Biomedical subjects

Cheng-Chun Lee

Publications and source records attributed to Cheng-Chun Lee.

At least 19 recordsLinked to original sources

PubMed2007

Angiotensin I-converting enzyme insertion-related genotypes and allele are associated with higher susceptibility of endometriosis and leiomyoma.

Endometriosis and leiomyoma display features similar to malignancy, requiring neovascularization to proliferation and growth. Altered vascular-related genes might be related to the development of endometriosis and leiomyoma. Polymorphisms of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) genes have been linked with some vascular diseases. This study investigates whether ACE I/D gene polymorphisms could be used as markers of susceptibility in endometriosis and leiomyoma. Women were divided into three groups: (1) endometriosis (n = 125); (2) leiomyoma (n = 120); (3) normal controls (n = 128). Genomic DNA was obtained from peripheral leukocyte. ACE I/D gene polymorphisms in intron 16 were amplified by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) Genotypes and allelic frequencies in both groups were compared. We observed the genotype distribution and allele frequency of ACE I/D gene polymorphisms in both groups were significantly different. Proportions of ACE*I homozygote/heterozygote/D homozygote in both groups were: (1) 50.4/24/25.6%; (2) 25/23.33/51.67%; (3) 10.2/29.7/60.1%. Proportions of I/D alleles in each group were: (1) 62.4/37.6%; (2) 36.7/63.3%; (3) 25/75%. We concluded that ACE*I/D gene polymorphisms are associated with endometriosis and leiomyoma susceptibilities. ACE*I-related genotypes and allele are strongly related to the occurrence of endometriosis and moderately related to the occurrence of leiomyoma.

Endometriosis↗

PubMed2007

Association of GABRG2 polymorphisms with idiopathic generalized epilepsy.

Missense mutations in the gamma2 subunit of gamma-aminobutyric acid (GABA) receptor gene have recently been described in families with idiopathic generalized epilepsies. This study aimed to evaluate whether polymorphisms of the gamma2 subunit of the GABA receptor gene are associated with idiopathic generalized epilepsies. A total of 77 children with idiopathic generalized epilepsies and 83 normal control subjects were included in the study. Polymerase chain reaction was used to identify the C/T and A/G polymorphisms of the gamma2 subunit of the GABA receptor gene on chromosome 5q33. Genotypes and allelic frequencies in both groups were compared. The gamma2 subunit of the GABA receptor (nucleotide position 3145 in intron G-> A) gene in both groups was not significantly different. In contrast, the gamma2 subunit of GABA receptor (SNP211037)-C allele frequency in patients with idiopathic generalized epilepsies was significantly higher than that in healthy control subjects (P = 0.002). The odds ratio for developing idiopathic generalized epilepsies in individuals with the gamma2 subunit of the GABA receptor (SNP211037)-C/C genotype was 3.61 compared with individuals with the gamma2 subunit of the GABA receptor (SNP211037)-T/T genotype. These data suggest that the gamma2 subunit of the GABA receptor gene might be one of the susceptibility factors for idiopathic generalized epilepsies.

Adolescent↗

PubMed2006

Abnormal movement-related cortical potential in patients with subcortical heterotopia.

Movement-related cortical potential (MRCP) is recorded to investigate the cerebral motor preparation in two patients with subcortical heterotopia. Magnetic resonance imaging (MRI) studies were conducted in the two patients. Scalp MRCP elicited by self-paced voluntary extension of the wrist was recorded. The MRCP waveforms and the potential maps were compared to those of an age-matched normal subject. MRI reveals subcortical heterotopia in the right frontal area and bilateral centrum semiovale in one patient and in the left parietal lobe in the other. Both of the patients had history of early onset epilepsy and were hypersensitive to unexpected loud noises. Distinctly different from the normal MRCP, the waveforms of the patients are flattened in all scalp electrodes by moving either the right or the left hand. And the topographic potential map detects no evidence of preponderance of negativity on the hemisphere contralateral to the moving side in the patients. The ectopic neurons of the subcortical heterotopia may produce chaotic discharges, which can interrupt or cancel the well oriented dipole of the MRCP activities.

