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Biomedical subjects

Yuh-Jyh Jong

Publications and source records attributed to Yuh-Jyh Jong.

At least 19 recordsLinked to original sources
PubMed2006

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.

Limb-girdle muscular dystrophy (LGMD) is a group of hereditary muscle diseases with preferential involvement of the shoulder and pelvic girdle muscles, but with no pathognomonic features as in facioscapulohumeral and congenital muscular dystrophies. We report 18-year-old female with progressive shoulder and pelvic muscle weakness. She had marked restrictive pulmonary dysfunction. Echocardiogram showed mild decrease in ejection fraction of 52% (normal: >55%). She was first seen in our hospital at age 2 years with progressive proximal muscle weakness and elevated creatine kinase (CK) level to 15,290 IU/L, with what clinically and pathologically appeared to be steroid-responsive inflammatory myopathy. She responded dramatically to steroid therapy. Progressive proximal muscle weakness began again at age 8 years. Serum CK was 14,910 IU/L. She was wheelchair-bound by age 12. Muscle biopsy showed dystrophic changes without inflammation with reduced immunoreactivity to an antibody against sugar chain (VIA4-1) of alpha-dystroglycan. On laminin overlay assay, there was a nearly complete loss of laminin-binding activity to alpha-dystroglycan. Genetic analysis of fukutin-related protein (FKRP) gene revealed a novel compound heterozygous mutation of c.823C>T (p.R275C) and c.948delC, confirming the diagnosis of LGMD2I, the first reported case in East Asia.

Adolescent↗
PubMed2006

Capillary electrophoresis combining field-amplified sample stacking and electroosmotic flow suppressant for analysis of sulindac and its two metabolites in plasma.

Field-amplified sample stacking with electroosmotic flow (EOF) suppressant in capillary electrophoresis was used to determine the concentration of sulindac (SU) and its two active metabolites, sulindac sulfide (SI) and sulindac sulfone (SO), in human plasma. After acidification, the analytes were extracted from the plasma with dichloromethane. Before sample loading, a water plug (0.5 psi, 3 s) was injected to contain sample anions and to permit field-amplified stacking. Electrokinetic injection at a reversed voltage (-6 kV, 99.9 s) was then used to introduce anions. Separation was performed using phosphate buffer (80 mM, pH 6.0) containing 2,6-di-O-methyl-beta-cyclodextrin (0.75 mM), and poly(ethylene oxide) (0.01%) as an EOF suppressant. The separation was performed at -30 kV and 200 nm. During method validation, calibration plots were linear (r > 0.994) over a range of 0.3-30.0 microM for SU and SO, and 0.5-30.0 microM for SI. During intra- and inter-day analysis, relative standard deviations (RSD) and relative errors (RE) were all less than 16%. The limits of detection were 0.1 microM for SU and SO, and 0.3 microM for SI (S/N = 4, sampling 99.9s at -6 kV). This method was feasible for determining SU and its metabolites in plasma. One female volunteer (27 years, 42 kg) was orally administered one SU tablet (Clinoril, 20 0 mg/tab), and blood samples were drawn at regular intervals over an 8h period. After pretreatment and analysis, the plasma levels of SU, SI and SO were monitored. The pharmacokinetic profile of SU was also investigated.

Adult↗
PubMed2006

The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination.

Human cIAP1 protein is a member of the inhibitor of apoptosis proteins (IAPs) that are involved in apoptosis regulation and an increasing number of other functions, including cell cycle and intracellular signal transduction. In order to identify novel proteins involved in cIAP1 regulation, we performed a yeast two-hybrid screen and identified an F-box protein Fbxo7 as a cIAP1 interacting protein. Co-immunoprecipitation assay showed that cIAP1 can interact with Fbxo7 in human cells. When co-expressed in cells, cIAP1 and Fbxo7 co-localized remarkably both in the cytoplasm and nucleus, and considerable amounts of these often co-localized at one or few distinct Golgi-like structures close to the nucleus. Furthermore, we showed that overexpression of Fbxo7 promotes the ubiquitination of cIAP1. Since F-box proteins are specificity determining subunits of SCF ubiquitin protein ligases, our results suggest that Fbxo7 can mediate the ubiquitination of cIAP1 by SCF ubiquitin protein ligase and thus have important implication in the regulation of cIAP1 function.

Cells, Cultured↗
PubMed2006

Cation-selective exhaustive injection and sweeping MEKC for direct analysis of methamphetamine and its metabolites in urine.

