EFFECT OF ADAPTIVE SPORTS ON RESERVE PARAMETERS OF THE CARDIOVASCULAR SYSTEM IN PATIENTS WITH SENSORINEURAL HEARING LOSS TYPE I AND II

Purpose: Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1G gene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction. Methods: A 26-year-old female patient with profound congenital sensorineural hearing loss, nyctalopia and retinitis pigmentosa was studied. Audiometric, vestibular and ophthalmologic examination was performed. A panel of 13 genes was tested by next-generation sequencing (NGS). Results: While the hearing loss was confirmed to be profound, the vestibular function resulted normal. Although typical retinitis pigmentosa was present, the age at onset was unusually late for USH1 syndrome. A novel homozygous missense variation (c.1187T>A, p.Leu396Gln) in the USH1G gene has been identified as causing the disease in our patient. Conclusions: Genetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes.

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Audiological and otologic manifestations of glutaric aciduria type I

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01571-w ◽

2020 ◽

Vol 15 (1) ◽

Author(s):

Yen-Chi Chen ◽

Chii-Yuan Huang ◽

Yen-Ting Lee ◽

Chia-Hung Wu ◽

Sheng-Kai Chang ◽

...

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Hearing Impairment ◽

Past History ◽

Glutaric Aciduria Type ◽

Sensorineural Hearing ◽

Neurological Deficits ◽

Type I ◽

Glutaric Aciduria ◽

Icu Admission

Abstract Background Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our knowledge, this is the largest study of comprehensive audiological and otologic evaluation in patients with GA-1 to date. Methods Thirteen patients diagnosed with GA-1 between January 1994 and December 2019 with audiological, radiological and genetic manifestations were retrospectively analyzed. Hearing tests were performed in all patients. MRI was performed for radiological evaluation. Results Hearing loss was found in 76.9% (10/13) of GA-1 patients, including slight hearing loss in 46.1% (6/13) of patients, mild hearing loss in 15.4% (2/13) of patients, and moderate hearing loss in 7.7% (1/13) of patients. Normal hearing thresholds were seen in 23% (3/13) of patients. Patients with intensive care unit (ICU) admission history showed significantly worse hearing than those without (29.17 ± 12.47 vs 13.56 ± 3.93 dB HL, 95% CI 2.92–24.70, p = 0.0176). One patient had moderate sensorineural hearing loss and a past history of acute encephalopathic crisis. No usual causative gene mutations associated with hearing loss were found in these patients. MRI showed a normal vestibulocochlear apparatus and cochlear nerve. One patient with extensive injury of the basal ganglia on MRI after acute encephalopathic crisis was found to have moderate sensorineural hearing loss. Two patients with disability scores above 5 were found to have mild to moderate hearing impairment. No obvious correlation between macrocephaly and hearing loss was found. Conclusion A high prevalence of hearing impairment is found in GA-1 patients. Adequate audiological evaluation is essential for these patients, especially for those after encephalopathic crises or with ICU admission history.

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Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2021.110970 ◽

2021 ◽

pp. 110970

Author(s):

Katarzyna Iwanicka-Pronicka ◽

Joanna Trubicka ◽

Edyta Szymanska ◽

Elżbieta Ciara ◽

Dariusz Rokicki ◽

...

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Clinical Significance ◽

Sensorineural Hearing ◽

Type I

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Type II Collagen-Induced Autoimmune Sensorineural Hearing Loss and Vestibular Dysfunction in Rats

Annals of Otology Rhinology & Laryngology ◽

10.1177/000348948309200310 ◽

1983 ◽

Vol 92 (3) ◽

pp. 267-271 ◽

Cited By ~ 94

Author(s):

T. J. Yoo ◽

M. A. Cremer ◽

K. Tomoda ◽

A. S. Townes ◽

J. M. Stuart ◽

...

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Type Ii Collagen ◽

Collagen Type I ◽

Sensorineural Hearing ◽

Nerve Degeneration ◽

Type I ◽

Type Ii ◽

Immunization Procedure ◽

Bovine Type

Autoimmune sensorineural hearing loss was induced in rats by immunizing them with native bovine type II collagen. Type I and denatured type II collagen, administered by an identical immunization procedure, would not induce disease. Evidence of sensorineural hearing loss was obtained by measuring the brainstem evoked potential and by observing histopathologic changes consisting of cochlear nerve degeneration and perineural vasculitis in affected animals. Immunized animals had high levels of antibodies to native type II collagen.

