1.Isolation and identification of endophytic fungi involved in the promotion of sesquiterpene accumulation in Syringa pinnatifolia
Jiaqi GAO ; Shiou Yih LEE ; Badalahu TAI ; Xingyun CHAI ; Juan LIU
Science of Traditional Chinese Medicine 2023;1(2):129-136
Background: The stem of Syringa pinnatifolia is used as traditional Mongolian medicine for the treatment of cardiopulmonary diseases, in which sesquiterpenes are regarded as the primary medicinal compounds. However, only S. pinnatifolia from natural stands is able to produce medicinal-grade stems when compared with that from cultivated stands. Despite the need to develop an effective technique to promote sesquiterpene accumulation in cultivated stands to ensure sustainable resource production, studies on the potential use of fungal endophytes as fungal elicitors were limited. Objective: This study explored the potential of selected endophytic fungi isolated from the stems of wild and cultivated S. pinnatifolia and further examined their efficacy in promoting sesquiterpene production in S. pinnatifolia calli. Results: Among the 11 fungal groups, Valsa sp, isolated from wild S. pinnatifolia, emerged as a promising fungal elicitor for promoting sesquiterpene accumulation in S. pinnatifolia. This conclusion is drawn from the production of a humulane-type sesquiterpene, known to be one of the most prevalent subtypes of sesquiterpenes in S. pinnatifolia. In addition, it was demonstrated that methyl jasmonate and salicylic acid displayed little effect on sesquiterpene accumulation in S. pinnatifolia. Conclusions: The findings of this study lay a foundation for using fungal endophytes to promote sesquiterpene production in S. pinnatifolia. This contribution could subsequently advance the development of the local traditional medicine industry and aid in the protection of wild S. pinnatifolia.
2.Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson’s Disease in a Taiwanese Population: An 11-Year Follow-Up Study
Sung-Pin FAN ; Yih-Chih KUO ; Ni-Chung LEE ; Yin-Hsiu CHIEN ; Wuh-Liang HWU ; Yu-Hsuan HUANG ; Han-I LIN ; Tai-Chung TSENG ; Tung-Hung SU ; Shiou-Ru TZENG ; Chien-Ting HSU ; Huey-Ling CHEN ; Chin-Hsien LIN ; Yen-Hsuan NI
Journal of Movement Disorders 2023;16(2):168-179
Objective:
aaWilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes in a large WD cohort.
Methods:
aaMedical records of WD patients diagnosed from 2006–2021 at National Taiwan University Hospital were retrospectively evaluated for clinical presentations, neuroimages, genetic information, and follow-up outcomes.
Results:
aaThe present study enrolled 123 WD patients (mean follow-up: 11.12 ± 7.41 years), including 74 patients (60.2%) with hepatic features and 49 patients (39.8%) with predominantly neuropsychiatric symptoms. Compared to the hepatic group, the neuropsychiatric group exhibited more Kayser-Fleischer rings (77.6% vs. 41.9%, p < 0.01), lower serum ceruloplasmin levels (4.9 ± 3.9 vs. 6.3 ± 3.9 mg/dL, p < 0.01), smaller total brain and subcortical gray matter volumes (p < 0.0001), and worse functional outcomes during follow-up (p = 0.0003). Among patients with available DNA samples (n = 59), the most common mutations were p.R778L (allelic frequency of 22.03%) followed by p.P992L (11.86%) and p.T935M (9.32%). Patients with at least one allele of p.R778L had a younger onset age (p = 0.04), lower ceruloplasmin levels (p < 0.01), lower serum copper levels (p = 0.03), higher percentage of the hepatic form (p = 0.03), and a better functional outcome during follow-up (p = 0.0012) compared to patients with other genetic variations.
Conclusion
aaThe distinct clinical characteristics and long-term outcomes of patients in our cohort support the ethnic differences regarding the mutational spectrum and clinical presentations in WD.

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