Medicine and Health Sciences Commons^™

Dopamine Perturbation Of Gene Co-Expression Networks Reveals Differential Response In Schizophrenia For Translational Machinery, Mark Z. Kos, Jubao Duan, Alan R. Sanders, Lucy Blondell, Eugene I. Drigalenko, Melanie A. Carless, Pablo V. Gejman, Harald H. H. Goring

School of Medicine Publications and Presentations

The dopaminergic hypothesis of schizophrenia (SZ) postulates that positive symptoms of SZ, in particular psychosis, are due to disturbed neurotransmission via the dopamine (DA) receptor D2 (DRD2). However, DA is a reactive molecule that yields various oxidative species, and thus has important non-receptor-mediated effects, with empirical evidence of cellular toxicity and neurodegeneration. Here we examine non-receptor-mediated effects of DA on gene co-expression networks and its potential role in SZ pathology. Transcriptomic profiles were measured by RNA-seq in B-cell transformed lymphoblastoid cell lines from 514 SZ cases and 690 controls, both before and after exposure to DA ex vivo (100 μM). …

Atra Reduces Inflammation And Improves Alveolar Epithelium Regeneration In Emphysematous Rat Lung, Swati Uniyal, Anupam Dhasmana, Amit Tyagi, Jai Prakash Muyal

School of Medicine Publications and Presentations

Introduction

Pulmonary emphysema characterized by alveolar wall destruction is resultant of persistent chronic inflammation. All-trans retinoic acid (ATRA) has been reported to reverse elastase-induced emphysema in rats. However, the underlying molecular mechanisms are so far unknown.

Objective

To investigate the therapeutic potential effect of ATRA via the amelioration of the ERK/JAK-STAT pathways in the lungs of emphysematous rats.

Methods

In silico analysis was done to find the binding efficiency of ATRA with receptor and ligands of ERK & JAK-STAT pathway. Emphysema was induced by porcine pancreatic elastase in Sprague-Dawley rats and ATRA was supplemented as therapy. Lungs were harvested for …

Diabetes Screen During Tuberculosis Contact Investigations Highlights Opportunity For New Diabetes Diagnosis And Reveals Metabolic Differences Between Ethnic Groups, Blanca I. Restrepo, Léanie Kleynhans, Alejandra B. Salinas, Bassent Abdelbary, Happy Tshivhula, Genesis P. Aguillón-Durán, Carine Kunsevi-Kilola, Gloria Salinas, Kim Stanley, Juan C. Lopez-Alvarenga

School of Medicine Publications and Presentations

Type 2 diabetes (T2D) is a prevalent risk factor for tuberculosis (TB), but most studies on TB-T2D have focused on TB patients, been limited to one community, and shown a variable impact of T2D on TB risk or treatment outcomes. We conducted a cross-sectional assessment of sociodemographic and metabolic factors in adult TB contacts with T2D (versus no T2D), from the Texas-Mexico border to study Hispanics, and in Cape Town to study South African Coloured ethnicities. The prevalence of T2D was 30.2% in Texas-Mexico and 17.4% in South Africa, with new diagnosis in 34.4% and 43.9%, respectively. Contacts with T2D …

Antagonizing The Corticotropin Releasing Hormone Receptor 1 With Antalarmin Reduces The Progression Of Endometriosis, Annelyn Torres-Reveron, Leslie L. Rivera-Lopez, Idhaliz Flores, Caroline B. Appleyard

School of Medicine Publications and Presentations

Endometriosis is a disorder in which endometrial tissue is found outside the uterus causing pain, infertility and stress. Finding effective, non-hormonal and long-term treatments for endometriosis still remains one of the most significant challenges in the field. Corticotropin releasing hormone (CRH) is one of the main signaling peptides within the hypothalamic pituitary adrenal (HPA) axis released in response to stress. CRH can affect nervous and visceral tissues such as the uterus and gut via activation of two types of CRH receptors: CRHR1 and CRHR2. Our aim was to determine if blocking CRHR1 with antalarmin will reduce endometriosis progression. In experiment …

Redox-Sensitive, Cholesterol-Bearing Pegylated Poly(Propyleneimine)-Based Dendrimersomes For Drug And Gene Delivery To Cancer Cells, Partha Laskar, Sukrut Somani, Najla Altwaijry, Margaret Mullin, Deborah Bowering, Monika Warzecha, Patricia Keating, Rothwelle J. Tate, Hing Y. Leung, Christine Dufès

