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Articles 1 - 5 of 5
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A Novel, Minimally Invasive, Paper-Based Biomarker Assay For Molecular Diagnosis Of Preeclampsia, Tomi Taiwo
A Novel, Minimally Invasive, Paper-Based Biomarker Assay For Molecular Diagnosis Of Preeclampsia, Tomi Taiwo
Harrisburg University Research Symposium: Highlighting Research, Innovation, & Creativity
Preeclampsia is a severe pregnancy condition marked by high blood pressure and proteinuria that can strike at any point throughout pregnancy or immediately after birth. Although the exact cause of this disease is unknown, there are several symptoms associated. The goal of this study is focused on the evaluation of biomarker-based assays for molecular diagnosis of the condition in a sensitive and timely manner. This project involved the use of an immunoassay, fabricated serum samples, and a paper-based assay to assess the strength of the presence of the placental growth factor (PlGF). This was done to facilitate a proof-of-concept mechanism …
Adrenoleukodystrophy (Ald), Oluwatomilola Taiwo, David Youssef, James Landis, Karma Pace
Adrenoleukodystrophy (Ald), Oluwatomilola Taiwo, David Youssef, James Landis, Karma Pace
Harrisburg University Research Symposium: Highlighting Research, Innovation, & Creativity
First reported case in 1910, ALD results in serious cognitive and developmental issues. Adult form reported in 1976. Gene of cause identified in 1993 by Mosser et al. X-linked, mutation on ABCD1 gene codes for VLCFA transporter. More likely to occur in males. To be diagnosed with ALD, persons must show signs and symptoms of motor neuron degeneration in both the upper and lower motor neurons that cannot be explained by other factors. There is no single test that can definitively diagnose ALD; instead, the diagnosis is dependent on the symptoms and signs that the physician observes in the patient. …
Pharmacotherapeutic Considerations For Individuals With Down Syndrome, Erik Hefti
Pharmacotherapeutic Considerations For Individuals With Down Syndrome, Erik Hefti
Harrisburg University Faculty Works
Down syndrome (DS; trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including congenital heart defects, endocrine abnormalities, skin and dental problems, seizure disorders, leukemia, dementia, and obesity. These associated conditions may necessitate pharmacotherapeutic management with various drugs. The complex pathobiology of DS may alter drug disposition and drug response in some individuals. For example, reports have documented increased rates of adverse drug reactions in patients with DS treated for leukemia and dementia. Intellectual disability resulting from DS may impact adherence to medication regimens. In this review, we highlight …
Analysis Of Heteroplasmic Variants In The Cardiac Mitochondrial Genome Of Individuals With Down Syndrome, Erik Hefti, Jonathan Bard, Javier G. Blanco
Analysis Of Heteroplasmic Variants In The Cardiac Mitochondrial Genome Of Individuals With Down Syndrome, Erik Hefti, Jonathan Bard, Javier G. Blanco
Harrisburg University Faculty Works
Individuals with Down syndrome (DS, trisomy 21) exhibit a pro-oxidative cellular environment as well as mitochondrial dysfunction. Increased oxidative stress may damage the mitochondrial DNA (mtDNA). The coexistence of mtDNA variants in a cell or tissue (i.e., heteroplasmy) may contribute to mitochondrial dysfunction. Given the evidence on mitochondrial dysfunction and the relatively high incidence of multiorganic disorders associated with DS, we hypothesized that cardiac tissue from subjects with DS may exhibit higher frequencies of mtDNA variants in comparison to cardiac tissue from donors without DS. This study documents the analysis of mtDNA variants in heart tissue samples from donors with …
Anthracycline-Related Cardiotoxicity In Patients With Acute Myeloid Leukemia And Down Syndrome: A Literature Review, Erik Hefti, Javier G. Blanco
Anthracycline-Related Cardiotoxicity In Patients With Acute Myeloid Leukemia And Down Syndrome: A Literature Review, Erik Hefti, Javier G. Blanco
Harrisburg University Faculty Works
Pediatric patients with Down syndrome (DS) are at an increased risk of developing certain cancers. Specifically, patients with DS have a reported 10–20-fold increased risk of developing acute myeloid leukemia (AML). Anthracycline-based treatment regimens achieve good results in patients with DS and AML. It has been proposed that DS status constitutes a risk factor for the cardiotoxicity associated with the use of anthracyclines in the pediatric setting. However, published evidence pointing toward an increased risk of cardiotoxicity in patients with DS is relatively scarce and conflictive. This concise review compiles literature relating to the incidence of anthracycline-related cardiotoxicity in pediatric …