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Genetic Investigation Reveals Novel Pathways For Disease Pathogenesis In Inherited And Mosaic Skin Disorders, Shayan Cheraghlou

Yale Medicine Thesis Digital Library

Introduction

Genetic mosaicism underlies many inherited and acquired cutaneous disorders. Despite the barriers to genetic analysis of mosaic disorders, next generation sequencing has led to substantial progress in understanding their pathogenesis, which has significant implications for clinical management and genetic counselling. Advances in paired and deep sequencing technologies in particular have made study of mosaic disorders more feasible. In this study, we aim to utilize next generation sequencing technologies in order to evaluate the genetic cause of three mosaic cutaneous disorders: epidermolytic acanthoma (EA), progressive symmetric erythrokeratodermia (PSEK), and mosaic childhood acantholytic dyskeratosis.

Methods

Using genomic DNA extracted from paraffin-embedded …

Yale Medicine Magazine, Winter 2020, Yale University. School Of Medicine

Yale Medicine Magazine - alumni bulletin and magazine

This is the Winter 2020 issue of Yale Medicine Magazine, v. 54, no. 2. Prepared in cooperation with the alumni and development offices at the School of Medicine. Earlier volumes are called Yale School of Medicine alumni bulletins, dating from v.1 (1953) through v.13 (1965) and Yale Medicine: alumni bulletin of the School of Medicine, v.1 (1965) through v. 52, no.1. (Autumn 2017).

Antioxidant Compounds From Marine Seaweeds And Their Mechanism Of Action, Trishna Debnath, Eun-Kyung Kim, Kwang-Geun Lee, Narayan Chandra Debnath, Ramkumar Mathur

Journal of Marine Research

Investigation of natural products has moved toward marine environments as they are a source of many biologically active agents. The natural antioxidant compounds isolated from seaweeds provide a valuable contribution to the innovation of new drugs for chronic diseases associated with oxidative stress. While the antioxidant activity and nutritional benefits of various seaweed products are well recognized, their proper utilization as antioxidants remains at initial stages that require further investigative studies. This review provides a detailed study of isolated antioxidant compounds from seaweeds and their major mechanism of action by focusing on the reports from 2015 to 2019. The report …

Effects Of Hard Clam (Mercenaria Mercenaria) Density And Bottom Shear Stress On Cohesive Sediment Erodibility And Implications For Benthic-Pelagic Coupling, Elka T. Porter, Barbara J. Johnson, Lawrence P. Sanford

Journal of Marine Research

The interacting effects of little neck hard clam (Mercenaria mercenaria) density and bottom shear stress on cohesive sediment erodibility were investigated. Short-term stepwise erosion experiments in 30 and 40 cm diameter Gust microcosms over a range of 0.0083 to 0.1932 Pa were performed using sequential 20-minute constant shear stress steps while sampling turbidity regularly. In addition, sediment erodibility was monitored in two one-month long ecosystem experiments with tidal resuspension and 0, 10, and 50 hard clams in 1 m³ shear turbulence resuspension mesocosms (STURM) with an initial stepwise erosion experiment (0.313 to 0.444 Pa). In short-term erosion …

Editor's Commentary: Steady Flow In A Frictionless Homogenous Ocean, Kenneth H. Brink

Journal of Marine Research

Before the publication of this article, Stommel (1948) and Munk (1950) published their linear, frictional models of steady wind-driven ocean gyres. The innovative advance they introduced was that their models included western boundary currents (e.g., the Gulf Stream)for the first time. These were really exciting advances. Yet, these models had some dreamlike qualities (to paraphrase Stommel) in that the flow patterns were very smooth, that the intense current always hugged the western boundary, and that the eastward interior flow is broadly distributed across latitudes...

