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Article ; Online: Clinical, laboratory characteristics and growth outcomes of children with growing pains

Chung-Yuan Liao / Li-Chieh Wang / Jyh-Hong Lee / Kuan-Wen Wu / Yu-Tsan Lin / Yao-Hsu Yang / Bor-Luen Chiang / Hsin-Hui Yu

Scientific Reports, Vol 12, Iss 1, Pp 1-

2022 Volume 7

Abstract: Abstract Growing pains (GP), a common and benign pain syndrome of unknown etiology, is characterized by bilateral recurrent leg pain in childhood. There are no standardized diagnostic criteria for GP, and the diagnosis is often made by exclusion. To ... ...

Abstract	Abstract Growing pains (GP), a common and benign pain syndrome of unknown etiology, is characterized by bilateral recurrent leg pain in childhood. There are no standardized diagnostic criteria for GP, and the diagnosis is often made by exclusion. To identify clinical and laboratory features, we included patients < 12 years with GP at National Taiwan University Children’s Hospital between April 2006 and April 2019 in a retrospective study. We also compared body weight and body height z-scores between diagnosis and up to 2 years post-diagnosis to determine if rapid growth was associated with GP. This cohort study included 268 patients with a mean age of 4.7 ± 2.2 years. The most common features of GP were bilateral leg pain, no limitation of activity, intermittent pain, normal physical examination, and being well physically. The average number of Walters' criteria fulfilled by the patients with GP was 6.7 ± 0.9. Elevated serum levels of alkaline phosphatase (ALP) and lactate dehydrogenase (LDH) were observed in 37.5% and 15.6% of patients, respectively. Symptomatic medications were used in 33% of patients. Our study indicates that ALP and LDH may be biomarkers associated with GP. There was no significant association between GP and rapid growth within 2 years of diagnosis.
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2022-09-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome

Chia-Mei Chu / Hsin-Hui Yu / Tsai-Ling Kao / Yi-Hsuan Chen / Hsuan-Hsuan Lu / En-Ting Wu / Yun-Li Yang / Chin-Hsien Lin / Shin-Yu Lin / Meng-Ju Melody Tsai / Yin-Hsiu Chien / Wuh-Liang Hwu / Wen-Pin Chen / Ni-Chung Lee / Chi-Kang Tseng

npj Genomic Medicine, Vol 7, Iss 1, Pp 1-

2022 Volume 12

Abstract: Abstract Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in genes involved in telomere maintenance. Here, we identified male siblings from a family with HHS carrying a hemizygous ... ...

Abstract	Abstract Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in genes involved in telomere maintenance. Here, we identified male siblings from a family with HHS carrying a hemizygous mutation (c.1345C > G, p.R449G), located in the C-terminal nuclear localization signal (NLS) of the DKC1 gene. These patients exhibit progressive cerebellar hypoplasia, recurrent infections, pancytopenia due to bone marrow failure, and short leukocyte telomere lengths. Single-cell RNA sequencing analysis suggested defects in the NLRP3 inflammasome in monocytes and the activation and maturation of NK cells and B cells. In experiments using induced pluripotent stem cells (iPSCs) from patients, DKC1_R449G iPSCs had short telomere lengths due to reduced levels of human telomerase RNA (hTR) and increased cytosolic proportions of DKC1. Treatment with dihydroquinolizinone RG7834 and 3′deoxyanosine cordycepin rescued telomere length in patient-derived iPSCs. Together, our findings not only provide new insights into immunodeficiency in DC patients but also provide treatment options for telomerase insufficiency disorders.
Keywords	Medicine ; R ; Genetics ; QH426-470
Subject code	616
Language	English
Publishing date	2022-10-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Altered glycosylation of circulatory IgA1 involved in Henoch-Schönlein purpura and IgA nephropathy

Hsin-Hui Yu / Bor-Luen Chiang / Yao-Hsu Yang

Journal of the Formosan Medical Association, Vol 111, Iss 3, Pp 121-

2012 Volume 122

Keywords	Medicine (General) ; R5-920
Language	English
Publishing date	2012-03-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Tai Chi Chuan Exercise Improves Lung Function and Asthma Control through Immune Regulation in Childhood Asthma

Pei-Chun Liao / Han-Hong Lin / Bor-Luen Chiang / Jyh-Hong Lee / Hsin-Hui Yu / Yu-Tsan Lin / Yao-Hsu Yang / Pei-Yi Li / Li-Chieh Wang / Wei-Zen Sun

Evidence-Based Complementary and Alternative Medicine, Vol

2019 Volume 2019

Abstract: Background. Tai Chi Chuan (TCC) is an exercise of low to moderate intensity with key features of mindfulness, structural alignment, and flexibility to relax the body and mind in adults. Our previous study showed that TCC could improve the quality of life ...