School of Medicine Publications and Presentations

Stimuli-responsive nanocarriers have attracted increased attention as materials that can facilitate drug and gene delivery in cancer therapy. The present study reports the development of redox-sensitive dendrimersomes comprising disulfide-linked cholesterol-bearing PEGylated dendrimers, which can be used as drug and gene delivery systems. Two disulfide-linked cholesterol-bearing PEGylated generation 3 diaminobutyric polypropylenimine dendrimers have been successfully synthesized via an in situ two-step reaction. They were able to spontaneously self-assemble into stable, cationic, nanosized vesicles (or dendrimersomes) with lower critical aggregation concentration values for high-cholesterol-bearing vesicles. These dendrimersomes were able to entrap both hydrophilic and hydrophobic dyes, and they also showed a redox-responsive …

Emergency General Surgery In Pregnancy, Jeffrey J. Skubic, Ali Salim

School of Medicine Publications and Presentations

It is often that the acute care surgeon will be called on to evaluate the pregnant patient with abdominal pain. Most of the diagnostic and management decisions regarding pregnant patients will follow the usual tenets of surgery; however, there are important differences in the pregnant patient to be aware of to avoid pitfalls which can lead to complications for both mother and fetus. This review hopes to describe the most common emergencies facing the surgeon caring for the pregnant patient and the latest management options.

“A Voice In Your Ear” Podcast – The Second Year, Michael Lapelusa, Joy Alvarado, Ignacio Escobedo, Valerie Terry, Arden D. Dingle

School of Medicine Publications and Presentations

In July of 2016, the University of Texas Rio Grande Valley (UTRGV) School of Medicine matriculated their first cohort (Class of 2020). In an attempt to organize the advice that the Class of 2020 planned to provide future classes, a podcast was developed by several medical students from the Class of 2020 in cooperation with faculty and administration.

Perceptions About Family-Centred Care Among Adult Patients With Chronic Diseases At A General Outpatient Clinic In Nigeria, Kenneth Yakubu, Zelra Malan, Maria C. Colon-Gonzalez, Bob Mash

School of Medicine Publications and Presentations

Background: Few studies in Africa have described patients’ perceptions about family-centred care (FCC).

Aim: The aim of this study was to explore perceptions of FCC among patients with chronic diseases.

Setting: The study was conducted at a general outpatient clinic (GOPC) in Jos, north-central Nigeria.

Methods: We used a mixed-methods phenomenological study design and conducted structured and semi-structured interviews with 21 adult patients with chronic diseases at a general outpatient clinic in north-central Nigeria.

Results: Patients described FCC using progressive levels of family engagement including the doctor inquiring about history of similar disease in the family, information …

Uncovering The Complex Genetics Of Human Temperament, Igor Zwir, Javier Arnedo, Coral Del-Val, Laura Pulkki-Råback, Bettina Konte, Sarah S. Yang, Rocio Romero-Zaliz, Mirka Hintsanen, Kevin M. Cloninger, Gabriel A. De Erausquin

School of Medicine Publications and Presentations

Experimental studies of learning suggest that human temperament may depend on the molecular mechanisms for associative conditioning, which are highly conserved in animals. The main genetic pathways for associative conditioning are known in experimental animals, but have not been identified in prior genome-wide association studies (GWAS) of human temperament. We used a data-driven machine learning method for GWAS to uncover the complex genotypic–phenotypic networks and environmental interactions related to human temperament. In a discovery sample of 2149 healthy Finns, we identified sets of single-nucleotide polymorphisms (SNPs) that cluster within particular individuals (i.e., SNP sets) regardless of phenotype. Second, we identified …

Association Of Common Polymorphisms In The Vegfa And Sirt1 Genes With Type 2 Diabetes-Related Traits In Mexicans, Armando Totomoch-Serra, Maria De Lourdes Muñoz, Juan Burgueño, Maria Cristina Revilla-Monsalve, Alvaro Diaz-Badillo

School of Medicine Publications and Presentations

Introduction: Genetic variants have been replicated for association with type 2 diabetes mellitus (T2D) and many of them with diabetes-related traits. Because T2D is highly prevalent in Mexico, this study aimed to test the association of CDKN2A/B, PPARGC1A, VEGFA, SIRT1 and UCP2 gene polymorphisms (rs10811661, rs8192678, rs2010963, rs7896005 and rs659366 respectively) with metabolic traits in 415 unrelated Mexican mestizos with T2D under three models of inheritance.

