Medical Specialties Commons^™

Current Trends In School Nursing For Diabetes & Dermatology, Ali Al-Nahi, Jeffrey Dickerson, Enith Espinosa Palmett, Shterna Frand, Garrett Furth, Matthew Gutzmer, Marshall Hall, Sana Khan, Shana-Kay Lambert-Johnson, Henry Lim, Kelly Mofor, Lakshmi Morla, Ali Nazim, Rui Zhang, Christian Scheufele, Zara Soomro, Michele Mccarroll, Taylor Pickering, Jasmine Silva, Brina Gonzalez, Devika Adusumilli, Sherri Morgan, Nischal Pokhrel

North Texas Research Forum 2025

Background: School nurses are on the front lines of assessing, identifying and treating school-age children with a number of health complications. Implementing nursing services in schools has previously demonstrated improved medical care costs for students, less productivity loss for parents, and less productivity loss for teachers. As a result, nursing services in schools provide a cost-beneficial investment of public money, and warrant both financial support from policy makers as well as educational support from local healthcare services. Aim Statement: This quality improvement project addressed the targeted continuing education gap topics of Dermatology and Diabetes management in school age children. Methods: …

A Case Of Neutrophilic Dermatosis Of The Dorsal Hands With Post-Traumatic Onset, Marshall Hall, Kristina Kafle, Henry Lim, Christian Scheufele, Garrett Furth, Michael Carletti, Stephen Weis

North Texas Research Forum 2025

Background Sweet Syndrome is an acute, febrile neutrophilic dermatosis that is characterized by painful red lesions, fever, and neutrophilia with histological findings of dermal neutrophilic infiltrate. Neutrophilic Dermatosis of the Dorsal Hands is a localized variant of Sweet Syndrome. Neutrophilic Dermatosis of the Dorsal Hands presents with focused lesions on the dorsal hands, most commonly between the index finger and thumb, typically with fewer systemic manifestations. This condition presents significant diagnostic challenges as it can mimic infectious processes, potentially leading to delayed appropriate treatment. Case Information A 64-year-old male presented to the emergency department with wounds on the bilateral hands. …

Investigating The Relationship Between Skin Color, Ethnicity, And The Fitzpatrick Skin Scale, Henry Lim, Dana Olsen, Reem Ayoub, Maria Francesca Ysabelle Martinez, Rafael Do Valle, Kristina Kafle, Christina Guo, Marshall Hall, Christian Scheufele, Michael Carletti, Stephen Weis

North Texas Research Forum 2025

Introduction: The Fitzpatrick skin scale has long been used as a proxy for skin tone categorization. However, its initial creation was to classify reactivity of white skin to ultraviolet A radiation. A reported one-third of dermatologists conflate the Fitzpatrick skin scale for race and ethnicity. Approximately half of the dermatologists also reported utilizing the Fitzpatrick scale to describe skin color. The goal of this study was to compare the Fitzpatrick scale to skin color and ethnicity in a larger, cohort including the full spectrum of skin tones. Methods: Subjects completed a standardized questionnaire. The questionnaire encompassed subjective classification methods: self-reported …

A Case Of Biopsy-Proven Atopic Dermatitis Perpetuated By Psychosomatic Factors, Henry Lim, Jamie Y. Choe, Marshall Hall, Arianne Felicitas, Christian Scheufele, Garrett Furth, Michael Carletti, Stephen Weis

North Texas Research Forum 2025

Introduction: Psychodermatology is an interdisciplinary branch of psychosomatic medicine that addresses interactions between the psyche and skin. Stress is often a key exacerbating factor and highlights the bidirectional relationship between psychological factors and skin disorders. Atopic dermatitis (AD) is a chronic skin condition affecting pediatric and adult populations with an estimated global prevalence of approximately 2.6%, or approximately 204 million people. AD classically presents with a red, scaly, pruritic rash. Here, we present a case of biopsy-proven AD induced by stress-associated behaviors related to patient-identified obsessive-compulsive habits. Case Presentation: A 61-year-old female presented for persistent itching and white discoloration in …

Molluscum Dermatitis In A Pediatric Patient, Garrett Furth, Olivia Mayer, Marshall Hall, Henry Lim, Christian Scheufele, Michael Carletti, Stephen Weis

