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Article ; Online: Association Between

Chen, Hung-Chih / Yang, Pei-Yu / Chen, Jung-Sheng / Bau, DA-Tian / Chao, Shih-Chun

2024 Volume 38, Issue 3, Page(s) 1229–1235

Abstract: Background/aim: Given the characteristics of Serratia marcescens (S. marcescens), this study aimed at investigating its presence in the hands and contact lens cases of orthokeratology wearers, along with the status of bacterial contamination.: ... ...

Abstract	Background/aim: Given the characteristics of Serratia marcescens (S. marcescens), this study aimed at investigating its presence in the hands and contact lens cases of orthokeratology wearers, along with the status of bacterial contamination. Patients and methods: The 39 patients received the questionnaires about the background of orthokeratology and hygiene habits. A total of 39 contact lens cases and 39 hand samples from the patients were collected at Show Chwan Memorial Hospital from June to August in 2020 and sent to National Chung Cheng University for DNA extraction and PCR identification. Results: The results indicated a detection rate of 5.13% for S. marcescens in the contact lens cases and 12.82% in the hand samples. Additionally, 66.67% of contact lens case samples and 30.77% of hand samples found positive for 16s bacterial amplicons. The relationship between hand contamination and the duration of contact lens usage were revealed for both S. marcescens (p=0.021) and 16s bacterial amplicons (p=0.048). Conclusion: The results indicated that hand hygiene is more critical than focusing on contact lens hygiene when it comes to preventing S. marcescens infections. Nevertheless, both proper hand and contact lens hygiene practices can reduce the detection of bacterial eye pathogens, especially a common intestinal bacterium.
MeSH term(s)	Humans ; Serratia marcescens/isolation & purification ; Serratia marcescens/genetics ; Male ; Female ; Serratia Infections/microbiology ; Serratia Infections/epidemiology ; Serratia Infections/diagnosis ; Orthokeratologic Procedures/methods ; Contact Lenses/microbiology ; Contact Lenses/adverse effects ; Child ; Adolescent ; Hygiene ; Hand Hygiene ; Adult ; Hand/microbiology
Language	English
Publishing date	2024-04-28
Publishing country	Greece
Document type	Journal Article
ZDB-ID	807031-3
ISSN	1791-7549 ; 0258-851X
ISSN (online)	1791-7549
ISSN	0258-851X
DOI	10.21873/invivo.13559
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Article ; Online: Images Combined With Surgical Procedures and Pathological Identification to Distinguish a Reactive Histiocytosis With Organized Hematoma From a Malignant Peripheral Nerve Sheath Tumor.

Chang, Chun-Jen / Chen, Chun-Chung / Cho, DER-Yang / Bau, DA-Tian / Chen, Chao-Hsuan

In vivo (Athens, Greece)

2023 Volume 37, Issue 3, Page(s) 1365–1372

Abstract: Background/aim: Malignant peripheral nerve sheath tumors (MPNST) are rare soft tissue malignant tumors. To the best of our knowledge, there have been no previous reports of benign reactive histiocytosis with hematoma that mimics MPNST on medical images.! ...

Abstract	Background/aim: Malignant peripheral nerve sheath tumors (MPNST) are rare soft tissue malignant tumors. To the best of our knowledge, there have been no previous reports of benign reactive histiocytosis with hematoma that mimics MPNST on medical images. Case report: A 57-year-old female with past history of hypertension came to our clinic due to low back pain with radiculopathy which was diagnosed with a tumor arising from L2 neuroforamen with L2 pedical erosion. Initial tentative diagnosis on the images was MPNST. However, after surgical resection, the pathologic report revealed no evidence of malignancy but only an organized hematoma with reactive histiocytosis. Conclusion: Images cannot provide enough diagnostic evidence for distinguishing a reactive histiocytosis from MPNST. Proper surgical procedures and expert pathological identification can correct the mistaking of the ambiguous identification as MPNST. Images can only provide precise and personalized medication accompanied by proper surgical procedures and expert pathological identification.
MeSH term(s)	Female ; Humans ; Middle Aged ; Nerve Sheath Neoplasms/diagnosis ; Nerve Sheath Neoplasms/surgery ; Nerve Sheath Neoplasms/pathology ; Neurofibrosarcoma/complications ; Histiocytosis/complications
Language	English
Publishing date	2023-04-27
Publishing country	Greece
Document type	Case Reports ; Journal Article
ZDB-ID	807031-3
ISSN	1791-7549 ; 0258-851X
ISSN (online)	1791-7549
ISSN	0258-851X
DOI	10.21873/invivo.13218
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Article ; Online: Genetic susceptibility to prostate cancer in Taiwan: A genome-wide association study.

