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Abstract: The implementation of the National Health Insurance has transformed the medical care landscape in Taiwan, rendering perceived medical service quality (PMSQ) and patient satisfaction significant focal points in medical care management. Past studies mostly focused on the technical aspects of medical care services, while overlooking the patients' perception of services and the delivery process of PMSQ in the medical care experience. This study integrated the theoretical framework of the Donabedian SPO model and the SERVQUAL questionnaire. The survey was conducted among the outpatients of three types of medical institutions in northern Taiwan: academic medical centers, metropolitan hospitals, and local community hospitals. A total of 400 questionnaires were collected, and 315 valid questionnaires remained after eliminating the incomplete ones. This study established a PMSQ delivery model to explore patients' perceptions of medical service quality. It was found that the variable, Assurance, could deliver the PMSQ and enhance the Medical outcome (MO), while improving the variable, Tangible, in medical institutions could not significantly enhance the MO. These findings emphasize the importance of healthcare institutions prioritizing the professional background, demeanor of their healthcare staff, treatment methods, and processes over tangible elements., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the National Association for Healthcare Quality.)

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.)

Background: We conducted this study to evaluate the characteristics of the infectious fluid in soft tissue infection and investigate the utility of the biochemical tests and Gram stain smear of the infectious fluid in distinguishing necrotizing soft tissue infection (NSTI) from cellulitis., Methods: This retrospective cohort study was conducted in a tertiary care hospital in Taiwan. From April 2019 to October 2020, patients who were clinically suspected of NSTI with infectious fluid accumulation along the deep fascia and received successful ultrasound-guided aspiration were enrolled. Based on the final discharge diagnosis, the patients were divided into NSTI group, which was supported by the surgical pathology report, or cellulitis group. The t test method and Fisher's exact test were used to compare the difference between two groups. The receiver-operator characteristic (ROC) curves and area under the ROC curve (AUC) were used to evaluate the discriminating ability., Results: Total twenty-five patients were enrolled, with 13 patients in NSTI group and 12 patients in cellulitis group. The statistical analysis showed lactate in fluid (AUC = 0.937) and LDH in fluid (AUC = 0.929) had outstanding discrimination. The optimal cut-off value of fluid in lactate was 69.6 mg/dL with corresponding sensitivity of 100% and specificity of 76.9%. The optimal cut-off value of fluid in LDH was 566 U/L with corresponding sensitivity of 83.3% and a specificity of 92.3%. In addition, albumin in fluid (AUC = 0.821), TP in fluid (AUC = 0.878) and pH in fluid (AUC = 0.858) also had excellent diagnostic accuracy for NSTI. The Gram stain smear revealed 50% bacteria present in NSTI group and all the following infectious fluid culture showed bacteria growth., Conclusions: The analysis of infectious fluid along the deep fascia might provide high diagnostic accuracy to differentiate NSTI from cellulitis., (© 2022. The Author(s).)

The COVID-19 pandemic has significantly impacted everyone's lives, challenging us in ways that can be frustrating, daunting, and intensely emotive. This qualitative study explored the isolation experiences of patients with COVID-19 in a hospital in northern Taiwan. We collected data from nine patients in June-July 2020, conducting semi-structured, virtual face-to-face, in-depth interviews to gather input on two topics: (1) the psychological effect of hospital isolation on patients, including the psychological burden, stress response, support, disease stigma, and fear of returning to society; and (2) the patients' cognition and behaviors, which included tracking epidemic information, monitoring disease progression, soliciting suggestions about hospital isolation, and gauging comprehension after recovery. The results confirmed that hospital isolation significantly impacts patients physically, psychologically, spiritually, and socially. Thus, the isolated patients faced the dual challenges of fighting, adapting to, and recovering from the disease itself and struggling in isolation to maintain positive beliefs, independently assess their condition, and gain strength from the knowledge of continuing social support., (© 2021 John Wiley & Sons Australia, Ltd.)

