Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Terson-Like Syndrome Associated With Familial Retinal Arteriolar Tortuosity (Frat) And A Spontaneous Spinal Hemorrhage, Peter Maduka, David R. Lally

Rowan-Virtua Research Day

Background: Familial retinal arteriolar tortuosity (fRAT) is an autosomal dominant disorder that is characterized by tortuosity of the second and third order retinal arterioles in the macular and peripapillary areas. The genetics of fRAT are incompletely understood but have been associated with a missense mutation in the COL4A1 gene in some cases. fRAT is not typically associated with visual loss and prognosis is good. However, the tortuous arterioles can bleed, causing intraretinal, preretinal, and/or subretinal hemorrhages.

Objective: To describe a case of Terson-like syndrome associated with familial retinal arteriolar tortuosity (fRAT) in the setting of spontaneous spinal hemorrhage.

Results: A …

Ethnic Differences In Maternal Cytokines And Adipokines And Their Association With Spontaneous Preterm Delivery, Yelizavet D. Lomakova, Xinhua Chen

Rowan-Virtua Research Day

Spontaneous preterm delivery (SPTD, birth at <37 weeks’ gestation) is a leading cause of infant mortality in the United States [1]. Infants born prematurely are more likely to suffer from both short and long-term complications including neurodevelopmental delay, visual and hearing impairment, and chronic diseases such as heart disease, hypertension and diabetes in later life [2-4]. African American women have a 2-fold increased risk of preterm delivery compared to Caucasian women [5].The reasons for this disparity are poorly understood. This limits the ability to predict and prevent preterm delivery in the most high-risk populations.

The Theory Of Maternal Administration Of Meclizine: An Achondroplasic Review And The Proposed Treatment Of Foramen Magnum Stenosis Within A Murine Model, Ava Perez Erickson

Senior Honors Theses

Arising from mostly de novo mutations, achondroplasia (ACH) is one of the most common, non-lethal forms of chondrodysplasia. The short stature indicative of ACH stems from a gain of function mutation within the complex FGFR3 signaling pathway—mutations mitigating the too-rapid ossification of cartilage to bone. Meclizine, an FDA-approved drug long prescribed for motion sickness, halts such a conversion and allows the reconstitution of chondrodysplasia cell lines in attempts at following a normal growth pattern. Evinced by various cell line rescues as well as increased long bone growth, it can be hypothesized that maternally administered meclizine can rescue the ACH phenotype …

Breast Cancer Risk For Female Relatives Of Male Breast Cancer Patients With Negative Brca1/2 Testing, Emily Martin

Dissertations & Theses (Open Access)

Risk models exist to estimate a female’s lifetime risk of breast cancer in the absence of a hereditary predisposition to cancer, namely Hereditary Breast and Ovarian Cancer syndrome. These risk models consider various factors such as reproductive history and family history, but few models take a family history of male breast cancer into account. This study aims to evaluate if prevalence of breast cancer among female relatives is higher when there is a family history of male breast cancer in the context of uninformative BRCA1 and BRCA2 testing. This information may aid in the process of risk assessments for patients …

Hippocampal Connectivity In Parkinson's Disease, Landis Llewelyn

Honors Theses

Background: This thesis was conducted in order to investigate possible connections between functional connectivity of the hippocampus in individuals who have Parkinson’s disease.

Methods: The MRI images, the clinical data, and the demographic data of 93 individuals with PD and 18 individuals without PD were obtained from the Parkinson's Progression Markers Initiative. Resting-state fMRI data from a group of PD patients was compared to a control group of non-PD patients by using previously published methods with FMRIB Software Library (FSL) as well as Analysis of Functional Neuroimages (AFNI).

