ABSTRACTS BARNETT R, SHUSTERMAN S. Fetal Alcohol
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Pfeiffer Syndrome Type II Discovered Perinatally
Diagnostic and Interventional Imaging (2012) 93, 785—789 CORE Metadata, citation and similar papers at core.ac.uk Provided by Elsevier - Publisher Connector LETTER / Musculoskeletal imaging Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature a,∗ a a a H. Ben Hamouda , Y. Tlili , S. Ghanmi , H. Soua , b c b a S. Jerbi , M.M. Souissi , H. Hamza , M.T. Sfar a Unité de néonatologie, service de pédiatrie, CHU Tahar Sfar, 5111 Mahdia, Tunisia b Service de radiologie, CHU Tahar Sfar, 5111 Mahdia, Tunisia c Service de gynéco-obstétrique, CHU Tahar Sfar, 5111 Mahdia, Tunisia Pfeiffer syndrome, described for the first time by Pfeiffer in 1964, is a rare hereditary KEYWORDS condition combining osteochondrodysplasia with craniosynostosis [1]. This syndrome is Pfeiffer syndrome; also called acrocephalosyndactyly type 5, which is divided into three sub-types. Type I Cloverleaf skull; is the classic Pfeiffer syndrome, with autosomal dominant transmission, often associated Craniosynostosis; with normal intelligence. Types II and III occur as sporadic cases in individuals who have Syndactyly; craniosynostosis with broad thumbs, broad big toes, ankylosis of the elbows and visceral Prenatal diagnosis abnormalities [2]. We report a case of Pfeiffer syndrome type II, discovered perinatally, which is distinguished from type III by the skull appearing like a cloverleaf, and we shall discuss the clinical, radiological and evolutive features and the advantage of prenatal diagnosis of this syndrome with a review of the literature. Observation The case involved a male premature baby born at 36 weeks of amenorrhoea with multiple deformities at birth. The parents were not blood-related and in good health who had two other boys and a girl with normal morphology. -
Hearing Aid Uptake in Children with Unilateral Microtia and Canal Atresia: a Comparison Between a Tertiary Center and Peripheral Centers
J Int Adv Otol 2020; 16(1): 73-6 • DOI: 10.5152/iao.2020.5509 Original Article Hearing Aid Uptake in Children with Unilateral Microtia and Canal Atresia: A Comparison between a Tertiary Center and Peripheral Centers Todd Kanzara , Alasdair Ford , Elizabeth Fleming , Su De Department of Otolaryngology, Arrowe Park Hospital, Birkenhead, United Kingdom (TK) Department of Otolaryngology, Alder Hey Children's Hospital, Liverpool, United Kingdom (AF, EF, SD) ORCID iDs of the authors: T.K. 0000-0002-8407-3818; A.F. 0000-0002-2467-3547; E.F. 0000-0002-9519-2687; S.D. 0000-0003-0442-6781. Cite this article as: Kanzara T, Ford A, Fleming E, De S. Hearing Aid Uptake in Children with Unilateral Microtia and Canal Atresia: A Comparison between a Tertiary Center and Peripheral Centers. J Int Adv Otol 2020; 16(1): 73-6. OBJECTIVES: To review the trialing and uptake of hearing aids in children with unilateral microtia or canal atresia, known collectively as congenital unilateral conductive hearing loss (CUCHL), observed in a tertiary hospital and local peripheral services. MATERIALS and METHODS: A retrospective review of medical records for patients with CUCHL was conducted using data from a shared audiol- ogy database at a tertiary children’s hospital. RESULTS: We identified 45 patients with CUCHL and excluded seven of them due to missing data. Of the 38 patients, 16 (16/38, 42%) did not have any subjective hearing complaints. Furthermore, 32% (12/38) of patients attended audiology at a tertiary centre and 83% (10/12) from this group trialled a hearing aid. In comparison, 46% (12/46) whose audiology care was delivered peripherally trialled aiding. -
Syndromic Ear Anomalies and Renal Ultrasounds
