DOCSLIB.ORG

Registry Based Study on Over One Million Births 455

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Registry Based Study on Over One Million Births 455 JMed Genet 1995;32:453-457 453 Epidemiology and genetics of microtia-anotia: a on over one million births registry based study J Med Genet: first published as 10.1136/jmg.32.6.453 on 1 June 1995. Downloaded from Pierpaolo Mastroiacovo, Carlo Corchia, Lorenzo D Botto, Roberta Lanni, Giuseppe Zampino, Danilo Fusco Abstract is usually part of a specific pattern of multiple The epidemiology and genetics of mi- congenital anomalies. For instance, M-A is an crotia-anotia (M-A) were studied using essential component of isotretinoin embryo- data collected from the Italian Multicentre pathy, an important manifestation of tha- Birth Defects Registry (IPIMC) from 1983 lidomide embryopathy, and can be also part of to 1992. Among 1 173 794 births, we iden- the prenatal alcohol syndrome and maternal tified 172 with M-A, a rate of 1-46110 000; diabetes embryopathy. M-A has also been re- 38 infants (22.1%) had anotia. Of the 172 ported in a number of single gene disorders, infants, 114 (66-2%) had an isolated defect, such as Treacher Collins syndrome, or chro- 48 (27-9%) were multiformed infants mosomal syndromes (for example, trisomy 18). (NMM) with M-A, and 10 (5.8%) had a Even when the cause is unknown, M-A has well defined syndrome. The frequency of been described in seemingly non-random pat- bilateral defects among non-syndromic terns of multiple defects, such as the oculo- cases was 12% compared to 50% of syn- auricolovertebral phenotype (OAV), whose dromic cases (p = 0.007). Among the MMI aetiology and pathogenesis, presumably het- only holoprosencephaly was preferentially erogeneous, have yet to be elucidated, and in associated with M-A (four cases observed association with either cervical spine fusion v 0-7 expected, p=0.005). No significant (not necessarily part of the OAV phenotype) or variations were identified in the pre- renal malformations. valence of non-syndromic cases by geo- The epidemiology of M-A has not been ad- graphical area (range 0-62-2-37/10 000 equately studied, with most studies reporting births) or by five month time periods little more than the prevalence at birth,l" or (range 0-21-2-58/10 000 births), nor was giving data for all external ear defects.5 Only one there evidence of time trends. When M-A study, to our knowledge, has given a complete cases were compared to controls, we found picture of the classical epidemiological features that mothers with parity 1 had a higher of M-A as the frequency distribution by time, risk of giving birth to an MMI with M-A, place, and affected subjects.6 http://jmg.bmj.com/ and that mothers with chronic maternal We have used the Italian Multicentre Birth insulin dependent diabetes were at sig- Defects Registry (IPMC) data collected on over nificantly higher risk for having a child one million births to describe the epidemio- with M-A. MMI with M-A had higher rates logical and genetic features of M-A and to of prematurity, low birth weight, reduced explore potential relationships between en- intrauterine growth, and neonatal mor- vironmental, maternal, and infant character- tality than infants with isolated M-A and istics and the occurrence of M-A as an isolated controls. Babies with isolated M-A had, defect and in association with unrelated major on September 24, 2021 by guest. Protected copyright. on average, a lower birth weight than con- malformations. trols; the difference was higher for fe- males. The analysis of pedigrees and Birth Defects Unit, familial cases suggests an autosomal dom- Subjects and methods Department of inant trait with variable expression and We ascertained cases with M-A through the Paediatrics, Catholic incomplete penetrance in a proportion of IPIMC, a hospital based birth defects registry, University, Largo A Gemelli 8, 00168 cases, or a multifactorial aetiology. Three active since 1978, that ascertains defects in the Rome, Italy cases had consanguineous parents, but the neonatal period. IPIMC monitors 110 000 P Mastroiacovo absence of M-A among previous sibs does births annually (20% of births in Italy), from G Zampino not support autosomal recessive in- over 100 hospitals located throughout the L D Botto heritance. country. The registry and its methodology are Department of described in detail elsewhere.78 In short, all Paediatrics and (J Med Genet 1995;32:453-457) liveborns and stillborns with an anatomical Neonatology, University of Sassari, defect diagnosed in the first days of life are Italy registered. The notification form is completed C Corchia Microtia and anotia (M-A) are malformations by the paediatrician or neonatologist in charge ICARO-ASM, Rome, of the auricle ranging from a measurably small of the registry in the hospital where the diag- Italy external ear with minimal structural ab- nosis is made and includes detailed demo- R Lanni normality, to an ear with major structural al- graphic, clinical, and diagnostic data, and D Fusco teration, to total absence of the ear.' medical history, including exposure during the Correspondence to: M-A can occur either as an isolated defect prenatal period (for example, drugs, smoking, Dr Mastroiacovo. or in association with other defects. Only in a alcohol, etc). The physician's report may in- Received 26 July 1994 Revised version accepted for minority ofcases has a genetic or environmental clude photographs, x rays, drawings, and clin- publication 16 January 1995 cause for M-A been found; in these cases M-A ical, laboratory, or pathology reports. 