Background: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by mutations in the ABCD1 gene. The clinical manifestations of ALD vary widely with some patients presenting with adrenomyeloneuropathy (AMN) that resembles the phenotype of hereditary spastic paraplegia (HSP). The aim of this study is to investigate the frequency, spectrum, and clinical features of ABCD1 mutations in Taiwanese patients with HSP phenotype., Methods: Mutational analysis of the ABCD1 gene was performed in 230 unrelated Taiwanese patients with clinically suspected HSP by targeted resequencing. Clinical, electrophysiological, and neuroimaging features of the patients carrying an ABCD1 pathogenic mutation were characterized., Results: Ten different ABCD1 mutations were identified in eleven patients, including two novel mutations (p.Q177Pfs*17 and p.Y357*) and eight ever reported in ALD cases of other ethnicities. All patients were male and exhibited slowly progressive spastic paraparesis with onset ages ranging from 21 to 50 years. Most of them had additional non-motor symptoms, including autonomic dysfunction in nine patients, sensory deficits in seven, premature baldness in seven, skin hyperpigmentation in five, psychiatric symptoms in one and cerebellar ataxia in one. Seven of the ten patients who ever received nerve conduction studies showed axonal polyneuropathy. Magnetic resonance imaging (MRI) revealed diffuse spinal cord atrophy in seven patients, cerebral white matter hyperintensity in one patient, and cerebellar involvement in one patient., Conclusions: ABCD1 mutations account for 4.8% (11/230) of the cases with HSP phenotype in Taiwan. This study highlights the importance to consider ABCD1 mutations in patients with clinically suspected HSP of unknown genetic causes., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Background: We conducted this study to promote a modified Laboratory Risk Indicator for Necrotizing Fasciitis (MLRINEC) score and evaluate the utility in distinguishing necrotizing fasciitis (NF) from other soft-tissue infections., Method: A retrospective cohort study of hospitalized patients with NF diagnosed by surgical finding was conducted in two tertiary hospital in southern Taiwan between January 2015 and January 2020. Another group was matched by controls with non-necrotizing soft tissue infections based on time, demographics, and immune status. Data such as infectious location, comorbidities, and laboratory findings were recorded and compared. Logistics regression were used to determine the association with NF after adjustment for confounders and MLRINEC score was developed by then. Receiver operating curve (ROC) and the area under the curve (AUC) were used to evaluate its discriminating ability., Result: A total of 303 patients were included; 101 in NF group and 202 in non-NF group. We added serum lactate and comorbid liver disease to the original LRINEC score and re-defined the cut-off values for 3 variables to develop the MLRINEC score. The cut-off value for MLRINEC score was 12 points with corresponding sensitivity of 91.8% and a specificity of 88.4%, and the area under ROC (AUC) was 0.893 (95% CI, 0.723 to 0.948; p < 0.01)., Conclusion: MLRINEC score shows a high sensitivity and specificity in distinguishing NF from non-necrotizing soft-tissue infections. Patients with a MLRINEC score > 12 points should be highly suspected of presence of necrotizing fasciitis.

The role of the difference and ratio of albuminuria (urine albumin-to-creatinine ratio, uACR) and proteinuria (urine protein-to-creatinine ratio, uPCR) has not been systematically evaluated with all-cause mortality. We retrospectively analyzed 2904 patients with concurrently measured uACR and uPCR from the same urine specimen in a tertiary hospital in Taiwan. The urinary albumin-to-protein ratio (uAPR) was derived by dividing uACR by uPCR, whereas urinary non-albumin protein (uNAP) was calculated by subtracting uACR from uPCR. Conventional severity categories of uACR and uPCR were also used to establish a concordance matrix and develop a corresponding risk matrix. The median age at enrollment was 58.6 years (interquartile range 45.4-70.8). During the 12,391 person-years of follow-up, 657 deaths occurred. For each doubling increase in uPCR, uACR, and uNAP, the adjusted hazard ratios (aHRs) of all-cause mortality were 1.29 (95% confidence interval [CI] 1.24-1.35), 1.12 (1.09-1.16), and 1.41 (1.34-1.49), respectively. For each 10% increase in uAPR, it was 1.02 (95% CI 0.98-1.06). The linear dose-response association with all-cause mortality was only observed with uPCR and uNAP. The 3 × 3 risk matrices revealed that patients with severe proteinuria and normal albuminuria had the highest risk of all-cause mortality (aHR 5.25, 95% CI 1.88, 14.63). uNAP significantly improved the discriminative performance compared to that of uPCR (c statistics: 0.834 vs. 0.828, p-value = 0.032). Our study findings advocate for simultaneous measurements of uPCR and uACR in daily practice to derive uAPR and uNAP, which can provide a better mortality prognostic assessment.