Adult↗

PubMed2006

Mutation analysis of Taiwanese Wilson disease patients.

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, which is caused by mutation in copper-transporting ATPase (ATP7B). In the present study, we report a molecular diagnosis method to screen the WD chromosome in patients or in heterozygotic carriers in Taiwan. Exons 8, 11, 12, 13, 16, 17, and 18 of ATP7B are selected for the screening of mutations. The most common mutation, Arg778Leu or Arg778Gln, was first screened by PCR-RFLP then we combined single-stranded conformation polymorphism (SSCP) analysis followed by direct DNA sequencing on the DNA fragments with mobility shift on SSCP analysis. The diagnostic rate was compared with standard ATP7B whole gene sequencing analysis. Ten different mutations were identified among 29 WD patients; among them four were novel (Ala1168Pro, Thr1178Ala, Ala1193Pro, and Pro1273Gln). The false positive rates were tested against 100 normal individuals and listed as follows: exon 8: 5%; exon 11: 4%; exon 12: 6%; exon 13: 5%; exon 16: 5%; exon 17: 3%; exon 18: 4%. The Arg778Leu mutation exhibited the highest allelic frequency (43.1%). The detection rate of WD chromosomes is 65.52%, which is as sensitive as whole gene sequencing scanning. According to our results, WD chromosomes in Taiwan are predominantely located at exons 8, 11, 12, 13, 16, 17, and 18. The standard sequencing analysis on the entire gene is time consuming. We recommend screening these 7 exons first on those individuals who have a higher risk in having WD, before whole gene and promoter sequencing analysis in Taiwan.

Adenosine Triphosphatases↗

PubMed2006

Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.

Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the beta-glucosidase gene. Although >200 mutations in the gene for human beta-glucosidase have been described, most genotype/phenotype studies have focused on screening for a few common mutations. In the present study, whole gene sequencing analysis was performed. We sequenced eight patients with type 1, five patients with type 2, and six patients with type 3 Gaucher disease in Taiwan. A total of 37 Gaucher chromosome were identified. The detection rate is 97%. For types 1 and 3 Gaucher disease, 1448 T > C (L444P) account for 53.5% Gaucher chromosome and the recombinant allele [1448 T > C, 1483 T > G, 1497 G > C] (RecNciI) has 25% prevalence rate among those patients. For type 2 Gaucher disease, all five patients carry L444P mutation, and RecNciI is found in two of the six patients. Because L444P is also present in the RecNciI mutation, all the patients in this study have a L444P mutation in their Gaucher chromosomes. The third most common mutation of type 1 Gaucher disease is 475 C > T (R120W). L444P homozygote and R120W/RecNciI genotypes are associated with non-neuronopathic Gaucher disease. RecNciI is related to neuronopathic disease, while R120W is represented as a mild mutation in Taiwan. The mutation profile of Gaucher disease in Taiwan is limited. Only four different alleles were identified in types 1 and 3 as well as in type 2 Gaucher disease.

Adolescent↗

PubMed2006

Mutation analysis of Crouzon syndrome in Taiwanese patients.

Crouzon syndrome is an autosomal-dominant disorder that causes premature fusion of the cranial suture. Crouzon, Pfeiffer, and Apert syndromes are caused by mutations in the extracellular, third immunoglobulin-like domain, and adjacent linker regions (exons IIIa and IIIc) of the fibroblast growth factor receptor 2 (FGFR2) gene. We screened 12 Crouzon syndrome patients for mutations in exons IIIa and IIIc of the FGFR2 gene by polymerase chain reaction (PCR) and direct sequencing. Mutations were detected in nine of 12 patients at amino acid positions 278, 281, 289, 342, and 354. More than half of the studied Crouzon patients carried a mutation resulting in either the loss or gain of a cysteine residue. A novel missense Ser354Phe substitution at exon IIIc of the human FGFR2 gene was found. According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome.

