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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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604 full-text articles. Page 6 of 26.

Long-Term Therapeutic Efficacy Of Intravenous Aav-Mediated Hamartin Replacement In Mouse Model Of Tuberous Sclerosis Type 1, Shilpa Prabhakar, Pike See Cheah, Xuan Zhang, Max Zinter, Maria Gianatasio, Eloise Hudry, Roderick T. Bronson, David J. Kwiatkowski, Anat Stemmer-Rachamimov, Casey A. Maguire, Miguel Sena-Esteves, Bakhos A. Tannous, Xandra O. Breakefield 2019 Harvard Medical School

Long-Term Therapeutic Efficacy Of Intravenous Aav-Mediated Hamartin Replacement In Mouse Model Of Tuberous Sclerosis Type 1, Shilpa Prabhakar, Pike See Cheah, Xuan Zhang, Max Zinter, Maria Gianatasio, Eloise Hudry, Roderick T. Bronson, David J. Kwiatkowski, Anat Stemmer-Rachamimov, Casey A. Maguire, Miguel Sena-Esteves, Bakhos A. Tannous, Xandra O. Breakefield

Open Access Publications by UMMS Authors

Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, respectively. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth and proliferation. Loss of either protein leads to overgrowth in many organs, including subependymal nodules, subependymal giant cell astrocytomas, and cortical tubers in the human brain. Neurological manifestations in TSC include intellectual disability, autism, hydrocephalus, and epilepsy. In a stochastic mouse model of TSC1 brain lesions, complete loss of Tsc1 is achieved in homozygous Tsc1-floxed mice in a subpopulation of neural cells in ...


Suppressing Aneuploidy-Associated Phenotypes Improves The Fitness Of Trisomy 21 Cells, Sunyoung Hwang, Jessica F. Williams, Maja Kneissig, Maria Lioudyno, Isabel Rivera, Pablo Helguera, Jorge Busciglio, Zuzana Storchova, Megan C. King, Eduardo M. Torres 2019 University of Massachusetts Medical School

Suppressing Aneuploidy-Associated Phenotypes Improves The Fitness Of Trisomy 21 Cells, Sunyoung Hwang, Jessica F. Williams, Maja Kneissig, Maria Lioudyno, Isabel Rivera, Pablo Helguera, Jorge Busciglio, Zuzana Storchova, Megan C. King, Eduardo M. Torres

Open Access Publications by UMMS Authors

An abnormal number of chromosomes, or aneuploidy, accounts for most spontaneous abortions, causes developmental defects, and is associated with aging and cancer. The molecular mechanisms by which aneuploidy disrupts cellular function remain largely unknown. Here, we show that aneuploidy disrupts the morphology of the nucleus. Mutations that increase the levels of long-chain bases suppress nuclear abnormalities of aneuploid yeast independent of karyotype identity. Quantitative lipidomics indicates that long-chain bases are integral components of the nuclear membrane in yeast. Cells isolated from patients with Down syndrome also show that abnormal nuclear morphologies and increases in long-chain bases not only suppress these ...


Genome Editing Of Hbg1 And Hbg2 To Induce Fetal Hemoglobin, Jean-Yves Metais, Kevin Luk, Scot A. Wolfe, Shengdar Q. Tsai, Mitchell J. Weiss 2019 St. Jude Children's Research Hospital

Genome Editing Of Hbg1 And Hbg2 To Induce Fetal Hemoglobin, Jean-Yves Metais, Kevin Luk, Scot A. Wolfe, Shengdar Q. Tsai, Mitchell J. Weiss

Open Access Publications by UMMS Authors

Induction of fetal hemoglobin (HbF) via clustered regularly interspaced short palindromic repeats/Cas9-mediated disruption of DNA regulatory elements that repress gamma-globin gene (HBG1 and HBG2) expression is a promising therapeutic strategy for sickle cell disease (SCD) and beta-thalassemia, although the optimal technical approaches and limiting toxicities are not yet fully defined. We disrupted an HBG1/HBG2 gene promoter motif that is bound by the transcriptional repressor BCL11A. Electroporation of Cas9 single guide RNA ribonucleoprotein complex into normal and SCD donor CD34+ hematopoietic stem and progenitor cells resulted in high frequencies of on-target mutations and the induction of HbF to potentially ...