North Texas Research Forum 2025

Atopic dermatitis (AD) is a chronic relapsing condition characterized by irritation, redness, inflammation, and itching of the skin. The cause of AD is theorized to be multifactorial, including genetic components, such as mutations in filaggrin, environmental exposures, and immune predisposition. AD often presents in childhood and adolescence, but can appear at any age. AD eruptions arise through various triggers, which commonly include soaps, detergents, fabrics, and cold or hot weather. Importantly, viral infections can also serve as a trigger, causing systemic inflammation via host defense mechanisms. Molluscum contagiosum (MC) is a double-stranded DNA virus that classically manifests as small, dome-shaped, …

Clinical Evaluation And Management Of Terra Firma-Forme Dermatosis: Insights From Two Diverse Cases, Henry Lim, Rafael Do Valle, Reem Ayoub, Marshall Hall, Michael Carletti, Stephen Weis

North Texas Research Forum 2025

Terra Firma-Forme Dermatosis (TFFD), also known as Duncan’s dirty dermatosis is a benign, asymptomatic dermatologic condition characterized by well-demarcated brown patches to hyperkeratotic papules or plaques. It most commonly affects the neck, trunk, and face but can appear on other body regions. A key diagnostic feature is that these lesions persist despite routine washing with soap and water but can be removed by forcibly wiping the affected area with 70% isopropyl alcohol, revealing normal underlying skin. The exact etiology of TFFD remains unknown, though it is thought to involve abnormal keratinization or delayed desquamation. This condition is often underdiagnosed or …

Development And Validation Of An Accurate And Precise Skin Color Scale, Henry Lim, Christina Guo, Reem Ayoub, Rafael Do Valle, Kristina Kafle, Ysabelle Martinez, Dana Olsen, Marshall Hall, Christian Scheufele, Michael Carletti, Stephen Weis

North Texas Research Forum 2025

Introduction: Utilization of the Fitzpatrick scale to describe skin color does not adequately account for variations in pigmentation that are reflective of skin color characteristics of persons from diverse racial and ethnic backgrounds. This study aims to create a better way to describe skin color. Methods: We developed an 11-point color scale. This Skin Color Scale (SCS) was reproduced onto a physical card that could be placed onto a research participant’s inner arms for independent scale interpretation. Participants and two investigators selected the best matching scale interpretation value for each arm. Self-acquired and investigator assessed Fitzpatrick scores were taken. These …

The Demodex Expert Panel On Treatment And Eyelid Health (Depth) Consensus Regarding The Preferred Treatment For Demodex Blepharitis, Eric Donnenfeld, Kelly K Nichols, Brandon D Ayres, Marjan Farid, Preeya K Gupta, Richard Lyndon Lindstrom, Stephen Pflugfelder, Christopher E Starr, Nandini Venkateswaran, Ian Benjamin Gaddie, Paul M Karpecki, Cecelia Koetting, Selina Mcgee, Laura M Periman, Elizabeth Yeu

Faculty, Staff and Students Publications

Purpose: To reach consensus on Demodex blepharitis (DB) treatment approaches using a modified Delphi process involving 15 ocular surface disease experts.

Methods: The Demodex Expert Panel on Treatment and Eyelid Health (DEPTH) consisted of 15 well-published ocular surface disease experts. Panelists completed two online surveys, a live consensus meeting, and a follow-up survey. The surveys consisted of scaled and multiple-choice questions related to the clinical and patient-reported outcomes of DB and its treatment. For the scaled questions using a 1 to 9 Likert scale, consensus was defined as weighted mean scores of 1-3 and 7-9, whereas for multiple-choice questions, consensus …

Two-Dimensional Speckle Tracking Of The Ascending Aorta: A Novel Approach To Evaluate Arterial Stiffness In Pediatric Patients With Repaired Conotruncal Anomalies Using Echocardiography, Anmol Goyal, Anitha Parthiban, David A White, Daniel Forsha, Doaa Aly

Faculty, Staff and Students Publications

Background: Children with repaired conotruncal abnormalities (CTA) are at risk of progressive aortic dilation and deteriorating aortic elasticity even after surgical correction. Strain imaging, using a 2-dimensional speckle tracking echocardiography (2D-STE), has been used for arterial stiffness assessment, but pediatric data are still lacking. We investigated the feasibility, reproducibility, and clinical value of 2D-STE derived ascending aorta (AAo) stiffness in children with repaired CTA.