Amino Acid Substitution↗

PubMed2006

Vitamin D receptor gene polymorphisms are associated with risk of Hashimoto's thyroiditis in Chinese patients in Taiwan.

The etiology of the autoimmune thyroid, Hashimoto's thyroiditis (HT) is not very clear. However, genetic susceptibility is thought to play a critical role. The vitamin D receptor (VDR)-related endocrine system has been demonstrated to be able to carry out modulation of the immune response. Here, we investigated whether single nucleotide polymorphisms (SNPs) of VDR are associated with HT patients. VDR SNP was detected by polymerase chain reaction (PCR)-based restriction analysis in 109 patients with HT and 90 normal controls. Significant differences were found in the genotype distribution of VDR SNP between Hashimoto's thyroiditis patients and controls (P=0.0458). Allelic frequency of the VDR gene distinguished HT patients from controls (P=0.0089). The results revealed a significant difference between HT patients and normal controls in VDR SNP and a statistic correlation between VDR-FokI polymorphisms and HT formation. It could be concluded that patients who carry the C/C homozygote of the VDR-FokI gene polymorphism in exon 2 may have a higher risk of developing HT in Chinese patients in Taiwan.

Adolescent↗

PubMed2005

Dopamine receptor D2 gene polymorphisms are associated in Taiwanese children with Tourette syndrome.

The pathophysiology of Tourette syndrome may involve the dopamine system. Dysfunction of the dopamine receptor D2 gene leads to many neuropsychiatric disorders. The objective of this study is to test the hypothesis that the dopamine receptor D2 gene may play a role in Tourette syndrome. A total of 151 children with Tourette syndrome and 183 normal control subjects were included in the study. Polymerase chain reaction was used to identify the Taq I DRD2 and DRD2 (H313H) polymorphisms of the dopamine receptor D2 gene. The genotype proportions of Taq I DRD2 and DRD2 (H313H) polymorphisms in the two groups were significantly different (P < 0.01 for both). The odds ratio for developing Tourette syndrome in individuals with the Taq I DRD2 A1 homozygote was 2.253 (95% confidence interval, 1.124-4.517) compared with individuals with the Taq I DRD2 A2 homozygote. The odds ratio for developing Tourette syndrome in individuals with the DRD2 (H313H) C homozygote was 2.96 (95% confidence interval, 1.398-6.269) compared with individuals with DRD2 (H313H) T homozygote. This study has demonstrated an association between the dopamine receptor D2 gene and Tourette syndrome. These data suggest that the dopamine receptor D2 gene or a closely linked gene might be one of the susceptibility factors for Tourette syndrome.

Asian People↗

PubMed2005

Pharmacogenetic studies of response to risperidone and other newer atypical antipsychotics.

Risperidone and other newer atypical antipsychotics are becoming the mainstay for schizophrenia treatment. Recent studies suggest that the 5-hydroxytryptamine receptor 2A (5-HT2A) gene (HTR2A) T102C and G-1438A polymorphisms may influence treatment response of risperidone or olanzapine for schizophrenia's negative symptoms (e.g., blunted affect and social withdrawal). In addition, the HTR6 T267C polymorphism has been linked to risperidone response for positive symptoms (delusions and hallucinations). The dopamine D2 receptor (DRD2) Ser311Cys polymorphism may also play a role in determining risperidone efficacy for positive, negative and cognitive symptoms, the DRD2 Ins-A2/Del-A1 diplotype may predict better risperidone response, and the DRD3 Ser311Cys variant may affect general treatment response of several atypical agents. Although investigators have started to explore genetic effects on cognitions of schizophrenia patients receiving antipsychotics, future larger sized pharmacogenetic studies on both psychotic symptoms and cognitive functions are warranted.

