If carrier women could be identified in time and take appropriate measures, fragile X syndrome (FXS) can be prevented. Wide screening of women to be or in their early pregnancy was considered a good approach to identify carriers without misdetection. Nevertheless, we argued against the cost-effectiveness of implementing such a screening program in Taiwan, due to the lower carrier rate found in our pilot study. To reliably estimate the prevalence of mutant FMR1 gene in Taiwan, we anonymously screened 10,046 newborn boys using bloodspot polymerase chain reaction (PCR). Among them, the sample from one boy, who was most likely had FXS, failed repeatedly in PCR amplification. The estimated prevalence of premutation (55-200 CGG repeats) and intermediate alleles (45-54 CGG repeats) was 1:1,674 (n = 6) and 1:143 (n = 70), respectively. All these estimates were constantly lower than that reported in Caucasian populations, with variable statistic significance. Furthermore, when comparing analyses of the distribution of alleles at the two most often investigated microsatellite loci, DXS548 and FRAXAC1, between 100 control and 28 unrelated fragile X chromosomes, we found no apparent founder haplotype prevalent among the fragile X patients. Because a few founder haplotypes were reportedly prevalent in two thirds of fragile X alleles in Caucasians and in Chinese from Central China, we thus suggested that lack of founder fragile X chromosomes might result in a relatively low prevalence of mutant FMR1 gene in a population, as observed in Taiwan.

No abstract

Background: The necessity of early treatment for lysosomal storage diseases (LSDs) has triggered the development of newborn screening for LSDs in recent years. Here we report the first 70,000 newborns screened for Mucopolysaccharidosis (MPS) type 4A (Morquio syndrome) and other LSDs by an 8-plex assay including the original 4-plex LSD screening tandem mass spectrometry (MS/MS) assay for Pompe disease, Fabry disease, Gaucher disease, and MPS I disease. Methods: The additional reaction for MPS II, MPS 3B, MPS 4A, and MPS 6 enzymes was performed separately from the 4-plex reaction. The two reactions were quenched and extracted, then combined before carrying out a single 2-min UPLC-MS/MS analysis. Results: From Mar. 2018 to Apr. 2019, 73,743 newborns were screened with the 8-plex LSD screening assay. The 8-plex assay revealed a better analytical precision than the previous 4-plex assay possibly because the 8plex was carried out using UPLC-MS/MS. Six newborns were found to have low MPS-4A enzyme (N-acetylgalactosamine-6-sulfatase) activity and biallelic GALNS pathogenic mutations in trans; these patients are presumably affected with MPS4A, making an incidence of one in 12,291 (95% confident interval (CI): 5633-26,817). One mutation, c.857C > T (p.T286 M) of the GALNS gene, accounted 5 of the 12 mutated alleles. These newborns had immature vertebral bodies at 1 month of age, and one case was treated with elosulfase alfa 2 mg/kg/week starting from 4 months of age. Among other MPSs screened, one case of MPS I, 3 cases of MPS II, and 3 cases of MPS 3B were detected. One case of mucolipidosis type III was also diagnosed. In conjunction with another 9 patients of Pompe disease, Gaucher disease, and classical Fabry disease, making an incidence of LSDs as one in 3206 newborns (95% CI: 2137-4811). The one with infantile-onset Pompe disease and the one with Gaucher disease were treated since the age of 8 days and 41 days respectively. Conclusions: Routine newborn screening of MPS 4A and other LSDs were made possible by the 8-plex LSD screening assay. However, detailed phenotype prediction and the time to start treatment will need further elucidation.

Background Medicine practiced with narrative competence is called narrative medicine, which has been proposed and used as a model of humane and effective medical practice. Despite the in-depth discussions of narrative medicine, the study of narrative competence in literature is limited; therefore, this study aims to explore the dimensions and connotations of the clinical narrative competence of medical personnel. Methods This qualitative study used in-depth interviews to collect participants’ experience and perspectives regarding narrative competence, followed by thematic analysis of the transcripts. Through purposive sampling, this study successfully recruited 15 participants (nine males and six females in 2018–2019) who were engaged in narrative medicine or medical humanity education from different medical schools and hospitals across Taiwan. The authors performed manual thematic analysis to identify the themes and concepts of narrative competence through a six-step theme generation process. Results There were four major themes of narrative competence generalized and conceptualized: narrative horizon, narrative construction (including narrative listening, narrative understanding, narrative thinking, and narrative representation), medical relationship (including empathy, communication, affiliation, and inter-subjectivity), and narrative medical care (including responsive care, balanced act, and medical reflection). These four themes were further integrated into a conceptual framework and presented in a diagram. Conclusions Cultivating narrative competence in medical education can complement traditional biomedical orientation. Regardless of their treatment orientation, narrative medicine-informed health practitioners may take advantage of their multi-dimensional narrative competence, as presented in this article, to enhance their awareness and preparation in different areas of competence in medical services. In addition, the results of this study can be used as a framework for the development of the behavioral indicators of narrative competence, which can be taken as the basis for medical education curriculum design.

