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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

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All Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Emicizumab-Kxwh: A Critical Review, Kiera O'Leary 2022 Munster Technological University, Rossa Ave, Bishopstown, Cork, Ireland, T12 P928

Emicizumab-Kxwh: A Critical Review, Kiera O'Leary

International Undergraduate Journal of Health Sciences

The first descriptions of haemophilia A were reported in the second century AD, with the first modern description by John Conrad Otto in 1803. Historically, the natural history of haemophilia A was associated with very high rates morbidity and mortality, often following trivial accidents. Although treatment options for haemophilia A have been revolutionised in recent decades, haemophilia A remains a hereditary disease of concern and factor replacement products remain the mainstay of treatment.

As such, patients with haemophilia can carry huge burdens, particularly when a complication such as a FVIII inhibitor is present. A recently approved novel therapeutic, Emicizumab-kxwh, has ...


Thromboelastography Profiles Of Hemophilia A Patients On Emicizumab, Daniel J. VanZweden, Meera Chitlur, Charity J. Stadler 2022 Wayne State University

Thromboelastography Profiles Of Hemophilia A Patients On Emicizumab, Daniel J. Vanzweden, Meera Chitlur, Charity J. Stadler

Medical Student Research Symposium

Emicizumab is a new monoclonal antibody developed to dtreat people with Hemophilia A, especially those with antibodies. However, breakthrough bleeding can still occur in patients taking Emicizumab. TEG is a global coagulation assay which measures coagulability through viscosity. This study describes the use of tissue factor activated TEG in measuring bleeding profiles in patients taking Emicizumab. The goal of this prospective study is to determine if TEG can be used, which variables of TEG might be useful, and how much more useful it is than the current standard, aPtt. Findings include a 25% increased R time and 24% increased K ...


Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons 2022 University of Maine

Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons

Electronic Theses and Dissertations

Elimination of primary cilia in cardiac neural crest cell (CNCC) progenitors is hypothesized to cause a variety of congenital heart defects (CHDs), including atrioventricular septal defects, and malformations of the developing cardiac outflow tract. We present an in vivo model of CHD resulting from the conditional elimination of primary cilia from CNCC using multiple, Wnt1:Cre-loxP, neural crest-specific systems, targeting two distinctive, but critical, primary cilia structural genes: Intraflagellar transport protein 88 (Ift88) or kinesin family member 3A (Kif3a). CNCC loss of primary cilia leads to widespread CHD, where homozygous mutant embryos (MUT) display a variety of outflow tract malformations ...


Congenital Cardiac Defects, Mikey Bryant 2022 UMass Chan Medical School

Congenital Cardiac Defects, Mikey Bryant

PEER Liberia Project

This presentation is part of the PEER Liberia Pediatrics Lecture Series. It provides an overview for physicians on the diagnosis and management of congenital cardiac defects.


Fortuitous Diagnosis Of Total Anomalous Pulmonary Venous Return In A Newborn With Hypoglycemia, Joseph Maes, Terence Zach 2022 Creighton University

Fortuitous Diagnosis Of Total Anomalous Pulmonary Venous Return In A Newborn With Hypoglycemia, Joseph Maes, Terence Zach

Child Health Research Institute Pediatric Research Forum

No abstract provided.


A Hidden Cause For Electrolyte Derangement In The Ed: Gitelman Syndrome, Alexis Dunn, James Espinosa, Alan Lucerna, Kevin Dwyer 2022 Rowan University

A Hidden Cause For Electrolyte Derangement In The Ed: Gitelman Syndrome, Alexis Dunn, James Espinosa, Alan Lucerna, Kevin Dwyer

Stratford Campus Research Day

Electrolyte derangements are a common finding in the emergency department, whether incidental or the cause for presenting symptoms. Gitelman syndrome (GS) can be the cause for recurrent hypokalemia and hypomagnesemia. While often diagnosed when the patient is young, a clinician should keep this on the differential when seeing repeated visits with electrolyte deficiencies and treating them. Here we discuss a case of how Gitelman syndrome has presented in the ED and what to learn from it.


