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Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Full-Text Articles in Medicine and Health Sciences

A Literature Review Of Current Treatments For The Hypermobility Subtype Of Ehlers-Danlos Syndrome, John Gericke, Mary Zsolway, Chelsea Reyes, Pooja Patel, Saad Ahmed, Julia Hwang, Venkateswar Venkataraman May 2024

A Literature Review Of Current Treatments For The Hypermobility Subtype Of Ehlers-Danlos Syndrome, John Gericke, Mary Zsolway, Chelsea Reyes, Pooja Patel, Saad Ahmed, Julia Hwang, Venkateswar Venkataraman

Rowan-Virtua Research Day

Purpose: The purpose of this study is to compare pharmacologic intervention, neurocognitive therapy, physical therapy, and orthotics in treating the hypermobility subtype of Ehlers-Danlos Syndrome (hEDS) and determine which has the most positive effect on symptoms.

Introduction: Ehlers-Danlos Syndrome is an inheritable connective tissue disorder which results from a genetic mutation that alters the body’s ability to produce collagen. The most common subtype of Ehlers-Danlos Syndrome is hEDS, which leads to hypermobility and hyperextensibility and can cause frequent joint dislocations.

Methods: A review of literature was performed to compare each treatment based on reported results. The types of studies reviewed …


Brief Review: Regional Anesthesia For Vaso-Occlusive Pain Crises, Oluwatomi Alade May 2024

Brief Review: Regional Anesthesia For Vaso-Occlusive Pain Crises, Oluwatomi Alade

Rowan-Virtua Research Day

Vaso-occlusive pain crisis occurs with obstruction of blood vessels from sickled red blood cells. This results in ischemic injury causing in pain. Acute vasoocclusive pain crisis is one of the most common reasons for patients with sickle cell disease to present to the hospital for medical attention. Acute treatment involves IV opioid therapy, non-opioid therapy, and IV hydration. There is a known lack of trust between a patient in acute pain and a provider in the emergency department (ED) and hospital secondary to stereotypes regarding pain seeking behavior. Here we discuss a case of vasoocclusive pain crisis refractory to opioid …


Amondys 45 (Casimersen), A Novel Antisense Phosphorodiamidate Morpholino Oligomer: Clinical Considerations For Treatment In Duchenne Muscular Dystrophy, Megan E. Vasterling, Rebecca J. Maitski, Brice A. Davis, Julie E. Barnes, Rucha A. Kelkar, Rachel J. Klapper, Hirni Patel, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi Dec 2023

Amondys 45 (Casimersen), A Novel Antisense Phosphorodiamidate Morpholino Oligomer: Clinical Considerations For Treatment In Duchenne Muscular Dystrophy, Megan E. Vasterling, Rebecca J. Maitski, Brice A. Davis, Julie E. Barnes, Rucha A. Kelkar, Rachel J. Klapper, Hirni Patel, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi

School of Medicine Faculty Publications

AMONDYS 45 (casimersen) is an antisense oligonucleotide therapy used to treat Duchenne muscular dystrophy (DMD), a rare genetic disorder characterized by a mutation in the DMD gene. Symptoms include progressive muscle weakness, respiratory and cardiac complications, and premature death. Casimersen targets a specific mutation in the DMD gene that results in the absence of dystrophin protein, a key structural component of muscle fibers. While there is currently no cure for DMD, exon-skipping therapy works by restoring the reading frame of the mutated gene, allowing the production of a partially functional dystrophin protein. Clinical trials of casimersen have shown promising results …


Human Parechovirus Central Nervous System Infection In A Young Infant Cohort, Aspasia Katragkou, Avni Sheth, Christina Gagliardo, Jessica Aquino, Niva Shah, Eberechi Nwaobasi-Iwuh, Christina Melchionne, Paige Black, Stephanie Chiu, Cecilia Di Pentima Dec 2023

Human Parechovirus Central Nervous System Infection In A Young Infant Cohort, Aspasia Katragkou, Avni Sheth, Christina Gagliardo, Jessica Aquino, Niva Shah, Eberechi Nwaobasi-Iwuh, Christina Melchionne, Paige Black, Stephanie Chiu, Cecilia Di Pentima

Department of Pediatrics Faculty Papers

In 2022, a surge in cases of pediatric human parechovirus (HPeV) central nervous system infections in young infants was seen at our institution. Despite the dramatic increase in the number of cases seen that year, the clinical features of the illness were similar to prior years. The recent pediatric HPeV surge highlights the need to evaluate treatment options and standardize follow-up to better understand the long-term prognosis of infants with HPeV infection.


