Medical Specialties Commons^™

The Vespa Project: Virtual Reality Interventions For Neurocognitive And Developmental Disorders, Emanuele Maria Merlo, Liam Alexander Mackenzie Myles, Salvatore Marco Pappalardo

Journal of Mind and Medical Sciences

VESPA is a financed project supported by the Sicilian Regional Research and Development funds, and it is structured by the development, research and validation of Virtual Reality (VR) based application for the diagnosis and treatment of neurocognitive conditions. In particular, this article presents its characteristics, referred to as the first (2013-2015) and second (2021-ongoing) generations of VESPA, with particular reference to literature regarding the VR technology application and development, the VR treatment of neurocognitive conditions and prior versions of this intervention. Through a comprehensive review of the research conducted over the last 5 years, evidence has emerged supporting VESPA’s aim …

The Chromosome-Level Rambutan Genome Reveals A Significant Role Of Segmental Duplication In The Expansion Of Resistance Genes, Jinfang Zheng1, Lyndel W. Meinhardt, Ricardo Goenaga, Tracie Matsumoto, Dapeng Zhang, Yanbin Yin

Food for Health: Publications

Rambutan (Nephelium lappaceum var. lappaceum), a tropical fruit tree native to southeastern Asia, belongs to the family Sapindaceae. Rambutan is a popular table fruit and is also processed into preserves, juices, wines, and sorbets [1]. At present, only three Sapindaceae genomes are publicly available: Xanthoceras sorbifolium [2], Dimocarpus longan (longan) [3], and Acer yangbiense [4]. During the process of submitting this manuscript, the genome paper for the rambutan cultivar Baoyan7 became available online, but its genome sequence has not yet been released [5].

Envisioning Future Urinary Tract Infection Diagnostics, Robin Patel, Christopher R Polage, Jennifer Dien Bard, Larissa May, Francesca M Lee, Valeria Fabre, Mary K Hayden, Sarah D B Doernberg, David A Haake, Barbara W Trautner, Larissa Grigoryan, Ephraim L Tsalik, Kimberly E Hanson

Faculty, Staff and Students Publications

Urinary tract infections (UTIs) are among the most common bacterial infections in the United States and are a major driver of antibiotic use, both appropriate and inappropriate, across healthcare settings. Novel UTI diagnostics are a strategy that might enable better UTI treatment. Members of the Antibacterial Resistance Leadership Group Laboratory Center and the Infectious Diseases Society of America Diagnostics Committee convened to envision ideal future UTI diagnostics, with a view towards improving delivery of healthcare, patient outcomes and experiences, and antibiotic use, addressing which types of UTI diagnostics are needed and how companies might approach development of novel UTI diagnostics.

Role Of Percutaneous Tibial Nerve Stimulation In The Management Of The Detrusor Overactivity, Abourjila A. Gamal Eldin, Amr M. Elsofy, Ayman M. Gabr, Emad K. El Tair

Journal of Medicine in Scientific Research

Introduction Percutaneous tibial nerve stimulation (PTNS) is a technique that was developed a decade or more ago, but it does not seem to have become widely adopted into clinical practice. Aim The purpose of this study is focused on the efficacy of PTNS for the treatment of an overactive bladder. Patients and methods Between September 2016 and October 2019, this study included 40 patients who are complaining of irritative voiding symptoms, such as frequency, urgency, nocturia, enuresis, and urge incontinence. Those patients are divided into two equal groups subjected to PTNS and sham groups. Results Only 40 patients completed the …

Prevalence, Phenotypic Distribution, And Clinical Characteristics Of Polycystic Ovary Syndrome In Egyptian Women With Type 1 Diabetes Mellitus, Ayat I. Ghanem, Dina H. Abd Elmonem, Eman M. Aly, Fatma K. Hammad

Journal of Medicine in Scientific Research

Background Type 1 diabetes mellitus (T1DM) has shown a steady increase in prevalence in most parts of the world. Polycystic ovary syndrome (PCOS) frequently occurs in 15–20% of women in their reproductive age. It is associated with subfertility, ovulatory dysfunction, dysregulated androgen biosynthesis, and increased risk of insulin resistance. This study aims to assess the prevalence, phenotypic distribution, and clinical characteristics of PCOS in a sample of Egyptian women with T1DM. Patients and methods A total of 100 Egyptian women in their reproductive age (18–42 years old) previously diagnosed as having T1DM were recruited in the study. They were screened …

