Medical Sciences Commons^™

Rare Pediatric Venolymphatic Malformations: Pericardial Cyst Mimickers, Shelby E Walcott, Joseph Burns, Juan Pablo Sandoval Jones, Neil Cambronero, David Brennen, Thomas M Glenn, Betul Yilmaz Furtun

Faculty, Staff and Students Publications

Background: Pericardial cystic masses are rare, and exceedingly so in pediatrics. The clinical course of such masses in children is poorly described.

Case summary: We report 2 cases in 3- and 7-year-old children. Both were initially thought to represent pericardial cysts on imaging, but surgical excision and histopathology confirmed diagnoses of a venolymphatic malformation and an epicardial cyst, respectively. The first patient presented with abdominal pain, and the second patient was asymptomatic. Both recovered well after an uncomplicated surgical intervention.

Discussion: A small number of patients with pericardial masses will have symptoms thought to be related to compression of adjacent …

Rare Pediatric Venolymphatic Malformations: Pericardial Cyst Mimickers, Shelby E Walcott, Joseph Burns, Juan Pablo Sandoval Jones, Neil Cambronero, David Brennen, Thomas M Glenn, Betul Yilmaz Furtun

Faculty, Staff and Students Publications

Background: Pericardial cystic masses are rare, and exceedingly so in pediatrics. The clinical course of such masses in children is poorly described.

Case summary: We report 2 cases in 3- and 7-year-old children. Both were initially thought to represent pericardial cysts on imaging, but surgical excision and histopathology confirmed diagnoses of a venolymphatic malformation and an epicardial cyst, respectively. The first patient presented with abdominal pain, and the second patient was asymptomatic. Both recovered well after an uncomplicated surgical intervention.

Discussion: A small number of patients with pericardial masses will have symptoms thought to be related to compression of adjacent …

Prevalence Of Hyperprolactinemia And Its Association With Menstrual Abnormalities And Hypothyroidism Among Infertile Women: A Cross-Sectional Study From Saudi Arabia, Aseel Y. Alwahhabi, Rahaf H. Labban, Maryam Y. Alshaikh, Amal M. Alanazi, Samaher S. Alfaraj, Fahad M. Alsalman, Hayat A. Alrabiea

Saudi Medical Journal

Objectives: To determine the prevalence of hyperprolactinemia among infertile women and assess its association with menstrual irregularities and hypothyroidism in a tertiary-care setting in Riyadh, Saudi Arabia.

Methods: A cross-sectional study was conducted between September 2022 and August 2023 at the Reproductive Endocrinology and IVF Unit, King Abdulaziz Medical City, Riyadh. Electronic medical records of 480 infertile women who met the inclusion criteria were reviewed. Data on demographic characteristics, infertility type, thyroid status, and serum prolactin levels were collected and analyzed using SAS version 9.4. Statistical significance was set at p < 0.05.

Results: Hyperprolactinemia was identified in 27.7% of infertile women, …

Polysomnographic And Clinical Characteristics Of Narcolepsy In Saudi Arabia: A 12-Year Retrospective Study, Banan Almalki, Omar Kanbr, Ghufran Bin Afeef, Shaimaa Hawsawi, Ranya Alshumrani, Faris Alhejaili, Siraj Wali

Saudi Medical Journal

Objective: To evaluate the clinical features, polysomnographic findings, and therapeutic outcomes of narcolepsy type 1 and type 2 patients in Kingdom of Saudi Arabia (KSA). Narcolepsy is a neurological condition marked by excessive daytime sleepiness (EDS) and associated symptoms, including cataplexy and disrupted nighttime sleep. Data on narcolepsy in KSA are still limited.

Methods: Forty-three patients diagnosed with narcolepsy from 2012 to 2024 were included in this retrospective study. Diagnosis followed the International Classification of Sleep Disorders criteria and incorporated clinical features, the epworth sleepiness scale (ESS), overnight polysomnography (PSG), and multiple sleep latency testing (MSLT). Data on demographics, clinical …

Lived Experiences And Perceptions Of People With Knee Osteoarthritis In Saudi Arabia: A Qualitative Study, Sultan A. Alanazi, Amjad S. Alhabishi, Rana O. Alawafi, Samia A. Alamrani

Saudi Medical Journal

Objectives: To explore how people with knee osteoarthritis (OA) in Kingdom of Saudi Arabia (KSA) perceive and live with their condition, how they self-manage symptoms, and how they experience physiotherapy and rehabilitation services.

