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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

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309 full-text articles. Page 5 of 13.

The Bch-Sbpr: A Multi-Disciplinary Registry Collecting Longitudinal Data On Patients With Spina Bifida, Mohammad Alkawaldeh, Rebecca Sherlock, Estrada Carlos, Erika Alkhawaldeh 2017 University of Massachusetts Amherst

The Bch-Sbpr: A Multi-Disciplinary Registry Collecting Longitudinal Data On Patients With Spina Bifida, Mohammad Alkawaldeh, Rebecca Sherlock, Estrada Carlos, Erika Alkhawaldeh

UMass Center for Clinical and Translational Science Research Retreat

Introduction. In the U.S. alone, approximately 1500 infants are born with SB each year. An estimated 166,000 individuals with SB live in the United States.

Background. The BCH-SBPR was established in August 2015 to help increase knowledge about new procedures, surgeries and treatment options, growing up with Spina Bifida, and to guide healthcare practices by prospectively studying a cohort of children born with this condition.

Objective. The objective of this project is to collect comprehensive longitudinal clinical data (demographics, treatments, and outcomes) from a multi- disciplinary clinic on patients with SB.

Design: Prospective longitudinal design. Data collection will ...


Evolution Of The Alpha-1 Antitrypsin Muscle Gene Therapy: Translation From Clinical Trial To Benchtop And Back Again, Alisha M. Gruntman, Gwladys Gernoux, Gensheng Wang, Janet Benson, Jeff Chulay, Dave Knop, Christian Mueller, Terence R. Flotte 2017 University of Massachusetts Medical School

Evolution Of The Alpha-1 Antitrypsin Muscle Gene Therapy: Translation From Clinical Trial To Benchtop And Back Again, Alisha M. Gruntman, Gwladys Gernoux, Gensheng Wang, Janet Benson, Jeff Chulay, Dave Knop, Christian Mueller, Terence R. Flotte

UMass Center for Clinical and Translational Science Research Retreat

Alpha-one antitrypsin (AAT) deficiency is a genetic disease affecting the lungs due to inadequate anti-protease activity in the pulmonary interstitium. On-going human trials use intra-muscular delivery of adeno-associated virus (rAAV1), allowing expressing myofibers to secrete normal (M)AAT protein. In the Phase IIa trial, patients in the highest dose cohort (6x1012vg/kg) were given 100 intra-muscular (IM) injections of undiluted vector, with serum AAT levels still substantially below target levels. Previous work has shown that delivering rAAV vector to the musculature via limb perfusion leads to widespread gene expression in myofibers. We hypothesize that widespread delivery would result ...


An Innovative Nurse-Managed Transition Clinic For Adolescents And Young Adults With Spina Bifida: A Pilot Study, Mohammad Alkawaldeh, Rebecca Sherlock, Estranda Carlos, Erika Alkhawaldeh 2017 University of Massachusetts Amherst

An Innovative Nurse-Managed Transition Clinic For Adolescents And Young Adults With Spina Bifida: A Pilot Study, Mohammad Alkawaldeh, Rebecca Sherlock, Estranda Carlos, Erika Alkhawaldeh

UMass Center for Clinical and Translational Science Research Retreat

Background. Transition from pediatric to adult care for patients with complex illness is challenging. The Spina Bifida Center at Boston Children’s Hospital (SBC) has approximately 650 patients, of which 25% (N=162) are ≥ 18 years of age. The SBC has not had a structured paradigm for successful transition. A first transition clinic with our pediatric and adult care urology partners was initiated in August 2016.

Methods. A 20 question (TRAQ: Transition Readiness Assessment Questionnaire) paper survey was distributed to patients in the first Spina Bifida Transition Clinic at Boston Children's Hospital. TRAQ is a validated, patient-centered questionnaire which ...


Video Capsule Endoscopy In Patients With Muir-Torre Syndrome, Erik Holzwanger, Yasir Al-Azzawi, David R. Cave 2017 University of Massachusetts Medical School

Video Capsule Endoscopy In Patients With Muir-Torre Syndrome, Erik Holzwanger, Yasir Al-Azzawi, David R. Cave

UMass Center for Clinical and Translational Science Research Retreat

Introduction: Muir-Torre Syndrome (MTS) is a rare, primarily autosomal dominant disorder that is distinguished by having sebaceous skin malignancies in addition to visceral malignancies. The most common form of MTS is a variant of HNPCC. Our aim is to demonstrate the utilization of VCE in patients with MTS as the first line screening method.

