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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

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604 full-text articles. Page 5 of 26.

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 Publications by UMMS Authors

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 ...


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 Publications by UMMS Authors

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 ...


Prophylaxis Of Food Allergen Sensitivity, Dustin Gottfeld 2020 Dominican University of California

Prophylaxis Of Food Allergen Sensitivity, Dustin Gottfeld

Physician Assistant Studies | Student Articles

Food allergies can have a severe and drastic effect on a person’s lifestyle, while prevention of allergic disease can help to ensure others do not have to live with this burden. There are a variety of differing hypotheses that offer explanations for the early development of food allergies, particularly peanut allergies. Two of the foremost hypotheses are the Hygiene Hypothesis and the Dual-Allergen Hypothesis. The Hygiene Hypothesis claims that the diversity of a child’s microbiota creates a beneficial balance of microorganisms which can help prevent the development of allergic disease. Alternatively, the Dual-Allergen Hypothesis states that early environmental ...


Don't Just Check The Box: Check Your Athlete's Heart: Adding A 12-Lead Ecg To Pre-Participation Screening To Identify High Risk Of Sudden Cardiac Arrest In Male High School Athletes, Shannon King 2020 University of Kentucky

Don't Just Check The Box: Check Your Athlete's Heart: Adding A 12-Lead Ecg To Pre-Participation Screening To Identify High Risk Of Sudden Cardiac Arrest In Male High School Athletes, Shannon King

DNP Projects

PURPOSE: Sudden cardiac arrest (SCA) continues to be the leading cause of death in male high school athletes participating in competitive sports. There is gap in the current preventative screening practice of history and physical alone. The purpose of this project is to evaluate adding a 12-lead electrocardiogram (ECG) to pre-participation screening captures cardiac abnormalities that identify male athletes at a higher risk for developing SCA. METHODS: A descriptive secondary analysis design to determine the incidence of cardiac abnormalities detected with the addition of a 12-lead ECG during pre-participation screenings (annual sports physical) of high school-aged male athletes. The study ...


Involvement Of The Renin Angiotensin System In Marfan Syndrome Associated Thoracic Aortic Aneurysms, Jeff Zheying Chen 2020 University of Kentucky

Involvement Of The Renin Angiotensin System In Marfan Syndrome Associated Thoracic Aortic Aneurysms, Jeff Zheying Chen

Theses and Dissertations--Physiology

Thoracic aortic aneurysms (TAAs) are clinically-silent dilations of the aorta which greatly increase the risk of aortic rupture, a condition with 50-90% mortality. Marfan syndrome (MFS) is caused by mutations in fibrillin-1 (FBN1) and is associated with TAAs. Due to an absence of validated and effective pharmacologic therapies to prevent or reverse TAA, most MFS patients require surgical aortic repair. Understanding MFS associated TAA pathogenesis would direct development of new pharmacologic therapies. Previous research has implicated the renin angiotensin system in TAA. In both males and females, angiotensinogen (AGT) is cleaved serially to generate the main effector peptide angiotensin II ...


Effects Of Gestational Ozone Exposure On Privileged Placental And Brain Barrier Integrity, Alexander I. Hamm 2020 Virginia Commonwealth University

Effects Of Gestational Ozone Exposure On Privileged Placental And Brain Barrier Integrity, Alexander I. Hamm

Theses and Dissertations

Ambient outdoor ozone, a common of component of photochemical smog and urban air pollution, is linked to various neurological and vascular pathologies. Its immediate reaction with lung surfactant after inhalation results in complete reactivity of the gas, with no active ozone passing into circulation. This indicates the presence of secondary and tertiary mediators in ozone-related systemic pathologies after pulmonary insult. In vasculature, ozone exposure is associated with an acute hypertensive phenotype apparent at least 24 hours after dose, such as experienced on a hot summer afternoon in a large metropolitan area like Los Angeles or Mexico City. However, the effects ...


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 ...


Gastroschisis, Rebecca M. Rentea, Vikas Gupta 2020 Children's Mercy Hospital

Gastroschisis, Rebecca M. Rentea, Vikas Gupta

Manuscripts, Articles, Book Chapters and Other Papers

Gastroschisis is a paraumbilical, full-thickness abdominal wall defect associated with protrusion of the bowel through the defect. It is rarely associated with genetic conditions. A membrane does not cover the bowel exposed in utero and, as a result, may be matted, dilated, and covered with a fibrinous inflammatory rind. Infants have a high proportion of intrauterine growth restriction. Diagnosis is often made on the 20-week ultrasound with free-floating bowel loops in the uterine cavity. Maternal serum alpha-fetoprotein (AFP) is elevated in pregnancies with gastroschisis. Compared with other abdominal wall defects diagnosed prenatally such as omphalocele, only 10 percent of cases ...