A Cohesin Subunit Variant Identified From A Peripheral Sclerocornea Pedigree, Bi Ning Zhang, Tommy Chung Yan Chan, Pancy Oi Sin Tam, Yu Liu, Chi Pui Pang, Vishal Jhanji, Li Jia Chen, Wai Kit Chu 2019 The Chinese University of Hong Kong

A Cohesin Subunit Variant Identified From A Peripheral Sclerocornea Pedigree, Bi Ning Zhang, Tommy Chung Yan Chan, Pancy Oi Sin Tam, Yu Liu, Chi Pui Pang, Vishal Jhanji, Li Jia Chen, Wai Kit Chu

Open Access Publications by UMMS Authors

Background: Sclerocornea is a rare congenital disorder characterized with the opacification of the cornea. Here, we report a nonconsanguineous Chinese family with multiple peripheral sclerocornea patients spanning across three generations inherited in an autosomal dominant manner.

Methods: This is a retrospective case series of a peripheral sclerocornea pedigree. Comprehensive ophthalmic examinations were conducted and assessed on 14 pedigree members. Whole-exome sequencing was used to identify the genetic alterations in the affected pedigree members. Lymphoblastoid cell lines (LCLs) were established using blood samples from the family members. Functional tests were performed with these cell lines.

Results: Six affected and eight unaffected ...


Is It Fair To Compare? A Patient And Family Experience Of Two Healthcare Systems And Neurosurgical Teams Within A Two-Week Period, Laura Miller CPXP 2019 Patient Experience Consultant

Is It Fair To Compare? A Patient And Family Experience Of Two Healthcare Systems And Neurosurgical Teams Within A Two-Week Period, Laura Miller Cpxp

Patient Experience Journal

As the mother of a 28-year-old son with cerebral palsy and hydrocephalus, and as a healthcare consultant focused on patient experience and professional development, I have a unique perspective and skill set. Recently he experienced symptoms that included an excruciating headache, neck pain and lethargy. Fearing his ventriculoperitoneal shunt had malfunctioned, he went to the emergency room and was later admitted on the neuro inpatient floor for a three-day hospitalization. His original shunt had been placed in 1991, and he never had an issue with until August 2018. While in the hospital, he was informed that he was no longer ...


Kangaroo Mother Care: Opportunities And Implications For Rural Pakistan, Hasan Nawaz Tahir, Zafar Fatmi 2019 Aga Khan University

Kangaroo Mother Care: Opportunities And Implications For Rural Pakistan, Hasan Nawaz Tahir, Zafar Fatmi

Community Health Sciences

Neonatal mortality comprises 40% of total under-5 mortality, globally. Kangaroo mother care (KMC) is one of the most cost-effective interventions to reduce neonatal mortality. KMC does not require highend equipment, intensive care facilities or technical knowledge. A recent meta-analysis reported that KMC may reduce neonatal mortality in preterm and low birth weight neonates up to 36%. A review of enablers and barriers of KMC suggests that KMC can be integrated in maternal health care system by giving awareness, involving family and giving ownership of the intervention to the community. If supported with minimal incentives it would reduce the cost of ...


Pharmacometabolomics Of Respiratory Phenotypic Response To Dexamethasone In Preterm Infants At Risk For Bronchopulmonary Dysplasia., Tamorah R. Lewis MD PhD, Prabhakar Chalise, Cheri Gauldin, William E. Truog 2019 Children's Mercy Hospital

Pharmacometabolomics Of Respiratory Phenotypic Response To Dexamethasone In Preterm Infants At Risk For Bronchopulmonary Dysplasia., Tamorah R. Lewis Md Phd, Prabhakar Chalise, Cheri Gauldin, William E. Truog

Manuscripts, Articles, Book Chapters and Other Papers

A prospective cohort study was performed in preterm infants less than 32 weeks gestation at birth who were treated with dexamethasone for developing or established bronchopulmonary dysplasia (BPD). Respiratory phenotype (Respiratory Severity Score (RSS)), serum, and urine metabolomics were assessed before and after treatment. Ten infants provided nine matched serum and nine matched urine samples. There was a significant decrease in RSS with steroid treatment. Serum gluconic acid had the largest median fold change (140 times decreased, P = 0.008). In metabolite set enrichment analysis, in both serum and urine, the urea cycle, ammonia recycling, and malate-aspartate shuttle pathways were ...


Not Just A Cyst: A Rare Presentation Of Luq Pain, Richard Henriquez, Isin Y. Comba MD, Sundeep Kumar MD, Khawaja Arsalan Bashir, Maria Wallis-Crespo MD, Lakhinder Bhatia MD 2019 HCA Healthcare

Not Just A Cyst: A Rare Presentation Of Luq Pain, Richard Henriquez, Isin Y. Comba Md, Sundeep Kumar Md, Khawaja Arsalan Bashir, Maria Wallis-Crespo Md, Lakhinder Bhatia Md

Gastroenterology

Lymphangioma is a benign congenital malformation of the lymphatic system that is relatively common in juvenile population. Rarely, it can be seen in adults and majority of the cases are reported in the head and neck region (70-75%). Typically, these malformations are asymptomatic. In this report, we present a rare case of splenic lymphangioma presenting with severe, intractable abdominal pain.