A Novel Approach To Triosephosphate Isomerase Deficiency, Kyra McCarty 2022 Children's Mercy Hospital

A Novel Approach To Triosephosphate Isomerase Deficiency, Kyra Mccarty

Research Days

Background: Triosephosphate isomerase deficiency (TPID) is a glycolytic pathway enzymopathy causing hemolytic anemia and neurologic dysfunction. TPID is caused by mutations in the TPI1 gene. These patients experience severe hemolytic anemia in infancy followed by progressive neurodegeneration. Diagnosis of TPID is made by measuring decreased TPI enzyme activity elevated dihydroxyacetone phosphate (DHAP) levels in the blood. The diagnosis is confirmed by molecular genetic testing. Neurological involvement typically manifests between 6 and 24 months of age, causing progressive motor dysfunction. Chronic axonal neuropathy is often present on nerve biopsy, and peripheral neuropathy is evident on electrophysiologic studies. Splenectomy and blood transfusions ...


Sigirr Variants Identified In Nec Infants Exaggerate Toll-Like Receptor Mediated Inflammation, Jennie Godwin 2022 Children's Mercy Hospital

Sigirr Variants Identified In Nec Infants Exaggerate Toll-Like Receptor Mediated Inflammation, Jennie Godwin

Research Days

Background: A key event underlying uncontrolled inflammation in necrotizing enterocolitis (NEC) is pathologic activation of Toll-like receptors (TLR). TLR4 recognizes lipopolysaccharide (LPS), from Gramnegative bacteria, and TLR2 peptidoglycans (PAM3Csyk4, PAM), from Gram-positive bacteria. TLR4 and TLR2 signaling events induce an inflammatory cascade through NF-kB, a cytokine inducing transcription factor. Single-immunoglobulin interleukin-1-related receptor (SIGIRR) is a major negative regulator of TLR-mediated NF-kB activation. Previous work from our lab suggests that loss of function in SIGIRR may predispose to NEC. Our lab has identified four variants in NEC patients predicted to alter function of SIGIRR. We hypothesized that identified SIGIRR variants will ...


Development Of A Nurse Practitioner Driven Program For Cardiology Providers To Increase Knowledge And Awareness Of Neurodevelopmental Assessment Needs In Children With Congenital Heart Defects, Michele Readman 2022 University of San Diego

Development Of A Nurse Practitioner Driven Program For Cardiology Providers To Increase Knowledge And Awareness Of Neurodevelopmental Assessment Needs In Children With Congenital Heart Defects, Michele Readman

Doctor of Nursing Practice Final Manuscripts

Children diagnosed with congenital heart defects are at increased risk for neurodevelopmental delays. Timely referral of patients to a neurodevelopmental clinic for initial evaluation and referrals to support services can improve learning outcomes, provide early intervention for neurodevelopmental disorders, and mediate factors affecting low quality of life. Nationally, a substantial proportion of pediatric cardiologists are not referring children for neurodevelopmental evaluation. A review of patient referrals to a Cardiac Neurodevelopmental Clinic within an urban children’s hospital demonstrated an opportunity to improve provider awareness and knowledge of referral recommendations. Using the Iowa Model of Evidence-Based Practice to Promote Quality Care ...


Increasing Awareness Of Hereditary Fructose Intolerance: An Evidence-Based Practice Implementation Project, Jacqueline M. Bridge 2022 Sacred Heart University

Increasing Awareness Of Hereditary Fructose Intolerance: An Evidence-Based Practice Implementation Project, Jacqueline M. Bridge

DNP Projects

Background: Hereditary Fructose Intolerance (HFI) is an inborn error of metabolism which results in the absence of an effective Aldolase B enzyme. Without this enzyme, ingestion of fructose and metabolic precursors leads to acute illness, multiorgan damage, and possible death. The increased presence of these sugars results in earlier onset of symptoms and more difficulty for those with HFI.

Purpose: The project’s aim is to increase awareness of HFI in healthcare providers using a learning module and assessments of knowledge at three different points in time.

Methods: The IOWA model for evidence-based practice projects was applied during the development ...


An Exploration Of Psychological Trauma And Positive Adaptation In Adults With Congenital Heart Disease During The Covid-19 Pandemic, Liza Morton Dr, Calum Calderwood, Nicola Cogan, Claire Murphy, Evan Nix, Jacek Kolacz Dr 2022 Glasgow Caledonian University

An Exploration Of Psychological Trauma And Positive Adaptation In Adults With Congenital Heart Disease During The Covid-19 Pandemic, Liza Morton Dr, Calum Calderwood, Nicola Cogan, Claire Murphy, Evan Nix, Jacek Kolacz Dr

Patient Experience Journal

The growing population of adults with congenital heart disease (CHD) often have lifelong experience of dealing with potentially traumatic health crises and medical uncertainty whilst facing increased vulnerability to post-traumatic stress disorder (PTSD). The COVID-19 pandemic presents additional challenges for this population including increased risk of health complications, shielding and strict social distancing, changes to medical care provision and social stigma. Despite such challenges, adults with CHD have the potential to also experience positive changes, yet little is known as to what helps cultivate positive adaptation and post-traumatic growth (PTG) within this context. The current study comprised a cross-sectional, anonymous ...


