Medical Specialties Commons^™

Knowledge Of Breast Cancer And Screening Methods Among Rural Women In Southwest Nigeria, Rowland Edet, Oluwayimika Ekundina

Department of Sociology: Faculty Publications

The objective of this study was to assess the awareness of rural women on breast cancer and its screening methods in Southwest Nigeria. Descriptive cross-sectional survey design with the aid of a semi-structured questionnaire was used to generate data among 422 rural women in selected communities in Egbeda local government area of Ibadan. The qualitative data was generated through in-depth interviews among rural women and key informant interviews among health workers in the communities. The study revealed that only 63.7% were aware of breast cancer screening methods compared to 31.6% who were not aware. The commonly known screening method among …

Hpv Vaccination In Females: The Role Of Primary Health Care And Primary Health Care Providers, Brooke Bouza

Graduate Theses and Dissertations

Two reasons for subpar coverage of the Human papillomavirus (HPV) vaccine are missed clinical opportunities and nonacceptance of the vaccine upon recommendation from a medical provider. The purpose of study one was to examine factors associated with access and adherence to physician’s recommendations in association with HPV vaccine uptake. Data were obtained from National Health Interview Survey (2017). Variables theoretically related to clinical opportunities and adherence to physician’s recommendations were examined in association with HPV vaccine uptake. Univariate logistic regressions were run to determine the associations between the aforementioned variables and uptake of the HPV vaccine. Multinomial logistic regressions were …

Combined Lenvatinib And Pembrolizumab As Salvage Therapy In Advanced Adrenal Cortical Carcinoma, Sara Bedrose, Kevin Charles Miller, Lina Altameemi, Mohamed S Ali, Sameh Nassar, Naveen Garg, Marilyne Daher, Keith D Eaton, Jeffrey Thomas Yorio, Davey B Daniel, Matthew Campbell, Keith C Bible, Mabel Ryder, Ashish V Chintakuntlawar, Mouhammed Amir Habra

Faculty, Staff and Students Publications

BACKGROUND: There is no effective systemic therapy for metastatic adrenal cortical carcinoma (ACC) after failure of platinum-based chemotherapy. The efficacies of single-agent oral multikinase inhibitors (MKIs) or salvage immune checkpoint inhibitors (CPIs) have been very limited. It is unknown whether combining CPIs, such as pembrolizumab (PEM), with other therapies, such as MKIs, could yield higher response rates in ACC, yet this combination has shown promise in other cancers. Herein, we describe the first case series using PEM in combination with the MKI lenvatinib (LEN) in patients with progressive, metastatic ACC.

METHODS: A retrospective case series describing the use of LEN/PEM …

Impact Of Covid-19 On Pediatric Gastroenterology Fellow Training In North America, Daniel Mallon, John F Pohl, Uma P Phatak, Melissa Fernandes, John M Rosen, Sarah S Lusman, Cade M Nylund, Candi S Jump, Aliza B Solomon, Arvind Srinath, Andrew Singer, Rula Harb, Norberto Rodriguez-Baez, Kristin L Whitfield Van Buren, Shifra Koyfman, Riha Bhatt, Dellys M Soler-Rodriguez, Mamata Sivagnanam, Christine K Lee, Naspghan Training Committee Covid-19 Survey Working Group

Faculty, Staff and Students Publications

BACKGROUND: The COVID-19 pandemic has drastically changed healthcare systems and training around the world. The Training Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition sought to understand how COVID-19 has affected pediatric gastroenterology fellowship training.

METHODS: A 21 question survey was distributed to all 77 pediatric gastroenterology fellowship program directors (PDs) in the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition program director database via email on April 7. Responses collected through April 19, 2020 were analyzed using descriptive statistics.

RESULTS: Fifty-one of 77 (66%) PDs from the United States, Canada, and Mexico responded to …

Renal Trajectory Patterns Are Associated With Postdischarge Mortality In Patients With Cirrhosis And Acute Kidney Injury, Ayse L Mindikoglu, Ruben Hernaez, Yan Liu, Jennifer R Kramer, Thomas Taylor, Abbas Rana, Fasiha Kanwal

Faculty, Staff and Students Publications

BACKGROUND & AIMS: Little is known about long-term outcomes of acute kidney injury (AKI) in patients with cirrhosis. Outcomes can vary with stage of AKI, chronic kidney disease, and trajectory of renal function.

