42 results on '"Niu, Dau-Ming"'
Search Results
2. Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α-Galactosidase
- Author
-
Li, Huang-Yi, Lin, Hung-Yi, Chang, Sheng-Kai, Chiu, Yu-Ting, Hou, Chung-Chien, Ko, Tzu-Ping, Huang, Kai-Fa, Niu, Dau-Ming, and Cheng, Wei-Chieh
- Abstract
The use of pharmacological chaperones (PCs) to stabilize specific enzymes and impart a therapeutic benefit is an emerging strategy in drug discovery. However, designing molecules that can bind optimally to their targets at physiological pH remains a major challenge. Our previous study found that dibasic polyhydroxylated pyrrolidine 5exhibited superior pH-selective inhibitory activity and chaperoning activity for human α-galactosidase A (α-Gal A) compared with its monobasic parent molecule, 4. To further investigate the role of different C-2 moieties on the pH-selectivity and protecting effects of these compounds, we designed and synthesized a library of monobasic and dibasic iminosugars, screened them for α-Gal A-stabilizing activity using thermal shift and heat-induced denaturation assays, and characterized the mechanistic basis for this stabilization using X-ray crystallography and binding assays. We noted that the dibasic iminosugars 5and 20protect α-Gal A from denaturation and inactivation at lower concentrations than monobasic or other N-substituted derivatives; a finding attributed to the nitrogen on the C-2 methylene of 5and 20, which forms the bifurcated salt bridges (BSBs) with two carboxyl residues, E203 and D231. Additionally, the formation of BSBs at pH 7.0 and the electrostatic repulsion between the vicinal ammonium cations of dibasic iminosugars at pH 4.5 are responsible for their pH-selective binding to α-Gal A. Moreover, compounds 5and 20demonstrated promising results in improving enzyme replacement therapy and exhibited significant chaperoning effects in Fabry cells. These findings suggest amino-iminosugars 5and 20as useful models to demonstrate how an additional exocyclic amino group can improve their pH-selectivity and protecting effects, providing new insights for the design of pH-selective PCs.
- Published
- 2024
- Full Text
- View/download PDF
3. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
- Author
-
Yang, Chia-Feng, Liao, Ting-Wei Ernie, Chu, Yen-Ling, Chen, Li-Zhen, Huang, Ling-Yi, Yang, Tsui-Feng, Ho, Hui-Chen, Kao, Shu-Min, and Niu, Dau-Ming
- Abstract
BackgroundStarting enzyme replacement therapy (ERT) before severe irreversible muscular damage occurs is important in infantile-onset Pompe disease (IOPD). This long-term follow-up study demonstrates our diagnostic and treatment strategies for IOPD and compares our clinical outcomes with those of other medical centres.MethodsIn this long-term follow-up study, we analysed the outcomes of very early ERT with premedication hydrocortisone in patients with IOPD. Out of 1 228 539 infants screened between 1 January 2010 and 28 February 2021, 33 newborns had confirmed IOPD in Taipei Veterans General Hospital. Twenty-six were regularly treated and monitored at Taipei Veterans General Hospital. Echocardiographic parameters, biomarkers, IgG antibodies against alglucosidase alpha, pulmonary function variables and developmental status were all assessed regularly over an average follow-up duration of 6.18±3.14 years. We compared the long-term treatment outcomes of our patients with those of other research groups.ResultsThe average age at ERT initiation was 9.75±3.17 days for patients with classic IOPD. The average of the latest antialglucosidase alpha IgG titre was 669.23±1159.23. All enrolled patients had normal heart sizes, motor milestones, cognitive function and pulmonary function that were near-normal to normal. Compared with patients in other studies, our patients had better outcomes in all aspects.ConclusionVery early ERT using our rapid diagnostic and treatment strategy enabled our patients with IOPD to have better outcomes than patients in other medical centres.
- Published
- 2023
- Full Text
- View/download PDF
4. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.
- Author
-
Kaya, Zühre, Sal, Ertan, Yorulmaz, Aslı, Hsieh, Yu-Ping, Gülen, Hüseyin, Yıldırım, Ayşen Türedi, Niu, Dau-Ming, and Tekin, Aziz
- Subjects
ANEMIA prevention ,ADENOSINE triphosphate ,GENETIC mutation ,SEQUENCE analysis ,GENETIC disorders ,DIET ,GAS chromatography ,SPLEEN diseases ,EZETIMIBE ,BLOOD diseases ,DESCRIPTIVE statistics ,PLATELET count ,PHYTOSTEROLS ,LIPID metabolism disorders ,THROMBOCYTOPENIA ,PHENOTYPES ,RARE diseases ,SYMPTOMS - Abstract
- Sitosterolemia should be considered in patients with unexplained macrothrombocytopenia. - Sitosterolemia should be diagnosed in patients with sitosterol level (>15 μg/mL). - Once an index case is identified, family members should also undergo sterol testing. - Four novel variants may expand the genetic spectrum of sitosterolemia. - Ezetimibe can be a good choice for hematologic abnormalities in sitosterolemia. Sitosterolemia is a rare lipid disorder caused by mutations in adenosine triphosphate-binding cassette genes (ABCG) 5 and 8. To evaluate the phenotypic/genotypic features of sitosterolemia in a group of Turkish patients. Seven probands with unexplained hematologic abnormalities and their 13 relatives were enrolled. Sterol levels were measured by gas chromatography and genetic studies were performed using Sanger sequencing. Individuals were diagnosed with sitosterolemia if they were found to have frankly elevated sitosterol level >15 μg/mL and/or pathogenic variants of the ABCG 5/ ABCG 8. The seven probands and their six relatives were diagnosed with frank sitosterolemia, and all these patients had hematologic abnormalities. The remaining seven relatives were asymptomatic heterozygous carriers. Three novel variants in the ABCG 5 gene (c.161G> A , c.1375C> T , IVS10–1G> T), one novel variant in the ABCG 8 gene (c.1762G> C) and one known variant in the ABCG 5 gene (c.1336 C > T) were identified. No variant was identified in one case. The mean sitosterol level was significantly higher and mean platelet count was significantly lower in patients with homozygous variants compared to heterozygous variants (p <0.05, for all). Diets low in plant sterols were recommended for 13 symptomatic cases. Four homozygotes received ezetimibe, and their splenomegaly, anemia, and thrombocytopenia completely resolved except one. The five pathogenic variants identified in this study indicate the genetic heterogeneity of sitosterolemia in Turkish population. Patients with unexplained hematologic abnormalities (specifically macrothrombocytopenia) should have their sterol level measured as initial testing. Ezetimibe can be a good choice for sitosterolemia. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
5. Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
- Author
-
Yeh, Tsai-Chu, Cheng, Hui-Chen, Li, Hsing-Yuan, Chi, Sheng Chu, Yang, Hsin-Yu, Yu, Jenn-Yah, Niu, Dau-Ming, and Wang, An-Guor
- Abstract
Background: We aim to characterise the ophthalmic findings and retinal vasculature changes in patients with WS, and to analyse the correlation between ophthalmic manifestations and the associated systemic diseases. Methods: This retrospective case-control study included 27 WS patients and 28 age-matched healthy participants. Stellate pattern of iris, central macular thickness (CMT), foveal width, retinal vessel diameter, superficial vascular density (SVD) of macula and foveal avascular zone (FAZ) were compared between WS patients and healthy participants. Results: Twenty-five patients (93%) had the classic stellate iris presentation. Compared with healthy controls, WS patients had decreased CMT, increased foveal width and a lower SVD of macula (all P< 0.001). Significantly decreased mean retinal arterial (117.9 ± 9.9 µm vs. 133.0 ± 6.7 µm in WS and controls, respectively; p< 0.001) and venous (158.9 ± 11.2 µm vs. 174.0 ± 8.0 µm in WS and controls, respectively; p< 0.001) outer diameters, as well as mean arterial wall thickness (11.2 ± 1.3 µm vs. 12.2 ± 0.8 µm in WS and controls, respectively; p< 0.01) were found in WS. Stellate iris grading was significantly associated with CMT, foveal width, retinal vessel diameter (all p< 0.05), and a significant increase in the odds of having hypertension (Odds ratio (OR), 5.63; P< 0.05). The severity of stellate iris in WS seemed to have the trend of increasing risk of having pulmonary stenosis, tricuspid regurgitation and mitral regurgitation. Conclusions: This study provides the first in vivo evidence reflecting current knowledge on vessel morphology in WS patients that deficient circumferential growth is the predominant pathophysiologic changes resulting from elastin deficiency. The ophthalmic characteristics may serve as a complementary tool to diagnose and follow-up patients suffering from WS.
