Digital Commons Network^™

Alterations Of The Upper Respiratory Microbiome Among Children Living With Hiv Infection In Botswana, Sweta M Patel, John Farirai, Mohamed Z Patel, Sifelane Boiditswe, Leabaneng Tawe, Shimane Lekalake, Mogomotsi Matshaba, Andrew P Steenhoff, Tonya Arscott-Mills, Kristen A Feemster, Samir S Shah, Nathan Thielman, Coleen K Cunningham, Lawrence A David, David M Murdoch, Matthew S Kelly

Faculty, Staff and Students Publications

Children living with HIV (CLWH) are at high risk of colonization and infection by respiratory pathogens, though this risk can be reduced by other microbes in the upper respiratory microbiome. The impact of HIV infection on the pediatric upper respiratory microbiome is poorly understood, and we sought to address this knowledge gap by identifying associations between HIV infection and the nasopharyngeal microbiomes of Batswana children. We enrolled Batswana CLWH (< 5 years) and age- and sex-matched HIV-exposed, uninfected and HIV-unexposed, uninfected children in a cross-sectional study. We used shotgun metagenomic sequencing to compare nasopharyngeal microbiomes by HIV status. Among the 143 children in this study, HIV and HIV-associated immunosuppression were associated with alterations in nasopharyngeal microbiome composition, including lower abundances of Corynebacterium species associated with resistance to bacterial pathogen colonization. These findings suggest that the upper respiratory microbiome may contribute to the high risk of respiratory infections among CLWH.

Estrogen-Related Receptor Alpha Promotes Skeletal Muscle Regeneration And Mitigates Muscular Dystrophy, Thi Thu Hao Nguyen, Ya Xiang Huang, Svitlana Poliakova, Citu Citu, Eira Mann, Danesh H Sopariwala, Zhongming Zhao, Ashok Kumar, Vihang A Narkar

The Brown Foundation: Institute of Molecular Medicine

Skeletal muscle regeneration in chronic muscle diseases such as Duchenne Muscular Dystrophy (DMD) has remained clinically unsurmountable. Estrogen‐related receptor alpha (ERRα) plays a critical role in adult skeletal muscle metabolism and exercise fitness. Whether ERRα activation can drive muscle regeneration and mitigate dystrophy in DMD is not known. We have investigated ERRα signaling in pre‐clinical models of acute muscle injury and DMD. ERRα is induced in differentiating C2C12 myoblast and regenerating muscle. ERRα silencing suppressed proliferation and differentiation in C2C12 myoblasts. RNA sequencing revealed that angiogenic factor and proliferation genes were downregulated by ERRα knockdown in proliferating cells, whereas oxidative …

Introducing Mcodegpt As A Zero-Shot Information Extraction From Clinical Free Text Data Tool For Cancer Research, Kai Zhang, Tongtong Huang, Bradley A Malin, Travis Osterman, Qi Long, Xiaoqian Jiang

Faculty, Staff and Student Publications

Background: The vast amount of natural language clinical notes about patients with cancer presents a challenge for efficient information extraction, standardization, and structuring. Traditional NLP methods require extensive annotation by domain experts for each type of named entity and necessitate model training, highlighting the need for an efficient and accurate extraction method.

Methods: This study introduces a tool based on the Large Language Model (LLM) for zero-shot information extraction from cancer-related clinical notes into structured data aligned with the minimal Common Oncology Data Elements (mCODE™) structure. We utilize the zero-shot learning capabilities of LLMs for information extraction, eliminating the need …

Twenty Minutes Of Corsi Block Tapping Task Training Does Not Improve Mental Rotation In Adults With Stroke, Sarah A. Kettlety, Giuliet L. Kibler, Andrew Hooyman, Christina K. Holl, Sydney Y. Schaefer, Kristan A. Leech

Physical Therapy Faculty Articles and Research

Background: Visuospatial function is commonly impaired post-stroke and is associated with motor learning and recovery. A single, twenty-minute Corsi Block Tapping Task (CBTT) training session improved visuospatial function in young neurotypical adults; however, it is unclear whether this training would improve visuospatial function in adults with stroke.

