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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

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Treatment Anxiety Education For Pediatric Cardiac Neurodevelopmental Patients, An Evidence Based Project, Mary Nagel 2021 University of San Diego

Treatment Anxiety Education For Pediatric Cardiac Neurodevelopmental Patients, An Evidence Based Project, Mary Nagel

Doctor of Nursing Practice Final Manuscripts

Abstract

Background

Congenital heart disease (CHD) is the most common birth defect and affects almost 1% of all live births. Treatment anxiety is common among children with CHD who undergo multiple procedures early in their lifetime. Dramatically increased life spans for this cardiac population has led to a shift from focusing on survival to their long-term health outcomes.

Methods:

Administration of the Peds QL Cardiac Module 3.0 assesses health related quality of life (HRQOL) during annual visits to a Cardiac Neurodevelopmental (ND) Clinic by evaluating the level of Treatment Anxiety a patient experiences during healthcare appointments. The questionnaire scores ...


Exploring Tactile Art-Making With Deafblind Students And Their Families: An Opportunity For Creative Play, Alice Rodgers 2021 Lesley University

Exploring Tactile Art-Making With Deafblind Students And Their Families: An Opportunity For Creative Play, Alice Rodgers

Expressive Therapies Capstone Theses

The impact of a deafblind diagnosis on an individual’s mental health and the well-being of the family involved can be profound. However, current research and available literature for the mental health treatment and therapy practices of deafblind persons and their families is limited (Kyzar et al., 2016; “WFDB Global Report 2018,” n.d.). This thesis used the Leeds Family Psychology and Therapy Service principles (Leeds FPTS) and the Expressive Therapies Continuum with established deafblind teaching strategies to facilitate an original arts-based community project entitled: “Things We Like.” This project provided an opportunity for deafblind students (ages three to 22 ...


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 2021 Liberty University

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 ...


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 2021 Advocate Aurora Health

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 ...


Genomic Education – Bench To Bedside: A Novel Approach To Teaching Genetic Diagnosis, J. Keith Williams, Michael M. Segal, Lynn K. Feldman 2021 Nova Southeastern University, Ft. Lauderdale

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 ...


Dnp Final Report: Breaking The Cycle: Care Coordination Interventions And Sickle Cell Readmissions, Naphtali Edge 2021 University of Texas at Tyler

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 ...


Study Design And Rationale For A Randomized Controlled Trial To Assess Effectiveness Of Stochastic Vibrotactile Mattress Stimulation Versus Standard Non-Oscillating Crib Mattress For Treating Hospitalized Opioid-Exposed Newborns, Elisabeth B. Salisbury, Debra Bogen, Mark A. Vining, Dane Netherton, Nicolas Rodriguez, Tory Bruch, Cheryl Burns, Emily Erceg, Barbara Glidden, M. Didem Ayturk, Sanjay Aurora, Toby Yanowitz, Bruce A. Barton, Sue Beers 2021 University of Massachusetts Medical School

Study Design And Rationale For A Randomized Controlled Trial To Assess Effectiveness Of Stochastic Vibrotactile Mattress Stimulation Versus Standard Non-Oscillating Crib Mattress For Treating Hospitalized Opioid-Exposed Newborns, Elisabeth B. Salisbury, Debra Bogen, Mark A. Vining, Dane Netherton, Nicolas Rodriguez, Tory Bruch, Cheryl Burns, Emily Erceg, Barbara Glidden, M. Didem Ayturk, Sanjay Aurora, Toby Yanowitz, Bruce A. Barton, Sue Beers

University of Massachusetts Medical School Faculty Publications

The incidence of Neonatal Abstinence Syndrome (NAS) continues to rise and there remains a critical need to develop non-pharmacological interventions for managing opioid withdrawal in newborns. Objective physiologic markers of opioid withdrawal in the newborn remain elusive. Optimal treatment strategies for improving short-term clinical outcomes and promoting healthy neurobehavioral development have yet to be defined. This dual-site randomized controlled trial (NCT02801331) is designed to evaluate the therapeutic efficacy of stochastic vibrotactile stimulation (SVS) for reducing withdrawal symptoms, pharmacological treatment, and length of hospitalization, and for improving developmental outcomes in opioid-exposed neonates. Hospitalized newborns (n = 230) receiving standard clinical care for ...