Bau, Da-Tian / Tsai, Chia-Wen / Chang, Wen-Shin / Yang, Jai-Sing / Liu, Ting-Yuan / Lu, Hsing-Fang / Wang, Yu-Wen / Tsai, Fuu-Jen

Molecular carcinogenesis

2024 Volume 63, Issue 4, Page(s) 617–628

Abstract: We conducted the first genome-wide association study (GWAS) of prostate cancer (PCa) in Taiwan with 1844 cases and 80,709 controls. Thirteen independent single-nucleotide polymorphisms (SNPs) reached genome-wide significance (p < 5 × ... ...

Abstract	We conducted the first genome-wide association study (GWAS) of prostate cancer (PCa) in Taiwan with 1844 cases and 80,709 controls. Thirteen independent single-nucleotide polymorphisms (SNPs) reached genome-wide significance (p < 5 × 10
MeSH term(s)	Male ; Humans ; Genome-Wide Association Study ; Genotype ; RNA, Long Noncoding/genetics ; Taiwan/epidemiology ; Genetic Predisposition to Disease ; Prostatic Neoplasms/epidemiology ; Prostatic Neoplasms/genetics ; Genetic Risk Score ; Polymorphism, Single Nucleotide ; Microfilament Proteins
Chemical Substances	RNA, Long Noncoding ; CORO2B protein, human ; Microfilament Proteins
Language	English
Publishing date	2024-02-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	1004029-8
ISSN	1098-2744 ; 0899-1987
ISSN (online)	1098-2744
ISSN	0899-1987
DOI	10.1002/mc.23676
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Zs.A 2664: Show issues

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Article ; Online: A Genome-Wide Association Study Identified Novel Genetic Susceptibility Loci for Oral Cancer in Taiwan.

Bau, Da-Tian / Liu, Ting-Yuan / Tsai, Chia-Wen / Chang, Wen-Shin / Gu, Jian / Yang, Jai-Sing / Shih, Liang-Chun / Tsai, Fuu-Jen

International journal of molecular sciences

2023 Volume 24, Issue 3

Abstract: Taiwan has the highest incidence rate of oral cancer in the world. Although oral cancer is mostly an environmentally induced cancer, genetic factors also play an important role in its etiology. Genome-wide association studies (GWAS) have identified nine ... ...

Abstract	Taiwan has the highest incidence rate of oral cancer in the world. Although oral cancer is mostly an environmentally induced cancer, genetic factors also play an important role in its etiology. Genome-wide association studies (GWAS) have identified nine susceptibility regions for oral cancers in populations of European descent. In this study, we performed the first GWAS of oral cancer in Taiwan with 1529 cases and 44,572 controls. We confirmed two previously reported loci on the 6p21.33 (HLA-B) and 6p21.32 (HLA-DQ gene cluster) loci, highlighting the importance of the human leukocyte antigen and, hence, the immunologic mechanisms in oral carcinogenesis. The TERT-CLMPT1L locus on 5p15.33, the 4q23 ADH1B locus, and the LAMC3 locus on 9q34.12 were also consistent in the Taiwanese. We found two new independent loci on 6p21.32, rs401775 in SKIV2L gene and rs9267798 in TNXB gene. We also found two suggestive novel Taiwanese-specific loci near the TPRS1 gene on 8q23.3 and in the TMED3 gene on 15q25.1. This study identified both common and unique oral cancer susceptibility loci in the Taiwanese as compared to populations of European descent and shed significant light on the etiology of oral cancer in Taiwan.
MeSH term(s)	Humans ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Taiwan ; Mouth Neoplasms/genetics ; Genetic Loci ; Histocompatibility Antigens Class I ; Polymorphism, Single Nucleotide ; Case-Control Studies ; Laminin ; Vesicular Transport Proteins
Chemical Substances	Histocompatibility Antigens Class I ; LAMC3 protein, human ; Laminin ; TMED3 protein, human ; Vesicular Transport Proteins
Language	English
Publishing date	2023-02-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms24032789
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Article ; Online: Incidence of Pulmonary and Respiratory Conditions in Gaucher Disease from 2000 to 2020: A Multi-institutional Cohort Study.