Objective: To understand if a single, twenty-minute CBTT training session improved visuospatial function in adults with stroke compared to a no-training control group of adults with stroke.

Methods: Participants post-stroke were assigned to one of two groups. The training group completed twenty minutes of computerized CBTT training. The control group completed a survey …

Evaluation Of Hypolipidemic And Hypoglycemic Effects Of Dillenia Indica L. On Alloxan-Induced Diabetic Rats, Md Mahfuj Alam Siddiq

Student Scholarship

Context: Dillenia indica L. a tropical fruit-bearing plant native to South and Southeast Asia, has attracted scientific interest due to its rich phytochemical composition and potential therapeutic benefits in managing diabetes, lipid disorders, and oxidative stress. Objective: The objective of this study was to investigate the potential antidiabetic and lipid-lowering properties of D. indica fruit and bark extracts in a rat model of alloxan-induced type 2 diabetes. Methods: Diabetes was induced in rats using an intraperitoneal injection of alloxan (160 mg/kg) after a 12-hour fast. The chloroform fractions of D. indica fruit and bark (200 mg/kg) were administered intraperitoneally, with …

Vaccine Effectiveness Against Influenza A(H1n1), A(H3n2), And B-Associated Hospitalizations, United States, 1 September 2023 To 31 May 2024, Nathaniel M Lewis, Jennie H Kwon, Et Al.

2020-Current year OA Pubs

BACKGROUND: The 2023-2024 influenza season included sustained elevated activity from December 2023 to February 2024 and continued activity through May 2024. Influenza A(H1N1), A(H3N2), and B viruses circulated during the season.

METHODS: During 1 September 2023 to 31 May 2024, a multistate sentinel surveillance network of 24 medical centers in 20 US states enrolled adults aged ≥18 years hospitalized with acute respiratory illness. Consistent with a test-negative design, cases tested positive for influenza viruses by molecular or antigen test, and controls tested negative for influenza viruses and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Vaccine effectiveness (VE) against influenza-associated hospitalization …

Dendritic Atoh1a+ Cells Serve As Merkel Cell Precursors During Skin Development And Regeneration, Evan W Craig, Erik C Black, Samantha Z Fernandes, Ahlan S Ferdous, Camille E A Goo, Sheridan M Sargent, Elgene J A Quitevis, Avery Angell Swearer, Nathaniel G Yee, Jimann Shin, Lilianna Solnica-Krezel, Jeffrey P Rasmussen

2020-Current year OA Pubs

Sensory cells often adopt specific morphologies that aid in the detection of external stimuli. Merkel cells encode gentle touch stimuli in vertebrate skin and adopt a reproducible shape characterized by spiky actin-rich microvilli that emanate from the cell surface. The mechanisms by which Merkel cells acquire this stereotyped morphology from keratinocyte progenitors are unknown. Here, we establish that dendritic Merkel cells (dMCs) express atonal homolog 1a (atoh1a), extend dynamic filopodial processes, and arise in transient waves during zebrafish skin development and regeneration. We find that dMCs share molecular similarities with both basal keratinocytes and Merkel cells, yet display mesenchymal-like behaviors, …