Study Objective: Necrotizing fasciitis (NF) is an uncommon life-threatening necrotizing skin and soft tissue infection. Bullae are special skin manifestations of NF. This study was conducted to analyze the differences between different types of bullae of limbs with NF for providing the information to emergency treatment., Methods: From April 2015 to August 2018, patients were initially enrolled based on surgical confirmation of limbs with NF. According to the presence of different bullae types, patients were divided into no bullae group (Group N), serous-filled bullae group (Group S), and hemorrhagic bullae group (Group H). Data such as demographics, clinical outcomes, microbiological results, presenting symptoms/signs, and laboratory findings were compared among these groups., Results: In total, 187 patients were collected, with 111 (59.4%) patients in Group N, 35 (18.7%) in Group S, and 41 (21.9%) in Group H. Group H had the highest incidence of amputation, required intensive care unit care, and most patients infected with Vibrio species. In Group N, more patients were infected with Staphylococcus spp. than Group H. In Group S, more patients were infected with β-hemolytic Streptococcus than Group H. Patients with bacteremia, shock, skin necrosis, anemia, and longer prothrombin time constituted higher proportions in Group H and S than in Group N., Conclusions: In southern Taiwan, patients with NF accompanied by hemorrhagic bullae appear to have more bacteremia, Vibrio infection, septic shock, and risk for amputation. If the physicians at the emergency department can detect for the early signs of NF as soon as possible, and more patient's life and limbs may be saved.

Objective: Acute bacterial skin and skin structure infection (ABSSSI) is a common cause of acute admissions in patients with cirrhosis worldwide, but the disease is not well-understood epidemiologically with respect to factors that determine positive blood cultures or patient mortality. The aim of this study was to understand the utility of blood cultures and the association between bacteremia and mortality in cirrhotic patients with ABSSSI. We conducted a retrospective study to investigate factors associated with positive blood cultures and mortality in cirrhotic patients with ABSSSI., Methods: A retrospective cohort study of hospitalized adult cirrhotic patients with ABSSSI was conducted in a tertiary hospital in Taiwan between March 2015 and December 2016., Results: A total of 122 hospitalized cirrhotic patients with ABSSSI were included. The overall mortality rate was 9% (11/122), and 23 patients had positive blood culture results. Comorbidities that were significant risk factors for a positive blood culture included diabetes mellitus, acute kidney injury (AKI), and acute-on-chronic liver failure (ACLF). Significant risk factors evident in laboratory evaluations included higher model for end-stage liver disease (MELD) score, higher serum lactate, and lower serum albumin level. Bacteremia was also a significant factor associated with mortality., Conclusion: A blood culture should be considered for cirrhotic patients with ABSSSI with diabetes mellitus, AKI, ACLF or those exhibiting abnormal albumin, lactate levels, or high MELD score because of the positive correlation between bacteremia and mortality.

Background: Necrotizing fasciitis (NF) is a rare and life-threatening necrotizing skin and soft-tissue infection. Infectious pathogens of NF must be detected early and treated rapidly to prevent loss of limb or a fatal outcome. This study aimed to detect more reliable predictors between gram-negative and gram-positive monomicrobial NF of limbs., Methods: A total of 100 patients with limb monomicrobial NF were diagnosed prospectively from April 2015 to July 2018. These monomicrobial NF pathogens can be divided into gram-negative and gram-positive groups according to the result of Gram staining and final bacterial reports. Data such as demographics, seawater or seafood contact history, infectious location, comorbidities, presenting signs and symptoms, and laboratory findings were recorded and compared., Results: A total of 55 patients were infected with gram-negative organisms and 45 patients with gram-positive organisms. Among the 55 cases of monomicrobial gram-negative NF, 48 (87.3%) were caused mainly by Vibrio spp. (38, 69.1%) and Aeromonas spp. (10, 18.2%). A higher incidence of chronic kidney disease, cerebrovascular accident, tachypnea, and septic shock; a higher rate of band forms of leukocytes of more than 3%, serum lactate of more than 20 mg/dL, and C-reactive protein level of less than 150 mg/dL; prolonged prothrombin time; and a lower fibrinogen level were observed in patients with gram-negative infection. In a multivariate analysis, a higher incidence of seawater or seafood contact history (odds ratio [OR]: 66.301; 95% confidence interval [CI]: 7.467-588.702), a higher rate of hyperlactatemia (OR: 7.904; 95% CI: 1.231-50.744), and a low fibrinogen level (OR: 1.013; 95% CI: 1.004-1.023) indicated gram-negative infection., Conclusions: In southern Taiwan, NF of limbs mainly affected the lower limbs, exhibited monomicrobial infection, and was predominated by gram-negative bacteria. Gram-negative monomicrobial NF of limbs often occurred in individuals with the more seawater or seafood contact history, hyperlactatemia, and low fibrinogen levels.

