Publications by authors named "Shu-Yuan Chang"

Article Synopsis
  • A 37-year-old woman underwent amniocentesis due to her advanced maternal age and was found to have low-level mosaic trisomy 14 in her fetus, with varying percentages of trisomy cells in amniocyte analyses.
  • Subsequent testing, including ultrasound and genetic counseling, showed no significant genomic imbalance, and the parents' karyotypes were normal.
  • Ultimately, she delivered a healthy baby with no signs of trisomy 14, indicating that low-level mosaicism can lead to positive outcomes despite initial concerning test results.
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Article Synopsis
  • A 37-year-old woman underwent amniocentesis during her pregnancy, revealing a mosaic unbalanced translocation with 46,XY,der(14)t(13;14)(q32.2;p13), indicating a duplication in the distal region of chromosome 13. !* -
  • Despite the complex genetic findings and varying degrees of mosaicism (ranging from 30-56%), the pregnancy progressed normally and resulted in the delivery of a healthy baby. !* -
  • Follow-up genetic tests at 4.5 months and 1 year showed continued mosaicism, but no adverse developmental outcomes were noted in the child, suggesting a favorable health prognosis. !*
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Background: (MAB) has emerged as the predominant pulmonary non-tuberculous mycobacterial pathogen in parts of Asia, including Taiwan. The reasons for the significant increase in MAB infections in the non-cystic fibrosis (CF) populations are poorly understood. The study aimed to elucidate whether this increase is related to the spread of the globally successful clone of MAB.

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Objectives: This study evaluated the efavirenz (EFV) mid-dose plasma concentration (C12), clinical efficacy, and safety after the switch to a single-tablet regimen containing tenofovir disoproxil fumarate (TDF), lamivudine (3TC), and 400-mg EFV in virally suppressed HIV-positive Taiwanese who were receiving co-formulated TDF, emtricitabine (FTC), and 600-mg EFV.

Methods: In this single-arm, open-label study, HIV-positive adults who had undetectable plasma HIV RNA load (<50 copies/ml) for 6 months or longer while receiving co-formulated TDF, FTC, and 600-mg EFV with EFV C12 of ≥1 mg/L were enrolled. The participants were switched to co-formulated TDF, 3TC, and 400-mg EFV and followed for 24 weeks.

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Outbreaks of infections by , particularly subspecies , are increasingly reported worldwide. Several multilocus sequence typing (MLST) protocols for grouping international outbreak strains have been developed but not yet directly compared. Using the three-gene (, , and ), seven-gene (, , , , , , and ) and thirteen-gene (all of the preceding genes plus , , and ) MLST schemes, we identified 22, 38, and 40 unique sequence types (STs), respectively, among a total of 139 nonduplicated isolates.

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Infections caused by the difficult-to-treat bacterium are increasing in frequency. Rifabutin, in contrast to rifampin, appears to be active against , especially against clarithromycin-resistant strains. However, explorations for potential synergy between rifabutin and available antimicrobials are currently limited.

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Objective: We present digynic triploidy in a fetus with semilobar holoprosencephaly (HPE).

Case Report: A 32-year-old, gravid 1, para 0, woman underwent prenatal ultrasound examination at 12 weeks of gestation, and the ultrasound showed relative macrocephaly, a small non-cystic placenta, and a fetus with absent nasal bone and semilobar HPE. The pregnancy was terminated subsequently, and a 50-g fetus was delivered with a relatively enlarged head and premaxillary agenesis.

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Article Synopsis
  • Prenatal diagnosis identified a familial microdeletion on chromosome 1 in a fetus with polydactyly, discovered during ultrasound examinations.
  • A 30-year-old woman underwent amniocentesis at 22 weeks due to the fetal condition; genetic testing revealed a specific 1.317-Mb deletion involving several genes.
  • The family chose to continue the pregnancy; the baby girl was born healthy at 40 weeks with only postaxial polydactyly of the left foot and no other major abnormalities.
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Objective: We present prenatal diagnosis of a familial 5p14.3-p14.1 deletion in a fetus with congenital heart disease on prenatal ultrasound.

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Objective: We present prenatal diagnosis of a 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction (IUGR) on prenatal ultrasound.

Case Report: A 30-year-old, gravida 3, para 2, woman was referred to the hospital for amniocentesis because of fetal ventriculomegaly on prenatal ultrasound.

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Objective: To report prenatal diagnosis of 22q11.2 deletion syndrome in a pregnancy with congenital heart defects in the fetus.

Case Report: A 26-year-old, primigravid woman was referred for counseling at 24 weeks of gestation because of abnormal ultrasound findings of fetal congenital heart defects.

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Human cytomegalovirus (HCMV) is a large DNA virus and a member of the betaherpesvirus family. HCMV infection is extremely common in human populations and can cause severe diseases in immunocompromised hosts. Ganciclovir is the most widely used antiviral drug for cytomegalovirus infection and works by blocking the amplification of HCMV.

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Background: Human cytomegalovirus (HCMV) is a common human pathogen that causes significant morbidity and mortality. The efficacy of anti-HCMV drugs such as ganciclovir, foscarnet and cidofovir is limited because of drug toxicities and frequent development of resistance. Here, we report an alternative anti-HCMV method using RNA silencing.

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Pesticide exposure is associated with various neoplastic diseases and congenital malformations. Previous studies have indicated that pesticides may be metabolized by cytochrome P450 3A5 or glutathione S-transferases. DNA-repair genes, including X-ray repair cross-complementing group 1 (XRCC1) and xeroderma pigmentosum group D (XPD), may also be implicated in the process of pesticide-related carcinogenesis.

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