Abstract Previous studies on the incidence of various types mucopolysaccharidoses (MPS) in different populations have shown considerable variation. However, information regarding MPS Asian population is lacking. An epidemiological study disorders Taiwan using multiple ascertainment sources was undertaken, and incidences during period 1984–2004 were estimated. We compared our data with previous reports populations. The combined birth for all cases 2.04 per 100,000 live births. II (Hunter...

Background On April-May, 2011, two Taiwan chemical companies were found to have intentionally added phthalates, Di-(2-ethylhexyl) phthalate (DEHP) and/or Di-isononyl phthalate, as a substitute of emulsifier many foodstuffs. This study aimed investigate whether exposure these foods altered endocrine functions in children aged ≤10 years and, if so, those changes could be reversed by stopping exposure. Methods One Phthalates Clinic for Children was established southern between May 31 and June...

If carrier women could be identified in time and take appropriate measures, fragile X syndrome (FXS) can prevented. Wide screening of to or their early pregnancy was considered a good approach identify carriers without misdetection. Nevertheless, we argued against the cost-effectiveness implementing such program Taiwan, due lower rate found our pilot study. To reliably estimate prevalence mutant FMR1 gene anonymously screened 10,046 newborn boys using bloodspot polymerase chain reaction...

Attention-deficit-hyperactivity disorder (ADHD) is the most common neuropsychiatric of childhood. The purpose present study was to assess health-related quality life (HRQL) in methylphenidate-treated school-age children with ADHD as compared healthy a Taiwanese population.Subjects were 6-15 years age who currently receiving methylphenidate treatment (total n=119). Subjects 129 recruited from community. Child Health Questionnaire Parent Form-50 (CHQ-PF-50), functional health status measure...

A major incident involving phthalates-contaminated foodstuffs occurred in Taiwan May 2011, leading to the quick removal of tainted food items from store shelves. We investigated changes urinary oxidative di(2-ethylhexyl)phthalate (DEHP) metabolites, our proxy for exposure DEHP-tainted children ≤10 years, during six months following withdrawal food. Our hospital screened 60 possibly exposed between and June 2011. The children's intake information was collected, they were administered one-spot...

Background: Fatty acid oxidation (FAO) disorders are a heterogeneous group of inborn errors in the transportation and fatty acids. FAO were thought to be very rare Chinese population. Newborn screening for beginning 2002 Taiwan may have increased diagnosis this diseases. Materials Methods: Till 2012, National University Hospital Screening Center screened more than 800,000 newborns disorders. Both patients diagnosed through detected after clinical manifestations included study. Results: A...

Mucopolysaccharidoses (MPSs) are a group of inherited metabolic diseases, which characterized by the accumulation glycosaminoglycans, and eventually lead to progressive damage various tissues organs.An epidemiological study MPS in Taiwan was performed using multiple sources. The survival diagnostic age for different types between 1985 2019 were evaluated.Between 2019, there 175 patients diagnosed with disorders Taiwanese population, median 3.9 years. There 21 (12%), 78 (45%), 33 (19%), 32...

Asthma causes a substantial morbidity and mortality burden in children the pathogenesis of childhood asthma is not completely understood. Macrophages are heterogeneous with divergent M1/M2 polarization phenotypes response to various stimulations during inflammatory process. We aimed investigate pattern macrophage its association severity exacerbation asthmatic children.Normal aged 4-18 years were enrolled for 12 months. Children further subgrouped according their requirement hospitalization...

Abstract Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader–Willi syndrome (PWS). Methods: We performed a retrospective analysis 67 cases molecularly confirmed PWS diagnosed from January 1980 through July 2006 five medical centres Taiwan. Clinical manifestations were compared between patients with deletion and those maternal uniparental disomy (UPD). Results: Deletion was present 56 (84%), UPD 10 (15%), probable imprinting...

Retinoblastoma is caused by compound heterozygosity or homozygosity of retinoblastoma gene (RB1) mutations. In germline retinoblastoma, mutations in the RB1 predispose individuals to increased cancer risks during development. These segregate as autosomal dominant traits with high penetrance (90%).We screened 30 family members from one using resolution melting assay and DNA direct sequencing for gene. We evaluate phenotype a large Taiwanese family.The molecular analysis clinical details this...