Congenital Problems, Mikey Bryant 2022 UMass Chan Medical School

Congenital Problems, Mikey Bryant

PEER Liberia Project

This presentation is part of the PEER Liberia Pediatrics Lecture Series. It provides an overview for physicians of the diagnosis and treatment of congenital diseases and abnormalities, including Down Syndrome, Klinefelter’s Syndrome, Patau Syndrome (Trisomy 13), Turner Syndrome, congenital heart problems, and Trisomy 18 (Edward's Syndrome).


Individuals With Sickle Cell Disease Using Sbar As A Communication Tool: Secondary Data Analysis, Deborah M. Jean-Baptiste 2022 UMass Chan Medical School

Individuals With Sickle Cell Disease Using Sbar As A Communication Tool: Secondary Data Analysis, Deborah M. Jean-Baptiste

Tan Chingfen Graduate School of Nursing Dissertations

Purpose: The purpose of this study was to determine the usefulness of SBAR-cued web-based communication skills training and address study participants' perceptions of the training.

Specific Aims:

  1. Evaluate the usefulness and accuracy of participants to answer prompts of SBAR-cued communication responses.
  2. Describe individuals' perspectives of the acceptability of using SBAR patient-HCP communication simulation to better prepare for ED visits during a SCC.

Framework: This study was guided by The Theory of Self-Care Management for Sickle Cell Disease (SCMSCD).

Design: A secondary analysis was conducted using a qualitative descriptive approach. Inter-rater reliability (IRR) of qualitative data was used to evaluate the ...


The Parkinson's Wellness Project: An 8-Part Educational Video Series, Samantha L. Stevenson 2022 Belmont University

The Parkinson's Wellness Project: An 8-Part Educational Video Series, Samantha L. Stevenson

OTD Capstone Projects

The Parkinson’s Wellness Project is an 8-part educational video series created by Samantha Stevenson, a student in Belmont University’s Doctorate Program in Occupational Therapy. Purpose: This project was created to benefit all persons with Parkinson’s disease (PD) and their care partners who attend Rocksteady Boxing (RSB) in Franklin/Nashville, TN. Methodology: The student conducted research to identify the salient issues experienced by people living with PD. The issues were then synthesized into 8 separate categories including the following: facial expression, mental health, sexual health, self-care, sleep, diet and nutrition, meditation, and postural alignment. Experts in the healthcare ...


Alzheimer's And Patient Caregiver Burnout: A Review Of The Literature, Madeline Hekeler 2022 James Madison University

Alzheimer's And Patient Caregiver Burnout: A Review Of The Literature, Madeline Hekeler

James Madison Undergraduate Research Journal (JMURJ)

The term “silent epidemic” is fitting for Alzheimer’s disease (AD), as its negative impact is widely felt but rarely discussed. Burnout among AD caregivers has become an epidemic of its own as caregivers experience an increase in health risks, stress, and financial burden. This literature review focuses on caregiver burnout and how imperative it is that caregivers are better supported in their role. Researchers have developed instruments to assess and intervene in caregiver burnout that have shown effectiveness among caregivers and their families.Nevertheless, further longitudinal research is warranted regarding more effective interventions, including stress management and social support ...


Outcome Measures In Facioscapulohumeral Muscular Dystrophy Clinical Trials, Mehdi Ghasemi, Charles P. Emerson Jr., Lawrence J. Hayward 2022 UMass Chan Medical School

Outcome Measures In Facioscapulohumeral Muscular Dystrophy Clinical Trials, Mehdi Ghasemi, Charles P. Emerson Jr., Lawrence J. Hayward

UMass Chan Medical School Faculty Publications

Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the underlying mechanism of epigenetic derepression of the double homeobox 4 (DUX4) gene leading to skeletal muscle toxicity was identified. This has facilitated the rapid development of novel therapies to target DUX4 expression and downstream dysregulation that cause muscle degeneration. These discoveries and pre-clinical translational studies have opened new avenues for therapies that await evaluation in clinical trials. As the field anticipates more FSHD trials, the ...


