DOCSLIB.ORG

NEONATOLOGY TODAY Loma Linda Publishing Company © 2006-2018 by Neonatology Today a Delaware “Not for Profit” 501(C) 3 Corporation

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
NEONATOLOGY TODAY Loma Linda Publishing Company © 2006-2018 by Neonatology Today a Delaware “Not for Profit” 501(C) 3 Corporation NEONATOLOGY Peer Reviewed Research, News and Information TODAY in Neonatal and Perinatal Medicine Volume 13 / Issue 7 | July 2018 Many Hospitals Still Employ Non-Evidence Based Awards and Abstracts from the Perinatal Advisory Practices, Including Auscultation, Creating Serious Council, Leadership, Advocacy, and Consultation Patient Safety Risk in Nasogastric Tube Placement (PAC-LAC) Annual Meeting and Verification Aida Simonian, MSN, RNC-NIC, SCM, SRN Beth Lyman MSN, RN, CNSC, FASPEN, Christine Peyton MS, Brian .............................................................................................................Page 38 Lane, MD. Perinatal/Neonatal Medicolegal Forum ..............................................................................................................Page 3 Gilbert Martin, MD and Jonathan Fanaroff, MD, JD The Story of a Nasogastric Tube Gone Wrong .............................................................................................................Page 42 Deahna Visscher, Patient Advocate Feeding Options Exist: So Why Aren’t We .............................................................................................................Page 12 Discussing Them at Bedside? National Black Nurses Association Announces Deb Discenza Human Donor Milk Resolution .............................................................................................................Page 43 National Black Nurses Association The Genetics Corner: A Consultation for Orofacial .............................................................................................................Page 16 Cleft: Van der Woude Syndrome National Black Nurses Association Resolution: Subhadra (Subha) Ramanathan, MSc, MS, Ruben Marchosky and Creating a Culture of Safety with Human Milk Banks Robin Clark, MD National Black Nurses Association .............................................................................................................Page 46 .............................................................................................................Page 17 Fish Consumption for Pregnant Women The Morgan Leary Vaughan Fund and Mitchell Goldstein, MD NEC Unplugged: Meeting Overview .............................................................................................................Page 49 Jennifer Degl Monthly Clinical Pearls: “Theophylline is Safe for Apnea .............................................................................................................Page 20 of Prematurity: Drs. Carl Hunt and Jerold Lucey” National Perinatal Association Statement June 2018: Joseph R. Hageman, MD NPA Advocates for the Health and Wellbeing of Migrant .............................................................................................................Page 53 Families Letters to the Editor Jerasimos (Jerry) Ballas, MD, MPH, Cris Glick, MD, IBCLC, MaryAnne Raylene Philips, MD with response from Mitchell Goldstein, MD Laffin, RN, MS, CNM, FACNM, Erika Goyer, Cheryl A. Milford, Ed.S. .............................................................................................................Page 55 .............................................................................................................Page 24 Upcoming Meetings How Congress Can Help with Coverage Parity for .............................................................................................................Page 57 Editorial Board Medically Necessary Foods and Treatment for .............................................................................................................Page 59 Infants and Children Alliance for Patient Access (AfPA) Government Affairs Team Neonatology and the Arts .............................................................................................................Page 27 Herbert Vasquez, MD .............................................................................................................Page 