Methods: 22 pediatric patients with repaired CTA were included along with 25 age- and sex- matched healthy controls (mean age 10.2 ± 4.5 years). Conventional 2D echocardiographic and 2D-STE assessment of AAo mechanics was performed. M-mode …

Initiating Insulin Pumps In Youth With New-Onset Type 1 Diabetes: A Quality Improvement Initiative, Mili Vakharia, Sarah K Lyons, Don Buckingham, Mark Rittenhouse, Siripoom Mckay, Rona Sonabend, Grace Kim

Faculty, Staff and Students Publications

Introduction: Insulin pump therapy is recommended for youth with type 1 diabetes (T1D) as it enhances quality of life and improves glycemic management. We led a quality improvement initiative to increase insulin pump use in youth younger than 18 years of age with recently diagnosed T1D (duration < 1 y) from a baseline of 17% to 27% from January 2021 to December 2023. As a balancing measure, we evaluated the diabetes-related ketoacidosis (DKA) rate in the same cohort as nonpump users.

Methods: We implemented the following plan-do-study-act cycles: (1) development and implementation of pump initiation algorithm, including minimal safe start criteria and education on ketosis management with pump action plan, (2) establishing clinic follow-up within 90 days of pump start, (3) expansion of the pump algorithm at additional clinic locations, (4) early patient/caregiver education …

Prospective Multicenter Longitudinal Measurement Of Liver Stiffness In School-Age Children With Cholestatic Liver Disease, Benjamin L Shneider, Nathan P Goodrich, Wen Ye, Jean P Molleston, Daniel H Leung, Ronald J Sokol, Laurel Cavallo, Kasper Wang, Pamela L Valentino, Jeffery H Teckman, James E Squires, Shikha S Sundaram, Philip Rosenthal, Rene Romero, Alexander G Miethke, Kathleen M Loomes, Rohit Kohli, Saul J Karpen, Binita M Kamath, M Kyle Jensen, Jorge A Bezerra, Lee M Bass, John C Magee, Children

Faculty, Staff and Students Publications

Background and aims: A multicenter prospective longitudinal study of vibration-controlled transient elastography (VCTE) in school-age children with biliary atresia (BA), alpha-1 antitrypsin deficiency (a1-AT) and Alagille syndrome (ALGS) was undertaken to test the hypothesis that there would be measurable disease progression over 2 years.

Methods: Vibration-controlled transient elastography was performed annually for 2 years in children with BA, a1-AT and ALGS.

Results: Valid liver stiffness measurement (LSM) was determined at baseline/second follow-up in 254/180 (71%), 104/58 (56%) and 100/61 (61%) participants (mean elapsed time 2.27 years) with BA, a1-AT and ALGS, respectively. Modeling did not reveal a relationship between LSM …

Risk Scores For Choledocholithiasis Perform Poorly In Patients With Hemolytic Diseases: A Pedi Database Report, Jennifer Thompson, Wenly Ruan, Douglas S Fishman, Matthew Giefer, Kyung Mo Kim, Mercedes Martinez, Luigi Dall'oglio, Valerio Balassone, Filippo Torroni, Paola De Angelis, Simona Faraci, Cynthia Tsai, Michael Wilsey, Racha Khalaf, Petar Mamula, Quin Liu, Yuhua Zheng, Bradley A Barth, David Michael Troendle

Faculty, Staff and Students Publications

Patients with hemolytic diseases are at increased risk for gallstone-related complications. Modified scoring systems have been developed to assess which pediatric patients would benefit from endoscopic retrograde cholangiopancreatography (ERCP) to treat choledocholithiasis. This study aimed to evaluate the ability of the available criteria to determine which pediatric patients with hemolytic diseases are likely to benefit from ERCP. A secondary analysis was performed using the Pediatric ERCP Database Initiative database, which contains prospectively collected data from 1,124 ERCPs at tertiary-care institutions. We compared patients with a hemolytic disease to those without. Data was analyzed by two-tailed Fisher’s exact test and paired …

Comment On “Effectiveness And Safety Of Oral Vancomycin For The Treatment Of Inflammatory Bowel Disease Associated With Primary Sclerosing Cholangitis: A Systematic Review And Pooled Analysis”, Richard Kellermayer, Peter Lewindon, Cynthia Buness, James Tabibian, Kevin Johnson, Shamita Shah, Parambir Dulai, Ahmad H Ali, Ayesha Shah, Gerald Holtmann, Harland S Winter

Faculty, Staff and Students Publications

No abstract provided.