Abstract	Background. Tai Chi Chuan (TCC) is an exercise of low to moderate intensity with key features of mindfulness, structural alignment, and flexibility to relax the body and mind in adults. Our previous study showed that TCC could improve the quality of life (QoL), pulmonary function, and fractional exhaled nitric oxide in asthmatic children. We further investigated whether the benefits induced by TCC were associated with immune regulation. Method. Six- to twelve-year-old children diagnosed with mild to severe persistent asthma for at least one year according to the Global Initiative for Asthma guidelines were enrolled from a tertiary pediatric allergy center in Taiwan. Asthmatic children were divided into two groups based on their choice: (1) the TCC group had a 60-minute TCC exercise session once weekly led by an instructor and (2) the control group kept their original activity levels. All other exercises were encouraged as usual. Pulmonary function tests, laboratory tests, standardized pediatric asthma QoL questionnaire (PAQLQ(S)), and childhood asthma control test (C-ACT) were performed before and after the TCC program (12 weeks). Data on medications and exacerbations were collected from medical records. Results. There were no differences between the TCC (n = 25) and control (n = 15) groups at baseline, except that the C-ACT showed significantly lower results in the TCC group (p=0.045). After 12 weeks, the number of leukocytes (p=0.041) and eosinophils (p=0.022) decreased, while regulatory T cells increased significantly (p=0.008) only in the TCC group. Lung functions (FEV1 and PEFR) were significantly improved in both the TCC (p<0.001) and control (p=0.045 and 0.019, respectively) groups, while the PAQLQ(S) and C-ACT (p<0.001) showed improvement only in the TCC group. Moreover, compared to the control group, the exacerbations within 12 weeks after the study were significantly decreased in the TCC group (p=0.031). After multiple regression by a conditional forward method, the factors that were ...
Keywords	Other systems of medicine ; RZ201-999
Subject code	796
Language	English
Publishing date	2019-01-01T00:00:00Z
Publisher	Hindawi Limited
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Clinical characteristics and outcomes of primary antibody deficiency

Hung-Yi Chan / Yao-Hsu Yang / Hsin-Hui Yu / Yin-Hsiu Chien / Li-Lan Chiang / Bor-Luen Chiang

Journal of the Formosan Medical Association, Vol 113, Iss 6, Pp 340-

A 20-year follow-up study

2014 Volume 348

Abstract: Primary antibody deficiency is the most common disorder among primary immunodeficiencies. Recurrent infection and chronic lung change often lead to mortality and morbidity. Methods: This study focused on the clinical presentation, molecular diagnosis, ... ...

Abstract	Primary antibody deficiency is the most common disorder among primary immunodeficiencies. Recurrent infection and chronic lung change often lead to mortality and morbidity. Methods: This study focused on the clinical presentation, molecular diagnosis, and outcomes of primary antibody deficiency in Taiwan pediatric group. Medical records of patients with primary antibody deficiency during the period 1990–2010 were retrospectively reviewed in one medical center. Results: Among the 34 patients evaluated, X-linked agammaglobulinemia (XLA) (29.4%) and common variable immunodeficiency diseases (CVIDs) (29.4%) were the most common disorders presented with respiratory and skin infections. Some genotype/phenotype discordance was found in one family. Patients with XLA, CVID, and hyper-IgM syndrome without complications had higher trough and initial IgG levels, and shorter delays in diagnosis. Patients with trough IgG levels >700 mg/dL had less occurrence of bronchiectasis. Conclusion: These results summarized clinical manifestations of primary antibody deficiency in pediatric group in Taiwan. Clinicians should strive to shorten delays in diagnosis and maintain higher trough IgG levels to decrease subsequent mortality and morbidity.
Keywords	common variable immunodeficiency diseases ; hyper-IgM syndrome ; primary antibody deficiency ; Taiwan ; X-linked agammaglobulinemia ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2014-06-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Tai-Chi-Chuan Exercise Improves Pulmonary Function and Decreases Exhaled Nitric Oxide Level in Both Asthmatic and Nonasthmatic Children and Improves Quality of Life in Children with Asthma

Hsin-Chia Lin / Hao-Pai Lin / Hsin-Hui Yu / Li-Chieh Wang / Jyh-Hong Lee / Yu-Tsan Lin / Yao-Hsu Yang / Pei-Yi Li / Wei-Zen Sun / Bor-Luen Chiang

Evidence-Based Complementary and Alternative Medicine, Vol

2017 Volume 2017

Abstract: Tai-Chi-Chuan (TCC) is an exercise of low-to-moderate intensity which is suitable for asthmatic patients. The aim of our study is to investigate improvements of the lung function, airway inflammation, and quality of life of asthmatic children after TCC. ... ...

