A lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development.

Lissencephaly is a neurodevelopmental disorder characterized by a loss of brain surface convolutions caused by genetic variants that disrupt neuronal migration. However, the genetic origins of the disorder remain unidentified in nearly one-fifth of people with lissencephaly. Using whole-exome sequencing, we identified a de novo BAIAP2 variant, p.Arg29Trp, in an individual with lissencephaly with a posterior more severe than anterior (P>A) gradient, implicating BAIAP2 as a potential lissencephaly gene. Spatial transcriptome analysis in the developing mouse cortex revealed that Baiap2 is expressed in the cortical plate and intermediate zone in an anterior low to posterior high gradient. We next used in utero electroporation to explore the effects of the Baiap2 variant in the developing mouse cortex. We found that Baiap2 knockdown caused abnormalities in neuronal migration, morphogenesis and differentiation. Expression of the p.Arg29Trp variant failed to rescue the migration defect, suggesting a loss-of-function effect. Mechanistically, the variant interfered with the ability of BAIAP2 to localize to the cell membrane. These results suggest that the functions of BAIAP2 in the cytoskeleton, cell morphogenesis and migration are important for cortical development and for the pathogenesis of lissencephaly in humans.

The Genetics of Primary Familial Brain Calcification: A Literature Review.

Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited disorder characterized by bilateral calcification in the basal ganglia according to neuroimaging. Other brain regions, such as the thalamus, cerebellum, and subcortical white matter, can also be affected. Among the diverse clinical phenotypes, the most common manifestations are movement disorders, cognitive deficits, and psychiatric disturbances. Although patients with PFBC always exhibit brain calcification, nearly one-third of cases remain clinically asymptomatic. Due to advances in the genetics of PFBC, the diagnostic criteria of PFBC may need to be modified. Hitherto, seven genes have been associated with PFBC, including four dominant inherited genes (SLC20A2, PDGFRB, PDGFB, and XPR1) and three recessive inherited genes (MYORG, JAM2, and CMPK2). Nevertheless, around 50% of patients with PFBC do not have pathogenic variants in these genes, and further PFBC-associated genes are waiting to be identified. The function of currently known genes suggests that PFBC could be caused by the dysfunction of the neurovascular unit, the dysregulation of phosphate homeostasis, or mitochondrial dysfunction. An improved understanding of the underlying pathogenic mechanisms for PFBC may facilitate the development of novel therapies.

Experiences of oncology healthcare personnel in international medical service quality: a phenomenological study.

BACKGROUND: With the globalization of medical services on the rise, Asia has ascended to a destination of choice for its high-quality medical services at very reasonable rates. Monitoring the quality of the international medical industry is vital to maintain service demand. The experiences of healthcare personnel (HCP) involved in international medical services (IMS) regarding the provision of services to international cancer patients have not yet been discussed. This study aimed to explore oncology HCP experiences of IMS quality in caring for international cancer patients in Taiwan. METHODS: Descriptive phenomenological method and were analyzed through Colaizzi's seven-step approach. In this study, 19 respondents were collected data by using in-depth semi-structured interviews. An average interview lasted approximately 45 min. RESULTS: Four major themes were identified from the interviews: patient selection, psycho-oncology care, predicaments, and promoting suggestions. Additionally, thirteen subthemes emerged, including necessary selection of patients, reasons for unwillingness to enroll international patients, helpless patients, emotional distress, care with warmth, insufficient manpower, an unfair reward mechanism, poor hardware equipment, the predicaments of oncology care, various publicity strategies, one-on-one service model, design of a designated area, and reasonable benefit distribution. CONCLUSIONS: This study explored oncology HCP experiences of IMS quality in caring for international cancer patients, with implications for hospitals in developing high-quality IMS. Due to the fact that IMS is a global trend, HCPs, administrators, and policy-makers are advised to improve the quality of IMS in the oncology department, which has been the least studied field in IMS quality.

Clinical Significance of Frailty on Treatment Outcome in Nongeriatric Patients With Head and Neck Cancer and Esophageal Cancer Undergoing Curative-Intent Concurrent Chemoradiotherapy.