Determination Of The Level Of Cd4cd69 T Cells In Hemodialysis Patients, Ahmed A. A. Megeed, Azza A. I. Elmenyawi, Mohamed Salah, Nehad R. Ibrahim

Journal of Medicine in Scientific Research

Introduction The CD4 helper T cell is responsible for humoral, cellular immunity, and inflammation. CD69 may be a sensitive marker indicating that the CD4 T cell is activated. The aim of this study is to determine CD4CD69 T cells for estimating the activation of CD4 T cells and to monitor hemodialysis (HD) outcome. Participants and methods Sixty-two HD patients and 50 controls were enrolled in our study. CD3, CD4, CD3CD69, and CD4CD69 T cell percentages were assessed by flow cytometry. Transferrin was determined using ELISA. Results The lymphocyte count, the CD3 T cell percentage and CD4 T cell percentage were …

Cytomorphological Evaluation Of Enlarged Lymph Nodes: A Tertiary Hospital-Based Study, Arun Dev Singh, Sheetal Chandel, Shivani Gandhi

Journal of Medicine in Scientific Research

Introduction Lymphadenopathy is one of the commonly encountered clinical presentations and early targets for aspiration; therefore, it provides an important clue toward the diagnosis of the underlying etiology. Patients and materials The present study was conducted in a tertiary care hospital in North India among 201 patients who underwent fine-needle aspiration cytology (FNAC) after gaining their informed consent. Results In the study, most patients were males (52.73%), with a male-to-female ratio of 1.1:1. The age group ranged from 1 to more than 80 years, with most patients in the age group of 21–30 years followed by 0–10 years and the …

Cochlear Implantation In 602 Cases: Surgical Complications During 7 Years Of Experience In A Specialized Institute, Ahmed Mustafa, Ihab K. Sefein, Mohammad M. Gaballah

Journal of Medicine in Scientific Research

Aim To assess the complications of cochlear implantation (CI) during our 7 years of experience since the start of the CI program in our institute. Patients and methods The study included 602 CI procedures performed from April 2013 to January 2020. The follow-up period ranged between 12 and 73 months. Complications were classified into perioperative, major complications requiring reimplantation, major complications not requiring reimplantation, and minor complications. Collected data were statistically analyzed. Results Of the 602 implantations, 509 were children. Age ranged between 1.2 and 64 years. Mean implantation age in pediatrics was 4.4 and 31.07 years in adults. A …

Role Of The Viability Study To Solve The Dilemma Of The Management Of Moderate Ischemic Mitral Regurgitation: When To Do Revascularization Alone Or Revascularization And Mitral Valve Repair?, Ashraf Abdelaziz, Hazem G. Bakr, Ibrahim M. Helmi, Khaled S. Ahmed

Journal of Medicine in Scientific Research

Back ground The purpose of this study is to determine the role of the viability study to solve the dilemma of management of moderate ischemic mitral regurgitation (IMR): when to do revascularization alone or revascularization and mitral valve repair?. Patients and methods A retrospective study included 120 patients with ischemic heart disease (IHD) who underwent coronary artery bypass surgery (CABG) with IMR aged from 40 to 65 years of both sexes. They were divided into two groups of patients: Group I: 60 patients with IHD and moderate IMR had CABG for revascularization only. Group II: 60 patients with IHD and …

Does The Previous Stenting Affects The Outcome Of Coronary Artery Bypass Grafting In Patients With Multivessel Disease, Hazem G. Bakr, Ibrahim M. Helmi, Waleed A. Kamel

Journal of Medicine in Scientific Research

Background During the past decade, the number of percutaneous coronary interventions (PCI) performed before coronary artery bypass grafting (CABG) has risen significantly. Patients with more serious coronary pathology are referred for CABG, which can affect the postoperative outcome. Patients and methods Outcomes of 60 CABG patients, who were recruited in a prospective comparative study, were compared. Group A (n = 30) underwent primary CABG and group B (n = 30), had prior PCI before CABG. Results Total morbidity was substantially higher in the second group than in the first, with six patients in group A (nonstent group) and …

Highlight On Some Immune Disorders In Chronic Kidney Disease, Ahmed A. Abdel Megeed, Ahmed H. Elthakaby, Azza A. I. Elmenyawi, Nehad R. Ibrahim