Syndromic Ear Anomalies and Renal Ultrasounds Raymond Y. Wang, MD*; Dawn L. Earl, RN, CPNP‡; Robert O. Ruder, MD§; and John M. Graham, Jr, MD, ScD‡ ABSTRACT. Objective. Although many pediatricians cific MCA syndromes that have high incidences of renal pursue renal ultrasonography when patients are noted to anomalies. These include CHARGE association, Townes- have external ear malformations, there is much confusion Brocks syndrome, branchio-oto-renal syndrome, Nager over which specific ear malformations do and do not syndrome, Miller syndrome, and diabetic embryopathy. require imaging. The objective of this study was to de- Patients with auricular anomalies should be assessed lineate characteristics of a child with external ear malfor- carefully for accompanying dysmorphic features, includ- mations that suggest a greater risk of renal anomalies. We ing facial asymmetry; colobomas of the lid, iris, and highlight several multiple congenital anomaly (MCA) retina; choanal atresia; jaw hypoplasia; branchial cysts or syndromes that should be considered in a patient who sinuses; cardiac murmurs; distal limb anomalies; and has both ear and renal anomalies. imperforate or anteriorly placed anus. If any of these Methods. Charts of patients who had ear anomalies features are present, then a renal ultrasound is useful not and were seen for clinical genetics evaluations between only in discovering renal anomalies but also in the diag- 1981 and 2000 at Cedars-Sinai Medical Center in Los nosis and management of MCA syndromes themselves. Angeles and Dartmouth-Hitchcock Medical Center in A renal ultrasound should be performed in patients with New Hampshire were reviewed retrospectively. Only pa- isolated preauricular pits, cup ears, or any other ear tients who underwent renal ultrasound were included in anomaly accompanied by 1 or more of the following: the chart review. -
Evaluation of Fetal Orbits and Ears
Evaluation of Fetal Orbits and Ears Maria A. Calvo-Garcia, MD. Associate Professor of Radiology Cincinnati Children’s Hospital Medical Center Disclosure • I have no disclosures Goals & Objectives • Review basic US anatomic views for the evaluation of the orbits and ears • Describe some of the major malformations involving the orbits and ears Background on Facial Abnormalities • Important themselves • May also indicate an underlying problem – Chromosome abnormality/ Syndromic conditions Background on Facial Abnormalities • Assessment of the face is included in all standard fetal anatomic surveys • Recheck the face if you found other anomalies • And conversely, if you see facial anomalies look for other systemic defects Background on Facial Abnormalities • Fetal chromosomal analysis is often indicated • Fetal MRI frequently requested in search for additional malformations • US / Fetal MRI, as complementary techniques: information for planning delivery / neonatal treatment • Anatomic evaluation • Malformations (orbits, ears) Orbits Axial View • Bony orbits: IOD Orbits Axial View • Bony orbits: IOD and BOD, which correlates with GA, will allow detection of hypo-/ hypertelorism Orbits Axial View • Axial – Bony orbits – Intraorbital anatomy: • Globe • Lens Orbits Axial View • Axial – Bony orbits – Intraorbital anatomy: • Globe • Lens Orbits Axial View • Hyaloid artery is seen as an echogenic line bisecting the vitreous • By the 8th month the hyaloid system involutes – If this fails: persistent hyperplastic primary vitreous Malformations of -
Otoplasty and External Ear Reconstruction