METHODS: We collected data from the Department of Veterans Affairs and identified 6917 patients with cirrhosis who developed AKI during hospitalization at any of its 127 hospitals, from 2004 through 2014. We used latent class analysis of serial creatinine measurements during the index hospitalization to determine trajectories of renal function.

RESULTS: Overall, 32% of patients died within 90 days of discharge from the hospital and 48% of …

Burden-Of-Illness Associated With Bleeding-Related Hospitalizations In Atrial Fibrillation Patients: Findings From The Nationwide Readmission Database, Benjamin Miao, Monique Miller, Belinda Lovelace, Anne Beaubrun, Kelly Mcneil-Posey, Mark J Alberts, William Frank Peacock, Olivia S Costa, Charles Michael White, Craig I Coleman

Faculty, Staff and Students Publications

Introduction  A paucity of contemporary data examining bleeding-related hospitalization outcomes in atrial fibrillation (AF) patients exists.

Methods  Adults in the Nationwide Readmissions Database (January 2016–November 2016) with AF and hospitalized for intracranial hemorrhage (ICH), gastrointestinal, genitourinary, or other bleeding were identified. Association between bleed types and outcomes were assessed using multivariable regression (gastrointestinal defined as referent) and reported as crude incidences and adjusted odds ratios (ORs) or mean differences with 95% confidence intervals (CIs).

Results  In total, 196,878 index bleeding-related hospitalizations were identified in this AF cohort (CHA2DS2VASc score ≥2 in 95.1%), with 70.8% classified as gastrointestinal. The overall incidences …

Association Analysis Of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci With 20,871 Lung Cancer Cases And 15,971 Controls, Yuzhuo Wang, Olga Y Gorlova, Ivan P Gorlov, Meng Zhu, Juncheng Dai, Demetrius Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Gary E Goodman, Stig E Bojesen, Maria Teresa Landi, Mattias Johansson, Angela Risch, Heunz-Erich Wichmann, Heike Bickeboller, David C Christiani, Gad Rennert, Susanne M Arnold, Paul Brennan, John K Field, Sanjay Shete, Loïc Le Marchand, Olle Melander, Hans Brunnstrom, Geoffrey Liu, Rayjean J Hung, Angeline S Andrew, Lambertus A Kiemeney, Shanbeh Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil E Caporaso, Penella J Woll, Philip Lazarus, Matthew B Schabath, Melinda C Aldrich, Victoria L Stevens, Hongxia Ma, Guangfu Jin, Zhibin Hu, Christopher I Amos, Hongbing Shen

Faculty, Staff and Students Publications

BACKGROUND: A substantial proportion of cancer driver genes (CDG) are also cancer predisposition genes. However, the associations between genetic variants in lung CDGs and the susceptibility to lung cancer have rarely been investigated.

METHODS: We selected expression-related single-nucleotide polymorphisms (eSNP) and nonsynonymous variants of lung CDGs, and tested their associations with lung cancer risk in two large-scale genome-wide association studies (20,871 cases and 15,971 controls of European descent). Conditional and joint association analysis was performed to identify independent risk variants. The associations of independent risk variants with somatic alterations in lung CDGs or recurrently altered pathways were investigated using data …

Glycemic Control And Infections Among Us Hemodialysis Patients With Diabetes Mellitus, Jinnie J Rhee, Yuanchao Zheng, Sai Liu, Maria E Montez-Rath, Richard J Hamill, Julie H Ishida, Wolfgang C Winkelmayer

Faculty, Staff and Students Publications

INTRODUCTION: Patients with diabetes mellitus (DM) on hemodialysis (HD) may be particularly vulnerable to infections.

METHODS: We used merged data from the United States Renal Data System and electronic health records data from a large US dialysis provider to retrospectively examine the association between glycemic control and infections in these patients. Adult patients with DM aged ≥18 years who initiated in-center maintenance HD treatment from 2006 to 2011 and survived >90 days were included. Quarterly mean time-averaged hemoglobin A1c (HbA1c) values were categorized into

RESULTS: In a cohort of 33,753 eligible patients, those with higher HbA1c levels had higher rates …

Low Yield Of Hepatitis C Infection In An Outreach Screening Program In Harris County, Texas, Hyun-Seok Kim, Rosalia Guerrero, Shane W Reader, Maria Daheri, Maya Balakrishnan, Catherine L Troisi, Hashem B El-Serag, Aaron P Thrift

Faculty, Staff and Students Publications

A community outreach hepatitis C virus (HCV) infection screening program provided low yield of detecting HCV-infected patients, linking them to our hepatology clinic for treatment. Our data underscore that most of the yield was related to addiction centers and birth cohort; these groups should be targeted by future interventions.