Tng260 Is A Small-Molecule Corest Inhibitor That Sensitizes Stk11-Mutant Tumors To Anti-Pd-1 Immunotherapy, Leanne G Ahronian, Soumyadip Sahu, Minjie Zhang, Ayushi S Patel, Ke Geng, Reshmee Bhattacharya, Gerald S Falchook, Jonathan W Goldman, Alexander I Spira, Salman R Punekar, David R Spigel, Judy S Wang, Ferdinandos Skoulidis, Janaye Stephens, Mary Meynardie, Jaylen M Powell, Alfonso Lopez, Michela Ranieri, Magdalena A Ploszaj, Yi Jer Tan, Yeuan Ting Lee, Yi Yu, Jiehui Deng, Ting Chen, Patrick Mccarren, Alice Tsai, Suleman S Hussain, Brian Doyon, Kenjie Amemiya, Jacques Ermolieff, Preksha Shahagadkar, Nikitha M Das, Lauren R Flynn, Julie A Shields, Laney Danielczyk, Brian J Mcmillan, Andre Mignault, Samuel R Meier, Hsin-Jung Wu, David J Guerin, Douglas A Whittington, Chengyin Min, Iga Sienczylo, John P Maxwell, Heather J Dibenedetto, Hideo Watanabe, Brian B Haines, Alan Huang, Adam Crystal, Jannik N Andersen, Xinyuan Wu, Kwok-Kin Wong

Faculty, Staff and Student Publications

Patients with non–small cell lung cancer (NSCLC) with loss of the tumor suppressor gene STK11 are resistant to immune checkpoint therapies like anti–PD-1. In this study, we conducted an in vivo CRISPR screen that identified histone deacetylase 1 as a target to reverse anti–PD-1 resistance driven by loss of STK11 and developed TNG260, a potent small-molecule inhibitor of the CoREST complex with selectivity exceeding previously generated inhibitors in this class in preclinical studies. Treatment with TNG260 led to increased expression of immunomodulatory genes in STK11-deficient cancer cells. When combined with anti–PD-1, TNG260 induced immune-mediated stasis and/or regression in STK11 …

Preoperative Brain Mapping Predicts Language Outcomes After Eloquent Tumor Resection, Matthew T Muir, Kyle Noll, Sarah Prinsloo, Hayley Michener, Jeffrey I Traylor, Vinodh A Kumar, Chibawanye I Ene, Sherise Ferguson, Ho-Ling Liu, Jeffrey S Weinberg, Frederick Lang, Brian A Taylor, Stephanie J Forkel, Sujit S Prabhu

Faculty, Staff and Student Publications

When operating on gliomas near critical language regions, surgeons risk either leaving residual tumor or inducing permanent postoperative language deficits (PLDs). Despite the advent of intraoperative mapping techniques, subjective judgments frequently determine important surgical decisions. We aim to inform data-driven surgery by constructing a non-invasive mapping approach that quantitatively predicts the impact of individual surgical decisions on long-term language function. This study included 79 consecutive patients undergoing resection of language-eloquent gliomas. Patients underwent preoperative navigated transcranial magnetic stimulation (TMS) language mapping to identify language-positive sites ("TMS points") and their associated white matter tracts ("TMS tracts") as well as formal language …

Role Of M6a Mrna Methylation In Plant Defense, Rakesh Srivastava, Niraj Lodhi

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

N6-methyladenosine (m⁶A) is the most abundant and dynamic RNA modification in eukaryotic messenger and non-coding RNAs, playing a pivotal role in the post-transcriptional regulation of gene expression. The coordinated actions of m⁶A writers, erasers, and readers influence transcript stability, immune activation, and pathogen suppression. Growing evidence indicates that m⁶A fine-tunes the expression of defense-related genes, modulates RNA processing events, and is frequently hijacked by pathogens and pests to promote virulence. Notably, the dual role of m⁶A in enhancing plant defense and facilitating pathogen adaptation highlights its significance in the host–pathogen arms race. …

21st-Century Dental Public Health: Revisiting The Role Of Community Water Fluoridation, Larry Williams, Preetha Kanjirath

Journal of the American College of Dentists

Community water fluoridation (CWF) has been celebrated as a major public health achievement, significantly reducing dental caries and narrowing oral health disparities. While historically effective, today’s fluoride exposure landscape has shifted, with multiple sources contributing to cumulative intake. This article reviews the scientific foundation, mechanisms of action, public health benefits, and ethical considerations surrounding CWF, alongside real-world outcomes from policy reversals. It examines contemporary concerns, including potential neurodevelopmental risks and vulnerable populations, and calls for recalibrated policies that maintain caries prevention benefits while monitoring total fluoride exposure to ensure safety in modern contexts.