Interval Advanced Adenomas And Neoplasia In Patients With Negative Colonoscopy Following Positive Stool-Based Colorectal Cancer Screening Test, Kyle S Liu, Rollin George, Caleb Shin, Jia Q Xiong, Taher Jamali, Yan Liu, Priya Roy, Sonia Singh, Samuel Ma, Hashem B El-Serag, Mimi C Tan

Faculty, Staff and Students Publications

BACKGROUND/AIMS: Fecal occult blood test (FOBT) and fecal immunohistochemical test (FIT) are used for colorectal cancer (CRC) screening. However, when no adenomas are found following a positive FOBT/FIT, the future risk of advanced adenomas or colorectal cancer (CRC) is unclear. We determined the incidence and determinants of advanced adenomas or CRC after a negative index colonoscopy following a positive FOBT/FIT.

METHODS: We identified patients in the Harris Health System (Houston, Texas) who underwent a colonoscopy following a positive FOBT/FIT from 01/2010 to 01/2013. We compared the incidence rates of advanced adenomas (≥ 1 cm, villous histopathology, or high-grade dysplasia) or …

Resilience Of The Gut Microbiome To Short Proton Pump Inhibitor Therapy With Or Without High-Dosage L Reuteri In H Pylori-Infected Adults, Stefano Bibbò, Gustav Ahlström, Giovanni Mario Pes, David Y Graham, Lars Engstrand, Elettra Merola, Maria Pina Dore

Faculty, Staff and Students Publications

Background: Helicobacter pylori eradication therapy typically consists of a combination of antibiotics and an antisecretory drug. Probiotics may be added to reduce side effects and possibly improve outcomes.

Materials and methods: We conducted a double-blind, randomized trial of pantoprazole plus either Lactobacillus reuteri (Gastrus) (high dose) or a matching placebo to assess the impact on the gut microbiota of H. pylori-positive adults. Fecal samples were collected at baseline and after one and 2 months for shotgun metagenomic sequencing.

Results: A total of 26 patients were recruited and completed therapy. L. reuteri was only detected in the group that received supplemental …

Tb And Diabetes In Eswatini: Addressing Suboptimal Treatment Outcomes Through Integrated Services, Yael Hirsch-Moverman, Dana Bezuidenhout, Sakthi Senthilvelan, Lobsang Palmo, Debrah Vambe, Ntombifuthi Ginindza, Nonhlanhla Dlamini, Andrea A Howard, Joanne E Mantell

Faculty, Staff and Students Publications

Tuberculosis (TB) remains a significant public health challenge in Eswatini, a country with the highest global HIV prevalence. Diabetes mellitus (DM) is increasingly common among people newly diagnosed with TB, contributing to suboptimal TB treatment outcomes, including relapse and death. The DETECT study employed a multi-method approach to assess the prevalence and DM impact on TB treatment outcomes among adults with TB in 10 Ministry of Health facilities in Eswatini, and explore barriers and facilitators to integrating TB/DM services. DM screening was conducted using laboratory-based glycated hemoglobin (A1c) testing, with DM defined as A1c ≥ 6.5% and preDM as A1c …

The Catastrophic Cost Of Tb Care: Understanding Costs Incurred By Individuals Undergoing Tb Care In Low-, Middle-, And High-Income Settings – A Systematic Review, Olivia Alise D'Silva, Samantha Lancione, Oviya Ananthakrishnan, Angelina Addae, Suvesh Shrestha, Hannah Alsdurf, Kednapa Thavorn, Nompumelelo Mzizi, Anca Vasilu, Alexander Kay, Anna Maria Mandalakas, Alice Anne Zwerling

