Open Access. Powered by Scholars. Published by Universities.®

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

Open Access. Powered by Scholars. Published by Universities.®

604 Full-Text Articles 2,727 Authors 104,348 Downloads 93 Institutions

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

Faceted Search

604 full-text articles. Page 4 of 26.

Segmental Neurofibromatosis: Isolated Eruption Of Neurofibromas On The Scapula In A Middle-Aged Man, Christopher White, Brett Brazen, Richard Miller 2020 HCA Healthcare

Segmental Neurofibromatosis: Isolated Eruption Of Neurofibromas On The Scapula In A Middle-Aged Man, Christopher White, Brett Brazen, Richard Miller

West Florida Division Virtual Research Day

No abstract provided.


Phenotypic Variability Among Patients With D4z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy, Lucia Ruggiero, Rossella Tupler 2020 University Federico II

Phenotypic Variability Among Patients With D4z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy, Lucia Ruggiero, Rossella Tupler

Open Access Publications by UMMS Authors

Importance: Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disorder, associated with the deletion of tandemly arrayed D4Z4 repetitive elements. The extensive use of molecular analysis of the D4Z4 locus for FSHD diagnosis has revealed wide clinical variability, suggesting that subgroups of patients exist among carriers of the D4Z4 reduced allele (DRA).

Objective: To investigate the clinical expression of FSHD in the genetic subgroup of carriers of a DRA with 7 to 8 repeat units (RUs).

Design, Setting, and Participants: This multicenter cross-sectional study included 422 carriers of DRA with 7 to 8 RUs (187 unrelated probands and 235 ...


A Replication And Extension Of A Prediction Tool Identifying Need For Treatment Among Opioid Exposed Infants, Loni Parrish 2020 East Tennessee State University

A Replication And Extension Of A Prediction Tool Identifying Need For Treatment Among Opioid Exposed Infants, Loni Parrish

Electronic Theses and Dissertations

The incidences of maternal opioid use and neonatal opioid withdrawal syndrome (NOWS) have increased by nearly 400% over the past decade. Isemann and colleagues (2017) developed prediction tools (TiTE/TiTE2) to differentiate, within the first two days of life, between infants who will require pharmacotherapy for NOWS from those infants who will not require pharmacotherapy for NOWS. The goal of the current experiment was to replicate and extend their prediction model. The present experiments successfully replicated Isemann et al., (2017) results and also established alternative cutoff values for requiring treatment that provide better balance between all four metrics. Moreover ...


Factors That Impact Uptake Of Carrier Screening By Male Reproductive Partners Of Female Prenatal Patients, Wendi Betting 2020 The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences

Factors That Impact Uptake Of Carrier Screening By Male Reproductive Partners Of Female Prenatal Patients, Wendi Betting

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)

Carrier screening is a genomic technology that is used to identify individuals who are carriers of autosomal recessive conditions. Despite published recommendations, the majority of male partners do not complete carrier screening after their female partner is identified to be a carrier. Previous studieshave examined reasons why women elect or decline carrier screening, but there have been few published studies that examine factors that influence a male partner’s decision to elect or decline carrier screening, particularly when the female has been identified as a carrier. The aim of the study was to determine the factors that influence the uptake ...


Global Fkrp Registry: Observations In More Than 300 Patients With Limb Girdle Muscular Dystrophy R9, Lindsay B. Murphy, John Herbert Stevenson, Volker Straub 2020 Newcastle University

Global Fkrp Registry: Observations In More Than 300 Patients With Limb Girdle Muscular Dystrophy R9, Lindsay B. Murphy, John Herbert Stevenson, Volker Straub

Open Access Publications by UMMS Authors

OBJECTIVE: The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin-Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital muscular dystrophies MDC1C, Muscle-Eye-Brain Disease and Walker-Warburg Syndrome. The registry seeks to further understand the natural history and prevalence of FKRP-related conditions; aid the rapid identification of eligible patients for clinical studies; and provide a source of information to clinical and academic communities.