Results: Compared to the control (non-PD) group, results bilaterally showed lesser connectivity …

Referral Pattern And Outcomes Of Neonates From Secondary Care Setting Of Aga Khan University Hospital To Tertiary Care Centers In Pakistan, Suneeta Khemani, Nazia Shamim, Adnan Mirza, Nadia Mohammad, Safdar Kagazwala, Shakeel Ahmed

Department of Paediatrics and Child Health

Objective: To determine the reasons of neonatal referrals from secondary-care to tertiary-care setting, and to assess neonatal outcomes for the referred cases.
Methods: The retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data from July 2015 to June 2019 Related to all neonates born after 32 weeks of gestation at the satellite secondary-care centres in Kharadar, Garden and Karimabad who had been referred to the main tertiary care hospital. The reason for referral, need of mechanical ventilation, referral place and neonatal outcome were noted. Data was analysed using SPSS 22.
Results: Of the 348 cases, …

Use Of Antisense Oligonucleotides To Target Notch2 In Mouse Chondrocytes, Gabrielle Viviana Lanza

Honors Scholar Theses

NOTCH2 is a transmembrane receptor that is part of the Notch receptor family, known for controlling cell differentiation and function. Notch receptors play a crucial role in skeletal development and bone homeostasis. Hajdu Cheney Syndrome (HCS) is a rare monogenic disorder affecting the skeleton caused by a gain-of-function mutation in NOTCH2. Antisense oligonucleotides (ASO) are sequence-specific single-stranded nucleic acids that bind to target mRNA and initiate mRNA degradation. While previous work has explored the role of Notch2 ASOs in osteoblasts and osteoclasts, this paper explores the role of Notch2 and Notch2 ASOs in cells of cartilage tissue. The effect of …

Prevalence Of Common Disease Conditions In A Large Cohort Of Individuals With Down Syndrome In The United States, Brian Chicoine, Anne Rivelli, Veronica Fitzpatrick, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky

Journal of Patient-Centered Research and Reviews

Purpose: Given the current life expectancy and number of individuals living with Down syndrome (DS), it is important to learn common occurrences of disease conditions across the developmental lifespan. This study analyzed data from a large cohort of individuals with DS in an effort to better understand these disease conditions, inform future screening practices, tailor medical care guidelines, and improve utilization of health care resources.

Methods: This retrospective, descriptive study incorporated up to 28 years of data, compiled from 6078 individuals with DS and 30,326 controls matched on age and sex. Data were abstracted from electronic medical records within a …

Trna Regulation In Humans: The Cellular Effect Of A Pathological Hars Y454s Mutation, Rosan Kenana

Electronic Thesis and Dissertation Repository

tRNAs are the adapter molecules involved in translating the genetic code into functional protein in a living cell. tRNAs are charged with their cognate amino acids - by aminoacyl-tRNA synthetases (aaRS or ARS) - which are then transferred to a growing peptide in a process called mRNA translation. The efficiency of translation is dependent on the ratio of ARS enzymes to their cognate tRNAs and the availability of correctly amino acylated tRNAs. Disruptions of this process, caused by mutations in ARS genes, in particular, have been linked to complex inherited diseases. USH3B syndrome, a recessively inherited disorder among consanguineous families …

Effectiveness Of Transcutaneous Bilirubin Measurement In High-Risk Neonates And To Evaluate Validity Of Transcutaneous Bilirubin With Total Serum Bilirubin Levels In Both Low And High-Risk Neonates At A Tertiary Care Center In A Developing Country, Durre Shahwar Khan, Adnan Mirza, Areesh Bhatti, Ali Shabbir Hussain, Batha Tariq, Arjumand Rizvi

Department of Paediatrics and Child Health

Objectives: To evaluate the usefulness of transcutaneous bilirubin (TcBR) nomogram in high-risk neonates and to identify the validity of TcBR and total serum bilirubin (TsBR) in both low and high-risk neonates to guide management in under-resourced settings.
Methodology: A cross-sectional study was conducted at the well-baby nursery of a tertiary care center in Karachi, Pakistan. All neonates admitted in the well-baby nursery with jaundice were stratified into high and low-risk groups. Eighty-seven neonates were included in the low-risk group and 121 neonates in the high-risk group. The usefulness of the TcBR nomogram in high-risk neonates and the validity of TcBR …