Huang, Yu-Nan / Huang, Jing-Yang / Liao, Wen-Ling / Chiang, Shang-Lun / Liu, Kai-Wen / Bau, DA-Tian / Wang, Chung-Hsing / Su, Pen-Hua

In vivo (Athens, Greece)

2023 Volume 37, Issue 5, Page(s) 2276–2283

Abstract: Background/aim: Gaucher disease (GD) is a rare lysosomal storage disorder that can involve the lungs and pulmonary vasculature. The long-term effects of GD on respiratory health remain unclear due to limited data on the natural history of this disease. ... ...

Abstract	Background/aim: Gaucher disease (GD) is a rare lysosomal storage disorder that can involve the lungs and pulmonary vasculature. The long-term effects of GD on respiratory health remain unclear due to limited data on the natural history of this disease. We analyzed electronic health records for 11,004 patients with GD over 10-20 years to determine the incidence of pulmonary hypertension (PH), lung disease, and other respiratory comorbidities and better understand disease course to guide management. Patients and methods: We conducted a retrospective cohort study using the TriNetX research database of 130 million international patients. The incidence of primary/secondary PH, pulmonary heart disease, interstitial/obstructive/restrictive lung disease, pulmonary hemorrhage, and pulmonary embolism was assessed in patients with GD from 2000-2020. Results: Incidence rates of all conditions assessed increased from 10 to 20 years of follow-up. Excess risk of PH, lung disease, and pulmonary hemorrhage was significantly higher in GD patients after 20 versus 10 years. Conclusion: Extended follow-up in GD is associated with substantially higher risks of PH, lung disease and other respiratory comorbidities, highlighting the need for close monitoring and early intervention to mitigate long-term pulmonary decline. Improved understanding of mechanisms driving respiratory deterioration can support the development of novel treatments to optimize outcomes in this population at high risk of pulmonary morbidity and mortality.
MeSH term(s)	Humans ; Gaucher Disease/complications ; Gaucher Disease/epidemiology ; Incidence ; Retrospective Studies ; Lung ; Lung Diseases/etiology ; Lung Diseases/complications ; Cohort Studies ; Hemorrhage/epidemiology ; Hemorrhage/etiology
Language	English
Publishing date	2023-08-29
Publishing country	Greece
Document type	Multicenter Study ; Journal Article
ZDB-ID	807031-3
ISSN	1791-7549 ; 0258-851X
ISSN (online)	1791-7549
ISSN	0258-851X
DOI	10.21873/invivo.13330
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Article ; Online: The Long-term Lung and Respiratory Outcomes of Acid Sphingomyelinase Deficiency: A 10- and 20-year Follow-up Study.

Huang, Yu-Nan / Chiang, Shang-Lun / Huang, Jing-Yang / Lu, Wen-Li / Bau, DA-Tian / Su, Pen-Hua / Wang, Chung-Hsing

In vivo (Athens, Greece)

2023 Volume 38, Issue 1, Page(s) 437–444

Abstract: Background/aim: Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder characterized by sphingomyelin accumulation causing progressive lung disease, respiratory failure, and death.: Patients and methods: This retrospective ... ...