- Published
- 2022
- Full Text
- View/download PDF
6. Unveiling novel LRP5pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
- Author
-
Chang, Hsin-Ho, Wang, An-Guor, Niu, Dau-Ming, Chen, Yun-Ru, and Weng, Chang-Chi
- Abstract
Purpose This report aims to delineate distinct phenotypes of Familial Exudative Vitreoretinopathy (FEVR) observed in a mother and her daughter, both harboring a novel LRP5pathogenic variation.Methods The investigation involves a retrospective review of medical records accompanied by multimodal imaging. Molecular characterization was performed using whole exon sequencing, and the pathogenic variant was subsequently confirmed through Sanger sequencing.Result A 6-year-old girl diagnosed with anisometropic amblyopia exhibited macular dragging and peripheral avascular retina in her right eye. Whole exon sequencing identified a previously unreported heterozygous missense LRP5pathogenic variation, Glu528Lys. Simultaneously, her 43-year-old mother also carried the same mutation, manifesting peripheral exudations, avascular areas, and multiple microaneurysms. Notably, both cases presented distinctive phenotypes of FEVR.Conclusion Our findings underscore the diversity in clinical presentations associated with FEVR, emphasizing the pivotal role of genetic evaluation. Despite variations in severity between the eyes of the same patient, it is crucial to remain vigilant for potential progression to a pathological status in the seemingly normal eye. Additionally, this study contributes to expanding the genetic spectrum of FEVR.
- Published
- 2024
- Full Text
- View/download PDF
7. Prognostic implications of left ventricular hypertrophy and mechanical function in Fabry disease: A longitudinal cohort study
- Author
-
Chang, Hao-Chih, Kuo, Ling, Sung, Shih-Hsien, Niu, Dau-Ming, and Yu, Wen-Chung
- Abstract
The prognostic value of different grades of left ventricular hypertrophy (LVH) and left ventricular (LV) mechanical function in Fabry disease is unclear. We aimed to evaluate the association between the severity of LVH, LV mechanical function, and clinical outcomes in Fabry disease.
- Published
- 2024
- Full Text
- View/download PDF
8. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review.
- Author
-
Chen, Jing-Er, Chen, Yun-Ru, Wang, Hsin-Hui, Niu, Dau-Ming, Cheng, Yen-Fu, and Chen, Yann-Jang
- Subjects
LITERATURE reviews ,FETOFETAL transfusion ,SYNDROMES ,MALES - Published
- 2023
- Full Text
- View/download PDF
9. The Fabry disease-causing mutation, GLAIVS4+919G>A, originated in Mainland China more than 800 years ago
- Author
-
Liang, Kung-Hao, Lu, Yung-Hsiu, Niu, Chih-Wei, Chang, Sheng-Kai, Chen, Yun-Ru, Cheng, Chih-Ya, Hsu, Ting-Rong, Yang, Chia-Feng, Nakamura, Kimitoshi, and Niu, Dau-Ming
- Abstract
The Fabry disease-causing mutation, the GLAIVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in Taiwan. This X-linked mutation has also been found in patients in Kyushu, Japan and Southeast Asia. To investigate the age and the possible ancestral origin of this mutation, a total of 33 male patients with the GLAIVS4+919G>A mutation, born in Taiwan, Japan, Singapore, Malaysia, Vietnam, and the Fujian and Guangdong provinces of China, were studied. Peripheral bloods were collected, and the Ilumina Infinium CoreExome-24 microarray was used for dense genotyping. A mutation-carrying haplotype was discovered which was shared by all 33 patients. This haplotype does not exist in 15 healthy persons without the mutation. Rather, a wide diversity of haplotypes was found in the vicinity of the mutation site, supporting the existence of a single founder of the GLA IVS4 mutation. The age of the founder mutation was estimated by the lengths of the mutation-carrying haplotypes based on the linkage-disequilibrium decay theory. The first, second, and third quartile of the age estimates are 800.7, 922.6, and 1068.4 years, respectively. We concluded that the GLAIVS4+919G>A mutation originated from a single mutational event that occurred in a Chinese chromosome more than 800 years ago.
- Published
- 2020
- Full Text
- View/download PDF
10. Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease
- Author
-
Lee, Yueh-Hui, Chiou, Hong-Jen, Bau, Da-Tian, Niu, Dau-Ming, Hsu, Ting-Rong, Huang, Hsuan-En, and Shih, Tzu-Ching
- Abstract
Purpose: The aim of this study was to propose the qualitative and quantitative approaches to evaluate the skeletal muscle ultrasound images of 23 Pompe disease (i.e., acid maltase deficiency, AMD) patients and 14 normal subjects. Methods: A cohort of 23 AMD patients and 14 normal subjects has been investigated. We compared the B-mode echo intensity of the rectus femoris muscle with that of its surrounding fat (subcutaneous fat) and proposed a qualitative grading method. Quantitative analysis of the region of interest (ROI) with the echo intensity and the segmented area was also performed. Results: Qualitative results showed that AMD patients without clinical symptoms (without undergoing ERT) had the highest distribution of Grade 1, and AMD patients undergoing ERT had the widest distribution of Grade 2, and control group (n = 14) with the highest distribution of Grade 1. Using the segmented area approach, quantitative results showed that AMD patients undergoing ERT had the largest and widest distribution. Meanwhile the control subjects (normal subjects) had the lowest and the narrowest areas. The echo intensity of the segmented ROI of AMD patients undergoing ERT displayed the highest and widest (inhomogeneous) distributions. By contrast, the echo intensity of AMD patients without clinical symptoms was slightly increased and with low inhomogeneity. Conclusion: The proposed ultrasonography-based qualitative and quantitative approach may be used to evaluate the severity of muscle destruction for AMD patients. Besides, the quantitative segmented area with regression analysis could help predict the incidence of onset of Pompe disease patients.