Abstract	Tai-Chi-Chuan (TCC) is an exercise of low-to-moderate intensity which is suitable for asthmatic patients. The aim of our study is to investigate improvements of the lung function, airway inflammation, and quality of life of asthmatic children after TCC. Participants included sixty-one elementary school students and they were divided into asthmatic (n=29) and nonasthmatic (n=32) groups by the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire. Among them, 20 asthmatic and 18 nonasthmatic children volunteered to participate in a 60-minute TCC exercise weekly for 12 weeks. Baseline and postintervention assessments included forced expiratory volume in one second (FEV1), forced vital capacity (FVC), peak expiratory flow rate (PEFR), fractional exhaled nitric oxide (FeNO) level, and Standardised Pediatric Asthma Quality of Life Questionnaire (PAQLQ(S)). After intervention, the level of FeNO decreased significantly; PEFR and the FEV1/FVC also improved significantly in both asthmatic group and nonasthmatic group after TCC. The asthmatic children also had improved quality of life after TCC. The results indicated that TCC could improve the pulmonary function and decrease airway inflammation in both children with mild asthma and those without asthma. It also improves quality of life in mild asthmatic children. Nevertheless, further studies are required to determine the effect of TCC on children with moderate-to-severe asthma.
Keywords	Other systems of medicine ; RZ201-999
Subject code	360
Language	English
Publishing date	2017-01-01T00:00:00Z
Publisher	Hindawi Limited
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Initial manifestations and clinical course of systemic onset juvenile idiopathic arthritis

Hu-Yuan Tsai / Jyh-Hong Lee / Hsin-Hui Yu / Li-Chieh Wang / Yao-Hsu Yang / Bor-Luen Chiang

Journal of the Formosan Medical Association, Vol 111, Iss 10, Pp 542-

A ten-year retrospective study

2012 Volume 549

Abstract: The diagnosis of systemic onset juvenile idiopathic arthritis (SoJIA) on disease onset is challenging and made mainly by exclusion. This study aimed to investigate the initial clinical and laboratory features of children with SoJIA in Taiwan. Methods: ... ...

Abstract	The diagnosis of systemic onset juvenile idiopathic arthritis (SoJIA) on disease onset is challenging and made mainly by exclusion. This study aimed to investigate the initial clinical and laboratory features of children with SoJIA in Taiwan. Methods: Patients diagnosed with SoJIA at the National Taiwan University Hospital between 1997 and 2007 were evaluated and data were collected by retrospective chart review. Inferential statistics were used to compare features of patients with steroid use for <6 months or >6 months. Results: Twenty-eight (28) patients (13 boys and 15 girls) were included in this study. The mean age of onset was 8.7 years old. The most common presentations were fever (100%), arthritis (89.3%), and skin rash (67.9%). The patterns of arthritis in affected patients were 50% oligoarticular type and 39% polyarticular type. The most common joints involved were the knee (76% of patients with arthritis), ankle (56%), and elbow and proximal interphalangeal joints (28%). The most common pattern of fever during first week was intermittent (53%). Prolonged use of steroid was associated with leukocytosis (17.63±7.71 vs. 11.93±4.43×109 leukocytes/L, p<0.05) and higher aspartate aminotransferase (89.4 vs. 31.2 U/L, p<0.05) on initial presentation. Conclusion: In SoJIA, extra-articular features such as fever, rash, and lymphadenopathy are most prominent. Leukocytosis and polyarticular pattern on presentation may indicate a refractory clinical course.
Keywords	systemic juvenile idiopathic arthritis ; systemic onset juvenile rheumatoid arthritis ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2012-10-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Incidence of severe combined immunodeficiency through newborn screening in a Chinese population

Yin-Hsiu Chien / Shu-Chuan Chiang / Kai-Ling Chang / Hsin-Hui Yu / Wen-I Lee / Li-Ping Tsai / Li-Wen Hsu / Min-Huei Hu / Wuh-Liang Hwu

Journal of the Formosan Medical Association, Vol 114, Iss 1, Pp 12-

2015 Volume 16

Abstract: In order to know the true incidence of severe combined immunodeficiency (SCID) in a Chinese population, we conducted and implemented SCID newborn screening in Taiwan. Methods: Between May 1, 2010 and December 31, 2011, the National Taiwan University ... ...