Material and methods: A total of 415 unrelated Mexican mestizos were genotyped by TaqMan assays. Triglycerides, cholesterol, glucose, high-density lipoprotein cholesterol (HDL-C), insulin and anthropometric measurements were determined and the HOMA-IR …

Genetic Variants Related To Cardiometabolic Traits Are Associated To B Cell Function, Insulin Resistance, And Diabetes Among American Indians: The Strong Heart Family Study, Poojitha Balakrishnan, Dhananjay Vaidya, Venkata Saroja Voruganti, Karin Haack, Jack W. Kent Jr., Kari E. North, Sandra Laston, Barbara V. Howard, Jason G. Umans, Elisa T. Lee

School of Medicine Publications and Presentations

Background: Genetic research may inform underlying mechanisms for disparities in the burden of type 2 diabetes mellitus among American Indians. Our objective was to assess the association of genetic variants in cardiometabolic candidate genes with B cell dysfunction via HOMA-B, insulin resistance via HOMA-IR, and type 2 diabetes mellitus in the Strong Heart Family Study (SHFS).

Methods and Results: We examined the association of variants, previously associated with cardiometabolic traits (∼200,000 from Illumina Cardio MetaboChip), using mixed models of HOMA-B residuals corrected for HOMA-IR (cHOMA-B), log transformed HOMA-IR, and incident diabetes, adjusted for age, sex, population stratification, and familial relatedness. …

Use Of Rho Kinase Inhibitors In Ophthalmology: A Review Of The Literature, Majid Moshirfar, Lawsen Parker, Orry C. Birdsong, Yasmyne C. Ronquillo, Daniel Hofstedt, Tirth J. Shah, Aaron T. Gomez, Phillip C Sr. Hoopes

School of Medicine Publications and Presentations

The use of Rho Kinase (ROCK) inhibitors as therapeutic agents in ophthalmology has been a topic of discussion for several years, particularly in the realm of glaucoma, Fuchs’ endothelial dystrophy, and diabetic retinopathy. In this review, the authors provide a detailed and comprehensive overview of the published literature on the use of Rho kinase inhibitors for the aforementioned purposes. A thorough search of several databases was conducted to find sufficient literature on ROCK inhibitors. This research found strong evidence demonstrating that inhibition of Rho kinase significantly decreases IOP, increases healing of the corneal endothelium, and decreases progression of diabetic retinopathy. …

Magnolin Targeting Of Erk1/2 Inhibits Cell Proliferation And Colony Growth By Induction Of Cellular Senescence In Ovarian Cancer Cells, Ji‐Hong Song, Cheol‐Jung Lee, Hyun‐Jung An, Sun‐Mi Yoo, Han C. Kang, Joo Y. Lee, Kwang D. Kim, Dae Joon Kim, Hye S. Lee, Yong‐Yeon Cho

School of Medicine Publications and Presentations

Ras/Raf/MEKs/ERKs and PI3 K/Akt/mTOR signaling pathways have key roles in cancer development and growth processes, as well as in cancer malignance and chemoresistance. In this study, we screened the therapeutic potential of magnolin using 15 human cancer cell lines and combined magnolin sensitivity with the CCLE mutaome analysis for relevant mutation information. The results showed that magnolin efficacy on cell proliferation inhibition were lower in TOV‐112D ovarian cancer cells than that in SKOV3 cells by G1 and G2/M cell cycle phase accumulation. Notably, magnolin suppressed colony growth of TOV‐112D cells in soft agar, whereas colony growth of SKOV3 cells in …

Epigenetics, Heritability And Longitudinal Analysis, Haakon E. Nustad, Marcio Almeida, Angelo J. Canty, Marissa Leblanc, Christian M. Page, Phillip E. Melton

School of Medicine Publications and Presentations

Background

Longitudinal data and repeated measurements in epigenome-wide association studies (EWAS) provide a rich resource for understanding epigenetics. We summarize 7 analytical approaches to the GAW20 data sets that addressed challenges and potential applications of phenotypic and epigenetic data. All contributions used the GAW20 real data set and employed either linear mixed effect (LME) models or marginal models through generalized estimating equations (GEE). These contributions were subdivided into 3 categories: (a) quality control (QC) methods for DNA methylation data; (b) heritability estimates pretreatment and posttreatment with fenofibrate; and (c) impact of drug response pretreatment and posttreatment with fenofibrate on DNA …

