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The present study attempts to establish a framework for computing customer lifetime values for a company in the auto repair and maintenance industry. The customer lifetime value defined in this study consists of the current and future values of a customer, which involve an estimation of lifetime length, future purchasing behavior and the profit associated with each behavior of the customer. The proposed framework contains three groups of techniques to obtain these estimates from historical customer transactions. The first group includes a logistic regression model and a decision tree model to estimate the churn probability of a customer and to, further, predict the lifetime length of the customer. The second group comprises a regression analysis to identify the critical variables that affect a customer’s purchasing behavior, and a Markov chain to model the transition probabilities of behavior change. Finally, the third group contains two neural networks to predict the profits contributed by a customer under various purchasing behaviors. The proposed framework is demonstrated with the historical customer transactions of an auto repair and maintenance company in Taiwan. [ABSTRACT FROM AUTHOR]

Objective:Adipocytokine genes encoding adiponectin (ADIPOQ) and the leptin receptor (LEPR) affect glucose and fatty acid metabolism. The purpose of this study was to examine the association between early-onset type 2 diabetes mellitus (T2DM) and variability within these two genes in the Han Chinese population of Taiwan.Subjects:A cross-sectional study of 999 patients from the Han Chinese population of Taiwan with early-onset T2DM (n=264; age at diagnosis, 20 to <45 years) and late-onset T2DM (n=735; age at diagnosis, 45 years) was performed. Blood samples from T2DM patients were taken for DNA extraction, and levels of serological markers were measured at enrollment. Seven single-nucleotide polymorphisms (SNPs) were selected for genotyping (three SNPs in AIDPOQ and four SNPs in LEPR) by polymerase chain reaction in each patient.Results:Polymorphisms at the position rs10937273 in ADIPOQ and at the positions rs1892534 and rs2211651 in LEPR were statistically associated with early-onset T2DM (P=0.0246, 0.0014 and 0.0012, respectively). C-reactive protein levels were significantly different among the early-onset T2DM patients with different genotypes at the SNPs rs1892534 and rs2211651 in LEPR (P=0.003 and P=0.004, respectively). In addition, fasting glucose levels were also significantly different among different genotypes at the SNP rs1892534 in LEPR (P=0.038).Conclusion:We conclude that the polymorphisms in the adipocytokine genes ADIPOQ and LEPR are significantly associated with the age at diagnosis of T2DM in the Han Chinese population of Taiwan. [ABSTRACT FROM AUTHOR]

Calcineurin is a calcium/calmodulin-dependent protein phosphatase composed of two subunits, a regulatory subunit of calcineurin B (CNB) and a catalytic subunit of calcineurin A (CNA). PPP3CC is the γ isoform of CNA located at the chromosome 8p21.3 region. To evaluate the association between PPP3CC and schizophrenia in the Taiwanese population, 10 single nucleotide polymorphism (SNP) markers across the gene were genotyped by the method of MALDI-TOF in 218 schizophrenia families with at least two affected siblings. One SNP (rs2272080) located around the exon 1 untranslated region was nominally associated with schizophrenia (P=0.024) and significantly associated with the expression of PPP3CC in lymphoblast cell line; the TT and TG genotype had significantly higher relative expression levels than the GG genotype (P=0.0012 and 0.015, respectively). In further endophenotype stratification, the single locus of rs2272080 and the haplotypes of both two-SNP haplotype (rs7833266–rs2272080) and seven-SNP haplotype (rs2461491–rs2469758–rs2461489–rs2469770–rs2449340–rs1482337–rs2252471) showed significant associations with the subgroup of schizophrenia with deficits of the sustained attention as tested by the continuous performance test (CPT, P<0.05) and the executive functioning as tested by the Wisconsin Card Sorting Test (WCST, P<0.05). The results suggest that PPP3CC gene may be a true susceptibility gene for schizophrenia.Molecular Psychiatry (2007) 12, 966–974; doi:10.1038/sj.mp.4001977; published online 6 March 2007 [ABSTRACT FROM AUTHOR]

Miniature pig (Sus Scrofa) becomes as an important ocular animal model for the ophthalmology research due to the anatomic and physiologic similarities to human. Lee Sung pig is a miniature pig breed originated in Taiwan. However, absent of ocular structure leads difficult be appiled in occular research. In present study, Magnetic Resonance Imaging (MRI) was applied for the ocular structure assessment of different developmental stages of Lee Sung pig. The detailed description of the structure and size of the different developmental stage oculars structure will be of great help to future ophthalmology application of Lee Sung pig. [ABSTRACT FROM AUTHOR]