BACKGROUND: Whether the prevalence of frailty and its clinical significance are relevant to treatment outcomes in younger (aged < 65 years) cancer patients remains uncertain. This study aimed to evaluate the impact of frailty on treatment outcomes in younger cancer patients with head and neck and esophageal malignancy. MATERIAL AND METHODS: This multicenter prospective study recruited 502 patients with locally advanced head and neck and esophageal cancer during 2016-2017 in Taiwan, aged 20-64 years who received curative-intent concurrent chemoradiotherapy (CCRT) as first-line antitumor treatment. Baseline frailty assessment using geriatric assessment (GA) was performed for each patient within 7 days before CCRT initiation. RESULTS: Frailty was observed in 169 (33.7%) of 502 middle-aged patients. Frail patients had significantly higher incidences of chemotherapy incompletion (16.6% versus 3.3%, P < .001) and radiotherapy incompletion (16.6% versus 3.6%, P < .001) than fit patients. During CCRT, frail patients had a significantly higher percentage of hospitalizations (42.0% versus 24.6%, P < .001) and a trend toward a higher percentage of emergency room visits (37.9% versus 30.0%, P = .08) than fit patients. Frail patients more likely had a significantly higher incidence of grade ≥ 3 adverse events than fit patients during CCRT. The 1-year survival rate was 68.7% and 85.2% (hazard ratio 2.56, 95% confidence interval 1.80-3.63, P < .001) for frail and fit patients, respectively. CONCLUSIONS: This study demonstrated the significance of pretreatment frailty on treatment tolerance, treatment-related toxicity, and survival outcome in younger patients with head and neck and esophageal cancer undergoing CCRT. While GA is commonly targeted toward the older population, frailty assessment by GA may also be utilized in younger patients for decision-making guidance and prognosis prediction.

Improving transitional care through online communication skills training.

BACKGROUND: As the aging population is increasing significantly, the communication skills training (CST) on transitional care (TC) is insufficient. AIMS: This study aimed to test the effectiveness of an intervention (the online TC CST [OTCCST] and TC) through the perspectives of healthcare providers (HCPs), older patients, and family members. METHODS: A total of 38 HCPs caring for older patients were randomized to the experimental (n = 18) or control groups (n = 20), and 84 pairs of patients and family members were enrolled (experimental: n = 42 vs. control: n = 42). The primary outcome was HCP communication confidence; while secondary outcomes included patient quality of life (QoL), activities of daily living (ADL), rehospitalization counts, and family caregiving burden. Data were collected from HCPs using a scale measuring confidence in communicating with patients. Patient outcomes were assessed using the McGill QoL Questionnaire-Revised and Barthel Index. Family members were assessed with the Caregiver Burden Inventory. Rehospitalization counts were tracked for 3 months post-discharge. Data were analyzed using multiple regression analysis. RESULTS: Experimental group HCPs showed a significant improvement in communication confidence over the control group (p = 0.0006). Furthermore, experimental group patients had significantly fewer rehospitalization counts within 3-month post-discharge (p < 0.05). However, no significant group differences were found in patient QoL and ADL nor in family caregiver burden. CONCLUSION: The OTCCST can effectively improve HCP communication confidence, and the combination of OTCCST and TC can reduce rehospitalization counts for older patients. The OTCCST allows HCPs to learn asynchronously at their convenience, ideal for continuing education, especially during the COVID-19 pandemic.

Effectiveness of end-stage renal disease communication skills training for healthcare personnel: a single-center, single-blind, randomized study.