Faculty, Staff and Students Publications

Eliminating the burden of catastrophic costs experienced by individuals undergoing tuberculosis (TB) treatment is one of the World Health Organization (WHO) End TB Strategy targets. To help inform decisions on TB patient burden and cost-effective TB care, we conducted a systematic review to summarize current evidence around the burden of catastrophic costs incurred by individuals undergoing TB treatment and identified the main drivers of costs to aid in developing mitigation strategies. A literature search was performed in August 2024 using Embase, Web of Science, Scopus and Medline targeting studies using WHO, or WHO adapted patient costing questionnaires to measure direct …

Healthcare Providers’ Knowledge, Attitudes, And Perceptions From Using Targeted Sequencing To Diagnose And Manage Drug-Resistant Tuberculosis (Dr-Tb) In Eswatini, Maia Madison, Debrah Vambe, Sein Sein Thi, Mangaliso Ziyane, Nosisa Shiba, Babongile Blisset Nkala, Tara Ness, Agostinho Viana Lima, Sindisiwe Dlamini, Siphiwe Ngwenya, Anna Mandalakas, Alexander Kay

Faculty, Staff and Students Publications

Challenges in diagnosing drug-resistant tuberculosis (DR-TB) contribute to a diagnostic gap. Design-locked Targeted Sequencing (TS) assays have the potential to improve DR-TB diagnosis and management. TS assays are now being introduced into low-income, high TB burden settings. Eswatini is among the first high burden countries to have implemented TS for patient care. To evaluate the impact of the current program and optimize future implementation, we evaluated healthcare provider knowledge, attitudes, and perceptions (KAP) of TS and its implementation. We conducted semi-structured interviews with healthcare providers. Interviews were continued until data saturation was reached and analyzed by directed thematic analysis. The …

Hidden Markov Model For Acoustic Pesticide Exposure Detection And Hive Identification In Stingless Bees, Alex Otesbelgue, Amara Jean Orth, Chandler David Fong, Carol Anne Fassbinder-Orth, Betina Blochtein, Maria João Ramos Pereira

Faculty, Staff and Students Publications

Pollinator populations are declining globally at an unprecedented rate, driven by factors such as pathogens, habitat loss, climate change, and the widespread application of pesticides. Although colony losses remain difficult to prevent, precision beekeeping has introduced non-invasive strategies for monitoring hive conditions. Acoustic data, combined with machine learning techniques, has proven effective in detecting stressors and specific events in honeybee colonies; however, such methodologies remain underexplored for stingless bees, a group of native pantropical pollinators. Meliponiculture, the practice of keeping stingless bees, is an expanding field that offers significant economic and conservation benefits. Stingless bees are particularly susceptible to pesticide …

Occult Abdominal Trauma Screening In The Evaluation Of Suspected Child Physical Abuse, Tagrid M Ruiz-Maldonado, Joanne N Wood, Antoinette L Laskey, Christopher S Greeley, Angela Bachim, Daniel M Lindberg, James Anderst, John Melville, Carmen Coombs, Nancy S Harper, Lori Frasier, Farah W Brink, Caitlin E Crumm, Kristine A Campbell

Faculty, Staff and Students Publications

Background and objectives: Occult abdominal trauma (OAT) screening with transaminases, followed by abdominal computed tomography (CT) for transaminase values greater than 80 IU/L, has been recommended in cases of suspected physical abuse. This study aimed to evaluate case characteristics associated with OAT evaluation and determine OAT prevalence in these children.

Methods: Injured children aged younger than 60 months undergoing Child Abuse Pediatrics (CAP) consultation for suspected physical abuse from February 2021 to May 2023 were identified in CAPNET, a multicenter research network. Children with symptoms or signs of intra-abdominal injury were excluded. We identified case characteristics associated with transaminase screening …

An Innovative Approach To Assessing The Psychosocial Impacts On Liver Transplant Recipients: The Prediction-By-Correspondence Analysis, Se-Kang Kim, Rachel A Annunziato

Faculty, Staff and Students Publications

Background: Innovative analytic techniques are applied to the psychological functioning of liver transplant (LT) recipients to comprehend its effect on post-transplant survival, hypothesizing that adherence will be predicted by psychosocial functioning.