60 Medical News, Products & Information Mitchell Goldstein, MD Manuscript Submission: Instructions to Authors .............................................................................................................Page 29 .............................................................................................................Page 60 FROM THE NATIONAL PERINATAL INFORMATION Neonatology and the Arts: The Spectrum of Vio- CENTER:Special Report: Maternal Substance Use lence in Perinatal & Neonatal Care: Reducing the Disorder and Neonatal Substance Use Exposure Risks (two of three in a series) Sandra A. Boyle, BS and Janet H. Muri, MBA Herbert Vasquez, MD .............................................................................................................Page 35 .............................................................................................................Page 61 NEONATOLOGY TODAY Loma Linda Publishing Company © 2006-2018 by Neonatology Today A Delaware “not for profit” 501(c) 3 Corporation. Published monthly. All rights reserved. c/o Mitchell Goldstein, MD ISSN: 1932-7137 (Online), 1932-7129 (Print) 11175 Campus Street, Suite #11121 All editions of the Journal and associated Loma Linda, CA 92354 manuscripts are available on-line: Tel: +1 (302) 313-9984 www.NeonatologyToday.net [email protected] www.Twitter.com/NeoToday NT ENFit® isn’t the future. It’s now. 17 million feeds and medication doses delivered. 240 NeoConnect® hospital users. Not a single reported misconnection. Share our customers’ confidence in NeoConnect - your ENFit solution for dose accuracy and patient safety. with ENFit® www.neomedinc.com Connectors Peer Reviewed Many Hospitals Still Employ Non-Evidence Based Practices, Including Auscultation, Creating Serious Patient Safety Risk in Nasogastric Tube Placement and Verification Beth Lyman MSN, RN, CNSC, FASPEN, Christine Peyton MS, Brian research and best practices for nasogastric tube placement and Lane, MD verification with attention to the NICU population. Neonatologists, in particular, must understand the most appropriate methods of NGT verification given the risks, of both harm and litigation, for Case Study: such a routine procedure. A 10-day old male infant s/p Coarctation of the Aorta (CoA) repair was fed breastmilk with minimal intake. The patient required Complications from misplaced NGTs can range from pneumothorax, nasogastric tube (NGT) placement for supplemental intake to requiring chest tube placement, to profound chemical pneumonitis meet caloric and protein needs. The infant’s RN inserted a new and respiratory distress syndrome.9-10 In some patients, this can NGT with assistance from charge nurse at 8:30 pm with moderate be a terminal event, as was reported in a Patient Safety Alert resistance noted during insertion. The patient demonstrated issued by the United Kingdom National Health Service in 2013,11- increased work of breathing and oxygen saturation decreased 12 Even an experienced clinician may have difficulty recognizing from 98% to 90%. Gastric aspirate was obtained, and the pH pulmonary intubation when placing a temporary NGT. Although was 6.0. The RN obtained abdominal X-Ray order to confirm considered the “gold standard,” radiographs are not commonly placement. The attending physician notified the RN at 9:30 pm obtained before initial or repeated use of the tube due to concerns that the NGT was not in the stomach. The physician requested of radiation exposure.13-15 A 2009 study found that there is a need nasogastric tube (NGT) be removed. The RN removed NGT at for both (1) better methods to measure the distance between nose 2145 with minimal resistance at which time the patient’s oxygen (lips) and the body of the stomach and (2) improved methods to saturation decreased from 90% to 86%. Auscultated breath confirm correct tube position in neonates.16 sounds and assessment showed diminished breath sounds in the right lower lobe. The RN notified MD who ordered oxygen In most developed countries, correct placement of orogastric 1 LPM via nasal cannula and another chest X-Ray. Chest X-ray (OG) or nasogastric (NG) feeding tubes is confirmed using pH was read at 2200 and showed a tension pneumothorax. The MD measurement. While this has been slow to be accepted in the arrived at the bedside at 2205 and performed emergent needle United States, there is much work being done to make this a decompression for tension pneumothorax. global patient safety initiative. The United States needs to “catch- up” and “join-in” this initiative by using a consistent, evidence- based approach to NG and OG tube placement verification. 