Older Taiwanese Volunteers as Standardized Patients: Service Motivation, Identity Formation, and Internal Transformation.

INTRODUCTION: Most standardized patients (SPs) in Taiwan are middle-aged or older volunteers with a high retention rate and selflessly devote themselves to the service. This study explored the psychological process behind the continued altruistic behaviors of SPs to understand the formation of service motivation, professional identity, and internal transformation. METHODS: Sixteen volunteers, aged 50 to 70 years, who served as SPs for 3 to 11 years in a religious hospital were enrolled in this study. Individual semistructured interviews were conducted. Each person was interviewed for approximately 120 minutes. We used a thematic analysis to analyze the interview transcripts. RESULTS: We identified 3 major themes and 8 subthemes. The first theme, SPs' service motivation, included the following 3 subthemes: past medical experiences, acquisition of medical knowledge, and emotional connections. The second theme, SPs' identity formation, included the following 3 subthemes: role recognition, work ethic, and a sense of religious mission. The third theme, SPs' physical and psychological support, included 2 subthemes: internal transformation and personal well-being. CONCLUSIONS: The interview results showed doctor-patient or life experiences served as the impetus prompting SPs to engage in such altruistic behavior. In addition, identity formation endowed older SPs with a life purpose and a sense of fulfillment and self-actualization through fostering and training medical students. In addition, a clear recognition of the role of an SP and self-worth helped volunteers mitigate any physical and mental problems caused by negative life experiences. Standardized patients continued to complete their tasks with a positive attitude.

Changing clinical manifestations of Gaucher disease in Taiwan.

BACKGROUND: Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be classified into 3 subtypes based on the presence and extent of neurological manifestations. Enzyme replacement therapy (ERT) has been available for all patients with GD in Taiwan since 1998. Newborn screening (NBS) for GD has been available since 2015. This study attempted to unveil the clinical features of patients diagnosed with GD during different eras in Taiwan. MATERIALS AND METHODS: Data from the health records of two tertiary hospitals responsible for two-thirds of the patients with GD in Taiwan were used. The study population included all patients identified as having GD between 1998, and April 2022, in these two hospitals for review. A total of 42 individuals were included, six of whom were diagnosed by NBS. RESULTS: Our cohort presented a higher proportion of GD3 individuals, both by clinical suspicion and by NBS diagnosis, than that reported worldwide. The major subtypes that were recognized following NBS diagnosis were GD2 and GD3. The majority of GD patients carry at least one p.Leu483Pro variant. The 5-year survival rates were 0% for GD2 patients and 100% for patients with other subtypes. Patients diagnosed during the post-NBS era were free of symptoms on initial presentation, except for those with the GD2 subtype. For those diagnosed earlier, ERT was shown to be effective in terms of improved hemograms and prevented bone crises. However, the neurological symptoms in GD3 patients progressed despite ERT intervention. CONCLUSION: ERT is essential in reversing the hematological presentations and preventing the skeletal complications of GD. Timely diagnosis of GD with NBS allows for early intervention with ERT to prevent disease progression and complications. However, the need for effective intervention for neurological dysfunction remains unmet.

The effects of rehabilitation on functional independence of Eastern Taiwanese children with rare or genetic diseases.

Objectives: This study investigated the effects of outpatient rehabilitation therapy (RT) on the functional performance of children from Eastern Taiwan with rare or genetic diseases. Materials and Methods: This retrospective observational cohort study included 73 children from Eastern Taiwan who were affected with rare or genetic diseases, with an average age of 8.57 ± 5.33 years (47 boys and 26 girls). Each child received the goal-directed therapy known as outpatient RT, which was delivered by a multidisciplinary team of specialists. To assess the effectiveness of RT, the WeeFIM-C questionnaire data were collected and analyzed. Results: After receiving outpatient RT, most of the children only required low-to-moderate assistance with self-care tasks (4.36 ± 2.38), and they could perform mobility-related activities under supervision or independently (5.70 ± 2.29). Moreover, most only required minimal assistance with tasks related to cognitive functioning and tended to complete such tasks under supervision (4.97 ± 2.05). The functional performance was significantly different among three studied groups, in terms of self-care (F[2, 68] = 5.42, P < 0.007), mobility (F[2, 68] = 8.17, P < 0.001), cognitive functioning (F[2, 68] = 3.31, P < 0.042), and overall (F[2, 68] = 6.44, P < 0.003) functional performance. Conclusion: The results of this study demonstrated that the functional status was different among three studied groups in terms of self-care, mobility, and cognitive functioning after receiving outpatient RT.

