Edit concept Question Editor Create issue ticket

Autosomal Recessive Deafness 38

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type DFNB


Presentation

  • Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented.[ommbid.mhmedical.com]
  • Abstract To present a series of patients with bisphosphonate induced orbital inflammation, and to review the clinical presentation, radiological features, treatment options and outcomes.Methods: We present a multicentre, retrospective case series review[citeulike.org]
  • Acronym MRT38 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Flat SNHL was present in 148 ears out of 200 ears (74.0%). High-frequency SNHL was present in 15 ears (7.5%), steeply sloping SNHL was found in 13 ears (6.5%), and left corner SNHL was also found in 13 ears (6.5%).[ejo.eg.net]
  • As hearing loss may be caused by multiple mutations in multiple genes, the test(s) to be chosen presents a challenge for the geneticist.[audiologyonline.com]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • Clinical Input Received From Physician Specialty Societies and Academic Medical Centers While the various physician specialty societies and academic medical centers may collaborate with and make recommendations during this process through the provision[bcidaho.com]
  • Mutations in the genes for enzymes that metabolize drugs may lead to too much or too little active drug when physicians prescribe standard doses. A pharmacogenetic test aims to detect a genetic basis for differences in the response to a drug.[vi0pp.blogspot.com]
  • Both families and physicians gain invaluable information that can guide medical management and intervention of babies with hearing loss (Robin, Prucka, Woolley, & Smith, 2005; Withrow et al., 2009).[audiologyonline.com]
  • Sir Archibald Garrod, the british physician who created the field of human biochemical genetics in 1902 by his study of alkaptonuria Alkaptonuria is an autosomal recessive aminoacidopathy characterized by accumulation of homogentisic acid (alkapton) in[studyres.com]
Falling
  • Situs viscerum inversus und polyposis nasi in einem Falle familirer Bronchiektasien. Beitrge zur Klinik und Erforschung der Tuberkulose und der Lungenkrankenheiten 1935, 87:489. Kartagener, M., and P. Stucki. 1962.[vdocuments.site]
  • Patients frequently experience pain and are at risk of falls, ulcerations, and amputations. We aimed to review recent diagnostic and therapeutic advances in distal symmetric polyneuropathy, the most common subtype of peripheral neuropathy.[citeulike.org]
  • Single-nucleotide polymorphisms may fall within coding sequences of genes, non-coding regions of genes, SNPs within a coding sequence do not necessarily change the amino acid sequence of the protein that is produced, due to degeneracy of the genetic code[wikivisually.com]
  • Fall 2007;11(3):333-340. PMID 17949297 Gardner P, Oitmaa E, Messner A, et al.[bcidaho.com]
Infertility
  • Internal genitalia, female Decreased infertility in females NEUROLOGIC : Central nervous system Headaches Communicating hydrocephalus LABORATORY ABNORMALITIES : Immotile sperm Immotile cilia Absent or abnormal dynein arms of sperm and respiratory epithelial[vdocuments.site]
  • Other symptoms—including sinus infections, poor growth, and infertility—affect other parts of the body. CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR).[studyres.com]
Chronic Infection
  • Thus, resistance is the inevitable consequence of the necessary repeated courses of antibiotics during pulmonary exacerbations caused by chronically infecting pathogens, and P. aeruginosa, in particular.[docplayer.net]
  • INFECTIONS OF THE FRONTAL SINUS ALSO CONTRIBUTE TO THE APPEARANCE OF THIS SYMPTOM 1 1.[vdocuments.site]
Recurrent Otitis Media
  • Chronic rhinitis/sinusitis (n 78; 100%) Recurrent otitis media (n 74; 95%) Neonatal respiratory symptoms (n 57; 73%) Situs inversus (n 43; 55%) Mucoid Pseudomonas aeruginosa (n 12; 15%) ( 30 years) Nontuberculous mycobacteria (n 8; 10%) ( 30 years ) Slide[vdocuments.site]
Anosmia