Rpgr Isoform Imbalance Causes Ciliary Defects Due To Exon Orf15 Mutations In X-Linked Retinitis Pigmentosa (Xlrp), Laura Moreno-Leon, Emma L. West, Michelle O'Hara-Wright, Linjing Li, Rohini Nair, Jie He, Manisha Anand, Bhubanananda Sahu, Venkat Ramana Murthy Chavali, Alexander J. Smith, Robin R. Ali, Samuel G. Jacobson, Artur V. Cideciyan, Hemant Khanna 2021 University of Massachusetts Medical School

Rpgr Isoform Imbalance Causes Ciliary Defects Due To Exon Orf15 Mutations In X-Linked Retinitis Pigmentosa (Xlrp), Laura Moreno-Leon, Emma L. West, Michelle O'Hara-Wright, Linjing Li, Rohini Nair, Jie He, Manisha Anand, Bhubanananda Sahu, Venkat Ramana Murthy Chavali, Alexander J. Smith, Robin R. Ali, Samuel G. Jacobson, Artur V. Cideciyan, Hemant Khanna

Open Access Publications by UMMS Authors

Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause severe retinal ciliopathy, X-linked retinitis pigmentosa. Although two major alternatively spliced isoforms, RPGRex1-19 and RPGRORF15, are expressed, the relative importance of these isoforms in disease pathogenesis is unclear. Here, we analyzed fibroblast samples from eight patients and found that all of them form longer cilia than normal controls, albeit to different degrees. Although all mutant RPGRORF15 messenger RNAs (mRNAs) are unstable, their steady-state levels were similar or higher than those in the control cells, suggesting there may be increased transcription. Three of the fibroblasts that had higher levels of mutant RPGRORF15 mRNA ...


Htt Is A Repressor Of Abl Activity Required For App-Induced Axonal Growth, Claire Marquilly, Germain U. Busto, Brittany S. Leger, Ana Boulanger, Edward Giniger, James A. Walker, Lee G. Fradkin, Jean-Maurice Dura 2021 University of Montpellier

Htt Is A Repressor Of Abl Activity Required For App-Induced Axonal Growth, Claire Marquilly, Germain U. Busto, Brittany S. Leger, Ana Boulanger, Edward Giniger, James A. Walker, Lee G. Fradkin, Jean-Maurice Dura

Open Access Publications by UMMS Authors

Huntington's disease is a progressive autosomal dominant neurodegenerative disorder caused by the expansion of a polyglutamine tract at the N-terminus of a large cytoplasmic protein. The Drosophila huntingtin (htt) gene is widely expressed during all developmental stages from embryos to adults. However, Drosophila htt mutant individuals are viable with no obvious developmental defects. We asked if such defects could be detected in htt mutants in a background that had been genetically sensitized to reveal cryptic developmental functions. Amyloid precursor protein (APP) is linked to Alzheimer's disease. Appl is the Drosophila APP ortholog and Appl signaling modulates axon outgrowth ...


A 5-Year Clinical Follow-Up Study From The Italian National Registry For Fshd, Liliana Vercelli, Louise Maranda, Tiziana Mongini, Rossella Ginevra Tupler 2021 University of Turin

A 5-Year Clinical Follow-Up Study From The Italian National Registry For Fshd, Liliana Vercelli, Louise Maranda, Tiziana Mongini, Rossella Ginevra Tupler

Open Access Publications by UMMS Authors

BACKGROUND: The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined.