Patent Urachus, Kayla B. Briggs, Rebecca M. Rentea 2020 Children's Mercy Hospital

Patent Urachus, Kayla B. Briggs, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

atent urachus refers to one condition in a rare spectrum of disorders referred to as urachal anomalies. These conditions result from the failure of the involution of normal embryologic tissues that serve to empty the fetal bladder. The location and amount of persistent tissue dictate the presenting symptoms. Some of these urachal anomalies are obvious at birth, while others are more subtle and not diagnosed until adulthood or only incidentally discovered after imaging is obtained for other reasons. Historically, surgical resection of urachal anomalies was routinely undertaken, given the potential for malignancy in retained ectopic tissue. Early surgical resection has ...


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 ...


Morgagni Hernia, Wendy Jo Svetanoff, Rebecca M. Rentea 2020 Children's Mercy Hospital

Morgagni Hernia, Wendy Jo Svetanoff, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

A Morgagni hernia is one of four types of diaphragmatic hernias; the other types include a Bochdalek hernia, where the defect is posterolateral, a hiatal hernia, where the defect is at the esophageal hiatus, and a paraesophageal hernia, where the defect is located adjacent to the esophageal hiatus. The Morgagni hernia, in which the defect is found in an anterior and retrosternal location, was first described by Morgagni in 1769. It is rarer than the other type of congenital diaphragmatic hernia (Bochdalek hernia) and comprises only 2% to 5% of all congenital diaphragmatic hernias. Morgagni hernias tend to be less ...


Ileal Atresia, Obiyo O. Osuchukwu, Rebecca M. Rentea 2020 Children's Mercy Hospital

Ileal Atresia, Obiyo O. Osuchukwu, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Ileal and jejunal atresias are usually described together as jejunoileal atresia (JIA). JIA is a common cause of intestinal obstruction in neonates. It is seen in 1 in 5000 to 1 in 14000 live births. Intestinal atresia can occur in any location on the small bowel as a solitary or even multiple lesions. Distally located atresia usually presents with delayed symptoms compared to proximal ones. Occasionally, JIA is associated with other malformations such as cardiac anomalies, gastroschisis, and cystic fibrosis. Evaluation can be initiated before birth with prenatal diagnosis using ultrasound findings of evidence of intestinal obstruction reported in 29 ...


Mutations In The Copii Vesicle Genes And The Diseases They Lead To, Cassandra Concannon 2020 Iowa State University

Mutations In The Copii Vesicle Genes And The Diseases They Lead To, Cassandra Concannon

Creative Components

Protein secretion is essential for cell viability. A large variety of secretory and membrane proteins are secreted through the secretory pathway. Studies have revealed how these proteins are secreted by analyzing the components of the secretory pathway. The coat protein complex II (COPII)-coated vesicles are responsible for generating vesicles at the endoplasmic reticulum. During the COPII vesicle assembly the COPII proteins package cargo molecules to nascent vesicles. COPII vesicles then fuse with ER/Golgi intermediate compartment in mammalian cells or the Golgi apparatus in yeast. The COPII proteins consist of Sar1, Sec23/Sec24 complex, and Sec13/Sec31 complex. There ...


Genetic Aspects Of Pulmonary Fibrosis, Katie Hadsall 2020 Iowa State University

Genetic Aspects Of Pulmonary Fibrosis, Katie Hadsall

Creative Components

Pulmonary fibrosis is broad term for a group of lung diseases, idiopathic or familial, that results in fibroblasts and excess tissue in the lungs. Because it is a generally seen in multiple generations of families, it is referred to as familial pulmonary fibrosis. The genetic aspects underlying the disease is unclear; however, there are a plethora of proposed genetic mechanisms that have been studied. The most commonly proposed genetic mechanisms, involving telomere shortening and surfactant overproduction, will be discussed in this review.


Pentalogy Of Cantrell, Muhammad Khawar Sana, Rebecca M. Rentea 2020 Children's Mercy Hospital

Pentalogy Of Cantrell, Muhammad Khawar Sana, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Pentalogy of Cantrell (POC) is a collection of five congenital midline birth anomalies that present a distinctive challenge for clinicians and surgeons. Those five defects are of the heart, pericardium, diaphragm, sternum, and abdominal wall. This condition has been divided into two categories, complete or partial. Complete, as the name indicates, refers to the presence of all five defects, while others may present with only partial defects. It is also referred to as thoracoabdominal ectopia cordis, a condition where the heart is covered by an omphalocele-like membrane. Ectopia cordis (EC) is often found in fetuses with POC. Infants usually have ...


Electrical Impedance Myography For Reducing Sample Size In Duchenne Muscular Dystrophy Trials, Melanie L. Leitner, Kush Kapur, Basil T. Darras, Michele Yang, Brenda Wong, Laura Dalle Pazze, Julaine Florence, Martin Buck, Laura Freedman, Jose Bohorquez, Seward Rutkove, Craig Zaidman 2019 Accelerating NeuroVentures, LLC

Electrical Impedance Myography For Reducing Sample Size In Duchenne Muscular Dystrophy Trials, Melanie L. Leitner, Kush Kapur, Basil T. Darras, Michele Yang, Brenda Wong, Laura Dalle Pazze, Julaine Florence, Martin Buck, Laura Freedman, Jose Bohorquez, Seward Rutkove, Craig Zaidman

Open Access Publications by UMMS Authors

OBJECTIVE: To evaluate the sensitivity of electrical impedance myography (EIM) to disease progression in both ambulatory and non-ambulatory boys with DMD.