Inference Of Natural Selection In Human Populations And Cancers: Testing, Extending, And Complementing Dn/Ds-Like Approaches, William Meyerson

Yale Medicine Thesis Digital Library

Heritable traits tend to rise or fall in prevalence over time in accordance with their effect on survival and reproduction; this is the law of natural selection, the driving force behind speciation. Natural selection is both a consequence and (in cancer) a cause of disease. The new abundance of sequencing data has spurred the development of computational techniques to infer the strength of selection across a genome. One technique, dN/dS, compares mutation rates at mutation-tolerant synonymous sites with those at nonsynonymous sites to infer selection. This dissertation tests, extends, and complements dN/dS for inferring selection from sequencing data. First, I …

Yale School Of Medicine Facts & Figures 2020-2021, Yale School Of Medicine Office Of Communications

Facts & Figures – annual Yale School of Medicine numbers

Provided by the Office of Communications, the Facts and Figures brochure is produced annually as a way to provide a snapshot of key facts and data related to the School of Medicine as well as the Medical Campus. This includes enrollment data, research activity, financial summaries, and more.

On The Mutual Adjustment Of Pressure And Velocity Distributions In Certain Simple Current Systems, Ii, C.-G. Rossby

Journal of Marine Research

In a previous report (Rossby 1937) the author investigated certain changes in the mass distribution which accompany the slow lateral diffusion of momentum in a straight parallel current in an unlimited ocean of constant depth…

Racialized Masculinities In The Sexual Field: A Latent Profile Analysis Of Gay Community Stressors, Okoduwa Aboiralor

Public Health Theses

While intra-group discrimination is commonly experienced among men in the LGBT community, little is known about the intersection of multiple forms of discrimination. This study used a latent class analysis (LCA) to visualize the intersections of different forms of perceived discrimination and to evaluate to what degree LCA membership is associated with depression, anxiety, and somatization among a sample of racially and ethnically diverse men who have sex with men (MSM). The data was sourced from the Gay Community Stress Scale (GCSS) wherein participants were asked to what degree their perception of the mainstream gay community’s racism, racial objectification, masculinity …

Experiences And Beliefs About Violence And Sexual Health: A Qualitative Analysis Of The Experiences Of Female Migrant Lao Workers At The Border Of Thailand And Laos, Rachel Michele Brase

Public Health Theses

Background: It is estimated that 10% of Thailand’s total labor force is estimated to be made up of migrant workers. While the exact number of migrant workers from nearby countries is unknown, border towns and provinces are acknowledged to utilize a large population of undocumented and documented migrant workers. A majority of undocumented and a nearly half of documented migrants were reported to be female. While previous research has explored the health needs of female migrant workers in specific industries, such as the sex work industry and manufacturing industry, few studies have examined the health needs and beliefs of female …

The Health Action For Psychiatric Problems In Nigeria Including Epilepsy And Substances (Happiness) Project: A Preliminary Mixed-Method Evaluation, Casey Jia-Chyi Chu

Public Health Theses

Background: The Health Action for Psychiatric Problems in Nigeria Including Epilepsy and Substances (HAPPINESS) Project is a mental health capacity building intervention based in Imo State, Nigeria that incorporates the World Health Organization’s Mental Health Gap Action Programme (mhGAP). So far, the HAPPINESS Project has trained 36 primary care workers (doctors, nurses, and community health extension workers) in one initial training (covering 5 local government areas) and one refresher training. The goal of this project is to leverage Imo State’s widespread primary care network, to address gaps in access to mental health care.

Objective: To evaluate the impact of the …

Household Risk Factors For Malaria Among Children Under 10 In Southwest Burkina Faso, Mckenzie Colt

Public Health Theses

Malaria transmission occurs both indoors and outdoors, and housing and peri-domestic characteristics have been associated with higher risks of malaria. Previous research in Burkina Faso has demonstrated that vector density within households varies greatly, though contributing factors are less clear. In the context of a cluster-randomized trial in a rural region of southwest Burkina Faso, the associations between household structural and behavioral factors with vector density will be presented. General household surveys were completed detailing the external housing characteristics of wall and roof materials, number of individual sleeping rooms, number of individuals in the household, and ITN use. All enrolled …

Use Of Shotgun Metagenomic Sequencing To Determine How The Human Gut Microbiome And Antibiotic Resistome Influence The Risk Of Recurrent Clostridioides Difficile Infection, Maria Alexandra Correa