Antipsychotic Agents↗

PubMed2005

Fetus in fetu in an adult: diagnosis by computed tomography imaging.

The term "fetus-in-fetu" refers to a monozygotic, diamniotic twin that is incorporated into the body of another sibling early in embryonic development. A fetus in fetu is a differentiated mass that, in contrast to a teratoma, has a discrete spinal column and well developed internal organs. Most cases of fetus-in-fetu are discovered as a retroperitoneal mass in the first year of life, and the condition is unusual in adulthood. We describe a case of fetus-in-fetu incidentally discovered in a 39-year-old man who complained of mild epigastralgia. Abdominal ultrasound revealed a mass at the right upper quadrant of the abdomen. Fetus-in-fetu was diagnosed by computed tomography as an incidental finding, which was not clearly related to his abdominal discomfort. The fetus-in-fetu was treated conservatively. His radiologic as well as clinical condition remained unchanged during 4 years of follow-up.

Adult↗

PubMed2005

Clinical and magnetic resonance imaging manifestations of Holmes tremor.

Holmes tremor is a rare symptomatic slow tremor in the proximal parts of the limbs. It may be present at rest or maintenance of a posture, or during the movement of the affected limb. We describe herein three patients of Holmes tremor with possible etiologies of brainstem infarction and head injury. The intervals between the causal events and the appearance of tremor range from 1 month to 12 months. Magnetic resonance imaging studies reveal hypertrophy of the inferior olivary nucleus in all of the three patients, although only one of them has palatal myoclonus. The surface electromyographic recordings reveal characteristic slow oscillation with frequencies of 3.5 to 4.2 Hz. These features suggest that perturbation of the dentato-rubral-olivary circuitry may play a pivotal role for the generation of Holmes tremor. However, no tight correlation is observed between the presence of inferior olivary nuclear hypertrophy and the appearance of symptomatic palatal myoclonus in the current report.

Adult↗

PubMed2004

Effects of dopamine D2 receptor Ser311Cys polymorphism and clinical factors on risperidone efficacy for positive and negative symptoms and social function.

Risperidone is an atypical antipsychotic agent with efficacy for both positive and negative symptoms of schizophrenia. However, what makes an antipsychotic 'atypical' remains unclear. We recently found that the T102C polymorphism in the 5-HT2A receptor gene could affect risperidone's efficacy for negative symptoms. The present study investigated the effect of the Ser311Cys polymorphism in the dopamine D2 receptor (DRD2) gene on risperidone treatment response. A total of 123 Han Chinese patients with acutely exacerbated schizophrenia were given risperidone for up to 42 days. Clinical manifestations were measured bi-weekly with Positive and Negative Syndrome Scale (PANSS) and Nurses' Observation Scale for Inpatients Evaluation (NOSIE, for assessment of social function). For adjusting the within-subject dependence over repeated assessments, multiple linear regression with generalized estimating equation methods was utilized to analyse the effects of Ser311Cys polymorphism and other covariates on clinical performance. Compared with patients who had the Ser311Ser genotype, patients with the Ser311Cys genotype had lower scores on PANSS Positive, Negative, General Psychopathology and Cognitive subscales and NOSIE, after adjustment for 5-HT2A T102C polymorphisms and other confounders. The 5-HT2A T102C polymorphism had marginal influences on PANSS Total and Negative subscale scores. Male gender, fewer previous hospitalizations, and higher risperidone dose predicted better treatment response after control for other variables. The preliminary results suggest that variations in the DRD2 gene influence risperidone treatment response for positive, negative, and cognitive symptoms, general psychopathology, and social functioning. Several clinical factors may also contribute to inter-individual differences in risperidone treatment response.

Adult↗

PubMed2004

Kindling stimuli delivered at different times in the sleep-wake cycle.