Previous researches have showed that HSP90AA is important in ovarian cancer, but the mechanism of HSP90AA is still unknown. This study aimed to investigate the role of the potential therapy target protein HSP90AA1 in ovarian cancer. The level of HSP90AA1 in ovarian cancer SKOV3 cell line was altered by RNAi and overexpression. Survival of these cell lines was investigated by tetrazolium-based assay and fluorescence-activated cell sorter (FACS). The chemosensitivity to cisplatin of the cell was also tested by FACS when HSP90AA1 was overexpressed. HSP90AA1 RNAi inhibited the proliferation of ovarian cancer SKOV3 cell line and increased the apoptosis. Furthermore, overexpression of HSP90AA1 decreased the chemosensitivity to cisplatin of SKOV3 cells and overexpression of HSP90AA1 could partially rescue the survival rate of SKOV3 cells which were treated with cisplatin. HSP90AA1 is required for the survival and proliferation of SKOV3 cells. High level of HSP90AA1 can increase chemoresistance to cisplatin of SKOV3 cells.

BackgroundTeaching reflection and administering reflective writing assignments to students are widely practiced and discussed in medical education and health professional education. However, little is known about how medical students use language to construct their narratives. Exploring students’ linguistic patterns in their reflective writings can facilitate understanding the scope and facets of their reflections and their representational or communication approaches to share their experiences. Moreover, research findings regarding gender differences in language use are inconsistent. Therefore, we attempted to examine how females and males differ in their use of words in reflective writing within our research circumstance to detect the unique and gender-specific approaches to learning and their applications.MethodsWe analyzed the linguistic profiles of psychological process categories in the reflective writings of medical students and examined the difference in word usage between male and female medical students. During the first year of a clinical rotation, 60 fifth-year medical students wrote reflective narratives regarding pediatric patients and the psychosocial challenges faced by the patients and their family members. The narratives were analyzed using the Chinese version of Linguistic Inquiry and Word Count (CLIWC), a text analysis software program. Multivariate procedures were applied for statistical analysis.ResultsCognitive words were most pervasive, averaging 22.16%, whereas perceptual words (2.86%) were least pervasive. Female students used more words related to positive emotions and sadness than did male students. The male students exceeded the female students only in the space category. The major limitation of this study is that CLIWC cannot directly acquire contextual text meanings; therefore, depending on the research topic, further qualitative study of the given texts might be necessary.ConclusionsTo enhance students’ empathy toward the psychosocial issues faced by patients and their family members, students should be encouraged to explore the domain of psychological processes by identifying and expressing their affective and perceptual experiences. Researchers in future studies should use outcome measures such as self-awareness or empathy to determine the overall effectiveness of reflective writing and how changes in linguistic patterns affect such outcomes.

BackgroundThe biopsychosocial model is a comprehensive approach emphasizing holistic medical care. However, medical curricula that incorporate narrative reflective writing and group dynamic discussion of psychosocial issues among patients and their family members in reflective dialogue groups are currently underutilized. The aim of this study was to determine psychosocial issues among patients and their family members through medical students’ reflective dialogue groups.MethodsThis study was completed as part of a pediatric clerkship. Fifty medical students were rotated to the department of Pediatrics. They completed a narrative writing assignment concerning patients’ psychosocial issues and participated in a reflective group discussion during the rotation. The recordings of the six reflective group sessions were transcribed for thematic analysis. A six-step theme generation process was conducted in the first reading stage of all transcripts by four researchers. Subsequently, initial codes were generated and potential themes sought before possible themes were reviewed and thematic maps generated. Names for each theme were defined and a scholarly report of the analysis was presented through a consensus-based approach.ResultsA total of 108 psychosocial issues were coded and categorized as the following six main themes: medical communication, the intricate medical ecological system, role and function of a family, development of medical professionalism, ethical dilemmas, and various patient perspectives from diverse cultural backgrounds. All these themes underlie the complexity of clinical encounters.ConclusionsClinical care is an extremely complex interactive ecological network involving human behavior, family, and public health care systems. The discovery of psychosocial problems by medical students as narrators in this study illustrates that medical care should focus not only on illnesses but also patients’ psychosocial narratives.

A pilot cord blood TSH screening program for congenital hypothyroidism was commenced in Hong Kong in April 1982. By April 1984, 14 41 1 neonates born in two hospitals were screened for this disorder. Five cases of primary hypothyroidism and two cases of transient hypothyroidism were detected. The detection of cases of congenital hypothyroidism with only moderately elevated cord blood TSH values means that the recall rate will remain high.