- Published
- 2020
- Full Text
- View/download PDF
11. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients
- Author
-
Hsu, Ming-Jia, Chang, Fu-Pang, Lu, Yung-Hsiu, Hung, Sheng-Che, Wang, Yu-Chen, Yang, An-Hang, Lee, Han-Jui, Sung, Shih-Hsien, Wang, Yen-Feng, Yu, Wen-Chung, Hsu, Ting-Rong, Huang, Po-Hsun, Chang, Sheng-Kai, Dzhagalov, Ivan, Hsu, Chia-Lin, and Niu, Dau-Ming
- Abstract
Evaluation standards and treatment initiation timing have been debated for a long time, particularly for late-onset Fabry disease (FD), because of its slow progression. However, early initiation of enzyme replacement therapy (ERT) for FD could be effective in stabilizing the disease progression and potentially preventing irreversible organ damage. We aimed to examine globotriaosylceramide (Gb3) deposits in patients’ endomyocardial biopsies to understand the early pathogenesis of FD cardiomyopathy.
- Published
- 2019
- Full Text
- View/download PDF
12. Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
- Author
-
Tsai, Fang-Chih, Lee, Han-Jui, Wang, An-Guor, Hsieh, Shu-Chen, Lu, Yung-Hsiu, Lee, Ming-Che, Pai, Ju-Shan, Chu, Tzu-Hung, Yang, Chia-Feng, Hsu, Ting-Rong, Lai, Chih-Jou, Tsai, Ming-Tzu, Ho, Ping-Hsun, Lin, Min-Chieh, Cheng, Ling-Yee, Chuang, Ya-Chin, and Niu, Dau-Ming
- Subjects
GLUTARIC aciduria ,ACIDOSIS ,CARNITINE ,LYSINE ,BRAIN imaging - Abstract
Background Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest newborn screening population to date. Methods Between 2001 and 2015, 1,490,636 newborns were screened for GA-1. Confirmatory examinations included the carnitine loading test. Confirmed patients were treated with a low lysine diet, carnitine, and high-energy intake during illness. Clinical, laboratory, and neuroimaging data were analyzed. Results Fourteen newborns were diagnosed with GA-1 (incidence: 1/106,474). C5DC concentration was clearly increased after carnitine loading in the affected newborns, but not in false-positive newborns ( p = 0.004), indicating that this test is useful as an adjuvant diagnostic method. Eleven patients followed in our hospital were enrolled, namely nine NBS patients and two patients diagnosed clinically. IVS10-2A>C was the most common mutation. Two novel mutations (T36fs and N291K) were identified. Pendular nystagmus was found in two pediatric GA-1 patients. The corresponding pathology was optic atrophy in one patient, but remained undetermined in the other patient. The frequency of encephalopathic crisis decreased substantially following NBS. Among patients diagnosed by NBS, cognitive functioning was better among patients with good compliance than patients with poor compliance ( p = 0.03). Abnormalities were detected by brain MRI including diffusion-weighted imaging and apparent diffusion coefficient maps; these affected various brain regions at different stages of the disease. Basal ganglion injuries occurred after an encephalopathic crisis. White matter disease was prevalent among older patients, either with or without an encephalopathic crisis. Conclusion Early diagnosis by newborn screening followed by full compliance with treatment guidelines is important to a good outcome. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
13. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry
- Author
-
Lu, Yung-Hsiu, Huang, Po-Hsun, Wang, Li-Yun, Hsu, Ting-Rong, Li, Hsing-Yuan, Lee, Pi-Chang, Hsieh, Yu-Ping, Hung, Sheng-Che, Wang, Yu-Chen, Chang, Sheng-Kai, Lee, Ya-Ting, Ho, Ping-Hsun, Ho, Hui-Chen, and Niu, Dau-Ming
- Abstract
Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team’s aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel. A total of 54,791 female infants were screened and 136 female newborns with the IVS4 + 919G > A mutation and one female newborn with the c.656T > C mutation were identified. Using the current enzyme-based newborn screening approach as baseline, around 83% of female newborns are being missed. Through a family study of the IVS4 female newborns, 30 IVS4 adult family members were found to have left ventricular hypertrophy. Ten patients received endomyocardial biopsy and all were found to have significant globotriaosylceramide (Gb3) accumulation in their cardiomyocytes. All of these individuals now receive enzyme replacement therapy. We have demonstrated that the Agena iPLEX assay is a powerful tool for detecting females with Fabry disease. Furthermore, through this screening, we also have been able to identify many disease-onset adult family members who were originally undiagnosed for Fabry disease. This screening helps them to receive treatment in time before severe and irreversible cardiac damage has occurred.
- Published
- 2018
- Full Text
- View/download PDF
14. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.
- Author
-
Lu, Yung-Hsiu, Cheng, Li-Mei, Huang, Yu-Hsiu, Lo, Ming-Yu, Wu, Tina Jui-Ting, Lin, Hsiang-Yu, Hsu, Ting-Rong, and Niu, Dau-Ming
- Abstract
Summary Background & aims Many studies have reported that serum total homocysteine (tHcy) levels in cystathionine-beta-synthase (CBS) carriers are usually normal and only elevated after a methionine load. However, the amount of methionine required for a loading test is non-physiological and is never reached with regular feeding. Therefore, CBS carriers do not seem to be at an increased risk of cardiovascular diseases. However, the risk of cardiovascular diseases of CBS carriers with folate deficiency has not been studied. We recently found an extraordinarily high carrier rate (1/7.78) of a novel CBS mutation (p.D47E, c.T141A) in an Austronesian Taiwanese Tao tribe who live in a geographic area with folate deficiency. We evaluated if the CBS carriers tend to have higher fasting serum tHcy concentrations than non-carriers in presence of folate deficiency. Methods The serum tHcy and folate levels before and after folate replacement were measured in 48 adult Tao carriers, 40 age-matched Tao non-carriers and 40 age-matched Han Taiwanese controls. Results The serum tHcy level of the Tao CBS carriers (17.9 ± 3.8 μmol/l) was significantly higher than in Tao non-carriers (15.7 ± 3.5 μmol/l; p < 0.008) and Taiwanese controls (11.8 ± 2.9 μmol/l; p < 0.001). Furthermore, a high prevalence of folate deficiency in the Tao compared with the Taiwanese controls (4.9 ± 1.8 ng/ml vs. 10.6 ± 5.5 ng/ml; p < 0.001) was also noted. Of note, the difference in tHcy levels between the carriers and non-carriers was eliminated by folate supplementation. (carriers:13.65 ± 2.13 μmol/l; non-carriers:12.39 ± 3.25 μmol/l, p = 0.321). Conclusions CBS carriers tend to have a higher tHcy level in the presence of folate deficiency than non-carriers. Although many reports have indicated that CBS carriers are not associated with cardiovascular disease, the risk for CBS carriers with folate deficiency has not been well studied. Owing to a significantly elevated level of fasting tHcy without methionine loading, it is important to evaluate the risk of cardiovascular disease in CBS carriers with folate deficiency. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
15. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy
- Author
-
Chen, Kuan-Hsuan, Chien, Yueh, Wang, Kang-Ling, Leu, Hsin-Bang, Hsiao, Chen-Yuan, Lai, Ying-Hsiu, Wang, Chien-Ying, Chang, Yuh-Lih, Lin, Shing-Jong, Niu, Dau-Ming, Chiou, Shih-Hwa, and Yu, Wen-Chung
- Abstract
Fabry disease (FD) causes progressive glycosphingolipid accumulation and damage in various organs, and several proinflammatory processes may be involved in this disease. Enzyme replacement therapy (ERT) can reduce the severity of Fabry cardiomyopathy (FC), but whether ERT could attenuate proinflammatory cytokines in FC remains unclear. In this study, we attempted to evaluate the efficacy of ERT on proinflammatory cytokines and vascular cell adhesion biomarkers.
