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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

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516 Full-Text Articles 2,344 Authors 55,951 Downloads 84 Institutions

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

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516 full-text articles. Page 1 of 22.

Similac Special Care And Elecare Cause Neonatal Gut Injury In Mice, Karishma Rao, Heather L. Menden, Wei Yu, Inamul Haque, Susana Chavez-Bueno, Alain C. Cuna, Shahid Umar, Venkatesh Sampath 2020 CMH

Similac Special Care And Elecare Cause Neonatal Gut Injury In Mice, Karishma Rao, Heather L. Menden, Wei Yu, Inamul Haque, Susana Chavez-Bueno, Alain C. Cuna, Shahid Umar, Venkatesh Sampath

Research Days

No abstract provided.


Clinical Validation And Diagnostic Rate/Outcomes Of A Dual Molecular Diagnostic Assay For Myotonic Dystrophy 1., Maxime Cadieux-Dion, Isabelle Thiffault, Midhat S. Farooqi, Joseph Alaimo 2020 Children's Mercy Hospital

Clinical Validation And Diagnostic Rate/Outcomes Of A Dual Molecular Diagnostic Assay For Myotonic Dystrophy 1., Maxime Cadieux-Dion, Isabelle Thiffault, Midhat S. Farooqi, Joseph Alaimo

Research Days

No abstract provided.


Two Cases Of Severe Combined Immunodeficiency Disease With No Known Variants Identified In Genes Associated With Immunodeficiencies, Megan H. Tucker 2020 Children's Mercy Kansas City

Two Cases Of Severe Combined Immunodeficiency Disease With No Known Variants Identified In Genes Associated With Immunodeficiencies, Megan H. Tucker

Research Days

No abstract provided.


Complications And Management In Pediatric Heart Surgery, Hannah Berndt 2020 University of Arkansas, Fayetteville

Complications And Management In Pediatric Heart Surgery, Hannah Berndt

The Eleanor Mann School of Nursing Undergraduate Honors Theses

The purpose of this literature review is to evaluate current research surrounding management of pediatric patients after cardiac surgery. Acute kidney injury (AKI) and neurodevelopmental deficits are the main discussion topics. This review analyzes the causes, risk factors, and effects of AKI. The diagnostic and management methods surrounding AKI are compared, and diagnostic approaches such as serum Cystatin C and fibroblast growth factor 23 are analyzed as potential future replacements to serum creatinine. The modality of renal replacement therapy is evaluated, and early initiation of peritoneal dialysis is preferred. This review discusses the most common causes, effects, and management of ...


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 Articles

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.


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 Articles

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 ...


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 Articles

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 ...


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.


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.


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 Articles

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 Articles

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 ...


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 Articles

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 ...


Loss Of Huntingtin Function Slows Synaptic Vesicle Endocytosis In Striatal Neurons From The Htt(Q140/Q140) Mouse Model Of Huntington's Disease, Robyn L. McAdam, Andrew Morton, Sarah L. Gordon, Julia F. Alterman, Anastasia Khvorova, Michael A. Cousin, Karen J. Smillie 2020 University of Edinburgh

Loss Of Huntingtin Function Slows Synaptic Vesicle Endocytosis In Striatal Neurons From The Htt(Q140/Q140) Mouse Model Of Huntington's Disease, Robyn L. Mcadam, Andrew Morton, Sarah L. Gordon, Julia F. Alterman, Anastasia Khvorova, Michael A. Cousin, Karen J. Smillie

Open Access Articles

Huntington's disease (HD) is caused by CAG repeat expansion within the HTT gene, with the dysfunction and eventual loss of striatal medium spiny neurons a notable feature. Since medium spiny neurons receive high amounts of synaptic input, we hypothesised that this vulnerability originates from an inability to sustain presynaptic performance during intense neuronal activity. To test this hypothesis, primary cultures of either hippocampal or striatal neurons were prepared from either wild-type mice or a knock-in HD mouse model which contains 140 poly-glutamine repeats in the huntingtin protein (htt(Q140/Q140)). We identified a striatum-specific defect in synaptic vesicle (SV ...


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 Articles

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 ...


A Five Chambered Heart, George Hanna, Javad Savoj, Syed Iftikhar, Scott Kubomoto, Patrick Hu 2020 HCA Healthcare

A Five Chambered Heart, George Hanna, Javad Savoj, Syed Iftikhar, Scott Kubomoto, Patrick Hu

Internal Medicine

No abstract provided.


Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency (Maple Syrup Urine Disease): Treatment, Biomarkers, And Outcomes, Kevin A. Strauss 2020 University of Massachusetts Medical School

Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency (Maple Syrup Urine Disease): Treatment, Biomarkers, And Outcomes, Kevin A. Strauss

Open Access Articles

Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD) phenotype. We collected data about treatment, survival, hospitalization, metabolic control, and liver transplantation from patients with classic (i.e., severe; n = 176), intermediate (n = 6) and intermittent (n = 2) forms of MSUD. A total of 13,589 amino acid profiles were used to analyze leucine tolerance, amino acid homeostasis, estimated cerebral amino acid uptake, quantitative responses to anabolic therapy, and metabolic control after liver transplantation. Standard ...


Comparing Open And Fetoscopic Fetal Surgical Repairs Of Myelomeningocele, Kyra Isaacs 2020 Arcadia University

Comparing Open And Fetoscopic Fetal Surgical Repairs Of Myelomeningocele, Kyra Isaacs

Capstone Showcase

Introduction: There have been great advances in the treatment of myelomeningocele (MMC) spina bifida in the past 20 years. An open surgical repair in-utero has been shown to reduce mortality and morbidity, specifically decreasing the rate of shunt placement and hindbrain herniation compared to a postnatal surgical approach. However, this surgery introduced risks to the mother that were never a consideration in previous surgical approaches.

Methods: This paper compares research on new minimally invasive fetoscopic surgical techniques to open fetal surgery in the prenatal repair of MMC. Searches in PubMed and Clinical Key were conducted to produce papers published on ...


Hypomorphic Si Genetic Variants Are Associated With Childhood Chronic Loose Stools., Bruno P Chumpitazi, Jeffery Lewis, Derick Cooper, Mauro D'Amato, Joel Lim, Sandeep Gupta, Adrian Miranda, Natalie Terry, Devendra Mehta, Ann Scheimann, Molly O'Gorman, Neelesh Tipnis, Yinka Davies, Joel Friedlander, Heather Smith, Jaya Punati, Julie Khlevner, Mala Setty, Carlo Di Lorenzo 2020 Children's Mercy Hospital

Hypomorphic Si Genetic Variants Are Associated With Childhood Chronic Loose Stools., Bruno P Chumpitazi, Jeffery Lewis, Derick Cooper, Mauro D'Amato, Joel Lim, Sandeep Gupta, Adrian Miranda, Natalie Terry, Devendra Mehta, Ann Scheimann, Molly O'Gorman, Neelesh Tipnis, Yinka Davies, Joel Friedlander, Heather Smith, Jaya Punati, Julie Khlevner, Mala Setty, Carlo Di Lorenzo

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: The SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopathic loose stools, we assessed the prevalence of CSID-associated SI variants relative to the general population and the relative GI symptom burden associated with SI genotype within the study population.

METHODS: A prospective study conducted at 18 centers enrolled 308 non-Hispanic white children ≤18 years old who were experiencing chronic, idiopathic, loose stools at least once per week for >4 weeks. Data on demographics, GI ...


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