Background: Although the Taiwan government has subsidized the provision of palliative care at home since 2000, the utilization rate of this service has been low., Purpose: The purpose of this research is to explore the experiences of palliative care at home as perceived by family caregivers., Methods: This qualitative study used semi-structured interviews to collect the data. Six family caregivers who had been providing home-based palliative care services for at least 2 weeks were invited to participate., Results: Four themes related to the care experiences of the participants emerged: (1) Choosing palliative care at home for the end-of-life journey: Considering the wishes of patients and the capacities of caregivers, with hospitals providing powerful support to caregivers; (2) Facing the burdens of providing palliative care in a home setting: Determining the caring skills while feeling fear and stress, and needing to resolve this stress and achieve a respite; (3) Pursuing stable home palliative care: Relying on consultations with the professional palliative care team for information, support, and insights regarding the value of home palliative care; and (4) Fulfilling the promise of a good death at home: Preparing the patient to say goodbye and to experience a peaceful death and family members to express their sadness and adapt to a new life., Conclusions / Implications for Practice: Home palliative care services help provide patients and their families convenience, intimate care, and reassurance at home. However, all caregivers must be properly trained in caring skills and the skills necessary to sustain their long-term care responsibilities. Home palliative care services have been described as the internal and external needs that patients and families require to maintain a stable quality of life and as the comfort required by the bereaved family members. The findings of this study demonstrate the value of home palliative care and of promoting home palliative care at the end of life.

Introduction: Mutations in the PUM1 gene were recently identified to cause spinocerebellar ataxia type 47 (SCA47). However, their role in cerebellar ataxia in various populations remains elusive. The aim of this study was to elucidate the frequency and spectrum of PUM1 mutations in a cohort of Taiwanese patients with molecularly undetermined cerebellar ataxia., Methods: Mutational analyses of PUM1 were performed by Sanger sequencing in a cohort of 248 unrelated patients with cerebellar ataxia of unknown cause, including 108 with autosomal-dominantly inherited cerebellar ataxia, 45 with autosomal-recessively inherited cerebellar ataxia, and 95 with apparently sporadic cerebellar ataxia. Among them, the genetic causes of ataxia remained unknown after excluding mutations responsible for SCA1, 2, 3, 6, 7, 8, 10, 12, 17, 19/22, 23, 26, 27, 28, 31, 35, 36, dentatorubral-pallidoluysian atrophy and Friedreich's ataxia., Results: Two heterozygous missense PUM1 variants were identified in two patients with apparently sporadic cerebellar ataxia, including a known disease-causing mutation (p.R1139W) and a variant of uncertain significance (p.K151R). The patient carrying the p.R1139W mutation had a slowly progressive, relatively pure cerebellar ataxia, presenting with gait unsteadiness, limb dysmetria, ataxic dysarthria and saccadic pursuit., Conclusion: Our findings support the pathogenic role of PUM1 mutations in cerebellar ataxia and emphasize the importance of considering PUM1 mutations as a possible etiology of cerebellar ataxia., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Acute bacterial skin and skin structure infections (ABSSSI) is a common cause of acute admissions worldwide, but the disease is not well understood epidemiologically with respect to factors that determine positive blood cultures or patient mortality. To understand the utility of blood cultures and the association between bacteremia and mortality in patients with ABSSSI, we conducted a retrospective study to investigate factors associated with positive blood cultures and mortality in patients with ABSSSI. A retrospective cohort study of hospitalized adult patients with ABSSSI was conducted in a tertiary hospital in Taiwan between March 2015 and December 2016. A total of 1322 hospitalized patients with ABSSSI are included. The overall mortality rate is 2.1% (28/1322), and 122 patients had positive blood culture results. Comorbidities that are significant risk factors for a positive blood culture include diabetes mellitus and chronic kidney disease. Significant risk factors evident in laboratory evaluations include high C-reactive protein (CRP) level (> 20 mg/dL), hyperglycemia, and hypoalbuminemia. Bacteremia is also a significant factor associated with mortality. A blood culture should be considered for patients with ABSSSI with diabetes mellitus or chronic kidney disease or those exhibiting abnormal CRP, glucose, or albumin levels because of the positive correlation between bacteremia and mortality.