Objective: Kawasaki disease (KD) is a pediatric systemic vasculitis of unknown cause for which a genetic influence is supposed. The purpose of this study was to identify possible genetic variants in the major histocompatibility complex (MHC) region that are associated with KD and the development of coronary artery aneurysms (CAAs) in a Taiwanese population., Methods: The 168 genetic variants covering the MHC locus were analyzed in an association study of a Taiwanese cohort of 93 KD patients and 680 unrelated healthy children matched for sex and age with the study patients., Results: Eleven single-nucleotide polymorphisms (SNPs) were associated with the occurrence of KD. The SNP located at the 3'-untranslated region of HLA-E (rs2844724) was highly associated (P < 1 x 10(-7)). In addition, the frequency of the C allele was higher in KD patients without CAAs than in controls (P < 0.001) due to a significantly increased frequency of the CC and CT genotypes. Plasma levels of soluble HLA-E were significantly higher in KD patients than in controls regardless of the presence of CAAs. Furthermore, there was a trend toward higher plasma levels of soluble HLA-E in KD patients with the CT and TT genotypes of the HLA-E gene polymorphism., Conclusion: Our results suggest that the HLA-E gene polymorphism may play a role in the pathogenesis of KD.

Background: The causes of neonatal transient hypothyroidism (NTH) remain incompletely understood. Whether it is influenced by genetic background is rarely discussed and remains unproven. A defect in thyroid peroxidase is a common cause of dyshormonogenesis of the thyroid gland in Taiwanese, with a novel mutation (2268insT) present in nearly 90% of alleles studied., Objective: To determine if the presence of this common mutation is associated with NTH in Taiwan., Methods: A mismatched primer was designed and used for this specific 2268insT mutation to screen 1000 normal babies and 260 babies with confirmed NTH., Results: The carrier rate for 2268insT in normal babies (1/200) was significantly lower than in babies with NTH (1/13; p<0.0001)., Conclusions: The results strongly suggest that the presence of this thyroid peroxidase mutation contributes to the development of NTH. Likely pathogenetic explanations include the effect of the stress of extrauterine adaptation during labour on an immature pituitary-thyroid axis in genetically predisposed individuals, combined with environmental triggers such as iodine deficiency, perinatal iodine exposure, and/or goitrogen contamination.

Current body mass index (BMI) norms for children and adolescents are developed from a reference population that includes obese and slim subjects. The validity of these norms is influenced by the observed secular increase in body weight and BMI. We hypothesized that the performance of children in health-related physical fitness tests would be negatively related to increased BMIs, and therefore fitness tests might be used as criteria for developing a more appropriate set of BMI norms. We evaluated the existing data from a nation-wide fitness survey for students in Taiwan (444 652 boys and 433 555 girls) to examine the relationship between BMI and fitness tests. The fitness tests used included: an 800/1600-m run/walk; a standing long jump; bent-leg curl-ups; and a sit-and-reach test. The BMI percentiles developed from the subgroup whose test scores were better than the 'poor' quartile in all four tests were compared with those of the whole population and linked to the adult criteria for overweight and obesity. The BMIs were significantly related to the results of fitness testing. A total of 43% of students had scores better than the poorest quartile in all of their tests. The upper BMI percentile curves of this fitter subgroup were lower than those of the total population. The 85th and 95th BMI percentile values of the fitter 18-year-old-students (23.7 and 25.5 kg m(-2) for boys; 22.6 and 24.6 kg m(-2) for girls) linked well with the adult cut-off points of 23 and 25 kg m(-2), which have been recommended as the Asian criteria for adult overweight and obesity. Hence, the BMI norms for children and adolescents could be created from selected subgroups that have better physical fitness. We expect that the new norms based on this approach will be used not only to assess the current status of obesity or overweight, but also to encourage activity and exercise.

The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.

The purpose of this study was to evaluate whether vitamin D receptor (VDR) genes BsmI polymorphisms were markers for susceptibility to or severity of systemic lupus erythematosus (SLE) in Chinese patients in Taiwan. The study included 47 Chinese patients with SLE. In addition, 90 unrelated, healthy individuals living in central Taiwan served as control subjects. Each polymorphism was detected as a result of polymerase chain reaction (PCR)-based restriction analysis. A PCR product length was determined to be 580bp (BB) whereas two fragments of 405 and 175bp were determined to be excisable lengths (bb) by BsmI endonuclease. The relationship between Bsm polymorphisms and clinical manifestations of SLE was evaluated. We found that BB was significantly more common and bb less common in SLE than in control group (chi2 = 54.2, P < 0.0001). In addition, the frequency of B allele was also significantly more common in patients with SLE than in the healthy control subjects (chi2 = 38.7, P < 0.0001), giving an odds ratio of 7.14 (95% confidence interval 3.53-14.4). In the SLE patients, we did not detect any associations of VDR genotype with the clinical, laboratory profiles, or lupus nephritis (chi2 = 2.34, P = 0.3). This study indicated an increased distribution of VDR BB genotype and B allelic frequencies in the Chinese SLE patients in Taiwan. However, there were no associations between the frequency of VDR allelic variations and clinical manifestations, laboratory profiles, or lupus nephritis.

