BACKGROUND: Tourette syndrome (TS) is a neurodevelopmental disorder characterized by motor and vocal tics. Several susceptibility loci associated with TS have been identified previously in populations of European descent using genome-wide association studies (GWAS). However, the exact pathogenic mechanism underlying TS is unknown; additionally, the results of previous GWAS for TS were based on Western populations, which may not translate to other populations. Therefore, we conducted a GWAS in Taiwanese patients with TS and chronic tic disorders (CTDs), with an aim to elucidate the genetic basis and potential risk factors for TS in this population.
METHODS: GWAS was performed on a Taiwanese TS/CTDs cohort with a sample size of 1,007 patients with TS and 25,522 ancestry-matched controls. Additionally, polygenic risk score was calculated and assessed.
RESULTS: Genome-wide significant locus, rs12313062 (p=1.43 × 10-8) and other 9 single nucleotide polymorphisms, were identified in chromosomes 12q23.2, associated with DRAM1 and was a novel susceptibility locus identified in TS/CTDs group. DRAM1, a lysosomal transmembrane protein regulated by p53, modulates autophagy and apoptosis, with potential implications for neuropsychiatric conditions associated with autophagy disruption.
CONCLUSIONS: This study conducted the first GWAS for TS in a Taiwanese population, identifying a significant locus on chromosome 12q23.2 associated with DRAM1. These findings provide novel insights into the neurobiology of TS and potential directions for future research in this area.

Ankylosing spondylitis (AS) is an autoimmune disease affecting mainly spine and sacroiliac joints and adjacent soft tissues. Genome-wide association studies (GWASs) are used to evaluate genetic associations and to predict genetic risk factors that determine the biological basis of disease susceptibility. We aimed to explore the race-specific SNP susceptibility of AS in Taiwanese individuals and to investigate the association between HLA-B27 and AS susceptibility SNPs in Taiwan.
Genotyping data were collected from a medical center participating in the Taiwan Precision Medicine Initiative (TPMI) in the northern district of Taiwan. We designed a case-control study to identify AS susceptibility SNPs through GWAS. We searched the genome browser to find the corresponding susceptibility genes and used the GTEx database to confirm the regulation of gene expression. A polygenic risk score approach was also applied to evaluate the genetic variants in the prediction of developing AS.
The results showed that the SNPs located on the sixth chromosome were related to higher susceptibility in the AS group. There was no overlap between our results and the susceptibility SNPs found in other races. The 12 tag SNPs located in the MHC region that were found through the linkage disequilibrium method had higher gene expression. Furthermore, Taiwanese people with HLA-B27 positivity had a higher proportion of minor alleles. This might be the reason that the AS prevalence is higher in Taiwan than in other countries. We developed AS polygenic risk score models with six different methods in which those with the top 10% polygenic risk had a fivefold increased risk of developing AS compared to the remaining group with low risk.
A total of 147 SNPs in the Taiwanese population were found to be statistically significantly associated with AS on the sixth pair of chromosomes and did not overlap with previously published sites in the GWAS Catalog. Whether those genes mapped by AS-associated SNPs are involved in AS and what the pathogenic mechanism of the mapped genes is remain to be further studied.

Vitiligo is an acquired chronic depigmentation disorder that can have a negative impact on the quality of life (QoL). This is especially true for patients with non-white skin. Only few studies have investigated the QoL of Asian patients with vitiligo. We aimed to investigate the QoL in Taiwanese vitiligo patients and identify the factors that influence their QoL. The cross-sectional study recruited 100 vitiligo patients and 100 controls with general skin diseases in the Department of Dermatology of Changhua Christian Hospital. Data were obtained using a structured questionnaire for demographic information and modified Skindex-21 instruments. The QoL was not significantly different between vitiligo patients and controls. Among the vitiligo patients, adults exhibited deteriorated emotional levels and total QoL as compared with non-adults. Married females reported greater levels of emotional disturbance than the unmarried ones. A higher educational level and shorter history of disease were associated with greater emotional impacts. The patients with a generalized type of vitiligo suffered more in total QoL. After multivariate adjustment, the young adult patients aged 20-39 were associated with poorer total QoL. It is suggested that vitiligo patients who are aged between 20 and 39, are married females, are highly educated, have a shorter disease history, and suffer from the generalized type of this disease demonstrate more deterioration in their life quality compared with other vitiligo patients. Care providers should tailor the psychological counseling and treatment accordingly.

