Report of a case with ferredoxin reductase ( FDXR ) gene variants in a Chinese boy exhibiting hearing loss, visual impairment and motor retardation

Author(s):  
Chengqing Yang ◽  
Ying Zhang ◽  
Jiuwei Li ◽  
Zhenfeng Song ◽  
Zhi Yi ◽  
...  
2007 ◽  
Vol 121 (4) ◽  
pp. 393-394 ◽  
Author(s):  
S Brewis ◽  
D M Baguley

Following surgery in the USA in 1992 to remove a large right cerebello-pontine angle tumour, a 39-year-old woman developed severe brainstem and cerebellar infarction. This left her with severe visual impairment and ataxia. She became able to communicate by means of an adapted finger-spelling alphabet. She had total hearing loss in the right ear and a mild to moderately severe sensorineural hearing loss in the left ear, and severe tinnitus heard throughout the head. Additionally, she experienced hypersensitivity to sound above normal conversational levels, which evoked a synaesthetic feeling of coldness across her upper torso. Previous linear analogue hearing aid fitting had not been beneficial for either hearing or tinnitus. Careful fitting of a digital hearing aid, together with tinnitus counselling, inhibited the patient's tinnitus to 25 per cent of its former intensity after a six month acclimatisation period, and improved communication.


2021 ◽  
Author(s):  
Haina Zhao ◽  
Lanlan Chen ◽  
Lin Zhu ◽  
Tingting Qiao ◽  
Peipei Liu ◽  
...  

Abstract Background: Streptococcus suis is responsible for several kinds of zoonosis worldwide. It can cause meningitis, sepsis, osteoarthritis, endocarditis, endophthalmitis, and other diseases. Human infection typically occurs in occupational settings associated with pig husbandry or pork processing. At present, metagenomic next-generation sequencing (mNGS) is prominent testing method for achieving an early and rapid diagnosis of some infectious diseases. Case presentation: A 48-year-old Chinese man who denied exposure to pigs or pork was to admitted the hospital because he had experienced a fever for three days, visual impairment, and hearing loss for one day. After a series of examinations and laboratory tests, Streptococcus suis was detected in the aqueous humor culture as well as the vitreous humor and cerebrospinal fluid with mNGS. But bacteria were not detected in the blood or cerebrospinal fluid culture. The patient's condition improved, and he was discharged after 2 weeks of active treatment. However, at present, poor vision in the right eye, poor hearing in the right ear and recurrent vertigo remain.Conclusions: In a patient presenting with meningitis, vision loss, and/or hearing loss, Streptococcus suis infection should be strongly suspected regardless of the patient's occupation. mNGS has excellent diagnostic value to determine which was the etiological agent for infectious diseases.


1987 ◽  
Vol 81 (3) ◽  
pp. 106-109
Author(s):  
S.C. Brown

Usher's syndrome is a genetic condition that is characterized by hearing loss and progressive blindness from retinitis pigmentosa. This article reports on a study of the impairments and demographic characteristics of 60 Louisiana students with Usher's syndrome that were analyzed to identify their interrelationships. The research found that although a substantial majority of the students had a manifested visual impairment and profound hearing loss, some of the students had less-than-profound hearing loss and no manifested visual impairment—a finding that corroborated the findings of previous studies. Moreover, the severity of these two impairments seems to be interrelated.


PLoS ONE ◽  
2016 ◽  
Vol 11 (1) ◽  
pp. e0147646 ◽  
Author(s):  
Thomas Hong ◽  
Paul Mitchell ◽  
George Burlutsky ◽  
Gerald Liew ◽  
Jie Jin Wang

Gene ◽  
2018 ◽  
Vol 652 ◽  
pp. 59-65 ◽  
Author(s):  
Xiaowan Chen ◽  
Fang Wang ◽  
Aishanjiang Maerhaba ◽  
Qianqian Li ◽  
Jianchao Wang ◽  
...  

2018 ◽  
Vol 147 (6) ◽  
pp. 615 ◽  
Author(s):  
Madhulika Kabra ◽  
PawanKumar Singh ◽  
Shipra Sharma ◽  
Manju Ghosh ◽  
ShivaramS Shastri ◽  
...  

2003 ◽  
Vol 13 (1) ◽  
pp. 8-8
Author(s):  
Claire Goodman

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