Abstract	In order to know the true incidence of severe combined immunodeficiency (SCID) in a Chinese population, we conducted and implemented SCID newborn screening in Taiwan. Methods: Between May 1, 2010 and December 31, 2011, the National Taiwan University Hospital Newborn Screening Center screened all newborns for T-cell lymphopenia by measuring the copy number of T-cell receptor excision circles (TRECs) and RNase P. Newborns with low TREC values were subjected to complete blood cell counts and flow cytometry. Results: A total of 106,391 newborns were screened using the TREC assay over a period of 19 months. Five newborns were immediately referred for confirmatory tests, including two SCID patients and two patients with persistent T-cell lymphopenia; a third SCID patient was found 2 months after the study period. All three SCID cases received stem cell transplantation at the age of 2–5 months. We also identified five cases of 22q11.2 microdeletion syndrome. During this period, two SCID patients from among the unscreened newborns were reported, and they died at ages 3 months and 4 months, respectively. Conclusion: Newborn screening to measure the number of TREC copies successfully identifies newborns with T-cell lymphopenia, 22q11.2 microdeletion syndrome, and other high-risk conditions. Taken together, the incidence of T-cell lymphopenia in apparently healthy newborns is more than 1 in 11,821, and further attention to their immune functions is warranted.
Keywords	newborn screening ; severe combined immunodeficiency disease ; T-cell receptor excision circles ; TRECs ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2015-01-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Type I IL-1 Receptor (IL-1RI) as Potential New Therapeutic Target for Bronchial Asthma

Yao-Hsu Yang / Bor-Luen Chiang / Yu-Tsan Lin / Jyh-Hong Lee / Hsin-Hui Yu / Li-Chieh Wang

Mediators of Inflammation, Vol

2010 Volume 2010

Keywords	Pathology ; RB1-214 ; Medicine ; R ; DOAJ:Pathology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Language	English
Publishing date	2010-01-01T00:00:00Z
Publisher	Hindawi Publishing Corporation
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Juvenile idiopathic arthritis-associated uveitis

Hsin-Hui Yu / Pau-Chung Chen / Li-Chieh Wang / Jyh-Hong Lee / Yu-Tsan Lin / Yao-Hsu Yang / Chang-Ping Lin / Bor-Luen Chiang

PLoS ONE, Vol 8, Iss 8, p e

a nationwide population-based study in Taiwan.

2013 Volume 70625

Abstract: OBJECTIVE: The incidence and prevalence of juvenile idiopathic arthritis (JIA) vary widely across the world but data in East Asia is lacking. Uveitis is a serious cause of morbidity in JIA. This study aimed to analyze the incidence and prevalence of JIA, ...

Abstract	OBJECTIVE: The incidence and prevalence of juvenile idiopathic arthritis (JIA) vary widely across the world but data in East Asia is lacking. Uveitis is a serious cause of morbidity in JIA. This study aimed to analyze the incidence and prevalence of JIA, and the characteristics of JIA-associated uveitis in Taiwan. METHODS: A population-based cohort study was conducted using the Taiwan National Health Insurance Research Database. Each patient was individually tracked from 1999 to 2009 to identify the diagnosis of JIA and uveitis using the International Classification of Diseases diagnostic codes. Multivariate logistic regression was used to determine the risk factors and complications of uveitis in patients with JIA. RESULTS: The study cohort had 2636 cases of JIA and included juvenile rheumatoid arthritis (57.7%), enthesitis-related arthritis (ERA) (39.2%), and psoriatic arthritis (3.1%). The average annual incidence of JIA and JIA-associated uveitis were 4.93 (range, 3.93-6.23) and 0.25 (range, 0.12-0.37) cases per 100,000 population, respectively. The average period prevalence of JIA was 33.8 cases per 100,000 population. Uveitis occurred in 4.7% of patients with JIA, while JIA-associated uveitis was complicated by cataract (11.2%) and glaucoma (24.8%). Enthesitis-related arthritis was significantly associated with uveitis (OR: 3.47; 95% CI: 2.24-5.37) (p<0.0001). Uveitis diagnosed before JIA was the most significant risk factor for complications of glaucoma or cataract (OR: 3.54; 95% CI: 1.44-8.72) (p = 0.006). CONCLUSIONS: The incidence of JIA is low but that of JIA-associated uveitis is increasing. Higher percentage of males in patients with ERA and the strong association between ERA and uveitis are unique for children with JIA in Taiwan. Uveitis diagnosed before arthritis is an important risk factor for complications. Continuous ophthalmologic follow-up is needed for children with JIA or uveitis of unknown etiology.
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2013-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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