Methods: A descriptive qualitative study was conducted using semi-structured interviews. Interviews were undertaken with individuals with knee OA who are aged ≥ 45 years. Interviews were audio-recorded, transcribed verbatim, de-identified and analyzed using reflexive thematic analysis with investigator triangulation.

Results: Twenty-seven (19 females) participants aged 45–74 years (mean = 61) from different regions of KSA shared lived experiences of knee OA. Four themes describing participants' experiences …

Prevalence And Risk Factors Of Surgical Site Infections In Hospitals Across Al Madinah Al Munawwarah, Saudi Arabia: A Retrospective Cohort Study, Atheer M. Aljohani, Danah O. Sandaqji, Rana A. Alahmadi, Raha Z. Ishqi, Manal A. Alanazi, Shouq N. Aloufi, Husain I. Sandugji

Saudi Medical Journal

Objectives: To determine the prevalence of surgical site infection (SSI) and identify associated risk factors in hospitals in Al Madinah Al Munawwarah, Saudi Arabia.

Methods: We conducted a retrospective cohort study of 363 adult surgical patients from major hospitals in Madinah between 2023 and 2024. We analyzed medical records using descriptive statistics, bivariate analysis, and multivariable logistic regression.

Results: The overall SSI rate was 5.2% (95% confidence interval [CI]: 3.3–7.9%). Infection types comprised superficial incisional (57.9%), deep incisional (36.8%), and organ/space infections (5.3%). Significant risk factors included younger age (adjusted odds ratio [aOR] = 0.94 per year, p = 0.014), …

A Predictive Model For Cytomegalovirus Infection Using Routine Hematological And Biochemical Parameters: A Pilot Study, Ahmad A. Shaikh, Mofareh H. Alabdaly, Nabil A. Ageeli, Sultan Z. Alasmari, Adel M. Abo Mansour, Mohammed H. Makkawi

Saudi Medical Journal

Objective: To examine whether hematological and biochemical parameters assist in diagnosing cytomegalovirus (CMV) infections and differentiating between CMV-G and CMV-M. Cytomegalovirus causes distinct hematological changes that can serve as markers for diagnosis.

Methods: A retrospective analysis was conducted on 54 patients infected with CMV (25 CMV-G and 29 CMV-M) and 82 healthy controls. Age, gender, and routine hematological and biochemical parameters were evaluated. Receiver operating characteristics (ROC) analysis and logistic regression were used for data analysis.

Results: In comparison to controls, laboratory findings of patients with CMV-G revealed characteristic decreases in red blood cells (RBC), hemoglobin (HGB), hematocrit (HCT), and …

Safety And Efficacy Of Adalimumab Biosimilar In Psoriasis And Hidradenitis Suppurativa: A Clinical Experience, Raneem H. Najjar, Sarah O. Alrashid, Rnda F. Almahfouz, Hadeel T. Alzahrani, Majed Y. Aleissa, Alanoud R. Hakami

Saudi Medical Journal

Objectives: To evaluate the clinical experience, safety, and effectiveness of adalimumab biosimilars in patients with psoriasis and hidradenitis suppurativa.

Methods: We conducted a retrospective, single-center observational study between March and September 2024 using electronic medical records from King Abdulaziz Medical City and King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia. Pediatric and adult patients with psoriasis or hidradenitis suppurativa who switched to adalimumab biosimilars between 2016 and 2022 were included. Variables included demographics, disease characteristics, prior therapies, biosimilar use, and adverse events.

Results: A total of 57 (93% adults; 50.9% female) patients were included. Obesity was present in 35.1%, and …

Immunoinformatic Based Development Of A Multi-Epitope Precision Vaccine Targeting Glycoprotein And Rdrp Of Oropouche Virus: An Innovative Approach To Counter Emerging Public Health Threats, Mohammed Alissa, Muhammad Suleman

Saudi Medical Journal

Objectives: To design high immunogenic vaccine against the Oropouche virus (OROV). The OROV is a neglected arbovirus endemic to Central and South America, causes oropouche fever, which can progress to severe complications such as meningitis and hemorrhagic symptoms.

Methods: We utilized immunoinformatic and molecular dynamic simulation approaches to design highly immunogenic vaccines against OROV. This observational study, carried out between January and August 2024 in Saudi Arabia. As it involves an in-silico method, ethical consent was not required.