Medical Coverage Policy Effective Date ............................................. 4/15/2021 Next Review Date ....................................... 4/15/2022 Coverage Policy Number .................................. 0335 Otoplasty and External Ear Reconstruction Table of Contents Related Coverage Resources Overview .............................................................. 1 Cochlear and Auditory Brainstem Implants Coverage Policy ................................................... 1 Prosthetic Devices General Background ............................................ 2 Hearing Aids Medicare Coverage Determinations .................... 5 Scar Revision Coding/Billing Information .................................... 5 References .......................................................... 6 INSTRUCTIONS FOR USE The following Coverage Policy applies to health benefit plans administered by Cigna Companies. Certain Cigna Companies and/or lines of business only provide utilization review services to clients and do not make coverage determinations. References to standard benefit plan language and coverage determinations do not apply to those clients. Coverage Policies are intended to provide guidance in interpreting certain standard benefit plans administered by Cigna Companies. Please note, the terms of a customer’s particular benefit plan document [Group Service Agreement, Evidence of Coverage, Certificate of Coverage, Summary Plan Description (SPD) or similar plan document] may differ significantly from the standard benefit plans upon which -
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. -
A Novel De Novo Mutation in MYT1, the Unique OAVS Gene Identified So
European Journal of Human Genetics (2017) 25, 1083–1086 & 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved 1018-4813/17 www.nature.com/ejhg SHORT REPORT Anovelde novo mutation in MYT1, the unique OAVS gene identified so far Marie Berenguer1, Angele Tingaud-Sequeira1, Mileny Colovati2, Maria I Melaragno2, Silvia Bragagnolo2, Ana BA Perez2, Benoit Arveiler1,3, Didier Lacombe1,3 and Caroline Rooryck*,1,3 Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity. Recently, MYT1, encoding the myelin transcription factor 1, was reported as the first gene involved in OAVS, within the retinoic acid (RA) pathway. Fifty-seven OAVS patients originating from Brazil were screened for MYT1 variants. A novel de novo missense variant affecting function, c.323C4T (p. (Ser108Leu)), was identified in MYT1, in a patient presenting with a severe form of OAVS. Functional studies showed that MYT1 overexpression downregulated all RA receptors genes (RARA, RARB, RARG), involved in RA-mediated transcription, whereas no effect was observed on CYP26A1 expression, the major enzyme involved in RA degradation, Moreover, MYT1 variants impacted significantly the expression of these genes, further supporting their pathogenicity. In conclusion, a third variant affecting function in MYT1 was identified as a cause of OAVS. Furthermore, we confirmed MYT1 connection to RA signaling pathway. European Journal of Human Genetics (2017) 25, 1083–1086; doi:10.1038/ejhg.2017.101; published online 14 June 2017 INTRODUCTION ID 00095945 and 00095942, 00095943/00095955 for variants previously Oculo-auriculo-vertebral spectrum (OAVS) is a developmental dis- described2). -
Date Due Date Due Date Due
PLACE ll RETURN BOX to roman this chockout from your mood. TO AVOID FINES Mom on or baton dd. duo. DATE DUE DATE DUE DATE DUE MSU In An Affirmative Action/Equal Opponfirmy Inflation mm: SCREENING FOR MUTATIONS IN PAX3 AND MITF IN WAARDENBURG SYNDROME AND WAARDENBURG SYNDROME-LIKE INDIVIDUALS By Melisa Lynn Carey A THESIS Submitted to Michigan State University in partial fulfillment of the requirements for a degree of MASTER OF SCIENCE Department of Zoology 1 996 ABSTRACT SCREENING FOR MUTATIONS IN PAX3 AND MITF IN WAARDENBURG SYNDROME AND WAARDENBURG SYNDROME-LIKE INDIVIDUALS BY Melisa L. Carey Waardenburg Syndrome (WS) is an autosomal