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Biomedical subjects

Shou-Jen Kuo

Publications and source records attributed to Shou-Jen Kuo.

At least 19 recordsLinked to original sources

A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease.

OBJECTIVES: To identify whether any mutations of candidate genes including SHH, ZIC2, SIX3, and TGIF exist in a Taiwanese family segregated with holoprosencephaly (HPE) and moyamoya disease. METHODS: Genotypes of the candidate genes SHH, ZIC2, SIX3, and TGIF were determined in the family members who were available for analysis by sequencing. In addition, genomic regions of another 50 unrelated Taiwanese (100 chromosomes) were studied to verify whether the nucleotide changes we found were mutations or polymorphisms. RESULTS: A novel missense mutation 377T > C and two polymorphisms (420A > G and 487C > T) in the TGIF gene were identified. No mutations in SHH, ZIC2 and SIX3 were found. The mother of the three HPE fetuses was found to be afflicted with moyamoya disease. A brief review of the mutations as well as polymorphisms reported in the TGIF gene up to 2005 is given. CONCLUSION: Molecular diagnosis can help genetic counseling in HPE, which is a heterogeneous disorder with its phenotypic and genotypic spectrum highly widened and variable. The possible association between TGIF mutation and moyamoya disease noted in our study also appeared to be novel.

Adult↗

Expression of glucose transporter-1 in Taiwanese patients with breast carcinoma--a preliminary report.

Malignant cells show increased glucose uptake in vitro and in vivo. High expression of the glucose transporter-1 gene (GLUT1) has been found in many human tumor tissues. The aim of this study was to investigate the correlation between GLUT1 expression in breast carcinomas of Taiwanese patients and clinical prognostic parameters. Twenty-eight (71.8%) of the 39 breast carcinomas analyzed showed positive GLUT1 expression with different intensities: 1+, 19 cases (48.7%); 2+, 6 cases (15.4%), 3+, 3 cases (7.7%). No significant correlation was seen between GLUT1 expression and clinical prognostic parameters such as tumor size (p = 0.085), age (p = 0.4528), axillary lymph node metastasis (p = 0.9562), nuclear grade (p = 0.6895), estrogen receptor-positive (p = 1.0000), and progesterone receptor-positive (p = 0.9689).

Adult↗

Deregulated expression of the PER1, PER2 and PER3 genes in breast cancers.

Disruption of circadian rhythm may be a risk factor in the development of breast cancer, but molecular changes in circadian rhythm controlled genes in breast cancer cells are still unexplored. We used immunohistochemical staining, methylation specific PCR and direct sequencing methods to analyze molecular changes in three most important genes, namely PER1, PER2 and PER3, in circadian rhythm in 55 cases of breast cancer of Taiwanese women. Our results reveal disturbances in the expression of the three period (PER) genes in most (>95%) of the breast cancerous cells in comparison with the nearby non-cancerous cells. The PER gene deregulation is not caused by genetic mutations but most probably by methylation of the PER1 or PER2 promoter. Methylation of the PER gene promoters has a strong correlation with c-erbB2 expression (P = 0.017). Since the circadian clock controls expression of cell-cycle related genes, we suggest that disturbances in PER gene expression may result in disruption of the control of the normal circadian clock, thus benefiting the survival of cancer cells and promoting carcinogenesis. Differential expression of circadian genes in non-cancerous and cancerous cells may provide a molecular basis for chronotherapy of breast cancer.

Adult↗

3-D ultrasound texture classification using run difference matrix.

Ultrasonography is one of the most useful diagnostic tools for human soft tissue and it is in routine use in nearly all hospitals and many physicians' offices and clinics. However, the diagnosis mostly depends upon the personal experiences of the physicians. Moreover, the surface features and internal architecture of a tumor are not easy to be demonstrated simultaneously using the conventional two-dimensional (2-D) ultrasound. Recently, three-dimensional (3-D) ultrasound has been developed and allows the physician to view the 3-D anatomy. 3-D breast US can provide transverse, longitudinal planes as well as in addition simultaneously the coronal plane. This additional information has been proved to be helpful for clinical applications. In this paper, a new approach of texture classification of 3-D ultrasound breast diagnosis using run difference matrix with neural networks is developed. The test 3-D US image database includes 54 malignant and 161 benign tumors. In the experiments, the area index A(z) under the ROC curve of the proposal 3-D RDM method can achieve 0.9680. The accuracy, sensitivity, specificity, positive predictive value and negative predictive value of the proposed 3-D RDM method is 91.9%(148/161), 88.9%(48/54), 93.5%(100/107), 87.3%(48/55), and 94.3%(100/105), respectively.