Is pinworm infection still a public health concern among children in resource-rich regions? Trends in pinworm infection prevalence and associated factors among children in Hualien County, Taiwan: a retrospective cross-sectional study.

BACKGROUND: Enterobius vermicularis (pinworm) is a common intestinal parasitic infection in children. A gradual decrease in the prevalence of pinworm infection has been noted in resource-rich settings, such as Taiwan. However, the influence of sociodemographic factors on the temporal trend in pinworm infection rates in children under the current pinworm infection prevention policy in Taiwan is not well characterized. This study aimed to evaluate the trend of pinworm infection prevalence and the associated factors among children in Hualien County, Taiwan. METHODOLOGY: In this retrospective cross-sectional study, we included a total of 56,197 students (aged 6-10 years) in grades 1 and 4 in Hualien in 2009-2018. Children were screened for pinworm infection using adhesive cellophane perianal swabs in the routine student health examination. Logistic regression was conducted to evaluate the factors associated with pinworm infection. Associations between dependent and independent variables were measured by odds ratios. The Cochran-Armitage test was used to assess whether there were significant trends in different stratifications. Variables with P-values < 0.05 were considered statistically significant. RESULTS: A total of 56,197 school-age children from grades 1 and 4 during 2009-2018 were included. Young age and male sex were risk factors for pinworm infection (P < 0.001). A negative correlation between body mass index and enterobiasis was observed, and decreased pinworm infection was noted during the study reference period. Children living in suburban and rural areas had higher odds of having a pinworm infection than those living in urban areas (P < 0.001). A significant decrease in the overall prevalence rate of pinworm infection was observed among children in 2009-2018 (P < 0.001). However, there was no obvious change in the pinworm infection rate in rural areas during this period (P = 0.953), and it was higher than that in urban and suburban areas. CONCLUSIONS: The overall prevalence of pinworm infection gradually decreased from 2009 to 2018 among school-age children in Hualien. However, there was no declining trend in pinworm infection in rural areas. Young age, male sex, and rural residence were significantly associated with pinworm infection. Pinworm infection remains a major public health concern among children in rural areas of Hualien.

A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions.

Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs) are structural alterations involving three or more chromosomal breakpoints between at least two chromosomes. Here, we present a 3-year-old boy exhibiting multiple congenital malformations and developmental delay. The cytogenetic analysis found a highly complex CCR inherited from the mother involving four chromosomes and five breakpoints due to forming four derivative chromosomes (2, 3, 6 and 11). FISH analysis identified an ultrarare derivative chromosome 11 containing three parts that connected the 11q telomere to partial 6q and 3q fragments. We postulate that this derivative chromosome 11 is associated with chromoanagenesis-like phenomena by which DNA repair can result in a cooccurrence of inter-chromosomal translocations. Additionally, chromosome microarray studies revealed that the child has one subtle maternal-inherited deletion at 6p12.1 and two de novo deletions at 6q14.1 and 6q16.1~6q16.3. Here, we present a familial CCR case with rare rearranged chromosomal structures and the use of multiple molecular techniques to delineate these genomic alterations. We suggest that chromoanagenesis may be a possible mechanism involved in the repair and reconstitution of these rearrangements with evidence for increasing genomic imbalances such as additional deletions in this case.

Gender Differences in Caring for Children with Genetic or Rare Diseases: A Mixed-Methods Study.

