Mucolipidosis I/II/III in Taiwan

Lin, Hsiang-Yu,Lin, Shuan-Pei Association for Research of MPS and Rare Diseases 2016 Journal of mucopolysaccharidosis and rare disease Vol.2 No.1

Role of Salivary Immune Parameters in Patients With Primary Sjögren’s Syndrome

Yu-Hung Hung,Yung-Hung Lee,Pei-Pei Chen,Yuan-Zhao Lin,Chia-Hui Lin,Jeng-Hsien Yen 대한진단검사의학회 2019 Annals of Laboratory Medicine Vol.39 No.1

Background: Several factors, including clinical manifestations and laboratory data, have been used to evaluate the disease activity of Sjögren’s syndrome (SS). We investigated saliva indicators of disease activity in primary SS patients. Methods: We enrolled 138 Taiwanese patients with primary SS and 100 Taiwanese normal controls. Interleukin (IL)-6, IL-17A, tumor necrosis factor-alpha (TNF-α), and rheumatoid factor (RF)-IgA levels in saliva samples were measured using ELISA or fluorescent enzyme-linked immunoassay. Serum IgG, IgA, and IgM levels were measured by nephelometry. Erythrocyte sedimentation rate (ESR) was measured with an automatic ESR analyzer. The t-test and Pearson correlation test were used. Results: IL-6 level was higher in primary SS patients than in normal controls (14.23±14.77 vs 9.87±7.32, P=0.012), but there were no significant differences in IL-17A, TNF-α, and RF-IgA levels. In primary SS patients, IL-6 level correlated weakly with ESR and IgG levels (r=0.252, P=0.015, and r=0.248, P=0.017, respectively), and TNF-α level correlated weakly with IgG level (r=0.231, P=0.024). Conclusions: IL-6 may play a role in SS pathogenesis. Saliva IL-6 might be an indicator of disease activity in primary SS patients.

Mucopolysaccharidoses in Taiwan

Lin, Hsiang-Yu,Chuang, Chih-Kuang,Lin, Shuan-Pei Association for Research of MPS and Rare Diseases 2018 Journal of mucopolysaccharidosis and rare disease Vol.4 No.1

Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders caused by specific lysosomal enzyme deficiencies leading to the sequential degradation of glycosaminoglycans, causing substrate accumulation in various cells and tissues and progressive multiple organ dysfunction. The rare disease medical care team at Mackay Memorial Hospital in Taiwan has been dedicated to the study of MPSs for more than 20 years. Since 1999, more than 50 academic papers focusing on MPSs have been published in international medical journals. Topics of research include the following items regarding MPSs: incidence, natural history, clinical manifestations, gene mutation characteristics, cardiac function, bone mineral density, sleep studies, pulmonary function tests, hearing assessments, percutaneous endoscopic gastrostomy, anesthetic experience, imaging analysis, special biochemical tests, laboratory diagnostics, global expert consensus conferences, prenatal diagnosis, new drug clinical trials, newborn screening, and treatment outcomes. Of these published academic research papers, more than half were cross-domain, cross-industry, and international studies with results in cooperation with experts from European, American and other Asian countries. A cross-specialty collaboration platform was established based on high-risk population screening criteria with the acronym "BECARE" (Bone and joints, Eyes, Cardiac and central nervous system, Abdomen and appearance, Respiratory system, and Ear, nose, and throat involvement). Through this platform, orthopedic surgeons, rheumatologists, ophthalmologists, cardiologists, rehabilitation physicians, gastroenterologists, otorhinolaryngologists, and medical geneticists have been educated with regards to awareness of suspected cases of MPSs patients to allow for a further confirmative diagnosis of MPSs. Because of the progressive nature of the disease, an early diagnosis and early multidisciplinary therapeutic interventions including surgery, rehabilitation programs, symptom-based treatments, hematopoietic stem cell transplantation, and enzyme replacement therapy, are very important.