Ethical Dilemmas Surrounding Community Water Fluoridation, Roopwant Kaur, Herminio Perez, Mark Moss

Journal of the American College of Dentists

Since the 1950s, community water fluoridation (CWF) has stood as a cornerstone of dental public health. However, a growing amount of public scrutiny necessitates reflection on the ethical basis for coming to a firm position on the topic. Aside from CWF, fluoride in the form of ingestible supplements has recently been identified as a concern by the US Food and Drug Administration. Indeed, it is challenging to wade through the facts, opinions, misinformation, and policy shifts. This article examines the ethical dilemmas that surround CWF through the lens of the American Dental Association (ADA) Principles of Ethics and Code of …

J Am Coll Dent 2025 92 1

Journal of the American College of Dentists

The Journal of the American College of Dentists (JACD) publishes scholarly articles, editorials, essays, and reflections addressing the ethical, professional, and social dimensions of dentistry. The Journal serves as a forum for advancing ethics, professionalism, leadership, and excellence within the dental community. By fostering dialogue across disciplines and perspectives, JACD provides readers with insights that encourage ethical, professional practice, lifelong learning, and service to the public, reinforcing dentistry’s commitment to advancing oral healthcare and the common good.

J Am Coll Dent 2021 88 4

Journal of the American College of Dentists

The Journal of the American College of Dentists (JACD) publishes scholarly articles, editorials, essays, and reflections addressing the ethical, professional, and social dimensions of dentistry. The Journal serves as a forum for advancing ethics, professionalism, leadership, and excellence within the dental community. By fostering dialogue across disciplines and perspectives, JACD provides readers with insights that encourage ethical, professional practice, lifelong learning, and service to the public, reinforcing dentistry’s commitment to advancing oral healthcare and the common good.

J Am Coll Dent 2021 88 1

Journal of the American College of Dentists

The Journal of the American College of Dentists (JACD) publishes scholarly articles, editorials, essays, and reflections addressing the ethical, professional, and social dimensions of dentistry. The Journal serves as a forum for advancing ethics, professionalism, leadership, and excellence within the dental community. By fostering dialogue across disciplines and perspectives, JACD provides readers with insights that encourage ethical, professional practice, lifelong learning, and service to the public, reinforcing dentistry’s commitment to advancing oral healthcare and the common good.

J Am Coll Dent 2019 86 4

Journal of the American College of Dentists

The Journal of the American College of Dentists (JACD) publishes scholarly articles, editorials, essays, and reflections addressing the ethical, professional, and social dimensions of dentistry. The Journal serves as a forum for advancing ethics, professionalism, leadership, and excellence within the dental community. By fostering dialogue across disciplines and perspectives, JACD provides readers with insights that encourage ethical, professional practice, lifelong learning, and service to the public, reinforcing dentistry’s commitment to advancing oral healthcare and the common good.

J Am Coll Dent 2019 86 2

Journal of the American College of Dentists

The Journal of the American College of Dentists (JACD) publishes scholarly articles, editorials, essays, and reflections addressing the ethical, professional, and social dimensions of dentistry. The Journal serves as a forum for advancing ethics, professionalism, leadership, and excellence within the dental community. By fostering dialogue across disciplines and perspectives, JACD provides readers with insights that encourage ethical, professional practice, lifelong learning, and service to the public, reinforcing dentistry’s commitment to advancing oral healthcare and the common good.

J Am Coll Dent 2017 84 4

Journal of the American College of Dentists

The Journal of the American College of Dentists (JACD) publishes scholarly articles, editorials, essays, and reflections addressing the ethical, professional, and social dimensions of dentistry. The Journal serves as a forum for advancing ethics, professionalism, leadership, and excellence within the dental community. By fostering dialogue across disciplines and perspectives, JACD provides readers with insights that encourage ethical, professional practice, lifelong learning, and service to the public, reinforcing dentistry’s commitment to advancing oral healthcare and the common good.