- Published
- 2016
- Full Text
- View/download PDF
16. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect.
- Author
-
Huang, Cheng-Hung, Chiu, Pao-Chin, Liu, Hao-Chuan, Lu, Yung-Hsiu, Huang, Jun-Kai, Charng, Min-Ji, and Niu, Dau-Ming
- Subjects
STATINS (Cardiovascular agents) ,EZETIMIBE ,CELL receptors ,HYPERCHOLESTEREMIA in children ,LOW density lipoproteins ,GENETIC mutation ,RETROSPECTIVE studies ,FAMILIAL hypercholesterolemia ,THERAPEUTICS - Abstract
Background Clinical observation and treatment of children with homozygous familial hypercholesterolemia (HoFH) has rarely been reported. We report clinical observations and treatment of 10 ethnic Chinese children with HoFH due to low-density lipoprotein receptor (LDLR) defect. Objectives In children with HoFH, we evaluated the response to conventional cholesterol-lowering drug therapy and performed LDLR gene analysis. Methods A retrospective review of lipid profile changes in pediatric patients diagnosed with HoFH seen in our pediatric endocrinology outpatient clinic was performed. HoFH was diagnosed by molecular study of these patients and their parents. Results One novel (c.64del G) and 12 known mutations were found in the LDLR gene. Mutation of p.C308Y was the most common and was found in 26% of the studied alleles.Seven patients had fair responses to conventional drug therapy (high-dose statin with ezetimibe) with a reduction of 50% or more of the total cholesterol levels. The low-density lipoprotein–cholesterol levels of three patients decreased to lower than 160 mg/dL. One who had a good response to conventional drug therapy developed significant atheromatous plaques (largest plaque: 7.4 × 2.7 cm) in the extracranial carotid arteries and myocardial ischemia changes at 11 years old. Conclusion The results suggest that despite aggressive therapy, many patients are not well controlled; atherosclerosis may progress, and novel therapies are required. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
17. Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia.
- Author
-
Su, Pen-Hua, Chen, Jia-Yuh, Chen, Yung-Jung, Niu, Dau-Ming, Hsu, Ju-Hui, and Lee, Inn-Chi
- Subjects
ELECTROENCEPHALOGRAPHY ,TRANSCRANIAL Doppler ultrasonography ,ARGININOSUCCINATE synthetase ,ALLELES ,HYPERAMMONEMIA ,LACTIC acidosis - Abstract
The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma. Laboratory data showed hyperammonemia and marked lactic acidosis in the blood and cerebrospinal fluid; electroencephalography showed severely suppressed cerebral activity and focal paroxysmal volleys of slow and sharp waves (< 1 Hz) over the left hemisphere. Real-time transcranial Doppler ultrasonography showed a brain edema and high peaked systolic and low diastolic flows in basal, anterior, and middle cerebral arteries; however, immediately after a blood exchange transfusion, systolic flows were lower and diastolic flows were higher. The resistance indices were significantly different (means: 0.58 vs. 0.37; p = 0.01). The patient was placed on diet therapy. After six blood exchange transfusions and peritoneal dialysis, her neurologic examination results and serum ammonia and lactate values were normal. The authors found that electroencephalography and transcranial Doppler ultrasonography were useful for the diagnosis and follow-up treatment of neonatal citrullinemia. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF
18. Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane.
- Author
-
Teng, Wei-Nung, Lin, Su-Man, Niu, Dau-Ming, Kuo, Yi-Min, Chan, Kwok-Hon, and Sung, Chun-Sung
- Subjects
DENTAL fillings ,DENTAL anesthesia ,GLUTARIC aciduria ,RARE diseases ,DEHYDROGENASES ,JUVENILE diseases - Abstract
Glutaric aciduria type 1 (GA1) is a rare, inherited mitochondrial disorder that results from deficiency of mitochondrial glutaryl-CoA dehydrogenase. Most patients develop neurological dysfunction early in life, which leads to severe disabilities. We present a 37-month-old girl with GA1 manifested as macrocephaly and hypotonia who received comprehensive dental restoration surgery under general anesthesia with sevoflurane. She was placed on specialized fluid management during a preoperative fasting period and anesthesia was administered without complications. All the physiological parameters, including glucose and lactate blood levels and arterial blood gas were carefully monitored and maintained within normal range perioperatively. Strategies for anesthetic management should include prevention of pulmonary aspiration, dehydration, hyperthermia and catabolic state, adequate analgesia to minimize surgical stress, and avoidance of prolonged neuromuscular blockade. We administered general anesthesia with sevoflurane uneventfully, which was well tolerated by our patient with GA1. Additionally, communication with a pediatric geneticist and surgeons should be undertaken to formulate a comprehensive anesthetic strategy in these patients. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF
19. Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.
- Author
-
Lin, Hsiang-Yu, Huang, Yu-Hsiu, Liao, Hsuan-Chieh, Liu, Hao-Chuan, Hsu, Ting-Rong, Shen, Chia-I, Li, Shao-Tzu, Li, Cheng-Fang, Lee, Li-Hong, Lee, Pi-Chang, Huang, Chun-Kai, Chiang, Chuan-Chi, Lin, Shuan-Pei, and Niu, Dau-Ming
- Subjects
THERAPEUTICS ,ANGIOKERATOMA corporis diffusum ,LYSOSOMAL storage diseases ,X-linked genetic disorders ,ALLERGIES ,TAIWANESE people ,PATIENTS ,DISEASES - Abstract
Abstract: Background: Fabry disease is an X-linked inherited lysosomal storage disease that can be treated with the enzymes of agalsidase beta (Fabrazyme) and agalsidase alfa (Replagal). Since June 2009, viral contamination of Genzyme's production facility has resulted in a worldwide shortage of agalsidase beta, leading to the switch to agalsidase alfa for patients with Fabry disease in Taiwan. Methods: The medical records were retrospectively reviewed for nine male patients with Fabry disease from the start of agalsidase beta treatment until the switch to agalsidase alfa for at least 1 year. Results: After 12–112 months of enzyme replacement therapy (ERT), decreased plasma globotriaosylsphingosine (lyso-Gb3) was found in five out of seven patients, indicating improvement in disease severity. Among the six patients with available echocardiographic data at baseline and after ERT, all six experienced reductions of left ventricular mass index. Renal function, including microalbuminuria and estimated glomerular filtration rate, showed stability after ERT. Mainz Severity Score Index scores revealed that all nine patients remained stable at 12 months after switching to agalsidase alfa. ERT improved or stabilized cardiac status and stabilized renal function, while reducing plasma lyso-Gb3. ERT was well tolerated, even among the three patients who had hypersensitivity reactions. Conclusion: The switch of ERT from agalsidase beta to agalsidase alfa appears to be safe after 1 year of follow-up for Taiwanese patients with Fabry disease. [Copyright &y& Elsevier]
- Published
- 2014
- Full Text
- View/download PDF
20. Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome.
