Clinical Features of Episcleritis and Scleritis in Some Japanese Patients

1995 ◽  
Vol 209 (5) ◽  
pp. 256-259 ◽  
Author(s):  
Noriko Nakajima ◽  
Seiji Hayasaka
Keyword(s):  
Clinical Features ◽  
Japanese Patients

Clinical Features of Japanese Patients With Anti-α-enolase Antibody–Positive Autoimmune Retinopathy: Novel Subtype of Multiple Drusen

2018 ◽  
Vol 196 ◽  
pp. 181-196 ◽  
Author(s):  
Ryo Ando ◽  
Wataru Saito ◽  
Atsuhiro Kanda ◽  
Satoru Kase ◽  
Kaoru Fujinami ◽  
...  
Keyword(s):  
Clinical Features ◽  
Japanese Patients ◽  
Autoimmune Retinopathy

scholarly journals Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 715 ◽  
Author(s):  
Sugiyama ◽  
Moteki ◽  
Kitajiri ◽  
Kitano ◽  
Nishio ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Japanese Patients ◽  
Copy Number Variations ◽  
Clinical Feature ◽  
Single Nucleotide Variants ◽  
Characteristic Clinical Feature ◽  
Or Gene ◽  
Homozygous Deletions

The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in Japanese patients with hearing loss. Furthermore, the clinical features of OTOA-associated hearing loss have not yet been clarified. In this study, we performed CNV analyses of a large Japanese hearing loss cohort, and identified CNVs in 234 of 2262 (10.3%, 234/2262) patients with autosomal recessive hearing loss. Among the identified CNVs, OTOA gene-related CNVs were the second most frequent (0.6%, 14/2262). Among the 14 cases, 2 individuals carried OTOA homozygous deletions, 4 carried heterozygous deletions with single nucleotide variants (SNVs) in another allele. Additionally, 1 individual with homozygous SNVs in the OTOA gene was also identified. Finally, we identified 7 probands with OTOA-associated hearing loss, so that its prevalence in Japanese patients with autosomal recessive hearing loss was calculated to be 0.3% (7/2262). As novel clinical features identified in this study, the audiometric configurations of patients with OTOA-associated hearing loss were found to be mid-frequency. This is the first study focused on the detailed clinical features of hearing loss caused by this gene mutation and/or gene deletion.

scholarly journals Changes in the Clinical Features and Long-term Outcomes of Colonic Diverticulitis in Japanese Patients

2017 ◽  
Vol 56 (22) ◽  
pp. 2971-2977 ◽  
Author(s):  
Akira Mizuki ◽  
Masayuki Tatemichi ◽  
Atsushi Nakazawa ◽  
Nobuhiro Tsukada ◽  
Hiroshi Nagata ◽  
...  
Keyword(s):  
Clinical Features ◽  
Japanese Patients ◽  
Colonic Diverticulitis ◽  
Long Term Outcomes

Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type

Neurogenetics ◽  
2012 ◽  
Vol 13 (3) ◽  
pp. 237-243 ◽  
Author(s):  
Makiko Taira ◽  
Hiroyuki Ishiura ◽  
Jun Mitsui ◽  
Yuji Takahashi ◽  
Toshihiro Hayashi ◽  
...  
Keyword(s):  
Clinical Features ◽  
Haplotype Analysis ◽  
Japanese Patients ◽  
Finnish Type
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