Methods: The psychosocial functioning of 248 LT recipients (88 females) aged 19 to 74 is assessed using the Stanford Integrated Psychosocial Assessment for Transplantation (SIPAT). In addition, the Medication Level Variability Index (MLVI) and biopsy-proven rejection are utilized to evaluate successful adherence. The Z-scores of the SIPAT scores are used to transform them into an ordinal variable with excellent, good, minimally acceptable, and poor categories. We employ a modified …

Recessive Loss-Of-Function Variants In Dph1 Identified As The Molecular Cause In A Sibling Pair Previously Diagnosed With Fine-Lubinsky Syndrome, Emily R Waskow, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott

Faculty, Staff and Students Publications

Fine-Lubinsky syndrome is a rare clinically defined syndrome sometimes referred to as brachycephaly, deafness, cataract, microstomia, and impaired intellectual development syndrome. Here we provide a clinical and molecular update for a sibling pair diagnosed with Fine-Lubinsky syndrome. An extensive genetic work-up, including chromosomal microarray analysis and quad exome sequencing, was nondiagnostic. However, a research reanalysis of their exome sequencing data revealed that both were homozygous for an intronic c.749+39G>A [NM_001383.6] variant in DPH1. RNAseq analysis performed on RNA from fibroblasts revealed significantly reduced expression of DPH1 transcripts suggestive of abnormal splicing followed by nonsense mediated mRNA decay. Since the …

A Natural Small Molecule Isoginkgetin Alleviates Hypercholesterolemia And Atherosclerosis By Targeting Acly, Zhidan Zhang, Meijie Chen, Yitong Xu, Zhihua Wang, Zhenghong Liu, Chenyang He, Fanshun Zhang, Xiaojun Feng, Xiayun Ni, Yuanli Chen, Jixia Wang, Xinmiao Liang, Zhifu Xie, Jingya Li, Maciej Banach, Jaroslav Pelisek, Yuqing Huo, Yunhui Hu, Paul C Evans, Li Wang, Xiao-Yu Tian, Jianbo Xiao, Yuhua Shang, Yijun Zheng, Xunde Xian, Jianping Weng, Suowen Xu

Faculty, Staff and Students Publications

Rationale: Atherosclerotic cardiovascular disease (ASCVD) represents the predominant cause of mortality and morbidity globally. Given the established role of hypercholesterolemia as a significant risk factor for ASCVD, the discovery of new lipid-lowering medications is of paramount importance. ATP citrate lyase (ACLY) is a crucial enzyme in cellular metabolism, providing acetyl-CoA as the building block for the biosynthesis of fatty acids and cholesterol. Consequently, it has emerged as a promising drug target for innovative treatments of lipid metabolic disorders.

Methods: Virtual screening of a natural product library was performed to identify small-molecule ACLY inhibitors, leading to the discovery of isoginkgetin (ISOGK). …

Intraocular Lens Power Calculation In Challenging Cases, Jack X Ma, Li Wang, Douglas D Koch

Faculty, Staff and Students Publications

In this article, we reviewed recently published papers of intraocular lens (IOL) power calculation in special eyes. In short eyes, accurate estimation of effective lens position is critical, and the ZEISS artificial intelligence IOL calculator produces the best outcomes. In long eyes, accuracy has been improved with axial length (AL) adjusted formulas such as the Wang-Koch AL adjustment and newer IOL formulas. In keratoconic eyes, hyperopic refractive outcomes increase with steeper keratometric values, and accuracy is poor in eyes with keratometric values ≥50.0 D. Two keratoconus-specific formulas (Barrett True K for keratoconus and Kane keratoconus) have been introduced. In eyes …

Tools And Methods For Cataract Recognition In Low-Resource Settings: A Narrative Review, Paulina N Truong, Elizabeth A Merlinsky, Nicholas C Maamari, Christina Y Weng, Andrew G Lee

Faculty, Staff and Students Publications

Cataracts are a leading cause of global blindness, with many low-resource populations having poor access to eye care. While much is known regarding surgical access and outcomes, less is understood about the initial detection of operable cataracts in low-resource settings. We performed a comprehensive literature review on existing and emerging cataract screening methods in low- and middle-income countries (LMICs). The search keywords were "cataract detection, diagnosis, assessment, and evaluation in low- and middle- income countries". 1,825 articles were identified and 62 were selected for final inclusion comprising reviews, meta-analyses, and original research studies. Only 12 studies proposed new cataract screening …

Genetic Newborn Screening For Retinoblastoma: A Belgian Initiative Baby Detect, Daniel A Rodriguez, Alex Song, Anshul Bhatnagar, Christina Y Weng