Area Under Curve↗

Augmented release of matrix metalloproteinase-9 by PKC activation in organotypic cultures of human breast cancer and adjacent normal breast tissue and fibroadenoma.

The organotypic culture technique and quantitative gelatin zymography were used to determine the expression of matrix metalloproteinase (MMP)-9 and MMP-2 in human breast cancer and adjacent normal breast tissue and fibroadenoma. MMP-9 and MMP2 were constitutively expressed in all cultures. The release of these two enzymes in breast cancer was higher than that in adjacent normal breast tissue and fibroadenoma. Administration of 12-o-tetradecanoyl- phorbol-13-acetate (TPA) increased the release of MMP-9 but not of MMP-2. This response was inhibited by protein kinase C (PKC) inhibitor (H7), transcription inhibitor (actinomycin D) and translation inhibitor (cycloheximide). Moreover, the increased level of MMP-9 by TPA in breast cancer was also higher than that in adjacent normal breast tissue and fibroadenoma. These phenomena were also observed in the DAG-treated culture. These findings suggested that the MMP-9 expression in the breast cancer tissue may be more sensitive for the PKC activation.

1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine↗

Rapid detection of human HLA transgenes in pigs by fluorescence in situ hybridization (FISH) for adjuvant study of human xenotransplantation.

OBJECTIVES: We have recently generated several lines of transgenic pigs for HLA-DP and -DQ to elucidate the role of HLA-II antigens in the modulation of cell-mediated rejection of xenotransplantation. Using fluorescence in situ hybridization (FISH) analysis, the aim of this study was to determine integration sites and to test zygosity of these transgenes in the piglets after cross mating. METHODS: Blood lymphocytes of transgenic pigs for HLA-DP and -DQ were collected and cultured. Chromosome spreads were prepared by standard methodology. Gene constructs of HLA-DP A1+B1, -DQ A1 & B1 were labeled with fluorescein isothiocyanate or Texas Red by nick-translation. Hybridization was based on a standard FISH protocol. RESULTS: FISH analysis revealed that the HLA-DP probe hybridized to porcine chromosome 6, while both HLA-DQ A1 and B1 probes hybridized to porcine chromosome 11 at the same site. There was no cross-hybridization of HLA transgenes to the swine leukocyte antigen complex. Mosaic integration of HLA-DQ transgenes in the genome of F0, but full penetrance in F1 after selective breeding was observed. Both HLA-DP and HLA-DQ lines were determined to be heterozygous at the integration site. CONCLUSION: By FISH, we have detected specific integration sites of the HLA-DP and -DQ transgenes in pig genome and determined mosaic levels and zygosity types of these transgenes. We conclude that FISH is both sensitive and labor-efficient in confirming and differentiating transgenic pigs for multiple rejection-regulatory genes by visualizing individual integration sites in chromosomes or interphase nuclei.

Animals↗

Complex decongestive physiotherapy for patients with chronic cancer-associated lymphedema.

BACKGROUND AND PURPOSE: Lymphedema of the limbs after cancer therapy is the most common cause of lymphedema in developed countries. There is no cure for chronic cancer-associated lymphedema. Multidisciplinary complex decongestive physiotherapy (CDP) is commonly used as a primary treatment. This prospective study assessed the efficacy of intensive CDP treatment in chronic cancer-associated lymphedema. METHODS: Thirty women who had unilateral upper or lower limb chronic lymphedema after breast or pelvic cancer therapy were enrolled in the study. All patients received CDP once per day, in consecutive full treatment sessions, which took place between 4 and 21 times. Assessment of the results of therapy included measuring the circumference, calculated volume, and edema ratio (excess volume/unaffected side volume) of the limb volume. The main outcome measure was the percentage reduction in excess limb volume. RESULTS: The pretreatment edema ratio demonstrated a high correlation with the patient's age (r = 0.508, p = 0.004) and the duration of the lymphedema (r = 0.634, p < 0.000). After the intensive CDP, the limb circumference, calculated volume, and edema ratio were significantly reduced compared with their pretreatment values (p < 0.000). The mean percentage reduction of excess volume was 67.8 +/- 33.2% in all patients. CONCLUSIONS: Intensive CDP was effectively able to reduce the limb volume of patients with chronic cancer-associated lymphedema. Further follow-up study is needed to confirm the effectiveness of CDP in the maintenance phase, and its long-term effectiveness in Taiwanese.