METHODS: Registration is patient-initiated through a secure online portal. Data, reported by both patients and their clinicians, include: age of onset, presenting symptoms, family history, motor ...


Challenges Of Pediatric Disease In Adulthood, Dennis J. Baumgardner, Brian Chicoine 2020 Aurora UW Medical Group, Aurora Health Care

Challenges Of Pediatric Disease In Adulthood, Dennis J. Baumgardner, Brian Chicoine

Journal of Patient-Centered Research and Reviews

Some chronic diseases — such as the rare bone disease X-linked hypophosphatemia, the impetus for a study reported within Volume 7, Issue 2 of the Journal of Patient-Centered Research and Reviews — are diagnosed in childhood but become more symptomatic in adulthood. In this editorial, the challenges, pitfalls, and opportunities regarding the care of adults with childhood-onset chronic diseases are examined using Down syndrome, cystic fibrosis, congenital heart disease, and Hirschsprung disease as examples.


The Care Of Patients With Duchenne, Becker And Other Muscular Dystrophies In The Covid-19 Pandemic, Aravindhan Veerapandiyan, Kathryn R. Wagner, Susan Apkon, Craig M. McDonald, Katherine D. Mathews, Julie A. Parsons, Brenda L. Wong, Katy Eichinger, Perry B. Shieh, Russell J. Butterfield, Vamshi K. Rao, Edward C. Smith, Crystal M. Proud, Anne M. Connolly, Emma Ciafaloni 2020 University of Arkansas for Medical Sciences

The Care Of Patients With Duchenne, Becker And Other Muscular Dystrophies In The Covid-19 Pandemic, Aravindhan Veerapandiyan, Kathryn R. Wagner, Susan Apkon, Craig M. Mcdonald, Katherine D. Mathews, Julie A. Parsons, Brenda L. Wong, Katy Eichinger, Perry B. Shieh, Russell J. Butterfield, Vamshi K. Rao, Edward C. Smith, Crystal M. Proud, Anne M. Connolly, Emma Ciafaloni

COVID-19 Publications by UMMS Authors

The corona virus disease 2019 (COVID-19) pandemic has resulted in the reorganization of healthcare settings affecting clinical care delivery to patients with Duchenne and Becker muscular dystrophy (DBMD) as well as other inherited muscular dystrophies. The magnitude of the impact of this public health emergency on the care of patients with DBMD is unclear as they are suspected of having an increased risk for severe manifestations of COVID-19. In this paper, the authors discuss their consensus recommendations pertaining to care of these patients during the pandemic. We address issues surrounding corticosteroid and exon skipping treatments, cardiac medications, hydroxychloroquine use, emergency ...


Whole Genome Sequencing For Mutation Discovery In A Single Case Of Lysosomal Storage Disease (Mps Type 1) In The Dog, Tamer A. Mansour, Kevin D. Woolard, Karen L. Vernau, Devin M. Ancona, Sara M. Thomasy, Lionel Sebbag, Bret A. Moore, Marguerite F. Knipe, Haitham A. Seada, Tina M. Cowan, Miriam Aguilar, C. Titus Brown, Danika L. Bannasch 2020 University of California, Davis and Mansoura University

Whole Genome Sequencing For Mutation Discovery In A Single Case Of Lysosomal Storage Disease (Mps Type 1) In The Dog, Tamer A. Mansour, Kevin D. Woolard, Karen L. Vernau, Devin M. Ancona, Sara M. Thomasy, Lionel Sebbag, Bret A. Moore, Marguerite F. Knipe, Haitham A. Seada, Tina M. Cowan, Miriam Aguilar, C. Titus Brown, Danika L. Bannasch

Veterinary Clinical Sciences Publications

Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans. A 15-month-old Boston Terrier presented with clinical signs consistent with lysosomal storage disease including corneal opacities, multifocal central nervous system disease and progressively worsening clinical course. Diagnosis was confirmed at necropsy based on histopathologic evaluation of multiple organs demonstrating accumulation of mucopolysaccharides. Whole genome sequencing was used to uncover a frame-shift insertion affecting the alpha-L-iduronidase (IDUA) gene (c.19_20insCGGCCCCC), a mutation confirmed in another Boston Terrier presented 2 years later with a similar clinical picture. Both dogs were homozygous ...