Social Isolation Among Families Caring For Children With Disabilities, Dennis J. Baumgardner 2019 Aurora UW Medical Group, Aurora Health Care

Social Isolation Among Families Caring For Children With Disabilities, Dennis J. Baumgardner

Journal of Patient-Centered Research and Reviews

In this issue introduction, the editor-in-chief of Journal of Patient-Centered Research and Reviews comments on the social isolation experienced by families that include children with significant disabilities.


Treatment Patterns And Economic Burden Of Sickle-Cell Disease Patients Prescribed Hydroxyurea: A Retrospective Claims-Based Study, Nirmish Shah, Menaka Bhor, Lin Xie, Rashid Halloway, Steve Arcona, Jincy Paulose, Huseyin Yuce 2019 Duke University

Treatment Patterns And Economic Burden Of Sickle-Cell Disease Patients Prescribed Hydroxyurea: A Retrospective Claims-Based Study, Nirmish Shah, Menaka Bhor, Lin Xie, Rashid Halloway, Steve Arcona, Jincy Paulose, Huseyin Yuce

Publications and Research

Background: This study aimed to evaluate sickle-cell disease (SCD) treatment patterns and economic burden among patients prescribed hydroxyurea (HU) in the US, through claims data.

Methods: SCD patients with pharmacy claims for HU were selected from the Medicaid Analytic Extracts (MAX) from January 1, 2009 - December 31, 2013. The first HU prescription during the identification period was defined as the index date and patients were required to have had continuous medical and pharmacy benefits for ≥6 months baseline and 12 months follow-up periods. Patient demographics, clinical characteristics, treatment patterns, health care utilization, and costs were examined, and variables were analyzed ...


Genetic Rescue Of Fragile X Syndrome Links Fmrp Deficiency To Codon Optimality-Dependent Rna Destabilization [Preprint], Huan Shu, Elisa Donnard, Botao Liu, Joel D. Richter 2019 University of Massachusetts Medical School

Genetic Rescue Of Fragile X Syndrome Links Fmrp Deficiency To Codon Optimality-Dependent Rna Destabilization [Preprint], Huan Shu, Elisa Donnard, Botao Liu, Joel D. Richter

University of Massachusetts Medical School Faculty Publications

Fragile X syndrome (FXS) is caused by inactivation of FMR1 gene and loss of its encoded product the RNA binding protein FMRP, which generally represses translation of its target transcripts in the brain. In mouse models of FXS (i.e., Fmr1 knockout animals; Fmr1 KO), deletion of Cpeb1, which encodes a translational activator, mitigates nearly all pathophysiologies associated with the disorder. Here we reveal unexpected wide-spread dys-regulation of RNA abundance in Fmr1 KO brain cortex and its rescue to normal levels in Fmr1/Cpeb1 double KO mice. Alteration and restoration of RNA levels are the dominant molecular events that drive ...


Fmrp Control Of Ribosome Translocation Promotes Chromatin Modifications And Alternative Splicing Of Neuronal Genes Linked To Autism [Preprint], Sneha Shah, Gemma Molinaro, Botao Liu, Ruijia Wang, Kimberly M. Huber, Joel D. Richter 2019 University of Massachusetts Medical School

Fmrp Control Of Ribosome Translocation Promotes Chromatin Modifications And Alternative Splicing Of Neuronal Genes Linked To Autism [Preprint], Sneha Shah, Gemma Molinaro, Botao Liu, Ruijia Wang, Kimberly M. Huber, Joel D. Richter

University of Massachusetts Medical School Faculty Publications

Silencing of FMR1 and loss of its gene product FMRP results in Fragile X Syndrome. FMRP binds brain mRNAs and inhibits polypeptide elongation. Using ribosome profiling of the hippocampus, we find that ribosome footprint levels in Fmr1-deficient tissue mostly reflect changes in RNA abundance. Profiling over a time course of ribosome runoff in wildtype tissue reveals a wide range of ribosome translocation rates; on many mRNAs, the ribosomes are stalled. Sucrose gradient ultracentrifugation of hippocampal slices after ribosome runoff reveals that FMRP co-sediments with stalled ribosomes; and its loss results in decline of ribosome stalling on specific mRNAs. One ...