1. What’s the problem? The use of nasogastric tubes (NGT) in patients provide a means 2. What actions can be taken to improve the process? to administer much-needed nutrition, fluids, and medications to children and adults unable to orally consume adequate nutrition. a. Eliminate the Use of Non-Evidence Based Practices A recent study with 63 participating institutions showcased just how common the use of nasogastric feeding tubes are. It found Despite the risks associated with this common procedure, no approximately 24% of all pediatric patients require a nasogastric universal standard of practice exists for bedside verification feeding tube and of this 24%, more than 60% were neonates. because each method has limitations. There are risks associated with the placement of temporary NGTs because it is a blind placement procedure. The same risks that “Radiographs are currently the exist with blind placement of a
Load more

Recommended publications
  • Novel Heterozygous Pathogenic Variants in CHUK in a Patient With
    Cadieux-Dion et al. BMC Medical Genetics (2018) 19:41 https://doi.org/10.1186/s12881-018-0556-2 CASE REPORT Open Access Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report Maxime Cadieux-Dion1* , Nicole P. Safina2,6,7, Kendra Engleman2, Carol Saunders1,3,7, Elena Repnikova1,2, Nikita Raje4, Kristi Canty5, Emily Farrow1,6, Neil Miller1, Lee Zellmer3 and Isabelle Thiffault1,2,3 Abstract Background: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/ palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis. Case presentation: We describe a patient presenting clinical features reminiscent of AEC syndrome in addition to recurrent infections suggestive of immune deficiency. Genetic testing for TP63, IRF6 and RIPK4 was negative. Microarray analysis revealed a 2 MB deletion on chromosome 1 (1q21.1q21.2). Clinical exome sequencing uncovered compound heterozygous variants in CHUK; a maternally-inherited frameshift variant (c.1365del, p.Arg457Aspfs*6) and a de novo missense variant (c.1388C > A, p.Thr463Lys) on the paternal allele. Conclusions: To our knowledge, this is the fourth family reported with CHUK-deficiency and the second patient with immune abnormalities.
    [Show full text]
  • Screening for Obstructive Sleep Apnea in Children with Syndromic Cleft Lip And/Or Palate* Jason Silvestre, Youssef Tahiri, J
    Journal of Plastic, Reconstructive & Aesthetic Surgery (2014) 67, 1475e1480 Screening for obstructive sleep apnea in children with syndromic cleft lip and/or palate* Jason Silvestre, Youssef Tahiri, J. Thomas Paliga, Jesse A. Taylor* Division of Plastic Surgery, The Perelman School of Medicine at the University of Pennsylvania, The Children’s Hospital of Philadelphia, USA Received 20 December 2013; accepted 22 July 2014 KEYWORDS Summary Background: Craniofacial malformations including cleft lip and/or palate (CL/P) Obstructive sleep increase risk for obstructive sleep apnea (OSA). While 30% of CL/P occurs in the context of un- apnea; derlying genetic syndromes, few studies have investigated the prevalence of OSA in this high- Pediatric; risk group. This study aims to determine the incidence and risk factors of positive screening for Questionnaire; OSA in this complex patient population. Screening; Methods: The Pediatric Sleep Questionnaire (PSQ) was prospectively administered to all pa- Cleft lip and palate tients cared for by the cleft lip and palate clinic at the Children’s Hospital of Philadelphia be- tween January 2011 and August 2013. The PSQ is a 22-item, validated screening tool for OSA with a sensitivity and specificity of 0.83 and 0.87 in detecting an apnea-hypopnea index (AHI) >5/hour in healthy children. The Fisher exact and Chi-square tests were used for pur- poses of comparison. Results: 178 patients with syndromic CL/P completed the PSQ. Mean cohort age was 8.1 Æ 4.4 years. Patients were predominately female (53.9%), Caucasian (78.1%), and had Veau Class II cleft (50.6%).