Heritability And Genetic Associations Of Triglyceride And Hdl-C Levels Using Pedigree-Based And Empirical Kinships, Nicholas B. Blackburn, Arthur Porto, Juan M. Peralta, John Blangero

School of Medicine Publications and Presentations

The heritability of a phenotype is an estimation of the percent of variance in that phenotype that is attributable to additive genetic factors. Heritability is optimally estimated in family-based sample populations. Traditionally, this involves use of a pedigree-based kinship coefficient generated from the collected genealogical relationships between family members. An alternative, when dense genotype data are available, is to directly measure the empirical kinship between samples. This study compares the use of pedigree and empirical kinships in the GAW20 data set. Two phenotypes were assessed: triglyceride levels and high-density lipoprotein cholesterol (HDL-C) levels pre- and postintervention with the cholesterol-reducing drug …

Genome-Wide Linkage Scan For Loci Influencing Plasma Triglyceride Levels, Juan M. Peralta, Nicholas B. Blackburn, Arthur Porto, John Blangero, Jac C. Charlesworth

School of Medicine Publications and Presentations

We conducted a genome-wide linkage scan to detect loci that influence the levels of fasting triglycerides in plasma. Fasting triglyceride levels were available at 4 time points (visits), 2 pre- and 2 post-fenofibrate intervention. Multipoint identity-by-descent (MIBD) matrices were derived from genotypes using IBDLD. Variance-component linkage analyses were then conducted using SOLAR (Sequential Oligogenic Linkage Analysis Routines). We found evidence of linkage (logarithm of odds [LOD] ≥3) at 5 chromosomal regions with triglyceride levels in plasma. The highest LOD scores were observed for linkage to the estimated genetic value (additive genetic component) of the log-normalized triglyceride levels in plasma. Our …

Reliability Of Genomic Predictions Of Complex Human Phenotypes, Arthur Porto, Juan M. Peralta, Nicholas B. Blackburn, John Blangero

School of Medicine Publications and Presentations

Genome-wide association studies have helped us identify a wealth of genetic variants associated with complex human phenotypes. Because most variants explain a small portion of the total phenotypic variation, however, marker-based studies remain limited in their ability to predict such phenotypes. Here, we show how modern statistical genetic techniques borrowed from animal breeding can be employed to increase the accuracy of genomic prediction of complex phenotypes and the power of genetic mapping studies.

Specifically, using the triglyceride data of the GAW20 data set, we apply genomic-best linear unbiased prediction (G-BLUP) methods to obtain empirical genetic values (EGVs) for each triglyceride …

Research Symposium - Health Disparities 2018: Closing The Gap, The University Of Texas Rio Grande Valley. School Of Medicine

School of Medicine Publications and Presentations

With the theme of “Health Disparities: Closing the Gap,” this symposium aims to showcase the work done by researchers here in the Valley and beyond toward improving the health and well-being of the communities they serve and society as a whole.

Cognitive Behavioral Therapy Versus Eye Movement Desensitization And Reprocessing In Patients With Posttraumatic Stress Disorder: Systematic Review And Meta-Analysis Of Randomized Clinical Trials, Ali M. Khan, Sabrina Dar, Rizwan A. Ahmed, Ramya Bachu, Mahwish Adnan, Vijaya P. Kotapati

School of Medicine Publications and Presentations

Background

Post-traumatic stress disorder (PTSD) is prevalent in children, adolescents and adults. It can occur alone or in comorbidity with other disorders. A broad range of psychotherapies such as cognitive behavioral therapy (CBT) and eye movement desensitization and reprocessing (EMDR) have been developed for the treatment of PTSD.

Aim

Through quantitative meta-analysis, we aimed to compare the efficacy of CBT and EMDR: (i) relieving the post-traumatic symptoms, and (ii) alleviating anxiety and depression, in patients with PTSD.

Methods

We systematically searched EMBASE, Medline and Cochrane central register of controlled trials (CENTRAL) for articles published between 1999 and December 2017. Randomized …

Efficacy And Safety Of Varenicline For Smoking Cessation In Schizophrenia: A Meta-Analysis, Saeed Ahmed, Sanya Virani, Vijaya P. Kotapati, Ramya Bachu, Mahwish Adnan, Ali M. Khan

School of Medicine Publications and Presentations

Objective: Smoking represents a major public health problem among patients with schizophrenia. To this end, some studies have investigated the efficacy of varenicline for facilitating smoking cessation in schizophrenia patients. The present review seeks to synthesize the results of these studies as well as document the reported side effects of using this medication.

