Presentation
Patient organisations (31) Orphan drug(s) (0) Research activities on this disease Research projects (17) Clinical trials (0) Registries/biobanks (16) Networks (10) Specialised Social Services Eurordis directory The documents contained in this web site are presented [orpha.net]
The native kidneys presented angiomyolipomas (AML), which are common benign tumours in patients with TS. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal hae ... [5z7.moult.us]
Historically, persons with extensive piebaldism have experienced abuse of the sort still suffered in the present by albinos, especially in Africa. [dbpedia.org]
Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]
Deafness can present as part of a syndrome, for example Usher, Pendred, Jervell and Lange-Nielsen and Waardenburg syndromes. [centogene.com]
Ears
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Hearing Impairment
Various caloric abnormalities, including areflexia, were found in about half (8/17) of the tested subjects with sensorineural hearing impairment. [journals.lww.com]
Pfister MHF, Lalwani AK, X-linked hereditary hearing impairment, Audiological Medicin 2003, 1, 29-32. Prasansuk S. Incidence/prevalence of sensorineural hearing impairment in Thailand and Southeast Asia. Audiology 2000, 39(4):207-211. [yumpu.com]
This site lists data and links for all known gene localizations and identifications for monogenic nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered. [hereditaryhearingloss.org]
childhood-onset hearing impairment. [academic.oup.com]
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]
Workup
They will do a detailed history, complete a physical exam, and if necessary refer you to an audiologist for a thorough audiology workup. [verywell.com]
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]
Other Pathologies
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White Matter Lesions
Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection. Pediatr Neurol,55:52-7 2016(Feb.) [soar-rd.shinshu-u.ac.jp]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Congenitally deaf patients for understanding the cause of their hearing loss and determining appropriate interventions/treatments Family members of congenital deaf persons to determine whether they are carriers of hearing loss mutation(s) Patients with [otogenetics.com]
Thirty-six states now mandate universal screening of newborns resulting in earlier identification and treatment. Hereditary hearing loss may also be progressive or adult in onset. [emedicine.medscape.com]
You can help by adding to it. ( December 2017 ) Treatment [ edit ] Treatment is supportive and consists of management of manifestations. User of hearing aids and/or cochlear implant, suitable educational programs can be offered. [en.wikipedia.org]
Talk to your doctor and audiologist if you are having trouble hearing, as they can help to determine what may be causing the loss, as well as the best course of treatment. [nationalhearingtest.org]
Prognosis
"Mid-frequency sensorineural hearing loss: aetiology and prognosis." J Laryngol Otol 119 (7): 529-33. Steel KP. A new era in the genetics of deafness. NEJM 1998 Stojkovic and others. [dizziness-and-balance.com]
Okada M, Iwasaki S, et al: The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. Acta Otolaryngol Mar 31:1-4, 2017. [mita.iuhw.ac.jp]
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]
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]
Guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 2014; . Accessed June, 2014. Joint Committee on Infant Hearing. [bcidaho.com]
Of note, there’s some debate about the molecular etiology of nonsyndromic sensorineural hearing loss in subjects with only one detectable GJB2 mutation. A minority of such cases is explained by digenic etiology of GJB2 with GJB3 or GJB6. [bredagenetics.com]
Identifying genetic causes, also referred to by physicians as etiology, can be very frustrating. To help minimize the difficulty in identifying the cause, you should have a team-based approach. [verywell.com]
Prevention of Secondary Complications Regardless of its etiology, uncorrected hearing loss has consistent sequelae. [ncbi.nlm.nih.gov]
Epidemiology
You are ( * ) If you have selected the Other category, please specify which type of user you are: * Email address: * Topic of your comment * Epidemiology data Summary and related texts Related genes Clinical signs Nomenclature and/or coding Your message [orpha.net]
Hearing screening—aspects of epidemiology and identification of hearing impaired children. Int J Pediatr Otorhinolaryngol 1999, 49 (suppl 1):S287-292. [yumpu.com]
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.ro]
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]
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]
Prevention
Past studies have indicated the positive role played by the Iglesia Evangélica Filadelfia (IEF) in promoting rehabilitation and prevention of these practices. [5z7.moult.us]
Current statistics can be found on the Early Hearing Detection & Intervention (EHDI) Program Web site published by the Centers for Disease Control and Prevention. [emedicine.medscape.com]
See the video Genetic Screening: The Ultimate Preventive Medicine (KCTS/Seattle, 1980). [www2.loras.edu]
[…] as early as possible to prevent irreversible sequelae. [ncbi.nlm.nih.gov]
WHO activities for prevention of deafness and hearing impairment in children. Scand Audiol Suppl 2001, (53):93-100. [yumpu.com]