    [Show full text]
  • Bartsocas-Papas Syndrome: a Lethal Multiple Pterygium Syndrome Neonatology Section
    DOI: 10.7860/JCDR/2021/45819.14401 Case Report Bartsocas-Papas Syndrome: A Lethal Multiple Pterygium Syndrome Neonatology Section SUMITA MEHTA1, EKTA KALE2, TARUN KUMAR RAVI3, ANKITA MANN4, PRATIBHA NANDA5 ABSTRACT Bartsocas-Papas Syndrome (BPS) is a very rare autosomal recessive syndrome characterised by marked craniofacial deformities, multiple pterygia of various joints, limb and genital abnormalities. It is mostly associated with mutation in the gene encoding Receptor Interacting Serine/Threonine Kinase 4 (RIPK4) required for keratinocyte differentiation. The syndrome is generally lethal and majority of babies die in-utero or in the early neonatal period. This is a report about a neonate born with characteristic clinical features of BPS including severe craniofacial and ophthalmic abnormalities, limb deformities and multiple pterygia at popliteal, axillary and inguinal region. The baby had respiratory distress at birth and was managed conservatively on Continuous Positive Airway Pressure (CPAP)/Oxygen hood and injectable antibiotics for two weeks and then referred for further work-up to a tertiary hospital. The parents took the baby home against the advice of the treating doctors and she subsequently died after 10 days. BPS is associated with high mortality and so all efforts should be directed towards diagnosing it early antenatally when termination of pregnancy is a viable option. This is possible by having a high index of suspicion in couples with consanguineous marriages or with a positive family history. Keywords: Craniofacial abnormalities, Genitals, Joints, Limb, Mutation, Popliteal pterygium syndrome CASE REPORT A 27-year-old primigravida, with previous two antenatal visits, had a breech vaginal delivery at 37 weeks of gestation.
    [Show full text]
  • 2019 Literature Review
    2019 ANNUAL SEMINAR CHARLESTON, SC Special Care Advocates in Dentistry 2019 Lit. Review (SAID’s Search of Dental Literature Published in Calendar Year 2018*) Compiled by: Dr. Mannie Levi Dr. Douglas Veazey Special Acknowledgement to Janina Kaldan, MLS, AHIP of the Morristown Medical Center library for computer support and literature searches. Recent journal articles related to oral health care for people with mental and physical disabilities. Search Program = PubMed Database = Medline Journal Subset = Dental Publication Timeframe = Calendar Year 2016* Language = English SAID Search-Term Results = 1539 Initial Selection Result = 503 articles Final Selection Result =132 articles SAID Search-Terms Employed: 1. Intellectual disability 21. Protective devices 2. Mental retardation 22. Moderate sedation 3. Mental deficiency 23. Conscious sedation 4. Mental disorders 24. Analgesia 5. Mental health 25. Anesthesia 6. Mental illness 26. Dental anxiety 7. Dental care for disabled 27. Nitrous oxide 8. Dental care for chronically ill 28. Gingival hyperplasia 9. Special Needs Dentistry 29. Gingival hypertrophy 10. Disabled 30. Autism 11. Behavior management 31. Silver Diamine Fluoride 12. Behavior modification 32. Bruxism 13. Behavior therapy 33. Deglutition disorders 14. Cognitive therapy 34. Community dentistry 15. Down syndrome 35. Access to Dental Care 16. Cerebral palsy 36. Gagging 17. Epilepsy 37. Substance abuse 18. Enteral nutrition 38. Syndromes 19. Physical restraint 39. Tooth brushing 20. Immobilization 40. Pharmaceutical preparations Program: EndNote X3 used to organize search and provide abstract. Copyright 2009 Thomson Reuters, Version X3 for Windows. *NOTE: The American Dental Association is responsible for entering journal articles into the National Library of Medicine database; however, some articles are not entered in a timely manner.
    [Show full text]
  • Van Der Woude Syndrome
    Journal of Dental Health Oral Disorders & Therapy Mini Review Open Access Van Der Woude syndrome Introduction Volume 7 Issue 2 - 2017 The Van der Woude syndrome is an autosomal dominant syndrome Ambarkova Vesna and was originally described by Van der Woude in 1954, as a dominant Department of Paediatric and Preventive Dentistry, University inheritance pattern with variable penetrance and expression, even St. Cyril and Methodius, Macedonia within families. Even monozygotic twins may be affected to markedly different degrees.1 Correspondence: Vesna Ambarkova, Department of Paediatric and Preventive Dentistry, Faculty of Dental Medicine, University Etiology St. Cyril and Methodius, Mother Theresa 17 University Dental Clinic Center Sv. Pantelejmon Skopje 1000, Macedonia, Tel The syndrome has been linked to a deletion in chromosome 38970686333, Email 1q32-q41, but a second chromosomal locus at 1p34 has also been Received: April 12, 2017 | Published: May 02, 2017 identified. The exact mechanism of the interferon regulatory factor 6 (IRF6) gene mutations on craniofacial development is uncertain. Chromosomal mutations that cause van der Woude syndrome and are associated with IRF-6 gene mutations. A potential modifying gene has been identified at 17p11.2-p11.1. Los et al stated that most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome I.2 They describe a unique case mother presented with a classic Van der Woude Syndrome, while the of the two syndromes occurring concurrently though apparently maternal grandfather had Van der Woude Syndrome as well as minor independently in a girl with Van der Woude syndrome and pituitary signs of popliteal pterygium syndrome.