454 Mastroiacovo, Corchia, Botto, Lanni, Zampino, Fusco At the IPIMC coordination centre, each form The temporal and spatial distribution of non- is first reviewed by a paediatrician trained in syndromic cases was analysed by five month dysmorphology and then transferred to a com- periods and by 16 geographical places of birth, puterised file; the description of the defect is respectively. The five month periods and the J Med Genet: first published as 10.1136/jmg.32.6.453 on 1 June 1995. Downloaded from entered verbatim. For ease of retrieval, a three 16 areas were chosen to define temporal or digit code is assigned to each defect or se- spatial units with nearly 50 000 births. quence. Sequences (pathogenetically related To study the associations with possible risk defects) are coded as one defect: examples factors, all non-malformed infants notified to include the combination of spina bifida plus the registry with minor or trivial defects (for hydrocephalus and/or limb deformities, and example, single palmar crease, epicanthus, M-A with a combination of preauricular tags, small haemangioma), excluding those with pre- meatal atresia, and ipsilateral mandibular hypo- auricular tags, were used as controls. Overall, plasia. Multimalformed infants (MMI) are de- the control material did not differ from the fined as infants presenting two or more major general Italian population by sex, birth weight, unrelated defects or sequences, not part of a gestational age, maternal age, and maternal well defined syndrome. education distributions. For each case four con- For the present study we reviewed all records trols were selected, matched by region and year of cases with M-A born from 1983 to 1992 of birth. among 1 173 794 consecutive births. The mother's type of residence was defined The following working classification was as urban when the residence was in county used. towns. Maternal education was used as an Microtia type 1: small auricle with a straight- indicator of socioeconomic class.'2 Three cat- forward abnormal shape, usually associated egories were used: low (less than high school with meatal atresia (fig 1). This group includes graduates), medium (high school graduates), only the severest cases of microtia type I of and high (university graduates). Small for gest- Marx's widely used classification.'9 ational age infants were those with a birth Microtia type 2: severe anomaly ofthe external weight under the 10th centile for gestational ear with a more or less irregular longitudinal age.'3 mass of cartilage (fig 2). This group includes x2 test, Fisher's exact test, and t test were microtia type II and III ofMarx's classification. used for statistical analysis. Anotia: complete or almost complete absence of the external ear. It includes microtia type IV of Marx's classification. Affected cases were further categorised as: (1) isolated (only M-A); (2) MMI; (3) syn- dromic when the cause, environmental or gen- etic, was identified. Infants with the OAV phenotype were included among the MMI http://jmg.bmj.com/ since its aetiology is unknown, its clinical defin- ition is unclear, and the phenotypic spectrum may include isolated M-A. To identify defects that are associated spe- cifically with M-A (non-random or preferential associations'0), the observed number of oc- currences was compared to the expected num- ber using the observed to expected (O/E) ratio. on September 24, 2021 by guest. Protected copyright. To compute the expected number of oc- currences the method suggested by Khoury et al" was used. .6 lZ.4,g.t- Figure 1 Microtia type 1. Figure 2 Microtia type 2. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births 455 Results LATERALITY From 1983 to 1992, 172 infants with M-A Information on laterality of M-A was available were ascertained in IPIMC. for 156 of the 172 infants. Of the 156 cases, 133 (85 3%) had unilateral M-A (76 or 57 1% J Med Genet: first published as 10.1136/jmg.32.6.453 on 1 June 1995. Downloaded from on the right side and 57 or 42-9% on the left). TYPE OF M-A AND CLINICAL DIAGNOSIS Twenty-three cases (14 7%) had bilateral M-A, Table 1 gives the distribution of cases by M-A though the anomaly was not invariably of the and clinical diagnosis.