BACKGROUND: Given that the consequences of treatment decisions for end-stage renal disease (ESRD) patients are long-term and significant, good communication skills are indispensable for health care personnel (HCP) working in nephrology. However, HCP have busy schedules that make participation in face-to-face courses difficult. Thus, online curricula are a rising trend in medical education. This study aims to examine the effectiveness of online ESRD communication skills training (CST) concerning the truth-telling confidence and shared decision-making (SDM) ability of HCP. METHODS: For this single-center, single-blind study, 91 participants (nephrologists and nephrology nurses) were randomly assigned to two groups, the intervention group (IG) (n = 45) or the control group (CG) (n = 46), with the IG participating in ESRD CST and the CG receiving regular in-service training. Truth-telling confidence and SDM ability were measured before (T0), 2 weeks after (T1), and 4 weeks after (T2) the intervention. Group differences over the study period were analyzed by generalized estimating equations. RESULTS: IG participants exhibited significantly higher truth-telling confidence at T1 than did CG participants (t = 2.833, P = .006, Cohen's d = 0.59), while there were no significant intergroup differences in the confidence levels of participants in the two groups at T0 and T2. Concerning SDM ability, there were no significant intergroup differences at any of the three time points. However, IG participants had high levels of satisfaction (n = 43, 95%) and were willing to recommend ESRD CST to others (n = 41, 91.1%). CONCLUSIONS: ESRD CST enhanced short-term truth-telling confidence, though it is unclear whether this was due to CST content or the online delivery. However, during pandemics, when face-to-face training is unsuitable, online CST is an indispensable tool. Future CST intervention studies should carefully design interactive modules and control for method of instruction.

Effectiveness of communication skill training on cancer truth-telling for advanced practice nurses in Taiwan: A pilot study.

OBJECTIVE: Advanced practice nurses (APNs) can best support physicians in improving the quality of truth-telling. However, the effectiveness of communication skill training (CST), based on the Japanese SHARE model exclusive to APNs, has not been tested from APNs' and recipients' viewpoints, motivating the author to conduct the present study. METHODS: A two-group before-after model design was adopted, and 61 APNs from two hospitals were randomly assigned to either an experimental group (EG; N = 28) or an control group (CG; N = 33). APNs in the EG received 6 h of CST under the guidance of qualified facilitators and simulated patients. This study used APNs' subjective assessment (N = 61) (self-confidence and perceptions on truth-telling) and recipients' opinions (N = 480) (cancer patients' and their caregivers' satisfaction with truth-telling and emotional status) to assess the effectiveness of the SHARE CST. Data were collected before CST (baseline, T0), immediately after (T1), and 2 weeks after (T2). RESULTS: APNs in the EG had more confidence (p < 0.05) and better perceptions of cancer truth-telling (p < 0.01) than APNs in the CG at both T1 and T2. No group differences were found in patients' or their caregivers' satisfaction with truth-telling, emotional distress, and anxiety (p > 0.05). In addition, patients in the EG had higher depression than patients in the CG (ß = 1.65, p = 0.01). CONCLUSIONS: SHARE CST can improve APNs' confidence and perceptions of cancer truth-telling. However, more rigorous studies are required to test the effectiveness of CST from recipients' viewpoint.

Djulis (Chenopodium formosanum) and Its Bioactive Compounds Protect Human Lung Epithelial A549 Cells from Oxidative Injury Induced by Particulate Matter via Nrf2 Signaling Pathway.

The protective effects of water extracts of djulis (Chenopodium formosanum) (WECF) and their bioactive compounds on particulate matter (PM)-induced oxidative injury in A549 cells via the nuclear factor-erythroid 2-related factor 2 (Nrf2) signaling were investigated. WECF at 50-300 µg/mL protected A549 cells from PM-induced cytotoxicity. The cytoprotection of WECF was associated with decreases in reactive oxygen species (ROS) generation, thiobarbituric acid reactive substances (TBARS) formation, and increases in superoxide dismutase (SOD) activity and glutathione (GSH) contents. WECF increased Nrf2 and heme oxygenase-1 (HO-1) expression in A549 cells exposed to PM. SP600125 (a JNK inhibitor) and U0126 (an ERK inhibitor) attenuated the WECF-induced Nrf2 and HO-1 expression. According to the HPLC-MS/MS analysis, rutin (2219.7 µg/g) and quercetin derivatives (2648.2 µg/g) were the most abundant bioactive compounds present in WECF. Rutin and quercetin ameliorated PM-induced oxidative stress in the cells. Collectively, the bioactive compounds present in WECF can protect A549 cells from PM-induced oxidative injury by upregulating Nrf2 and HO-1 via activation of the ERK and JUN signaling pathways.

Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.

BACKGROUND: Primary familial brain calcification (PFBC) is a rare inherited disease characterized by multiple calcified foci in the brain parenchyma. MYORG is the first gene found to be associated with autosomal recessive PFBC. The precise pathogenic mechanism of neurodegeneration in PFBC remains unclear. The clinical phenotypes of PFBC are variable, and there is no clear correlation between clinical manifestations and radiological and pathological features of calcification. CASE PRESENTATION: Two sisters in a Taiwanese family presented with young-onset Parkinsonism and multifocal dystonia. Their brain CTs showed multiple intracerebral calcifications. The genetic study detected two heterozygous novel variants, c.104 T > A (p.Met35Lys) and c.850 T > C (p.Cys284Arg) in the MYORG gene. In both patients, MR susceptibility weighted images revealed calcification of the deep medullary veins. Tc99m ECD SPECT demonstrated a significant decrease of tracer uptake in the brain cortex and subcortical gray matter. Tc99m TRODAT-1 SPECT revealed decreased tracer uptake in the bilateral striatum. CONCLUSION: Two novel MYORG variants were identified in Taiwanese family members presenting with PFBC. Abnormalities in the brain perfusion and dopamine transporter SPECTs suggest that cerebral ischemia due to extensive calcified vasculopathy, disruption of the basal ganglia-thalamo-cortical circuit, and nigrostriatal dopaminergic dysfunction are plausible pathogenic mechanisms of neurodegeneration in PFBC patients. Further investigation into the correlations between the pathogenicity-implicated imaging findings and the clinical phenotype are recommended.

The Inhibitory Effects of Djulis (Chenopodium formosanum) and Its Bioactive Compounds on Adipogenesis in 3T3-L1 Adipocytes.

The aim of this study was to provide new insights into the role of the ethanolic extracts of Djulis (Chenopodium formosanum, EECF) and its bioactive compounds in preventing adipogenesis in 3T3-L1 adipocytes. The results demonstrated EECF significantly inhibited oil red O-stained material (OROSM), triglyceride levels and glycerol-3-phosphate dehydrogenase (GPDH) activity in 3T3-L1 adipocytes. The expression of the critical molecules involved in lipid synthesis such as PPARγ, C/EBPα and SREBP-1c was attenuated in EECF-treated cells. According to HPLC-DAD and HPLC-MS/MS analysis, rutin, kaempferol, betanin and another nine compounds were present in EECF. The suppression of lipid accumulation by rutin, kaempferol and betanin occurred by decreasing the gene expression of PPARγ, C/EBPα and SREBP-1c. Taken together, these findings suggest the presence of bioactive compounds in EECF may partly account for the anti-adipogenesis of EECF and EECF is therefore a potentially lipid lowering functional food.

Inhibition of Epstein-Barr virus lytic cycle by an ethyl acetate subfraction separated from Polygonum cuspidatum root and its major component, emodin.

Polygonum cuspidatum is widely used as a medicinal herb in Asia. In this study, we examined the ethyl acetate subfraction F3 obtained from P. cuspidatum root and its major component, emodin, for their capacity to inhibit the Epstein-Barr virus (EBV) lytic cycle. The cell viability was determined by the MTT [3-(4,5-dimethyldiazol-2-yl)-2,5-diphenyltetrazolium bromide] method. The expression of EBV lytic proteins was analyzed by immunoblot, indirect immunofluorescence and flow cytometric assays. Real-time quantitative PCR was used to assess the EBV DNA replication and the transcription of lytic genes, including BRLF1 and BZLF1. Results showed that the F3 and its major component emodin inhibit the transcription of EBV immediate early genes, the expression of EBV lytic proteins, including Rta, Zta, and EA-D and reduces EBV DNA replication, showing that F3 and emodin are potentially useful as an anti-EBV drug.

Experiences and preferences of truth-telling in families of children with cancer: A phenomenological study.