Scalable Biosynthesis And Recovery Of Poly-3-Hydroxybutyrate Produced From Cotton-Derived Glucose By Cupriavidus Necator, Ashley M. Clark, Lucia E. Gargano, Gabriella M. Fioravanti, Hannah M. Schapiro, Ron G. Kander

School of Design and Engineering Papers

To combat the growing issue of petroleum plastic waste, alternative bio-based polymers are being developed. Many of these biopolymers are made from bio-derived materials, or are biodegradable, but the most promising polymers fall in both categories. Polyhydroxyalkanoates (PHAs) are one such class of polymers, and poly-3-hydroxybutyrate (P3HB), the most popular PHA, has shown great potential. This study utilized two types of cotton-derived glucose, alongside commercial glucose, as a feedstock for the biosynthesis of P3HB by Cupriavidus necator (also known as Ralstonia eutropha). The fermentation took place in a 2-L bioreactor, showing potential for scale-up. A single-solvent extraction method was …

Drug-Eluting Resorbable Scaffold Versus Balloon Angioplasty For Below-The-Knee Peripheral Artery Disease: 2-Year Results From The Life-Btk Trial., Brian G Derubertis, Ramon L Varcoe, Prakash Krishnan, Marc P Bonaca, David J O'Connor, Richard Pin, David C Metzger, Andrew Holden, Jen-Kuang Lee, Osamu Iida, Ehrin J Armstrong, Steven W C Kum, Raghu Kolluri, Danielle R Bajakian, Lawrence A Garcia, Mehdi H Shishehbor, Shawn Yu, Karine Ruster, Brad J Martinsen, Zsuzsanna Igyarto, Sahil A Parikh

Heart and Vascular Articles

BACKGROUND: Limited treatment options exist for infrapopliteal disease in patients with chronic limb-threatening ischemia (CLTI), a condition associated with a high risk of limb loss. Interventional management of diseased infrapopliteal vessels with percutaneous transluminal angioplasty (PTA) is associated with high rates of restenosis and reintervention. In the LIFE-BTK randomized controlled trial (Pivotal Investigation of Safety and Efficacy of BRS Treatment-Below the Knee), the drug-eluting resorbable scaffold (DRS) demonstrated superior 12-month efficacy compared with PTA in a selected CLTI population with predominantly noncomplex, mildly to moderately calcified lesions. This report presents the 2-year safety and efficacy outcomes of the Esprit BTK …

Cytotoxicity And Osteogenic Potentials Of Mesenchymal Stem Cells Via A Novel Formulation Of Mineral Trioxide Aggregate: An In Vitro Study, Ahmed Elgendi, Ehab Hassanien, Mohamed Nagy, Iman Fathy, Ashraf Abu Seida, Elhassan Hassanein

International Arab Journal of Dentistry

Objectives: Root perforations can lead to periodontitis and alveolar bone loss. This study compared cytotoxicity and osteogenic potential of zirconia-containing mineral trioxide aggregate (MTA) Matreva (MAT group) to MTA Angelus (ANG group) as root perforation repair materials.

Methods: Bone marrow mesenchymal stem cells (BM-MSCs) were extracted from two albino rats and cultivated. The cytotoxicity of the studied materials was determined using the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) assay at three time points: 3, 7, and 14 days. The evaluated materials were employed to guide the osteogenic differentiation of BM-MSCs into osteoblasts. The osteogenic impact was evaluated by assessing calcium …

Assessment Of External Root Resorption During The First Stage Of The Orthodontic Treatment: A Prospective Cone-Beam Tomography Study, Eliana Pineda Vélez

International Arab Journal of Dentistry

Introduction: predisposition to root resorption as a result of a dental movement may be a consequence of clinical, biological, and biomechanical factors that should lead the clinician to objectively assess each patient to reduce associated risk factors.