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulphatase (arylsulfatase B, ASB). We report the clinical investigation and mutation analysis of two Taiwanese patients with severe (Case 1) and intermediate (Case 2) phenotypes of MPS VI. Three missense mutations and one polymorphism were identified. Case 1 was found to have a novel heteroallelic C-to-G transversion at nucleotide 1197 causing a phenylalanine to leucine substitution at residue 399 (Phe399Leu), and a heteroallelic Gln239Arg mutation. In Case 2, a heterozygous Cys192Arg mutation and a Val358Met polymorphism were identified. Among these three mutations, the Gln239Arg and Phe399Leu substitutions have so far been observed only in the Taiwanese population. The correlation between genotype and phenotype contributes to molecular pre- and post-natal diagnosis for MPS VI patients.

Four new polyoxygenated briarane-type diterpenoids, briaexcavatolides O-R (1-4), have been isolated from a gorgonian octocoral Briareum excavatum. Their structures were determined using spectroscopic and chemical methods. Metabolites 1-3 were found to contain oxygenated substituents at C-2, C-3, and C-4, and the relative configurations were assigned as 2R*,3R*,4R* at these three positions. Briaranes containing this type of stereochemistry are reported for the first time. The structures of metabolites 1 and 2 were further confirmed by single-crystal X-ray analyses. Compound 2 has been shown to exhibit significant cytotoxicity toward P-388 and HT-29 cancer cells.

Purpose: We aimed to investigate if interleukin-1 beta (IL-1 beta) and IL-1 receptor antagonist (IL-1Ra) gene polymorphism could be used as markers of susceptibility in endometriosis., Materials and Methods: Women were divided into two groups: 1) endometriosis (n = 120); 2) nonendometriosis groups (n = 103). Polymorphisms for IL-1 beta-511 promoter, IL-1 beta exon 5, and IL-1Ra were detected by polymerase chain reaction. Genotypes and allelic frequencies for these polymorphisms in both groups were compared., Results: Proportions of different IL-1 and IL-1Ra polymorphisms in both groups were nonsignificantly different. Proportions of C homozygote/heterozygote/T homozygote for IL-1 beta-511 promoter in both groups were 1) 21.6/59.1/19.1% and 2) 26.2/50.5/23.3%. Proportions of E1 homozygote/heterozygote/E2 homozygote for IL-1 beta exon 5 in both groups were 1) 91.6/5/3.3% and 2) 95.15/4.85/0%. Allele I/II/IV/V for IL-1Ra in both groups were 1) 92.5/5.4/1.6/0.4% and 2) 95.1/3.9/1/0%., Conclusions: Association of endometriosis with IL-1 beta-511 promoter, IL-1 beta exon 5, and IL-1 receptor antagonist gene polymorphisms doesn't exist. These polymorphisms are not useful markers for prediction of endometriosis susceptibility.

Gaucher disease (GD), one of the most prevalent lysosomal storage diseases, is caused by deficiency of lysosomal acid beta-glucosidase (GBA). It is divided into three types according to the presence and progression of neurologic symptoms. Of those, type II is relatively rare and most severe; patients usually die before the age of two years. Using polymerase chain reaction (PCR) and direct sequencing of GBA gene in five Taiwanese type II GD patients, we identified two novel mutations: G355D and three-nucleotide insertion in exon 7 of GBA. The latter resulted in an in-frame insertion of a methionine residue between Leu241 and Ser242. L444P, the second most common GD allele among non-Jewish Caucasian population, was found in all five type II GD patients (50%). Overall, 9 out of 10 GD alleles were identified in this study. Direct sequencing of all PCR products led to high detection rate of GD alleles and identification of the RecNci 1 alleles. In the future, high throughput sequencing will make it possible identifying more rare mutations in type II GD patients.