Journal of Medicine in Scientific Research

Introduction Chronic inflammation and immune inadequacy are present in chronic kidney disease (CKD) patients. T-helper type 17 (Th17) cells give rise to interleukin (IL)-17, IL-22, and IL-23, cause neutrophils to drive to sites of infection, and enhance moderate immune reactions to microbes outside the cells. They are responsible for autoimmune diseases. Regulatory T (Treg) cells secrete anti-inflammatory cytokines IL-10 and transforming growth factor beta and suppress immune reactions to preserve immune homeostasis. The decreased count or disability of Treg leads to immune dysregulation. Endoplasmic reticulum stress (ERS) leads to unfolded protein response that is stimulated by glucose-regulated protein 78 (GRP78). …

The Outcome Of Managing Sleep Apnea In Children With Cerebral Palsy, Mohamed F. Alsoda, Samir H. Khalil, Wael M. Hossam

Journal of Medicine in Scientific Research

Background Obstructive sleep apnea (OSA) is not an uncommon finding in the pediatric age group patients with cerebral palsy (CP). Objective We aimed to evaluate the frequency of occurrence of OSA in children with CP and the most appropriate surgical procedures used in these patients. Study design A prospective study was carried out on 67 children with OSA, 36 of whom suffer from CP. The data included the presenting complaint, any coexisting illnesses, preoperative and postoperative polysomnography results, the primary surgical procedure performed, age at the time of surgery, number of postoperative hospitalization days in the ICU, and presence of …

Rate Of Reoperation After Strabismus Surgery, Heba Metwally

Journal of Medicine in Scientific Research

Aims To determine and analyze the reoperation rate during the first 1–2 years following surgical correction of strabismus using the conventional suture technique. Patients and methods This retrospective cohort study included patients of all ages who underwent surgical correction of strabismus with the conventional suture technique. Electronic medical records of the patients were reviewed. The extracted data included the patients' sociodemographics, the type of strabismus, history of the first strabismus surgery, presence of sequelae, and the need for reoperation. Results This study included 337 patients who underwent surgical correction of strabismus. Thirty (8.9%) out of 337 patients required reoperation. The …

Evaluation And Correlation Of Laboratory, Radiological Markers, And Cytokine Inflammation In Patients With Severe Acute Respiratory Syndrome Coronavirus Disease 2019, Kirit Pandey, Nikhil Bakhtar, Niyati Bakhtar, Vijay Bakhtar

Journal of Medicine in Scientific Research

Aim and objective Fever and lymphocyte count to start the interventions and not wait for the upregulation of IL-6 and down regulation of SpO2 levels amongst the patients. Background In SARS-CoV-2 host immune response play a critical role in disease pathogenesis. The coronavirus not only activates antiviral immune responses, but it can also cause uncontrolled inflammatory responses categorized by marked proinflammatory cytokine release in patients with severe COVID-19, leading to lymphopenia. In this present article we have studied the basic parameters of COVID-19 that includes fever and lymphocyte count and their deep association with markers of disease prognosis and cytokine …

Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (K121q Rs1044498) Polymorphism Is Associated With Diabetic Nephropathy But Not Obesity Among Type-2 Diabetes Mellitus Egyptian Patients, Ayat I. Ghanem, Ghada A. Omar, Mohsen M. Khalid

Journal of Medicine in Scientific Research

Introduction Genetics contribute to the development of type-2 diabetes mellitus (T2DM), its complications, and phenotypes such as diabetic nephropathy (DN) and obesity. Although the likely associations among the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene, DN and obesity have been massively investigated, the results are still controversial. This study aimed to assess whether ENPP1 K121Q (A/C rs1044498) variant is associated with DN and obesity in T2DM Egyptian patients. We genotyped this variant in a total of 183 T2DM Egyptian patients who were classified into cases (91 participants with moderately increased albuminuria or severely increased albuminuria ≥ 30 mg/g) and controls …

Comment On A Case Of Positive Coronavirus Disease 2019-Infected Patient With Retinal Detachment And A Large Macular Hole: A Case Report, Pradeep K. Panigrahi

Journal of Medicine in Scientific Research

No abstract provided.