dominant disorder characterized by pigmentary and facial anomalies and congenital deafness. Mutations causing WS have been reported in PAX3 and MITF. The goal of this study was to characterize the molecular defects in 33 unrelated WS individuals. Mutation detection was performed using Single Strand Conformational Polymorphism (SSCP) analysis and sequencing methods. Among the 33 WS individuals, a total of eight mutations were identified, seven in PAX3 and one in MITF. In this study, one of the eight mutations was identified and characterized in PAX3 exon seven in a WSI family (UoM1). The proband of UoM1 also has Septo-Optic Dysplasia. In a large family (MSU22) with WS-Iike dysmorphology and additional craniofacial anomalies, linkage was excluded to PAX3 and no mutations were identified in MITF. Herein I review the status of mutation detection in our proband screening set and add to the understanding of the role of PAX3 and MITF in development by exploring new phenotypic characteristics associated with WS. -
(12) United States Patent (10) Patent No.: US 8,853,266 B2 Dalton Et Al
USOO8853266B2 (12) United States Patent (10) Patent No.: US 8,853,266 B2 Dalton et al. (45) Date of Patent: *Oct. 7, 2014 (54) SELECTIVE ANDROGEN RECEPTOR 3,875,229 A 4, 1975 Gold MODULATORS FOR TREATING DABETES 4,036.979 A 7, 1977 Asato 4,139,638 A 2f1979 Neri et al. 4,191,775 A 3, 1980 Glen (75) Inventors: James T. Dalton, Upper Arlington, OH 4,239,776 A 12/1980 Glen et al. (US): Duane D. Miller, Germantown, 4,282,218 A 8, 1981 Glen et al. TN (US) 4,386,080 A 5/1983 Crossley et al. 4411,890 A 10/1983 Momany et al. (73) Assignee: University of Tennessee Research 4,465,507 A 8/1984 Konno et al. F dati Kn ille, TN (US) 4,636,505 A 1/1987 Tucker Oundation, Knoxv1lle, 4,880,839 A 1 1/1989 Tucker 4,977,288 A 12/1990 Kassis et al. (*) Notice: Subject to any disclaimer, the term of this 5,162,504 A 11/1992 Horoszewicz patent is extended or adjusted under 35 5,179,080 A 1/1993 Rothkopfet al. U.S.C. 154(b) by 992 days. 5,441,868 A 8, 1995 Lin et al. 5,547.933 A 8, 1996 Lin et al. This patent is Subject to a terminal dis- 5,609,849 A 3/1997 Kung claimer. 5,612,359 A 3/1997 Murugesan et al. 5,618,698 A 4/1997 Lin et al. 5,621,080 A 4/1997 Lin et al. (21) Appl. No.: 11/785,064 5,656,651 A 8/1997 Sovak et al. -
EUROCAT Syndrome Guide
JRC - Central Registry european surveillance of congenital anomalies EUROCAT Syndrome Guide Definition and Coding of Syndromes Version July 2017 Revised in 2016 by Ingeborg Barisic, approved by the Coding & Classification Committee in 2017: Ester Garne, Diana Wellesley, David Tucker, Jorieke Bergman and Ingeborg Barisic Revised 2008 by Ingeborg Barisic, Helen Dolk and Ester Garne and discussed and approved by the Coding & Classification Committee 2008: Elisa Calzolari, Diana Wellesley, David Tucker, Ingeborg Barisic, Ester Garne The list of syndromes contained in the previous EUROCAT “Guide to the Coding of Eponyms and Syndromes” (Josephine Weatherall, 1979) was revised by Ingeborg Barisic, Helen Dolk, Ester Garne, Claude Stoll and Diana Wellesley at a meeting in London in November 2003. Approved by the members EUROCAT Coding & Classification Committee 2004: Ingeborg Barisic, Elisa Calzolari, Ester Garne, Annukka Ritvanen, Claude Stoll, Diana Wellesley 1 TABLE OF CONTENTS Introduction and Definitions 6 Coding Notes and Explanation of Guide 10 List of conditions to be coded in the syndrome field 13 List of conditions which should not be coded as syndromes 14 Syndromes – monogenic or unknown etiology Aarskog syndrome 18 Acrocephalopolysyndactyly (all types) 19 Alagille syndrome 20 Alport syndrome 21 Angelman syndrome 22 Aniridia-Wilms tumor syndrome, WAGR 23 Apert syndrome 24 Bardet-Biedl syndrome 25 Beckwith-Wiedemann syndrome (EMG syndrome) 26 Blepharophimosis-ptosis syndrome 28 Branchiootorenal syndrome (Melnick-Fraser syndrome) 29 CHARGE -