- Author
-
Lin, Hsiang-Yu, Chen, Ming-Ren, Chuang, Chih-Kuang, Huang, Chi-Yu, Niu, Dau-Ming, and Lin, Shuan-Pei
- Subjects
HUMAN body composition ,BIOELECTRIC impedance ,PRADER-Willi syndrome ,SOMATOTROPIN ,BODY mass index ,BODY composition ,COMPARATIVE studies ,RESEARCH methodology ,MEDICAL cooperation ,RESEARCH ,EVALUATION research - Abstract
This study investigated the use of bioelectrical impedance analysis (BIA) as a means of assessing body composition in patients with Prader-Willi syndrome (PWS). Segmental, multifrequency BIA was performed on 30 patients with PWS (16 males and 14 females; mean age: 8.1 ± 3.9 years; age range: 2.9–19.6 years) using eight tactile electrodes. No patient had received growth hormone treatment prior to baseline measurements. Standard deviation scores for height, weight, and body mass index were –0.96 ± 1.29, 2.28 ± 2.66, and 3.14 ± 2.74, respectively. Percentages of body fat, total body water, and soft lean mass were 45.9 ± 10.8%, 36.6 ± 7.3%, and 49.9 ± 9.9%, respectively. Body fat percentage was positively correlated with the body mass index standard deviation score (r = 0.665, p < 0.01). Follow-up BIA was also performed on five patients who received growth hormone therapy (duration of treatment: 1.5–4.6 years). All of these patients showed reductions in their body fat percentages after treatment. BIA confirmed a significantly higher percentage of body fat in patients with PWS compared with normal children. These findings and the follow-up data can be used to develop quality care strategies for patients with PWS. [Copyright &y& Elsevier]
- Published
- 2011
- Full Text
- View/download PDF
21. Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan.
- Author
-
Cheng, Kang-Hsiang, Liu, Mei-Ying, Kao, Chuan-Hong, Chen, Yann-Jang, Hsiao, Kwang-Jen, Liu, Tze-Tze, Lin, Hsiang-Yu, Huang, Cheng-Hung, Chiang, Chuan-Chi, Ho, Huey-Jane, Lin, Shuan-Pei, Lee, Ni-Chung, Hwu, Wuh-Liang, Lin, Ju-Li, Hung, Ping-Yao, and Niu, Dau-Ming
- Subjects
PERINATAL care ,MEDICAL screening ,TANDEM mass spectrometry ,ACETYLCARNITINE ,ASPARTATE aminotransferase ,LIVER function tests ,METABOLIC disorders in children - Abstract
Background: The clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency management is necessary to save lives. It is therefore very important to differentiate affected from unaffected neonates immediately when there are abnormal results regarding MMA in newborn screening. Methods: Between January 2002 and December 2008, 598,522 newborns were screened for MMA by 2 neonatal screening centers: the Chinese Foundation of Health and the Taipei Institute of Pathology. A total of 22 newborns were referred to confirmatory medical centers, and 7 were confirmed as having MMA. The initial propionylcarnitine (C3) level, C3/acetylcarnitine (C2) ratio, plasma ammonia, liver function tests, blood pH and bicarbonate were compared between the true-positive and false-positive groups. Results: The C3/C2 ratio and plasma ammonia were markedly higher in the true-positive MMA group (p < 0.0001). Blood gas pH (p = 0.029), bicarbonate (p = 0.019), and aspartate aminotransferase (p = 0.005) also significantly differed between these 2 groups. Conclusion: Referred newborns with elevated plasma C3/C2 ratios > 0.4 or ammonia levels > 200 mg/dL should be highly suspected of having MMA. [Copyright &y& Elsevier]
- Published
- 2010
- Full Text
- View/download PDF
22. Giant Congenital Melanocytic Nevi in Neonates: Report of Two Cases.
- Author
-
Chien, Jen-Chung, Niu, Dau-Ming, Wang, Mao-Shan, Liu, Ming-Tzen, Lirng, Jiing-Feng, Chen, Shu-Jen, and Hwang, Betau
- Subjects
NEVUS ,MELANOCYTES ,HUMAN abnormalities ,MELANOMA ,MELANOSIS ,EPILEPSY ,MAGNETIC resonance imaging - Abstract
Giant congenital melanocytic nevi are rare, with an estimated incidence of approximately 1 in 20,000 live births. They increase the lifetime risk for malignant melanoma and neurological deficits, including leptomeningeal melanocytosis and epilepsy. Recently, we encountered two patients in whom giant congenital melanocytic nevi were noted at birth. Case 1 presented with the largest nevus spreading across the posterior scalp, neck, chest wall, shoulder and upper back. At the age of 2 months, magnetic resonance imaging (MRI) was performed and no leptomeningeal melanocytosis was found. Case 2 presented with a huge nevus covering most parts of the lower abdomen, lower back, buttocks and bilateral upper thighs. She also had normal MRI findings in the newborn period. At the age of 7 years, leptomeningeal thickening on the surface of the junction between the pons and midbrain was found on brain MRI although she was neurologically asymptomatic. Here, we describe these two cases with congenital melanocytic nevi and review the literature about its clinical manifestations, outcomes, risks for malignant melanoma and neurocutaneous melanosis, and possible surgical interventions. [Copyright &y& Elsevier]
- Published
- 2010
- Full Text
- View/download PDF
23. High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population.
- Author
-
Lin, Hsiang-Yu, Chong, Kah-Wai, Hsu, Ju-Hui, Yu, Hsiao-Chi, Shih, Chun-Che, Huang, Cheng-Hung, Lin, Shing-Jong, Chen, Chen-Huan, Chiang, Chuan-Chi, Ho, Huey-Jane, Lee, Pi-Chang, Kao, Chuan-Hong, Cheng, Kang-Hsiang, Hsueh, Chuen, and Niu, Dau-Ming
- Subjects
DIAGNOSIS ,LYSOSOMAL storage diseases ,INBORN errors of metabolism diagnosis ,GLYCOGEN storage disease type II ,MUCOPOLYSACCHARIDOSIS ,SIALIDOSES - Abstract
The article presents a study on the diagnosis of the cardiac variant of the Fabry disease through newborn screening. Disease incidence were ascertained in the Taiwan Chinese population using the newborn screening program based on the assessment of the enzyme activity. Results show that Fabry mutations among newborns were high, highlighting the importance of early detection to allow therapeutic intervention with enzyme replacement therapy.