Balanced Chromosomal Rearrangements Offer Insights Into Coding And Noncoding Genomic Features Associated With Developmental Disorders [Preprint], Chelsea Lowther, Beverly N. Hay, Niels Tommerup, Michael E. Talkowski 2022 Massachusetts General Hospital

Balanced Chromosomal Rearrangements Offer Insights Into Coding And Noncoding Genomic Features Associated With Developmental Disorders [Preprint], Chelsea Lowther, Beverly N. Hay, Niels Tommerup, Michael E. Talkowski

UMass Chan Medical School Faculty Publications

Balanced chromosomal rearrangements (BCRs), including inversions, translocations, and insertions, reorganize large sections of the genome and contribute substantial risk for developmental disorders (DDs). However, the rarity and lack of systematic screening for BCRs in the population has precluded unbiased analyses of the genomic features and mechanisms associated with risk for DDs versus normal developmental outcomes. Here, we sequenced and analyzed 1,420 BCR breakpoints across 710 individuals, including 406 DD cases and the first large-scale collection of 304 control BCR carriers. We found that BCRs were not more likely to disrupt genes in DD cases than controls, but were seven-fold ...


Imyoblasts For Ex Vivo And In Vivo Investigations Of Human Myogenesis And Disease Modeling, Dongsheng Guo, Katelyn Daman, Jennifer Jc Chen, Meng-Jiao Shi, Jing Yan, Zdenka Matijasevic, Rene Maehr, Oliver D. King, Lawrence J. Hayward, Charles P. Emerson Jr. 2022 UMass Chan Medical School

Imyoblasts For Ex Vivo And In Vivo Investigations Of Human Myogenesis And Disease Modeling, Dongsheng Guo, Katelyn Daman, Jennifer Jc Chen, Meng-Jiao Shi, Jing Yan, Zdenka Matijasevic, Rene Maehr, Oliver D. King, Lawrence J. Hayward, Charles P. Emerson Jr.

UMass Chan Medical School Faculty Publications

Skeletal muscle myoblasts (iMyoblasts) were generated from human induced pluripotent stem cells (iPSCs) using an efficient and reliable transgene-free induction and stem cell selection protocol. Immunofluorescence, flow cytometry, qPCR, digital RNA expression profiling, and scRNA-Seq studies identify iMyoblasts as a PAX3+/MYOD1+ skeletal myogenic lineage with a fetal-like transcriptome signature, distinct from adult muscle biopsy myoblasts (bMyoblasts) and iPSC-induced muscle progenitors. iMyoblasts can be stably propagated for > 12 passages or 30 population doublings while retaining their dual commitment for myotube differentiation and regeneration of reserve cells. iMyoblasts also efficiently xenoengrafted into irradiated and injured mouse muscle where they undergo differentiation ...


Impending Backlog Of Cleft Palate Patients Due To Covid-19, Jacob J. Wood, Garrick Gu, Robert D. Guber, Douglas Miller Rothkopf 2022 UMass Chan Medical School

Impending Backlog Of Cleft Palate Patients Due To Covid-19, Jacob J. Wood, Garrick Gu, Robert D. Guber, Douglas Miller Rothkopf

COVID-19 Publications by UMass Chan Authors

Coronavirus disease 2019 (COVID-19) has placed an unprecedented strain on healthcare systems worldwide, but while high-income countries (HICs) have been able to adapt, low- and middle-income countries (LMICs) have been much slower to do so due to a lack of funding, skilled healthcare providers, equipment, and facilities. The redistribution of resources to combat the pandemic in LMICs has resulted in decreased surgical volumes at local surgical centers as well as a dramatic reduction in the number of humanitarian aid missions. Despite recent global investment in improving the surgical capacities of LMICs, even in the pre-COVID-19 era there was a vast ...


A Fond Farewell, Dennis J. Baumgardner 2022 University of Wisconsin School of Medicine and Public Health

A Fond Farewell, Dennis J. Baumgardner

Journal of Patient-Centered Research and Reviews

In this From the Editor introduction to Volume 9, Issue 1, the retiring editor-in-chief of Journal of Patient-Centered Research and Reviews recalls the history and initial aims of JPCRR, discusses the contents of articles in the current issue, and says good-bye.


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