Exploiting 4–1bb Immune Checkpoint To Enhance The Efficacy Of Oncolytic Virotherapy For Diffuse Intrinsic Pontine Gliomas, Virginia Laspidea, Montserrat Puigdelloses, Sara Labiano, Lucía Marrodán, Marc Garcia-Moure, Marta Zalacain, Marisol Gonzalez-Huarriz, Naiara Martínez-Vélez, Iker Ausejo-Mauleon, Daniel De La Nava, Guillermo Herrador-Cañete, Javier Marco-Sanz, Elisabeth Guruceaga, Carlos E De Andrea, María Villalba, Oren Becher, Massimo Squatrito, Verónica Matía, Jaime Gállego Pérez-Larraya, Ana Patiño-García, Sumit Gupta, Candelaria Gomez-Manzano, Juan Fueyo, Marta M Alonso

Faculty, Staff and Student Publications

Diffuse intrinsic pontine gliomas (DIPGs) are aggressive pediatric brain tumors, and patient survival has not changed despite many therapeutic efforts, emphasizing the urgent need for effective treatments. Here, we evaluated the anti-DIPG effect of the oncolytic adenovirus Delta-24-ACT, which was engineered to express the costimulatory ligand 4-1BBL to potentiate the antitumor immune response of the virus. Delta-24-ACT induced the expression of functional 4-1BBL on the membranes of infected DIPG cells, which enhanced the costimulation of CD8+ T lymphocytes. In vivo, Delta-24-ACT treatment of murine DIPG orthotopic tumors significantly improved the survival of treated mice, leading to long-term survivors that developed …

Lymphocyte Depletion Rate As A Biomarker Of Radiation Dose To Circulating Lymphocytes During Fractionated Partial-Body Radiation Therapy, Susannah G Ellsworth, Anirudh Yalamanchali, Tim Lautenschlaeger, Stuart A Grossman, Clemens Grassberger, Steven H Lin, Radhe Mohan

Faculty, Staff and Student Publications

Purpose: Radiation causes exponential depletion of circulating lymphocyte populations; in turn, radiation-induced lymphopenia is associated with worse survival for many solid tumors, possibly owing to attenuated antitumor immune responses. Identifying reliable and reproducible methods of calculating the radiation dose to circulating immune cells may facilitate development of techniques to reduce the risk and severity of radiation-induced toxic effects to circulating lymphocytes.

Methods and materials: Patient-specific lymphocyte loss rates were derived from a clinical data set including 684 adult patients with solid tumors. Multivariable linear regression was used to model the relationship between the lymphocyte loss rate and physical parameters of …

Loss-Of-Function Variants In Tiam1 Are Associated With Developmental Delay, Intellectual Disability, And Seizures, Shenzhao Lu, Rebecca Hernan, Paul C Marcogliese, Yan Huang, Tracy S Gertler, Meltem Akcaboy, Shiyong Liu, Hyung-Lok Chung, Xueyang Pan, Xiaoqin Sun, Melahat Melek Oguz, Ulkühan Oztoprak, Jeroen H F De Baaij, Jelena Ivanisevic, Erin Mcginnis, Maria J Guillen Sacoto, Wendy K Chung, Hugo J Bellen

Duncan NRI Faculty and Staff Publications

TIAM Rac1-associated GEF 1 (TIAM1) regulates RAC1 signaling pathways that affect the control of neuronal morphogenesis and neurite outgrowth by modulating the actin cytoskeletal network. To date, TIAM1 has not been associated with a Mendelian disorder. Here, we describe five individuals with bi-allelic TIAM1 missense variants who have developmental delay, intellectual disability, speech delay, and seizures. Bioinformatic analyses demonstrate that these variants are rare and likely pathogenic. We found that the Drosophila ortholog of TIAM1, still life (sif), is expressed in larval and adult central nervous system (CNS) and is mainly expressed in a subset of neurons, but not in …

First Annual Research Symposium Program With Abstracts, Office Of Research Affairs, Boonshoft School Of Medicine

Boonshoft School of Medicine Research Symposium

The program booklet is a compilation of abstracts from oral and poster presentations at Wright State University's First Annual Boonshoft School of Medicine Medical Research Symposium held on April 6, 2022.

Hsp90-Cdc37 Functions As A Chaperone For The Oncogenic Fgfr3-Tacc3 Fusion, Tao Li, Farideh Mehraein-Ghomi, M Elizabeth Forbes, Sanjeev V Namjoshi, E Ashley Ballard, Qianqian Song, Ping-Chieh Chou, Xuya Wang, Brittany C Parker Kerrigan, Frederick F Lang, Glenn Lesser, Waldemar Debinski, Xuejun Yang, Wei Zhang