Direct analysis of methamphetamine, amphetamine, and p-hydroxymethamphetamine in urine was achieved by cation-selective exhaustive injection and sweeping micellar EKC. A bare fused-silica capillary (40 cm, 50 microm id) was filled with phosphate buffer (80 mM, pH 3, containing 20% ACN). Then a high-conductivity buffer (100 mM phosphate, pH 3; 6.9 kPa for 2.5 min) was injected. Samples were loaded using electrokinetic injection (10 kV, 600 s) which created long zones of cationic analytes. To enhance sensitivity by sweeping, the stacking step was performed using a phosphate buffer (50 mM, pH 3, containing 20% ACN and 100 mM SDS) at -20 kV before separation by MEKC. This method was capable of detecting the analytes at ppb levels. The calibration plots were linear (r(2) >or= 0.9948) over a range of 100-5000 ng/mL for methamphetamine, and 100-2000 ng/mL for amphetamine and p-hydroxymethamphetamine. The LODs (S/N = 3) were 20 ng/mL for methamphetamine, and 15 ng/mL for amphetamine and p-hydroxymethamphetamine. The method was applied to analysis of 14 urine samples of addicts and is suitable for screening suspected samples for forensic purposes. The results showed good agreement with fluorescence polarization immunoassay and GC-MS.

Amphetamine↗
PubMed2006

Diphyllobothriasis latum: the first child case report in Taiwan.

Diphyllobothriasis latum is an intestinal parasitosis caused by the ingestion of mostly raw fresh-water fish containing plerocercoids of Diphyllobothrium latum. We report an 8-year-old boy who came to our hospital with the complaint of a tapeworm hanging from the anus after defecation. The other symptom was mild abdominal cramping for a period of 1 year. The laboratory examination did not reveal anemia or vitamin B12 deficiency. Examination of gravid proglottids with rosette-like central uterus and typically operculated eggs of D. latum confirmed the diagnosis. The morphologic characters of proglottids and eggs size are compatible with D. latum. The patient had a history of eating uncooked fish for 1 year. Salmonids may be the infection source. He was treated with two doses of praziquantel and passed about 183 cm in length of all proglottids. There is a high prevalence of diphyllobothriasis latum in the northern temperate areas, but it is very rare in children. This patient is the first child case reported in Taiwan.

Animals↗
PubMed2006

Effects of leukotriene receptor antagonists on monocyte chemotaxis, p38 and cytoplasmic calcium.

Montelukast and zafirlukast, two cysteinyl leukotriene receptor antagonists (LTRAs), have been shown to have a beneficial effect on the clinical symptoms of asthma. LTRAs can inhibit eosinophil recruitment; however, little is known about their role in monocyte migration. We investigated whether montelukast and zafirlukast could suppress chemokine-induced chemotaxis of monocytes and signaling. Chemotaxis of monocytes from peripheral blood mononuclear cells (PBMCs), cord blood mononuclear cells (CBMCs), and THP-1 cells was evaluated using a 24-well transwell microchamber. [Ca2+]i was measured with the fluorescence calcium indicator fura-2/AM photometry system. p38 MAPK expression was measured by Western blotting. Results showed that montelukast (1-100 microm) and zafirlukast (100 microm) significantly down-regulated monocyte chemoattractant protein-1(MCP-1)-induced chemotaxis of THP-1 cells and human primary monocytes from PBMCs and CBMCs (p<0.05, each comparison). Montelukast also abolished MCP-1-induced [Ca2+]i and pp38 MAPK expression in THP-1 cells in a dose-dependent manner. These data demonstrate that montelukast is effective in down-regulating human monocyte chemotaxis induced by MCP-1. This effect may involve the down-regulation of MCP-1-induced [Ca2+]i and p38 MAPK expression.

Acetates↗
PubMed2006

[A stress model for parents of children with duchenne muscular dystrophy].

This study explored the problems encountered by parents in caring for children with Duchenne muscular dystrophy (DMD). Open questionnaires (N=21) designed to identify and gauge stress factors were used to collect study data. Results showed that key elements of the care stress model in parents of DMD children prior to joining a support group included: (1) recognition of the factors underlying the changes in their child's health condition (incomprehension, inference, rationalization, and acceptance of mutation and sexual heredity); (2) special assistance needs such as barrier-free facilities, government/social assistance (role substitution, coordination, and long-term care) and medical information (on treating disease causes, psychological adjustment, rehabilitation, and the welfare system); and (3) strains (physical, psychological, sleep disturbances, and feelings of powerlessness). Once families of DMD children began participating in DMD support groups, it is important to note the information exchanged, particularly with regard to medical, rehabilitation, psychological adjustment, role substitution, and welfare benefit information.

Adult↗
PubMed2005

Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene.