Load more

Recommended publications
  • Otocephaly: Agnathia-Microstomia-Synotia Syndrome Tanya Kitova1, Borislav D Kitov2
    CASE REPORT Otocephaly: Agnathia-Microstomia-Synotia Syndrome Tanya Kitova1, Borislav D Kitov2 ABSTRACT The aim of the study is to present otocephaly, which is a rare congenital lethal malformation. Until this moment, only a little bit more than 100 cases worldwide were reported, and only 22 cases of prediagnosed otocephaly. Background: Otocephaly or agnathia-microstomia-synotia syndrome (SAMS) is characterized by agenesis of mandible (agnathia), disposition or fusion of the auricle (synotia), microstomia, and complete or partial lack of language (aglossia), which often ends up lethal. Case description: A 499.7 g male fetus was obtained after a therapeutic abortion during the 23rd gestational week at the Center for Maternity and Neonatology, Embryo-fetopathology Clinic, Tunis, Tunisia. The mother is an 18-year-old with close relative marriage with first-degree incest, primigravida. Examination of the fetus revealed microcephaly with craniosynostosis, hypertelorism, closed eyelid exophthalmos, one nostril, point microstomia, mandibular agenesis, bilateral, and auditory cysts of neck. The ears are located at the level of the neck. A study of the brain and the base of the skull revealed holoprosencephaly and sphenoid bone agenesis. There are no internal organ abnormalities. Conclusion: In cases where, at the end of the second trimester of pregnancy, polyhydramnios is detected, inability to visualize the mandible, and malposition of ears, otocephaly should be suspected. In these cases, the decision to interrupt pregnancy should be taken by a multidisciplinary team, after an magnetic resonance imaging, which is much better in visualizing location of the ears and other facial malformations and the presence of other associated anomalies.
    [Show full text]
  • 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.
    [Show full text]
  • Bedside Neuro-Otological Examination and Interpretation of Commonly
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.2004.054478 on 24 November 2004. Downloaded from BEDSIDE NEURO-OTOLOGICAL EXAMINATION AND INTERPRETATION iv32 OF COMMONLY USED INVESTIGATIONS RDavies J Neurol Neurosurg Psychiatry 2004;75(Suppl IV):iv32–iv44. doi: 10.1136/jnnp.2004.054478 he assessment of the patient with a neuro-otological problem is not a complex task if approached in a logical manner. It is best addressed by taking a comprehensive history, by a Tphysical examination that is directed towards detecting abnormalities of eye movements and abnormalities of gait, and also towards identifying any associated otological or neurological problems. This examination needs to be mindful of the factors that can compromise the value of the signs elicited, and the range of investigative techniques available. The majority of patients that present with neuro-otological symptoms do not have a space occupying lesion and the over reliance on imaging techniques is likely to miss more common conditions, such as benign paroxysmal positional vertigo (BPPV), or the failure to compensate following an acute unilateral labyrinthine event. The role of the neuro-otologist is to identify the site of the lesion, gather information that may lead to an aetiological diagnosis, and from there, to formulate a management plan. c BACKGROUND Balance is maintained through the integration at the brainstem level of information from the vestibular end organs, and the visual and proprioceptive sensory modalities. This processing takes place in the vestibular nuclei, with modulating influences from higher centres including the cerebellum, the extrapyramidal system, the cerebral cortex, and the contiguous reticular formation (fig 1).