Dnp Final Report: Breaking The Cycle: Care Coordination Interventions And Sickle Cell Readmissions, Naphtali Edge

DNP Final Reports

Background

Approximately 100,000 people in the United States are affected by Sickle Cell Disease (SCD). Sickle Cell Disease represents the second highest readmitting diagnosis at Houston Methodist Hospital. The purpose of this study is to determine the impact of implementing care coordination interventions to reduce hospital readmissions of patients with SCD.

PICOT

In adult patients with SCD in the acute care hospital setting, how does care coordination intervention compared to no care coordination intervention affect the readmission rate for patients with SCD over a 3 – 6-month period?

Body of Evidence

Eleven studies were critical appraised and included in the …

Cornelia De Lange Syndrome Research From 1953 To 2020: A Bibliometric Analysis, Dr. Mirza Muhammad Naseer, Dr. Abu Waris

Library Philosophy and Practice (e-journal)

The present study was conducted to explore various aspects of Cornelia de Lange Syndrome (CdLS) research publications including annual scientific productivity, top contributing authors and their impact, top contributing countries and organizations, most relevant sources of publication, highly cited documents, and most frequently used words. Bibliometric methods were used to investigate these aspects of CdLS research publications. Results of the study disclosed that the annual scientific productivity of CdLS literature is increasing gradually with the passage of time. A. Selicorni contributed the highest number of publications (45) to CdLS literature while I. D. Krantz had the highest impact in the …

The Fighting Journey Of A Premature Baby: A Systemic Review Of Developmental And Neurological Complications Of The Premature Baby, Dana Patel

Honors Undergraduate Theses

Prematurity is a worldwide problem. Every year, 15 million babies are born prematurely, and 1 million of those babies die because of related complications. The surviving premature babies are struggling to hold on to their lives, and even when they do live, most of them end up having various complications to survive and get stronger. There are physical complications faced on their journey such as having underdeveloped lungs, pneumonia, obesity, sepsis, retinopathy of prematurity, respiratory distress syndrome, bronchopulmonary dysplasia, asthma, wheezing, bronchiolitis, cerebral palsy, and motor impairment. They can also develop mental and behavioral health complications such as depression, seizures …

Genomic Education – Bench To Bedside: A Novel Approach To Teaching Genetic Diagnosis, J. Keith Williams, Michael M. Segal, Lynn K. Feldman

Internet Journal of Allied Health Sciences and Practice

Problem: Teaching genetic diagnosis is required in all medical schools and physician assistant programs. However, with thousands of relevant findings and thousands more rare diseases, lectures and narrative resources are inadequate for the task. Whatever information that is taught is easily forgotten and does not carry over into the clinic. Many rare disease patients suffer through “diagnostic odysseys” (3 to 30 years to correct diagnosis). Approach: We used a commercially available diagnostic decision support system (DDSS) that encompasses all Mendelian disorders with known genes, together with other conditions in their differential diagnosis, and a case-based educational approach to teach diagnostic …

Maternal Proximity To Mountaintop Removal Mining And Birth Defects In Appalachian Kentucky, 1997-2003, Daniel B. Cooper

Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)

Background: Extraction of coal through mountaintop removal mining (MTR) alters many dimensions of the landscape, and explosive blasts, exposed rock, and coal washing have the potential to pollute air and water with substances known to increase risk of developmental and birth anomalies. Previous research suggests that infants born to mothers living in MTR coal mining counties have higher prevalence of most types of birth defects.