Interpretation Of The Epigenetic Signature Of Facioscapulohumeral Muscular Dystrophy In Light Of Genotype-Phenotype Studies, Ana Nikolic, Louise Maranda, Rossella Ginevra Tupler 2020 University of Modena and Reggio Emilia

Interpretation Of The Epigenetic Signature Of Facioscapulohumeral Muscular Dystrophy In Light Of Genotype-Phenotype Studies, Ana Nikolic, Louise Maranda, Rossella Ginevra Tupler

Open Access Publications by UMMS Authors

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recently, D4Z4 hypomethylation has been proposed as a reliable marker in the FSHD diagnosis. We exploited the Italian Registry for FSHD, in which FSHD families are classified using the Clinical Comprehensive Evaluation Form (CCEF). A total of 122 index cases showing a classical FSHD phenotype (CCEF, category A) and 110 relatives were selected to test with the receiver operating characteristic (ROC) curve, the diagnostic and predictive value of D4Z4 ...


The Role Of Alternative Mrna Splicing In Heart Development, Douglas Bittel, Nataliya Kibiryeva, Naoya Kenmochi, Prakash Patil, Tamayo Uechi, Brenda Rongish, Mike Filla, Jennifer A. Marshall, Michael Artman, Rajasingh Johnson, James E. O'Brien 2020 Children's Mercy Hospital

The Role Of Alternative Mrna Splicing In Heart Development, Douglas Bittel, Nataliya Kibiryeva, Naoya Kenmochi, Prakash Patil, Tamayo Uechi, Brenda Rongish, Mike Filla, Jennifer A. Marshall, Michael Artman, Rajasingh Johnson, James E. O'Brien

Manuscripts, Articles, Book Chapters and Other Papers

Research in the last 10 years has led to improved understanding of the genetic regulation of vertebrate heart development, but despite this effort, approximately 70% of all congenital heart defects (CHDs) still have an unknown etiology. Alternative splicing of mRNA has been documented to play roles in normal and abnormal development. Dysregulated splicing of mRNA has been shown to cause heart defects in mice, however a link between mRNA splicing and CHDs has not yet been shown in humans. We reported that more than 50% of genes associated with heart development were alternatively spliced in the right ventricle (RV) of ...


A Novel Case Of Bacterial Meningitis In A Patient With Loeys-Dietz, Lacey D. Colvin DO, Christy Fagg 2020 HCA Healthcare

A Novel Case Of Bacterial Meningitis In A Patient With Loeys-Dietz, Lacey D. Colvin Do, Christy Fagg

Infectious Disease

No abstract provided.


Does Dna Methylation Matter In Fshd, Valentina Salsi, Frederique Magdinier, Rossella Ginevra Tupler 2020 University of Modena and Reggio Emilia

Does Dna Methylation Matter In Fshd, Valentina Salsi, Frederique Magdinier, Rossella Ginevra Tupler

Open Access Publications by UMMS Authors

Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the genetic and epigenetic molecular features of the CpG-rich D4Z4 repeat tandem array at 4q35. Reduced DNA methylation of D4Z4 repeats is considered part of the FSHD mechanism and has been proposed as a reliable marker in the FSHD diagnostic procedure. We considered the assessment of D4Z4 DNA methylation status conducted on distinct cohorts using different methodologies. On the basis of the reported results we conclude that the percentage of DNA methylation detected at D4Z4 does not correlate with the disease status. Overall, data suggest that in the case of FSHD1, D4Z4 ...


Diagonal 1 And Mid-Lad Myocardial Bridge With Elevated Troponin Enzymes, Ronak Patel DO 2020 Lewis Gale Hospital Montomery

Diagonal 1 And Mid-Lad Myocardial Bridge With Elevated Troponin Enzymes, Ronak Patel Do

Cardiology

No abstract provided.