Objectives: to establish an association between clinical and tomographic findings related to external root resorption (ERR) using cone beam tomography (CBCT) on maxillary incisors during the first stage of the orthodontic treatment. Methods: an observational, follow-up, cohort study that analyzed the association between clinical and radiographic variables on maxillary incisors using CBCT before placing fixed orthodontic appliances and finishing the first …

Evaluation Of Anti-Bacterial Efficacy Of Ginger, Resin Gum, And Nigella Sativa Irrigants Against Enterococcus Faecalis: An In Vitro Study, Iman El Ghazzawy, Leen Imad Hasbini, Reem Chamseddine, Wael Betbout, Roula Abiad

International Arab Journal of Dentistry

Objectives: To evaluate the antibacterial efficacy of Ginger, Resin Gum, and Nigella Sativa, against Enterococcus Faecalis.

Methods: Thirty-eight extracted single-rooted premolars were inoculated with E.faecalis, except the negative control, and incubated for 4 weeks. After instrumentation samples were divided into 4 groups (n=7) according to final irrigation: NaOCl+EDTA (Group A), Nigella sativa (B), Resin Gum (C), Ginger (D), plus 2 control groups (n=5): Saline (E), and Saline without bacterial inoculation (F). Cultures were collected at baseline and after irrigation.

Results: One-way ANOVA showed that in groups A-D a statistically significant reduction of bacterial load was observed at …

Allergy In Dentistry: Mechanisms Of Development And Effective Treatment Methods, Maria Zofia Lisiecka

International Arab Journal of Dentistry

Objectives: This study is conducted to analyse the mechanisms of allergic reaction development in dentistry and the effectiveness of their treatment methods.

Methods: During it, a review of current scientific sources on allergology, immunology, dentistry, pharmacology, and materials science is conducted, mechanisms for the development of allergies of various types are established, the effectiveness of treatment methods is evaluated, and clinical recommendations for allergy therapy in dentistry are formed.

Results: The results show that the development of allergic reactions occurs by two mechanisms. Immediate-type immunoglobulin E-mediated (IgE-mediated) responses are triggered by the release of histamine, serotonin, and …

Sickle Cell Anemia And Its Impact On The Oral Cavity: Integrative Review, Fernanda Leal, Maria Inês Guimarães, Ambre Natbeth, Inês Lopes Cardoso

International Arab Journal of Dentistry

Introduction: Sickle cell anemia, a hereditary disease, results from a mutation in the β-globin coding gene that makes up hemoglobin, leading to the deformation of erythrocytes. Numerous oral manifestations result from this disease; however, some may not be specific.

Objectives: This study’s objective is to recognize these clinical manifestations of the disease to be able to manage oral health in sickle cell anemia patients.

Methods: this integrative review analyzes scientific literature on the impact of sickle cell anemia on oral cavity. A bibliographic search was performed in PubMed, ScienceDirect, CINAHL Plus (via EBSCO host), Web of Science …

Impact On Oral Health Of The Post-Covid-19 Infections: A Systematic Review, Aouatif Aouidate, Hanane Ouddoud, Loubna Bahije

International Arab Journal of Dentistry

Introduction: The COVID-19 pandemic has been associated with a diverse range of oral health implications, including mucosal lesions, periodontitis, and disruptions of the oral microbiota. Since airborne particles primarily transmit COVID-19, understanding its potential impact on oral health is crucial for dental care and infection control.

Objectives: This systematic review aimed to evaluate the effects of post-COVID-19 infections on oral health, highlighting clinical manifestations, periodontal disease associations, and microbiota disturbances.