    [Show full text]
  • Van Der Woude Syndrome and Implications in Dental Medicine Flavia Gagliardi and Ines Lopes Cardoso*
    Research Article iMedPub Journals Journal of Dental and Craniofacial Research 2018 www.imedpub.com Vol.3 No.1:1 ISSN 2576-392X DOI: 10.21767/2576-392X.100017 Van der Woude Syndrome and Implications in Dental Medicine Flavia Gagliardi and Ines Lopes Cardoso* Faculty of Health Sciences, University of Fernando Pessoa, Rua Carlos da Maia, Portugal *Corresponding author: Ines Lopes Cardoso, Faculty of Health Sciences, University of Fernando Pessoa, Rua Carlos da Maia, 296, 4200-150 Porto, Portugal, Tel: 351 225071300; E-mail: [email protected] Rec date: January 18, 2018; Acc date: January 24, 2018; Pub date: January 29, 2018 Citation: Gagliardi F, Cardoso IL (2018) Van der Woude Syndrome and Implications in Dental Medicine. J Dent Craniofac Res Vol.3 No.1:1. determined that this pathology has a complex heritage, with a single gene involved, with high penetrance but variable Abstract expressivity. The variety of symptoms can go from fistulas of the lower lip with lip and palate cleft to invisible anomalies [2]. There are many types of genetic anomalies that affect the development of orofacial structures. Van der Woude It is a rare congenital malformation with an autossomic syndrome (VWS), also known as cleft palate, lip pits or lip dominant transmission consisting of 2% of all cases of cleft lip pit papilla syndrome, is a rare autosomal dominant and palate, with an incidence of 1 in 35,000-100,000 [3-5]. condition being considered the most common cleft Lip pits were the most common manifestation present in syndrome. It is believed to occur in 1 in 35,000 to 1 in affected individuals, occurring in 88% of patients [6,7].
    [Show full text]
  • Abdullah Thesis
    SMAD2 OVEREXPRESSION RESCUES THE TGF-Β3 NULL MUTANT MICE CLEFT PALATE BY INCREASED APOPTOSIS by Abdullah M AlMegbel B.D.S., King Saud University, 2003 AEGD, University of Southern California, 2008 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE in THE FACULTY OF GRADUATE AND POSTDOCTORAL STUDIES (Craniofacial Science) THE UNIVERSITY OF BRITISH COLUMBIA (Vancouver) December 2016 © Abdullah M AlMegbel, 2016 Abstract Objectives: Cleft lip/palate is a common birth defect. It occurs in about one in 700 live births worldwide. In non-syndromic cleft lip/palate, a linkage to TGF-β3 has been shown. Signaling of TGF-β3 is mediated in the cell through the Smad2 protein. During secondary palate fusion TGF- β3 signaling leads to the disappearance of the epithelial midline seam and the confluence of the palatal mesenchyme. TGF-β3 null mice are born with a cleft in the secondary palate, a phenotype that has been rescued by targeted overexpression of Smad2 in the MEE. The goal of this research was to understand the mechanism of palatal fusion in the rescue mice. Methods: The heads of embryos of four different mice models (wild-type, rescue, K14-Smad2 overexpression and TGF-β3 null) were collected at gestational age E14.5 genotyped, fixed and embedded in paraffin. Serial sections were studied for detection of apoptosis and epithelial mesenchymal transition using immunofluorescence. Images were captured with confocal laser microscopy. Results: TGF-β3 null mice developed a cleft in the secondary palate while mice that had both the TGF-β3 null and overexpression K14-Smad2 genotypes had fusion of the secondary palate.