Ubiquitous Neurocognitive Dysfunction In Familial Adenomatous Polyposis: Proof-Of-Concept Of The Role Of Apc Protein In Neurocognitive Function, Marcia Roxana Cruz-Correa, Ana Cecilia Sala, Beatriz Cintron, Jessica Hernandez, Myrta Olivera, Adrian Cora, Constance M. Moore, Carlos A. Luciano, Marievelisse Soto-Salgado, Francis M. Giardiello, Stephen R. Hooper 2020 University of Puerto Rico

Ubiquitous Neurocognitive Dysfunction In Familial Adenomatous Polyposis: Proof-Of-Concept Of The Role Of Apc Protein In Neurocognitive Function, Marcia Roxana Cruz-Correa, Ana Cecilia Sala, Beatriz Cintron, Jessica Hernandez, Myrta Olivera, Adrian Cora, Constance M. Moore, Carlos A. Luciano, Marievelisse Soto-Salgado, Francis M. Giardiello, Stephen R. Hooper

Open Access Publications by UMMS Authors

Background: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by germline mutations in the APC gene. Patients with FAP have multiple extraintestinal manifestations that follow a genotype-phenotype pattern; however, few data exist characterizing their cognitive abilities. Given the role of the APC protein in development of the central nervous system, we hypothesized that patients with FAP would show differences in cognitive functioning compared to controls.

Methods: Matched case-control study designed to evaluate cognitive function using the Test of Nonverbal Intelligence-4, the Bateria III Woodcock-Munoz, and the Behavior Rating Inventory of Executive Functions-Adult. Twenty-six individuals with FAP (mean age ...


Neonatal-Derived Il-17 Producing Dermal Gammadelta T Cells Are Required To Prevent Spontaneous Atopic Dermatitis, Nicholas A. Spidale, Nidhi Malhotra, Michela Frascoli, Katelyn E. Sylvia, Bing Miu, Coral Freeman, Brian D. Stadinski, Eric Huseby, Joonso Kang 2020 University of Massachusetts Medical School

Neonatal-Derived Il-17 Producing Dermal Gammadelta T Cells Are Required To Prevent Spontaneous Atopic Dermatitis, Nicholas A. Spidale, Nidhi Malhotra, Michela Frascoli, Katelyn E. Sylvia, Bing Miu, Coral Freeman, Brian D. Stadinski, Eric Huseby, Joonso Kang

Open Access Publications by UMMS Authors

Atopic Dermatitis (AD) is a T cell-mediated chronic skin disease and is associated with altered skin barrier integrity. Infants with mutations in genes involved in tissue barrier fitness are predisposed towards inflammatory diseases, but most do not develop or sustain the diseases, suggesting that there exist regulatory immune mechanisms to prevent aberrant inflammation. The absence of one single murine dermal cell type, the innate neonatal-derived IL-17 producing gammadelta T (Tgammadelta17) cells, from birth resulted in spontaneous, highly penetrant AD with many of the major hallmarks of human AD. In Tgammadelta17 cell-deficient mice, basal keratinocyte transcriptome was altered months in advance ...


Frequent Mutation Of Hypoxia-Related Genes In Persistent Pulmonary Hypertension Of The Newborn, Mingbang Wang, Deyi Zhuang, Mei Mei, Haiyan Ma, Zixiu Li, Fusheng He, Guoqiang Cheng, Guang Lin, Wenhao Zhou 2020 Children's Hospital of Fudan University

Frequent Mutation Of Hypoxia-Related Genes In Persistent Pulmonary Hypertension Of The Newborn, Mingbang Wang, Deyi Zhuang, Mei Mei, Haiyan Ma, Zixiu Li, Fusheng He, Guoqiang Cheng, Guang Lin, Wenhao Zhou

Open Access Publications by UMMS Authors

AIMS: Persistent pulmonary hypertension of the newborn (PPHN) is characterized by sustained high levels of pulmonary vascular resistance after birth with etiology unclear; Arterial blood oxygen saturation of Tibetan newborns at high latitudes is higher than that of Han newborns at low latitudes, suggesting that genetic adaptation may allow sufficient oxygen to confer Tibetan populations with resistance to pulmonary hypertension; We have previously identified genetic factors related to PPHN through candidate gene sequencing; In this study, we first performed whole exome sequencing in PPHN patients to screen for genetic-related factors.