Faculty, Staff and Student Publications

The FGFR3-TACC3 (F3-T3) fusion gene was discovered as an oncogenic molecule in glioblastoma and bladder cancers, and has subsequently been found in many cancer types. Notably, F3-T3 was found to be highly expressed in both untreated and matched recurrence glioblastoma under the concurrent radiotherapy and temozolomide (TMZ) treatment, suggesting that targeting F3-T3 is a valid strategy for treatment. Here, we show that the F3-T3 protein is a client of heat shock protein 90 (HSP90), forming a ternary complex with the cell division cycle 37 (CDC37). Deprivation of HSP90 or CDC37 disrupts the formation of the ternary complex, which destabilizes glycosylated …

Targeting The Nrf2/Ho-1 Antioxidant Pathway In Flt3-Itd-Positive Aml Enhances Therapy Efficacy, Sankaranarayan Kannan, Mary E Irwin, Shelley M Herbrich, Tiewei Cheng, Lanisha L Patterson, Marisa J L Aitken, Kapil Bhalla, M James You, Marina Konopleva, Patrick A Zweidler-Mckay, Joya Chandra

Faculty, Staff and Student Publications

Acute myeloid leukemia (AML) is a molecularly heterogenous hematological malignancy, with one of the most common mutations being internal tandem duplication (ITD) of the juxtamembrane domain of the fms-like tyrosine kinase receptor-3 (FLT3). Despite the development of FLT3-directed tyrosine kinase inhibitors (TKI), relapse and resistance are problematic, requiring improved strategies. In both patient samples and cell lines, FLT3-ITD raises levels of reactive oxygen species (ROS) and elicits an antioxidant response which is linked to chemoresistance broadly in AML. NF-E2-related factor 2 (NRF2) is a transcription factor regulating the antioxidant response including heme oxygenase -1 (HO-1), a heat shock protein implicated …

Demographic And Regional Trends Of Mortality In Patients With Aortic Dissection In The United States, 1999 To 2019, Salik Nazir, Robert W Ariss, Abdul Mannan Khan Minhas, Rochell Issa, Erin D Michos, Yochai Birnbaum, George V Moukarbel, P Kasi Ramanathan, Hani Jneid

Faculty, Staff and Students Publications

Background Aortic dissection (AoD) is associated with high morbidity and mortality. However, the burden of AoD mortality is not well characterized, and contemporary data and mortality trends in different demographic and geographic subgroups have not been described. Methods and Results Trends in AoD mortality were assessed using a cross-sectional analysis of the Centers for Disease Control and Prevention Wide-Ranging Online Data for Epidemiologic Research database. Crude and age-adjusted mortality rates (AAMR) per 1 million people with associated annual percent changes were determined. Joinpoint regression was used to assess trends in the overall sample and different demographic (sex, race and ethnicity, …

Perceptions Of Weight Status And Energy Balance Behaviors Among Patients With Non-Alcoholic Fatty Liver Disease, Natalia I Heredia, Ruchi Gaba, Yan Liu, Shilpa Jain, Manasi Rungta, Manav Rungta, Hashem B El-Serag, Fasiha Kanwal, Aaron P Thrift, Maya Balakrishnan

Faculty, Staff and Students Publications

Weight loss through behavioral modification is central to treating non-alcoholic fatty liver disease (NAFLD). To achieve this, patients need to accurately self-perceive their health behaviors. We aimed to identify predictors of concordance between self-perception and objective measures of body weight, physical activity (PA) and dietary behaviors. We used data from the Harris County NAFLD Cohort, an ongoing prospective study in a regional safety-net healthcare system. Patients completed self-administered baseline questionnaires on demographics, diet, PA, and self-perceptions. We assessed concordance between actual and self-perceived body weight and energy-balance behaviors. Multivariable logistic regression identified predictors of concordance. Patients (n = 458; average …

Methylation Quantitative Trait Loci Are Largely Consistent Across Disease States In Crohn’S Disease, Suresh Venkateswaran, Hari K Somineni, Varun Kilaru, Seyma Katrinli, Jarod Prince, David T Okou, Jeffrey S Hyams, Lee A Denson, Richard Kellermayer, Greg Gibson, David J Cutler, Alicia K Smith, Subra Kugathasan, Karen N Conneely

Faculty, Staff and Students Publications

Recently, we identified 1,189 CpG sites whose DNA methylation level in blood associated with Crohn's disease. Here, we examined associations between DNA methylation and genetic variants to identify methylation quantitative trait loci across disease states in (1) 402 blood samples from 164 newly diagnosed pediatric Crohn's disease patients taken at 2 time points (diagnosis and follow-up), and 74 non-inflammatory bowel disease controls, (2) 780 blood samples from a non-Crohn's disease adult population, and (3) 40 ileal biopsies (17 Crohn's disease cases and 23 non-inflammatory bowel disease controls) from group (1). Genome-wide DNAm profiling and genotyping were performed using the Illumina …