  • Slide 22 Anosmia/Cacosmia (Segno molto frequente) Cuore in posizione anomala/Destrocardia (Segno molto frequente) Eredit Autosomica Recessiva (Segno molto frequente) Infezioni respiratorie croniche (Segno molto frequente) Situs inversus (Segno molto frequente[vdocuments.site]
  • Refsum disease PHYH PEX7 SN Variable Severe; progressive Anosmia & early-onset retinitis pigmentosa – both universal findings w/variable combinations of neuropathy, deafness, ataxia, & ichthyosis Although it is extremely rare, consider Refsum disease[ncbi.nlm.nih.gov]
Rhinitis
  • Chronic rhinitis/sinusitis (n 78; 100%) Recurrent otitis media (n 74; 95%) Neonatal respiratory symptoms (n 57; 73%) Situs inversus (n 43; 55%) Mucoid Pseudomonas aeruginosa (n 12; 15%) ( 30 years) Nontuberculous mycobacteria (n 8; 10%) ( 30 years ) Slide[vdocuments.site]
Nausea
  • Entrambi i seguenti: - non nausea o vomito - fono o fotofobia A. Almeno 5 attacchi B. Dolore di intensit marcata, unilaterale costante, periorbitario, della durata da 15 a 180 minuti C.[vdocuments.site]
Ptosis
  • SCA 2, 7 Late: SCA 1, 3, 28 Very rarely: SCA 6 Nystagmus Downbeat: SCA 6 ; EA 2 Head-shaking: SCA 6 Gaze evoked: SCA 1, 3, 6 ; Not 2 Vertical eye movements abnormal: SCA 6 ; 26 ; 30 ; 37 Maculopathy (Visual loss): SCA 7 Pseudoexophthalmos: SCA 1, 2, 3 Ptosis[neuromuscular.wustl.edu]
  • Associata a (almeno uno): - Iniezione congiuntivale - Sudorazione facciale - Lacrimazione - Miosi - Ostruzione nasale - Ptosi palpebrale - Rinorrea - Edema palpebrale - Irrequietezza D.[vdocuments.site]
  • Comporta oftalmoplegia, ptosi, retinite pigmentosa, segni associati a miopatia, disturbi della conduzione cardiaca, iperproteinorrachia.[studyres.com]
Miosis
  • Associata a (almeno uno): - Iniezione congiuntivale - Sudorazione facciale - Lacrimazione - Miosi - Ostruzione nasale - Ptosi palpebrale - Rinorrea - Edema palpebrale - Irrequietezza D.[vdocuments.site]
Hearing Impairment
  • […] recessive 1A Deafness, digenic, GJB2/GJB6 not provided Hearing impairment Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a Bilateral sensorineural hearing impairment Severe sensorineural hearing impairment Bilateral conductive hearing[snpedia.com]
  • The share of the c.35delG involvement in hearing impairment varies from 28 to 63% [ 4 ].[bmcearnosethroatdisord.biomedcentral.com]
  • In up to 80% of cases of congenital hearing impairment, prelingual hearing loss occurs as the only trait (nonsyndromic).[eestiarst.ee]
  • Morton, Genetic epidemiology of hearing impairment,Ann. NY Acad. Sci. (1991) 1631.[26] G. Motta, V.[vdocuments.site]
  • X-Linked Nonsyndromic Hearing Impairment The genes implicated in X-linked nonsyndromic hearing impairment and their clinical manifestations are summarized in Table 6.[ncbi.nlm.nih.gov]
Facial Pain
  • Headache or facial pain attributed to disorders of cranium, neck, eyes, ears, nose, sinuses, teeth, mounth or other facial or cranial structures 11.5 Headache attributed to rhinosinusitis 11.8 Headache attributed to other disorders of cranium, neck, eyes[vdocuments.site]
Excitement
  • This exciting technology is currently limited to research use but we anticipate its clinical availability presenting in the not so distant future (Shearer et al., 2010).[audiologyonline.com]
Aura
  • IPOTESI DI LAVORO Slide 39 Central nervous system channelopathies Skeletal muscle and nerve channelopathies IPOTESI DI LAVORO Slide 40 Slide 41 CONCLUSIONI I primi dati mostrerebbero una prevalenza di emicrania senza aura e di emicrania catameniale nei[vdocuments.site]
Communicating Hydrocephalus
  • hydrocephalus LABORATORY ABNORMALITIES : Immotile sperm Immotile cilia Absent or abnormal dynein arms of sperm and respiratory epithelial cilia by electron microscopy KARTAGENER SYNDROME ( 244400) Clinical Synopsis Slide 24 Slide 25 THE BRAIN EPENDYMA[vdocuments.site]
Neurologic Manifestation
  • HOWEVER, LITTLE IS KNOWN ABOUT THE NEUROLOGICAL MANIFESTATIONS OF PRIMARY CILIARY DYSKINESIA IN PEDIATRIC POPULATIONS REPORTS OF HYDROCEPHALUS CAN BE FOUND IN THESE PATIENTS 1-2 PRIMARY CILIARY DYSKINESIA PATIENTS MIGHT REPORT SEVERE CEPHALEA, WHICH MAY[vdocuments.site]