Faculty, Staff and Students Publications

Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associated with 165 genetic conditions, and includes RB1, linked to retinoblastoma, the only oncological disease tested for. Germline RB1 mutations concern around 50% of all retinoblastoma cases and 100% of the most severe, bilateral cases. Ninety percent of them occur de novo, which delays the diagnosis by about a year with subsequent loss of vision and sometimes the eye itself. Detecting children with germline RB1 mutation at …

Diagnostic Delay In Type I Autoimmune Pancreatitis: Clinical, Imaging, Endoscopic And Histologic Predictors Of Timely Diagnosis, Andres Urias Rivera, Travis Josephs, Shilpa Jain, Wasseem Skef, Tara Keihanian, Salmaan Jawaid, Wasif Abidi, Kalpesh Patel, Mohamed O Othman, Fares Ayoub

Faculty, Staff and Students Publications

Background: The diagnosis of autoimmune pancreatitis (AIP) can be challenging due to nonspecific symptoms, low sensitivity of serologic markers, and some overlap in presentation with pancreatic ductal adenocarcinoma (PDAC). We aimed to quantify delays in the diagnosis of AIP and identify factors associated with diagnostic delay.

Methods: This was a single-center retrospective study between 2013 and 2023 of adult patients diagnosed with type 1 AIP based on HISORt criteria. Patients were compared to a randomly selected group of controls with PDAC. Data on clinical presentation, lab results, imaging, procedures, and initial treatment regimen were collected. Timing to diagnosis and predictive …

The Reprogramming Factor Klf4 In Normal And Malignant Blood Cells, H Daniel Lacorazza

Faculty, Staff and Students Publications

The Krüppel-like factor 4 (KLF4) is an evolutionarily conserved zinc finger transcription factor that regulates cellular processes in stem cells, epithelial cells, and immune blood cells by controlling gene expression through genetic, epigenetic, and chromatin remodeling. The landmark 2006 publication identified KLF4 as one of the factors involved in reprogramming differentiated cells into pluripotent stem cells, sparking increased interest in KLF4 research a decade after its discovery, particularly in the fields of stem cell research, epithelial cell biology, endothelial cell function, and tumorigenesis. Over the years, KLF4 has emerged as a key transcription factor in modulating innate and adaptive immunity, …

Prevalence Of Abuse-Specific Injuries In Infants With Prior Injury Evaluated For Abuse, Nara Cho, Kristin G Crichton, Sara Helwig, Krista K Wheeler, Rachel M Stanley, Megan M Letson, Kristine A Campbell, Angela N Bachim, Colleen J Bressler, Carmen M Coombs, Lori Frasier, Nicole Johnson, Sara Kilbride, Jan Leonard, Daniel M Lindberg, Noelle T Tran, Joanne N Wood, Farah W Brink

Faculty, Staff and Students Publications

Background and objectives: Physical abuse is a common cause of morbidity in infants but is often missed in those with medically minor injuries, increasing the risk for escalating violence. Our objective was to compare the prevalence of abuse-specific injuries among infants with and without prior injuries.

Methods: This is a retrospective, multicenter study of infants (aged < 12 months) undergoing child abuse pediatrics provider (CAP) consultation for suspected physical abuse between 2/2021 and 12/2022 at 10 participating US centers. Encounters were dichotomized into those with and without history of prior injury. The groups were compared for rates of diagnostic screening and prevalence of abuse-specific injuries. The association of prior injuries with identification of abuse-specific injury was assessed using logistic regression controlling for demographics and presence of prior injury.

Results: We identified 2352 eligible encounters (median age: 4.2 months), of which 13% had a history of prior injury. In infants who underwent diagnostic testing, injury identification was significantly higher in those with prior injury (45% vs 22%, P < .05). Adjusting for patient characteristics, the presence of prior injury in infants was associated with higher odds of at least 1 type of abuse-specific injury being identified, compared with those without prior injury (adjusted odds ratio = 2.81, 95% CI = 2.10-3.76).

Conclusion: Infants with prior injury …

In Response To Comment On "Older And Better: A Narrative Review Of Successful Aging And Adaptation To Pain In Late Life", Emanuel Narcis Husu

Faculty, Staff and Students Publications

No abstract provided.