scholarly journals The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome

2019 ◽  
Vol 7 (4) ◽  
pp. e00581 ◽  
Author(s):  
Ai‐Ling Koh ◽  
Ee‐Shien Tan ◽  
Maggie S. Brett ◽  
Angeline H. M. Lai ◽  
Saumya Shekhar Jamuar ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Noonan Syndrome ◽  
Southeast Asian ◽  
Asian Patients ◽  
Phenotypic Features

Association between Genetic Variants Associated with Vertical Cup-to-Disc Ratio and Phenotypic Features of Primary Open-Angle Glaucoma

Ophthalmology ◽  
2012 ◽  
Vol 119 (9) ◽  
pp. 1819-1825 ◽  
Author(s):  
Fumihiko Mabuchi ◽  
Yoichi Sakurada ◽  
Kenji Kashiwagi ◽  
Zentaro Yamagata ◽  
Hiroyuki Iijima ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Phenotypic Features ◽  
Cup To Disc Ratio

scholarly journals Genotype-Related Clinical Characteristics and Myocardial Fibrosis and Their Association with Prognosis in Hypertrophic Cardiomyopathy

2020 ◽  
Vol 9 (6) ◽  
pp. 1671 ◽  
Author(s):  
Hyung Yoon Kim ◽  
Jong Eun Park ◽  
Sang-Chol Lee ◽  
Eun-Seok Jeon ◽  
Young Keun On ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Myocardial Fibrosis ◽  
Genetic Variants ◽  
Asian Patients ◽  
Pathogenic Variants ◽  
Clinical Events ◽  
Cerebrovascular Events ◽  
Genotypic Analysis ◽  
Uncertain Significance

Background: The spectrum of genetic variants and their clinical significance of Hypertrophic cardiomyopathy (HCM) have been poorly studied in Asian patients. The objectives of this study were to assess the spectrum of genetic variants and genotype–phenotype relationships within a Korean HCM population. Methods: Eighty-nine consecutive unrelated HCM patients were included. All patients underwent genotypic analysis for 23 HCM-associated genes. Clinical parameters including echocardiographic and cardiac magnetic resonance (CMR) parameters were evaluated. A composite of major adverse cardiac and cerebrovascular events was assessed. Results: Genetic variants were detected in 55 of 89 subjects. Pathogenic variants or likely pathogenic variants were identified in 27 of HCM patients in MYBPC3, TNNI3, MYH7, and MYL7. Variants of uncertain significance were identified in 28 patients. There were significant differences in the presence of non-sustained ventricular tachycardia (p = 0.030) and myocardial fibrosis on CMR (p = 0.029) in the detected compared to the not-detected groups. Event-free survival was superior in the not-detected group (p = 0.006). Conclusion: Genetic variants in patients with HCM are relatively common and are associated with adverse clinical events and myocardial fibrosis on CMR. Genotypic analysis may add important information to clinical variables in the assessment of long-term risk for HCM patients.

scholarly journals Southeast Asian patients with chronic hepatitis C: The impact of novel genotypes and race on treatment outcome

Hepatology ◽  
2002 ◽  
Vol 36 (5) ◽  
pp. 1259-1265 ◽  
Author(s):  
Anouk T. Dev ◽  
Rhonda McCaw ◽  
Vijaya Sundararajan ◽  
Scott Bowden ◽  
William Sievert
Keyword(s):  
Chronic Hepatitis ◽  
Treatment Outcome ◽  
Hepatitis C ◽  
Chronic Hepatitis C ◽  
Southeast Asian ◽  
Asian Patients ◽  
The Impact

Immunophenotypic and Genetic Characteristics of Diffuse Large B-Cell Lymphoma (DLBCL), and Prognostic Significance of Cell of Origin (COO) in a Southeast Asian Cohort

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4222-4222 ◽  
Author(s):  
Vanessa CL Chong ◽  
Eng Soo Yap ◽  
Liu Xin ◽  
Suk Teng Chin ◽  
Anand Jeyasekharan ◽  
...  
Keyword(s):  
Multivariate Analysis ◽  
B Cell ◽  
Prognostic Markers ◽  
Prognostic Significance ◽  
B Cell Lymphoma ◽  
Southeast Asian ◽  
Disease Stage ◽  
Prognostic Impact ◽  
Cell Of Origin ◽  
Asian Patients