Results: Docking analysis confirmed the stable interaction of the designed vaccines with human toll-like receptors (TLR)-3, producing binding scores of –300.78, –306.19, …

Comparison Of The Effects Of Incubator And Radiant Environments On Physiological Criteria And Pain-Stress Levels During Heel Lance In Neonates In The Neonatal Intensive Care Unit: A Randomized Controlled Trial, Sezin Gürsu, Birsen Karaca Saydam, Oğuzhan Kalkanl\I

Saudi Medical Journal

Objectives: To compare the effects of incubator and radiant heat on physiological criteria and pain-stress levels during heel prick procedures in newborns in the neonatal intensive care unit (NICU).

Methods: This randomized controlled quasi-experimental study was conducted between June and December 2023 with newborns diagnosed with IHB hospitalized at a NICU in Turkey. Prior to the heel prick procedure, 72 newborns (gestational age: 37–41 weeks) were randomly and equally assigned to either a radiant heater or an incubator setting. Physiological parameters (temperature, SpO₂, heart rate [HR]) and pain-stress scores of the newborns were measured and compared in both …

Etiology, Management, And Outcomes Of Hospitalized Heart Failure Patients: A Single-Center Study, Adil I. Jumani, Ghada A. Rashwan, Hadiza O. Ibrahim, Safaa M. Almohdar, Khaled M. Alfakih

Saudi Medical Journal

Objectives: To describe the clinical characteristics, etiologies, management patterns, and outcomes of hospitalized heart failure patients in a tertiary care military hospital in United Arab Emirates (UAE), and to benchmark guideline directed medical therapy (GDMT) uptake and care models against regional and international registries.

Methods: We retrospectively reviewed all consecutive patients admitted with a primary diagnosis of heart failure between January and December 2024, at Zayed Military Hospital, UAE. Clinical data were extracted from electronic medical records. The GDMT adherence was assessed according to the 2022 American Heart Association (AHA)/ American College of Cardiology (ACC) and 2023 European Society of …

Identification Of Risk Factors For Renal Insufficiency In Primary Membranous Nephropathy, Lin Qi, Bolong Fang, Xiao Fang, Yamin Yu, Yunqiang Wang

Saudi Medical Journal

Objectives: To identify possible evidence linking certain characteristics associated with primary membranous nephropathy (PMN) to renal failure progression in patients diagnosed with PMN and to establish probable evidence of an association between PMN and other risk factors leading to end-stage renal failure.

Methods: A historical investigation was carried out including 436 subjects with PMN, with or without renal insufficiency, who were treated at the No. 82 Division Defense Medical Center of the People's Liberation Army and Liaocheng People's Medical Center during January 2020 and December 2023. Binary logistic regression study was applied to determine possible hazard elements. Binary logistic regression …

Evaluation Of Raqeem Health Information System In Primary Healthcare Centers In Makkah, Saudi Arabia, Using The Delone And Mclean Information System Success Model, Ali M. Alzahrani, Holly C. Felix

Saudi Medical Journal

Objectives: To evaluate the implementation of Raqeem, a new Electronic Health Information Systems (EHIS) implemented at primary healthcare centers (PHCs) in Makkah. Implementing EHIS requires huge investments, making evaluation of systems success important.

Methods: In this cross-sectional survey design study, a developed questionnaire guided by DeLone and McLean Information System success model (D&M model) was used to collect data from PHCs' providers. Descriptive and structural equation modeling (SEM) techniques were performed to describe and examine the association between the model's constructs and assess Raqeem success.

Results: A total of 490 providers submitted completed records and were included in this study. …

Molecular Mechanisms Of Diffuse Large B-Cell Lymphoma And The Complexities Of Tumor Development, Wael I. Alzahrani

Saudi Medical Journal

Diffuse large B-cell lymphoma (DLBCL), the most prevalent aggressive non-Hodgkin lymphoma, exhibits substantial molecular heterogeneity and arises from germinal center or post-germinal center B cells through recurrent genetic and epigenetic dysregulation of critical signaling pathways. Aberrations involving BCL6, MYC, MYD88, and components of B cell receptor and nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κ B) signaling play central roles in lymphomagenesis, treatment resistance, and clinical outcomes. Gene expression profiling has defined major molecular subgroups in DLBCL, including germinal center B cell–like and activated B cell–like tumors, that show distinct pathogenesis and prognosis. High-risk entities, such as double- and …