One of the most commonly used techniques for genotyping of single-nucleotide polymorphism (SNP) is detection of single-base extensions (SBEs). We present a new, rapid, simple, and highly reliable method for accurate quantification of SNP variants in a single reaction. Our approach is based on SBE detection coupled with high-performance liquid chromatography (HPLC) quantification. To demonstrate the utility of our approach, we report data to determine the gene dosage for relative amounts of alleles in a homologous gene, allowing detection of mutation causing exon skipping in human SMN genes to determine the ratio between the copy numbers of the SMN1/SMN2 gene. We successfully determined the relative ratio of the SMN1 and SMN2 genes and showed assay characteristics using the SBE reaction coupled with HPLC. This assay approach readily scaled to high parallelization with multiplex SBE reactions in a single sample screened in one analysis. By screening for particular SNP genotypes, this assay can be used to determine the relative gene dosage that correlates highly with the patient's disease state. The next challenge is to apply this novel methodology in a clinical screening and quantification setting for special gene regions within highly homologous genes.

Base Sequence↗
PubMed2005

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

If carrier women could be identified in time and take appropriate measures, fragile X syndrome (FXS) can be prevented. Wide screening of women to be or in their early pregnancy was considered a good approach to identify carriers without misdetection. Nevertheless, we argued against the cost-effectiveness of implementing such a screening program in Taiwan, due to the lower carrier rate found in our pilot study. To reliably estimate the prevalence of mutant FMR1 gene in Taiwan, we anonymously screened 10,046 newborn boys using bloodspot polymerase chain reaction (PCR). Among them, the sample from one boy, who was most likely had FXS, failed repeatedly in PCR amplification. The estimated prevalence of premutation (55-200 CGG repeats) and intermediate alleles (45-54 CGG repeats) was 1:1,674 (n = 6) and 1:143 (n = 70), respectively. All these estimates were constantly lower than that reported in Caucasian populations, with variable statistic significance. Furthermore, when comparing analyses of the distribution of alleles at the two most often investigated microsatellite loci, DXS548 and FRAXAC1, between 100 control and 28 unrelated fragile X chromosomes, we found no apparent founder haplotype prevalent among the fragile X patients. Because a few founder haplotypes were reportedly prevalent in two thirds of fragile X alleles in Caucasians and in Chinese from Central China, we thus suggested that lack of founder fragile X chromosomes might result in a relatively low prevalence of mutant FMR1 gene in a population, as observed in Taiwan.

Alleles↗
PubMed2005

Developing a family function questionnaire for families with developmentally delayed children.

The purpose of this study was to develop a "Family Function Questionnaire for Families with Developmentally Delayed Children". The questionnaire was created by sampling 300 parents with developmentally delayed children. Initially, families and early intervention services were observed and a qualitative interview with the child's family was conducted. The researchers created a family function database reflecting these steps and by referral to relevant literature. The final version of the questionnaire consisted of 42 items in 11 categories: cohesion, education, problem solving, affective involvement, independence, action participation, family support, recreation, rules implementation, collaboration, and financial management. The questionnaire had a Cronbach's alpha of 0.9326.

Child↗
PubMed2004

Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway.

Homozygous deletion or mutation in the survival motor neuron (SMN)1 gene causes proximal spinal muscular atrophy (SMA), whereas SMN2 acts as a modifying gene that can influence the severity of SMA. It has been suggested that restoration of the SMN protein level in neuronal cells may prevent cell loss and may be helpful for treatment of SMA. Recent studies indicate that the ubiquitin/proteasome pathway is a major system for proteolysis of intracellular proteins. In this study, we investigate whether SMN protein is degraded via the ubiquitin/proteasome pathway. Primary fibroblasts were established from the skin biopsies of SMA patients and the effect of a proteasome inhibitor MG132 and lysosome inhibitor NH(4)Cl on SMN protein level was examined. We found that MG132, but not NH(4)Cl, significantly increased the amount and nuclear accumulation of SMN protein in SMA patient's fibroblasts. Immunoprecipitation/western blot analysis indicated that SMN protein was ubiquitinated in cells. In vitro protein ubiquitination assay also demonstrated that SMN protein could be conjugated with ubiquitin. Taken together, we have provided clear evidences that degradation of SMN protein is mediated via the ubiquitin/proteasome pathway and suggest that proteasome inhibitors may up-regulate SMN protein level and may be useful for the treatment of SMA.

Cell Survival↗
PubMed2004

Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis.