Public Health Theses

Clostridioides difficile is an opportunistic enteric pathogen that can cause a range of symptoms in humans from diarrhea to pseudomembranous colitis. The risk of recurrence of C. difficile infection after initial treatment with antibiotics is high. Although prior studies have sought to understand the link between the human gut microbiome and the risk of recurrence, none have utilized shotgun metagenomic sequencing methods to establish a relationship between microbiota diversity and recurrence risk. In this study, stool samples were obtained from 47 patients at Yale New Haven Hospital who tested positive for an incident C. difficile infection. Shotgun metagenomic sequencing was …

An Impact Evaluation Of The Rollout Of The Pneumococcal Conjugate Vaccine In Uttar Pradesh State, India. 2017-2019, Elizabeth Edgerley

Public Health Theses

This paper is aimed toward examining whether methods currently being rolled out to administer the Pneumococcal Conjugate Vaccine to children in the Indian state of Uttar Pradesh is effectively reducing morbidity and mortality. The fundamental question regarding this current effort is if it proves to be useful at reducing the prevalence of Streptococcus Pneumoniae and whether the surveillance methods examining the efficacy of healthcare interventions are helpful. Both rural and urban India are troubling areas for public health surveillance to reach, though many diseases of poverty and respiratory illnesses such as pneumonia flourish there. With no true quantification of burden, …

Covid-19 Risk Among Temporary Protected Status Beneficiaries, Diana Estefania Estrada Alamo

Public Health Theses

The current federal response of the United States to the COVID-19 pandemic has created conditions and resulted in unintended consequences that may be disproportionately increasing the risk of COVID-19 infection and sequelae for immigrant populations. This investigative thesis explores whether states with a greater percentage of Temporary Protected Status beneficiaries experience more COVID-19 related deaths as compared to the rest of the United States. Using a multiple linear regression model for statistical analysis, covariates under consideration include the number of COVID-19 confirmed cases, tests performed, hospitalizations reported, as well as the population density of each state and the proportion of …

Association Between Maternal Depressive Symptoms And Hypertension Among African American Mothers In The Intergen Study, Xiaosong Gao

Public Health Theses

Purpose: The purpose of this paper is to examine the association between maternal depressive symptoms and hypertension among African American mothers from the InterGEN study.

Data Source: The Intergenerational Blood Pressure (InterGEN) Study was a longitudinal study which enrolled 250 African American mother-child dyads based in Southwest and Central Connecticut.

Methods: We used logistic regression models to examine the association between depressive symptoms and hypertension, and adjusted for educational level, employment in the past 6 months, and Race-Related Events Score (RRES). We used growth curve modeling to examine the association of systolic blood pressure (SBP) and diastolic blood pressure (DBP) …

Creating An Antibody Digestive Curve In Cx. Quinquefasciatus Mosquitoes, Christina Ann Harden

Public Health Theses

Eastern Equine Encephalitis virus (EEEV) is an endemic arbovirus of increasing importance

in the United States. It is perpetuated via an enzootic cycle between Culiseta melanura

mosquitoes and avian reservoirs. In the northeast, transmission has distinct seasonality

and its overwintering mechanism is unknown. Xenosurveillance has been identified as a

possible way to elucidate viral circulation dynamics in states such as Connecticut that are

experiencing a resurgence of human EEE cases, potentially exacerbated by factors

associated with global climate change. This study sought to experimentally create an

antibody digestive curve for both mammalian and avian bloodmeals in Cx. quinquefasciatus

mosquitoes. Using …

Blood Dna Methylation As A Surrogate Epigenetic Biomarker In Study Of Night Shift Work And Breast Cancer, Yi Jin

Public Health Theses

Objectives: the objective was to explore the consistency of DNA methylation pattern between peripheral blood and breast tumor tissue, and discussed the potential of using blood as a surrogate epigenetic biomarker to study the relationship between breast cancer and shiftwork.