Lessons Learned
Prevention and Reversal of Chronic Disease Copyright © 2019 RN Kostoff PREVENTION AND REVERSAL OF CHRONIC DISEASE: LESSONS LEARNED By Ronald N. Kostoff, Ph.D., School of Public Policy, Georgia Institute of Technology 13500 Tallyrand Way, Gainesville, VA, 20155 [email protected] KEYWORDS Chronic disease prevention; chronic disease reversal; chronic kidney disease; Alzheimer’s Disease; peripheral neuropathy; peripheral arterial disease; contributing factors; treatments; biomarkers; literature-based discovery; text mining ABSTRACT For a decade, our research group has been developing protocols to prevent and reverse chronic diseases. The present monograph outlines the lessons we have learned from both conducting the studies and identifying common patterns in the results. The main product of our studies is a five-step treatment protocol to reverse any chronic disease, based on the following systemic medical principle: at the present time, removal of cause is a necessary, but not necessarily sufficient, condition for restorative treatment to be effective. Implementation of the five-step treatment protocol is as follows: FIVE-STEP TREATMENT PROTOCOL TO REVERSE ANY CHRONIC DISEASE Step 1: Obtain a detailed medical and habit/exposure history from the patient. Step 2: Administer written and clinical performance and behavioral tests to assess the severity of symptoms and performance measures. Step 3: Administer laboratory tests (blood, urine, imaging, etc) Step 4: Eliminate ongoing contributing factors to the chronic disease Step 5: Implement treatments for the chronic disease This individually-tailored chronic disease treatment protocol can be implemented with the data available in the biomedical literature now. It is general and applicable to any chronic disease that has an associated substantial research literature (with the possible exceptions of individuals with strong genetic predispositions to the disease in question or who have suffered irreversible damage from the disease). -
Chiari I Malformation in Patients with Pfeiffer Syndrome
Hong Kong J Radiol. 2012;15:247-51 CASE REPORt Chiari i Malformation in Patients with Pfeiffer Syndrome: important Aspects of Preoperative imaging JJK ip, PKt Hui, WWM lam, Mt Chau Department of Radiology, Queen Mary Hospital, Pokfulam, Hong Kong ABStRACt Chiari I malformation may not be congenital, but may be acquired as a consequence of skull deformities and other associated intracranial factors in patients with craniosynostosis. Pfeiffer syndrome is one of the many conditions associated with Chiari I malformation. Premature fusion of multiple cranial sutures and cloverleaf skull (kleeblattschädel deformity) are often observed in the calvaria of patients with Pfeiffer syndrome. This report is of a male infant, with Pfeiffer syndrome who was noted to have progressive Chiari I malformation, with classical imaging features illustrated. Important aspects of preoperative imaging will be discussed, with a brief review of literature. Key Words: Acrocephalosyndactylia; Arnold-Chiari malformation; Cerebral veins; Craniosynostoses 中文摘要 Pfeiffer綜合症患者的Chiari I型畸形:術前影像的重要性 葉精勤、許其達、林慧文、周明德 Chiari I型畸形不一定是先天性的病患,它可以是頭骨畸形以及因顱縫早閉而引致有關顱內其他相 關症狀的結果。Pfeiffer綜合症是與Chiari I型畸形眾多相關病症的其中一種。Pfeiffer綜合症患者的顱 蓋骨普遍出現多個顱縫的提早融合與三葉草顱綜合症(kleeblattschädel畸形)。本文報告一名患有 Pfeiffer綜合症的男嬰出現進行性Chiari I型畸形的典型影像,並會討論術前的影像及簡要回顧文獻。 intRODUCtiOn neurological and cognitive defects, and may die at a Pfeiffer syndrome is associated with premature young age. fusion of multiple cranial sutures, cloverleaf skull (kleeblattschädel deformity), prominent ptosis, thumb It is well recognised