Workup

  • For example if a KNCQ1 mutation is found, additional cardiac workup may be warranted since mutations in this gene are also associated with cardiac rhythm abnormalities.[bcidaho.com]
Pseudomonas
  • Table 1: Minimum inhibitory concentrations and β-lactamases produced in Pseudomonas aeruginosa Isolate Isolate number TZP CAZ FEP IPM MEM AMK GEN TOB CIP COL β-lactamases Pseudomonas aeruginosa Mucoid a TEM-63 and CMY-2 5a CTX-M-37 and NDM-1 7a TEM-63[docplayer.net]
  • Chronic rhinitis/sinusitis (n 78; 100%) Recurrent otitis media (n 74; 95%) Neonatal respiratory symptoms (n 57; 73%) Situs inversus (n 43; 55%) Mucoid Pseudomonas aeruginosa (n 12; 15%) ( 30 years) Nontuberculous mycobacteria (n 8; 10%) ( 30 years ) Slide[vdocuments.site]
Polyps
  • […] umorale (Segno occasionale) Slide 23 INHERITANCE : Autosomal recessive HEAD AND NECK : Head Poorly aerated mastoids Absence of frontal sinuses Chronic sinusitis Ears Conductive deafness Chronic otitis media Eyes Corneal abnormalities Nose Rhinitis Nasal polyps[vdocuments.site]

Treatment

  • NP is best treated with a combination of multiple therapeutic approaches, and treatments include conservative, complementary, medical, interventional, and surgical treatment modalities.[citeulike.org]
  • The symptoms More information Sleep Apnea: Treatment Sleep Apnea: Treatment I.[docplayer.net]
  • A study design might randomly assign patients with intermediate-risk test results to receive either low-intensity treatment or high-intensity treatment.[vi0pp.blogspot.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]

Prognosis

  • Although GEP tests can estimate prognosis (clinical validity), CER should assess its effect on clinical outcomes (clinical utility).[vi0pp.blogspot.com]
  • These factors lend credence to the theory that patients with GJB2 and GJB6 mutations may have a favorable prognosis following cochlear implantation, and that patients with other mutations or without a documented mutation may have a less favorable prognosis[bcidaho.com]
  • Abstract Cardiac autonomic neuropathy (CAN) has been associated with a poor prognosis in patients with diabetes.[citeulike.org]
  • The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan.[soar-rd.shinshu-u.ac.jp]
  • ., CT, MRI, and consultation with specialists) and to inform prognosis and treatment recommendations. Figure 2.[ncbi.nlm.nih.gov]

Etiology

  • An important benefit of genetic testing is etiologic diagnosis of hearing loss (JCIH, 2007; ACMG, 2002).[audiologyonline.com]
  • Suggestions regarding the possible etiology of the syndrome are advanced. Received November 20, 1956. Accepted January 11, 1957.[pediatrics.aappublications.org]
  • Repository NIGMS Human Genetic Cell Repository Subcollection Heritable Diseases Class Disorders of Uncertain Biochemical Etiology Quantity 0.050mg Quantitation Method Please see our FAQ Biopsy Source Peripheral vein Cell Type B-Lymphocyte Tissue Type[catalog.coriell.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 2014; . Accessed June, 2014. Joint Committee on Infant Hearing.[bcidaho.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations;[ommbid.mhmedical.com]
  • Relevant External Links for PCDH15 Genetic Association Database (GAD) PCDH15 Human Genome Epidemiology (HuGE) Navigator PCDH15 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PCDH15 No data available for Genatlas for PCDH15 Gene Characterization[genecards.org]
  • View Article PubMed Google Scholar Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E: Exploring the clinical and epidemiological complexity of[bmcearnosethroatdisord.biomedcentral.com]
  • Morton, Genetic epidemiology of hearing impairment,Ann. NY Acad. Sci. (1991) 1631.[26] G. Motta, V.[vdocuments.site]
Sex distribution
Age distribution

Pathophysiology

  • Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological[ommbid.mhmedical.com]
  • Objective: The objective of the study is to investigate a possible contribution of diabetes and microvascular disease to the pathophysiology of BRONJ.[citeulike.org]

Prevention

  • CER encompasses the synthesis of existing evidence and the generation of new evidence that compares alternative approaches to the prevention, diagnosis, or treatment of a health condition.[vi0pp.blogspot.com]
  • […] as early as possible to prevent irreversible sequelae.[ncbi.nlm.nih.gov]
  • There is no approved treatment to prevent or halt diabetic neuropathy, and only symptomatic pain therapies, with variable efficacy, are available. New insights into the mechanisms leading to the development of diabetic neuropathy continue to ...[citeulike.org]
  • Other exclusion criteria were not understanding the Italian language and major medical disorders and/or handicap that prevented the participants from regular work.[zdoc.site]
  • Preventive Services Task Force Recommendations Genetic testing is not a preventive service under normal circumstances. Medicare National Coverage There is no national coverage determination (NCD).[bcidaho.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!