Methods: systematic review on studies analyzing the concordance or correlation of DNA methylation level between breast tumor tissue and peripheral blood was conducted. The results of eligible studies were summarized to find the specific genes that had consistent methylation pattern in both tumor tissues and blood. Then the blood samples from the well-established Danish cohort were used to perform epigenome-wide …

Development Of A Comprehensive Sexual Education Curriculum For A Private, Independent Day School For Students Pre-K Through 8th Grade, Haja I. Kamara

Public Health Theses

This paper describes the development of a comprehensive sex education (CSE) curriculum for The Country School (TCS), a coeducational, independent school in Madison, CT that serves approximately 200 students in Pre-Kindergarten through 8th grade. CSE describes a wide array of sex education programs and curricula that are scientifically accurate, culturally and age-appropriate, gender-sensitive and life skills-based. The goal for this project is multi-pronged: adapt existing health education programming, build out a new health and wellness program with a distinct scope and sequence for each grade level that includes resources and supports for ongoing parent education and professional development. To inform …

Impact Of A 6-Month Exercise Intervention On Cognitive Function Among Ovarian Cancer Survivors: The Women’S Activity And Lifestyle Study In Connecticut (Walc), Jonica Yu Kao

Public Health Theses

Purpose: Cancer survivors often exhibit symptoms of impaired cognitive abilities after chemotherapy treatment. Physical activity has been shown to be promising in improving cognitive function among survivors for various types of cancer. However, very few studies have addressed this concern among the ovarian cancer patient population specifically.

Methods: The study randomized 111 physically-inactive ovarian cancer survivors into a 6-month exercise intervention (n=59) or an attention-control group (n=52). The FACT-Cog scale was self-reported to understand survivor perceptions of cognitive abilities at baseline and at 6 months. Generalized linear models (GLMs) were executed to examine the effect of the intervention versus attention-control …

The Hiv Care Continuum And Barriers To Viral Suppression Among Men Who Have Sex With Men In Greater Kuala Lumpur, Malaysia., Lauren Haerin Kim

Public Health Theses

Background: Men who have sex with men (MSM) now account for nearly half of all new HIV cases in Malaysia. There has been little research, however, characterizing the HIV care continuum among MSM living with HIV in Malaysia. This study describes the HIV care continuum and examines factors associated with HIV viral non-suppression among newly diagnosed MSM living with HIV in Kuala Lumpur, Malaysia.

Methods: We enrolled 163 MSM living with HIV who were in care at a major university hospital in Kuala Lumpur, Malaysia. Participants completed a self-administered questionnaire. Electronic medical chart review also provided data on engagement in …

Evaluating The Association Between Severe Acne And Pancreatic Cancer Risk, Rachel Vania Lee

Public Health Theses

Objective: Inflammation is a suggested mediator in pancreatic carcinogenesis. Severe acne may be a proxy of inflammation; however, the association between severe acne with pancreatic cancer is unstudied. Here, we explored the association between self-reported severe acne and pancreatic cancer risk for the purpose of hypothesis generation.

Methods: In a hospital-based case-control study, we used information from personal interviews with 939 confirmed cases of pancreatic adenocarcinoma and 440 controls to assess history of teenage and adult acne. We evaluated the association between severe acne and pancreatic cancer risk by estimating adjusted odds ratios (ORs) and 95% confidence intervals (CIs) using …

Acknowledgment Of Sexual Violence And Mental Health Among College Students, Francesca Maviglia

Public Health Theses

A significant number of individuals who experience a form of sexual violence that could be classifiable as rape or sexual assault do not label their experience as such. Studies found that rape acknowledgement status can impact a survivor’s postassault experiences and recovery process. This study examined how a sample of 236 college students who experienced some form of sexual violence labeled their experience. The association between different degrees of acknowledgement and posttraumatic stress and depression symptoms was tested. 162 (68.6%) of respondents did not label their experience as unwanted; the remaining 74 (31.4%) varied in their labeling of the experience …

Assessing The Functional Impact Of Pfrh5 Genetic Diversity On Erythrocyte Invasion Pathway Utilization In Plasmodium Falciparum, Adam Joseph Moore

Public Health Theses

Malaria is still responsible for over 405,000 deaths and 228 million cases of disease globally each year, with the large majority of these cases being caused by the Plasmodium falciparum parasite subspecies1. The RTS,S P. falciparum malaria vaccine, the only malaria vaccine ever licensed, is currently being rolled out in three African countries as part of a pilot implementation program and targets a major circumsporozoite protein (PfCSP). After three doses and a seven-year follow up, the vaccine showed a 7% efficacy on average with a -56.8% efficacy for patients in regions with above average exposure to P. falciparum2. While the …