METHODS: An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (DeltaFSHD score).

FINDINGS: Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (DeltaFSHD score 2.3 versus 1 ...


Cornelia De Lange Syndrome Research From 1953 To 2020: A Bibliometric Analysis, Dr. Mirza Muhammad Naseer, Dr. Abu Waris 2021 Assistant Professor, Deanship of Library Affairs, Imam Abdulrahman Bin Faisal University Post Box. No. 1982, Dammam, Saudi Arabia

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 ...


Integument: Guidelines For The Care Of People With Spina Bifida, Patricia Beierwaltes, Sharon Munoz, Jennifer Wilhelmy 2020 Minnesota State University, Mankato

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

School of Nursing Faculty 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 2020 Minnesota State University, Mankato

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

School of Nursing Faculty 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 2020 University of Southern California

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 Faculty 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 ...


Large Genotype-Phenotype Study In Carriers Of D4z4 Borderline Alleles Provides Guidance For Facioscapulohumeral Muscular Dystrophy Diagnosis, Giulia Ricci, Rossella Ginevra Tupler 2020 University of Modena and Reggio Emilia

Large Genotype-Phenotype Study In Carriers Of D4z4 Borderline Alleles Provides Guidance For Facioscapulohumeral Muscular Dystrophy Diagnosis, Giulia Ricci, Rossella Ginevra Tupler

Open Access Publications by UMMS Authors

Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is commonly used for FSHD diagnosis. However, the extended molecular testing has expanded the spectrum of clinical phenotypes. In particular, D4Z4 alleles with 9-10 repeat have been found in healthy individuals, in subjects with FSHD or affected by other myopathies. These findings weakened the strict relationship between observed phenotypes and their underlying genotypes, complicating the interpretation ...


Efficacy Of The Nutritional Supplement, Evenflo, In The Management Of Sickle Cell Disease: A Randomized Controlled Trial, Richard Muga, Arthur Ajwang, James Ouma, Josephine Ojigo, Juliana Otieno, Peter Okoth, Caroline Wafula, Sophia Ajwang, David Ogolla, Abraham Hollist, James Adefisoye 2020 School of Clinical Medicine, Uzima University College; County Executive Committee Member for Heath, Home-Bay County

Efficacy Of The Nutritional Supplement, Evenflo, In The Management Of Sickle Cell Disease: A Randomized Controlled Trial, Richard Muga, Arthur Ajwang, James Ouma, Josephine Ojigo, Juliana Otieno, Peter Okoth, Caroline Wafula, Sophia Ajwang, David Ogolla, Abraham Hollist, James Adefisoye

Nursing & Health Sciences Research Journal

Background: In this study, we investigated if a combination of the nutraceutical supplement, EvenFlo and folic acid will be superior to the standard stand-alone use of folic acid.

Methods: We conducted a randomized double-blind, active-controlled, clinical trial. A total of 70 subjects with SCD ages 5-12 years were enrolled into the study with 35 in the intervention group and 35 in the control group; 61 completed the trial (32 from the intervention group and 29 from the control group).

Results: Participants in the intervention group were significantly less likely to experience crises compared to subjects in the control group. None ...


Natural History Study Of Glycan Accumulation In Large Animal Models Of Gm2 Gangliosidoses, Catlyn Cavender, Linley Mangini, Jeremy L. Van Vleet, Carley Corado, Emma McCullagh, Heather L. Gray-Edwards, Douglas R. Martin, Brett E. Crawford, Roger Lawrence 2020 BioMarin Pharmaceutical Inc.