The Absence Of Prophylactic Antibiotics Administration And The Surgical Site Infections Rate In Mohs Micrographic Surgery, Riva Ambardina Pradita, Larisa Paramitha Wibawa

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: The use of prophylactic antibiotics in dermatologic surgery, particularly in Mohs micrographic surgery (MMS), remains a gray area. Despite the low rate of surgical site infection (SSI), SSI can result in some significant morbidities. Thus, numerous dermatologists keep administering prophylactic antibiotics in MMS.

Method: A search was conducted to identify clinically significant topics followed by literature review through the main available medical literature database. The three selected studies that met the inclusion and exclusion criteria were then critically assessed for their validity, importance, and applicability using the guidance from Centre for Evidence-Based Medicine for Critical Appraisal …

Case Series Of Primary Psychiatric Skin Disorders With Multi-Disciplinary Approach, Lusiana Lusiana, Rizky Lendi Prayogo, Shannaz Nadia Yusharyahya, Irma Bernadette S. Sitohang, Kusmarinah Bramono

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: The incidence of psychodermatologic diseases, a group of skin abnormalities associated with psychosomatic factor, are increasing recently. About 20-40% patients with skin symptoms have concurrent psychiatric problems which are often difficult to diagnose and treat. The new classification of primary psychiatric skin disorders are delusional disorders, obsessive-compulsive and related disorders, and factitious disorders. This classification could be used for effective treatment in each patient which involves multi-disciplinary approach, including dermatology, psychiatry and other discipline if necessary.

Case Illustration: The first case was a 39-year-old unmarried female, with anemia and dermatitis artefacta occurred as wound due to …

Narrowband Ultraviolet B Phototherapy Combined With Topical Treatment For Vitiligo In 2 Geriatric Patients, Rinadewi Astriningrum, Lili Legiawati, Vivianne Chandrakesuma, Department Of Dermatology And Venereology, Faculty Of Medicine Universitas Indonesia – Dr. Cipto Mangunkusumo National Central General Hospital Jakarta, Indonesia Shannaz Nadia Yusharyahya

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Narrowband ultraviolet B (NB-UVB) become the mainstay of widespread vitiligo therapy due to its great efficacy and safety compared with other modalities. The use of NB-UVB for vitiligo has been widely studied in adult patients, while studies on geriatric patients specifically are still very limited. This report aims to show the immediate response after the initial treatment, side effects of therapy, and other problems that were encountered during therapy in two geriatric patients with vitiligo who have been followed up for more than 12 months.

Case Illustration: We reported two geriatric patients with vitiligo treated with NB-UVB …

Association Of Zinc Intake & Serum Zinc Levels With Acne Severity, Chintia Otami, Novita Chandra, Irma Bernadette S. Sitohang

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Recent studies have suggested the relationship between diet and acne, and zinc plays a role through its anti-inflammatory mechanism. This study aimed to determine the association between zinc intake and serum zinc levels with acne severity.

Methods: A comparative cross-sectional study was conducted to assess the difference in zinc intake and serum zinc levels with acne severity based on Indonesian Acne Expert Meeting (IAEM) criteria. Sixty patients with acne in Dr. Cipto Mangunkusumo General Hospital were selected. The effect of zinc intake on acne severity was analyzed via unpaired T test, whereas the effect of serum zinc …

Validity And Reliability Of Melasma Quality Of Life Scale Questionnaire In Bahasa Indonesia For Female Patients, Rubby Aditya, Aida S. D. Hoemardani, Irma Bernadette, Levina Chandra, Rajesh Balkrisnan

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: At present, there is no questionnaire in Bahasa Indonesia to assess the quality of life of female patients with melasma. The aim of this study is to adapt the existing English questionnaire, MELASQOL, into Bahasa Indonesia, and to assess its validity and reliability.

Methods: This is a cross-sectional study consisting of two stages. The initial stage is cross-cultural and language adaptation. The final stage is the validity and reliability test. The original MELASQOL questionnaire is in English and is adapted into Bahasa Indonesia according to the cross-cultural and language adaptation guidelines. The subjects were recruited from two …

The Association Between Blotting Paper Application And Severity Of Acne Vulgaris Among Medical Students, Ivana Beatrice Alberta, Melyawati Hermawan, Soegianto Ali

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Acne vulgaris is an inflammatory condition of the pilosebaceous glands caused by various factors including excessive excretion of sebaceous glands. Excess sebum can be reduced using oil blotting paper (OBP), a thin paper with microspores that absorb the oil on the face. This study was conducted to determine the association between OBP application and sebum excretion according to the Oily Skin Self- Assessment Scale (OSSAS) questionnaire and acne severity according to the Global Acne Grading System (GAGS) questionnaire.