I Can't Breathe - Cystic Fibrosis, Mayret Gonzalez Jan 2019

I Can't Breathe - Cystic Fibrosis, Mayret Gonzalez

All Publications

No abstract provided.


Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer Jul 2017

Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer

DePaul Discoveries

Reduction of stressors and anxiety levels in adolescents with chronic illnesses is a critical concept in pediatric health care in America today. The many stressors associated with chronic illness include displaying physical and mental differences, social stigma, financial difficulty, and family stress. These stressors may affect the adolescent’s ability to learn and cope in everyday life. The current research was a critical review of the literature examining studies done with adolescents coping with chronic diseases and illnesses. The aim was to analyze the most efficacious non-pharmacological methods for reducing stressors in adolescents with chronic illness. A critical review of the …


Late Onset Of Pulmonary Hypertension And Sepsis In Omphalocele Infants, Joanne E. Baerg, Arul Thirumoorthi, Whitney Carlton, Shelly Haug, Andrew O. Hopper, Donna Goff, Sandhya Ramlogan, Shawn D. St Peter Dec 2016

Late Onset Of Pulmonary Hypertension And Sepsis In Omphalocele Infants, Joanne E. Baerg, Arul Thirumoorthi, Whitney Carlton, Shelly Haug, Andrew O. Hopper, Donna Goff, Sandhya Ramlogan, Shawn D. St Peter

Manuscripts, Articles, Book Chapters and Other Papers

A subset of omphalocele infants has respiratory decompensation after the first week of life and PHN is diagnosed. Infection may initiate decompensation. In some, PHN is distinct from pulmonary hypoplasia as they oxygenate on room air for some time after birth. With aggressive treatment and follow-up, PHN can resolve. The late diagnosis of PHN in infants with omphalocele is previously unappreciated and deserves further study.


Evaluating The Effectiveness Of Cranial Molding For Treatment Of Positional Plagiocephaly Using Finite Element Analysis, Maziyar Keshtgar May 2015

Evaluating The Effectiveness Of Cranial Molding For Treatment Of Positional Plagiocephaly Using Finite Element Analysis, Maziyar Keshtgar

Master's Theses

Since the advent of recommendations for placing infants in the supine position during sleep to reduce the incidence of sudden infant death syndrome, clinicians have noted an increase in the frequency of cranial asymmetry due to deformation of suture sections of the infants’ skulls as a result of constant concentrated stress in one area at the back of their head. This specific form of cranial deformation is known as positional plagiocephaly and its rate of occurrence has increased from 0.3% in 8.2% within the past 30 years.

Current treatments and methodologies for preventing and correcting positional plagiocephaly such as stretching …


Immediate Effects Of High Intensity Training In Children With Cerebral Palsy Gmfcs Levels I-Iii: A Pilot Study, Andrea Blahovec, Andrea Kuiken, Jillian Mears, Heather Riggins May 2012

Immediate Effects Of High Intensity Training In Children With Cerebral Palsy Gmfcs Levels I-Iii: A Pilot Study, Andrea Blahovec, Andrea Kuiken, Jillian Mears, Heather Riggins

UNLV Theses, Dissertations, Professional Papers, and Capstones

Background: Cerebral Palsy is one of the most common causes of motor disability in the U.S., but there is still a lack of consensus for best intervention strategies to improve function and gait efficiency.

Objective: Determine if ambulatory children with CP, exposed to a brief, high intensity training session, will: 1) experience changes in temporal-spatial gait characteristics 2) demonstrate increased gait speed and 3) demonstrate improved gait kinematics.

Design: Five participants walked at preferred and fast speeds over an instrumented walkway followed by a 15-minute intervention. After a short rest, post-intervention walking was completed.

Results: Ten dependent variables were extracted …


Cystic Fibrosis: Biological And Ethical Considerations, Sarah Elizabeth Milam Jan 1999

Cystic Fibrosis: Biological And Ethical Considerations, Sarah Elizabeth Milam

Honors Theses

Cystic fibrosis (CF) is a progressive, multisystem disease whose etiology is a genetic mutation in the CF gene product, cystic fibrosis transmembrane conductance regulator (CFTR). The disorder affects all exocrine glands, with common symptoms involving the lungs and pancreas. Although the CF gene and its protein product have been identified, two aspects of the disease make CF particularly difficult to diagnose and manage: (a) variability in both degree and pattern of the mutation in different individuals and (b) lack of information regarding the precise molecular and cellular mechanisms responsible. Let us begin by examining the pathogenesis and pathophysiology of the …