Integrating Traditional And Complementary Medicine Into Saudi Primary Care: A Literature Review In Light Of The Who 2025–2034 Strategy, Abeer Al Shahrani

Saudi Medical Journal

Complementary and alternative medicine (CAM) is widely practiced in Saudi Arabia, particularly for health promotion and chronic diseases management. Despite cultural acceptance and high utilization, CAM remains largely unintegrated within the formal healthcare system, particularly in primary care settings. The newly adopted World Health Organization (WHO) Traditional, complementary, and integrative medicine (TCIM) Strategy 2025–2034 offers a global framework for evidence-based, culturally appropriate integration of TCIM into national systems. This review evaluates the status of CAM in Saudi Arabia in light of strategic objectives outlined in the WHO Strategy: building the evidence base, ensuring quality and safety, integrating into health systems, …

Interleukin-6 Inhibition For Patients With Acute Myocardial Infarction: A Systematic Review And Meta-Analysis, Mohammed Y. Alasmary, Mohammed J. Almalki, Faisal H. Almalki, Waleed D. Khubzan, Mohammed H. Rajab, Mohammed S. Almalki, Hussam A. Almalki, Omar M. Alsuwat, Hussam M. Alghannami

Saudi Medical Journal

Objective: To explore the outcomes associated with interleukin-6 (IL-6) pathway blockade, using tocilizumab, in patients with ST-elevation myocardial infarction (STEMI) and non (NSTEMI). Acute myocardial infarction (AMI) denotes myocardial necrosis due to ischemia and presents in distinct electrocardiographic phenotypes. Inflammation driven by IL-6 contributes to ischemia-reperfusion injury, with tocilizumab showing promise in reducing myocardial damage and improving outcomes.

Methods: This work followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Framework and was registered in international prospective register of systematic reviews (PROSPERO). Relevant studies were identified through structured searches of PubMed, MEDLINE, the Cochrane Library, and Google Scholar up …

Effect Of Anesthetic Agents On Middle Ear Pressure: Systematic Review And Meta-Analysis, Nasser Almujaiwel, Reem Alkublan, Latifah Almakoshi

Saudi Medical Journal

Objective: To assess and compare the effects of these agents on middle ear pressure (MEP). Anesthetic agents can significantly alter MEP, which is a critical factor in middle ear surgeries that require stability to prevent complications. Different anesthetics, including inhalational and intravenous agents, have varying effects on MEP.

Methods: A systematic search was conducted across PubMed, Embase, the Cochrane Library, and Scopus, following preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines. Studies that evaluated MEP changes before and after anesthesia using tympanometry were included. Relevant data, such as anesthetic type, patient demographics, MEP measurements, and reported complications, were …

The Impact Of Exercise Intervention On Pulmonary And Physical Function In Patients With Cystic Fibrosis: A Comprehensive Systematic Review, Abdullilah Alghamdi, Muroj Al-Attas, Abrar Radhi, Amnah Alfaqih, Bashair Aljabri, Rawan Alharbi, Sumayyah Alsubaie, Raneem Aljawaied, Sarah Alenazi, Ahlam Mazi, Ebtehal Qulisy

Saudi Medical Journal

Objective: To evaluate the effect of various exercise interventions on lung function, specifically forced expiratory volume in 1 second (FEV₁), maximum inspiratory pressure (MIP), and maximum expiratory pressure (MEP), as well as on cardiorespiratory fitness (peak oxygen uptake [VO₂peak]), and muscle strength (handgrip strength). The review also considers factors such as patient adherence, follow-up duration, and statistical significance to inform clinical practice.

Methods: This systematic review followed preferred reporting items for systematic review and meta-analysis (PRISMA) guidelines and was prospectively registered in international prospective register of systematic reviews. PubMed, Google Scholar, OVID, and Web of Science …

Notch1 Acts As A Tumor Suppressor That Induces Early Differentiation In Head And Neck Cancer, Chenfei Huang, Shhyam Moorthy, Qiuli Li, Kazi M Ahmed, Kalil Saab, Defeng Deng, Jiping Wang, Xiayu Rao, Jiexin Zhang, Yuanxin Xi, Jing Wang, Zhiyi Liu, Noriaki Tanaka, David A Wheeler, Eve Shinbrot, Rami Saade, Curtis R Pickering, Tong-Xin Xie, Adel K El-Naggar, Abdullah A Osman, Kunal Rai, Patrick A Zweidler-Mckay, John V Heymach, Lauren A Byers, Faye M Johnson, Vlad C Sandulache, Jeffrey N Myers, Pedram Yadollahi, Mitchell J Frederick