Amino acid and acylcarnitine profiling of dry blood specimens using electrospray tandem mass spectrometry (ESI/MS/MS) has been recognized as an useful tool for screening inherited metabolic defects of newborns. In this pilot study, we introduced this technology to screen 2100 newborns to establish the normal amino acid and acylcarnitine level. Based on the upper cutoff level (average + 4*SD), twenty-nine samples studied were considered as abnormal. After follow-up samples and urine GC/MS analysis, only two were confirmed as true inborn errors. One was identified as hyperphenylalaninemia, and the other as isovaleric acidemia. The positive rate of true inborn metabolic error was 0.09% (2/2100), and the false positive rate 1.28% (29/2100) in this study. ESI/MS/MS is proven to be an adequate tool for inborn metabolic error screening.

Background: Crouzon syndrome is an autosomal dominant disorder causing premature fusion of the cranial suture. Mutations have been reported in exon IIIa or IIIc of the fibroblast growth factor receptor 2 (FGFR2) gene., Methods: In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing., Results: Mutations were detected in 67% (6/9) of all cases. More than half the studied Crouzon patients carried a mutation resulting in either the loss or gain of a cysteine residue. A novel mutation, Tyr281Cys substitution, was discovered at exon IIIa., Conclusions: The mechanisms by which the same genotypes cause different phenotypes for each type of craniosynostosis syndrome in still uncertain. However, the molecular identification of the FGFR gene has made a great impact on the clinical classification of craniosynostosis syndromes; a new classification based on genotypes seems to be unavoidable.

Background and Purpose: The formation of urinary stones is reported to be associated with the vitamin D receptor (VDR). As the most frequently seen polymorphism within the VDR gene is BsmI, it has been used as a genetic marker in searching for the cause of urolithiasis. We aimed to evaluate the association between calcium stone disease and the BsmI polymorphisms., Materials and Methods: A control group of 90 healthy people and a group of 124 patients with calcium oxalate stones were examined. The polymorphism was detected using polymerase chain reaction (PCR)-based restriction analysis. A PCR product length was determined to be 580 bp (BB) whereas two fragments of 405 bp and 175 bp were determined to be excisable (bb) by BsmI endonuclease. Associations between calcium stone disease and BsmI polymorphisms were evaluated., Results and Conclusions: The results revealed no significant difference between normal individuals and stone patients (P = 0.891). The allelic distribution of B and b were similar within both the normal group and the stone patients. Therefore, the BsmI polymorphism of the VDR gene at intron 8 is not a suitable genetic marker for urinary stone disease.

Osteoporosis is a common disorder with a strong genetic component. Our aim was to evaluate the correlation of the HindIII osteocalcin gene polymorphism to bone mineral density (BMD) and their relationship to osteoporosis. We determined the HindIII osteocalcin gene polymorphism using polymerase chain reaction (PCR)-based restriction analysis in postmenopausal Chinese women in Taiwan. The osteocalcin gene polymorphism was detected by the restriction enzyme HindIII, where the H allele indicated the absence of the cuttable site and the h allele indicated its presence. We then related the genotypes to BMD and occurrence of osteoporosis in these women. The allelic frequencies for postmenopausal Chinese women in Taiwan were 64% for h and 36% for H in HindIII restriction fragment length polymorphisms. The prevalence of each genotype in the study population was 37.7% hh, 52.6% Hh, and 9.7% HH. The subjects with genotype hh had the greatest BMD at the lumbar spine and the femoral neck, and those with HH had the smallest BMD at the femoral neck, but these differences did not reach statistical significance. The HindIII osteocalcin genotype showed a significant effect on the prevalence of osteoporosis in the subjects at the femoral neck, that is, women with genotype HH had a 6.4 times greater risk for osteoporosis (P < 0.05), and those with genotype Hh had a 1.2 times greater risk than women with genotype hh. In conclusion, the HindIII osteocalcin gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the femoral neck., (Copyright 2001 Wiley-Liss, Inc.)

Unlabelled: A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis. We studied 18 Taiwan Chinese patients with various types of craniosynostosis to evaluate if this mutation is also prevalent in the Chinese population. Genomic DNA was analysed by polymerase chain reaction based restriction analysis and direct sequencing to identify the Pro250Arg mutation in FGFR3. Five (28%) of 18 probands were heterozygous for the Pro250Arg mutation. Only those patients with coronal synostosis carried this mutation., Conclusion: Our findings suggest that all patients with coronal synostosis should be examined for this unique mutation.