    [Show full text]
  • Diseases of the Digestive System (KOO-K93)
    CHAPTER XI Diseases of the digestive system (KOO-K93) Diseases of oral cavity, salivary glands and jaws (KOO-K14) lijell Diseases of pulp and periapical tissues 1m Dentofacial anomalies [including malocclusion] Excludes: hemifacial atrophy or hypertrophy (Q67.4) K07 .0 Major anomalies of jaw size Hyperplasia, hypoplasia: • mandibular • maxillary Macrognathism (mandibular)(maxillary) Micrognathism (mandibular)( maxillary) Excludes: acromegaly (E22.0) Robin's syndrome (087.07) K07 .1 Anomalies of jaw-cranial base relationship Asymmetry of jaw Prognathism (mandibular)( maxillary) Retrognathism (mandibular)(maxillary) K07.2 Anomalies of dental arch relationship Cross bite (anterior)(posterior) Dis to-occlusion Mesio-occlusion Midline deviation of dental arch Openbite (anterior )(posterior) Overbite (excessive): • deep • horizontal • vertical Overjet Posterior lingual occlusion of mandibular teeth 289 ICO-N A K07.3 Anomalies of tooth position Crowding Diastema Displacement of tooth or teeth Rotation Spacing, abnormal Transposition Impacted or embedded teeth with abnormal position of such teeth or adjacent teeth K07.4 Malocclusion, unspecified K07.5 Dentofacial functional abnormalities Abnormal jaw closure Malocclusion due to: • abnormal swallowing • mouth breathing • tongue, lip or finger habits K07.6 Temporomandibular joint disorders Costen's complex or syndrome Derangement of temporomandibular joint Snapping jaw Temporomandibular joint-pain-dysfunction syndrome Excludes: current temporomandibular joint: • dislocation (S03.0) • strain (S03.4) K07.8 Other dentofacial anomalies K07.9 Dentofacial anomaly, unspecified 1m Stomatitis and related lesions K12.0 Recurrent oral aphthae Aphthous stomatitis (major)(minor) Bednar's aphthae Periadenitis mucosa necrotica recurrens Recurrent aphthous ulcer Stomatitis herpetiformis 290 DISEASES OF THE DIGESTIVE SYSTEM Diseases of oesophagus, stomach and duodenum (K20-K31) Ill Oesophagitis Abscess of oesophagus Oesophagitis: • NOS • chemical • peptic Use additional external cause code (Chapter XX), if desired, to identify cause.
    [Show full text]
  • Congenital Upper Auricular Detachment: Report of Two Unusual Cases
    Published online: 2020-01-15 Free full text on www.ijps.org DOI: 10.4103/0970-0358.59298 Case Report Congenital upper auricular detachment: Report of two unusual cases Pawan Agarwal Plastic Surgery Unit, Department of Surgery, Netaji Subhash Chandra Bose Government Medical College, Jabalpur-482 003, MP, India Address for correspondence: Dr. Pawan Agarwal, 292/293 Napier Town, Jabalpur-482 001, MP, India. E-mail: [email protected] ABSTRACT Two unusual cases of congenital bilateral ear deformity have been presented. The deformity is characterized by upper auricular detachment on the right side with anotia on the left side in the first case and upper auricular detachment on the left side with normal ear on the right side in the second case. An attempt has been made to correlate the presented deformity with the embryological – foetal development of the auricle. Satisfactory correction can be obtained by repositioning the auricle back in to its normal position. KEY WORDS Congenital ear anomaly; partial auricular; detachment; upper auricular; anomalier INTRODUCTION CASE REPORTS wide variety of congenital auricular malformations Case 1 are described in literature. These include anotia, A six- year-old boy presented with congenital anomaly microtia, prominent ear, lop ear, cup ear, cryptotia of both auricles. Obstetric history was normal; patient A was full term and normally delivered with no history of and Stahl’s ear. In this article we describe two rare cases of auricular malformation; probably the second birth trauma. The pregnancy was also uneventful with case report in the English literature. Although all the no history of any teratogenic exposure.