As a factor in parenting stress, gender differences in caring for children with genetic or rare diseases warrant research attention; therefore, this study explored gender differences in parenting stress, health outcomes, and illness perceptions among caregivers of pediatric genetic or rare disease populations to improve the understanding of such gender differences. Applying a concurrent triangulation mixed-methods design, we conducted a questionnaire survey to assess study measures for 100 family caregivers (42 men and 58 women), which included a free-text response item to probe caregivers' subjective perceptions of the children's illness. The gender differences hypothesis was tested with statistics and the qualitative data about illness perception was analyzed by directed content analysis. Most female caregivers served as the primary caregivers and provided more caregiving, while they experienced significantly increased levels of parenting stress and depressive symptoms compared with male caregivers. Female caregivers perceived the conditions of their children's diseases to be highly symptomatic, with negative consequences and requiring disease control. By contrast, male caregivers had stronger perceptions regarding the negative effects of the disease on the children's quality of life. The gender discrepancy in viewpoints of illness perception sequence may contribute to female caregivers' higher levels of stress and depressive symptoms than males.

The Impact of a Gross Anatomy Curriculum With Donor Family Interaction: Thematic Analysis of Student Letters to Silent Mentors.

PURPOSE: Tzu Chi University's anatomy curriculum incorporates interaction with donors' families and regards body donors as silent teachers and altruistic role models. In this silent mentor program (SMP), students learn about their donor's life before dissection to better appreciate the selfless donation. This study explores the influence of the program on students' humanistic literacy based on student letters to silent mentors, which students wrote near the end of the program and laid by the silent mentor during the coffining ceremony. METHOD: The study included 125 letters from third-year medical students who took the gross anatomy curriculum in academic years 2015, 2016, and 2017. With student consent, the program collated and published the letters in the open-access SMP yearbook. Using thematic analysis, the authors manually analyzed the letters in their original Mandarin, with the names of students made anonymous to ensure the authors were blind to students' identity throughout the study. RESULTS: The analysis identified 3 themes and 11 subthemes. Theme 1, my silent mentor, included 3 subthemes: life characteristics, altruistic attitude, and expectation of offering body. Theme 2, connection to silent mentor and family, included 4 subthemes: intersubjective bonding, emotive first encounter, spiritual communication, and encouragement from silent mentor. Theme 3, reflection and transformation, included 4 subthemes: reflection on life and death, professional self-expectation, inner transformation, and feedback action. CONCLUSIONS: The findings suggest that interactions with donors' families increased students' appreciation of the donation and enhanced students' humanistic literacy. Further, the letters seem to indicate that the SMP inspired students to develop a grateful, respectful, and empathic attitude toward life and their career. Thus, by implementing similar programs, gross anatomy curricula could go beyond the acquisition of structural knowledge to the cultivation of medical students' humanistic literacy.

[The Effectiveness of a Shared Reading Program Among Parents of Newborns].

BACKGROUND: Early parent-child shared reading has been demonstrated to promote the development of literacy, reading skills and learning achievement in young children. Parent-child shared reading intervention programs may strengthen the willingness and reading competence of parents. PURPOSE: To explore the attitudes and skills related to parent-child shared reading before and after an intervention program conducted in a nursery room and outpatient pediatric clinic. METHODS: A single-group pretest-posttest quasi-experimental design was conducted. Seventy-five parents of newborns in the baby rooms from two hospitals in Hualien County were conveniently sampled. Parents who had just given birth received health education before discharge from the hospital from nurses focusing on the knowledge and skills of shared reading. Three age-matched picture books with reading fact sheets and consultation support were offered free to parents of children in three, respective, age groups (newborn, 4-months old and 6-months old) during parent-child visits to the pediatric clinic for regular health examinations and vaccinations. A self-designed questionnaire was administered to analyze the parents' demographic variables, reading environment, parents' attitudes toward parent-child shared reading, and familiarity with regard to parent-child shared reading skills. RESULTS: Parent-child reading attitudes were positively correlated with skill familiarity (r = .39). The presence or absence of children's books at home, the parent-child relationship, and parental reading habits explained 32.0% of the variance in parent-child shared-reading attitudes (R2 = .32). The presence or absence of children's books at home and the presence or absence of a library card for the child explained 44.0% of the variation in familiarity with co-reading skills (R2 = .44). Parent-child shared reading attitude scores (t = -5.14, p < .001) and skill familiarity of parents (t = -7.52, p < .001) both increased significantly after the intervention program. CONCLUSIONS / IMPLICATIONS FOR PRACTICE: Parent-child shared reading educational intervention programs may be used to improve parental attitudes and skills related to parent-child shared reading.