Wilson disease (WND) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B). Twelve different mutations have previously been identified in Taiwan Chinese with Wilson disease. We, herein, report another 4 missense mutations, 1 of which is novel. We did haplotype analysis of Taiwanese WND chromosomes, using three well characterized short tandem repeat markers (haplotype was assigned in the order of D13S314-D13S301-D13S316). Association correlation was found between the mutations and their respective haplotypes. Haplotype-deduced pedigree analysis was shown to be helpful in the mutation analysis of WND chromosomes and in the molecular assessment of both pre-symptomatic WND patients and carriers. Given the complexity and heterogeneity of the mutation spectrum of ATP7B, we suggest that haplotype analysis should be performed before full-scale mutation analysis.

Type I oculocutaneous albinism (OCA1) is an autosomal recessive disorder, which is caused by the reduction or the absence of tyrosinase activity in melanocytes of the skin, hair and eyes. Although tyrosinase mutations of OCA1 have been extensively analyzed in most populations worldwide, there is no systemic study of OCA1 mutation in Chinese patients. By use of single strand conformation polymorphism and direct sequencing, we had detected 21 mutant alleles out of 24 OCA1 chromosomes screened (87.5%). Detected mutant alleles include one splicing site, three insertion/deletion and five missense mutations, of which the splicing site nucleotide alteration (IVS 1-3C>G) and two each of the insertion/deletion (232-233 ins GGG and 861-862 del TT) and missense mutations (Cys 289 Gly and Trp 400 Leu) are novel. The ins/del mutations accounts for about 37.5% in Chinese OCA1 alleles. The 232-233 ins GGG, one of the novel mutations, was found to be most frequent (25%) among the OCA1 alleles in Chinese. Through this study, we found that while some of the OCA mutant alleles were identified in other populations, ethnic difference still exists. Hum Mutat 14:542, 1999., (Copyright 1999 Wiley-Liss, Inc.)

Objective: To define the nature and incidence of minor anomalies in Chinese newborn infants and to evaluate the validity of the hypothesis that infants with three or more minor surface anomalies will also have a major malformation., Methods: A total of 3,345 Chinese newborn infants were examined based on a list of 67 items of minor anomalies., Results: About 44.9% of the newborn infants had at least one minor anomaly that was unrelated to gender, maternal age, or gestational age, but significantly associated with fetal presentation. Breech-presented newborn infants had double the risk of minor anomalies. Simian crease, upward slant and frontal bossing could be considered normal variants for Chinese newborn infants, because the incidence of each was higher than 4%., Conclusions: Although some studies have shown that approximately 90% of infants having three or more minor anomalies are associated with a major malformation, we found only a 10.1% predictive value based on this study. Nevertheless, we suggest that infants with three or more minor anomalies be carefully evaluated for the possibility of major malformation in order to provide early management.

Wilson disease is an autosomal recessive disorder of copper metabolism. Mutation screening in Wilson disease has led to the detection of at least 89 disease-specific mutations. Some mutations appear to be population specific, while others are common to many populations. In this study, 38 Taiwanese patients with Wilson disease were screened using single-strand conformation polymorphism analysis, followed by direct DNA sequencing. We found 12 different mutations, six of which were novel. All our detected mutations were found to be in eight exons. Four mutations in three loci (Arg778Gln, Arg778Leu, Gly943Asp, and Pro992Leu) accounted for about 58% of the mutant alleles we detected. Using an RNA transcriptional assay, we confirmed that both of our detected splice-site mutations resulted in exon skipping.

beta-Thalassemia, a hematologic disorder characterized by the deficiency or the absence of beta-globin production, is the most widespread inherited disorder in the world; it is also common in Taiwan. We studied 38 patients in central Taiwan with beta-thalassemia major, using amplified created restriction site analysis for detection. On analysis, six different point mutations were found among 76 chromosomes, of which 32 chromosomes (42.1%) had a C to T substitution at nucleotide 654, 30 (40%) had frameshift codons 41/42 with four nucleotides (TCTT) deletion, 7 (9.2%) had an A to T substitution at codon 17, 3 (3.9%) had frameshift codons 71/72 (insertion of A), 2 (2.6%) had an A to G substitution at position -28, and 2 (2.6%) had frame-shift codons 27/28 (insertion of C). The first two mutations accounted for 62 of the 76 beta-thalassemia mutations in this study. As to mutations in each individual with beta-thalassemia major, the incidence of compound heterozygotes of two different mutations was higher than that of homozygotes of a single mutation (60% vs 40%). Compound heterozygotes of C to T substitution at nucleotide 654 of IVS-2 and frameshift codons 41/42 with four-nucleotide deletion was the most common pattern of beta-thalassemia mutations in each individual (23.7%). Our results were unique compared with those from similar studies performed in southern China. Frequencies of beta-thalassemia mutations found in the current study were assessed and compared with frequencies found in previous studies conducted in northern and southern Taiwan.