METHODS AND RESULTS: In this two-phase genetic study, we first ...


Single Cell Transcriptomics Reveals Dysregulated Cellular And Molecular Networks In A Fragile X Syndrome Model [Preprint], Elisa Donnard, Huan Shu, Manuel Garber 2020 University of Massachusetts Medical School

Single Cell Transcriptomics Reveals Dysregulated Cellular And Molecular Networks In A Fragile X Syndrome Model [Preprint], Elisa Donnard, Huan Shu, Manuel Garber

University of Massachusetts Medical School Faculty Publications

Despite advances in understanding the pathophysiology of Fragile X syndrome (FXS), its molecular bases are still poorly understood. Whole brain tissue expression profiles have proved surprisingly uninformative. We applied single cell RNA sequencing to profile a FXS mouse model. We found that FXS results in a highly cell type specific effect and it is strongest among different neuronal types. We detected a downregulation of mRNAs bound by FMRP and this effect is prominent in neurons. Metabolic pathways including translation are significantly upregulated across all cell types with the notable exception of excitatory neurons. These effects point to a potential difference ...


Obesity In America, Caroline Mcgibbon 2020 Kutztown University

Obesity In America, Caroline Mcgibbon

English Department: Research for Change - Wicked Problems in Our World

No abstract provided.


Psychiatric Illness And Regression In Individuals With Phelan-Mcdermid Syndrome, Teresa M. Kohlenberg, M. Pilar Trelles, Brittany McLarney, Catalina Betancur, Audrey Thurm, Alexander Kolevzon 2020 University of Massachusetts Medical School

Psychiatric Illness And Regression In Individuals With Phelan-Mcdermid Syndrome, Teresa M. Kohlenberg, M. Pilar Trelles, Brittany Mclarney, Catalina Betancur, Audrey Thurm, Alexander Kolevzon

Open Access Publications by UMMS Authors

BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deletions or mutations affecting SHANK3, which codes for a critical scaffolding protein in excitatory synapses. SHANK3 variants are also known to be associated with an increased risk for regression, as well as for psychiatric disorders, including bipolar disorder and catatonia. This study aimed to further describe these phenomena in PMS and to explore any relationship between psychiatric illness and regression after early childhood.

METHODS: Thirty-eight people with PMS were recruited to this ...


Real-World Outcomes Of Long-Term Prednisone And Deflazacort Use In Patients With Duchenne Muscular Dystrophy: Experience At A Single, Large Care Center, Jessica R. Marden, Jonathan Freimark, Zhiwen Yao, James Signorovitch, Cuixia Tian, Brenda L. Wong 2020 Analysis Group, Inc.

Real-World Outcomes Of Long-Term Prednisone And Deflazacort Use In Patients With Duchenne Muscular Dystrophy: Experience At A Single, Large Care Center, Jessica R. Marden, Jonathan Freimark, Zhiwen Yao, James Signorovitch, Cuixia Tian, Brenda L. Wong

Open Access Publications by UMMS Authors

Aim: To assess outcomes among patients with Duchenne muscular dystrophy receiving deflazacort or prednisone in real-world practice.

Methods: Clinical data for 435 boys with Duchenne muscular dystrophy from Cincinnati Children's Hospital Medical Center were studied retrospectively using time-to-event and regression analyses.

Results: Median ages at loss of ambulation were 15.6 and 13.5 years among deflazacort- and prednisone-initiated patients, respectively. Deflazacort was also associated with a lower risk of scoliosis and better ambulatory function, greater % lean body mass, shorter stature and lower weight, after adjusting for age and steroid duration. No differences were observed in whole body bone ...


Digital Commons powered by bepress