Methods: Electronic literature searches were conducted between January 2020 and July 2024 by one author across several databases, including PubMed/MEDLINE, Scopus, Cochrane Library, EMBASE, ScienceDirect, Google Scholar, …

Probabilistic Data Linkage To Study The Epidemiology Of Unintentional Fatal Drowning In A Large Metropolitan Region, Rohit P Shenoi, Ned Levine, Elizabeth A Camp, Linh Nguyen, Sandra Mckay, Shaila Zaman

Faculty, Staff and Students Publications

Background: It is difficult to study the epidemiology of drowning at the regional level because of multiple data sources, many of which have a high degree of unstandardized and missing data. We aimed to link multiple datasets to identify demographics and geographic locations of unintentional fatal drowning in a metropolitan region and compare linked data with vital statistic data.

Methods: This cross-sectional study included unintentional drowning fatalities among persons of all ages in metropolitan Houston between 2016 and 2022. Probabilistic linking was used to link multiple datasets and geographical mapping to identify drowning locations. The effectiveness of data linkage was …

The Clingen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications For Classification Of Variants In Ada, Dclre1c, Il2rg, Il7r, Jak3, Rag1, And Rag2, Vanessa C Jacovas, Michelle Zelnick, Shannon Mcnulty, Justyne E Ross, Namrata Khurana, Xueyang Pan, Alejandro Nieto, Shiloh Martin, Benjamin Mclean, Marwa A Elnagheeb, Morton J Cowan, Jennifer M Puck, Mike S Hershfield, James Verbsky, Jolan Walter, Eric J Allenspach, Alice Y Chan, Nicolai S C Van Oers, Rajarshi Ghosh, Megan Piazza, Bo Yuan, Luigi D Notarangelo, Britt A Johnson, Ivan K Chinn, Severe Combined Immunodeficiency Variant Curation Expert Panel

Faculty, Staff and Students Publications

Purpose: This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for interpreting germline variants in genes with established relationships to SCID. The effort focused on the 7 most common SCID-related genes identified by SCID newborn screening in North America: ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.

Methods: The SCID-VCEP conducted a rigorous review of variants that involved database analyses, literature review, and expert feedback to derive gene-specific modifications to the ACMG/AMP guidelines. These …

Contribution Of Genetic Test Results To Patient Management In Ophthalmology: Results From A Turkish Stargardt Disease Cohort ​, Fulya Yaylacioğlu Tuncay, Şengül Özdek, Burak Acar, Gülsüm Kayhan, Murat Yüksel, Hüseyi̇n Baran Özdemi̇r, İhsan Gökhan Güreli̇k, Mehmet Ali̇ Ergün

Turkish Journal of Medical Sciences

Background/aim: The aim of the study was to analyze the genotype and phenotype characteristics of Turkish patients with a clinical diagnosis of Stargardt disease and to evaluate how collaboration between the departments of medical genetics and ophthalmology contributes to patient management.

Materials and methods: The clinical findings, genetic testing workflow in the medical genetics department, and the genetic testing results of patients clinically diagnosed with Stargardt disease in the ophthalmology department were retrospectively analyzed.

Results: The study included 50 patients from 46 families. The genetic test reports confirmed the clinical diagnosis of Stargardt disease type 1 (STGD1) in 27 patients …

Efficacy Of Autologous Platelet-Rich Fibrin (Prf) In Promoting Soft Tissue Healing And Bone Regeneration Following Extraction In The Anterior Maxilla: A Digital And Radiological Study, Anthony El Rai, Abdallah Menhall, Joseph Zaarour, Robin Jalkh, Joseph Bassil

International Arab Journal of Dentistry

Objectives: The main objective of this study was to evaluate the effectiveness of PRF in promoting soft tissue healing and bone regeneration after extraction in the anterior maxillary region. A secondary objective was to correlate soft tissue change with underlying bone structure variation. Finally, the study also aimed to compare soft and hard tissue alteration based on different types of extracted teeth.

Methods: The sample included five adult patients requiring the extraction of at least two symmetrical teeth in the anterior maxilla, totaling fourteen teeth. Participants underwent CBCT scans and digital impressions before extraction. Concerned teeth were then …