Methods: This experimental study was conducted in 2017 among 60 students aged 17–22 years at the Faculty of Medicine, …

The Applicability Of Sonic Hedgehog In Mixed Type Basal Cell Carcinoma, Zahra Ayu Lukita Sari, Yulia Farida Yahya, Theresia Lumban Toruan

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Basal cell carcinoma (BCC) is the most common skin malignancy found in nonmelanoma skin cancer. There are multiple factors contribute to risks for BCC but the underlying mechanism is genetic alteration. The Sonic hedgehog (SHH) pathway is implicated in the etiology of the most common BCC. We reported BCC nodular type in the tip of nasal region with increase SHH.

Case Illustration: 50 years old man, presented with hyperpigmented tumor on the nasal tip which easily bleed since 6 months ago. Dermatological examination: the tip of nasal region: a solitaire irregular immobile hyperpigmented tumor, with the size …

Nail Involvement In Langerhans Cell Histiocytosis: Diagnostic And Prognostic Clues, Sondang P. Sirait, Rahadi Rihatmadja, Rizky Lendl Prayogo, Riesye Arisanty, Gisca Melviana, Kuniaki Ohara

Journal of General - Procedural Dermatology and Venereology Indonesia

Introduction: Despite its rarity, nail involvement in Langerhans cell histiocytosis (LCH) may show various clinical presentations. This study aims to show the roles of nail involvement in LCH patients as the diagnostic and prognostic clues.
Case illustrations: We presented four cases of multisystem LCH in children which were already confirmed by skin biopsy with various nail abnormalities. We were able to perform nail biopsy in two patients and confirmed the nail involvement. Histopathological examination showed the infiltration of Langerhans cells characterized by indented/reniform nuclei and CD1a expressions. All patients had high-risk organ involvements.

Discussion: Langerhans cells may infiltrate …

Spontaneous Regression Of Divided Nevus Of The Eyelid Evaluated By Dermoscopy : Is It Hypopigmentation After Regression Or Vitiligo, Danang Tri Wahyudi, Izzah Aulia, Aida S. D. Hoemardani, Agassi Suseno Sutarjo

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Divided nevus, also known as “kissing nevus,” is a rare form of congenital melanocytic nevus that occurs on opposing margins of upper and lower eyelids. A paucity of literature on this rare anomaly exists, with most being case reports and series. Moreover, regression of this lesion was rarely reported.

Case Illustration: We present a rare case of congenital divided nevus of the eyelid that regressed after eight years, confirmed with dermoscopy. A six-year-old boy presented to the Dharmais National Cancer Hospital with two pigmented macules on the upper and lower right eyelid since birth. A year ago, …

Dynamic Ultrasound Uniquely Reveals Anterior Capsular Tear Communicating With Vastus Intermedius Fibers, Shiv J Patel, Jasvinder A Singh, Max H Epstein, Prathap Jayaram

Faculty, Staff and Students Publications

We present a case of an anterior capsular tear of the right knee in a previously healthy, active individual. The patient was a 31-year-old male seen one month after the onset of throbbing anterior right knee pain, which progressed to sharp suprapatellar pain over the next three months. Both dynamic ultrasound (US) and MRI were obtained. Dynamic US revealed a tear of the anterior capsule of the right knee complicated by a suprapatellar effusion communicating into the vastus intermedius fibers of the quadriceps tendon. However, these findings were not evident on MRI. In addition to discussing this unique pathology, we …

Dermatology Resident Training On Depression Screening: A Cross-Sectional Survey, Kaitlyn L Streight, Harry Dao, Soo Jung Kim

Faculty, Staff and Students Publications

Background

Many dermatologic diseases are implicated in the development of depression. Currently, there is no literature addressing the extent of dermatology residency training on depression screening.

Objective

Our study aimed to determine the extent of dermatology residency training on depression screening to potentially improve education in this area.

Methods

We designed a 12-question survey to assess the level of resident training and comfort in depression screening for patients with acne vulgaris, atopic dermatitis, psoriasis, hidradenitis suppurativa, and skin cancer. Fifty-six residents completed the survey, and data for each question was analysed in aggregate.