Methods: Single center, retrospective chart review study of outpatients with MTS who underwent a video capsule endoscopy study between January 2006 and January 2016.

Results: Four patients, all women and mean age of 57 years old, with MTS underwent a video capsule endoscopy at our institution ...


Audiology Students’ Perception Of Hybrid Simulation Experiences: Qualitative Evaluation Of Debriefing Sessions, Ahmad A. Alanazi, Nannette Nicholson, Samuel R. Atcherson, Clifford A. Franklin, Naveen K. Nagaraj, Michael Anders, Laura Smith-Olinde 2017 University of Arkansas for Medical Sciences; University of Arkansas at Little Rock; King Saud bin Abdulaziz University for Health Sciences

Audiology Students’ Perception Of Hybrid Simulation Experiences: Qualitative Evaluation Of Debriefing Sessions, Ahmad A. Alanazi, Nannette Nicholson, Samuel R. Atcherson, Clifford A. Franklin, Naveen K. Nagaraj, Michael Anders, Laura Smith-Olinde

Journal of Early Hearing Detection and Intervention

Simulation-based research is still new in the audiology field and requires more research to better understand students’ perspectives on standardized patients/parents (SPs) and manikins use. There is also limited research about debriefing practices in audiology. This qualitative study used a baby simulator and SPs to evaluate audiology students’ reflection during three debriefing sessions conducted at the University of Arkansas for Medical Science (UAMS) Simulation Center. Seventeen Doctor of Audiology (AuD) students participated in the simulation event, and the data were collected using the transcripts of videotaped debriefing sessions. The qualitative content analysis of the transcripts revealed eight sub-themes: support ...


Lymphoid Hematopoiesis And The Role Of B-Cells In Transgenic Mouse Model Of Sickle Cell Disease, Christina Cotte 2017 University of Connecticut - Storrs

Lymphoid Hematopoiesis And The Role Of B-Cells In Transgenic Mouse Model Of Sickle Cell Disease, Christina Cotte

University Scholar Projects

Sickle cell disease (SCD) has been shown to be associated with decreased baseline immunity and thus increased susceptibility to infection. I sought to discern possible causes of this by looking into the correlations between SCD and hematopoiesis, the immune system and the neuroendocrine system, and ultimately by conducting experiments surrounding the impaired immune system of SCD. These experiments focused on the potential causes and effects of the diminution of B-1a cells in the SCD spleen. Adoptive transfers, infections with Streptococcus pneumoniae, and histologic imaging were conducted to establish if the diminution of the B-1a cells in the SCD spleen is ...


A Description Of The Methods Of The Aspirin Supplementation For Pregnancy Indicated Risk Reduction In Nulliparas (Aspirin) Study, Matthew K. Hoffman, Shivaprasad S. Goudar, Bhalachandra S. Kodkany, Norman Goco, Marion Koso-Thomas, Menachem Miodovnik, Elizabeth M. McClure, Dennis D. Wallace, Jennifer J. emingway-Foday, Antoinette Tshefu, Adrien Lokangaka, Carl L. Bose, Elwyn Chomba, Musaku Mwenechanya, Waldemar A. Carlo, Ana Garces, Nancy F. Krebs, K. Michael Hambidge, Sarah Saleem, Robert L. Goldenberg, Archana Patel, Patricia L. Hibberd, Fabian Esamai, Edward A. Liechty, Robert Silver, Richard J. Derman 2017 Christiana Care, Newark, DE USA

A Description Of The Methods Of The Aspirin Supplementation For Pregnancy Indicated Risk Reduction In Nulliparas (Aspirin) Study, Matthew K. Hoffman, Shivaprasad S. Goudar, Bhalachandra S. Kodkany, Norman Goco, Marion Koso-Thomas, Menachem Miodovnik, Elizabeth M. Mcclure, Dennis D. Wallace, Jennifer J. Emingway-Foday, Antoinette Tshefu, Adrien Lokangaka, Carl L. Bose, Elwyn Chomba, Musaku Mwenechanya, Waldemar A. Carlo, Ana Garces, Nancy F. Krebs, K. Michael Hambidge, Sarah Saleem, Robert L. Goldenberg, Archana Patel, Patricia L. Hibberd, Fabian Esamai, Edward A. Liechty, Robert Silver, Richard J. Derman

