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Yu-Sen Huang,Zheng-Wei Chen,Wen-Jeng Lee,Cho-Kai Wu,Ping-Hung Kuo,Hsao-Hsun Hsu,Shu-Yu Tang,Cheng-Hsuan Tsai,Mao-Yuan Su,Chi-Lun Ko,Juey-Jen Hwang,Yen-Hung Lin,Yeun-Chung Chang The Korean Society of Radiology 2023 Korean Journal of Radiology Vol.24 No.4
Objective: To quantitatively assess the pulmonary vasculature using non-contrast computed tomography (CT) in patients with chronic thromboembolic pulmonary hypertension (CTEPH) pre- and post-treatment and correlate CT-based parameters with right heart catheterization (RHC) hemodynamic and clinical parameters. Materials and Methods: A total of 30 patients with CTEPH (mean age, 57.9 years; 53% female) who received multimodal treatment, including riociguat for ≥ 16 weeks with or without balloon pulmonary angioplasty and underwent both non-contrast CT for pulmonary vasculature analysis and RHC pre- and post-treatment were included. The radiographic analysis included subpleural perfusion parameters, including blood volume in small vessels with a cross-sectional area ≤ 5 mm<sup>2</sup> (BV5) and total blood vessel volume (TBV) in the lungs. The RHC parameters included mean pulmonary artery pressure (mPAP), pulmonary vascular resistance (PVR), and cardiac index (CI). Clinical parameters included the World Health Organization (WHO) functional class and 6-minute walking distance (6MWD). Results: The number, area, and density of the subpleural small vessels increased after treatment by 35.7% (P < 0.001), 13.3% (P = 0.028), and 39.3% (P < 0.001), respectively. The blood volume shifted from larger to smaller vessels, as indicated by an 11.3% increase in the BV5/TBV ratio (P = 0.042). The BV5/TBV ratio was negatively correlated with PVR (r = -0.26; P = 0.035) and positively correlated with CI (r = 0.33; P = 0.009). The percent change across treatment in the BV5/TBV ratio correlated with the percent change in mPAP (r = -0.56; P = 0.001), PVR (r = -0.64; P < 0.001), and CI (r = 0.28; P = 0.049). Furthermore, the BV5/TBV ratio was inversely associated with the WHO functional classes I-IV (P = 0.004) and positively associated with 6MWD (P = 0.013). Conclusion: Non-contrast CT measures could quantitatively assess changes in the pulmonary vasculature in response to treatment and were correlated with hemodynamic and clinical parameters.
Rong-Jen Shiau,Yu-Der Wen,Hsien-Tzung Shih,Shin-Yi Chen,Chiou-Chu Su,Wei-Huang Tsai 한국응용곤충학회 2011 Journal of Asia-Pacific Entomology Vol.14 No.4
Xylophagous leafhoppers are vectors of xylem-limited plant pathogens such as citrus variegated chlorosis (CVC) and Pierce's disease, which cause Xylella diseases. Currently, no cure for Xylella diseases exists. The objective of endosymbiont control using Wolbachia pipientis is to reduce the populations of insect vectors,potentially preventing the expansion of Xylella diseases. The purpose of this study was to establish primary cell cultures from adult xylem-feeding leafhoppers to study Wolbachia biology. Cells from adult male and female Kolla paulula (Walker) (Hemiptera: Membracoidea: Cicadellinae) were successfully cultured in Dulbecco's Modified Eagle Medium containing 20% fetal bovine serum and were maintained for more than 6 months. Cells of both male and female adults are round and semi-attached. The doubling times for male and female K. paulula cells are approximately 8 and 10 days, respectively. The presence of Wolbachia in K. paulula cell cultures was detected by polymerase chain reaction (PCR) amplification of Wolbachia surface protein (wsp) gene. The cell cultures developed in this study may be useful in studying interactions between Wolbachia and its hosts of different genders.
Pen Hua Su,Jia Yuh Chen,Ju Shan Yu,Suh Jen Chen,Teng Fu Tsao,Shih Jei Tsai 한국유전학회 2008 Genes & Genomics Vol.30 No.4
Cleidocranial dysplasia (CCD, #119600) is a rare, autosomal dominant bone disease characterized by hypoplastic or aplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal disorders. This disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors (RUNX2). We report one Taiwanese girl with CCD, with multiple wormian bones, persistent synchondrosis, supernumerary teeth, hypoplasia of clavicles, delayed ossification of pubic bone, and short stature. She also has partial fusion of the left 4th and 5th ribs, and posterior cerebral artery malformation. We performed sequence analysis of the RUNX2 gene, and detected a heterozygous C to G transition mutation at nucleotide 1115 in exon 7, leading to P372R mutation. This is an unreported missense mutation in exon 7 which effected the trausactivation domain of RUNX2.