    [Show full text]
  • Genetic Heterogeneity in Van Der Woude Syndrome: Identification of NOL4 and IRF6 Haplotype from the Noncoding Region As Candidates in Two Families
    RESEARCH ARTICLE Genetic heterogeneity in Van der Woude syndrome: Identification of NOL4 and IRF6 haplotype from the noncoding region as candidates in two families Priyanka Kumari1, Akhtar Ali2, Subodh Kumar Singh3, Amit Chaurasia4, Rajiva Raman1 1Cytogenetics Laboratory, Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi-221005, Uttar Pradesh, India 2Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi- 221005, Uttar Pradesh, India 3G. S. Memorial Plastic Surgery Hospital and Trauma Centre, Varanasi-221010, Uttar Pradesh, India 4Premas Life Sciences, Pvt. Ltd., New Delhi, India Running Title: Non coding region variants are involved in VWS Address for correspondence: Prof. Rajiva Raman, Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, Varanasi-221005, Uttar Pradesh, India. e-mail: [email protected], [email protected] Abstract Van der Woude Syndrome (VWS) shows autosomal dominant pattern of inheritance with 2 known candidate genes, IRF6 and GRHL3. Employing genome wide linkage analyses on 2 VWS affected families, we report co-segregation of an intronic rare variant in NOL4 in one family, and a haplotype consisting of 3 variants in non coding region of IRF6 (introns1, 8 and 3’UTR) in the other family. Using mouse as well as human embryos as model, we demonstrate expression of NOL4 in the lip and palate primordia during development. Luciferase as well as miRNA-transfection assays show decline in the expression of mutant NOL4 construct due to creation of a binding site for hsa-miR-4796-5p. In family 2, the non-coding region IRF6 haplotype turns out to be the candidate possibly by diminishing its IRF6 expression to half of its normal activity.
    [Show full text]
  • An Etiologic Regulatory Mutation in IRF6 with Loss- and Gain-Of-Function Effects
    Human Molecular Genetics, 2014, Vol. 23, No. 10 2711–2720 doi:10.1093/hmg/ddt664 Advance Access published on January 16, 2014 An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects Walid D. Fakhouri1,{, Fedik Rahimov4,{, Catia Attanasio5, Evelyn N. Kouwenhoven6, Renata L. Ferreira De Lima4, Temis Maria Felix8, Larissa Nitschke1, David Huver1, Julie Barrons1, Youssef A. Kousa2, Elizabeth Leslie4, Len A. Pennacchio5, Hans Van Bokhoven6,7, Axel Visel5, Huiqing Zhou6,9, Jeffrey C. Murray4 and Brian C. Schutte1,3,∗ Downloaded from https://academic.oup.com/hmg/article/23/10/2711/614966 by guest on 05 October 2021 1Microbiology and Molecular Genetics, 2Department of Biochemistry and Molecular Biology and 3Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI 48824, USA 4Department of Pediatrics, The University of Iowa, Iowa City, IA 52242, USA 5Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA 6Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and 7Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands 8Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil 9Faculty of Science, Department of Molecular Developmental Biology, Radboud University Nijmegen, Nijmegen, The Netherlands Received September 25, 2013; Revised December 7, 2013; Accepted December 23, 2013 DNA variation in Interferon Regulatory Factor 6 (IRF6) causes Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate (CLP). However, an etiologic variant in IRF6 has been found in only 70% of VWS families. To test whether DNA variants in regulatory elements cause VWS, we sequenced three conserved elements near IRF6 in 70 VWS families that lack an etiologic mutation within IRF6 exons.