Objectives: This study seeks to examine further the relationship between MTR activity and birth defects by employing individual level exposure estimation through precise satellite data of MTR activity in the Appalachian region and maternal residence …

Integument: Guidelines For The Care Of People With Spina Bifida, Patricia Beierwaltes, Sharon Munoz, Jennifer Wilhelmy

School of Nursing Publications

PURPOSE:

Skin-related issues have a significant impact on health, activities of daily living, and quality of life among people with spina bifida. Data presented by select clinics that participate in the National Spina Bifida Patient Registry reported that 26% of individuals had a history of pressure injuries with 19% having had one in the past year. The spina bifida community lack direct guidelines on prevention of these and other skin related issues. The Integument (skin) Guidelines focus on prevention, not treatment, of existing problems.

METHODS:

Using a consensus building methodology, the guidelines were written by experts in spina bifida and …

Bowel Function And Care - Guidelines For The Care Of People With Spina Bifida, Patricia Beierwaltes, Paige Church, Tiffany Gordon, Lusine Ambartsumyan

School of Nursing Publications

PURPOSE:

Bowel dysfunction, such as constipation and fecal incontinence, has a significant impact on health, activities of daily living, and quality of life among people with spina bifida. Secondary complications may result from bowel dysfunction and include urologic dysfunction, loss of skin integrity, shunt (hydrocephalus) function, as well as loss of social opportunities and employability.

METHODS:

Using a consensus building methodology, the guidelines for management of bowel dysfunction in spina bifida were written by experts in the field of spina bifida and bowel function and care.

RESULTS:

The evidence-based guidelines are presented in table format and provide age-specific recommendations to …

Care Coordination Guidelines For The Care Of People With Spina Bifida, Alexander Van Speybroeck, Patricia Beierwaltes, Betsy Hopson, Suzanne Mckee, Lisa Raman, Ravindra Rao, Rebecca Sherlock

School of Nursing Publications

Care coordination is the deliberate organization of patient care activities between two or more participants (including the patient) involved in a person’s care to facilitate the appropriate delivery of health care services. Organizing care involves the marshalling of personnel and other resources needed to carry out all required patient care activities. It is often managed by the exchange of information among participants responsible for different aspects of care. With an estimated 85% of individuals with Spina Bifida (SB) surviving to adulthood, SB specific care coordination guidelines are warranted. Care coordination (also described as case management services) is a process that …

The Effects Of Maternal Delta-9-Tetrahydrocannabinol And Cannabidiol Exposure On Fetal Heart Development In Mice, Gregory Robinson

Electronic Thesis and Dissertation Repository

Up to 22.6% of pregnant women consume cannabis during pregnancy despite the uncertainty of teratogenicity of the main ingredients in cannabis, delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD). This study tested the hypothesis that gestational THC and CBD exposure leads to heart abnormalities. Daily, oral THC exposure induced heart abnormalities in 68% of offspring with three main phenotypes including thickened semilunar valves, ventricular myocardial hypertrophy and hypoplastic coronary arteries in fetuses, and postnatal cardiac dysfunction. Altered gene expression of key cardiogenic regulators, increased proliferation, and reduced epicardial epithelial-to-mesenchymal-transition were demonstrated implicating potential mechanisms responsible for these abnormalities. Also, maternal CBD exposure resulted …

Beyond The Eye: The Neural Signature Of Cerebral Visual Processing In Children With Cerebral Palsy, Jacy R. Hannan

Theses & Dissertations

Cerebral palsy (CP) is a permanent, non-progressive neuromuscular disorder diagnosed early in childhood. Frequently the lesion that causes the motor impairments in individuals with CP concurrently disrupts the visual networks, placing them at a high risk of cerebral visual dysfunctions. Cerebral visual impairment (CVI) often remains unrecognized or misdiagnosed in people with CP. Despite the crucial role of visual function in the development of movement and cognition, the neurophysiological basis of the cerebral visual dysfunctions is almost entirely unknown. This investigation aimed to examine the neurophysiological mechanisms underlying cerebral visual dysfunction in children with CP. Specifically, this research used magnetoencephalographic …