Pen Hua Su,Ju Shan Yu,Suh Jen Chen,Jia Yuh Chen 한국유전학회 2008 Genes & Genomics Vol.30 No.3
Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by distinctive facial dysmorphism, including low anterior hairline, synophrys, anteverted nares, maxillary prognathism, long philtrum, and carp mouth; prenatal and postnatal growth retardation; mental retardation; limb anomalies; and multiple organ defects. The disease is caused by mutations in the NIPBL gene located at 5p13.1. To date, a variety of NIPBL mutations have been identified and shown to be associated with CdLS symptoms. Here, three Taiwanese subjects exhibiting multiple features of CdLS were analyzed in this study. One of the subjects characterized by classic CdLS symptoms had a novel frameshift mutation (C.3196delT) in exon11 of the NIPBL gene complex followed by a premature termination codon four amino acids downstream, whereas the two other subjects characterized by less pronounced CdLS symptoms had no detectable mutations in that part of thethe NIPBL gene complex that was analyzed herein. However, the former two subjects had a novel and unreported polymorphism in exon 33 that was also detected in the corresponding allele of 77 of 200 healthy Taiwanese control subjects. In conclusion, we report a novel NIPBL mutation likely associated with CdLS and one new polymorphism that is likely not related to CdLS. These observations suggest that truncating mutations were generally associated with a more severe phenotype. Additional studies using an expanded population of CdLS patients are being performed to enhance our understanding of the role of NIPBL in CdLS pathogenesis.
Pen Hua Su,Jia Yuh Chen,Ju Shan Yu,Suh Jen Chen,Jui Ming Hu,Jia Min Yang 한국유전학회 2007 Genes & Genomics Vol.29 No.3
X-linked chondrodysplasia punctata (CDPX 1) is a congenital disorder characterized by abnormalities in cartilage and bone development. Here, we examined a young, male subject diagnosed with chondrodysplasia punctata presented by typical radiologic findings of calcific stippling at the vertebrae as well as in the sacral area. CDPX 1 has long been thought to be a hereditary disease of generalized skeletal dysplasia. We discovered a de novo frame shift mutation in the arylsulphatase gene, ARSE, which generated an early stop codon. Remarkably, the mother of the newborn subject consumed Chinese herbs, cnidiir rhizome, during the entire pregnancy period. To the best of our knowledge, this is the first report of chondrodysplasia punctata that is correlated with mutations in exon 9 of the ARSE gene. Furthermore, we postulated that consuming specific herbs during prolonged periods while pregnant could be directly or indirectly related to the occurrence of mutation in the ARSE gene and may as a consequence lead to drug embryopathy.
De Novo Partial Trisomy 14 and Extra Marker Chromosome in a Newborn Male with The CHARGE Syndrome
Pen-Hua Su,Ming Chen,Jia-Yuh Chen,Suh-Jen Chen,Ju-Shan Yu,Yu-Jie Kai 한국유전학회 2007 Genes & Genomics Vol.29 No.1
The characteristic phenotype of partial trisomy 14 includes growth and developmental retardation, microcephaly, distinctive facies and anomalies of the hands and feet. In many cases, the presence of marker chromosomes complicates the phenotypic picture. We describe a ompatible with CHARGE syndrome. The patient presented with intrauterine growth retardation, coloboma, heart disease, choanae stenosis, cleft palate, corpus calosum genital anomalies, azygos anterior cerebral artery (ACA), single internal carotid artery (ICA) and ear anomalies. Cytogenetic analysis revealed trisomy 14pter→characterized by spectral karyotyping (SKY) and found to have been derived from chromosome 1. No pathogenic mutation was detected in the CHD7 gene. This case apears to be the first report of a patient having both trisomy 14 with marker chromosome 1 and the CHARGE syndrome, and it presents a unique opportunity to observe the overlaping
Chang, Chih-Chun,Sun, Jen-Tang,Chen, Jing-Yuan,Chen, Yi-Ting,Li, Pei-Yu,Lee, Tai-Chen,Su, Ming-Jang,Wu, Jiann-Ming,Yen, Tzung-Hai,Chu, Fang-Yeh Asian Pacific Journal of Cancer Prevention 2016 Asian Pacific journal of cancer prevention Vol.17 No.3
Background: Potential disadvantages of blood transfusion during curative gastrectomy for gastric cancer have been reported, and the role of peri-operative transfusions remains to be ascertained. Thus, the aim of our study was to survey its impact in patients with gastric cancer undergoinging gastrectomy. Materials and Methods: Clinical data of patients receiving curative gastrectomy at Far Eastern Memorial Hospital were obtained. Findings for pre-operative anemia states, pre-, peri- and post-operative transfusion of red blood cell (RBC) products as well as post-operative complication events were collected for univariate analysis. Results: A total of 116 patients with gastric cancer received gastrectomy at Far Eastern Memorial Hospital from 2011 to 2014. Both pre-operative and intra- and post-operative transfusion of RBC products were markedly associated with post-operative infectious events (OR: 3.70, 95% CI: 1.43-9.58, P=0.002; OR: 8.20, 95% CI: 3.11-22.62, P<0.001, respectively). In addition, peri- and post-operative RBC transfusion was significantly associated with prolonged hospital stay from admission to discharge (OR: 8.66, 95% CI: 1.73-83.00, P=0.002) and post-operative acute renal failure (OR: 19.69, 95% CI: 2.66-854.56, P<0.001). Also, the overall survival was seemingly decreased by peri-operative RBC transfusion in our gastric cancer cases (P=0.078). Conclusions: Our survey indicated that peri-operative RBC transfusion could increase the risk of infectious events and acute renal failure post curative gastrectomy as well as worsen the overall survival in gastric cancer cases. Hence, unnecessary blood transfusion before, during and after curative gastrectomy should be avoided in patients with gastric cancer.