Methods: An electronic search was performed using five major databases: PubMed, Scopus, EMBASE, Web of Science, and Cochrane Library. Included in the current analysis were randomized clinical trials (RCTs) that have investigated the effect of varenicline in promoting smoking cessation in patients with schizophrenia. Risk of …

Case Report: A Hard Cyst To Swallow, Anjalee Choudhury, Joshua Wood, Kristan Diaz-Rios, Jyothi Swarup

School of Medicine Publications and Presentations

One day old neonate was born at 37 weeks gestation to a 41-year-old Gravida 5 Para 5 born via uncomplicated caesarean section. A physical exam of the newborn had unremarkable findings except for minor skin tags on the neck and a cleft palate.

Protein Tyrosine Phosphatases As Potential Regulators Of Stat3 Signaling, Mihwa Kim, Liza D. Morales, Ik-Soon Jang, Yong-Yeon Cho, Dae Joon Kim

School of Medicine Publications and Presentations

The signal transducer and activator of transcription 3 (STAT3) protein is a major transcription factor involved in many cellular processes, such as cell growth and proliferation, differentiation, migration, and cell death or cell apoptosis. It is activated in response to a variety of extracellular stimuli including cytokines and growth factors. The aberrant activation of STAT3 contributes to several human diseases, particularly cancer. Consequently, STAT3-mediated signaling continues to be extensively studied in order to identify potential targets for the development of new and more effective clinical therapeutics. STAT3 activation can be regulated, either positively or negatively, by different posttranslational mechanisms including …

Anxiety Modulates The Relation Between Attention-Deficit/Hyperactivity Disorder Severity And Working Memory-Related Brain Activity, Dennis Van Der Meer, Pieter J. Hoekstra, Daan Van Rooij, Anderson M. Winkler, Hanneke Van Ewijk, Dirk J. Heslenfeld, Jaap Oosterlaan, Stephen V. Faraone, Barbara Franke, Jan K. Buitelaar

School of Medicine Publications and Presentations

OBJECTIVES: Individuals with attention-deficit/hyperactivity disorder (ADHD) often have heightened levels of anxiety, which has been associated with worse performance on working memory tasks. Knowledge of the neural pathways underlying the combined presence of ADHD and anxiety may aid in a better understanding of their co-occurrence. Therefore, we investigated how anxiety modulates the effect of ADHD severity on neural activity during a visuospatial working memory (VSWM) task.

METHODS: Neuroimaging data were available for 371 adolescents and young adults participating in the multicentre cohort study NeuroIMAGE (average age 17.1 years). We analysed the effects of ADHD severity, anxiety severity and their …

Carglumic Acid Treatment Of A Patient With Recurrent Valproic Acid-Induced Hyperammonemia: A Rare Case Report, Yasar Sattar, Saad Wasiq, Waqas Yasin, Ali M. Khan, Mahwish Adnan, Shristi Shrestha, Nirav B. Patel, Sharaad Latchana

School of Medicine Publications and Presentations

Valproic acid, first manufactured as an anticonvulsant, is commonly used to treat both neurological and psychiatric conditions. A rare and deadly side effect of this medication is hyperammonemia, presenting as lethargy, confusion, seizure, and, ultimately, coma. In rare circumstances, hyperammonemia can be recurrent and devastating, especially in patients with an underlying N-acetyl glutamate synthase (NAGS) deficiency, as the valproic acid can enhance this enzyme deficiency and inhibit the conversion of ammonia into urea in the liver. For these subtypes of patients, the United States Food and Drug Administration (US FDA) has recently approved carglumic acid, a medication that can act …

Modeling Methylation Data As An Additional Genetic Variance Component, Marcio Almeida, Juan M. Peralta, Jose Garcia, Vincent P. Diego, Harald H. H. Goring, Sarah Williams-Blangero, John Blangero

School of Medicine Publications and Presentations

High-throughput platforms allow the characterization of thousands of previously known methylation sites. These platforms have great potential for investigating the epigenetic effects that are partially responsible for gene expression control. Methylation sites provide a bridge for the investigation of real-time environmental contributions on genomic events by the alteration of methylation status of those sites. Using the data provided by GAW20’s organization committee, we calculated the heritability estimates of each cytosine-phosphate-guanine (CpG) island before and after the use of fenofibrate, a lipid-control drug. Surprisingly, we detected substantially high heritability estimates before drug usage. This somewhat unexpected high sample correlation was corrected …