BACKGROUND: Reflective learning plays an important role in students\' professional and personal development. However, some nursing curricula provide insufficient opportunity for students to understand how to reflect and what reflection is.
OBJECTIVE: The study aimed to explore baccalaureate nursing students\' experiences of reflective writing.
METHODS: The study used a hermeneutic phenomenological approach.
METHODS: Through purposive sampling, 15 participants were recruited for individual in-depth face-to-face interviews which were conducted after they had completed the course \'Application of Emergency Nursing\'. Interviews were semi-structured and audio-recorded. Additional data were obtained from 20 documents on consulting faculty for reflective writing. Data analysis was undertaken through a hermeneutic phenomenological framework based on van Manen\'s approach.
RESULTS: Participants reported that reflective writing had helped them to optimise their personal and professional development. Four themes emerged from the analysis: recording a personal story, presenting a process of events, confronting challenges, and strengthening personal characteristics.
CONCLUSIONS: Students were satisfied with their learning achievements and growth and felt they had become better through reflective writing. The results demonstrated that: reflective writing needs to be elaborated objectively and carefully; continuing self-dialogue can reveal the true meaning of an incident; students learned strategies to apply in future situations.

In mixed dentition analysis, estimation of the mesiodistal width of unerupted permanent canines and premolars is essential for successful diagnosis and treatment planning. The present study aimed to develop a simple linear equation to predict permanent tooth sizes from mixed dentition analysis for Taiwanese people.
The sample comprised 200 dental casts, derived from Taiwanese patients (100 males and 100 females; age, 12-35 years). Mesial distal tooth widths were measured in dental casts with a digital caliper. A student\'s t-test was conducted to detect tooth size correlations with gender-specific differences, as well as intra-arch counterparts. Standard linear regression was conducted to develop a simple equation representing predictions of canine-premolar relationships.
All teeth were not significantly different between the left and right sides, regardless of gender and upper or lower arches. In terms of types of teeth, males had larger tooth dimensions in both arches than females. New regression equations for estimating the dimensions of the unerupted canines and premolars in the Taiwanese population were developed.
Using a sample of Taiwanese people, new models derived for females and males separately were developed, which should provide highly accurate predictions for unerupted canines and premolars in the Taiwanese population.

Taiwan was the first Asian country to endorse patient autonomy, and advance care planning (ACP) has been highly promoted to improve quality of end-of-life (EOL). A mixed-methods pilot survey was conducted in northwestern Taiwan to investigate older community-dwelling residents\' (N = 52) ACP behavioral engagement, socio-demographical correlates, and their preferred intervention strategies. An interview subset (25%, N = 13) was purposely chosen for in-depth feedback and rationales behind their ACP decision-making. Rich information was obtained about perceived facilitators and inhibitors to initiate ACP and preferred intervention strategies in ACP programs. Consistent with previous literature, carefully designed ACP programs that incorporated family decision-making and met older subjects\' multiple needs would increase program acceptability and foster ACP engagement among older Taiwanese in the community setting.

Taiwanese tonal alternation is realized in a circular chain shift fashion for both smooth and checked syllables. Debate regarding the processes of less productive Taiwanese tonal alternation has centered on whether a surface tone is derived from an underlying tone, or whether a surface tone is selected without undergoing any derivation. The current study investigates this controversial issue by examining Taiwanese checked tone and smooth tone sandhi neutralization in production. In particular, we analyzed whether checked citation and sandhi tone 53 (C21→C53), checked citation and sandhi tone 21 (C53→C21), smooth citation and sandhi tone 55 (S51→S55), and smooth citation and sandhi tone 21 (S33→S21) are acoustically completely neutralized in fundamental frequency (F0) height, contour, and duration. A non-sandhi exception was also included to evaluate the effect of position-in-word on F0 height and duration given that citation tones always appear in phrase-final position. Any trace of influence from the underlying representation would indicate a computational mechanism, whereas the absence of any trace would suggest a lexical mechanism for the production of Taiwanese tonal alternation. Results did not show any influence of F0 height, F0 contour, or tone duration from the underlying representation for both checked and smooth tones, supporting a lexical mechanism in speech production for less productive tonal alternations.