- Published
- 2009
- Full Text
- View/download PDF
24. Extreme Hypernatremia Combined With Rhabdomyolysis and Acute Renal Failure.
- Author
-
Yang, Tzu-Ying, Chang, Jei-Wen, Tseng, Min-Hua, Wang, Hsin-Hui, Niu, Dau-Ming, and Yang, Ling-Yu
- Subjects
HYPERNATREMIA ,RHABDOMYOLYSIS ,ACUTE kidney failure ,MUSCLE cells ,ETIOLOGY of diseases ,HYPOVENTILATION ,HYPOTHALAMUS - Abstract
Rhabdomyolysis is a life-threatening condition that involves muscle cell destruction. Among its etiologies, severe hyper-natremia is a less common cause. We report a teenage girl with congenital central hypoventilation syndrome and hypothalamus dysfunction syndrome who presented with extreme hypernatremia (sodium, 211 mmol/L) with rhabdomyolysis (creatine kinase, 32,850 U/L) and acute renal failure (creatinine, 6.1 mg/dL) following gastroenteritis with 7-kg weight loss. Rhabdomyolysis subsequently led to acute renal failure and hyperkalemia. Acute hemodialysis was initiated on hospital day 3 for hyperkalemia. This resulted in a 13 mmol/L fall in serum sodium in 3 hours despite using a 156 mmol/L sodium bath, but without the development of cerebral edema or neurological defect. This report highlights an unusual cause of rhabdomyolysis in children and the experience of managing such a difficult clinical situation. [J Chin Med Assoc 2009;72(10):555–558] [Copyright &y& Elsevier]
- Published
- 2009
- Full Text
- View/download PDF
25. Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia.
- Author
-
Kao, Chuan-Hong, Liu, Mei-Ying, Liu, Tze-Tze, Hsiao, Kwang-Jen, Cheng, Kang-Hsiang, Huang, Cheng-Hung, Lin, Hsiang-Yu, and Niu, Dau-Ming
- Subjects
HORMONE therapy ,SOMATOTROPIN ,NEONATAL diseases ,GENETIC disorders ,MEDICAL care ,MEDICAL screening ,BODY weight ,PATIENTS - Abstract
Background: Information regarding growth hormone (GH) therapy in neonatal patients with methylmalonic acidemia (MMA) is lacking. We present our experience with GH therapy in neonatal patients with MMA. Methods: Four neonatal patients with mut
0 type MMA were identified through newborn screening for elevated propionylcarnitine (C3) levels. GH therapy (0.6 IU/kg/week, subcutaneously) was prescribed for patient 1 after 1 month of admission, and was prescribed for patients 2, 3 and 4 on the 1st day of admission. We evaluated weight, skin erosion, hospital stay, and serum levels of C3 after GH therapy. Results: All of the neonatal patients with MMA displayed obvious weight gain and distinct improvement in skin erosions after GH therapy. The duration of hospital stay for patients 2, 3 and 4 was reduced compared to that of patient 1. However, the metabolic effects of GH therapy on reducing serum levels of C3 seem to be indeterminate. Conclusion: Our clinical findings suggest that GH therapy has potentially beneficial effects on neonatal patients with MMA. [Copyright &y& Elsevier]- Published
- 2009
- Full Text
- View/download PDF
26. Clinical features of osteogenesis imperfecta in Taiwan.
- Author
-
Lin, Hsiang-Yu, Lin, Shuan-Pei, Chuang, Chih-Kuang, Chen, Ming-Ren, Chang, Chia-Ying, and Niu, Dau-Ming
- Subjects
OSTEOGENESIS imperfecta ,GENETIC disorders ,SYMPTOMS ,BONE density ,DENTINOGENESIS imperfecta ,SCOLIOSIS ,RETROSPECTIVE studies ,COMPARATIVE studies ,EYE diseases ,RESEARCH methodology ,MEDICAL cooperation ,RESEARCH ,EVALUATION research - Abstract
Background/purpose: Osteogenesis imperfecta (OI) (MIM 166200, 166210, 259420 and 166220) is a congenital disorder characterized by increased bone fragility and low bone mass. Information regarding the clinical features of this genetic disorder is lacking in Taiwan. This study aimed to characterize the clinical features of OI patients in Taiwan to establish a practical correlation for distinguishing different clinical subtypes of the disorder.Methods: A review of medical records identified 48 patients with OI (33 female and 15 male; age range, 2 months to 53 years) from January 1996 to June 2008. Diagnosis and classification, using the classification system outlined by Sillence et al, were based on clinical and radiological characteristics. We also analyzed the clinical presentation, physical examination and bone mineral density (BMD) among the different subtypes of OI.Results: Retrospective analysis of the medical records revealed that 48 OI patients could be classified into types I (n = 19), III (n = 10), and IV (n = 19). There were statistically significant differences between these three types in terms of height, weight, BMD, dentinogenesis imperfecta, bone deformity, scoliosis, walking ability, annual fracture rate, and family history. However, no significant differences were noted for blue sclera (p = 0.075) and hearing loss (p = 0.832).Conclusion: Nine of the 11 clinical features examined---height, weight, BMD, dentinogenesis imperfecta, bone deformity, scoliosis, walking ability, fracture rate, and family history---were significantly different among the three types of OI patients. This finding may be of help in evaluating patients and establishing their prognosis. [ABSTRACT FROM AUTHOR]- Published
- 2009
- Full Text
- View/download PDF
27. Development of monocyte Toll-like receptor 2 and Toll-like receptor 4 in preterm newborns during the first few months of life
- Author
-
Shen, Chung-Min, Lin, Shih-Chang, Niu, Dau-Ming, and Kou, Yu Ru
- Abstract
Background:Although the immaturity of Toll-like receptor 2 (TLR2) and Toll-like receptor 4 (TLR4) at birth in preterm newborns is known, their development during the first few months of life remains unclear.Methods:Blood monocytes of preterm newborns (gestational age: 24–36?wk) were obtained every 2?wk when possible in order to perform serial measurements of TLR2 and TLR4 surface expression, as well as lipopolysaccharide (LPS)-induced cytokine production. Measurements using monocytes from term newborns and adults were also performed.Results:The monocytes of preterm newborns obtained at birth displayed reduced surface expression of TLR2 and TLR4, and diminished responses of tumor necrosis factor-a (TNF-a) and interleukin (IL)-8 to LPS stimulation. Regardless of gestational age, monocyte expression of TLR2 and TLR4 in preterm newborns increased rapidly within the first 2?wk after birth, quickly reaching those of term newborns. These increases continued for the following 4–6?wk, although the increase began to plateau. By contrast, LPS-induced production of TNF-a and IL-8 did not elevate over this period in preterm newborns.Conclusion:The blood monocytes of preterm newborns display rapid increase in TLR2 and TLR4 expression during the first few months of life, whereas LPS-induced cytokine production functionality did not improve in parallel.