Neonatal Abstinence Syndrome: A Targeted Review For Pharmacists, Andrew Skouby, Gabi Gegenheimer, Kelsey Lindsley, Sarah Kradel, Michael Rush 2019 Ohio Northern University

Neonatal Abstinence Syndrome: A Targeted Review For Pharmacists, Andrew Skouby, Gabi Gegenheimer, Kelsey Lindsley, Sarah Kradel, Michael Rush

Pharmacy and Wellness Review

Neonatal abstinence syndrome (NAS) is a disease that impacts drug-exposed infants and describes an array of issues that arise in newborns just hours after birth. Patient presentation and disease symptomatology vary widely based upon the specific substance utilized by the mother while pregnant and duration of exposure. Treatment is dependent on which symptoms are present and, assuming an opioid-derived abstinence syndrome, is based primarily on opioid supplementation to prevent symptoms of withdrawal. Treatment of non-opioid derived abstinence syndrome is often slightly more complex and involves the use of different agents depending on the drug of exposure. Due to the intricate ...


A Framework For Assessing The Lifetime Economic Burden Of Congenital Cytomegalovirus In The United States, Aaron Lucas, Anushua Sinha, Karen B. Fowler, Deirdre Mladsi, Christine Barnett, Salome Samant, Laura L. Gibson 2019 1RTI Health Solutions

A Framework For Assessing The Lifetime Economic Burden Of Congenital Cytomegalovirus In The United States, Aaron Lucas, Anushua Sinha, Karen B. Fowler, Deirdre Mladsi, Christine Barnett, Salome Samant, Laura L. Gibson

Open Access Publications by UMMS Authors

Background: In the United States (US), congenital cytomegalovirus infection (cCMVi) is a major cause of permanent disabilities and the most common etiology of non-genetic sensorineural hearing loss. Evaluations of prevention strategies will require estimates of the economic implications of cCMVi. We aimed to develop a conceptual framework to characterize the lifetime economic burden of cCMVi in the US and to use that framework to identify data gaps.

Methods: Direct health care, direct non-health care, indirect, and intangible costs associated with cCMVi were considered. An initial framework was constructed based on a targeted literature review, then validated and refined after consultation ...


Increasing Rates Of Breastmilk Use At Time Of Neonatal Intensive Care Unit (Nicu) Discharge: An Improvement Project In A Midwest Level Iv Nicu, Kathleen Hortenstine, Teresa Fulk, Stephanie Callis, Kyla Galate, Beckie Palmer 2019 Children's Mercy Hospital

Increasing Rates Of Breastmilk Use At Time Of Neonatal Intensive Care Unit (Nicu) Discharge: An Improvement Project In A Midwest Level Iv Nicu, Kathleen Hortenstine, Teresa Fulk, Stephanie Callis, Kyla Galate, Beckie Palmer

Posters

  • Breast milk is the preferred food for all infants.
  • The rate of breast milk use at time of discharge was below the goal of the institution.
  • A gap was identified in bedside nursing education, limiting their ability to provide resources and education to mothers. Nursing involvement ensures skilled, comprehensive, and accessible breastfeeding support.
  • The aim of this project is to increase breast milk rates at time of NICU discharge to 95% of eligible patients by December of 2019.


Comparison Of Echocardiographic Measurements To Invasive Measurements Of Diastolic Function In Infants With Single Ventricle Physiology: A Report From The Pediatric Heart Network Infant Single Ventricle Trial., Suma P. Goudar, Victor Zak, Andrew M. Atz, Karen Altmann, Steven D. Colan, Christine B. Falkensammer, Mark K. Friedberg, Michele Frommelt, Kevin D. Hill, Daphne T. Hsu, Jami C. Levine, Renee Margossian, Christopher R. Mart, Joshua Sticka, Peter Shrader, Girish S. Shirali, Pediatric Heart Network Investigators 2019 Children's Mercy Hospital

Comparison Of Echocardiographic Measurements To Invasive Measurements Of Diastolic Function In Infants With Single Ventricle Physiology: A Report From The Pediatric Heart Network Infant Single Ventricle Trial., Suma P. Goudar, Victor Zak, Andrew M. Atz, Karen Altmann, Steven D. Colan, Christine B. Falkensammer, Mark K. Friedberg, Michele Frommelt, Kevin D. Hill, Daphne T. Hsu, Jami C. Levine, Renee Margossian, Christopher R. Mart, Joshua Sticka, Peter Shrader, Girish S. Shirali, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: While echocardiographic parameters are used to quantify ventricular function in infants with single ventricle physiology, there are few data comparing these to invasive measurements. This study correlates echocardiographic measures of diastolic function with ventricular end-diastolic pressure in infants with single ventricle physiology prior to superior cavopulmonary anastomosis.