Postictal Mania Versus Postictal Psychosis, Sukaina Rizvi, Faiza Farooq, Shanila Shagufta, Ali M. Khan, Yasir Masood, Hina Saeed

School of Medicine Publications and Presentations

PIM (postictal mania) or PIP (postictal psychosis) usually comes on after a single episode or a seizure cluster of generalized tonic-clonic or complex partial secondarily generalized seizures. Patients maintain a lucid interval of clear consciousness which precedes a psychotic episode. The symptoms may include insomnia, hallucinations, delusions, elated expansive mood, euphoria, and distractibility. We present a case of a 62-year-old male with PIP or mania preceding an episode of seizure. In the light of this case report, we illustrate the importance of being vigilant about the psychotic symptoms in a patient with epilepsy in order to minimize the morbidity.

Mirna-205 Nanoformulation Sensitizes Prostate Cancer Cells To Chemotherapy, Prashanth K.B. Nagesh, Pallabita Chowdhury, Elham Hatami, Vijaya K. N. Boya, Vivek K. Kashyap, Sheema Khan, Bilal B. Hafeez, Subhash C. Chauhan, Meena Jaggi, Murali M. Yallapu

School of Medicine Publications and Presentations

The therapeutic application of microRNA(s) in the field of cancer has generated significant attention in research. Previous studies have shown that miR-205 negatively regulates prostate cancer cell proliferation, metastasis, and drug resistance. However, the delivery of miR-205 is an unmet clinical need. Thus, the development of a viable nanoparticle platform to deliver miR-205 is highly sought. A novel magnetic nanoparticle (MNP)-based nanoplatform composed of an iron oxide core with poly(ethyleneimine)-poly(ethylene glycol) layer(s) was developed. An optimized nanoplatform composition was confirmed by examining the binding profiles of MNPs with miR-205 using agarose gel and fluorescence methods. The novel formulation was applied …

Role Of Ampk And Pparα In The Anti-Skin Cancer Effects Of Ursolic Acid, Jacob Junco, Jiyoon Cho, Anna Mancha, Gunjan Malik, Sung-Jen Wei, Dae Joon Kim, Huiyun Liang, John Digiovanni, Thomas J. Slaga

School of Medicine Publications and Presentations

The phytonutrient ursolic acid (UA), present in apples, rosemary, and other plant sources, has anti-cancer properties in a number of systems, including skin cancers. However, few reports have examined upstream mechanisms by which UA may prevent or treat cancer. Recent reports have indicated UA induces death of cancer cell lines via AMP-activated protein kinase (AMPK), an energy-sensing kinase which possesses both pro-metabolic and anti-cancer effects. Other studies have shown UA activates peroxisome proliferator activated receptor α (PPARα) and the glucocorticoid receptor (GR). Here, we found the cytotoxic effect of UA in skin carcinoma cells required AMPK activation. In addition, two …

Fast And Powerful Genome Wide Association Of Dense Genetic Data With High Dimensional Imaging Phenotypes, Habib Ganjgahi, Anderson M. Winkler, David C. Glahn, John Blangero, Brian Donohue, Peter Kochunov, Thomas E. Nichols

School of Medicine Publications and Presentations

Genome wide association (GWA) analysis of brain imaging phenotypes can advance our understanding of the genetic basis of normal and disorder-related variation in the brain. GWA approaches typically use linear mixed effect models to account for non-independence amongst subjects due to factors, such as family relatedness and population structure. The use of these models with high-dimensional imaging phenotypes presents enormous challenges in terms of computational intensity and the need to account multiple testing in both the imaging and genetic domain. Here we present a method that makes mixed models practical with high-dimensional traits by a combination of a transformation applied …

Schizophrenia In Digeorge Syndrome: A Unique Case Report, Sukaina Rizvi, Ali M. Khan, Hina Saeed, Akeem M. Aribara, Alexis Carrington, Alexa Griffiths, Abdul Mohit

School of Medicine Publications and Presentations

Herein we present the unique case of a 21-year-old African American woman who presented with psychotic features and the incidental finding of basal ganglia calcifications on computed tomography (CT) scan of the head. She was initially presumed to have Fahr’s syndrome in the context of idiopathic bilateral basal ganglia calcifications and psychotic features. Genetic testing performed revealed the deletion of 22q11.2, thus establishing the diagnosis of DiGeorge syndrome. This case highlights the importance of noticing subtle physical exam findings along with laboratory findings as this led to the diagnosis of DiGeorge syndrome for this patient. This case is unique in …