Shao-Yin Chu

Prevalence of the FMR1 mutation in Taiwan assessed by large‐scale screening of newborn boys and analysis of DXS548‐FRAXAC1 haplotype

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.

Living-related liver transplantation for methylmalonic acidemia: report of one case.

Methylmalonic acidemia (MMA) is an autosomal recessive disease of branched chain amino acid metabolism. The disease can be classified as vitamin B12-responsive or nonresponsive type. For the nonresponsive type, there is no curative treatment, and its prognosis is usually poor. We report one case that had vitamin B12-nonresponsive type MMA diagnosed at 3 days of age. The patient received liver transplantation at the age of 11 months. Continuous venovenous hemodialysis was performed immediately pre- and post-transplantation. The attack frequency of metabolic acidosis episodes decreased and the general condition of this patient improved after liver transplantation. So, although not curative, liver transplantation is an effective management for MMA.

Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case

Maple syrup urine disease (MSUD) is a rare inborn error of the branched chain amino acid metabolism, which can be classified as classical, intermediate, intermittent, and thiamine responsive types. We report a 16-day-old boy who suffered from difficult feeding, persistent metabolic acidosis, and tricycling movement of the lower legs. Status epilepticus was the initial impression, but classical type MSUD was later diagnosed. Under the diagnosis, dietary therapy effectively prevented further neurological deterioration. However, amino acid deficiency manifested as acrodermatitis enteropathica-like skin rash occurred once. Early parenteral glucose supplementation and periodic plasma amino acid monitoring are very important in the management of metabolic diseases, including MSUD.

A word-count approach to analyze linguistic patterns in the reflective writings of medical students

Background Teaching 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. Methods We 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. Results Cognitive 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. Conclusions To 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.Background Teaching 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. Methods We 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. Results Cognitive 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. Conclusions To 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.

Exploratory study of the characteristics of feedback in the reflective dialogue group given to medical students in a clinical clerkship

Abstract Purpose: Structured narrative reflective writing combined with guided feedback is an efficient teaching method for enhancing medical students’ reflective capacity. However, what kinds of feedback offered and reflection presented in a reflective group remain unclear. The aim of this study was to investigate the characteristics of feedback in a reflective dialogue group. Methods: Fifth-year medical students on a monthly interval rotation at the pediatric department of a medical center in eastern Taiwan during the 2012 academic year completed their reflective writing regarding patient and family psychosocial issues, and were subsequently debriefed in a 2-h group discussion session to receive feedback from a clinical tutor and peers. Content analysis was conducted to explore the characteristics of feedback and reflection presented in the reflective dialogue. The evaluative questionnaire regarding the benefits of reflection with others was administrated following the group session. Results: Forty students participated in five reflective groups and 108 psychosocial issues were discussed and identified. The tutor played an initiating role in the group discussion by providing six equal feedback types involving exploring new knowledge, initiating advanced discussion, highlighting the issues, and encouraging the students. The students provided eight types of feedback that involved a substantial deep discussion on psychosocial issues and action plans based on the complex interactive ecological network of clinical encounters. Each student attained 1.25 times the depth or breadth of reflection after receiving feedback and experienced the benefits of reflection with others. Conclusion: Through structured narrative reflective writing combined with pluralistic group discussion with a tutor and peers, the medical students had time to think deeply and broadly about psychosocial issues among patients and their family members. Facilitative feedback providing new knowledge, deeper discussion, and exploring new ways of action planning for psychosocial issues was recommended to promote students’ reflective capacity.

Psychosocial issues discovered through reflective group dialogue between medical students

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.

Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: report of one case.

We report a male patient with a 46, XY, der (11) t (1; 11) (q31; q25) karyotype due to de novo unbalanced translocation. The boy had facial dysmorphism including prominent wide forehead, short bilateral palpebral fissures, broad nasal bridge, low set and malformed ears, digitalization of thumbs, and small testes. Besides, he also suffered from congenital hydrocephalus and hypogammaglobulinemia, which have not been described in trisomy 1q syndrome. The additional chromatin material on the long arm of chromosome 11 segment was derived from chromosome 1, as proved by high-resolution banding and multiple-color FISH study. This case report allows a further delineation of the trisomy 1q syndrome.

Correction to: Psychosocial issues discovered through reflective group dialogue between medical students

Following publication of the original article [1], the authors reported that they had had mistakenly put the wrong IRB number in the last paragraph of the Methods section (as IRB NO.: IRB101–80 instead of IRB102–20 as given in the Ethics approval and consent to participate in Declarations). The corrected last paragraph on the Method section should read as follows:

The Etiology of Short Stature in Children in Eastern Taiwan: A Retrospective Study

Abstract Objective To study the etiology of short stature in children in eastern Taiwan. Materials and Methods This retrospective study included patients referred to Hualien Buddhist Tzu Chi General Hospital for evaluation of short stature from 2002 to 2008. Data were collected from medical records, and included body height and weight by percentile, maternal history, birth history, past medical history, relevant hematological and biochemical investigations, urinalysis, levels of growth and thyroid hormones, bone age, and genetic study. Results A total of 139 children were enrolled. Sixty (43.2%) were classified as having idiopathic short stature, 48 (34.5%) were attributed to underlying disease such as gastrointestinal disorder or chronic illness, 14 (10.1%) had been small for gestational age at birth and their growth had not caught up with that of their peers, 11 (7.9%) were diagnosed with familial short stature, and 6 (4.3%) were diagnosed with growth hormone deficiency. Conclusion Idiopathic short stature was the most common etiology of short stature in children in eastern Taiwan. The incidence of short stature attributed to underlying disease seems to be higher than in other areas of Taiwan. The percentage of small-for-gestational-age children without catch-up growth was also higher in eastern Taiwan than in other areas.

Molecular Screening of Fragile X Syndrome in Children with Mental Retardation in Hualien

Abstract Objective Fragile X syndrome is the most common inherited form of X-linked mental retardation (XLMR). The aim of this study was to screen for and identify fragile X syndrome-affected individuals using DNA-based molecular approaches at a special education school for the mentally retarded in Hualien, Taiwan. Materials and Methods Genomic DNA extracted from 217 individuals with mental retardation, including 148 males and 69 females, was analyzed using polymerase chain reaction, DNA gel electrophoresis and Southern blot analysis. Individuals with the full mutation or premutation were determined according to the CGG repeat size in the 5′-untranslated region in the FMR1 gene on chromosome Xq27.3. Results A total of 217 individuals with mental retardation were screened, and three (1.38%) were identified as having fragile X full mutation. Two of the 148 males (1.35%) and one of the 69 females (1.44%) had this mutation. The incidence is very close to that in previous reports in Western Taiwan. Female carriers of fragile X syndrome were not found in this study. Conclusion We established a molecular screening approach and report the incidence of fragile X syndrome in a mentally retarded population in Eastern Taiwan. The molecular study and genetic counseling for other family members will continue in the future.