patient Following Resolution Of Sleep Disordered Breathing, Austin Sponaugle, Rebecca Stainman, Christopher M. Carosella May 2025

Reduced Vns Settings Paradoxically Decreases Seizure Burden In A Patient Following Resolution Of Sleep Disordered Breathing, Austin Sponaugle, Rebecca Stainman, Christopher M. Carosella

Abington Jefferson Health Papers

Vagus nerve stimulation (VNS) can be a highly effective treatment option for patients with drug resistant epilepsy. Notably, VNS has demonstrated side effects including a unique form of sleep disordered breathing known as vagus nerve stimulator associated sleep disordered breathing (VaS). However, the ways in which VaS interacts with seizure frequency is unknown. We report a case of a 28-year-old woman who presented to our department with complaints of worsening sleep quality 3 years following VNS implantation. Upon polysomnographic (PSG) evaluation, it was discovered that she suffered from VaS. The patient’s VNS output current was then down titrated during a …


A Cluster Randomized Trial Of A Multicomponent Clinical Care Pathway (Mccp) To Improve Masld Diagnosis And Management In Primary Care: Study Protocol, Kyler M Godwin, Larissa Grigoryan, Aaron P Thrift, Hao Duong, Fasiha Kanwal, Traber Giardina, Himabindu Kadiyala, Andrew Zimolzak, Kavish R Patidar, Hashem B El-Serag May 2025

A Cluster Randomized Trial Of A Multicomponent Clinical Care Pathway (Mccp) To Improve Masld Diagnosis And Management In Primary Care: Study Protocol, Kyler M Godwin, Larissa Grigoryan, Aaron P Thrift, Hao Duong, Fasiha Kanwal, Traber Giardina, Himabindu Kadiyala, Andrew Zimolzak, Kavish R Patidar, Hashem B El-Serag

Faculty, Staff and Students Publications

Background: Metabolic dysfunction associated steatotic liver disease (MASLD) is the most common chronic liver disorder in the world. Most patients with MASLD are undiagnosed, untreated and unreferred. Treatment depends on diagnosis and accurate staging of fibrosis risk, and therefore screening at the primary care setting coupled with consistent, timely, evidence-based, widely accessible, and testable management processes is critical. Randomized controlled trials of methods for screening, diagnosis, severity stratification, and referral are lacking. We previously validated the MASLD clinical care pathway (MCCP), a multistep algorithmic process geared to support primary care settings in screening, diagnosis, risk stratification, and suggested referral and …


Rapidly Developing Bilateral Loculated Streptococcus Pyogenes Empyema In An Immunocompetent Adult: A Case Report, Anish K Shrestha, Matthew Dwumah-Agyen, Boniface Mensah, Yvette Yeboah-Kordieh, Marcos A Wolff, Jennifer A Evans May 2025

Rapidly Developing Bilateral Loculated Streptococcus Pyogenes Empyema In An Immunocompetent Adult: A Case Report, Anish K Shrestha, Matthew Dwumah-Agyen, Boniface Mensah, Yvette Yeboah-Kordieh, Marcos A Wolff, Jennifer A Evans

Journal of Community Hospital Internal Medicine Perspectives

Streptococcus pyogenes is a rare cause of empyema, especially in immunocompetent individuals. The organism expresses various virulence factors leading to rapid progression of the disease. We report a case of rapidly progressing bilateral loculated empyema caused by streptococcus pyogenes in an immunocompetent host without additional risk factors.