Adult↗

Expression spectra of matrix metalloproteinases in metastatic non-small cell lung cancer.

By combining suppression subtractive hybridization and microarray to examine gene expressions between metastatic and non-metastatic non-small cell lung cancer (NSCLC), we have identified differential expression spectra of matrix metalloproteinases (MMP). Among MMPs, expressions of MMP-13, -14, -15 and -24 decreased, those of MMP-9, -11, -12, -16, -17, -19 and -23B did not change, and those of MMP-1, -2, -7, -8 and -10 increased dramatically. Overexpressions of MMP-1, -2, -7 and -10 were confirmed by reverse transcription-polymerase chain reaction. In this study we further assessed the clinical significance of MMP-1, -2, -7 and -10. Specimens from 472 patients with completely resected NSCLC were examined by immunohistochemistry. The median follow-up period was 38 months (range, 2-113 months). Overexpression of MMP-1 was observed in 72.9% (n=344) of 472 patients, that of MMP-2 was 77.9% (n=352), MMP-7 63.3% (n=299) and that of MMP-10 was 27.1% (n=128). For patients with lymph node metastasis, MMP-1 and -2 overexpressions were not only independent prognostic factors for unfavorable outcome, but also associated with decreased survival (p=0.0015, and p=0.011 respectively). The present study showed that MMP expression spectrum in NSCLC was heterogeneous: expression of some MMP increased, some unchanged, while some decreased. Therefore, it should be worth determining MMP expression pattern as a regimen reference for NSCLC patients who were scheduled to receive MMP inhibitor, which was class-specific, as adjuvant therapeutic agent.

Adult↗

Mutational, epigenetic and expressional analyses of caveolin-1 gene in breast cancers.

Caveolin-1, an integral membrane protein of caveolae found in many cell types, has been suggested as a candidate tumor suppressor. However, the mechanism underlying caveolin-1 decreased expression is not fully understood. The purpose of this study is to investigate the role of aberrant promoter methylation in the regulation of caveolin-1 gene in breast cancer correlated with clinical findings. We used methylation specific PCR, direct sequencing and immunohistochemistry stain methods to explore the role of caveolin-1 gene in the development of breast cancer. We demonstrated that 14 of 55 cases (25.5%) and 4 of 55 cases (7.3%) had methylated CpG-island on caveolin-1 promoter in cancerous and non-cancerous cells, respectively. The frequency of aberrant promoter methylation of breast cancer tissues was significant higher than non-cancerous tissues (p<0.05). There were four types of methylation pattern of caveolin-1 gene in the breast cancer tissues. No mutation but one polymorphism GAC right curved arrow GAT at codon 82 was found in the whole exonic sequences of caveolin-1 gene. The methylation status of caveolin-1 gene had no clear relationship with age, cell grade, stage of tumor, and status of estrogen receptor, p53 and c-erbB2 in the breast cancer tissues. However, in breast tissue with aberrant promoter methylation of caveolin-1 gene, the presence of progesterone receptor showed borderline statistic difference compared to unmethylated promoter (p=0.11). Immunohistochemistry demonstrated that expression of caveolin-1 gene correlated with aberrant promoter methylation status in sporadic breast cancer tissues. Our findings suggest that aberrant promoter methylation of caveolin-1 gene is associated with inactivation of expression. This process occurs in the precancerous stage and may play an important role in the development of breast cancer.

Base Sequence↗

Mutational screening of breast cancer susceptibility gene 1 from early onset, bi-lateral, and familial breast cancer patients in Taiwan.

The BRCA1 gene has been shown to be strongly associated with the occurrence of familial breast cancer. The spectrum of BRCA1 gene mutations in breast cancer patients in various populations has been investigated. In this study, patients in Central Taiwan with breast cancer were screened for BRCA1 mutations by sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. Twelve polymorphisms in four exons and three introns were found. One mutation was found in one patient with familial breast cancer. Two patients showed LOH at the locus of BRCA1. Also found in the Taiwanese population were two common haplotypes and one rare haplotype of BRCA1. These results suggest that the mutation of BRCA1 contributes little to the occurrence of breast cancer in the Taiwanese population.