Abstract	Background/aim: Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder characterized by sphingomyelin accumulation causing progressive lung disease, respiratory failure, and death. Patients and methods: This retrospective observational study used the TriNetX database of electronic health records for 15,108 patients with ASMD from 2000-2020. After exclusions, 8,980 individuals were followed for 10 or 20 years. Outcomes included incidence and prevalence of respiratory disorders. Associations of age, sex and race were assessed. Results: Nearly all respiratory outcomes increased significantly over 20 versus 10 years. Other respiratory disorders, specified respiratory disorders and secondary pulmonary hypertension exhibited the greatest increases, reflecting progressive lung damage in ASMD. While outcomes were poor overall, older age, male sex, and racial minority status associated with greater risks, indicating differences in disease progression or care. Conclusion: This study confirms the progressive nature of ASMD and need for close monitoring and treatment of pulmonary complications to reduce long-term morbidity and mortality. Genetic testing enabling diagnosis even for milder, adult-onset forms is critical to optimize outcomes.
MeSH term(s)	Adult ; Humans ; Male ; Follow-Up Studies ; Sphingomyelin Phosphodiesterase/genetics ; Niemann-Pick Disease, Type A/diagnosis ; Niemann-Pick Disease, Type A/genetics ; Niemann-Pick Diseases ; Lung
Chemical Substances	Sphingomyelin Phosphodiesterase (EC 3.1.4.12)
Language	English
Publishing date	2023-12-24
Publishing country	Greece
Document type	Observational Study ; Journal Article
ZDB-ID	807031-3
ISSN	1791-7549 ; 0258-851X
ISSN (online)	1791-7549
ISSN	0258-851X
DOI	10.21873/invivo.13457
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Article ; Online: Prevalence of Kidney and Urinary Tract Complications in Fabry Disease from 2000 to 2020: A Global Cohort Study Including 10,637 Patients.

Tsai, Tsung-Hsun / Wang, Chung-Hsing / Chiang, Shang-Lun / Huang, Jing-Yang / Bau, DA-Tian / Huang, Yu-Nan / Su, Pen-Hua

In vivo (Athens, Greece)

2023 Volume 37, Issue 6, Page(s) 2609–2617

Abstract: Background/aim: Fabry disease, an X-linked lysosomal storage disorder, causes progressive globotriaosylceramide accumulation in cells throughout the body. Characteristic multiorgan manifestations include renal dysfunction (Fabry nephropathy) and ... ...

Abstract	Background/aim: Fabry disease, an X-linked lysosomal storage disorder, causes progressive globotriaosylceramide accumulation in cells throughout the body. Characteristic multiorgan manifestations include renal dysfunction (Fabry nephropathy) and associated urinary tract complications. Enzyme replacement therapy (ERT) has been available since 2001, but contemporary real-world data are lacking regarding Fabry nephropathy risks and treatment outcomes. Patients and methods: This retrospective cohort study analyzed electronic medical records data for 10,637 Fabry disease patients from the TriNetX research database. Kidney and urinary tract outcomes were evaluated over two decades, 2000-2010 and 2011-2020. Outcomes assessed included chronic kidney disease (CKD), urinary tract infections, urinary incontinence, obstruction, renal insufficiency, and end-stage renal disease (ESRD). Results: The prevalence of stage 4-5 CKD nearly doubled between 2000-2010 and 2011-2020, while ESRD prevalence rose over 4-fold. Incidence rates showed similar marked elevations across renal and urologic complications. Females and Black patients experienced disproportionate escalations in kidney and urinary tract morbidity. Conclusion: This large cohort study revealed significantly increased Fabry nephropathy and associated urologic complications over the past two decades, contradicting expectations of reduced morbidity with ERT availability. The findings highlight needs to optimize screening, treatment strategies, monitoring practices, and address disparities to curb rising disease burden and improve patient outcomes.
MeSH term(s)	Female ; Humans ; Fabry Disease/complications ; Fabry Disease/epidemiology ; Cohort Studies ; Retrospective Studies ; Prevalence ; alpha-Galactosidase/adverse effects ; Kidney ; Renal Insufficiency, Chronic/complications ; Renal Insufficiency, Chronic/epidemiology ; Kidney Failure, Chronic/etiology ; Kidney Failure, Chronic/complications
Chemical Substances	alpha-Galactosidase (EC 3.2.1.22)
Language	English
Publishing date	2023-10-30
Publishing country	Greece
Document type	Journal Article
ZDB-ID	807031-3
ISSN	1791-7549 ; 0258-851X
ISSN (online)	1791-7549
ISSN	0258-851X
DOI	10.21873/invivo.13368
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Article ; Online: Elucidating the Cancer Phenotype in Turner Syndrome: A 20-Year Observational Cohort Study.