A 22-year-old woman had suffered from several episodes of acute pancreatitis since the age of 11. Other than exercise intolerance since early childhood, her psychomotor development was normal. At age 21, she experienced two episodes of generalized muscle weakness including acute respiratory failure and hepatomegaly. Liver biopsy indicated fatty metamorphosis, and muscle biopsy revealed vacuolar myopathy with lipid accumulation. Biochemical investigations demonstrated elevated serum creatine kinase and elevated 2-hydroxylglutaric, pyruvic, ethylmalonic, hippuric, adipic, and seburic acids in urinary organic acid analysis. These findings confirmed the diagnosis of glutaric aciduria type II. Although acute pancreatitis in glutaric aciduria type II has been reported previously, this is the first reported case of recurrent pancreatitis occurring in glutaric aciduria type II. We treated the patient with l-carnitine and riboflavin. As of the latest follow-up 2.5 years later, the patient has had no further episodes of muscle weakness or pancreatitis. We suggested analyzing urine organic acid when lipid storage myopathy is suspected.

Acyl-CoA Dehydrogenase↗
PubMed2004

Comparative study of early childhood high-function autism and developmental mixed receptive-expressive language disorder.

Verbal cognitive profile and general social functioning were compared between two groups of children aged 5 to 7 years, one with high-function autism and the other with developmental mixed receptive-expressive language disorders. The two groups, totaling 50 children, were matched for age and non-verbal IQ (mean, 90). Both groups had impaired verbal cognitive profile and social adaptive functioning, with no statistically significant differences between the two groups. The implications of our findings are discussed. Current preschool and early childhood medical-educational intervention programs in Taiwan must design and implement curricula in which children with language delay, whether autistic or/not, can develop essential social skills.

Autistic Disorder↗
PubMed2004

Respiratory adenoviral infections in children: a study of hospitalized cases in southern Taiwan in 2001--2002.

Adenoviruses account for 5-10 per cent of respiratory illnesses in children. To analyse the clinical features and the temporal frequency in acute adenoviral respiratory infections in hospitalized children in southern Taiwan, a total of 4333 children who were admitted to the Department of Pediatrics, Kaohsiung Municipal Hsiaokang (KMHK) Hospital, with clinical evidences of acute respiratory infections between January 2001 and December 2002 were studied. Adenoviruses were isolated from 317 patients with an isolation rate of 7.67 per cent. Serotype analysis was performed by polymerase chain reaction (PCR) and/or PCR-restriction fragment length polymorphism (PCR-RFLP) in 186 specimens. In 2001, adenovirus type 4 was found in the majority (57 per cent), followed by type 1.5.6 (15 per cent), type 2 (13 per cent), type 14 (8 per cent), type 3 (5 per cent), and type 7 (2 per cent). In 2002, type 3 became the major type (46 per cent), whereas the previously predominant type 4 decreased to 6 per cent, and type 7 increased from 2 to 19 per cent. The symptoms and signs included fever (98.7 percent), cough (77.6 per cent), abnormal breathing sounds (crackles and/or wheezing 23.3 per cent), abdominal pain (18.9 per cent), vomiting (21.8 per cent), and diarrhea (25.2 per cent). The mean duration of fever was 4.8 days (range 0-19 days). In the 186 cases in whom serotypes were analysed, pharyngitis and tonsillitis (47.8 per cent) were the most common presentation, followed by pneumonia (25.2 per cent), bronchitis (12.9 per cent), and pharyngoconjunctival fever (PCF) (7.6 per cent). Children between 4 and 8 years old were the most common group of patients with respiratory adenoviral infections. Our patients all had good prognosis. This adenoviruses molecular epidemiological study provides information that helps physicians in clinical differential diagnosis and treatment of respiratory adenoviral infection in children in southern Taiwan.

Acute Disease↗
PubMed2004

Gender differences in a clinic-referred sample of Taiwanese attention-deficit/hyperactivity disorder children.

The purpose of this study was to examine gender differences within a clinic-referred sample of 6-11-year-old Taiwanese children with attention-deficit/hyperactivity disorder (ADHD)- combined subtype. The subjects were 21 girls with a diagnosis of ADHD from the 4th edition of the Diagnostic and Statistical Manual and 21 age-matched boys with ADHD. Comparisons were made of behavioral ratings, cognitive profiles, and vigilance/attention assessments between these two groups. The results found ADHD girls and ADHD boys to be statistically indistinguishable on nearly all measures except the subtests of block design (P = 0.016), the discrepancy between Performance Intelligence Quotient and Verbal Intelligence Quotient (P = 0.019), and the discrepancy between fluid and crystallized IQ (P = 0.041). In the study samples, ADHD girls and ADHD boys were strikingly similar on a wide range of measures. ADHD boys and girls in clinics may be expected to show more similarities than differences in treatment needs. However, these results should be interpreted with caution since data were only from clinic-referred samples.

Arousal↗