Pediatric pathology & molecular medicine最新文献_第6页

Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome. 中膜发育不良伴特异性自结滑膜闭锁:多发性先天性异常综合征的第三次观察和进一步描述。

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.1.23.35

Jules G Leroy, Lieve Claus, Brendan Lee, Geert R Mortier

引用次数: 6

DNA CONTENT AND PROLIFERATIVE ACTIVITY IN PEDIATRIC GENITOURINARY RHABDOMYOSARCOMA 小儿泌尿生殖系统横纹肌肉瘤的DNA含量和增殖活性

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.2.143.152

P. San Miguel-Fraile, R. Carrillo-Gijón, José Luis Rodríguez-Peralto, J. Antonio Ortiz-Rey, C. Álvarez-Álvarez, A. de la Fuente-Buceta

{"title":"DNA CONTENT AND PROLIFERATIVE ACTIVITY IN PEDIATRIC GENITOURINARY RHABDOMYOSARCOMA","authors":"P. San Miguel-Fraile, R. Carrillo-Gijón, José Luis Rodríguez-Peralto, J. Antonio Ortiz-Rey, C. Álvarez-Álvarez, A. de la Fuente-Buceta","doi":"10.1080/pdp.22.2.143.152","DOIUrl":"https://doi.org/10.1080/pdp.22.2.143.152","url":null,"abstract":"Most of the studies have reported that cases of pediatric rhabdomyosarcoma (RMS) with hyperdiploid DNA and low cellular proliferative activity have better outcomes. The aim of our study was to evaluate the possible clinical relevance of DNA ploidy and proliferative activity in childhood genitourinary RMS. Twelve childhood genitourinary RMS cases were reexamined histologically and correlated with clinical features and patient survival. DNA analysis was performed on cytospin single-cell preparations obtained from the paraffin-embedded tissue blocks. MIB-1 was the proliferative marker used on paraffin sections. All patients were male with a mean age at diagnosis of 65 months. There were 5 tumors on the bladder, 5 on the pàratesticular region, and 2 on the prostate. All cases were treated with multimodality therapy using the protocols proposed by the International Society of Pediatric Oncology. The following subtypes of RMS were recognized: embryonal ( n =6), spindle cell ( n =4), and botryoid ( n =2). DNA hyperdiploid was detected in 11 tumors (92%) and high MIB-1 index (>19%) in 4 cases (33%). Now, 10 patients are alive without evidence of disease and 2 patients are alive with evidence of disease. Our data suggested that childhood RMS of the genitourinary tract are preponderantly DNA hyperdiploid and have low cellular proliferative activity. It is also interesting that 83% of our genitourinary pediatric RMS patients are alive. As consequence of this study, we propose that DNA content and proliferative activity is a useful method to supplement findings in children with RMS.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 1","pages":"143 - 152"},"PeriodicalIF":0.0,"publicationDate":"2003-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.2.143.152","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"60773014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

HYPOTHALAMIC DIGOXIN-MEDIATED MODEL FOR TRISOMY 21 地高辛介导的21三体下丘脑模型

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.5.411.422

Ravi Kumar Kurup, Parameswara Achutha Kurup

引用次数: 2

BURKITT'S LYMPHOMA OF THE SCAPULA 肩胛骨的伯基特淋巴瘤

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.4.271.276

A. Bittencourt, I. Araújo, E. G. Carvalho, M. Vieira, M. Hummel

引用次数: 1

CASE REPORT: CONGENITAL SALIVARY GLAND ANALAGE TUMOR PRESENTING WITH NEONATAL RESPIRATORY DISTRESS 一例报告:以新生儿呼吸窘迫为表现的先天性唾液腺瘘瘤

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.3.209.211

Salah Ahmed Ibrahim, FRCP, MD, Haydar Abubakr Abdalla, FRCS, Ahmed Mohammed El Hassan, FRCPath, PhD

引用次数: 6

THE ISOPRENOID PATHWAY AND THE PATHOGENESIS OF REYE'S SYNDROME 类异戊二烯途径与雷氏综合征的发病机制

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.5.423.434

Ravi Kumar Kurup, Parameswara Achutha Kurup

{"title":"THE ISOPRENOID PATHWAY AND THE PATHOGENESIS OF REYE'S SYNDROME","authors":"Ravi Kumar Kurup, Parameswara Achutha Kurup","doi":"10.1080/pdp.22.5.423.434","DOIUrl":"https://doi.org/10.1080/pdp.22.5.423.434","url":null,"abstract":"The isoprenoid pathway produces three key metabolites: endogenous digoxin (regulator of neurotransmitter uptake), dolichol, and ubiquinone (free radical scavenger). Since a mitochondrial dysfunction has been described in Reye's syndrome, it was considered pertinent to assess the pathway in this disease. Since endogenous digoxin can regulate neurotransmitter transport, the pathway was also assessed in patients with right hemispheric, left hemispheric, and bihemispheric dominance to find out the role of hemispheric dominance in its pathogenesis. The plasma/serum activity of hydroxy methyl glutaryl (HMG) coenzyme A (CoA) reductase, magnesium, digoxin, dolichol, ubiquinone, tryptophan/tyrosine catabolic patterns, and free radical and lipid levels, as well as RBC Na + , K + -ATPase activity, were measured in the groups mentioned. Results: In the patient group as well as in individuals with right hemispheric dominance similar patterns were obtained. There was elevated digoxin and dolichol levels with low levels of ubiquinone in patients with Reye's syndrome as well as in those with right hemispheric dominance. The serum magnesium and RBC Na + , K + -ATPase activity were reduced. There was also an increase in tryptophan catabolites and a reduction in tyrosine catabolites as well as increased free radical levels. Reye's syndrome is associated with an upregulated isoprenoid pathway, elevated hypothalamic digoxin secretion, and right hemispheric chemical dominance.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 1","pages":"423 - 434"},"PeriodicalIF":0.0,"publicationDate":"2003-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.5.423.434","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"60773497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Recent progress in the molecular genetics of sclerosing bone dysplasias 硬化性骨发育不良分子遗传学研究进展

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.1.11.22

W. Van Hul

引用次数: 1

Grebe dysplasia and the spectrum of CDMP1 mutations. Grebe发育不良和CDMP1突变谱。

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.1.77.85

Christiane Stelzer, Andreas Winterpacht, Jürgen Spranger, Bernhard Zabel

引用次数: 25

Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. TCIRG1基因突变引起的常染色体隐性恶性骨质疏松症的破骨细胞形态。

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/15227950307700

E. Bruder, T. Stallmach, Karin Peier, A. Superti-Furga, P. Vezzoni

引用次数: 10

Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. 综述:多发性骨骺发育不良的临床变异性和遗传异质性。

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.1.53.75

Kathryn L Chapman, Michael D Briggs, Geert R Mortier

引用次数: 5