- Published
- 2013
- Full Text
- View/download PDF
28. Epigenetic profiling of the H19differentially methylated region and comprehensive whole genome array‐based analysis in Silver–Russell syndrome
- Author
-
Lin, Shin‐Yu, Lee, Chien‐Nan, Hung, Chia‐Cheng, Tsai, Wen‐Yu, Lin, Shuan‐Pei, Li, Ni‐Chung, Hsieh, Wu‐Shiun, Tung, Yi‐Ching, Niu, Dau‐Ming, Hsu, Wen‐Ming, Chen, Lang‐Yao, Fang, Mei‐Ya, Tu, Mei‐Pin, Kuo, Pei‐Wen, Lin, Chiou‐Ya, Su, Yi‐Ning, and Ho, Hong‐Nerng
- Abstract
Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous congenital disorder characterized by severe growth retardation. Hypomethylation of the differentially methylated region (DMR) of the H19gene and uniparental disomy of maternal chromosome 7 is present in ∼45% of the patients with SRS so more than half of these patients have no known genetic etiology. We combined several molecular technologies including multiplex methylation polymerase chain reaction, methylation‐sensitive multiple ligation probe‐dependent amplification, and methylation‐sensitive high‐resolution melting to assess the epigenetic status of 34 patients with SRS. Additionally, we applied a whole genome strategy to detect copy number changes and loss of heterozygosity. Thirteen patients (38.2%) had hypomethylation of the DMR of the H19gene and none had uniparental disomy of maternal chromosome 7. The whole genome arrays identified five patients (14.7%) with microdeletions on chromosomes 1q23q24.3, 7p15.3, 13q31.3, 14q32.31, and 15q26.2qter, respectively. The overall mutation detection rate was 52.9% by the epigenetic study and the whole genome strategy. Although epimutation may be the major cause of SRS and can be identified by multiplex methylation polymerase chain reaction, the whole genome approach also provides information on the etiology of SRS. If no epimutation is identified in the patients with typical SRS, microdeletions should be suspected. © 2010 Wiley‐Liss, Inc.
- Published
- 2010
- Full Text
- View/download PDF
29. High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population
- Author
-
Lin, Hsiang-Yu, Chong, Kah-Wai, Hsu, Ju-Hui, Yu, Hsiao-Chi, Shih, Chun-Che, Huang, Cheng-Hung, Lin, Shing-Jong, Chen, Chen-Huan, Chiang, Chuan-Chi, Ho, Huey-Jane, Lee, Pi-Chang, Kao, Chuan-Hong, Cheng, Kang-Hsiang, Hsueh, Chuen, and Niu, Dau-Ming
- Abstract
Fabry disease is a treatable lysosomal storage disorder, which is often misdiagnosed or belatedly diagnosed.
- Published
- 2009
- Full Text
- View/download PDF
30. Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004
- Author
-
Lin, Hsiang‐Yu, Lin, Shuan‐Pei, Chuang, Chih‐Kuang, Niu, Dau‐Ming, Chen, Ming‐Ren, Tsai, Fuu‐Jen, Chao, Mei‐Chyn, Chiu, Pao‐Ching, Lin, Shio‐Jean, Tsai, Li‐Ping, Hwu, Wuh‐Liang, and Lin, Ju‐Li
- Abstract
Previous studies on the incidence of the various types of mucopolysaccharidoses (MPS) in different populations have shown considerable variation. However, information regarding the incidence of MPS in the Asian population is lacking. An epidemiological study of the MPS disorders in Taiwan using multiple ascertainment sources was undertaken, and incidences of different types of MPS during the period of 1984–2004 were estimated. We compared our data with previous reports in different populations. The combined birth incidence for all MPS cases was 2.04 per 100,000 live births. MPS II (Hunter syndrome) had the highest calculated birth incidence of 1.07 per 100,000 live births (2.05 per 100,000 male live births), comprising 52% of all MPS cases diagnosed. The birth incidences of MPS I (Hurler syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), and VI (Maroteaux‐Lamy syndrome) were 0.11, 0.39, 0.33, and 0.14 per 100,000 live births, respectively, which accounted for 6%, 19%, 16%, and 7% of all MPS, respectively. No cases of MPS III D (Sanfilippo syndrome type D), MPS IV B (Morquio syndrome type B), MPS VII (Sly syndrome) or MPS IX were ascertained during the study period. Overall incidence of MPS in Taiwan was consistent with that reported in Western populations. However, in contrast to the higher incidence of MPS I in most Western populations, this study showed a higher incidence of MPS II in Taiwan. It remains to be investigated whether this discrepancy is attributed to the under‐diagnosis of MPS I in Taiwan or to ethnic differences. © 2009 Wiley‐Liss, Inc.
- Published
- 2009
- Full Text
- View/download PDF
31. Long-term Follow-up of Taiwanese Chinese Patients Treated Early for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
- Author
-
Liu, Kai-Ming, Liu, Tze-Tze, Lee, Ni-Chung, Cheng, Ling-Yee, Hsiao, Kwang-Jen, and Niu, Dau-Ming
- Abstract
OBJECTIVE To report the long-term results of early initiation of treatment of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. DESIGN Between 1988 and 2000, 12 newborns with PTPS deficiency who underwent early treatment at our hospital were identified. All patients received tetrahydrobiopterin replacement in a daily dosage between approximately 2 and 4 mg/kg. The dosages of levodopa replacement were 10 to 15 mg/kg/d, which is considerably higher than the typically recommended dosages of less than 7 mg/kg/d for patients aged younger than 2 years and 8 to 10 mg/kg/d for patients aged 2 years or older. Replacement with 5-hydroxytryptophan varied widely among patients. SETTING Taipei Veterans General Hospital. PATIENTS Twelve newborns. INTERVENTIONS Treatment with tetrahydrobiopterin, levodopa, and 5-hydroxytryptophan. MAIN OUTCOME MEASURE IQ score. RESULTS The mean (SD) IQ score of our PTPS-deficient patients was 96.7 (9.7; range 86-119), which is considerably higher than previous reports of other populations of PTPS-deficient patients. All patients reached a normal IQ on high daily dosages of levodopa replacement, without developing apparent long-term levodopa-induced adverse effects. We also observed a correlation between long-term IQ score and genotype, birth weight, and age at initiation of treatment. CONCLUSIONS An effective newborn screening referral program and early initiation of appropriate therapy preserved the IQ scores of PTPS-deficient patients.arch neurol. 2008;65(3):387-392--
- Published
- 2008
- Full Text
- View/download PDF
32. Clinical Features of Ehlers-Danlos Syndrome
- Author
-
Yen, Jui-Lung, Lin, Shuan-Pei, Chen, Ming-Ren, and Niu, Dau-Ming
- Published
- 2006
- Full Text
- View/download PDF
33. Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA.