Community Health Sciences

Background: Preterm birth (PTB) remains the leading cause of neonatal mortality and long term disability throughout the world. Though complex in its origins, a growing body of evidence suggests that first trimester administration of low dose aspirin (LDA) may substantially reduce the rate of PTB.
Methods: Hypothesis: LDA initiated in the first trimester reduces the risk of preterm birth. Study Design Type: Prospective randomized, placebo-controlled, double-blinded multi-national clinical trial conducted in seven low and middle income countries. Trial will be individually randomized with one-to-one ratio (intervention/control) Population: Nulliparous women between the ages of 14 and 40, with ...


Persistent Neurobehavioral Traits In A Mouse Model Of Prenatal Ethanol Exposure, Jill M. Lawrence 2017 Ursinus College

Persistent Neurobehavioral Traits In A Mouse Model Of Prenatal Ethanol Exposure, Jill M. Lawrence

Neuroscience Honors Papers

Fetal Alcohol Spectrum Disorders (FASD) effect an estimated 2% of the population, causing a range of symptoms: from craniofacial defects to inhibited cortical growth (May, et al., 2009; Murawski, et al., 2015). Impaired medial forebrain function apparent in FASD is associated with lifelong cognitive behavioral deficits, but these consequences may be avoided with early diagnosis and intervention (Streissguth, et al., 2004). Our goal is to identify early neurobehavioral abnormalities that persist into adulthood that could potentially serve as early indicators for FASD. Mouse models of prenatal ethanol exposure were developed using a voluntary drinking paradigm that introduced a sweetened ethanol ...


Vibrotactile Stimulation: A Non-Pharmacological Intervention For Opioid-Exposed Newborns, Ian Zuzarte, Premananda Indic, Bruce A. Barton, David Paydarfar, Francis Bednarek, Elisabeth B. Salisbury 2017 University of Massachusetts Medical School

Vibrotactile Stimulation: A Non-Pharmacological Intervention For Opioid-Exposed Newborns, Ian Zuzarte, Premananda Indic, Bruce A. Barton, David Paydarfar, Francis Bednarek, Elisabeth B. Salisbury

Open Access Articles

OBJECTIVE: To examine the therapeutic potential of stochastic vibrotactile stimulation (SVS) as a complementary non-pharmacological intervention for withdrawal in opioid-exposed newborns. STUDY DESIGN: A prospective, within-subjects single-center study was conducted in 26 opioid-exposed newborns ( > 37 weeks; 16 male) hospitalized since birth and treated pharmacologically for Neonatal Abstinence Syndrome. A specially-constructed mattress delivered low-level SVS (30-60Hz, 10-12mum RMS), alternated in 30-min intervals between continuous vibration (ON) and no vibration (OFF) over a 6-8 hr session. Movement activity, heart rate, respiratory rate, axillary temperature and blood-oxygen saturation were calculated separately for ON and OFF. RESULTS: There was a 35% reduction in movement ...


Mucopolysaccharidosis Type I Newborn Screening: Best Practices For Diagnosis And Management., Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C Ronald Ronald Scott, David W. Stockton, Janet A. Thomas, Joseph Muenzer 2017 Children's Mercy Hospital

Mucopolysaccharidosis Type I Newborn Screening: Best Practices For Diagnosis And Management., Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C Ronald Ronald Scott, David W. Stockton, Janet A. Thomas, Joseph Muenzer

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.


External Cardioversion Of Supraventricular Tachycardia In Omphalo-Thoracopagus Conjoined Twins., M Rizwan Afzal, Lindsey Malloy-Walton, Svjetlana Tisma-Dupanovic, Andrea L. Miles, Sanket Shah, John Papagiannis 2017 Children's Mercy Hospital

External Cardioversion Of Supraventricular Tachycardia In Omphalo-Thoracopagus Conjoined Twins., M Rizwan Afzal, Lindsey Malloy-Walton, Svjetlana Tisma-Dupanovic, Andrea L. Miles, Sanket Shah, John Papagiannis

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.