STUDY OBJECTIVES: Clinical and experimental observations argue that sleep disturbances are common and coexist in patients with epilepsy. Our previous observations have suggested that neural-immune interactions between corticotropin-releasing hormone (CRH) and interleukin-1 (IL-1) are involved in the regulation of physiological sleep-wake behavior. In the present study, we determined the involvement of CRH and IL-1 in the alteration of sleep-wake activities in rats when amygdala kindling was given either at the beginning of the light period (light-onset kindling) or at the beginning of the dark period (dark-onset kindling). DESIGN: The analysis of sleep-wake activities was performed before and after full-blown kindling, and the actions of CRH and IL-1 were tested by pharmacological blockade. SETTING: Neuroscience Laboratory at China Medical University Hospital. PARTICIPANT AND INTERVENTIONS: Male Sprague-Dawley rats were implanted with electroencephalogram (EEG) electrodes and an intracerebroventricular (ICV) guide cannula. Kindling stimuli delivered via a bipolar electrode placing in the right central nucleus of the amygdala. MEASUREMENT AND RESULTS: Amygdala kindling induced diverse effects on sleep. Slow-wave sleep (SWS) and rapid eye movement (REM) sleep decreased during the first 12-hour light period when rats were kindled at light onset. When dark-onset kindling was given, SWS increased but REM sleep was not altered during the first 12-hour dark period. After light-onset kindling, the circulating corticosterone concentrations increased and were blocked by ICV administration of the CRH receptor antagonist, astressin or alpha-hCRH. The ICV administration of the CRH antagonist blocked the light-onset kindling-induced decrease of SWS in a dose-dependent manner. After dark-onset kindling, IL-1 mRNA expression in the hippocampus and cortex increased. The dark-onset kindling-induced SWS was blocked in a dose-dependent manner by ICV administration of IL-1 receptor antagonist (IL-1 ra). The slow-wave activity during SWS was enhanced regardless of when kindling occurred, but both CRH antagonists and IL-1 ra had little effect on the alteration of slow-wave activity. CONCLUSION: These observations argue that amygdala-kindling-induced sleep-wake alterations are modulated by central increases in CRH or IL-1.

Amygdala↗

PubMed2004

Brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms in febrile seizures.

Various studies have shown that brain-derived neurotrophic factor (BDNF) increased neuronal excitability. We tested that BDNF might be involved in the etiology of febrile seizures (FSs). A total of 186 Taiwanese children were divided into two groups: (1) FSs (n = 104); (2) normal control subjects (n = 83). A single base pair polymorphism SNP6265 (Val66Met) at position 196 was analyzed. Our findings suggest that the BDNF polymorphisms were not candidate genetic markers.

Alleles↗

PubMed2004

Association analysis between Tourette's syndrome and dopamine D1 receptor gene in Taiwanese children.

OBJECTIVE: Recent research suggests that Tourette's syndrome (TS) may result from a defect in the dopamine system. The dopamine 1 receptor (DRD1) gene is a candidate gene in the study of the etiology of neuropsychiatric diseases that may involve dopaminergic abnormalities. We sought to test the hypothesis that the DRD1 gene might play a role in TS. METHODS: By performing an association study, we collected an independent sample of patients from the midland region of Taiwan and investigated whether DRD1 gene polymorphisms can be used as markers of susceptibility to TS. A total of 148 children with TS and 83 normal control subjects were included in the study. A polymerase chain reaction was used to identify the A/G polymorphism of the DRD1 gene. Genotypes and allelic frequencies for the DRD1 gene polymorphisms in both groups were compared. RESULTS: The results showed that genotypes and allelic frequencies for the DRD1 gene polymorphisms in both groups were not significantly different. CONCLUSION: These data suggest that DRD1 gene may not be a useful marker for prediction of the susceptibility of TS.

Child↗

PubMed2004

Multifocal acquired demyelinating sensory and motor neuropathy: report of a case and review of the literature.