Comparison of Growth Velocity Among School Age Children With Different Body Mass Index From Childhood Into Early Adolescence in Hualien County, Taiwan: A Retrospective Cohort Study.

Objective: This study aimed to investigate the contribution of high body mass index (BMI) to growth velocity among school-aged children who remained in the same BMI categories for a 6-year period. Methods: This retrospective cohort study included children who enrolled in the school year 2009 and remained in the same BMI categories during their 1st, 4th, and 7th grades (6-7, 9-10, 12-13 years of age). Annual linear growth velocity and weight gain were calculated and compared between sexes, BMI groups, and different times. Risk analysis and repeated measures analysis of variance were performed to identify the impact of BMI on growth velocity. Results: Of the 1,637 subjects, 53.0% were male, and 2.5% and 10.9% belonged to BMI groups of overweight and obese, respectively. In students between 6 and 13 years of age, obesity was associated with higher annual weight gain and height gain. Risk analysis showed that obese subjects had higher linear growth velocity than normal BMI groups of both sexes between 6 and 9 years of age. Unexpectedly, overweight and obese girls between 9 and 13 years of age had less linear growth velocity than underweight girls at the same interval. Repeated measures analysis of variance in both sexes showed a significant statistical association between BMI and different times of growth. However, the effect was less in girls between 9 and 13 years of age. Conclusion: Puberty may dominate over BMI as the main contributor to high growth velocity in girls with underweight BMI emerging into pubertal age.

Survey of the triple-mentoring program for students at a religious medical school.

BACKGROUND: Tzu Chi University in Taiwan offers a unique mentoring program. This program differs from others as it comprises triple mentorship, namely, faculty mentors, Tzu Cheng/Yi De (TC/YD; senior volunteers), and school counselors. This study aimed to survey the role functions of the mentors from the perspective of medical students. METHODS: The Role Functions of the Mentoring Program Scale (RFMPS) was developed on the basis of literature reviews and focus groups and it underwent exploratory factor analysis for internal consistency and reliability. RFMPS comprises four role functions, namely, mental, educational, career, and humanistic/moral guidance counseling. The survey was distributed to 171 medical students via an online network with two-month intervals and was analyzed using multivariate analysis of variance. RESULTS: The overall response rate was 64% (116/171). The mean scores of the four role functions in descending order belonged to faculty mentors, TC/YD, and school counselors. For humanistic/moral guidance, students had an equal preference for the faculty mentors and TC/YD over school counselors. As for educational, career, and mental guidance counseling, students preferred faculty mentors over TC/YD and school counselors. Faculty mentors provided students with the required guidance counseling for all the four role functions, especially educational guidance; TC/YD in particular offered prominent humanistic/moral guidance and career counseling; school counselors were less preferred but guided students in need. CONCLUSIONS: Medical students value different role functions provided by faculty mentors, TC/YD, and school counselors. A diversified focus could be provided by the faculty mentors, particularly in educational, career, mental, and humanistic/moral counseling; TC/YD specialized in humanistic/moral guidance; and the school counselors carried out their role function only when needed. Humanistic/moral guidance is equally preferred to other types of guidance, which can be equally valuable in future mentoring programs.

Socio-Demographic Factors Affect the Prevalence of Hematuria and Proteinuria Among School Children in Hualien, Taiwan: A Longitudinal Localization-Based Cohort Study.

Objective: Child hematuria/proteinuria is a risk factor for chronic kidney disease (CKD) in later life, and mass urinary screening could detect asymptomatic glomerulonephritis at an early stage. This study aimed to evaluate the longitudinal prevalence of hematuria/proteinuria and its association with socio-demographic factors among school children in Hualien, Taiwan. Methods: The study cohort consisted of first and fourth graders enrolled from 2008 to 2015 in Hualien. We combined the data from two consecutive health examinations to ensure the validity of the body mass index (BMI), urbanization, proteinuria, and hematuria grouping. Prevalence and health status differences between sex, age, BMI, and urbanization level were examined. Results: A total of 16,990 students within the same BMI and urbanization categories were included during the study interval. The prevalence of persistent hematuria was 1.0%. Fourth graders (odds ratio OR: 1.68, p = 0.002), girls (OR: 1.48, p = 0.014), and students from suburban/rural areas (OR: 1.99, and OR: 4.93, respectively; both p < 0.001) demonstrated higher hematuria risk. The prevalence of proteinuria was 0.2%. Fourth graders (OR: 4.44, p < 0.001) and students in suburban areas (OR: 0.27, p = 0.031) were associated with persistent proteinuria. After stratifying by age, the significant association remained. A higher risk of proteinuria was noted in underweight subjects (OR: 2.52, p = 0.023) among the fourth-grade students. Conclusion: The prevalence of hematuria/proteinuria in Hualien was higher than the average reported for Taiwan. Hematuria/proteinuria was significantly associated with sex, age, BMI, and urbanization. Our longitudinal results can provide information for future pediatric CKD prevention in Taiwan.

A qualitative study of clinical narrative competence of medical personnel.

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.

Parenting stress and depressive symptoms in the family caregivers of children with genetic or rare diseases: The mediation effects of coping strategies and self-esteem.

Objective: To elucidate how parenting stress influence depressive symptoms in the family caregivers of children with genetic or rare diseases by examining the mediation effects of coping strategies (problem-focused, emotion-focused, and dysfunctional coping) and self-esteem. Materials and Methods: In total, 100 family caregivers were recruited and administered a questionnaire assessing demographics and study measures. We used the PROCESS for SPSS macro with 10,000 bootstrapped samples and a 95% confidence interval to test the proposed mediation models. Results: Increased parenting stress was associated with more depressive symptoms, partially via dysfunctional coping, but not problem- or emotion-focused coping strategies. The serial multiple mediation pathway (parenting stress → low self-esteem → dysfunctional coping → depressive symptoms) was not significant, whereas the indirect effect of via dysfunctional coping alone had a significantly partial mediation effect. Conclusions: Dysfunctional coping strategies may explain the parenting stress-depressive symptom relationship. The goals of psychosocial medical care for family caregivers were suggested.

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

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 8-plex 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.

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.

RASopathies are developmental diseases caused by mutations in rat sarcoma-mitogen-activated protein kinase pathway genes. These disorders, such as Noonan syndrome (NS) and NS-related disorders (NSRD), including cardio-facio-cutaneous (CFC) syndrome, Costello syndrome (CS), and NS with multiple lentigines (NSML; also known as LEOPARD syndrome), have a similar systemic phenotype. A wide spectrum of congenital heart disease and hypertrophic cardiomyopathy (HCMP) can exhibit major associated characteristics. A retrospective study was conducted at the Mackay Memorial Hospital, National Taiwan University Hospital, Buddhist Tzu-Chi General Hospital, Chang-Gung Memorial Hospital, Taichung Veterans General Hospital, and Chung Shan Medical University Hospital from January 2007 to December 2018. We reviewed the clinical records of 76 patients with a confirmed molecular diagnosis of RASopathies, including NS, CS, CFC syndrome, and NSML. We evaluated the demographic data and medical records with clinical phenotypes of cardiac structural anomalies using cross-sectional and color Doppler echocardiography, electrocardiographic findings, and follow-up data. A total of 47 (61.8%) patients had cardiac abnormalities. The prevalence of cardiac lesions according to each syndrome was 62.7, 50.0, 60.0, and 66.7% in patients with NS, CFC syndrome, CS, and NSML, respectively. An atrial septal defect was usually combined with other cardiac abnormalities, such as pulmonary stenosis (PS), HCMP, ventricular septal defect, or patent ductus arteriosus. Patients with NS most commonly showed PS. In patients with NSRD and cardiac abnormalities, HCMP (29.4%) was the most commonly observed cardiac lesion. PTPN11 was also the most frequently detected mutation in patients with NS and NSRD. Cardiac abnormalities were the most common symptoms observed in patients with RASopathies at the time of their first hospital visit. Performing precise analyses of genotype-cardiac phenotype correlations in a larger cohort will help us accurately diagnose RASopathy as soon as possible.

Congenital generalized lipodystrophy in Taiwan.

BACKGROUND: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. METHODS: Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and molecular testing were retrospectively analyzed. RESULTS: A total of 16 patients were analyzed, and the current median age was 3.5 years (range, 9 months-17.5 years). In all patients, molecular results confirmed BSCL2 mutation. c.782dupG (p.Ile262Hisfs*12) was the most common genotype identified. All patients had triangular faces and muscular hypertrophy. In addition, 75% presented with hepatomegaly, 19% had cardiomegaly, and 44% exhibited acanthosis nigricans. Developmental delay was noted in 5 out of 9 patients (56%) with a median developmental quotient (DQ)/intelligence quotient (IQ) of 61. Thirteen patients (81.3%) had high triglyceride levels. Eight patients received leptin analysis, and 7 of them (88%) had low leptin levels. One patient exclusively received a lipid-lowering drug, 4 patients were exclusively placed on a fat-restricted diet, 5 patients were administered combination therapy, and 5 patients received no treatment. Three patients (19%) who developed diabetes mellitus received both oral hypoglycemic agents and insulin. Three patients (19%) experienced loss of ambulation and died prematurely. CONCLUSION: Our findings highlight the uniqueness of the genotype and phenotype in our cohort. Further long-term surveillance for comorbidities is necessary for early detection and management of these patients.

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.

Psychosocial issues discovered through reflective group dialogue between medical students.

BACKGROUND: The 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. METHODS: This 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. RESULTS: A 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. CONCLUSIONS: Clinical 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.

[Introduction to Genetic/Rare Disease and the Application of Genetic Counseling].

Genetic disease or hereditary disease is a group of disorders that is caused by mutations in an individual's genome. The mutated genome or gene may be transmitted through the germ line during reproduction, causing certain recurrence risk in offspring and other family members. The heritability of these disorders is thus an important issue to deal with clinically. In Taiwan, a rare disease is defined as a disease that is prevalent in fewer than 1 in 10,000 individuals. As up to 80% of rare disease cases in Taiwan are genetic disease disorders, genetic disease may not rare. The pathophysiology of genetic/ rare disease is very complicated. Individual disorders may have their own unique mechanisms (such as Fragile X syndrome), with most of these mechanisms still unclear or unknown. The symptoms and signs of genetic/rare disease thus present the greatest variabilities and cause difficulties in making diagnoses. Most related patients may present multiple congenital anomalies, metabolic disorders, growth and developmental delays, defects in cognition, neuromuscular abnormalities, and defects in vision, hearing or other organ functions. Symptomatic and supportive treatment still comprise a major component of treatment of genetic/rare disease (with the exception of special formulae for several inborn errors of metabolic disease and enzyme replacement therapy in some lysosomal storage disease). Poor self-care ability is common and the burden on caregivers is huge. Most rare disease patients are treated using a comprehensive rehabilitation program that begins during very early childhood, receive individual educational programs, and are continuously monitored with regard to their growth, developmental, and nutritional status. Inter-professional patient care, genetic counseling, and the creation of family support networks play an important role in family management. Public awareness and the creation of appropriate social systems and resources allocation are mandatory for proper care. The incidence of each genetic/rare disease is rare, but collectively they are important public health issue and a challenge to medical care.