The clinical characteristics of juvenile-onset systemic sclerosis in Japanese patients

2013 ◽  
Author(s):  
Yuri Hatta ◽  
Minoru Hasegawa ◽  
Takashi Matsushita ◽  
Yasuhito Hamaguchi ◽  
Manabu Fujimoto ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Clinical Characteristics ◽  
Japanese Patients ◽  
Juvenile Onset

The clinical characteristics of juvenile-onset systemic sclerosis in Japanese patients

2014 ◽  
Vol 24 (2) ◽  
pp. 377-379 ◽  
Author(s):  
Yuri Hatta ◽  
Minoru Hasegawa ◽  
Takashi Matsushita ◽  
Yasuhito Hamaguchi ◽  
Manabu Fujimoto ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Clinical Characteristics ◽  
Japanese Patients ◽  
Juvenile Onset

scholarly journals Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Mahjabin Islam ◽  
Nigel Hoggard ◽  
Marios Hadjivassiliou
Keyword(s):  
Chenodeoxycholic Acid ◽  
Clinical Characteristics ◽  
Spastic Paraparesis ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Cerebrotendinous Xanthomatosis ◽  
Juvenile Onset ◽  
Progressive Ataxia ◽  
Classical Triad ◽  
High Index Of Suspicion

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurometabolic disorder of lipid storage and bile acid synthesis. Whilst CTX is said to present with the classic triad of juvenile onset cataracts, tendon xanthomata and progressive ataxia, the diversity of presentation can be such that the diagnosis may be substantially delayed resulting in permanent neurological disability. Methods A retrospective review of the clinical characteristics and imaging findings of 4 patients with CTX presenting to the Sheffield Ataxia Centre over a period of 25 years. Results Although CTX-related symptoms were present from childhood, the median age at diagnosis was 39 years. Only 1 of the 4 cases had tendon xanthomata, only 2 cases had juvenile onset cataracts and 3 had progressive ataxia with one patient presenting with spastic paraparesis. Serum cholestanol was elevated in all 4 patients, proving to be a reliable diagnostic tool. In addition, cholestanol was raised in the CSF of 2 patients who underwent lumbar puncture. Despite treatment with chenodeoxycholic acid (CDCA) and normalization of serum cholestanol, CSF cholestanol remained high in one patient, necessitating increase in the dose of CDCA. Further adjustments to the dose of CDCA in the patient with raised CSF cholestanol resulted in slowing of progression. Two of the patients who have had the disease for the longest continued to progress, one subsequently dying from pneumonia. Conclusion A high index of suspicion for CTX, even in the absence of the classical triad is essential in reaching such diagnosis. The earlier the diagnosis and treatment, the better the outcome.

scholarly journals Ethnic comparison in takotsubo syndrome: novel insights from the International Takotsubo Registry

2021 ◽  
Author(s):  
Yoichi Imori ◽  
Ken Kato ◽  
Victoria L. Cammann ◽  
Konrad A. Szawan ◽  
Manfred Wischnewsky ◽  
...  
Keyword(s):  
Hospital Mortality ◽  
Clinical Characteristics ◽  
Ethnic Disparities ◽  
Japanese Patients ◽  
Learning Approach ◽  
Takotsubo Syndrome ◽  
Unique Identifier ◽  
Hospital Outcomes ◽  
Machine Learning Approach ◽  
The Impact

