scholarly journals Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report

2014 ◽  
Vol 8 (1) ◽  
Author(s):  
Masaki Kishiya ◽  
Yoshihide Nakamura ◽  
Hirotaka Ohishi ◽  
Ken-Ichi Furukawa ◽  
Yasuyuki Ishibashi
Keyword(s):  
Case Report ◽  
Japanese Family ◽  
Col2a1 Mutation

scholarly journals A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

2019 ◽  
Vol 5 (6) ◽  
pp. a003988 ◽  
Author(s):  
Aritoshi Iida ◽  
Kyoko Takano ◽  
Eri Takeshita ◽  
Chihiro Abe-Hatano ◽  
Shinichi Hirabayashi ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Pathogenic Variant ◽  
Review Of The Literature ◽  
Japanese Family

scholarly journals The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report

2013 ◽  
Vol 11 (1) ◽  
pp. 41 ◽  
Author(s):  
Yousuke Higuchi ◽  
Junya Shimizu ◽  
Michiyo Hatanaka ◽  
Etsuko Kitano ◽  
Hajime Kitamura ◽  
...  
Keyword(s):  
Case Report ◽  
Splicing Mutation ◽  
Japanese Family ◽  
C1q Deficiency

scholarly journals The Onset of Diabetes in Three out of Four Sisters: A Japanese Family with Type 1 Diabetes. A Case Report

2009 ◽  
Vol 56 (6) ◽  
pp. 767-772 ◽  
Author(s):  
Akio KISHI ◽  
Yumiko KAWABATA ◽  
Satoshi UGI ◽  
Tamaki IWAI ◽  
Yuki TANAKA ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Case Report ◽  
Japanese Family ◽  
Onset Of Diabetes

scholarly journals A Japanese family with P102L Gerstmann–Sträussler–Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report

2021 ◽  
pp. 100380
Author(s):  
Kazumichi Ota ◽  
Yoshihiko Nakazato ◽  
Ryu Yokoyama ◽  
Hitoshi Kawasaki ◽  
Naotoshi Tamura ◽  
...  
Keyword(s):  
Case Report ◽  
Japanese Family ◽  
Jakob Disease

scholarly journals P14.04: Persistent notochord in a fetus with COL2A1 mutation: a case report

2015 ◽  
Vol 46 ◽  
pp. 165-165
Author(s):  
E. Codsi ◽  
K. Borowski ◽  
A. Faksh ◽  
M. Trinidad ◽  
C. Rose ◽  
...  
Keyword(s):  
Case Report ◽  
Col2a1 Mutation

A Japanese family with mutation in the proteinase inhibitor 12 L47P gene: A case report

2018 ◽  
Vol 384 ◽  
pp. 126-128 ◽  
Author(s):  
Haruka Amano-Takeshige ◽  
Genko Oyama ◽  
Kazuaki Kanai ◽  
Toji Miyagawa ◽  
Jun Mitsui ◽  
...  
Keyword(s):  
Case Report ◽  
Proteinase Inhibitor ◽  
Japanese Family

scholarly journals Persistent Notochord in a Fetus with COL2A1 Mutation

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Elisabeth Codsi ◽  
Brian C. Brost ◽  
Arij Faksh ◽  
Amber K. Volk ◽  
Kristi S. Borowski
Keyword(s):  
Case Report ◽  
Second Trimester ◽  
First Case ◽  
Col2a1 Mutation

Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with aCOL2A1mutation. To our knowledge, this represents the first case of a persistent notochord associated with aCOL2A1mutation in humans. In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.

Misophonia: An Evidence-Based Case Report

2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Case History ◽  
Pure Tone ◽  
Physiological Responses ◽  
Evidence Based ◽  
Management Option ◽  
Pure Tone Audiogram

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.

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