Two-Dimensional Titanium Dioxide-Surfactant Photoactive Supramolecular Networks: Synthesis, Properties, And Applications For The Conversion Of Light Energy, Harold Lozano, Sindy Devis, Juan Aliaga, Matías Alegría, Hernán Guzmán, Roberto Villarroel, Eglantina Benavente, Guillermo González

Faculty, Staff and Students Publications

The desire to harness solar energy to address current global environmental problems led us to investigate two-dimensional (2D) core–shell hybrid photocatalysts in the form of a 2D-TiO2–surfactant, mainly composed of fatty acids. The bulk products, prepared by two slightly different methods, consist of stacked host–guest hybrid sheets held together by van der Waals forces between alkyl carboxylate moieties, favoring the synergistic conjugation of the photophysical properties of the core and the hydrophobicity of the self-assembled surfactant monolayer of the shell. X-ray diffraction and the vibrational characteristics of the products revealed the influence of synthesis strategies on two types of supramolecular …

Patterns Of Amygdala Region Pathology In Late-Nc: Subtypes That Differ With Regard To Tdp-43 Histopathology, Genetic Risk Factors, And Comorbid Pathologies, Matthew D. Cykowski, Anithachristy S. Arumanayagam, Suzanne Z. Powell, Andreana L. Rivera, Erin L. Abner, Gustavo C. Roman, Joseph C. Masdeu, Peter T. Nelson

Sanders-Brown Center on Aging Faculty Publications

Transactive response (TAR) DNA-binding protein 43 kDa (TDP-43) pathology is a hallmark of limbic-predominant agerelated TDP-43 encephalopathy (LATE). The amygdala is afected early in the evolution of LATE neuropathologic change (LATE-NC), and heterogeneity of LATE-NC in amygdala has previously been observed. However, much remains to be learned about how LATE-NC originates and progresses in the brain. To address this, we assessed TDP-43 and other pathologies in the amygdala region of 184 autopsied subjects (median age=85 years), blinded to clinical diagnoses, other neuropathologic diagnoses, and risk genotype information. As previously described, LATE-NC was associated with older age at death, cognitive impairment, …

Spata7 Is Required For Maintenance Of The Retinal Connecting Cilium, Jiaxiong Lu, Kaitlyn Xiong, Xinye Qian, Jongsu Choi, Yoon-Kyung Shim, Jacob Burnett, Graeme Mardon, Rui Chen

Faculty, Staff and Students Publications

SPATA7, an early onset LCA3 retinal disease gene, encodes a putative scaffold protein that is essential for the proper assembly of the connecting cilium (CC) complex in photoreceptors. Previous studies have shown that SPATA7 interacts with other photoreceptor-specific ciliary proteins, such as RPGR and RPGRIP1, and maintains the integrity of CC integrity. However, although it is known that Spata7 is required for early formation of the CC, it is unclear if Spata7 is also required for the maintenance of the CC. To investigate Spata7 function in the retina at the adult stage, loss of function was induced in the …

Urinary Incontinence: Understanding The Silent Plight Of Women, Yasmin Nadeem Parpio, Anmol Minaz, Sonia Ijaz Haider

School of Nursing & Midwifery

Urinary incontinence (UI) is defined as the complaint of involuntary loss of urine. UI affects both men and women but is more common in women. It has been identified as a World Health Organization priority. The burden related to UI at local, national, and global levels is huge and its impact in terms of physical, social, mental, and financial aspects makes it a concerning issue. However, there exist several barriers in terms of knowledge and attitude in seeking healthcare among women experiencing UI. This calls upon a multi-disciplinary approach involving professionals from different disciplines and tackling it with collaborative and …

New Insights Into The Genetic Etiology Of Alzheimer’S Disease And Related Dementias, Céline Bellenguez, Fahri Küçükali, Iris Jansen, Luca Kleineidam, Sonia Moreno-Grau, Najaf Amin, Adam C. Naj, Rafael Campos-Martin, David W. Fardo, Yuriko Kastumata, Erin L. Abner, Radb, Gr@Ace, Degesco, Eadi, Gerad, Demgene, Finngen, Adgc, Charge

Sanders-Brown Center on Aging Faculty Publications

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly …