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This cross‐sectional study examined sleep disturbance associations between parents and their school‐age children with overweight and obesity. A 7‐day wrist‐worn actigraph recording was performed on 246 children aged 6–9 years with overweight and obesity recruited from 10 public elementary schools in Taipei, Taiwan. Children's sleep disturbance was assessed using the Children's Sleep Habits Questionnaire. Parental subjective sleep quality was assessed using the Pittsburgh Sleep Quality Index, with parental depressive symptoms measured using the Epidemiologic Studies‐Depression Scale. General linear models were used to examine sleep disturbance associations within parent‐child dyads. The results showed that 208 (84.6%) children had a clinically significant sleep disturbance score, and 123 (50%) parents had poor sleep quality. Higher children's sleep disturbance scores significantly predicted poorer parental sleep quality (b = 0.11, p < 0.001). Poorer parental sleep quality was associated with more severe sleep disturbances in children (b = 0.46, p < 0.001). This association was independent of children's actigraphic sleep (all p > 0.05) and was not attenuated by adjustment for parental depressive symptoms (b = 0.14, p < 0.001). Findings from our study suggest that sleep disturbances occur in both parents and their school‐age children with overweight and obesity, with a significant bidirectional association between the two. Nurses and healthcare professionals should proactively assess and screen for sleep disturbances in parent‐child dyads of children with overweight and obesity. Future studies should develop family‐based sleep interventions and evaluate their effects on the sleep, health, and well‐being of children with overweight and obesity and their parents. [ABSTRACT FROM AUTHOR]

This randomized controlled trial was conducted to assess the effectiveness of a family‐based and mobile‐assisted lifestyle intervention in reducing weight gain among school‐age children with overweight and obesity. A total of 164 school‐age children with overweight or obesity and their parents were randomized to the treatment intervention (n = 82) or an attention‐control group (n = 82). The treatment intervention included three face‐to‐face education sessions, augmented by monthly text messages sent to parents on their mobile devices. The primary outcome was child BMI‐for‐age z‐score. Secondary outcomes included child BMI, percent body fat, and actigraphy‐assessed sleep as well as parental sleep quality. Outcomes were assessed at baseline, 3, 6, and 12 months after the intervention, with treatment effects analyzed using general linear models for repeated measures. Our results showed that children in the treatment intervention group had significantly lower BMI‐for‐age z score, BMI, and percent body fat than did those in the control group, with an adjusted mean difference of 0.31 units (95% CI: −0.59 to −0.03; p = 0.03), 1.34 kg/m² (95% CI, −2.42 to −0.26; p = 0.01), and 3.12% (95% CI, −5.93 to −0.30; p = 0.03), respectively. No treatment effects were observed for child and parental sleep. Our findings suggest that family‐based and mobile‐assisted lifestyle intervention results in significant and sustained benefits to enhanced weight management for school‐age children with overweight and obesity. Nurses planning and delivering childhood overweight and obesity treatment interventions should consider a family‐based approach with the assistance of mobile devices. [ABSTRACT FROM AUTHOR]

This was a cross‐sectional study to examine sleep and its variability in relation to behavioral outcomes in school‐age children with overweight and obesity. A total of 246 school‐age children with overweight or obesity were recruited between 2019 and 2021 from 10 public elementary schools in Northern Taiwan. Parents completed sleep and behavior questionnaires, with children wearing an actigraphy monitor for 7 days. Average daily sleep duration by actigraphy was 7.52 h, with 84.6% of the children having clinically significant sleep disturbance scores and 68.3% having a total behavior problem score in the clinical range. Children were categorized by median split for sleep duration and sleep duration variability. Multivariate regression analyses showed that children in the insufficient (duration)‐stable (variability) sleep category had significantly higher scores for emotion problems (B = 0.94, p = 0.01), self‐control problems (B = 1.61, p < 0.01), and total behavior problems (B = 3.38, p < 0.01) compared to children in the sufficient‐stable sleep (reference) category. Children in the insufficient‐variable sleep category had significantly higher self‐control problem scores compared to children in the reference category (B = 1.03, p < 0.05). Findings from our study suggest that school‐age children with overweight and obesity coexist with sleep and behavioral problems, and those who have consistently insufficient sleep are at the greatest risk for the worst behavioral outcomes. Screening for sleep habits and behavioral problems should be considered a standard practice in pediatric overweight and obesity. [ABSTRACT FROM AUTHOR]

To examine the association between sleep pattern regularity and measures of weight and length in infants. This was a prospective observational study conducted in a university-affiliated children's hospital in northern Taiwan. A total of 316 healthy infants recruited during their 6-month well-child checkups had their weight and recumbent length measured, and wore an actigraph on the ankle for a week. Based on average weekday, weekend, and all-week sleep durations, infants were categorized into 3 groups: regular sleep, weekend catch-up sleep, and weekend sleep curtailment. General linear model analyses were performed with the 3 sleep regularity groups as the primary predictor variable of interest and infant anthropometry as the dependent variable. At risk of overweight, overweight, and obese was present in a total of 62 (19.6%) infants. In both unadjusted and adjusted models, infants in the weekend catch-up sleep group (30.4%) and those in the weekend sleep curtailment group (34.5%) had significantly higher weight-to-length ratios, body mass index, weight-for-age z-scores, and weight velocity of 6-month increments z-scores when compared with infants in the regular sleep group (35.1%, all p < 0.05). Differences in weekday-weekend sleep exist as early as in the first 6 months of life, and both catch-up sleep and sleep curtailment over the weekend is associated with higher measures of weight and length in infants. Sleep assessments in well-child checkups should include not only global assessments of average sleep duration but also address sleep patterns and their regularity. • Differences in weekday-weekend sleep exist in the first 6 months of life. • Sleep irregularity is linked to higher measures of weight and length in infants. • Average sleep duration may not be predictive of infant weight and length. • Sleep assessments in well-child checkups should include sleep pattern regularity. [ABSTRACT FROM AUTHOR]

Short stature and intellectual disability are two of the major components of many dysmorphic syndromes. Jansen-de Vries syndrome (JDVS) is a rare syndromic disorder that was discovered recently using next-generation sequencing. It is characterized by hypotonia, developmental delay, a dysmorphic face, short stature, and high pain threshold and is caused by the variants of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. Here, we report the first two cases of PPM1D mutations in Taiwan; both had de novo variants in exon 6. Both presented with short stature, developmental delay, and dysmorphic faces. In addition to the characteristics listed above, syndactyly was noted in one. Genetic studies should be considered when approaching a patient with growth retardation, intellectual disability, and other major or minor dysmorphisms. [ABSTRACT FROM AUTHOR]

Background: Endocrine disorders are common in patients with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to elucidate the clinical manifestations of endocrine disorders, including parathyroid, thyroid and growth disorders, in Taiwanese patients with 22q11.2DS. Methods: From 1994 to 2020, the medical records of 138 patients with 22q11.2DS diagnosed at a tertiary referral medical center in Taiwan were thoroughly reviewed retrospectively. Results: Hypocalcemia was detected in 57 of 135 patients (42%); 33 of 104 patients (32%) had hypoparathyroidism, and in 87% of them, hypocalcemia was detected before the age of one. Most patients had precipitating stressors during symptomatic hypocalcemic episodes. Eighteen of 29 patients had overt hypoparathyroidism at the last visit: 11 had persistent hypoparathyroidism and the other seven had recurrent hypoparathyroidism. Four of 84 patients had thyroid disorders, including thyroid developmental anomalies in two, dyshormonogenesis in one and Graves' disease in one. Fifty of 126 patients (40%) had short stature. Age (odds ratio (OR) 0.91; 95% confidence interval (CI) 0.86-0.96; P <0.001) and airway anomalies (OR 2.75; 95% CI 1.04-7.31; P <0.05) were significant risk factors for short stature in multivariate logistic regression model. Twenty-eight of the 30 patients with airway anomalies were associated with severe congenital heart disease. Adult height standard deviation score (SDS) in 19 patients was significantly lower than target height SDS (-1.15 ± 0.90 vs -0.08 ± 0.65, P <0.001). Conclusions: Hypoparathyroidism is a common endocrine disorder in patients with 22q11.2DS. It is prudent to assess parathyroid function at diagnosis and during follow-up, especially in the presence of stress, to prevent symptomatic hypocalcemia. Although thyroid disorders are not so common as hypoparathyroidism, screening of thyroid dysfunction is justified in these patients. Patients with 22q11.2DS demonstrate a retarded growth pattern with a tendency of catch-up and regular monitoring of growth is indicated. [ABSTRACT FROM AUTHOR]

Aims: To examine the association of the timing and consistency of parent bedtime routines with infant night‐time sleep duration and variability. Design: This was a prospective observational study conducted between November 2012 and November 2016. Methods: Three hundred and twenty healthy 6‐month‐old infants were recruited from the well‐child clinics of a university‐affiliated hospital in northern Taiwan. Participating families provided sociodemographic, health and bedtime routine information. Infants wore an actigraph on the ankle for a week. General linear model analysis was performed with the frequency and timing of bedtime routines treated as the primary predictor variables of interest. Results: One hundred and ninety‐seven (61.6%) parents started the bedtime routine for infants after 9 PM, with 162 (50.6%) not having the exact same bedtime routine every night. In both crude and adjusted analyses, starting a bedtime routine after 9 PM was associated with shorter infant night‐time sleep duration (b = −23.55, p < 0.01). Infants with a bedtime routine of <3–4 nights per week were associated with more variable night‐time sleep duration than a bedtime routine of 5–6 nights per week (b = −7.81, p < 0.05) or every night (b = −8.47, p < 0.05). Conclusion: A bedtime routine of at least 5 nights a week and initiated no later than 9 PM was associated with longer and less variable night‐time sleep in infancy. Findings suggest that a consistent bedtime routine implemented in accordance with age‐appropriate bedtimes should be addressed as part of anticipatory guidance in the well‐child clinics. Future studies should include infant sleep variability as an outcome in addition to the conventional mean‐level sleep variable analyses to more thoroughly characterize bedtime routine effects. [ABSTRACT FROM AUTHOR]

Objective: Type 1 diabetes (T1D) has been linked to enterovirus infection in small population-based epidemiological studies. We investigated the secular relationship of T1D incidence with enterovirus infection and enterovirus species using nationwide population-based analysis.Research Design and Methods: We accessed the National Health Insurance Research Database of Taiwan to identify T1D and enterovirus infection cases from 2001 to 2015. Enterovirus serotype isolation rates were obtained from the nationwide laboratory surveillance systems. Negative binomial regression models assessed the incidence trend, and extended Cox proportional hazards models analyzed the association of enterovirus infection with T1D incidence. Spearman correlation coefficients evaluated the correlation between T1D incidence and circulating enterovirus species.Results: T1D incidence rates in youth younger than 20 years were 6.30 and 5.02 per 100,000 person-years in 2001 and 2015 (P = 0.287), respectively. T1D incidence increased significantly in children aged 0-6 years (P < 0.001) but decreased in adolescents aged 13-19 years (P = 0.011). The T1D risk in children aged 0-6 years with enterovirus infection was significantly higher than that in noninfected subjects (hazard ratio 1.46; 95% CI 1.35-1.58; P < 0.001). Additionally, TID incidence in children aged 0-6 years was significantly correlated with the isolation rates of coxsackievirus A species (r = 0.60; P = 0.017), but no association was found beyond the age of 7.Conclusions: We demonstrated that T1D incidence increased in children aged 0-6 years but decreased in adolescents aged 13-19 years in Taiwan. Enterovirus-infected subjects younger than 7 years had a higher risk of T1D than noninfected subjects. [ABSTRACT FROM AUTHOR]

Background: Stroke is a leading cause of death, morbidity and disability worldwide. Infection is a common complication in the acute phase after stroke. Herpes zoster is a common viral disease, in which the most debilitating complication is post-herpetic neuralgia, which can have a very large negative impact on quality of life. The aim of this study was to investigate whether stroke increases the risk of herpes zoster. Methods: This cohort study compared patients who had herpes zoster with and without a first incident of stroke. The Taiwan National Health Insurance Research Database was utilized to identify 20,551 stroke patients and 20,551 controls matched for age, gender, age categories and Charlson Comorbidity Index (CCI) score categories at a one-to-one ratio. Cox proportional-hazards regression models were employed to estimate herpes zoster risk in the stroke group relative to general population. Results: Compared to the control group, the stroke group had a greater risk for herpes zoster, especially within 1 year after stroke (adjust HR = 25.27). Both hemorrhagic stroke and ischemic stroke were significantly associated with herpes zoster (hemorrhagic type (IRR = 2.31, 95% CI, 1.67–3.20); ischemic type (IRR = 2.51, 95% CI 2.09–3.02)). However, the hemorrhagic stroke patients had a higher risk of herpes zoster ophthalmicus (IRR = 12.46, 95% CI 4.00–38.76) whereas the ischemic stroke patients had a higher risk of post-herpetic neuralgia (IRR = 2.24, 95% CI 1.56–3.20). Conclusion: Physicians should know about that adults with stroke have a higher than normal risk of herpes zoster. Thus, physicians must be acquainted with proper antiviral therapy and pain control to bring down the morbidity that ensues from herpes zoster. Use of herpes zoster vaccine may be considered in stroke patients. [ABSTRACT FROM AUTHOR]

Thyroid disorders are common in children with Down syndrome (DS), however, such data have rarely been reported in Taiwanese children. This study presents our experience with the management of these children. Between 2006 and 2016, 51 children (31 boys and 20 girls) with DS were enrolled. Thyroid function was evaluated and natural course of thyroid status were analyzed. Of 51 patients with DS, 2 had congenital hypothyroidism due to dyshormonogenesis. Of the remaining 49 patients, 30 (61%) had euthyroidism (EuT), and 19 (39%) had subclinical hypothyroidism (SH). Eighteen (37%) had detectable thyroid antibodies. It occurred at any age and the incidence was not affected by sex. The mean follow-up duration for 39 DS children was 3.8 ± 2.4 years. Of the 26 children who had EuT at enrollment and were followed up, 22 remained EuT, 2 developed SH, 1 developed overt hypothyroidism, and 1 developed overt hyperthyroidism. Of the 13 patients with SH who were followed up, 1 was treated for high thyroid-stimulating hormone levels, 8 became EuT, and 4 maintained SH status. Children with DS and persistent SH had significantly higher maximum thyroid-stimulating hormone levels during follow-up than did those with transient SH. Fluctuation in thyroid status during follow-up was not uncommon in children with DS. The prevalence of thyroid disorders is higher in Taiwanese children with DS than in the general population. Because symptoms of hypothyroidism overlap those inherent to DS, regular follow-up of thyroid function in children with DS is indicated. [ABSTRACT FROM AUTHOR]

Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case in which Beckwith‐Wiedemann syndrome (BWS) was first suspected because of placental mesenchymal dysplasia. Although the baby did not show the stigmata characteristic of BWS or abnormal peripheral blood methylation, she developed a massive pancreatoblastoma 2 months later. She survived after partial excision of the tumor and chemotherapy. The methylation pattern of the pancreatoblastoma tissue was typical of BWS. Single nucleotide polymorphism (SNP) array analyzes revealed that the pancreatoblastoma tissue had genome‐wide loss of maternal alleles. Peripheral blood and nontumor pancreatic tissue showed normal biparental genomic contribution. Interphase fluorescence in situ hybridization analysis with centromeric probes for chromosomes 2 and 11 revealed haploid pancreatoblastoma cells, whereas the placental mesenchymal dysplasia tissue and nontumor pancreas tissue showed diploidy. SNP genotype analysis suggested the presence of mosaicism with the pancreatoblastoma tissue having a different paternal haplotype than that of the peripheral blood and nontumor pancreatic tissue. We report for the first time mosaic paternal haploidy associated with pancreatoblastoma. Babies with placental mesenchymal dysplasia, even those without a definitive diagnosis of BWS, need to be closely followed for the occurrence of embryonic tumors. [ABSTRACT FROM AUTHOR]

Adequate physical activity is associated with improved sleep in adults. Such associations, however, vary greatly across studies in pediatric populations, with no studies involving infants found in the literature. This prospective observational study was designed, therefore, to examine the association between physical activity and sleep patterns in infants. A total of 183 healthy infants aged 6 months wore an actigraph for 7 days to measure physical activity and sleep. Parents and caregivers completed a sleep‐activity diary over the same period documenting the different types of infant activities. Daily mean time spent in screen‐time‐or‐limited physical activity, including screen‐based (e.g., watching television or other electronic devices) and non‐screen based activity (e.g., quiet play or restricted infant movement when carried by caregivers or seated in high chairs, swings, or bouncer seats), was 6.68 hr (SD = 1.99), which represented 47.50% of daytime waking hours (SD = 13.73). We found that 65 (35.5%) infants engaged in some screen time during the study, with 10 (5.5%) infants having an average daily screen time >30 min. In our multivariate linear regression model, more hours of screen‐time‐or‐limited physical activity per day were significantly associated with a decrease in total daily 24 hr sleep duration (p < 0.01). Findings from our study suggest that reducing screen‐time‐or‐limited physical activity might be an approach for promoting adequate sleep and lengthening infant daily sleep duration. [ABSTRACT FROM AUTHOR]

Background/purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children.Patients and Methods: We enrolled 19 patients from January 1981 to September 2016. The diagnosis of 45,X/46,XY mosaicism was made by karyotyping peripheral blood lymphocytes. All medical records were thoroughly reviewed.Results: Of the 19 patients, 16 were reared as females and 3 as males. The age at diagnosis ranged from 1 month to 15 years and 9 months. Atypical genitalia, short stature, and Turner stigmata were common manifestations. No patient exhibited a cardiac malformation but 29% had renal malformations and 12.5% had autoimmune thyroid disease who developed thyroid dysfunction later. Nine girls with short stature received growth hormone therapy and their height standard deviation score rose from -3.4 ± 1.1 to -1.4 ± 0.9 in adulthood (P < 0.01). The gonadal phenotypes included bilateral streak gonads in nine patients, a streak gonad with contralateral gonadal agenesis in one, mixed gonadal dysgenesis in five, bilateral dysgenetic testes in two, and bilateral gonadoblastomas in one.Conclusion: The 45,X/46,XY phenotype varies widely and a high index of suspicion is important to ensure early diagnosis. Cardiac and renal malformations should be screened ultrasonically at diagnosis and thyroid status should be monitored annually. Growth hormone effectively improves adult height in short girls. Prophylactic gonadectomy is indicated for those with intra-abdominal streaks or dysgenetic gonads to prevent the development of a malignancy. [ABSTRACT FROM AUTHOR]

Aim: Gout is a common complication in kidney transplant recipients. This study evaluated the association between kidney transplant recipients and the long‐term risk of incident gout. Method: For this age‐matched and sex‐matched retrospective cohort study, the Catastrophic Illness Certificate Database and the National Health Insurance Research Database were combined between 1997 and 2010. The study included 5917 patients with kidney transplants and 23 668 matched kidney transplant‐free subjects. Hazard ratio (HR) for risk of incident gout was calculated using the Cox proportional hazards regression. Results: In this study, of the 5917 kidney transplant recipients, 521 (8.8%) had gout. The kidney transplant group had a higher risk of incident gout than those in the matched kidney transplant‐free group (adjusted HR = 1.55, 95% confidence intervals [CI] = 1.36‐1.77), particularly within 3 years following kidney transplant recipients (adjusted HR = 2.61, 95% CI = 2.13‐3.20). We observed that at the >3 to 6 years and the >6 to 9 years follow‐up, patients with kidney transplant did not have a significant association with risk of incident gout (adjusted HR = 0.92, P = 0.4806 and adjusted HR = 1.26, P = 0.1901, respectively). Conclusion: These findings revealed that risk of incident gout increased within 3 years following kidney transplant recipients and the individual's long‐term risk of incident gout between kidney transplant recipients and the general population remained similar. [ABSTRACT FROM AUTHOR]

Background: SHOX deficiency is a common cause of idiopathic short stature. The aim of this study was to describe the clinical characteristics and molecular findings of patients with SHOX deficiency in Taiwan.Methods: A phenotype scoring system was used to evaluate several anthropometric measures in patients with idiopathic short stature. Twenty-three patients with a phenotype score >7 were enrolled for SHOX gene analysis by MLPA and sequencing. Another patient with a deletion/insertion of the short arm of the X chromosome containing the SHOX gene was enrolled for the assessment.Results: SHOX deficiency was detected in 26% of short children with a phenotype score >7. The arm-span-to-height ratio was significantly lower in SHOX-D patients than in non-SHOX-D patients. In patients with SHOX deficiency, an arm-span-to-height ratio <96.5% and short forearm were the most common characteristics. Three patients also exhibited typical radiological findings. A molecular analysis of the SHOX gene revealed five patients with intragenic deletions, one with a deletion in the regulatory region, and one with a missense mutation at exon 5.Conclusion: The phenotype scoring system is useful to select children with SHOX deficiency in Taiwan. Family history and radiological image of the radius are also of value for the diagnosis. This study may aid physicians in the early diagnosis of children with SHOX deficiency. [ABSTRACT FROM AUTHOR]

Background/purpose: The number of children with nutritional rickets in Taiwan has increased over the last decade. The aim of this study was to present our experiences in the management of patients with this condition.Patients and Methods: From 2011 to 2016, 10 children (3 boys and 7 girls) with nutritional rickets were enrolled in this study. Their clinical and biochemical data were analyzed.Results: The median age of the 10 patients was 21 months (range, 12-25 months). The predisposing factors included exclusive breastfeeding, dietary restriction, and limited outdoor activities. The most common presentations were unsteady gait and bowlegs, and two patients had hypocalcemic seizures. All patients had elevated alkaline phosphatase levels (median, 1008 U/L; range, 484-2051 U/L), elevated serum intact parathyroid hormone levels (median, 333.8 pg/mL; range, 130-817 pg/mL), and hypophosphatemia (median, 3.0 mg/dL; range, 2.4-3.9 mg/dL). The median serum 25-hydroxyvitamin D level was 7.44 ng/mL (range, 1.44-9.82 ng/mL). After vitamin D supplementation was initiated, serum phosphorus levels normalized within 1 month, and serum intact parathyroid hormone levels returned to the normal range within 2 months. Six of the 10 patients had serum alkaline phosphatase levels close to the normal range within 3 months. All 10 patients exhibited complete bone healing within 6 months of vitamin D treatment.Conclusion: Nutritional rickets is not as rare in Taiwan as previously thought. When physicians encounter infants or toddlers with typical bone deformities or hypocalcemic seizures, a high index of suspicion and a detailed nutritional history are important for early diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Background: Type 1 diabetes (T1D) mellitus is an autoimmune disorder involving both complex genetic and environmental factors. The incidence rates are low in Asian countries, and the specific, explanatory genetic factors underlying this have been investigated. The aim of this study was to elucidate the association of human leukocyte antigen (HLA) alleles/haplotypes with T1D in Taiwan. Methods: We performed direct comprehensive genotyping of 6 classical HLA loci (HLA‐A, ‐B, ‐C, ‐DPB1, ‐DQB1, and ‐DRB1) to 4‐digit resolution in 104 unrelated T1D patients and 504 controls. Twenty‐four of the 104 patients also exhibited thyroid autoimmunity. Results: Three major susceptibility haplotypes were identified: DRB1*03:01‐DQB1*02:01 (odds ratio [OR] = 5.39 under the dominant model, P = 2.3 × 10−13), DRB1*04:05‐DQB1*04:01 (OR = 2.44, P = 5.0 × 10−4), and DRB1*09:01‐DQB1*03:03 (OR = 2.02, P = 1.4 × 10−3); one protective haplotype was identified: DRB1*08:03‐DQB1*06:01 (OR = 0.10, P = 1.6 × 10−3). DRB1*03:01‐DQB1*02:01, the major T1D susceptibility haplotype, was found at a lower frequency in T1D patients with thyroid autoimmunity. The T1D protective allele DRB1*12:02 was shown to be protective against Graves’ disease in our previous report. Conclusion: In addition to clarifying the roles of several known T1D HLA alleles and haplotypes, we discovered that the DRB1*08:03‐DQB1*06:01 haplotype is protective against T1D. The DRB1*12:02 allele protected against both T1D and Graves’ disease. [ABSTRACT FROM AUTHOR]

Background/purpose: Neonatal screening for congenital adrenal hyperplasia (CAH) has been conducted in Taiwan since 2000. This study aimed to determine the clinical characteristics of Taiwanese children with CAH due to 21-hydroxylase deficiency (21-OHD) detected by neonatal screening.Methods: From 2000 to 2015, 26 neonates (14 boys and 12 girls) with classic 21-OHD detected by neonatal screening and confirmed at National Taiwan University Hospital were enrolled. Among them, 22 were diagnosed as salt wasting (SW) type and four as simple virilizing (SV) type. Through a review of medical records, their clinical presentations, laboratory data, and molecular studies were analyzed.Results: The most common manifestation was hyperpigmentation. All female neonates regardless of 21-OHD type had atypical genitalia, clitoromegaly, and posterior labial fusion. All of the patients had baseline serum 17-hydroxyprogesterone levels higher than normal. Of the 26 patients, 24 had elevated adrenocorticotropic hormone levels, but only four had low serum cortisol levels. The median baseline adrenocorticotropic hormone, 17-hydroxyprogesterone, and androstenedione levels were significantly higher in patients with SW than in those with SV 21-OHD. All patients with SW 21-OHD had elevated plasma renin activity. The most frequent SW 21-OHD mutations were c.293-13C>G and gene deletion, whereas Ile173Asn and c.293-13C>G were the most frequently detected in SV 21-OHD.Conclusion: In Taiwan, neonatal screening effectively leads to the early diagnosis of CAH and reduces fatal adrenal crisis in neonates. This study may provide physicians with a better understanding of the clinical findings among children with early-diagnosed CAH, allowing for better care in the future. [ABSTRACT FROM AUTHOR]

Background/purpose: Cases of type 1 diabetes mellitus in children aged younger than 6 years in Taiwan has increased in the past 10 years. This retrospective study aimed to review the management experience of such patients in a single center.Methods: From January 2004 to June 2015, 52 newly diagnosed diabetic children younger than 6 years who had regular follow-up for > 1 year were enrolled, as well as 94 older diabetic children for comparison. Their medical records were thoroughly reviewed.Results: The most common symptoms and signs were polyuria, polydipsia, dry lips, weight loss, and nocturia. Among the children younger than 6 years, 87% had ketoacidosis upon diagnosis-significantly higher than that of the older age group-and 88% had at least one islet cell autoantibody detected. Their serum C-peptide levels were significantly lower and the frequency of insulin autoantibodies detected was significantly higher compared with the older age group (37% vs. 10%). The remission rate of the young diabetic patients was significantly lower than that of the older age group (40% vs. 59%), but there was no difference in time of onset and duration of remission between the two groups.Conclusion: Autoimmune destruction of pancreatic β-cells is an important cause of type 1 diabetes mellitus in Taiwanese children aged younger than 6 years. These patients usually have a low insulin reserve and severe ketoacidosis upon diagnosis. A high index of suspicion in the presence of classic symptoms of diabetes in young children is important to prevent complications. [ABSTRACT FROM AUTHOR]

Molecular weight markers that can tolerate denaturing conditions and be auto-detected by secondary antibodies offer great efficacy and convenience for Western Blotting. Here, we describe M&R LE protein markers which contain linear epitopes derived from the heavy chain constant regions of mouse and rabbit immunoglobulin G (IgG Fc LE). These markers can be directly recognized and stained by a wide range of anti-mouse and anti-rabbit secondary antibodies. We selected three mouse (M1, M2 and M3) linear IgG1 and three rabbit (R1, R2 and R3) linear IgG heavy chain epitope candidates based on their respective crystal structures. Western blot analysis indicated that M2 and R2 linear epitopes are effectively recognized by anti-mouse and anti-rabbit secondary antibodies, respectively. We fused the M2 and R2 epitopes (M&R LE) and incorporated the polypeptide in a range of 15–120 kDa auto-detecting markers (M&R LE protein marker). The M&R LE protein marker can be auto-detected by anti-mouse and anti-rabbit IgG secondary antibodies in standard immunoblots. Linear regression analysis of the M&R LE protein marker plotted as gel mobility versus the log of the marker molecular weights revealed good linearity with a correlation coefficient R2 value of 0.9965, indicating that the M&R LE protein marker displays high accuracy for determining protein molecular weights. This accurate, regular and auto-detected M&R LE protein marker may provide a simple, efficient and economical tool for protein analysis. [ABSTRACT FROM AUTHOR]

Background/purpose: Congenital hyperinsulinism (CHI) is a rare condition causing severe hypoglycemia in neonates and infants due to dysregulation of insulin secretion. This study aimed to review 20 years' experience in the management of Taiwanese children with CHI.Methods: Between 1990 and 2010, children diagnosed with CHI and followed up at the Pediatric Endocrine Clinic of the National Taiwan University Hospital were enrolled. Their medical records were thoroughly reviewed.Results: In total, 13 patients (8 boys and 5 girls) were enrolled, including six patients with onset of hypoglycemia within 1 month of age and seven patients at 4.0 ± 2.1 months of age. The birth weight standard deviation scores of these two age groups were 4.6 ± 1.8 and 1.4 ± 1.3 standard deviation score, respectively (p < 0.01). Initial intravenous glucose infusion at rates of 22.9 ± 5.3 mg/kg/min and 13.4 ± 5.6 mg/kg/min, respectively, were mandatory to maintain euglycemia in these two groups (p < 0.05). All received pancreatectomy after failure of initial medical treatment. Twelve patients were followed up for a period of 2.5-19.8 years. Eight of them remained euglycemic without any medication and three patients developed diabetes mellitus. Seven of the nine patients who underwent intelligence evaluation had normal mental outcomes. Mental retardation of two patients was too severe to be evaluated. All four patients with mental retardation had a delay in the maintenance of euglycemia, and three of them also had seizure disorder.Conclusion: The age at onset of hypoglycemia reflects the severity of CHI. Early diagnosis and appropriate treatment are important for favorable mental outcomes. [ABSTRACT FROM AUTHOR]