Class I-Restricted T-Cell Responses To A Polymorphic Peptide In A Gene Therapy Clinical Trial For Alpha-1-Antitrypsin Deficiency, Roberto Calcedo, Suryanarayan Somanathan, Qiuyue Qin, Michael R. Betts, Andrew J. Rech, Robert H. Vonderheide, Christian Mueller, Terence R. Flotte, James M. Wilson 2017 University of Pennsylvania

Class I-Restricted T-Cell Responses To A Polymorphic Peptide In A Gene Therapy Clinical Trial For Alpha-1-Antitrypsin Deficiency, Roberto Calcedo, Suryanarayan Somanathan, Qiuyue Qin, Michael R. Betts, Andrew J. Rech, Robert H. Vonderheide, Christian Mueller, Terence R. Flotte, James M. Wilson

Pediatric Publications and Presentations

Adeno-associated virus (AAV)-mediated gene therapy is currently being pursued as a treatment for the monogenic disorder alpha-1-antitrypsin (AAT) deficiency. Results from phase I and II studies have shown relatively stable and dose-dependent increases in transgene-derived wild-type AAT after local intramuscular vector administration. In this report we describe the appearance of transgene-specific T-cell responses in two subjects that were part of the phase II trial. The patient with the more robust T-cell response, which was associated with a reduction in transgene expression, was characterized more thoroughly in this study. We learned that the AAT-specific T cells in this patient were ...


Infection Control In Labor And Delivery Room, Learning From The Small Hospital Based Project, Savera Aziz Ali, Sumera Aziz Ali 2017 Aga Khan University

Infection Control In Labor And Delivery Room, Learning From The Small Hospital Based Project, Savera Aziz Ali, Sumera Aziz Ali

School of Nursing & Midwifery

Background: It has been estimated that around 36% of the neonatal deaths occur due to infection in the lower and middle income countries. Infection control is a more substantial area of concern, particularly in Labor and delivery room. Multiple factors can cause infection in the labor room, therefore it is important to assess various factors of maternal and neonatal infection. Hence we explored multiple factors through this project and developed the action plan to address those factors effectively.
Methods: During our Leadership and Management course, we conducted a project in Labor room pertaining to a prevalent issue. The whole process ...


High Throughput In Vivo Functional Validation Of Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Margaret Nettleton, Adam Richman, Zhe Han 2017 George Washington University

High Throughput In Vivo Functional Validation Of Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Margaret Nettleton, Adam Richman, Zhe Han

Pediatrics Faculty Publications

Genomic sequencing has implicated large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system is needed to validate gene associations with pathology. We developed a Drosophila-based functional system to screen candidate disease genes identified from Congenital Heart Disease (CHD) patients. 134 genes were tested in the Drosophila heart using RNAi-based gene silencing. Quantitative analyses of multiple cardiac phenotypes demonstrated essential structural, functional, and developmental roles for more than 70 genes, including a subgroup encoding histone H3K4 modifying proteins. We also demonstrated the use of Drosophila to evaluate cardiac phenotypes resulting ...


Promotion Of Early Pediatric Hearing Detection Through Patient Navigation, Matthew L. Bush 2017 University of Kentucky

Promotion Of Early Pediatric Hearing Detection Through Patient Navigation, Matthew L. Bush

Theses and Dissertations--Clinical and Translational Science

Congenital hearing loss is the most common neonatal sensory disorder and it is crucial to diagnose hearing loss as soon as possible after birth in order to facilitate rapid treatment. Universal standards of infant hearing healthcare dictate that infant hearing screening should be completed by one month of age and abnormal screening tests should be followed with definitive audiological testing by three months of age. Obtaining diagnostic testing can be complicated by limited access to care in rural areas, breakdowns in communication, lack of parental support, and poor coordination of care. There is no established method to address appointment non-adherence ...


Relationship Between Hospital Procedure Volume And Complications Following Congenital Cardiac Catheterization: A Report From The Improving Pediatric And Adult Congenital Treatment (Impact) Registry., Natalie Jayaram, John A. Spertus, Michael L. O'Byrne, Paul S. Chan, Kevin F. Kennedy, Lisa Bergersen, Andrew C. Glatz 2017 Children's Mercy Hospital

Relationship Between Hospital Procedure Volume And Complications Following Congenital Cardiac Catheterization: A Report From The Improving Pediatric And Adult Congenital Treatment (Impact) Registry., Natalie Jayaram, John A. Spertus, Michael L. O'Byrne, Paul S. Chan, Kevin F. Kennedy, Lisa Bergersen, Andrew C. Glatz

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The association between institutional volume and outcomes has been demonstrated for cardiac catheterization among adults, but less is known about this relationship for patients with congenital heart disease (CHD) undergoing cardiac catheterization.