Adult↗

Uniportal endoscopic thoracic sympathectomy for treatment of palmar and axillary hyperhidrosis: analysis of 2000 cases.

OBJECTIVE: Primary hyperhidrosis of the upper limbs is a common and troublesome condition in Taiwan. Therefore, we present our experience in treating hyperhidrosis via uniportal endoscopic thoracic sympathectomy. METHODS: Between April 1993 and March 2000, a total of 2000 patients underwent endoscopic thoracic sympathectomy for treatment of palmar or axillary hyperhidrosis. There were 1520 patients with palmar hyperhidrosis and 480 patients with axillary hyperhidrosis. There were 788 male and 1212 female patients, with a mean age of 22.9 years (range, 9-60 yr). All patients were placed in a semi-sitting position, with single-lumen-intubation anesthesia. We performed T2 sympathectomy at the second and third rib beds for patients with palmar hyperhidrosis, using an 8-mm, 0-degree, offset thoracoscope (Karl Storz GmbH & Co., Tuttlingen, Germany), via a 0.8-cm incision below each axilla. Similar procedures were used for T3 and T4 sympathectomies at the third, fourth, and fifth rib beds for patients with axillary hyperhidrosis. Questionnaires were sent to all patients after surgery. RESULTS: Among these 2000 patients, successful bilateral sympathectomies were performed for 1992 patients. The operations were usually completed within 20 minutes (range, 10-30 min). Most patients were discharged within 4 hours after surgery. The surgical complications were minimal, including pneumothorax (10 cases, 0.5%), segmental atelectasis (7 cases, 0.35%), hemothorax (2 cases, 0.1%), and mild wound infections (2 cases, 0.1%). There were no surgery-related deaths. The mean postoperative follow-up period was 51.7 months (range, 6-89 mo). A total of 1720 patients (86%) developed compensatory sweating of the trunk and lower limbs. The recurrence rates for palmar and axillary hyperhidrosis after surgery were 0 and 4.1% in the first year, 0.1 and 8.2% in the second year, 0.5 and 10.4% in the third year, 0.6 and 14.1% in the fourth year, and 1.3 and 16.7% in the fifth year, respectively. CONCLUSION: Uniportal endoscopic thoracic sympathectomy is a safe, effective method for the treatment of patients with palmar or axillary hyperhidrosis. For surgery, both a semi-sitting position and single-lumen-intubation anesthesia are recommended.

Adolescent↗

Classification of breast ultrasound images using fractal feature.

Fractal analyses have been applied successfully for the image compression, texture analysis, and texture image segmentation. The fractal dimension could be used to quantify the texture information. In this study, the differences of gray value of neighboring pixels are used to estimate the fractal dimension of an ultrasound image of breast lesion by using the fractal Brownian motion. Furthermore, a computer-aided diagnosis (CAD) system based on the fractal analysis is proposed to classify the breast lesions into two classes: benign and malignant. To improve the classification performances, the ultrasound images are preprocessed by using morphology operations and histogram equalization. Finally, the k-means classification method is used to classify benign tumors from malignant ones. The US breast image databases include only histologically confirmed cases: 110 malignant and 140 benign tumors, which were recorded. All the digital images were obtained prior to biopsy using by an ATL HDI 3000 system. The receiver operator characteristic (ROC) area index AZ is 0.9218, which represents the diagnostic performance.

Adolescent↗

Transparenchymal retraction maneuver: a simple technique in laparoscopic hepatectomy.

The performance of laparoscopic hepatectomy still presents technical problems. One of the main difficulties is the impossibility of directly grasping the liver during resection. To overcome this problem, we have begun using transparenchymal suture traction in laparoscopic hepatectomy. From January 2000 through August 2001, eight laparoscopic hepatectomies were performed using suture traction during parenchymal resection. The advantages of this technique include no leakage of pneumoperitoneum, no increased trocar hole, ability to repeat application to the liver from various directions, and better exposure of the transected line.

Hepatectomy↗

Extrahepatic division of the right hepatic vein in right hepatectomy for blunt liver trauma.