Objective: The delivery of bad news is an unpleasant but necessary medical procedure. However, few studies have addressed the experiences and preferences of the families of school-aged children with cancer when they are informed of the children's condition. This study aimed to explore families of school-age children with cancer for their preferences and experiences of truth-telling. Methods: This descriptive phenomenological qualitative research was conducted using focus group interviews and semistructured interview guidelines were adopted for in-depth interviews. Fifteen families participated in the study. The data were analyzed using Colaizzi's analysis. Data were collected from August 2019 to May 2020. Results: The study identified two major themes: "caught in a dilemma" and "kind and comprehensive team support." The first major theme focused on families' experiences with cancer truth-telling. Three sub-themes emerged: (1) cultural aspects of cancer disclosure, (2) decision-making regarding informing pediatric patients about their illness, and (3) content of disclosure after weighing the pros and cons. The second major theme, which revealed families' preferences for delivering bad news, was classified into three sub-themes: (1) have integrity, (2) be realistic, and (3) be supportive. Conclusions: This study underscores the dilemma encountered by the families of children with cancer after disclosure and their inclination toward receiving comprehensive information and continuous support. Health care personnel must improve their truth-telling ability in order to better address the needs of such families and to provide continuous support throughout the truth-telling process.

Validating Prediction Tools for Autoimmune Encephalitis in Adult Taiwanese Patients: A Retrospective Study.

Autoimmune encephalitis (AE) is a neurological emergency. We aimed to analyze the application and effectiveness of the currently available prediction tools for AE patients in Taiwan. We retrospectively collected 27 AE patients between January 2008 and December 2019. Antibody Prevalence in Epilepsy (APE) score, Response to Immunotherapy in Epilepsy (RITE) score, and anti-NMDAR Encephalitis One Year Functional Status (NEOS) score were applied to validate their usability. Based on the defined cutoff values, the sensitivity and specificity of each score were calculated. A receiver operating characteristic (ROC) curve and the area under the curve (AUC) were generated for each scoring system. The AUC value of APE was 0.571. The AUC value of RITE was 0.550. The AUC values for the NEOS score at discharge and long-term follow-up were 0.645 and 0.796, respectively. The performance of APE and RITE scores was suboptimal in the Taiwanese cohort, probably due to the limitations of the small sample size and single ethnicity. On the other hand, the NEOS score performed better on long-term follow-up than at discharge.

A pharmacogenetic study of perampanel: association between rare variants of glutamate receptor genes and outcomes.

Introduction: The selection of antiseizure medication usually requires a trial-and-error process. Our goal is to investigate whether genetic markers can predict the outcome of perampanel (PER) use in patients with epilepsy. Method: The studied participants were selected from our previous epilepsy genetics studies where whole exome sequencing was available. We reviewed the medical records of epilepsy patients older than 20 years old treated with PER. The outcome of PER treatment included the response to PER, the occurrence of any adverse drug reaction (ADR), the presence of behavior ADR, and the ability to adhere to PER for more than 1 year. We investigated the association between the rare variants of the glutamate receptor genes and the outcomes of PER use. Result: A total of 83 patients were collected. The gene group burden analysis showed that enriched genetic variants of the glutamate receptor gene group were statistically significantly associated with the occurrence of ADR, while the glutamate ionotropic receptor delta type subunit had a nominal association with the occurrence of ADR. The gene collapse analysis found that GRID1 had a nominal association with the occurrence of ADR and GRIN3A had a nominal association with the occurrence of behavior ADR. However, these nominal associations did not remain statistically significant once adjusted for multiple testing. Discussion: We found that enriched rare genetic variants of the glutamate receptor genes were associated with the occurrence of ADR in patients taking PER. In the future, combining the results of various pharmacogenetic studies may lead to the development of prediction tools for the outcome of antiseizure medications.

Effect of Acupressure on Fatigue in Hemodialysis Patients: A Single-Blinded Randomized Controlled Trial.