Faculty, Staff and Students Publications

Inactivating NOTCH1 mutations in head and neck squamous cell carcinoma (HNSCC) were described over a decade ago, suggesting a tumor suppressor function - unlike its oncogenic role in other tumors. Today, much debate persists regarding a putative oncogenic role in HNSCC as well, with reports that NOTCH1 signaling drives tumor growth and a cancer stem cell (CSC) phenotype. In this work, comprehensive experiments unequivocally demonstrate that NOTCH1 is a tumor suppressor in HNSCC regardless of mutation or activation status and that it reduces CSC frequency. We developed a signature of NOTCH1 activation showing the pathway is associated with very early …

Safety And Synergy Of Finerenone And Empagliflozin In Lowering Blood Pressure, Rajiv Agarwal, Ricardo Correa-Rotter, Sankar D Navaneethan, Hiddo J L Heerspink, Matthew R Weir, Janet B Mcgill, Amy K Mottl, Masaomi Nangaku, Julio Rosenstock, Peter Rossing, Muthiah Vaduganathan, Charlie Scott, Li Li, Meike Brinker, Csaba P Kovesdy, Jennifer B Green, Johannes F E Mann

Faculty, Staff and Students Publications

Background: This secondary analysis of the CONFIDENCE (combination effect of fInerenone and empagliflozin in participants with chronic kidney disease and type 2 diabetes using a UACR endpoint) trial (REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT05254002) assessed systolic blood pressure (SBP) changes with empagliflozin/finerenone combination therapy versus monotherapy in people with chronic kidney disease and type 2 diabetes across baseline SBP categories. We assessed SBP response predictors and whether early (day 30) SBP changes mediate urinary albumin-to-creatinine ratio reductions.

Methods: Participants (n=800) were stratified by baseline SBP (< 130 mm Hg; ≥130 mm Hg). Outcomes included SBP response (≥10 mm Hg reduction from baseline at day 180) and longitudinal SBP changes, analyzed by linear mixed-effects models and logistic regression. Causal mediation analysis, a secondary exploratory analysis, evaluated the effect of day 30 SBP change on day 180 urinary albumin-to-creatinine ratio reduction.

Results: At baseline, 532 (66%) participants had SBP ≥130 mm Hg; 268 (34%) …

The Aggregated Latent Profile Index: Measuring Person Profile Differentiation Within A Bootstrap-Validated Latent Profile Space, Se-Kang Kim

Faculty, Staff and Students Publications

Multivariate assessment profiles contain two conceptually distinct sources of variation: overall level and profile shape. Existing approaches recover some aspects of this structure, but none jointly establishes the replicability of latent pattern dimensions and provides a principled, population-referenced summary of person profile differentiation independent of overall level. We introduce the Aggregated Latent Profile Index (ALPI), a variance-weighted Euclidean distance that quantifies the degree to which an individual’s profile departs from a flat population reference within a bootstrap-validated latent profile space. ALPI is derived from the Aggregated Latent Profile Space (ALPS), a framework that combines parallel analysis with bootstrap stability diagnostics …

Global Burden Of Drug-Resistant Tuberculosis In Children: A Systematic Analysis For The Global Burden Of Disease Study, Xuhui Liu, Peierdun Mijiti, Lu Xia, Sylvia M Lacourse, Wulan Talafuhan, Alexander W Kay, Yang Yang, Huarui Liu, Dan Ye, Leonardo Martinez, Shuihua Lu, Adong Shen, Anna M Mandalakas, Feng Li, Christoph Lange, Zhen Huang

Faculty, Staff and Students Publications

Background: Paediatric tuberculosis (TB), particularly drug-resistant TB (DR-TB), is associated with significant mortality. However, the global burden of childhood TB remains poorly understood.