Newborn Screening for Lysosomal Storage Diseases in Taiwan

Lin, Hsiang-Yu,Chuang, Chih-Kuang,Lin, Shuan-Pei Association for Research of MPS and Rare Diseases 2017 Journal of mucopolysaccharidosis and rare disease Vol.3 No.1

Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders caused by the deficiency of specific lysosomal enzymes and subsequent accumulation of substrates. Enzyme deficiency leads to progressive intra-lysosomal accumulation of the incompletely degraded substances, which cause dysfunction and destruction of the cell and eventually multiple organ damage. Patients have a broad spectrum of clinical phenotypes which are generally not specific for some LSDs, leading to missed or delayed diagnosis. Due to the availability of treatment including enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation for some LSDs, early diagnosis is important. ERT products have been approved with optimal outcomes for some LSDs in the recent decades, including Gaucher, Fabry, mucopolysaccharidosis (MPS) I, Pompe, MPS VI, MPS II, and MPS IVA diseases. ERT can stabilize the clinical condition, prevent disease progression, and improve the long-term outcome of these diseases, especially if started prior to irreversible organ damage. Based on the availability of therapy and suitable screening methods in the recent years, some LSDs, including Pompe, Fabry, Gaucher, MPS I, MPS II, and MPS VI diseases have been incorporated into nationwide newborn screening panels in Taiwan.

Early Diagnosis for Mucopolysaccharidosis I - A 6-month-old Female Infant Presenting with Gibbus, Hirsutism and Mongolian Spots in a Well Baby Clinic

Lin, Hsiang-Yu,Chuang, Chih-Kuang,Chang, Jui-Hsing,Lin, Shuan-Pei Association for Research of MPS and Rare Diseases 2016 Journal of mucopolysaccharidosis and rare disease Vol.2 No.1

Mucopolysaccharidosis (MPS) I is a rare, progressive and multisystemic disease with insidious initial signs and symptoms, and making an early diagnosis can be a challenge for the first-line general medical practitioner. We report a 6-month-old girl who was brought to our well baby clinic for regular immunization with the manifestations of lumbar gibbus, hirsutism, large Mongolian spots over back and buttock, and mild bilateral legs spasticity noticed by the general pediatrician, and then newly diagnosed with MPS I after referral to the geneticist in time. Her surgical history included inguinal hernia repair at 1 month old, $CO_2$ laser supraglottoplasty for laryngomalacia and tracheostomy due to chronic respiratory failure with ventilator dependence at 2 months old. Understanding and identification of the early signs and symptoms of this disease have the potential to early diagnosis and timely appropriate treatment, which could contribute to a better clinical outcome.

Increasing the Effectiveness of Clean Intermittent Catheterization with Patient Simulation Teaching and Two-Way Feedback

Pei-Hua Lin,Ya-Wen Yang,Yan-Yu Lin,Mei-Chi Yeh 한국간호과학회 2019 한국간호과학회 학술대회 Vol.2019 No.10

Mitigating SYN flooding Attack and ARP Spoofing in SDN Data Plane

Ting-Yu Lin,Jhen-Ping Wu,Pei-Hsuan Hung,Ching-Hsuan Shao,Yu-Ting Wang,Yun-Zhan Cai,Meng-Hsun Tsai 한국통신학회 2020 한국통신학회 APNOMS Vol.2020 No.09

As the number of network devices increases rapidly, it becomes more and more difficult to defend network attacks. Large-scaled attacks, such as SYN flooding, may lead to heavy burden to the switches as well as the controller in a software defined network (SDN). In this paper, we investigate the SYN flooding and Address Resolution Protocol (ARP) spoofing attacks in SDN, and then propose mechanisms to address these two attacks. We also present a new scheme to detect SYN flooding by using only a few forwarding rules. Moreover, we utilize the Programming Protocol-independent Packet Processors (P4) technique to mitigate the burden of the controller.

Development of novel microsatellite markers to analyze the genetic structure of dog populations in Taiwan

Lai Fang-Yu,Lin Yu-Chen,Ding Shih-Torng,Chang Chi-Sheng,Chao Wi-Lin,Wang Pei-Hwa 아세아·태평양축산학회 2022 Animal Bioscience Vol.35 No.9