Objectives: The objective of this study was to investigate the effect of acupressure on fatigue severity, sleep quality, and psychological status in patients with end-stage renal disease (ESRD) receiving hemodialysis (HD) treatment. Design: A single-blinded parallel-group randomized controlled trial. Settings/Location: A medical center in central Java, Indonesia. Subjects: One hundred and six patients who had been receiving HD for at least 3 months were enrolled in this study and randomly assigned to two groups. Interventions: The experimental group received acupressure at K1, ST36, and SP6 acupoints. In contrast, the control group received sham acupressure at 1 cun from these three acupoints. Subjects received acupressure thrice per week for 4 weeks, and pressure on each acupoint was applied for 3 min bilaterally. Outcome measures: The primary outcome was fatigue severity, while sleep quality and psychological status (depression/anxiety) were evaluated as secondary outcomes. Outcomes were assessed using the Brief Fatigue Inventory, Pittsburgh Sleep Quality Index, and Hospital Anxiety and Depression Scale. Results: Acupressure induced a significant medium to large effect on improvement in fatigue (b = -1.71, confidence interval [95% CI]: -1.90 to -1.51, ΔR2 = 0.744), sleep quality (b = -5.81, 95% CI: -6.80 to -4.81, ΔR2 = 0.525), and anxiety (Estimate = -3.213, 95% CI: -4.238 to -2.188, pseudo R2 = 0.292)/depression (Estimate = -3.378, 95% CI: -4.432 to -2.325, pseudo R2 = 0.268) in experimental group patients compared to controls. No adverse events of acupressure were reported during the study process. Conclusions: Acupressure significantly and independently improved fatigue, depression/anxiety, and sleep quality in ESRD patients receiving HD. Clinical Trial Registration: NCT05571007.

The early predictive value of frailty for health-related quality of life among elderly patients with cancer receiving curative chemotherapy.

Changes in health-related quality of life (HRQOL) among elderly patients with cancer before and after receiving curative treatment, such as chemotherapy, have always been an important consideration in physician-patient treatment decision-making. Although frailty assessment can help predict the effects of chemotherapy, there is a lack of relevant literature on its effectiveness in predicting post-chemotherapy HRQOL. Therefore, this study investigated the early predictive value of pre-chemotherapy frailty assessment for post-chemotherapy HRQOL among elderly patients with cancer receiving curative chemotherapy. From September 2016 to November 2018, this study enrolled elderly patients with cancer aged ≥ 65 years (N = 178), who were expected to receive chemotherapy at three hospitals in Taiwan. The mean age of patients was 71.70 years (SD = 5.46 years) and half of them were female (n = 96, 53.9%). A comprehensive geriatric assessment was performed to measure frailty in 178 participants one week before receiving chemotherapy (T0). Further, the HRQOL of the elderly patients with cancer was assessed again, four weeks after chemotherapy (T1). After controlling for demographic variables, this study evaluated the predictive value of frailty for HRQOL using a hierarchical regression analysis. A total of 103 (57.9%) participants met the frailty criteria. The results showed that 31.1%-56.7% of the variance in the seven domains of HRQOL could be explained by demographic variables and the presence or absence of frailty. This suggests that the presence or absence of frailty is an important predictor of the illness burden domain (ß = 9.5; p < .05) of HRQOL. Frailty affects the illness burden domain of HRQOL in elderly patients with cancer. Finally, the administration of frailty assessments before treatment is recommended as a reference for patient treatment decision-making.

Optimal Frailty Dimensions for Assessing Frailty and Predicting Chemotherapy Adverse Events in Older Taiwanese Cancer Patients.