- Author
-
Lin, Hsiang-Yu, Chuang, Chih-Kuang, Ke, Yu-Yuan, Hsu, Chia-Chi, Chiu, Pao Chin, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Lin, Ju-Li, and Lin, Shuan-Pei
- Subjects
TANDEM mass spectrometry ,ENZYMES - Abstract
Highlights from the article: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome; OMIM 253000) is a rare autosomal-recessive inherited disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency which leads to excessive lysosomal storage of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate in various tissues and organs. For two patients who started ERT at a younger age (1.4 and 2.8 years, respectively), z scores for LVMI, IVSd, and LVPWd all decreased after ERT. This is the first report regarding the clinical benefits and safety of long-term ERT in Taiwanese patients with MPS IVA.
- Published
- 2019
- Full Text
- View/download PDF
34. Lenticular Subluxation in a Patient with Homocystinuria Undetected by Neonatal Screening.
- Author
-
Cheng, Kang-Hsiang, Hung, Miao-Chiu, Chen, Shih-Jen, Kao, Chuan-Hong, and Niu, Dau-Ming
- Subjects
METABOLIC disorders ,MEDICAL screening ,AMINO acid analysis ,DIAGNOSIS - Abstract
A case of homocystinuria with lenticular subluxation was misdiagnosed as Marfan syndrome since the patient had no apparent mental impairment and had had a negative neonatal screen for homocystinuria. The delayed diagnosis of homocystinuria was due to a negative prior neonatal screen which was checked when he was a breastfed healthy newborn. In the absence of an autosomal dominant family history, and because of prior poor school performance, amino acid analysis and mutational analysis of the cystathionine b-synthase gene were performed, which revealed the presence of homocystinuria. Low methionine diet with vitamin B6, folic acid, betaine, dipyridamole and aspirin was prescribed for emergency ophthalmologic surgery to prevent thromboembolic events. Fortunately, the operation was completed uneventfully. The patient has been followed-up for 4 years without any significant complaints under diet and medical control. Since homocystinuria is easily missed in neonatal screening programs, it should be suspected in patients who present with lenticular subluxation, even after a negative neonatal screen. [Copyright &y& Elsevier]
- Published
- 2007
- Full Text
- View/download PDF
35. Corneal Lesion as the Initial Manifestation of Tyrosinemia Type II
- Author
-
Tsai, Chun-Pin, Lin, Pei-Yu, Lee, Ni-Chung, Niu, Dau-Ming, Lee, Shui-Mei, and Hsu, Wen-Ming
- Published
- 2006
- Full Text
- View/download PDF
36. Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene
- Author
-
Niu, Dau-Ming, Hsiao, Kwang-Jen, Wang, Nai-Hwei, Chin, Lin-Show, and Chen, C.-H.
- Abstract
Abstract: Achondroplasia is the most common form of dwarfism in humans. A recurrent glycine-to-arginine mutation at codon 380 (G380R) of the transmembrane domain of fibroblast growth factor receptor-3 (FGFR-3) was identified in the majority of Western and Japanese patients, which is uncommon in other autosomal dominant genetic diseases. To determine whether this mutation is also common in Chinese patients, we examined the G380R mutation in Chinese patients with achondroplasia. Of ten patients studied, including eight sporadic cases and one family with two affected members, all have the same G380R mutation with a G-to-A transition. Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations.
- Published
- 1996
- Full Text
- View/download PDF
37. Muscle ultrasound
- Author
-
Hwang, Hsuen-En, Hsu, Ting-Rong, Lee, Yueh-Hui, Wang, Hsin-Kai, Chiou, Hong-Jen, Niu, Dau-Ming, and Couce., María–Luz
- Published
- 2017
- Full Text
- View/download PDF
38. R173W Mutation of Hydroxymethylbilane SynthetaseIs Associated With Acute Intermittent Porphyria Complicated With Rhabdomyolysis
- Author
-
Chen, Mei-Chuan, Chang, Chen-Jung, Lu, Yung-Hsiu, Niu, Dau-Ming, Lou, Horng-Yuan, and Chang, Chun-Chao
- Published
- 2015
- Full Text
- View/download PDF
39. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
- Author
-
Yang, Chia-Feng, Yang, Chen Chang, Liao, Hsuan-Chieh, Huang, Ling-Yi, Chiang, Chuan-Chi, Ho, Hui-Chen, Lai, Chih-Jou, Chu, Tzu-Hung, Yang, Tsui-Feng, Hsu, Ting-Rong, Soong, Wen-Jue, and Niu, Dau-Ming
- Abstract
Objective: To evaluate whether very early treatment in our patients would result in better clinical outcomes and to compare these data with other infantile-onset Pompe disease (IOPD) cohort studies.Methods: In this nationwide program, 669,797 newborns were screened for Pompe disease. We diagnosed IOPD in 14 of these newborns, and all were treated and followed in our hospital.Results: After 2010, the mean age at first enzyme-replacement therapy (ERT) was 11.92 days. Our patients had better biological, physical, and developmental outcomes and lower anti-rh acid α-glucosidase antibodies after 2 years of treatment, even compared with one group that began ERT just 10 days later than our cohort. No patient had a hearing disorder or abnormal vision. The mean age for independent walking was 11.6 ± 1.3 months, the same age as normal children.Conclusions: ERT for patients with IOPD should be initiated as early as possible before irreversible damage occurs. Our results indicate that early identification of patients with IOPD allows for the very early initiation of ERT. Starting ERT even a few days earlier may lead to better patient outcomes. [ABSTRACT FROM AUTHOR]- Published
- 2016
- Full Text
- View/download PDF
40. A 15-Year Perspective of the Fabry Outcome Survey
- Author
-
Giugliani, Roberto, Niu, Dau-Ming, Ramaswami, Uma, West, Michael, Hughes, Derralynn, Kampmann, Christoph, Pintos-Morell, Guillem, Nicholls, Kathleen, Schenk, Jörn-Magnus, and Beck, Michael
- Abstract
The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala). Established in 2001, FOS provides long-term data on agala safety/efficacy and collects data on the natural history of Fabry disease, with the aim of improving clinical management. The FOS publications have helped establish prognostic and severity scores, defined the incidence of specific disease variants and implications for clinical management, described clinical manifestations in special populations, confirmed the high prevalence of cardiac morbidity, and demonstrated correlations between ocular changes and Fabry disease severity. These FOS data represent a rich resource with utility not only for description of natural history/therapeutic effects but also for exploratory hypothesis testing and generation of tools for diagnosis/management, with the potential to improve future patient outcomes.
- Published
- 2016
- Full Text
- View/download PDF
41. Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?
- Author
-
Lee, Ni-Chung, Niu, Dau-Ming, Lin, Ching-Yuang, Hsiao, Kwang-Jen, Yang, An-Hang, and Ng, Yee-Yung
- Published
- 2006
- Full Text
- View/download PDF
42. Rapid enlargement of a residual craniopharyngioma during short-term growth hormone replacement
- Author
-
Niu, Dau-Ming, Guo, Wan-Yuo, Pan, Hung-Chi, and Wong, Tai-Tong
- Abstract
Case report:A patient with residual craniopharyngioma experienced a rapid tumor relapse during growth hormone therapy. Objective:We present this case and remind physicians that it is necessary to reevaluate the safety of growth hormone therapy in patients with residual craniopharyngioma.
- Published
- 2002
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.