Abstract BACKGROUND/OBJECTIVE: DLBCL is a heterogeneous disease which on gene expression profiling studies (GEP) can be divided into 2 distinct subtypes, germinal center (GCB) as well as activated B cell subtype (non GCB) based on the cell-of-origin. Immunochemistry (IHC) based algorithms have been shown to have good concordance with GEP for COO classification. While Western data suggests that GCB-subtypes are associated with improved outcomes, there has been limited and conflicting data on the prognostic significance of COO amongst Asian patients. The prevalence and prognostic significance of other prognostic markers such as MYC overexpression or translocation amongst DLBCL Asian patients also remains unclear. Our study aimed to evaluate i) the prevalence of MYC translocation and overexpression, as well as COO subgroups of DLBCL in a cohort of Singaporean patients, and ii) the prognostic impact of these factors in comparison with International Prognostic Index (IPI) score and other standard prognostic markers. METHODS: A single-center retrospective analysis of 384 consecutive DLBCL patients diagnosed 2013 - 2018 was performed. Hans criteria was used to assign COO. (Prior validation studies from the hospital's pathology laboratory had confirmed concordance between Hans algorithm and GEP of 75 %.) Majority of the patients received R-CHOP (N =228) or R-EPOCH (N =47) chemotherapy RESULTS: The median age of the cases was 61 years (range 18-88), 223 were female and the majority had stage 3-4 disease (62%). Of the 297 cases with IHC data for COO, 120 (40%) were GCB subtype and 177 cases (60%) were non-GCB. MYC was overexpressed in 75% of cases (165/220) tested, while MYC FISH was positive in 23% of cases (28/122) tested. 10 of the 28 patients with MYC FISH positive were treated with R-EPOCH chemotherapy. With a median follow up of 1.2 years (0.1-5.3 years), the projected 5-year OS and PFS for the entire cohort was 69.5% and 65.6% respectively. Amongst baseline clincopathologic characteristics, only age, IPI and disease stage was associated with improved OS on both univariate and multivariate analysis. Age, IPI and disease stage was associated with PFS in univariate analysis but only IPI remained significant (p<0.001) after multivariate analysis. Neither MYC overexpression, MYC translocation nor COO was found to be prognostic for OS or PFS on multivariate analysis. The 5-year PFS and OS for the GCB vs the non-GCB subgroups was 72% vs 66%, (p=0.10), and 71% vs 70%, (p=0.06) respectively. (See Figure 1A and 1B). CONCLUSION: In this Southeast Asian DLBCL cohort, we confirmed the prognostic significance of the IPI score for both PFS and OS. GCB subtype of DLBCL comprised 40% of all DLBCL cases. COO based on Hans criteria had no prognostic significance on PFS or OS. This is in contrast to Western series where GCB subtypes identified by IHC-algorithms are associated with better prognosis. Disclosures Jeyasekharan: PerkinElmer: Other: Collaboration; Merck Sharp & Dohme: Honoraria; Janssen: Research Funding; AstraZeneca: Other: Collaboration.

WPSS is a strong prognostic indicator for clinical outcome of allogeneic transplant for myelodysplastic syndrome in Southeast Asian patients

2014 ◽  
Vol 94 (5) ◽  
pp. 761-769
Author(s):  
Liyuan Ma ◽  
Siguo Hao ◽  
Colin Diong ◽  
Yeow-Tee Goh ◽  
Sathish Gopalakrishnan ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Myelodysplastic Syndrome ◽  
Prognostic Indicator ◽  
Southeast Asian ◽  
Allogeneic Transplant ◽  
Asian Patients

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations

2016 ◽  
Vol 83 (6) ◽  
pp. 517-521 ◽  
Author(s):  
Tahir Atik ◽  
Ayca Aykut ◽  
Filiz Hazan ◽  
Huseyin Onay ◽  
Damla Goksen ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Mutation Spectrum ◽  
Novel Mutations ◽  
Phenotypic Features ◽  
Definition Of
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