Results

Participants found depression screening most important …

Towards Effective Management Protocols: A Transnational Review Of The State-Of-The-Art Of Coronavirus Disease 2019 (Covid-19) In Pakistan And The United Arab Emirates, Maryam Ehtesham, Talal Almas, Absam Akbar, Muhammad Ali Niaz, Noreen Zia

Medical College Documents

Coronavirus disease 2019 (COVID-19) has proliferated rapidly in Pakistan, adversely affecting every province. The grave repercussions that the pandemic has elicited in Pakistan have evoked a dire need for drastic measures to be employed at both the governmental and provincial levels. Due to the inequitable appropriation of healthcare resources with respect to the various provinces, however, a stark contrast in terms of morbidity and mortality persists. Furthermore, considering that Pakistani citizens constitute a noteworthy proportion of expatriates residing in the United Arab Emirates (UAE) and the close proximity of the two countries, due consideration of the situation in the UAE …

Differences In Angiographic Profile And Immediate Outcome Of Primary Percutaneous Coronary Intervention In Otherwise Risk-Free Young Male Smokers, Salik Ahmed, Sanam Khowaja, Saher Khowaja, Tariq Ashraf, Kanwal Aamir, Mahesh K. Batra, Musa Karim, Muhammad Anis M. Ahmedani, Syed Z. Jamal

Section of Internal Medicine

Introduction: Cigarette smoking is a well-established risk factor for the development and progression of coronary artery disease (CAD) and it is strongly related to cardiac morbidity and mortality. Therefore, this study aimed to compare the angiographic profile and immediate clinical outcomes in young male smokers and non-smokers without any other cardiac risk factors presented with ST-elevation myocardial infarction (STEMI).
Methods: This study includes young (≤40 years) male patients presented without cardiac risk factors other than smoking. Angiographic profile and immediate outcome of primary percutaneous coronary intervention (PCI) were collected from the hospital database.
Results: A total of 580 young male …

Emergency Department Admissions During Covid-19: Implications From The 2002-2004 Sars Epidemic, Muhammad Musaab Munir, Russell S. Martins, Asad Mian

Medical College Documents

No abstract provided.

Highlights Of Studies In Cardiovascular Disease Prevention Presented At The 2020 American College Of Cardiology Annual Scientific Session, Xiaoming Jia, Mahmoud Al Rifai, Jing Liu, Anandita Agarwala, Martha Gulati, Salim S Virani

Faculty, Staff and Students Publications

PURPOSE OF REVIEW: The review highlights selected studies related to cardiovascular disease (CVD) prevention that were presented at the American College of Cardiology 2020 Virtual Scientific Session (ACC.20)/World Cardiology Congress (WCC).

RECENT FINDINGS: The studies reviewed include clinical trials on the efficacy and safety of alirocumab (Study in Participants with Homozygous Familial Hypercholesterolemia [ODYSSEY HoFH]) and evinacumab in the treatment of homozygous familial hypercholesterolemia (HoFH); Evaluating the Efficacy of E-cigarettes for Smoking Cessation (E3); the use of renal denervation in the treatment of hypertension (SPYRAL HTN-OFF MED PIVOTAL); and the assessment of vericiguat in the treatment of heart failure (A …

The Clinical Features Of Co-Circulating Dengue Viruses And The Absence Of Dengue Hemorrhagic Fever In Pakistan, Erum Khan, Dhani Prakoso, Kehkashan Imtiaz, Faisal Malik, Joveria Farooqi, Maureen T. Long, Kelli L. Barr

Department of Pathology and Laboratory Medicine

Dengue virus (DENV) is the most common and widespread arboviral infection worldwide. Though all four DENV serotypes cocirculate in nature, the clinicopathological framework of these serotypes is undefined in Pakistan. A cross-sectional, observational study was performed to document the circulation of various arboviruses in the Sindh region of Pakistan. Here we describe a population of patients diagnosed with DENV spanning a 2-year period. This study used an orthogonal system of NS1 antigen ELISA followed by RT-PCR for DENV detection and subtyping. A total of 168 NS1 positive patients were evaluated of which 91 patients were serotyped via RT-PCR. There was …

Acute Tubular Injury In A Patient On A Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitor, June K Pickett, Maulin Shah, Michael Gillette, Peter Jones, Salim Virani, Christie Ballantyne, Vijay Nambi

Faculty, Staff and Students Publications

A 72-year-old man with coronary artery disease, statin intolerance, and chronic kidney disease stage IIIa was initiated on alirocumab, a proprotein convertase subtilisin/kexin type 9 inhibitor, and developed acute kidney injury. A kidney biopsy was performed and suggested acute tubular injury. The serum creatinine returned to baseline after discontinuation of alirocumab. (Level of Difficulty: Intermediate.)