Methods: We analysed incident cases, deaths, and age-standardised incidence and mortality rates among children (0-14 years) with multidrug-resistant/rifampicin-resistant tuberculosis (MDR/RR-TB) and extensively drug-resistant tuberculosis (XDR-TB) using the Global Burden of Disease (GBD) 2021 database. Data were stratified by age, sex, region, country, and HIV/AIDS status. Annual and average annual percentage changes were assessed using joinpoint regression analysis. Secondary analyses compared adult and paediatric TB trends in the End TB era and evaluated the potential impact of the …

Impact Of Lumen Origin And Gap Distance On Target Vessel Outcomes Following Fenestrated-Branched Endovascular Aortic Repair Of Postdissection Thoracoabdominal Aortic Aneurysms, Armin Tabiei, Jesse Chait, Andrea Vacirca, Randall R Demartino, Emanuel R Tenorio, Fahad Shuja, Dora Babocs, Guilherme B B Lima, Naveed Saqib, Gustavo S Oderich, Bernardo C Mendes

Faculty, Staff and Students Publications

Background: This study evaluated the role of target vessel (TV) lumen origin and fenestration gap (FG) distance between the endograft and the aortic wall on TV outcomes following fenestrated-branched endovascular aortic repair (FB-EVAR) for postdissection thoracoabdominal aortic aneurysms (PD-TAAAs).

Methods: A multicenter review of prospectively and retrospectively collected data of patients undergoing FB-EVAR for PD-TAAAs between 2013 and 2023 was performed. Lumen origin was retrospectively analyzed on preoperative imaging studies and classified as true lumen (TL) only, false lumen (FL) only, or both TL and FL. The FG distance was retrospectively measured on postoperative imaging studies and included as a …

The Relationship Between Psychological Stress And Sars-Cov-2 Nucleocapsid-Antibody Response Following Natural Infection: Longitudinal Findings From The Aegis Study, Erika T Beidelman, Ashley Judge, David B Allison, Stephanie Dickinson, Lilian Golzarri Arroyo, Anna L M Macagno, Michael J Ricciardi, Jon Macy, Stanley Perlman, Christina Ludema, Kevin C Maki, Molly Rosenberg

Faculty, Staff and Students Publications

Psychological stress can cause diminished immune response to infectious challenges. The extent this holds true during severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and the modifying effect of vaccination status is untested. We explored these relationships in a non-random sample standardized to the US adult population. Across 2178 participants in the Aegis study (2021-2022), we identified 507 eligible laboratory-confirmed SARS-CoV-2 infections. We estimated the natural log of nucleocapsid-binding antibody absorbance (N-antibody) at study visits up to 225 days following a positive SARS-CoV-2 test. Linear mixed effects models were fit to estimate the association of baseline perceived stress and, separately, …

A Novel Qa Method For Adaptive Aperture Position Verification Of Proton Therapy System, Shuxin Fan, Tiezhi Zhang, Xiandong Zhao, Winter Green, Baozhou Sun, Tianyu Zhao, Yao Hao

Faculty, Staff and Students Publications

Accurate Adaptive Aperture (AA) leaf positioning is essential for some proton therapy systems to ensure precise dose delivery and patient safety. However, conventional quality assurance (QA) methods can be suboptimal or inefficient for routinely assessing the dynamic nature of AA in the Mevion S250i HYPERSCAN system. This study introduces a novel automated QA method to verify AA positions utilizing a scintillation detector. A specialized QA plan consisting of 7 rectangular fields was generated in the RayStation treatment planning system (TPS) and delivered using the Mevion S250i HYPERSCAN proton therapy system. Dose distributions were measured with an IBA Lynx PT scintillation …

Impact (Immune Monitoring And Phenotype Assessment Of Clinical Trajectory) For Patients With Inborn Errors Of Immunity From The Primary Immune Deficiency Treatment Consortium (Pidtc), Danielle E Arnold, Hesham Eissa, Elizabeth Dunn, Geoffrey D E Cuvelier, Nicola A M Wright, Rebecca A Marsh, Suhag Parikh, Blachy Davila Saldana, Mark T Vander Lugt, Rosa Bacchetta, Lisa Forbes Satter, Shanmuganathan Chandrakasan, Erinn Kellner, Eric J Allenspach, Erica G Schmitt, Brent Logan, Lauri Burroughs, Morton J Cowan, Linda M Griffith, Luigi Notarangelo, Sung-Yun Pai, Michael A Pulsipher, Christopher C Dvorak, Elie Haddad, Jennifer M Puck, Troy R Torgerson, Jennifer W Leiding, Jennifer Heimall, Alice Y Chan

Faculty, Staff and Students Publications

Background: Evaluating natural history and outcomes of rare inborn errors of immunity (IEIs) has been challenging due to the diverse disease manifestations and lack of standardized data.