Background: This study aimed to investigate the effects of different frailty dimensions on frailty prevalence in older Taiwanese cancer patients receiving chemotherapy, and to analyze the dimensions that should be included in frailty assessment for effectively predicting serious adverse events, unexpected hospitalizations, and emergency department visits. Materials and Methods: This study prospectively enrolled 234 cancer patients with solid cancer or lymphoma and aged 65 years or older who later received chemotherapy at a medical center in Taiwan from September 2016 to November 2018. First, all patients were subjected to a frailty assessment on eight frailty dimensions within 1 week before their first chemotherapy treatment. The effects of different dimensions on frailty were analyzed using a Poisson regression model. Second, after sequentially excluding one, two, and three dimensions with the lowest effects, frailty was sequentially assessed in the remaining seven, six, and five dimensions for comparison of chemotherapy-related adverse events. Results: Nutritional status, comorbidity, history of falls, cognitive status, and polypharmacy were the top five important dimensions of frailty in older Taiwanese cancer patients. Regardless of the number (five to eight) of dimensions used for frailty assessment, frail patients had higher rates of serious adverse events, unexpected hospitalizations, and emergency room visits than non-frail patients during chemotherapy. Conclusions: Frailty assessment in older Taiwanese cancer patients should be based on at least five dimensions to accurately identify those at high risk of serious adverse events during chemotherapy. It is expected that the present findings may be used to design a frailty scale for older Taiwanese in the future.

ADCY5-related dyskinesia: a case report.

Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.

Performance of two frailty screening tools among patients with cancer in Taiwan.

BACKGROUND: Comprehensive Geriatric Assessment (CGA) is the gold standard for detecting frailty in elderly patients with cancer. Since CGA is time- and resource-consuming, many alternative frailty screening tools have been developed; however, it remains unknown whether these tools are suitable for older and adult patients with cancer. Therefore, we used the data collected for a large longitudinal study to compare the diagnostic performances of two frailty screening tools (Geriatric 8 [G8] and Flemish version of the Triage Risk Screening Tool [fTRST]) to identify frailty risk profile among patients with cancer. METHODS: Patients aged ≥20 years with newly diagnosed cancer were enrolled. Frailty screening with G8, fTRST, and CGA were performed before anti-cancer treatment. Diagnostic characteristics obtained using G8 and fTRST were analyzed by C-index, and the validity of G8 and fTRST was also determined. RESULTS: 40.9% of the 755 patients with cancer displayed frailty on CGA. Both G8 and fTRST showed high sensitivity (80.6-88.4%) and negative predictive value (81.0-81.2%). The C-index of G8 was higher than that of fTRST (0.77 vs 0.71, p = .01). Moreover, the best G8 and fTRST cut-off points were ≤13 and ≥ 2, respectively. The validities of G8 and fTRST were also confirmed; however, frailty age differences were not observed in our study. CONCLUSION: Frailty is a common problem for patients with cancer, and routine frailty screening is essential for both older and adult patients. G8 and fTRST are simple and useful frailty screening tools, while G8 is more suitable than fTRST for Taiwanese patients with cancer.

Gender Differences in Cancer Patients' Preferences for Truth-Telling in Taiwan.

BACKGROUND: There is a lack of studies investigating gender differences in cancer truth-telling, especially from the Asia Pacific countries. OBJECTIVE: The aim of this study was to compare preferences for cancer truth-telling between male and female cancer patients in Taiwan. METHODS: We used a quantitative cross-sectional design. Cancer patients (aged ≥18 years) were enrolled from 6 hospitals across Taiwan. A Taiwanese version of the Japanese truth-telling questionnaire was used to collect data. Multiple regression and independent t test were used for analysis. RESULTS: A total of 590 patients (49.6% male, 50.4% female) participated in this study. A multiple regression showed no gender differences in total scale and subscales (setting, method of disclosure, additional information, and emotional support). However, in item analysis, we found that female patients preferred detailed medical information (t = -1.973, P = .049). Both male and female patients preferred to know their medical condition (t = -1.259, P = .209), direct and frank truth-telling (t = -0.262, P = .794), and assistance in treatment decision-making (t = -0.467, P = .641). There was no gender difference in willingness to know the life expectancy (t = -0.769, P = .442) and families' presence during truth-telling (t = -0.416, P = .678). CONCLUSION: Few gender differences exist in the preferences of truth-telling for cancer patients. IMPLICATIONS FOR PRACTICE: Our findings can increase the sensitivity of truth-telling among nurse and other healthcare personnel when taking care of cancer patients of different genders and thereby likely improve the quality of cancer care.