METHODS: Within the IMPACT registry, we identified all catheterizations between January 2011 and March 2015. Hierarchical logistic regression, adjusted for patient and procedural characteristics, was used to determine the association between annual catheterization lab volume and occurrence of a major adverse event (MAE).

RESULTS: Of 56,453 catheterizations at 77 hospitals, an MAE occurred in 1014 (1.8%) of cases. In unadjusted analysis, a MAE occurred in ...


Abnormal Glycosylation In Joubert Syndrome Type 10., Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Ian G Phelps, Gilbert Vezina, +several additional authors 2017 George Washington University

Abnormal Glycosylation In Joubert Syndrome Type 10., Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Ian G Phelps, Gilbert Vezina, +Several Additional Authors

Neurology Faculty Publications

BACKGROUND: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried the OFD1 mutation p.Gln886Lysfs*2 (NM_003611.2: c.2656del) and manifested features of Joubert syndrome.

METHODS: We integrated exome sequencing, MALDI-TOF mass spectrometry analyses of plasma and cultured dermal fibroblasts glycomes, and full clinical evaluation of the proband. Analyses of cilia formation and lectin staining were performed by immunofluorescence. Measurement of cellular nucleotide sugar levels was performed with high-performance anion-exchange ...


Biomarkers Of Sepsis: A Retrospective Approach, Jose M. Roberts 2017 The University of Akron

Biomarkers Of Sepsis: A Retrospective Approach, Jose M. Roberts

Williams Honors College, Honors Research Projects

Background: Biomarkers are taking the spotlight in becoming the norm for early diagnoses. Sepsis is an inflammatory disease that increases metabolic rate in children. The first biomarker is hyponatremia. Hyponatremia is a frequent electrolyte imbalance in clinical practice, often observed in children with inflammatory disease and infection. Presence of hyponatremia is associated with electrical signaling imbalances, inflammation and renal dysfunction. The clinical value of hyponatremia in pediatric patients is unknown. The C-reactive protein is a second biomarker. Its presence signifies that necrotic cells and inflammation are present.

Objectives: To evaluate the use of biomarkers in children seen in the Emergency ...


Novel Roles Of Adhesion G Protein-Coupled Receptors In Cardiovascular Development, Andrew Poggemiller 2017 University of Iowa

Novel Roles Of Adhesion G Protein-Coupled Receptors In Cardiovascular Development, Andrew Poggemiller

Honors Theses at the University of Iowa

Congenital heart disease is the most common congenital birth defect, affecting 1.35 million newborns every year. Though therapeutic techniques have been developed to assist those afflicted, new issues arise as those that have been treated may have a higher likelihood to pass on their cardiovascular defect to their children. Adhesion G protein-coupled receptors are an increasingly studied member of the G protein-coupled receptor superfamily. aGPCRs have a wide array of molecular mechanisms that it affects; however, their role in the development of organ systems, specifically the cardiovascular system, is the focus of our research. When screening for aGPCRs within ...


Histone Deacetylase 3 Coordinates Heart Development Through Stage-Specific Roles In Cardiac Progenitor Cells, Sara L. Lewandowski 2016 University of Massachusetts Medical School

Histone Deacetylase 3 Coordinates Heart Development Through Stage-Specific Roles In Cardiac Progenitor Cells, Sara L. Lewandowski

GSBS Dissertations and Theses

Disruptions in cardiac development cause congenital heart disease, the most prevalent and deadly congenital malformation. Genetic and environmental factors are thought to contribute to these defects, however molecular mechanisms remain largely undefined. Recent work highlighted potential roles of chromatin- modifying enzymes in congenital heart disease pathogenesis. Histone deacetylases, a class of chromatin-modifying enzymes, have developmental importance and recognized roles in the mature heart. This thesis aimed to characterize functions of Hdac3 in cardiac development. We found loss of Hdac3 in the primary heart field causes precocious progenitor cell differentiation, resulting in hypoplastic ventricular walls, ventricular septal defect, and mid- gestational ...


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