    [Show full text]
  • Epidemiology, Etiology, and Treatment of Isolated Cleft Palate
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Frontiers - Publisher Connector REVIEW published: 01 March 2016 doi: 10.3389/fphys.2016.00067 Epidemiology, Etiology, and Treatment of Isolated Cleft Palate Madeleine L. Burg 1, Yang Chai 2, Caroline A. Yao 3, 4, William Magee III 3, 4 and Jane C. Figueiredo 5* 1 Department of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA, 2 Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA, USA, 3 Division of Plastic and Reconstructive Surgery, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA, 4 Division of Plastic and Maxillofacial Surgery, Children’s Hospital Los Angeles, Los Angeles, CA, USA, 5 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the Edited by: highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Paul Trainor, Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Stowers Institute for Medical Research, USA Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher Reviewed by: in females compared to males. Approximately fifty percent of cases born with cleft Keiji Moriyama, palate occur as part of a known genetic syndrome or with another malformation Tokyo Medical and Dental University, Japan (e.g., congenital heart defects) and the other half occur as solitary defects, referred to Daniel Graf, often as non-syndromic clefts.
    [Show full text]
  • Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models
    CHAPTER SEVENTEEN From Bench to Bedside and Back: Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models Alice F. Goodwin*,†, Rebecca Kim*,†, Jeffrey O. Bush*,{,},1, Ophir D. Klein*,†,},},1 *Program in Craniofacial Biology, University of California San Francisco, San Francisco, California, USA †Department of Orofacial Sciences, University of California San Francisco, San Francisco, California, USA { Department of Cell and Tissue Biology, University of California San Francisco, San Francisco, California, USA } Department of Pediatrics, University of California San Francisco, San Francisco, California, USA } Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA 1Corresponding authors: e-mail address: [email protected]; [email protected] Contents 1. Models to Uncover Genetics of Cleft Lip and Palate 460 2. Treacher Collins: Proof of Concept of a Nonsurgical Therapeutic for a Craniofacial Syndrome 467 3. RASopathies: Understanding and Developing Treatment for Syndromes of the RAS Pathway 468 4. Craniosynostosis: Pursuing Genetic and Pharmaceutical Alternatives to Surgical Treatment 473 5. XLHED: Developing Treatment Based on Knowledge Gained from Mouse and Canine Models 477 6. Concluding Thoughts 481 Acknowledgments 481 References 481 Abstract Craniofacial anomalies are among the most common birth defects and are associated with increased mortality and, in many cases, the need for lifelong treatment. Over the past few decades, dramatic advances in the surgical and medical care of these patients have led to marked improvements in patient outcomes. However, none of the treat- ments currently in clinical use address the underlying molecular causes of these disor- ders. Fortunately, the field of craniofacial developmental biology provides a strong foundation for improved diagnosis and for therapies that target the genetic causes # Current Topics in Developmental Biology, Volume 115 2015 Elsevier Inc.
    [Show full text]
  • The Penetrance and Variable Expression of the Van Der Woude Syndrome: Implications for Genetic Counseling
    The Penetrance and Variable Expression of The Van der Woude Syndrome: Implications for Genetic Counseling ROBERT J. SHPRINTZEN, Ph.D. ROSALIE B. GOLDBERG, M.S. EUGENE J. SIDOTI, M.D. Bronx, New York 10467 The presence of congenital fistulae in the lower lip in combination with cleft lip, cleft palate, or both is diagnostic of the Van der Woude syndrome. This autosomal dominant syndrome had been reported to have a penetrance of 80% with variable expression. An analysis of eleven families with 67 affected individuals showed variable expression of clefting and lower lip pits However, penetrance was found to be close to 100%. An approach to counseling advocates advising a 50% chance of inheriting the gene for Van der Woude syndrome. Van der Woude syndrome (Van der syndrome, to explore its variability as a hu- Woude, 1954) is a reportedly rare autosomal man model for clefting, and to raise questions dominant congenital malformation syn- concerning genetic counseling and embryol- drome. The features are limited to pits in the ogy. lower lip, cleft lip, and cleft palate. With the exception of the lip pits, the syndrome is Clinical Materials phenotypically identical to isolated cleft lip- Eleven families with at least one member cleft palate in all of its variations. The expres- affected with Van der Woude syndrome were sion of Van der Woude syndrome is highly taken from the case load at the Center for variable. Individuals have been reported with Craniofacial Disorders (CCFD) of Montefiore lip pits only, with clefts only, and with lip pits Hospital and Medical Center. Seven of these in combination with clefts.
    [Show full text]