Objective: To develop a set of standardized, quantitative, generalizable data collection modules to measure organ dysfunction in IEIs, modeled on the previously validated Common Terminology Criteria for Adverse Event system for grading treatment toxicity.

Methods: Disease conditions were organized by organ system. Experts from the Primary Immune Deficiency Treatment Consortium identified essential features of severe combined immunodeficiency, chronic granulomatous disease, Wiskott-Aldrich syndrome, and primary immune regulatory disorders and compared these to Common Terminology …

Complement Activation In Maternal And Placental Pathology Of Preeclampsia, Manu T Banadakoppa, Madhulatha S Chauhan, Moises J Tacam, Allyson W Nevins, Antonio H Ruano, Simone H Ruano, Jon A Fuson, Chandra Yallampalli

Faculty, Staff and Students Publications

Background: Preeclampsia is a multifactorial, pregnancy-related disorder characterized by new-onset hypertension and proteinuria, with distinct early- and late-onset forms. Although complement dysregulation has been implicated in the pathogenesis of preeclampsia, its causal role remains unclear. In mice, Crry (complement receptor 1-related protein Y) functions as a critical complement regulator at the fetal-maternal interface. Because complete Crry deficiency is embryonically lethal, direct in vivo investigation of complement activation in pregnancy has been challenging.

Methods: We generated a placenta-specific, doxycycline-inducible short hairpin RNA mouse model in which Crry expression can be downregulated in a dose-dependent manner. This system employs Cyp19-driven Cre recombinase …

Activated Dorsomedial Hypothalamic Astrocytes Regulate Feeding Behavior, Bella M. Lisenby

Honors Projects

The dorsomedial hypothalamus (DMH) region of the brain has been shown to be important for anticipatory feeding activity and play a role in restricting excessive food intake. In obese animals that overconsume calories, astrocytes within the DMH exhibit intracellular signaling changes indicative of cellular activation. Because astrocytes are known to influence neuronal function, we hypothesize that activated astrocytes regulate behavior. In the current study, we use chemogenetics combined with stereotaxic surgery to assess the contribution of astrocyte activity in the DMH towards metabolic behaviors.

Fentanyl Mediated Distortions Of Phasic Dopamine Release Dynamics Encoding Natural Reward And Aversive Processing In The Mammalian Mesolimbic Circuit, Oliver P. Culver Iv

MUSC Theses and Dissertations

Mu opioid receptor (MOR) agonists are recognized to disinhibit tonic dopamine (DA) in the ventral striatum (VS), contributing to opioid addiction and euphoria. However, MOR agonists can also inhibit non-drug reward-seeking, and disrupt conditioned responding to aversive stimuli, a phenomenon not readily explained by tonic DA disinhibition. We hypothesized that this effect could be due in part to disruption of phasic DA responses to conditioned stimuli (CS) which critically shape and maintain behaviors during naturalistic reward and aversive processing. Because MOR effects on CS-evoked phasic DA are largely unexamined, we conducted in vivo fiber photometric recordings in water-deprived male and …

A Multi-Country Community Of Practice To Strengthen Quality Improvement In Low- And Middle-Income Countries: A Quality Improvement Program Description, Samhita Bhargava, Heather A Haq, Brodus A Franklin, Elizabeth Davis, Florence Anabwani-Richter, Thobile Bhembe, Lindokuhle P Dlamini, Makhosazana Dlamini, Andy Chapola, Nomsa Kafumba, Chisomo Mzandu Zinyemba, Menard Bvumbwe, Kyakuwa Richard Jjuuko, Jacqueline Balungi Kanywa, Dithan Kiragga, Andreas Boy Isaac, Esther Makhalanyane, Lwamba Nyembo, Retselisitoe Mahlaha, John T Farirai, Eunice W Ketang'enyi, Andrea E M Imsen, Iuliana Costas, Susan B Torrey

Faculty, Staff and Students Publications

Background/objectives: Quality improvement (QI) is widely used in global health to improve patient outcomes, reduce costs, and strengthen service delivery. The Texas Children's Global Health Network (TCGHN) includes nine independent non-governmental organizations supporting healthcare in low- and middle-income countries (LMICs), with pediatric HIV clinical centers of excellence in six countries in sub-Saharan Africa (SSA), supported technically by Baylor College of Medicine. We describe the development of a virtual QI Community of Practice (QICoP) to connect geographically dispersed teams and strengthen local QI capacity.

Methods: In 2022, QI and global health experts convened to design the QICoP and assess site readiness. …