METHODS: Data from 173 patients enrolled in the Pediatric Heart Network Infant Single Ventricle enalapril trial were analysed. Those with mixed ventricular types (n = 17) and one outlier (end-diastolic pressure = 32 mmHg) were excluded from the analysis, leaving a total sample size of 155 patients. Echocardiographic measurements were correlated to end-diastolic pressure ...


A Multifaceted Approach To Improve Quarterly Visit Rates At A Pediatric Cystic Fibrosis Care Center, Paula Capel, Jessica Banks, Micaela McKenna, Ashley Andrews, Christopher M. Oermann 2019 Children's Mercy Hospital

A Multifaceted Approach To Improve Quarterly Visit Rates At A Pediatric Cystic Fibrosis Care Center, Paula Capel, Jessica Banks, Micaela Mckenna, Ashley Andrews, Christopher M. Oermann

Posters

Standard quality improvement methodology was used to improve quarterly visit rates among cystic fibrosis patients at Children's Mercy Kansas City Cystic Fibrosis Center.

  • A family-centered, team-based approach was adopted
  • A change in culture led to sustained improvement

Improved quarterly visit rates should drive improvement in outcomes including pulmonary function and nutritional status.


Safe To Sleep In The Icn, Megan Kelly, Alexandra (Lexi) Van Noy, Molly Kruse, Megan English, Hannah Culbertson, Brianne Truitt, Ziryan Salihparkhy, Jenny McKee, Brecklyn Findley 2019 Children's Mercy Hospital

Safe To Sleep In The Icn, Megan Kelly, Alexandra (Lexi) Van Noy, Molly Kruse, Megan English, Hannah Culbertson, Brianne Truitt, Ziryan Salihparkhy, Jenny Mckee, Brecklyn Findley

Posters

The CDC states that 1,545 infants passed away from SIDS in 2014. Safe sleep includes supine, in a crib, head of bed flat, firm sleep surface, tightly fitted sheet, no loose blankets, no toys or supplies in crib with infant. It is important for nurses to model safe sleep practices in the hospital setting. Current compliance with safe sleep in the Intensive Care Nursery is 50%.

AIM Statement:

By August 1, 2019 we want to increase the compliance of modeling safe sleep behaviors for patients who qualify for safe sleep from 50% to 90% in the Intensive Care Nursery.


Lighting The Way To Ensure Safe Transition Home, Barb Haney, Ashley Mirabile, Dianne Wilderson, Beckie Palmer, Ashley Lewis, Cris Mills, Eugenia K. Pallotto 2019 Children's Mercy Hospital

Lighting The Way To Ensure Safe Transition Home, Barb Haney, Ashley Mirabile, Dianne Wilderson, Beckie Palmer, Ashley Lewis, Cris Mills, Eugenia K. Pallotto

Posters

All aspects of discharge (education, screenings, appointments, plans and home services" must be completed and appropriately communicated prior to discharge to ensure safe transition to home.

Goal: Standardize all aspects of discharge in a large, busy 84-bed Level IV NICU with >1000 admissions/year and >300 nurses, >60 NNPs, and >25 neonatologists.

  • 95% of patients with lengths of stay >3 days have all discharge planning completed prior to discharge/Parent Care Unit overnight stay


Improving Care Of The Small Baby, Beckie Palmer, Abdebayo Oshodi, Brandy Huitt, Kaylee Hurt, Pamela Kliethermes, Trudy Koons, Patricia Lanzer, Ashley Mirabile, Allyson Owen, Christian Anthony Schneider, Betsi Anderson, Steven Olsen 2019 Children's Mercy Hospital

Improving Care Of The Small Baby, Beckie Palmer, Abdebayo Oshodi, Brandy Huitt, Kaylee Hurt, Pamela Kliethermes, Trudy Koons, Patricia Lanzer, Ashley Mirabile, Allyson Owen, Christian Anthony Schneider, Betsi Anderson, Steven Olsen

Posters

Hierarchy of Aims:

  • Global Aim: Create a Small Baby Unit for infants admitted to our NICU that arebirth, in which 90% of our patients are admitted to F pod on day of admission, by March 2019
  • Interim Aim: Staff 80% of our micropremie patients with a Small Baby Team nurse from admission until >32 weeks by May 2019.
  • Sub Aim: Increase rates of developmentally appropriate care (2 person cares, kangaroo care compliance) by 50% by August 2019.


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