Background: Sodium bicarbonate administration is mostly restricted to in-hospital use in Taiwan. This study was conducted to investigate the effect of sodium bicarbonate on outcomes among patients with out-of-hospital cardiac arrest (OHCA)., Methods: This population-based study used a 16-year database to analyze the association between sodium bicarbonate administration for resuscitation in the emergency department (ED) and outcomes. All adult patients with OHCA were identified through diagnostic and procedure codes. The primary outcome was survival to hospital admission and secondary outcome was the rate of death within the first 30days of incidence of cardiac arrest. Cox proportional-hazards regression, logistic regression, and propensity analyses were conducted., Results: Among 5589 total OHCA patients, 15.1% (844) had survival to hospital admission. For all patients, a positive association was noted between sodium bicarbonate administration during resuscitation in the ED and survival to hospital admission (adjusted odds ratio [OR]: 4.47; 95% confidence interval [CI]: 3.82-5.22, p<0.001). In propensity-matched patients, a positive association was also noted (adjusted OR, 4.61; 95% CI: 3.90-5.46, p<0.001)., Conclusions: Among patients with OHCA in Taiwan, administration of sodium bicarbonate during ED resuscitation was significantly associated with an increased rate of survival to hospital admission., (Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Necrotizing fasciitis (NF) is a rapidly progressive infectious disease that primarily involves the fascia and subcutaneous tissue. If not promptly treated, it can lead to morbidity as well as mortality. It can affect any part of the body, most commonly the extremities. Early and aggressive surgical treatment is the proper way of management. The purpose of this study was to identify the risk factors for mortality in late amputation among NF patients that may be used in routine clinical practice to prevent mortality., Methods: A retrospective cohort study of hospitalized patients with NF was conducted in a tertiary teaching hospital in Taiwan between March 2015 and March 2018. All collected data were statistically analyzed., Results: A total of 582 patients with NF were included; 35 of them had undergone amputation (7 primary and 28 late amputations), with a 6% amputation rate. Thirteen amputated patients still died eventually (all in the late amputation group). Significant risk factors for mortality identified in the late amputation group included hemorrhagic bullae ( p  = 0.001, OR 4.7, 95% confidence interval (CI) 2.68-8.69), peripheral vascular disease ( p  < 0.001, OR 3.2, 95% CI 1.12-10.58), bacteremia ( p  = 0.021, OR 2.87, 95% CI 2.07-5.96), and Laboratory Risk Indicator of Necrotizing Fasciitis (LRINEC) score > 8 ( p  < 0.001, OR 1.97, 95% CI 1.28-4.61). Vibrio vulnificus was the main causative organism based on our study, but the microbiology results showed no significant correlation., Conclusion: NF patients with hemorrhagic bullae, comorbidity with peripheral vascular disease, presence of bacteremia, or LRINEC score > 8 should receive early and primary amputation in order to prevent mortality., Competing Interests: The institutional review board of our hospital approved this retrospective study (100-4178B). Consent to participate was not applicable.Not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22 in Han-Chinese population residing in Taiwan, 53 patients with molecularly unassigned demyelinating CMT and 52 patients with HNPP-like neuropathy of unknown genetic causes were screened for PMP22 mutations by Sanger sequencing. Three point mutations were identified in four patients with demyelinating CMT, including c.256 C > T (p.Q86X) in two, and c.310delA (p.I104FfsX7) and c.319 + 1G > A in one each. One PMP22 missense mutation, c.124 T > C (p.C42R), was identified in a patient with HNPP-like neuropathy. The clinical presentations of these mutations vary from mild HNPP-like syndrome to severe infantile-onset demyelinating CMT. In vitro analyses revealed that both PMP22 p.Q86X and p.I104FfsX7 mutations result in truncated PMP22 proteins that are almost totally retained within cytosol, whereas the p.C42R mutation partially impairs cell membrane localization of PMP22 protein. In conclusion, PMP22 point mutations account for 7.5% and 1.9% of demyelinating CMT and HNPP patients with unknown genetic causes, respectively. This study delineates the clinical and molecular features of PMP22 point mutations in Taiwan, and emphasizes their roles in demyelinating CMT or HNPP-like neuropathy.

Mutations in the TBK1 gene were just recently identified to cause amyotrophic lateral sclerosis (ALS), and their role in ALS in various populations remains unclear. The aim of this study was to determine the frequency and spectrum of mutations in TBK1 in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of TBK1 were carried out by direct nucleotide sequencing in a cohort of 207 unrelated patients with ALS. Among them, the genetic diagnoses of 168 patients remained elusive after mutations in SOD1, C9ORF72, TARDBP, FUS, ATXN2, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, HNRNPA2B1, MATR3, CHCHD10, and TUBA4A had been excluded. We identified one nonsense mutation, p.R444X (c.1330C>T), in one patient with apparently sporadic ALS-frontotemporal dementia. In vitro functional study demonstrated the p.R444X mutation resulting in a truncated TANK-binding kinase 1 (TBK1) protein product, low protein expression, and loss of kinase function and interaction with optineurin. The frequency of TBK1 mutations in ALS patients in Taiwan is, therefore, approximately 0.5% (1/207). This study reports a novel TBK1 mutation and stresses on the importance to consider TBK1 mutation as a possible etiology of ALS., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan., Methodology and Principal Findings: Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 with distal hereditary motor neuropathy (dHMN), who were selected from 348 unrelated patients with inherited neuropathies, were screened for mutations in the coding regions of BSCL2. Two heterozygous BSCL2 mutations, p.S90L and p.R96H, were identified, of which the p.R96H mutation is novel. The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. In vitro studies demonstrated that the p.R96H mutation results in a remarkably low seipin expression and reduced cell viability., Conclusion: BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with dHMN. This study expands the molecular spectrum of BSCL2 mutations and also emphasizes the pathogenic role of BSCL2 mutations in molecularly unassigned hereditary neuropathies.