Huang, Yu-Nan / Chen, Shao-Chia / Chen, Jo-Ching / Liu, Kai-Wen / Chiang, Shang-Lun / Bau, DA-Tian / Su, Pen-Hua / Wang, Chung-Hsing

Anticancer research

2023 Volume 43, Issue 11, Page(s) 5073–5081

Abstract: Background/aim: Turner syndrome confers increased cancer susceptibility; however, large-scale epidemiological evidence is lacking. This study aimed to analyze the incidence and prevalence of various malignancies in patients with Turner syndrome over 20 ... ...

Abstract	Background/aim: Turner syndrome confers increased cancer susceptibility; however, large-scale epidemiological evidence is lacking. This study aimed to analyze the incidence and prevalence of various malignancies in patients with Turner syndrome over 20 years of age to inform screening strategies. Patients and methods: We performed a retrospective cohort analysis of 11,502 patients with Turner syndrome from 2000 to 2020 utilizing the TriNetX research network database. The outcomes encompassed the incidence and prevalence of 20 cancers. Stratified analyses were used to evaluate variations in age, sex, and race. Results: Key findings demonstrated markedly elevated risks of breast (1.7%), colon (1.0%), renal (0.4%), gonadoblastoma (0.4%), and other cancers. Significant demographic variations were observed in the incidence of cancers, such as gonadoblastoma, renal, and colon cancer. Conclusion: This large real-world study offers novel insights into the spectrum of cancer risk across adulthood in Turner syndrome. Our findings elucidate Turner syndrome's complex cancer phenotype to inform clinical decision-making, prognostication, and tailored screening strategies to ultimately advance patient care.
MeSH term(s)	Humans ; Female ; Adult ; Gonadoblastoma ; Turner Syndrome/complications ; Turner Syndrome/epidemiology ; Turner Syndrome/genetics ; Retrospective Studies ; Colonic Neoplasms ; Cohort Studies ; Phenotype ; Ovarian Neoplasms
Language	English
Publishing date	2023-11-01
Publishing country	Greece
Document type	Observational Study ; Journal Article
ZDB-ID	604549-2
ISSN	1791-7530 ; 0250-7005
ISSN (online)	1791-7530
ISSN	0250-7005
DOI	10.21873/anticanres.16707
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Zs.A 1642: Show issues

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Article ; Online: Novel genetic variants in long non-coding RNA MEG3 are associated with the risk of asthma.

Chiu, Kuo-Liang / Chang, Wen-Shin / Tsai, Chia-Wen / Mong, Mei-Chin / Hsia, Te-Chun / Bau, Da-Tian

PeerJ

2023 Volume 11, Page(s) e14760

Abstract: Background: Asthma is the most common chronic inflammatory airway disease worldwide. Asthma is a complex disease whose exact etiologic mechanisms remain elusive; however, it is increasingly evident that genetic factors play essential roles in the ... ...

Abstract	Background: Asthma is the most common chronic inflammatory airway disease worldwide. Asthma is a complex disease whose exact etiologic mechanisms remain elusive; however, it is increasingly evident that genetic factors play essential roles in the development of asthma. The purpose of this study is to identify novel genetic susceptibility loci for asthma in Taiwanese. We selected a well-studied long non-coding RNA (lncRNA), Methods: We genotyped four single nucleotide polymorphisms (SNPs) in Results: The variant AG and AA genotypes of Conclusion: MEG3
MeSH term(s)	Humans ; Asthma/genetics ; Genetic Predisposition to Disease ; Genotype ; Polymorphism, Single Nucleotide ; RNA, Long Noncoding/genetics
Chemical Substances	RNA, Long Noncoding ; MEG3 non-coding RNA, human
Language	English
Publishing date	2023-01-27
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2703241-3
ISSN	2167-8359 ; 2167-8359
ISSN (online)	2167-8359
ISSN	2167-8359
DOI	10.7717/peerj.14760
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Article: Impacts of

Wang, Bo-Ren / Chang, Wen-Shin / Liao, Cheng-Hsi / Wang, Yun-Chi / Gu, Jian / Bau, Da-Tian / Tsai, Chia-Wen

Biomedicines

2023 Volume 11, Issue 5

Abstract: The aim of this study was to investigate the association between single-nucleotide polymorphisms (SNPs) ... ...

Abstract	The aim of this study was to investigate the association between single-nucleotide polymorphisms (SNPs) in
Language	English
Publishing date	2023-05-08
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines11051396
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