Failure To Thrive - An Overlooked Manifestation Of Kmt2b-Related Dystonia: A Case Presentation., Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose N. Gelineau-Morel, Shimul Chowdhury, Rady Children’S Institute For Genomic Medicine Investigators, Jennifer Friedman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene.

CASE PRESENTATION: We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the …

Multi-Community Cardiopulmonary Resuscitation Education By Medical Students, Kenton L Anderson, Kian Niknam, Larry Laufman, Stefanie S Sebok-Syer, Sara Andrabi

Faculty, Staff and Students Publications

Introduction One purpose of the hands-only cardiopulmonary resuscitation (HOCPR) program is to simplify CPR instruction to encourage more bystanders to take action during cardiac arrest. Although the program has been successfully implemented in traditional classroom settings, the utility of large-scale training events has not been well-explored. We hypothesized that CPR knowledge and comfort levels would increase through a large-scale, multi-community HOCPR training event. We also explored what effect this training event had on perceived barriers to bystander-performed CPR. Methods A convenience sample participated in HOCPR training on a single day across 10 Texas cities. A sub-sample completed training questionnaires, including …

A Genome-Wide Association Study Identifies Two Novel Susceptible Regions For Squamous Cell Carcinoma Of The Head And Neck, Sanjay Shete, Hongliang Liu, Jian Wang, Robert Yu, Erich M Sturgis, Guojun Li, Kristina R Dahlstrom, Zhensheng Liu, Christopher I Amos, Qingyi Wei

Faculty, Staff and Students Publications

To identify genetic variants for risk of squamous cell carcinoma of the head and neck (SCCHN), we conducted a two-phase genome-wide association study consisting of 7,858,089 SNPs in 2,171 cases and 4,493 controls of non-Hispanic white, of which 434,839 typed and 7,423,250 imputed SNPs as the discovery. SNPs with P <1×10–3 were further validated in the OncoArray study of oral and pharynx cancer (5,205 cases and 3,232 controls of European ancestry) from dbGaP. Meta-analysis of the discovery and replication studies identified one novel locus 6p22.1 (P = 2.96×10–9 for the leading rs259919) and two cancer susceptibility loci 6p21.32 (rs3135001, HLA-DQB1) and 6p21.33 (rs1265081, CCHCR1) associated with SCCHN risk. Further stratification by tumor site revealed four known cancer loci (5p15.33, 6p21.32, 6p21.33, and 2p23.1) associated with oral cavity cancer risk and oropharyngeal cancer risk, respectively. In addition, one novel locus 18q22.2 (P = 2.54×10–9 for the leading SNP rs142021700) was identified for hypo-pharynx and larynx cancer risk. For SNPs in those reported or novel loci, we also performed functional annotations by bioinformatics prediction and eQTL analysis. Collectively, our identification of four reported loci (2p23.1, 5p15.33, 6p21.32, and 6p21.33) and two novel loci (6p22.1 and 18q22.2) for SCCHN risk highlight the importance of HLA loci for oropharyngeal cancer risk, suggesting that immunologic mechanisms are implicated in the etiology of this subset of SCCHN.

Investigation Of Japanese Encephalitis Virus As A Cause Of Acute Encephalitis In Southern Pakistan, April 2015-January 2018, Tazeen Fatima, Abida Rais, Erum Khan, Susan L. Hills, Trudy V. Chambers, Aneeta Hotwani, Shahida Qureshi, Saad Shafqat, Saima Malik, Farah Qamar, Fatima Mir, Anthony A. Marfin, Anita K. M. Zaidi, Asif Raza Khowaja, Sadia Shakoor

Department of Pathology and Laboratory Medicine

Background: Japanese encephalitis (JE) occurs in fewer than 1% of JE virus (JEV) infections, often with catastrophic sequelae including death and neuropsychiatric disability. JEV transmission in Pakistan was documented in 1980s and 1990s, but recent evidence is lacking. Our objective was to investigate JEV as a cause of acute encephalitis in Pakistan.
Methods: Persons aged ≥1 month with possible JE admitted to two acute care hospitals in Karachi, Pakistan from April 2015 to January 2018 were enrolled. Cerebrospinal fluid (CSF) or serum samples were tested for JEV immunoglobulin M (IgM) using the InBios JE DetectTM assay. Positive or equivocal samples …