Multifocal acquired demyelinating sensory and motor (MADSAM) neuropathy is characterized by an asymmetric multifocal pattern of motor and sensory loss, and conduction block and other features of demyelination in nerve conduction studies. MADSAM neuropathy needs to be differentiated from chronic inflammatory demyelinating polyneuropathy (CIDP) and multifocal motor neuropathy (MMN). In classic CIDP, there are symmetric proximal and distal weakness, sensory deficit in both upper and lower extremities and reduced deep tendon reflex. In MMN, limb weakness without sensory loss is asymmetric in the distribution of individual peripheral nerves and the weakness typically begins in the distal upper extremities. We report one patient with chronic progression of asymmetric numbness and weakness in four extremities. MADSAM neuropathy was diagnosed after extensive clinical and laboratory evaluations. It is very important to distinguish between CIDP, MADSAM neuropathy, and MMN by clinical, laboratory, and histological features because of different effective therapeutic strategies.

Adult↗

PubMed2003

Genetic analysis of chromosome 22q11.2 markers in congenital heart disease.

Congenital heart disease (CHD) is a common cardiac defect found in infants and children. Despite advances in diagnosis and treatment, our understanding of the causative mechanism and etiology of CHD is limited. To determine the genetic etiology of CHD, we selected 11 consecutive short tandem-repeat polymorphic (STRP) markers located in the interval of the 22q11.2 region to perform genotype analysis on a large number of CHD patients (>120) and their normal relatives (>220). The results show that as regards the distribution of allelic size and frequency of these STRP markers, there were no significant differences between the CHD patients and the normal volunteers. This indicates that there is no linkage disequilibrium with these markers in CHD. In the level of heterozygosity for each marker in nonsyndromic CHD and conotruncal heart defect (CTD), there were no significant differences between the two populations. In syndromic CHD, the level of heterozygosity for D22S1648 was significantly lower than that observed in the unaffected population (chi(2) = 11.25; P = 0.001). This suggests that there may be a deletion at the D22S1648 locus, and the low heterozygosity of D22S1648 indicates that this marker can be used as a genetic marker for detecting microdeletions in 22q11.2. With the use of fluorescence in situ hybridization (FISH) and real-time quantitative polymerase chain reaction (PCR) performed on syndromic patients, we confirmed the molecular results.

Chromosome Mapping↗

PubMed2003

Objective evidence of a high prevalence of renal damage in women with type 2 diabetes by technetium-99m DMSA renal cortex scan findings.

OBJECTIVES: To compare control women with men and women with type 2 diabetes mellitus (DM) for the prevalence and type of renal damage due to urinary tract infections (UTIs) using technetium-99m dimercapto-succinic acid (99mTc DMSA) renal scanning. Women with DM have UTIs more often than do women without DM. It is unknown, however, what the prevalence and type of renal damage due to UTI are in these women. METHODS: Three groups of patients: 28 control women without type 2 DM and a history of UTIs, 25 male patients with type 2 DM but without a history of UTIs, and 103 female patients with type 2 DM underwent 99mTc DMSA renal scan. The 103 women with type 2 DM were separated into three groups: 36 women without a history of UTIs, 34 patients with a history of cystitis only, and 33 with a history of pyelonephritis. RESULTS: All the control women and male patients with type 2 DM without a history of UTIs had normal 99mTc DMSA renal scan findings. However, 39.8% of women with type 2 DM had abnormal 99mTc DMSA renal scan findings. Women with type 2 DM without a history of UTI had a significantly lower prevalence of abnormal renal scan findings than did those with a history of cystitis only or pyelonephritis. In addition, the prevalence of abnormal renal scan findings was significantly higher in women with type 2 DM with pyelonephritis than in those with a history of cystitis only. Renal scars on 99mTc DMSA renal scans were found in women with type 2 DM and a history of pyelonephritis. CONCLUSIONS: Compared with control women and men with type 2 DM, women with type 2 DM, especially if they had a history of UTIs, had a significantly higher prevalence of abnormal 99mTc DMSA renal scan findings.

Adult↗