An increasing number of studies have revealed that phthalate exposure alters thyroid hormone homeostasis in the general population, but there is insufficient evidence of the effect of longitudinal maternal phthalate exposure on maternal and fetal thyroid hormones during pregnancy. We longitudinally assessed the effect of prenatal phthalate exposure in pregnant women on umbilical cord and maternal thyroid hormones at three trimesters during pregnancy. We recruited 98 pregnant women and collected urine and blood samples at three trimesters in an obstetrics clinic in Southern Taiwan from 2013 to 2014. We analyzed the concentrations of 11 urinary phthalate metabolites, including monoethylhexyl phthalate, mono-(2-ethyl-5-oxo-hexyl) phthalate (MEOHP), mono-(2-ethyl-5-hydroxyhexyl) phthalate, mono-(2-ethyl-5-carboxypentyl) phthalate (MECPP), mono-n-butyl phthalate, monoisobutyl phthalate (MiBP), monoethyl phthalate (MEP), using online liquid chromatography-tandem mass spectrometry. The cord and maternal serum levels of thyroxine (T4), free T4, triiodothyronine (T3), thyroid-stimulating hormone (TSH), and thyroxine-binding globulin were measured using an electrochemiluminescence immunoassay. A mixed-model analysis was utilized to assess the effect of longitudinal phthalate exposure on thyroid hormones and adjusted for significant covariates. We found that urinary MiBP (β=-0.065, 95% confidence interval (CI): -0.124, -0.005), and MEOHP (β=-0.083, 95% CI: -0.157, -0.009) were significantly negatively associated with serum TSH. Urinary MECPP was inversely related to serum T3 (β=-0.027, 95% CI: -0.047, -0.006). Urinary MEP (β=0.014, 95% CI: -0.001, 0.028) and MiBP (β=0.033, 95% CI: 0.018, 0.049) were positively related to free T4. We found that cord serum T3 (β=0.067, 95% CI: 0.003, 0.131) and free T4 (β=0.031, 95% CI: 0.001, 0.062) levels had significant positive associations with maternal ΣDBPm levels at the second trimester. We concluded that different phthalates exposure windows during gestation may alter cord and serum thyroid hormone homoeostasis.

We have studied Wiwa/Sanja Amerindians HLA-A, -B, -C, -DRB1 and DQB1 allele frequencies and extended haplotypes in 52 unrelated individuals from \"El Encanto\" town at Guanachaca riverside. High frequency alleles were in general present in other Amerindian populations. Also, three extended haplotypes and eight ones were respectively both \"new found\" and already described in Amerindians from North, Central and South America, including Lakota-Sioux, Mayas, Teeneks, Quechua and Aymaras. Analyses of HLA-A*24:02 and -C*01:02 Wiwa high frequency alleles suggested a specific relatedness with another Amerindian and Pacific Islander ethnic groups (these two particular alleles bearing in high frequencies); they include New Zealand Maoris, Taiwanese, Japanese, Papua New Guinea, and Samoans among others. This may indicate that selective forces are maintaining these two alleles high frequency within this wide American/Pacific area.

Cardiovascular complications are the leading causes of death in patients with autosomal-dominant polycystic kidney disease (ADPKD) in the Western countries. However, theprevalence and risk of acute myocardial infarction (AMI) in patients with ADPKD remain unknown, especially in Asian population. We utilized the data from Taiwan National Health Insurance Research Database (NHIRD) to perform a population-based cohort study (1997-2008). A total of 2062 patients with ADPKD were selected from one million of general population after excluding those patients with age less than 18 years old, receiving renal replacement therapy, and concomitant diagnoses of AMI. Additionally, we set up those patients without ADPKD as comparison group by matching study cohort with age, gender, income and urbanization with 1:10 ratio (n=20620). The results showed that although the prevalence of AMI in ADPKD patients in Taiwan was lower than those in the United States (2.91% v.s. 6%, p=0.0567), the Taiwanese ADPKD group had significantly higher prevalence of AMI as compared with the non-ADPKD group (2.91% v.s. 0.97%, p<0.0001). In addition, Kaplan-Meier analysis demonstrated that cumulative incidence of AMI was significantly higher in ADPKD than in the non-ADPKD group (all p<0.001). After adjusting for age, gender and comorbidities by multivariate and sensitivity analysis, ADPKD patients had 2.43-fold greater risk for developing AMI as compared with non-ADPKD patients (95% CI 1.8 to 3.29, p<0.0001). In conclusion, Taiwanese patients with ADPKD have lower prevalence of AMI as compared to Americans, whereas ADPKD per se remains independently predictive of AMI in Asian population.