Abstract Trimethyamine (TMA) and trimethylamine N ‐oxide (TMAO) are the most important urine parameters for diagnosing monitoring trimethylaminuria. A rapid, simple, specific method based on matrix‐assisted laser desorption/ionization time‐of‐flight mass spectrometry (MALDI‐TOFMS) was developed to determine presence of TMA TMAO in samples from patients with Formation quaternary tetramethylamino iodide by derivatization methyl allows measurement MALDI‐TOFMS. The is repeatable reproducible,...

We studied the expanded CAG repeat and adjacent CCG in 53 Huntington's disease (HD) patients 172 unrelated normal subjects matched to for ethnic origin. The range of varied from 38 109 HD 10 29 control group. A significant negative correlation was found between age at onset expansion, with no influence on by multiple regression analysis. Allelic association using 2 flanking dinucleotide markers within 150 kb gene revealed linkage disequilibrium 3 markers. Haplotype analysis 24 families these...

The t(1;22)(p13;q13) is a nonrandom chromosomal abnormality in acute leukemia with the fusion oncogene, RBM15-MKL1 (OTT-MAL), identified recently. However, this has been described only infants and young children megakaryoblastic (AMKL). We report 59-year-old male patient diagnosis of myeloid leukemia, subtype M1, who harbors an abnormal chromosome +der(1)t(1;22)(p13;q13). (OTT-MAL) transcript was also confirmed by reverse transcriptase–polymerase chain reaction. This unusual rare adult cases...

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that characterized by near-complete absence of adipose tissue from birth or early infancy. Mutations in the BSCL2 gene are known to result CGL2, more severe phenotype than CGL1, with earlier onset, extensive fat loss and biochemical changes, intellectual impairment, cardiomyopathy. We report 3-month-old Taiwanese boy initial presentation lack subcutaneous fat, prominent musculature, eruptive xanthomas, extreme...

Abstract Background: Central precocious puberty (CPP), predominant in girls, is defined by early development of secondary sexual characteristics driven the secretion hypothalamic gonadotropin releasing hormone (GnRH) and subsequent gonadotropin. Recent studies have shown variation Methods: This study attempted to investigate relation between single-nucleotide polymorphisms (SNPs) Results: We found genotype frequencies rs314276 rs221634 were significantly correlated with girls CPP; while C...

Abstract Background: Prader–Willi syndrome (PWS) is a congenital disorder caused by absent expression of paternal genes in 15q11‐13 affecting multiple systems. The information concerning the clinical features this genetic incomplete Taiwan. Methods: A retrospective analysis was carried out 70 PWS patients (39 male, 31 females; age range, 1 month–22 years) seen four major medical centers Taiwan from January 1980 through June 2005. All cases were confirmed methylation‐specific polymerase chain...

Background: Information regarding the efficacy of growth hormone (GH) therapy in Asian Prader-Willi syndrome (PWS) patients is lacking. We report our experience with GH treatment children PWS Taiwan. Methods: Forty-six (27 males, 19 females; age range, 1 year 4 months to 13 years 7 months) who received and/or are currently receiving (0.1 IU/kg/day subcutaneously) for a period from 3 were retro-spectively analyzed. evaluated height, weight, body mass index (BMI) and Rohrer index, before after...

An inactivating mutation in the GNAS gene causes either pseudohypoparathyroidism 1a (PHP1A) when it is maternally inherited or pseudopseudohypoparathyroidism (PPHP) paternally inherited. We investigated clinical manifestations and mutations of ethnic Chinese patients with PHP1A PPHP. Seven from 5 families including 4 girls 2 boys 1 girl PPHP were studied. All had mental retardation. They treated calcitriol CaCO3 regular monitoring serum Ca levels, urinary Ca/Cr ratios, renal sonography....

Intrathoracic tumor is a rare entity in the pediatric population and neurogenic tumors account for 40‐50% of childhood intrathoracic tumors. They can cause severe symptoms, such as respiratory distress, neurological dysfunction metabolic disturbances. Posterior mediastinal ganglioneuroma (GN) usually occurs children be found accidentally. Precise preoperative diagnosis very difficult has great influence on surgical intervention. Here, we report 6‐year‐old girl with posterior GN that was...