During a 5-year period, 10 patients with right-side blunt liver injury received an anatomic liver resection, using the technique of extrahepatic right hepatic vein division before hepatectomy. Five patients required a right posterior sectionectomy and 5 patients needed a right hemihepatectomy. The mean operation time was 146 minutes and median perioperative blood transfusion was 21.5 units (range, 4-94 units, packed red blood cell (PRBC) or whole blood). There was one hospital mortality; the patient died from multiple organs failure on postoperative day 5. Postoperative complications occurred in 4 of 9 surviving patients. Liver-related morbidity occurred in 2 patients who required reoperation for evacuation of subphrenic hematoma. The median hospital stay was 17 days (range, 6-84 days). Application of extrahepatic division of the right hepatic vein during a right hepatectomy for blunt liver trauma has several advantages: compression of a traumatic liver during mobilization; shortening of the ischemia duration; complete mobilization of the liver before parenchymal resection; and prevention of oozing with easier approximation of the raw surface.

Adolescent↗

An easier technique for minimally invasive video-assisted thyroidectomy.

Because of the efforts of many pioneer surgeons, the minimally invasive video-assisted thyroidectomy (MIVAT) has been recognized as a safe procedure, offering advantages such as better cosmetic outcome and less analgesic need. The MIVAT technique was described in 51 selected patients in 2001. The technique was not therefore widely used because of the excess operating time compared with traditional thyroidectomy, and most importantly, this method needed a steep learning period. This study reports a modified MIVAT procedure, which can make this operation easier and shorten the time of learning. We compared the outcomes of the originally described methods with our modified method. The selection criteria for performing MIVAT were as follows: thyroid nodules in one lobe and less than 50 mm on their largest diameter, benign lesion proved by fine-needle biopsy, patient without history of thyroiditis, and no previous neck surgery or irradiation. All patients received lobectomy. Sixty patients were eligible for MIVAT during a period of 27 months. The patients were divided into two groups. Group A consisted of the 17 patients who underwent MIVAT using the original technique that was described previously. Group B consisted of the 43 patients who underwent MIVAT using a self-designed Army retractor with a mosaic ring. The mean operation time of Group A was 120 minutes and that of Group B was 59.2 minutes. The size of the incisions was no difference in either group. There were no postoperative complications except in one patient with transient recurrent laryngeal nerve palsy in Group A. There was one conversion to open thyroidectomy in Group A and none in Group B. The cosmetic results were no different between the two groups. In conclusion, the use of a modified Army retractor with a mosaic ring made the MIVAT procedure easier and offered similar advantages.

Adolescent↗

Pseudomyxoma peritonei, origin from appendix: report of cases with images.

This report demonstrates the cases of a 47-year-old housewife, a 54-year-old female, and an 80-year-old woman in whom pseudomyxoma peritonei was found accidentally during surgery. Pseudomyxoma peritonei is a rare disease. No effective treatment is known. Modern treatments include radical surgical excision with appendicectomy and oophorectomy in women and adjuvant hyperthermic intraperitoneal and systemic chemotherapy. Major causes of morbidity and mortality are bowel obstruction and biliary obstruction. Five-year survival rate, depending on whether the disease is benign or malignant, is about 53-75%. Median survival is about 2 years under surgical management.

Aged↗

A 10-year experience of unsuspected gallbladder cancer after laparoscopic cholecystectomy.

Unsuspected gallbladder cancer after laparoscopic cholecystectomy (LC) is a cancer that was previously manipulated by laparoscopic technique. The reported incidence was 0.3-1% and became an emerging problem as the popularity of LC increased. Lack of reliable data could address the outcome of reresection or nonreresection patients and the standard management. This study reviewed a single center experience in managing unsuspected gallbladder cancer patients after LC between July 1, 1992 and July 1, 2000 who had at least 2 years of follow-up. There were 11 patients (0.6%) postoperatively diagnosed with gallbladder cancer after 1825 LCs. Group A included three patients (28%) with nontransmural invasion, group B included four patients (36%) who had transmural invasion without secondary surgical intervention, and group C included four patients (36%) with reresection. The perioperation parameters and strategies were collected and compared. A review of the literature was performed simultaneously, and we concluded that unsuspected gallbladder cancer with nontransmural invasion needs no further treatment; however, aggressive reresection is beneficial to transmural invasion cancer, and prevention of bile spillage during LC should be the goal of every surgeon.

Adult↗