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Background: The mitochondrial DNA m.3243A>G mutation can affect mitochondrial function and lead to a wide phenotypic spectrum, including mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, diabetes mellitus, hearing impairment, cardiac involvement, epilepsy, migraine, myopathy, and cerebellar ataxia. However, m.3243A>G has been rarely reported in patients with cerebellar ataxia as their predominant manifestation. The aim of this study is to investigate the prevalence and clinical features of m.3243A>G in a Taiwanese cohort of cerebellar ataxia with unknown genetic diagnosis., Methods: This retrospective cohort study conducted the mutation analysis of m.3243A>G by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) in 232 unrelated Han Chinese patients with genetically-undetermined cerebellar ataxia. The clinical presentation and neuroimaging features of patients with m.3243A>G mutation-related cerebellar ataxia were characterized., Results: We identified two patients harboring m.3243A>G mutation. These patients have suffered from apparently sporadic and slowly progressive cerebellar ataxia since age 52 and 35 years, respectively. Both patients had diabetes mellitus and/or hearing impairment. The neuroimaging studies revealed generalized brain atrophy with predominantly cerebellar involvement in both individuals and bilateral basal ganglia calcifications in one of the patients., Conclusion: Mitochondrial m.3243A>G mutation accounted for 0.9% (2/232) of genetically-undetermined cerebellar ataxia in the Han Chinese cohort in Taiwan. These findings highlight the importance of investigating m.3243A>G in patients with genetically-undetermined cerebellar ataxia., Competing Interests: Declaration of interest The authors disclose no conflicts of interest., (Copyright © 2023 Formosan Medical Association. Published by Elsevier B.V. All rights reserved.)

Background: Mutations in the neurofilament light polypeptide gene (NEFL) are an uncommon cause of Charcot-Marie-Tooth disease (CMT). The aim of this study is to elucidate the clinical characteristics and genetic spectrum of NEFL-related neuropathy in a Taiwanese CMT cohort., Methods: Mutational analysis of the coding regions of NEFL was performed by Sanger sequencing or targeted resequencing. Twenty-one patients from nine CMT pedigrees, identified from a cohort of 508 unrelated CMT patients, were found to have a NEFL mutation. Genetic, clinical and electrophysiological features were analyzed., Results: Six NEFL mutations were identified, including two novel ones (p.P8S, p.N98Y). NEFL p.E396K was the most common mutation, accounting for 33.3% of the patients in our cohort. All patients manifested sensorimotor polyneuropathy with a mean age of disease onset of 13.5 ± 9.6 (1-40) years. Their motor nerve conduction velocities (MNCVs) of the ulnar nerve ranged from 22.1 to 48.7 m/s. Seventy percent of the patients could be classified as intermediate CMT with ulnar MNCVs between 25 and 45 m/s. Six of the 21 patients (28.6%) had additional features of central nervous system (CNS) involvement, including motor developmental delay, spasticity, cerebellar signs, neuropathic pain and scoliosis., Conclusion: NEFL mutations account for 1.8% (9/508) of the CMT patients in Taiwan. The present study delineates the clinical and genetic characteristics of NEFL-related neuropathy in Taiwan, and highlights that ulnar MNCV above 25 m/s and CNS involvement may serve as diagnostic clues for NEFL-related neuropathy., (Copyright © 2022 Formosan Medical Association. Published by Elsevier B.V. All rights reserved.)

Background/purpose: The implementation of competency-based medical education is a social construction process within a local and cultural context. However, little is known about the process of adaptation to different systems, known as "glocalization". We analyzed the documents in the development of a milestone project from adapting global standards into a local context and identified a framework underlying this process., Methods: Taiwan Society of Emergency Medicine (TSEM) had developed learning milestones based on the ACGME's version through series of consensus methods including committee work, nominal group technique (NGT), and a modified Delphi method. We applied qualitative content analysis to characterize the evolution of the three versions of TSEM and the original ACGME milestones documents and to explore the meaning behind the differences revealed by the glocalization process., Results: We found 48 differences between ACGME and TSEM milestones. Among these differences, one was made by committee work, 44 came from NGT, and 3 were from the modified Delphi process. Two themes and seven sub-themes emerged from the coding process to explain the contextualization process of the milestones., Conclusion: We identified a framework that incorporates local expression and local needs into the process called glocalization through which global models of competency-based standards could be optimally implemented in a local context with different systems and cultures., Competing Interests: Declaration of competing interest FC Chou, CT Hsiao, and CW Yang are all members of Task Force of EM Model and Milestone (TEMM) of Taiwan Society of Emergency Medicine., (Copyright © 2021 Formosan Medical Association. Published by Elsevier B.V. All rights reserved.)

Leptospirosis, a zoonotic disease with worldwide distribution, is often overlooked in Taiwan. Clinicians at our medical center in southern Taiwan became alert to the potential for leptospirosis after the first documented case of severe leptospirosis--Weil's syndrome was diagnosed at our emergency department in early September 2000. Four additional cases of leptospirosis were subsequently diagnosed within a 2-month period. All of the patients were hospitalized, and presented with high fever, severe myalgia, jaundice, and acute renal failure. Two of these patients who rapidly received doxycycline therapy survived, while the remaining three patients who received delayed penicillin therapy died. These cases suggest that the incidence of leptospirosis may have been underestimated in Taiwan, and underscore the urgent need for increased clinician awareness of this infectious disease.