Natural History Study Of Glycan Accumulation In Large Animal Models Of Gm2 Gangliosidoses, Catlyn Cavender, Linley Mangini, Jeremy L. Van Vleet, Carley Corado, Emma Mccullagh, Heather L. Gray-Edwards, Douglas R. Martin, Brett E. Crawford, Roger Lawrence

Open Access Publications by UMMS Authors

beta-hexosaminidase is an enzyme responsible for the degradation of gangliosides, glycans, and other glycoconjugates containing beta-linked hexosamines that enter the lysosome. GM2 gangliosidoses, such as Tay-Sachs and Sandhoff, are lysosomal storage disorders characterized by beta-hexosaminidase deficiency and subsequent lysosomal accumulation of its substrate metabolites. These two diseases result in neurodegeneration and early mortality in children. A significant difference between these two disorders is the accumulation in Sandhoff disease of soluble oligosaccharide metabolites that derive from N- and O-linked glycans. In this paper we describe our results from a longitudinal biochemical study of a feline model of Sandhoff disease and an ...


Cytomegalovirus-Specific T Cell Epitope Recognition In Congenital Cytomegalovirus Mother-Infant Pairs, Emma C. Materne, Daniele Lilleri, Francesca Garofoli, Giuseppina Lombardi, Milena Furione, Maurizio Zavattoni, Laura L. Gibson 2020 University of Massachusetts Medical School

Cytomegalovirus-Specific T Cell Epitope Recognition In Congenital Cytomegalovirus Mother-Infant Pairs, Emma C. Materne, Daniele Lilleri, Francesca Garofoli, Giuseppina Lombardi, Milena Furione, Maurizio Zavattoni, Laura L. Gibson

Open Access Publications by UMMS Authors

Background: Congenital cytomegalovirus (cCMV) infection is the most common infection acquired before birth and from which about 20% of infants develop permanent neurodevelopmental effects regardless of presence or absence of symptoms at birth. Viral escape from host immune control may be a mechanism of CMV transmission and infant disease severity. We sought to identify and compare CMV epitopes recognized by mother-infant pairs. We also hypothesized that if immune escape were occurring, then one pattern of longitudinal CD8 T cell responses restricted by shared HLA alleles would be maternal loss (by viral escape) and infant gain (by viral reversion to wildtype ...


Mekk2 Mediates Aberrant Erk Activation In Neurofibromatosis Type I, Seoyeon Bok, Dong Yeon Shin, Alisha R. Yallowitz, Mark Eiseman, Michelle Cung, Ren Xu, Na Li, Jun Sun, Alfred L. Williams, John E. Scott, Bing Su, Jae-Hyuck Shim, Matthew B. Greenblatt 2020 Weill Cornell Medicine

Mekk2 Mediates Aberrant Erk Activation In Neurofibromatosis Type I, Seoyeon Bok, Dong Yeon Shin, Alisha R. Yallowitz, Mark Eiseman, Michelle Cung, Ren Xu, Na Li, Jun Sun, Alfred L. Williams, John E. Scott, Bing Su, Jae-Hyuck Shim, Matthew B. Greenblatt

Open Access Publications by UMMS Authors

Neurofibromatosis type I (NF1) is characterized by prominent skeletal manifestations caused by NF1 loss. While inhibitors of the ERK activating kinases MEK1/2 are promising as a means to treat NF1, the broad blockade of the ERK pathway produced by this strategy is potentially associated with therapy limiting toxicities. Here, we have sought targets offering a more narrow inhibition of ERK activation downstream of NF1 loss in the skeleton, finding that MEKK2 is a novel component of a noncanonical ERK pathway in osteoblasts that mediates aberrant ERK activation after NF1 loss. Accordingly, despite mice with conditional deletion of Nf1 in ...


Managing May-Thurner Syndrome And Associated Complications Throughout Pregnancy And Postpartum, Jessica A. Young, Stephen Zweibach, Nicole L. Plenty, Tiffany Tonismae 2020 HCA Healthcare

Managing May-Thurner Syndrome And Associated Complications Throughout Pregnancy And Postpartum, Jessica A. Young, Stephen Zweibach, Nicole L. Plenty, Tiffany Tonismae

OB-GYN

No abstract provided.


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