METHODS AND PARTICIPANTS: A non-blinded, longitudinal cohort study of 29 ambulatory and 15 non-ambulatory boys with DMD and age-similar healthy boys. Subjects were followed for up to 1 year and assessed using the Myolex((R)) mView(TM) EIM system as part of a multicenter study.

RESULTS: In the ambulatory group, EIM 100 kHz resistance values showed significant change compared to the healthy boys. For example, in lower extremity muscles, the average change in EIM 100 kHz resistance values over ...


Anticipation, Accompaniment, And A Good Death In Perinatal Care., Bryanna S. Moore, Brian S. Carter, Bryan Beaven, Katie House, Joel House 2019 Children's Mercy Hospital

Anticipation, Accompaniment, And A Good Death In Perinatal Care., Bryanna S. Moore, Brian S. Carter, Bryan Beaven, Katie House, Joel House

Manuscripts, Articles, Book Chapters and Other Papers

The ethics of perinatal care, and the experiences of families who receive such care, remains a nascent area of inquiry. It can be hard to see how existing "good death" constructs apply to the experiences of fetal patients and their families. In this paper, we explore two themes raised by a case at our fetal health center: anticipation and accompaniment. In this case, a mother presented to our fetal health center; her unborn son, our fetal patient, was diagnosed with life-threatening hypoplastic left heart syndrome and endocardial fibroelastosis. The parents were told that their son's life expectancy, upon birth ...


Identification Of The Hyaluronic Acid Pathway As A Therapeutic Target For Facioscapulohumeral Muscular Dystrophy, Alec M. DeSimone, John D. Leszyk, Kathryn Wagner, Charles P. Emerson, Jr. 2019 University of Massachusetts Medical School

Identification Of The Hyaluronic Acid Pathway As A Therapeutic Target For Facioscapulohumeral Muscular Dystrophy, Alec M. Desimone, John D. Leszyk, Kathryn Wagner, Charles P. Emerson, Jr.

Open Access Publications by UMMS Authors

Facioscapulohumeral muscular dystrophy (FSHD) is linked to epigenetic derepression of the germline/embryonic transcription factor DUX4 in skeletal muscle. However, the etiology of muscle pathology is not fully understood, as DUX4 misexpression is not tightly correlated with disease severity. Using a DUX4-inducible cell model, we show that multiple DUX4-induced molecular pathologies that have been observed in patient-derived disease models are mediated by the signaling molecule hyaluronic acid (HA), which accumulates following DUX4 induction. These pathologies include formation of RNA granules, FUS aggregation, DNA damage, caspase activation, and cell death. We also observe previously unidentified pathologies including mislocalization of mitochondria and ...


Curing Hemophilia A By Nhej-Mediated Ectopic F8 Insertion In The Mouse, Jian-Ping Zhang, Xin-Xin Cheng, Mei Zhao, Guo-Hua Li, Jing Xu, Feng Zhang, Meng-Di Yin, Fei-Ying Meng, Xin-Yue Dai, Ya-Wen Fu, Zhi-Xue Yang, Cameron Arakaki, Ruijun Jeanna. Su, Wei Wen, Wen-Tian Wang, Wanqiu Chen, Hannah Choi, Charles Wang, Guangping Gao, Lei Zhang, Tao Cheng, Xiao-Bing Zhang 2019 Peking Union Medical College

Curing Hemophilia A By Nhej-Mediated Ectopic F8 Insertion In The Mouse, Jian-Ping Zhang, Xin-Xin Cheng, Mei Zhao, Guo-Hua Li, Jing Xu, Feng Zhang, Meng-Di Yin, Fei-Ying Meng, Xin-Yue Dai, Ya-Wen Fu, Zhi-Xue Yang, Cameron Arakaki, Ruijun Jeanna. Su, Wei Wen, Wen-Tian Wang, Wanqiu Chen, Hannah Choi, Charles Wang, Guangping Gao, Lei Zhang, Tao Cheng, Xiao-Bing Zhang

Open Access Publications by UMMS Authors

BACKGROUND: Hemophilia A, a bleeding disorder resulting from F8 mutations, can only be cured by gene therapy. A promising strategy is CRISPR-Cas9-mediated precise insertion of F8 in hepatocytes at highly expressed gene loci, such as albumin (Alb). Unfortunately, the precise in vivo integration efficiency of a long insert is very low (~ 0.1%).

RESULTS: We report that the use of a double-cut donor leads to a 10- to 20-fold increase in liver editing efficiency, thereby completely reconstituting serum F8 activity in a mouse model of hemophilia A after hydrodynamic injection of Cas9-sgAlb and B domain-deleted (BDD) F8 donor plasmids. We ...


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