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Physiological Response of the Physical Capabilities of Adolescents with Sensorineural Hearing Loss to Regular Adaptive Handball

Biomedical & Pharmacology Journal ◽

10.13005/bpj/2103 ◽

2021 ◽

Vol 14 (1) ◽

pp. 99-103

Author(s):

Vladimir Yu. Karpov ◽

Svetlana Yu. Zavalishina ◽

Alexander V. Dorontsev ◽

Anastasia A. Svetlichkina ◽

Roman V. Kozjakov ◽

...

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Sensorineural Hearing ◽

Group 14 ◽

Adaptive Sports ◽

Adaptive Capabilities ◽

Student’S T ◽

Motor Actions ◽

And Control ◽

Hearing System

Training within the framework of adaptive sports and especially handball helps to significantly increase the level of adaptation to social conditions in people with hearing system pathology. Regular practice of this sport increases the accuracy of motor acts and stimulates general adaptive capabilities. The study involved 31 male teenagers aged 13-14 with sensorineural hearing loss of I-II degree. Of these, two groups were formed: the observation group (14 adolescents), who began to engage in adaptive handball, and the comparison group (17 adolescents), who continued to engage in physical education at school. The results of the annual medical examination, the results of functional tests and control standards of physical fitness were used. The results were processed using the Student's t test and correlation analysis.Regular physical trainings within the framework of handball allowed to increase the coordination-motor potential and stabilize the vestibular-dynamic stability of adolescents. They increased their physical readiness and the accuracy of their motor actions fulfillment in the conditions of play and in everyday life.Regular training in adaptive handball in adolescents with sensorineural hearing loss increases coordination abilities, speed capabilities, strength qualities and general endurance.

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Cochlear implantation in patients with osteogenesis imperfecta

Otolaryngology ◽

10.1016/j.otohns.2004.12.012 ◽

2005 ◽

Vol 132 (5) ◽

pp. 735-740 ◽

Cited By ~ 19

Author(s):

Sven-Olrik Streubel ◽

L. R. Lustig

Keyword(s):

Hearing Loss ◽

Osteogenesis Imperfecta ◽

Sensorineural Hearing Loss ◽

Cochlear Implantation ◽

Single Case ◽

Case Reports ◽

Test Word ◽

Case Series ◽

Sensorineural Hearing ◽

Type I

OBJECTIVE: Hearing loss has been shown to occur in 42% to 58% of patients with osteogenesis imperfecta (OI), with deafness arising in 25% to 60% of the patients. Implantation in patients with OI is relatively rare, with only 4 prior single case reports published in the English-language literature. The goal of this study was to evaluate the feasibility and functional outcome of cochlear implantation in 2 patients with OI tarda type I with profound sensorineural hearing loss. STUDY DESIGN: Case series. SETTING:. The implantations were performed in a tertiary academic referral center (Johns Hopkins University). RESULTS: Though promontory vascularity was encountered, full insertion of a normal cochlear implant array could be achieved in both cases. One-year postimplant scores demonstrated 20 to 40 dB hearing thresholds, Consonant-Nucleus-Consonant Test word scores of 54% and 70%, Consonant-Nucleus-Consonant Test phoneme scores of 75% and 83%, Hearing in Noise Test scores of 76% and 99%, and Central Institute of the Deaf Sentence Score sentence scores of 99% and 100%, for patients 1 and 2, respectively. CONCLUSIONS: Cochlear implantation in patients with OI is not only technically possible but the results are similar to implant outcomes for patients with sensorineural hearing loss from a variety of other causes. EBM rating: C (Otolaryngol Head Neck Surg 2005;132:735-40.)

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Sudden sensorineural hearing loss following intramuscular administration of penicillin

The Journal of Laryngology & Otology ◽

10.1258/002221504772784612 ◽

2004 ◽

Vol 118 (2) ◽

pp. 143-145 ◽

Cited By ~ 3

Author(s):

Pedro Alberto Escada ◽

Clara Capucho ◽

José Francisco Madeira da Silva

Keyword(s):

Hearing Loss ◽

Drug Reaction ◽

Sensorineural Hearing Loss ◽

Sudden Hearing Loss ◽

Sudden Sensorineural Hearing Loss ◽

Sensorineural Hearing ◽

Intramuscular Administration ◽

Type I ◽

Allergic Reactions ◽

Immediate Hypersensitivity

We report a case of sudden hearing loss in a patient with acute exudative tonsillitis, occurring 15 minutes after the intramuscular administration of penicillin. Audiological evaluation documented a profound sensorineural hearing loss of the cochlear type. The mechanism of the hearing loss was probably an immediate hypersensitivity (type I) allergic drug reaction. Penicillin is used frequently for the treatment of several infections. Allergic reactions to penicillin are well known and include urticaria, maculopapular exanthems, angio-oedema, bronchospasm and anaphylaxis, but sudden hearing loss has never been recorded.

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