Abstract Background Ethnic disparities have been reported in cardiovascular disease. However, ethnic disparities in takotsubo syndrome (TTS) remain elusive. This study assessed differences in clinical characteristics between Japanese and European TTS patients and determined the impact of ethnicity on in-hospital outcomes. Methods TTS patients in Japan were enrolled from 10 hospitals and TTS patients in Europe were enrolled from 32 hospitals participating in the International Takotsubo Registry. Clinical characteristics and in-hospital outcomes were compared between Japanese and European patients. Results A total of 503 Japanese and 1670 European patients were included. Japanese patients were older (72.6 ± 11.4 years vs. 68.0 ± 12.0 years; p < 0.001) and more likely to be male (18.5 vs. 8.4%; p < 0.001) than European TTS patients. Physical triggering factors were more common (45.5 vs. 32.0%; p < 0.001), and emotional triggers less common (17.5 vs. 31.5%; p < 0.001), in Japanese patients than in European patients. Japanese patients were more likely to experience cardiogenic shock during the acute phase (15.5 vs. 9.0%; p < 0.001) and had a higher in-hospital mortality (8.2 vs. 3.2%; p < 0.001). However, ethnicity itself did not appear to have an impact on in-hospital mortality. Machine learning approach revealed that the presence of physical stressors was the most important prognostic factor in both Japanese and European TTS patients. Conclusion Differences in clinical characteristics and in-hospital outcomes between Japanese and European TTS patients exist. Ethnicity does not impact the outcome in TTS patients. The worse in-hospital outcome in Japanese patients, is mainly driven by the higher prevalence of physical triggers. Trial Registration URL: https://www.clinicaltrials.gov; Unique Identifier: NCT01947621.

scholarly journals Brief Report: HLA-DRB1, DQA1, and DQB1 in Juvenile-Onset Systemic Sclerosis

2016 ◽  
Vol 68 (11) ◽  
pp. 2772-2777 ◽  
Author(s):  
Anne M. Stevens ◽  
Sami B. Kanaan ◽  
Kathryn S. Torok ◽  
Thomas A. Medsger ◽  
Maureen D. Mayes ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Juvenile Onset

Classification of Japanese patients with mild/early systemic sclerosis (SSc) by the 2013 ACR/EULAR classification criteria for SSc

2016 ◽  
Vol 27 (4) ◽  
pp. 614-617 ◽  
Author(s):  
Yuka Ikawa ◽  
Yasuhito Hamaguchi ◽  
Naoki Mugii ◽  
Takashi Matsushita ◽  
Kazuhiko Takehara
Keyword(s):  
Systemic Sclerosis ◽  
Japanese Patients ◽  
Classification Criteria ◽  
Early Systemic Sclerosis

scholarly journals Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls

2019 ◽  
Vol 112 (4) ◽  
pp. 369-376 ◽  
Author(s):  
Yukihide Momozawa ◽  
Yusuke Iwasaki ◽  
Makoto Hirata ◽  
Xiaoxi Liu ◽  
Yoichiro Kamatani ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
Clinical Characteristics ◽  
Statistical Tests ◽  
Japanese Patients ◽  
Pathogenic Variants ◽  
Liver Cancers ◽  
Genetics And Genomics ◽  
Genetic Testing Guidelines ◽  
And Control

AbstractBackgroundGenetic testing has been conducted in patients with prostate cancer (PCa) using multigene panels, but no centralized guidelines for genetic testing exist. To overcome this limitation, we investigated the demographic and clinical characteristics of patients with pathogenic variants.MethodsWe sequenced eight genes associated with hereditary PCa in 7636 unselected Japanese patients with PCa and 12 366 male, cancer-free control individuals. We assigned clinical significance for all 1456 variants using the American College of Medical Genetics and Genomics guidelines and ClinVar. We compared the frequency of carriers bearing pathogenic variants between cases and control participants with calculated PCa risk in each gene and documented the demographic and clinical characteristics of patients bearing pathogenic variants. All statistical tests were two-sided.ResultsWe identified 136 pathogenic variants, and 2.9% of patients and 0.8% of control individuals had a pathogenic variant. Association with PCa risk was statistically significant for variants in BRCA2 (P &lt; .001, odds ratio [OR] = 5.65, 95% confidence interval [CI] = 3.55 to 9.32), HOXB13 (P &lt; .001, OR = 4.73, 95% CI = 2.84 to 8.19), and ATM (P &lt; .001, OR = 2.86, 95% CI = 1.63 to 5.15). We detected recurrent new pathogenic variants such as p.Gly132Glu of HOXB13. Patients with pathogenic variants were 2.0 years younger at diagnosis and more often had smoking and alcohol drinking histories as well as family histories of breast, pancreatic, lung, and liver cancers.ConclusionsThis largest sequencing study of PCa heredity provides additional evidence supporting the latest consensus among clinicians for developing genetic testing guidelines for PCa.

Sign in / Sign up

Export Citation Format

Share Document