Objective: Alongside the rise of animal-protection awareness in Taiwan, the public has been paying more attention to dog genetic deficiencies due to inbreeding in the pet market. The goal of this study was to isolate novel microsatellite markers for monitoring the genetic structure of domestic dog populations in Taiwan. Methods: A total of 113 DNA samples from three dog breeds—beagles (BEs), bichons (BIs), and schnauzers (SCs)—were used in subsequent polymorphic tests applying the 14 novel microsatellite markers that were isolated in this study. Results: The results showed that the high level of genetic diversity observed in these novel microsatellite markers provided strong discriminatory power. The estimated probability of identity (P(ID)) and the probability of identity among sibs (P(ID)sib) for the 14 novel microsatellite markers were 1.7×10–12 and 1.6×10–5, respectively. Furthermore, the power of exclusion for the 14 novel microsatellite markers was 99.98%. The neighbor-joining trees constructed among the three breeds indicated that the 14 sets of novel microsatellite markers were sufficient to correctly cluster the BEs, BIs, and SCs. The principal coordinate analysis plot showed that the dogs could be accurately separated by these 14 loci based on different breeds; moreover, the Beagles from different sources were also distinguished. The first, the second, and the third principal coordinates could be used to explain 44.15%, 26.35%, and 19.97% of the genetic variation. Conclusion: The results of this study could enable powerful monitoring of the genetic structure of domestic dog populations in Taiwan. Objective: Alongside the rise of animal-protection awareness in Taiwan, the public has been paying more attention to dog genetic deficiencies due to inbreeding in the pet market. The goal of this study was to isolate novel microsatellite markers for monitoring the genetic structure of domestic dog populations in Taiwan.Methods: A total of 113 DNA samples from three dog breeds—beagles (BEs), bichons (BIs), and schnauzers (SCs)—were used in subsequent polymorphic tests applying the 14 novel microsatellite markers that were isolated in this study.Results: The results showed that the high level of genetic diversity observed in these novel microsatellite markers provided strong discriminatory power. The estimated probability of identity (P(ID)) and the probability of identity among sibs (P(ID)sib) for the 14 novel microsatellite markers were 1.7×10–12 and 1.6×10–5, respectively. Furthermore, the power of exclusion for the 14 novel microsatellite markers was 99.98%. The neighbor-joining trees constructed among the three breeds indicated that the 14 sets of novel microsatellite markers were sufficient to correctly cluster the BEs, BIs, and SCs. The principal coordinate analysis plot showed that the dogs could be accurately separated by these 14 loci based on different breeds; moreover, the Beagles from different sources were also distinguished. The first, the second, and the third principal coordinates could be used to explain 44.15%, 26.35%, and 19.97% of the genetic variation.Conclusion: The results of this study could enable powerful monitoring of the genetic structure of domestic dog populations in Taiwan.

Regulatory Role of cAMP Receptor Protein over Escherichia coli Fumarase Genes

Yu-Pei Chen,Hsiao-Hsien Lin,Chi-Dung Yang,Shin-Hong Huang,Ching-Ping Tseng 한국미생물학회 2012 The journal of microbiology Vol.50 No.3

Escherichia coli expresses three fumarase genes, namely, fumA, fumB, and fumC. In the present study, catabolite repression was observed in the fumA-lacZ and fumC-lacZ fusion strains, but not in the fumB-lacZ fusion strain. The Crp-binding sites in fumA and fumC were identified using an electrophoretic mobility shift assay and footprint analysis. However, the electrophoretic mobility shift assay did not detect band shifts in fumB. Fnr and ArcA serve as transcription regulators of fumarase gene expression. In relation to this, different mutants, including Δcya, Δcrp, Δfnr, and ΔarcA, were used to explore the regulatory role of Crp over fumA and fumC. The results show that Crp is an activator of fumA and fumC gene expression under various oxygen conditions and growth rates. ArcA was identified as the dominant repressor, with the major repression occurring at 0–4% oxygen. In addition, Fnr was confirmed as a repressor of fumC for the first time. This study elucidates the effects of Crp on fumarase gene expression.

Detection of Aflatoxin B1 in Corn, Rice, and Barley by ELISA, Using a Heavy-Chain IgG_2bIsotype Monoclonal Antibody

Pei, Shi Chun,Li, Yu Hua,Zhang, Yuan Yuan,Cai, Lin,Lee, Won Jong Informa UK (TaylorFrancis) 2010 JOURNAL OF THE AMERICAN SOCIETY OF BREWING CHEMIST Vol.68 No.1