    [Show full text]
  • WES Gene Package Multiple Congenital Anomalie.Xlsx
    Whole Exome Sequencing Gene package Multiple congenital anomalie, version 5, 1‐2‐2018 Technical information DNA was enriched using Agilent SureSelect Clinical Research Exome V2 capture and paired‐end sequenced on the Illumina platform (outsourced). The aim is to obtain 8.1 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate reads are excluded. Data are demultiplexed with bcl2fastq Conversion Software from Illumina. Reads are mapped to the genome using the BWA‐MEM algorithm (reference: http://bio‐bwa.sourceforge.net/). Variant detection is performed by the Genome Analysis Toolkit HaplotypeCaller (reference: http://www.broadinstitute.org/gatk/). The detected variants are filtered and annotated with Cartagenia software and classified with Alamut Visual. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered % covered gene symbol gene ID >10x >20x >30x A4GALT [Blood group, P1Pk system, P(2) phenotype], 111400 607922 101 100 100 99 [Blood group, P1Pk system, p phenotype], 111400 NOR polyagglutination syndrome, 111400 AAAS Achalasia‐addisonianism‐alacrimia syndrome, 231550 605378 73 100 100 100 AAGAB Keratoderma, palmoplantar,
    [Show full text]
  • 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
    [Show full text]
  • 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
    [Show full text]
  • Abstracts from the 51St European Society of Human Genetics Conference: Electronic Posters
    European Journal of Human Genetics (2019) 27:870–1041 https://doi.org/10.1038/s41431-019-0408-3 MEETING ABSTRACTS Abstracts from the 51st European Society of Human Genetics Conference: Electronic Posters © European Society of Human Genetics 2019 June 16–19, 2018, Fiera Milano Congressi, Milan Italy Sponsorship: Publication of this supplement was sponsored by the European Society of Human Genetics. All content was reviewed and approved by the ESHG Scientific Programme Committee, which held full responsibility for the abstract selections. Disclosure Information: In order to help readers form their own judgments of potential bias in published abstracts, authors are asked to declare any competing financial interests. Contributions of up to EUR 10 000.- (Ten thousand Euros, or equivalent value in kind) per year per company are considered "Modest". Contributions above EUR 10 000.- per year are considered "Significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal Genetics then compared this data to de novo cases where research based PO studies were completed (N=57) in NY. E-P01.01 Results: MFSIQ (66.4) for familial deletions was Parent of origin in familial 22q11.2 deletions impacts full statistically lower (p = .01) than for de novo deletions scale intelligence quotient scores (N=399, MFSIQ=76.2). MFSIQ for children with mater- nally inherited deletions (63.7) was statistically lower D. E. McGinn1,2, M. Unolt3,4, T. B. Crowley1, B. S. Emanuel1,5, (p = .03) than for paternally inherited deletions (72.0). As E. H. Zackai1,5, E. Moss1, B. Morrow6, B. Nowakowska7,J. compared with the NY cohort where the MFSIQ for Vermeesch8, A.
    [Show full text]
  • Examining Conductive & Sensorineural Loss
    Sacred Heart University DigitalCommons@SHU Speech-Language Pathology Faculty Publications Speech-Language Pathology Spring 2017 An Introduction to Hearing Loss: Examining Conductive & Sensorineural Loss Jamie F. Marotto Sacred Heart University, [email protected] Follow this and additional works at: http://digitalcommons.sacredheart.edu/speech_fac Part of the Communication Sciences and Disorders Commons Recommended Citation Marotto, J.F. (2017). An introduction to hearing loss: Examining conductive & sensorineural loss, presented at 30th Charter Oak Conference, Groton, Connecticut. This Presentation is brought to you for free and open access by the Speech-Language Pathology at DigitalCommons@SHU. It has been accepted for inclusion in Speech-Language Pathology Faculty Publications by an authorized administrator of DigitalCommons@SHU. For more information, please contact [email protected], [email protected]. An Introduction to Hearing Loss: Examining Conductive & Sensorineural Loss Presented by: Jamie F. Marotto, Au.D., CCC-A Clinical Assistant Professor Department of Speech-Language Pathology Sacred Heart University Learning Objectives • To understand the profession of Audiology: what we can diagnose and treat • To learn how to ask hearing-related case history questions • To learn how to read all parts of an audiogram and to understand the associated terminology • To understand the difference between subjective and objective hearing- related assessments • To understand the difference between the various types and degrees of hearing loss and the associated terminology • To have a basic understanding of how specific etiologies might present on the audiogram The Profession of Audiology • The inception of Audiology as a profession took place after World War II when several military personnel required services for the hearing problems they incurred during the war.