Live Birth Bias In Epidemiological Study Of Timing Specific Exposure Effect During Pregnancy And Child Health: A Simulation Study, Ngoc Tram Nguyen

Public Health Theses

In reproductive and perinatal epidemiological studies, measurement of child health outcomes that can only be ascertained in live born children may be incomplete since only 60 – 70% of fertilized eggs result in live births and early pregnancy loss is often undetected. Studies assessing outcomes among live born children are subject to live birth bias, a phenomenon previously proposed as a form of collider-bias in which conditioning on live-birth status induces a non-causal association between exposure and outcome. In this study, we expanded a previously proposed common structure of this bias to evaluate its impact on the estimation of time-specific …

Drug Use And Severe Outcomes Among Patients Hospitalized With Influenza Over Three Seasons, Christina Elizabeth Parisi

Public Health Theses

Influenza is a significant public health problem in the United States and around the world, causing considerable morbidity and mortality annually. Drug use is also a significant issue that is associated with numerous health complications and conditions. However, the relationship between severe influenza outcomes and drug use is not well understood. The objectives of this investigation are to compare the prevalence of demographic and behavioral factors associated with severe influenza outcomes between persons who use drugs (PWUDs) and non-PWUDs hospitalized with influenza and, by controlling for those factors we find are significant, determine if there is an association between severe …

Relationship Between Food Craving And Food Selection, Elizabeth Marie Raiff

Public Health Theses

Objective: The primary aim of this study was to determine the influence of craving on food selection.

Research Methods and Procedures: A total of 95 viable participants completed the food craving inventory

(FCI), a restaurant meal selection questionnaire, and various demographic questions. Linear regression

modeling was used to analyze the relationship between FCI craving score and various forms of caloric intake.

Logistic regression models were utilized to analyze the relationship between “high-craving” status and food

selection.

Results: No significant findings resulted from modelling the relationship between craving category FCI scores

and craved caloric intake using Pearson’s coefficient. Likewise, no significant …

The Relationship Between Race And Gender And Healthcare Outcomes For Patients In The Intensive Care Unit, Ria Rungta

Public Health Theses

Objective: Although racial and gender disparities in healthcare treatment have been widely studied, relatively few studies have focused on the critically ill population and have had conflicting results. In this study, we sought to assess the associations between a patient’s race and gender and their ICU mortality, length of stay, and any observed delays in the discharge process.

Methods: We utilize a large single-center database called MIMIC-III to analyze the association be- tween a patient’s race and gender and the outcomes of hospital mortality, ICU length of stay, and delays in discharge process. All analysis is conducted using R. Multivariable …

Confidentiality In The Clinic: A Qualitative Analysis Of Adolescent Girls’ Experiences Of Confidentiality In Sexual And Reproductive Health Care, Karen Teekadai Singh

Public Health Theses

Purpose: Adolescents in Connecticut can legally consent to sexual and reproductive health (SRH) care themselves and their parents do not have the right to view their confidential SRH treatment records. A qualitative study capturing information about adolescent girls’ experiences when receiving SRH care was conducted to explore how confidentiality and privacy play out in the clinic from the perspective of adolescents, the facilitators and barriers to adolescents’ confidentiality and privacy in SRH care, and the influence of family members or other guardians on adolescent patients’ confidentiality and privacy.

Methods: A secondary analysis of 31 interviews with adolescent girls was conducted. …

Neighborhood And Environmental Factors And The Relationship To The Willingness To Use And Actual Uptake Of Pre-Exposure Prophylaxis (Prep) Uptake, A Rapid Scoping Review, Steven Susana-Castillo

Public Health Theses

PrEP (Pre-Exposure Prophylaxis), which appeared on the market after FDA approval in 2012, is more than 90% effective against HIV transmission via sexual contact and more than 60% effective against HIV transmission via intravenous drug use. Current interventions focus on individual behavior or clinical guidelines, however, there has been little focus on the environmental factors affecting PrEP willingness and uptake. To investigate the relationship between neighborhood, environmental factors and PrEP willingness and uptake in the United States, a rapid scoping review was conducted with three electronic databases of articles (January 2012 – March 2020). Of the 2,016 citations screened, 11 …