Background & Aims: Higher levels of leptin and homocysteine (Hcy) have been evaluated as risk factors of chronic kidney disease in patients and general population. The aim of this study was to examine gender differences in the associations of leptin and Hcy levels and renal function a representative healthy young population in Taiwan., Methods: The participants aged ≥18 years who underwent health examinations were included and categorized into three groups by gender-specific tertiles of leptin and Hcy levels. Estimated glomerular filtration rates (eGFR) were estimated according to the modified equation of Modification of Diet in Renal Disease (MDRD)., Results: A higher mean Hcy level was found in male subjects than females. Mean values of metabolic syndrome risk factors significantly elevated with increasing leptin levels in both genders. Both male and female subjects with higher plasma Hcy levels were more likely to have a lower eGFR. Plasma Hcy levels were significantly negatively correlated with eGFR in linear regression models adjusted for age and smoking. The associations persisted even after mean arterial pressure and fasting plasma glucose were included for adjustments both genders. Plasma Hcy level was negatively associated eGFR and the association was more profound for females., Conclusions: Leptin levels did not reveal strong or consistent evidence to support a significant association with eGFR. Hcy had a more decisive effect on renal function impairment than leptin and may be considered a more sensitive biomarker for Taiwanese adults., (Copyright © 2014 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.)

Chronic kidney disease (CKD) is a worldwide health issue with heavy economic burden. Chronic hepatitis C virus (HCV) infection is a common cause of CKD, which can significantly impact the progression and mortality among patients with CKD. The prevalence of both illnesses is high in Taiwan. A multicentre and population-based cross-sectional study including 24 642 subjects was conducted to explore the association of HCV infection with the prevalence and severity of CKD. The measurements of metabolic parameters, eGFR and CKD stages were compared between subjects with HCV seropositivity and seronegativity. The analyses of association between HCV infection with CKD stages and evaluation of potential risk factors of CKD were performed by gender and age (≤ and >45 years). HCV-seropositive subjects accounted for 6.9% and had a significantly older age. The prevalence of CKD increased in those with HCV seropositivity (16.5%). Significantly higher prevalence of CKD stages ≥3 in HCV-seropositive subjects was noticed (7.8%). Age (>45 year), male gender, alcohol drinking, hypertension, creatinine and HCV infection were the significant factors associated with the presence of CKD. HCV seropositivity was an independent risk factor of developing CKD and associated with an increased risk of having CKD of all stages. The higher prevalence of earlier stage of CKD warrants longitudinal studies with frequent testing on renal function and sufficient duration to determine the changes of eGFR over time. Implementation of effective treatment intervention is also required for these subjects to prevent the progression of CKD to late stages., (© 2013 John Wiley & Sons Ltd.)

Background: Obesity, metabolic syndrome (MS) and chronic kidney disease (CKD) are all becoming increasingly prevalent worldwide. Body mass index (BMI) has traditionally been employed to identify overweight or obese individuals, yet multiple studies have yielded conflicting results when BMI was used to evaluate the association between obesity and CKD., Aims: The purpose of this large, population-based, multicentre study was to evaluate the associations of BMI and waist-to-height ratio (WHtR) with CKD., Methods: A retrospective study of 41,600 subjects who had physical examinations from January 2010 to December 2011 was performed. Data such as life style and habits were collected by interviews, and systolic and diastolic blood pressure (SBP and DBP), height, body weight, waist circumference, total cholesterol (TC), high-density lipoproteins (HDL), triglycerides (TG), fasting blood glucose and creatinine levels were measured. The association of these factors with CKD was analysed by use of SPSS 15.0 software., Results: The key findings of this study were that WHtR but not BMI was an independent predictor of CKD. Additionally, SBP was a predictor of CKD in males and females, and TG and TC were independent predictors of CKD in females. Such measures are components of MS, which may also be associated with the development of CKD., Conclusion: WHtR appears to be a better measure of central obesity than BMI, and is an easy-to-use, noninvasive tool for identifying individuals at risk of developing obesity-related CKD, and potentially also MS-related CKD., (© 2014 The Authors; Internal Medicine Journal © 2014 Royal Australasian College of Physicians.)