    [Show full text]
  • Treatments for Ankyloglossia and Ankyloglossia with Concomitant Lip-Tie Comparative Effectiveness Review Number 149
    Comparative Effectiveness Review Number 149 Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie Comparative Effectiveness Review Number 149 Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie Prepared for: Agency for Healthcare Research and Quality U.S. Department of Health and Human Services 540 Gaither Road Rockville, MD 20850 www.ahrq.gov Contract No. 290-2012-00009-I Prepared by: Vanderbilt Evidence-based Practice Center Nashville, TN Investigators: David O. Francis, M.D., M.S. Sivakumar Chinnadurai, M.D., M.P.H. Anna Morad, M.D. Richard A. Epstein, Ph.D., M.P.H. Sahar Kohanim, M.D. Shanthi Krishnaswami, M.B.B.S., M.P.H. Nila A. Sathe, M.A., M.L.I.S. Melissa L. McPheeters, Ph.D., M.P.H. AHRQ Publication No. 15-EHC011-EF May 2015 This report is based on research conducted by the Vanderbilt Evidence-based Practice Center (EPC) under contract to the Agency for Healthcare Research and Quality (AHRQ), Rockville, MD (Contract No. 290-2012-00009-I). The findings and conclusions in this document are those of the authors, who are responsible for its contents; the findings and conclusions do not necessarily represent the views of AHRQ. Therefore, no statement in this report should be construed as an official position of AHRQ or of the U.S. Department of Health and Human Services. The information in this report is intended to help health care decisionmakers—patients and clinicians, health system leaders, and policymakers, among others—make well-informed decisions and thereby improve the quality of health care services. This report is not intended to be a substitute for the application of clinical judgment.
    [Show full text]
  • Head and Neck Congenital Malformations
    ActaM. Kos clin Croat 2004; 43:195-201 Head and neck congenitalConference malformations papers HEAD AND NECK CONGENITAL MALFORMATIONS Marina Kos Ljudevit Jurak University Department of Pathology, Sestre milosrdnice University Hospital, Zagreb, Croatia SUMMARY Congenital malformations of the head and neck are a wide and extremely heterogeneous group because this region contains parts of almost all organ systems. These malformations range in their importance and severity from purely cosmetic defects and minor disturbances to lethal anomalies. They can be isolated or occur as a component of a sequence, syndrome or chromosomal disorder. Some of them are inherited, however, most of them are caused by frequently unidentified teratogens. Key words: Abnormalities multiple; Head; Neck; Nervous system malformations; Musculoskeletal abnormalities; Chro- mosome disorders Introduction priate than branchial in the context of human embryolo- gy3. The arches are composed of mesoderm that originates When writing about congenital malformations of the almost entirely from two sources: the para-axial mesoderm head and neck, it is impossible not to mention their em- and the neural crest. Every arch contains the following bryological development. The most typical feature in the structures: (a) a core of cartilage derived from neural crest development of the head and neck is formed by the pha- cells; (b) unsegmented mesoderm capable of forming stri- ryngeal or branchial arches. The pharyngeal arches are ated muscle and bone; (c) an artery that runs from the numbered I, II, II, IV and VI (in higher mammals, the fifth aortic sac to the dorsal aorta on the same side; and (d) a arches are transient, becoming fused with the fourth pha- nerve that enters it from the brain stem and carries motor ryngeal arch)1,2.
    [Show full text]