Objective: To investigate the psychometric properties and relationships of perceived service quality, perceived value and overall satisfaction for residents with respect to their long-term care institutions., Design: The five-point Likert scale questionnaire administered through facetoface interviews., Setting: Fourteen long-term care institutions located in central and southern Taiwan stratified according to services and accommodation population., Participants: One hundred and eighty long-term institutional care residents., Main Outcome Measures: Perceived service quality (the SERVPERF model), perceived value and overall satisfaction (models based on the literature on perceived value and satisfaction)., Results: Student's t-test on institutional location shows a significant difference between overall satisfaction for central and southern institution long-term care recipients. The correlation test revealed that the higher a resident's level of education, the higher the scores for perceived value. The factor loading results of confirmation factor analysis show acceptable levels of reliability and index-of-model fits for perceived service, perceived value and overall satisfaction. In addition, the results suggest that an additional construct, a positive attitude (happiness of outlook) towards long-term care institutions, is also an important factor in residents' overall satisfaction., Conclusion: The primary goal of long-term institutional care policy in Taiwan, as in other countries, is to provide residents with practical, cost-effective but high-quality care. On the basis of the results of in-depth interviews with long-term institutional care residents, this study suggests long-term care institutions arrange more family visit days to increase the accessibility and interaction of family and residents and thereby increase the happiness of outlook of the residents., (© 2012 John Wiley & Sons Ltd.)

Background/aims: This study aimed to evaluate the effectiveness of homocysteine and C-reactive protein (CRP) as potential markers for chronic kidney disease (CKD) in adults in Taiwan, and to identify associations between these factors and CKD, stratifying by gender., Methods: This cross-sectional study analyzed multi-center data retrospectively. Data were collected from 22,043 adult Taiwanese at Chang-Gung Memorial Hospital from 2005 to 2011. Smoking/drinking history, personal medical/medication history, pregnancy, fasting times as well as laboratory parameters, including homocysteine and CRP were measured and analyzed., Results: Significant differences were observed between four homocysteine and CRP quartiles in eGFR and CKD. For males, only one model showed significant associations between plasma homocysteine and CKD, while in females, all three models showed significant associations with CKD. On the contrary, the gender difference in the case of CRP was opposite. Combined homocysteine and CRP were associated with CKD in males but not in females., Conclusion: Among Taiwanese adults, plasma homocysteine is associated with CKD in females and plasma hsCRP is associated with CKD in males. High hsCRP/high homocysteine is associated with elevated CKD risk in male. Our results suggest that homocysteine and hsCRP may be useful surrogate markers for evaluating CKD risk in adults., (© 2013 S. Karger AG, Basel.)

Background: In this study, we attempted to identify differences in the outcomes of patients with severe trauma who were directly transported to our hospital, and those who were stabilised initially at other hospitals in south-central Taiwan., Methods: We performed a prospective observational study to review the records of 231 patients with major trauma (Injury Severity Scores (ISS) >15) who visited our hospital's emergency department from January 2010 to December 2010. Among these patients, 75 were referred from other hospitals. Logistic regression was performed to assess the effects of transfer on mortality., Results: Patients in the transfer group had a shorter interval between trauma and admission to the first hospital (25.3 min vs. 28.1 min), and the average interval between the two hospital arrivals was 138.3 min. Transfer from another hospital was not significantly correlated with mortality in this study (odds ratio: 1.124, 95% confidence interval: 0.276-4.578)., Conclusion: In trauma patients with ISS>15, there is no difference in mortality between those transferred from another hospital after initial stabilisation and those who visited our emergency department directly., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

It has been found that the hemostatic system is activated following a brain injury. To explore the role of D-dimer in spontaneous intracerebral hemorrhage (ICH), this prospective study aimed to evaluate the association between serum D-dimer concentration, clinical outcome and radiographic findings of ICH patients in the emergency department (ED). Patients with acute (<24 hours) spontaneous ICH were enrolled in this study. The D-dimer concentration was related to: baseline ICH volume (r=0.198, p=0.01); Glasgow Coma Scale (GCS) score 3-8 (p=0.01); GCS score 13-15 (p=0.002); midline shift >15 mm (p=0.016); and to subarachnoid extension of the blood (p<0.0001). Diabetes mellitus (odds ratio [OR]: 2.93; 95% confidence interval [CI]: 1.1-7.76, p=0.031), ICH volume (OR: 1.16; 95% CI: 1.07-1.27, p<0.0001) and D-dimer concentration (OR: 2.72; 95% CI: 1.08-6.9, p=0.002) were associated with 30-day mortality. This study shows that in patients with spontaneous ICH, a higher initial D-dimer concentration is associated with higher 30-day mortality., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Objective: This study attempted to identify any differences between the outcomes of patients with severe traumatic brain injury (TBI) who were directly transported to Chang Gung Memorial Hospital and those who were stabilised initially at other hospitals in south-central Taiwan., Methods: A retrospective review of the records of 254 patients with isolated severe TBI who visited this hospital's emergency department from July 2003 to June 2008, of whom 167 were referred from other hospitals. Logistic regression was used to assess the effects of transfer and its components on mortality., Results: Transfer from another hospital was not significantly correlated with mortality in this study (OR 0.513, 95% CI 0.240 to 1.097). Moreover, neither intubation (OR 1.356, 95% CI 0.445 to 4.133) nor transfer time over 4 h (OR 0.549, 95% CI 0.119 to 1.744) had a significant effect on mortality., Conclusion: No differences in outcome were found between patients with isolated severe TBI who were directly transported and those transferred to this hospital's emergency room.

This study looked at spectral analysis of heart rate variability (HRV) between patients with type 2 diabetes mellitus (DM) and healthy controls. The association between diabetic autonomic neuropathy (DAN) with HRV parameter changes and DM risk factors (including nephropathy) was investigated. HRV parameters were compared between 271 patients with DM and 160 controls. A statistically significant difference was found between the two groups for each parameter. Patients with DM were then divided into three groups by the levels of individual risk factors: body mass index, total cholesterol, 2-h postprandial plasma glucose concentration, glycosylated haemoglobin, duration of DM and the albumin-creatinine ratio. HRV parameters decreased significantly in patients with DM as the risk factor level progressed. This study identified previously known and new potential risk factors for the development of DAN, which may be important for the development of risk reduction strategies.

Background: The aim of this study was to assess the outsourcing situation in Taiwanese hospitals and compares the differences in hospital ownership and in accreditation levels., Methods: This research combined two kinds of methods: a questionnaire survey and the in-depth interview to two CEOs of the sample hospitals. One hospital is not-for-profit, while the other is a public hospital and the research samples are from the hospital data from Taiwan's 2005 to 2007 Department of Health qualifying lists of hospital accreditation. The returned questionnaires were analyzed with STATISTICA 7.1 version software., Results: The results for non-medical items showed medical waste and common trash both have the highest rate (94.6 percent) of being outsourced. The gift store (75 percent) and linen (73 percent) follow close behind, while the lowest rate of outsourcing is in utility maintenance (13.5 percent). For medical items, the highest rate of outsourcing is in the ambulance units (51.4 percent), while the hemodialysis center follows close behind with a rate of 50 percent. For departments of nutrition, pharmacy, and nursing however, the outsourcing rate is lower than 3 percent. This shows that Taiwan's hospitals are still conservative in their willingness to outsource for medical items. The results of the satisfaction paired t-test show that the non-medical items have a higher score than the medical items. The factor analysis showed the three significant factors in of non medical items' outsourcing are "performance", "finance", and "human resource". For medical items, the two factors are "operation" and satisfaction". To further exam the factor validity and reliability of the satisfaction model, a confirmative factor analysis (CFA) was conducted using structure equation modeling (SEM) method and found the model fitting well., Conclusion: Hospitals, especially for public hospitals, can get benefits from outsourcing to revive the full-time-equivalent and human resource limitation.

Background: Laboratory risk indicator for necrotizing fasciitis (LRINEC score) is a simple laboratory tool used to distinguish between necrotizing soft-tissue infections (NSTI) and other soft-tissue infections. A LRINEC score of > or =6 is considered as denoting a high risk of necrotizing fasciitis. A certain LRINEC score might also be associated with mortality and other outcomes of patients with NSTI., Methods: A review of the medical charts of patients was carried out. The study sites were one tertiary academic centre and one community, university-affiliated hospital. All adult patients with necrotizing soft-tissue infections from 2002 to 2005 were selected then LRINEC scores were calculated for each patient. We enrolled patients where there was sufficient information to determine that the LRINEC score was either <6 or > or =6., Results: A total of two hundred and nine patients were enrolled and analysed. The overall mortality rate was 33 of 209 (15.8%) and amputation rate was 55 of 209 (26.3%). The amputation rates were defined as numbers of patients who received amputation divided by numbers of total patients. Enrolled patients were divided into two groups. Group I was those whose LRINEC score was <6 and group II was those whose LRINEC score was > or =6. Significant differences in mortality rate (P = 0.04) and amputation rate (P = 0.002) were noted between two groups., Conclusion: The LRINEC score is associated with the outcomes of patients with NSTI. Patients with a LRINEC score of > or =6 have a higher rate of both mortality and amputation.

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.