Pediatric pathology & molecular medicine最新文献_第7页

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: 10.1080/15227950307696

W. Hul

引用次数: 3

RECTAL PRIMITIVE NEUROECTODERMAL TUMOR 直肠原始神经外胚层肿瘤

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.5.391.398

R. Drut, M. Drut, C. Müller, A. Marrón

引用次数: 8

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: 10.1080/15227950307699

K. Chapman, M. Briggs, G. Mortier

引用次数: 24

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: 10.1080/15227950307726

R. Kurup, P. A. Kurup

{"title":"The isoprenoid pathway and the pathogenesis of Reye's syndrome.","authors":"R. Kurup, P. A. Kurup","doi":"10.1080/15227950307726","DOIUrl":"https://doi.org/10.1080/15227950307726","url":null,"abstract":"UNLABELLED The isoprenoid pathway produces three key metabolites: endogenous digoxin (regulator of neurotransmitter uptake), dolichol, and ubiquinone (free radical scavenger). Because a mitochondrial dysfunction has been described in Reye's syndrome, we thought it pertinent to assess the pathway in this disease. Since endogenous digoxin can regulate neurotransmitter transport, the pathway also was 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 HMG CoA reductase, magnesium, digoxin, dolichol, ubiquinone, tryptophan/tyrosine catabolic patterns, free radical, and lipid levels as well as (red blood cell) RBC Na(+)-K(+) ATPase activity were measured in the above mentioned groups. 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 also was 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 2 1","pages":"159-70"},"PeriodicalIF":0.0,"publicationDate":"2003-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"59824804","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

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/pdp.22.1.3.9

Elisabeth Bruder, Thomas Stallmach, Karin Peier, Andrea Superti-Furga, Paolo Vezzoni

{"title":"Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.","authors":"Elisabeth Bruder, Thomas Stallmach, Karin Peier, Andrea Superti-Furga, Paolo Vezzoni","doi":"10.1080/pdp.22.1.3.9","DOIUrl":"https://doi.org/10.1080/pdp.22.1.3.9","url":null,"abstract":"Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled borders. The post transplant biopsy revealed donor osteoclasts with ruffled borders and intracytoplasmic mineral crystals as proof of active bone resorption that had not yet been detectable radiographically. Osteopetrosis is a genetically heterogeneous disease. Definition at the DNA-level will enable comparison of treatment strategies and prenatal diagnosis. As shown in this patient, the autosomal recessive form caused by a TCIRG1 gene mutation may be amenable to bone marrow transplantation. Activity of donor osteoclasts can be demonstrated morphologically on biopsy, before bone remodeling becomes evident radiologically.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 1","pages":"3-9"},"PeriodicalIF":0.0,"publicationDate":"2003-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.1.3.9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22333798","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: 2

Variable expression of campomelic dysplasia in a father and his 46, XY daughter. 父亲及其46,xy女儿的变型异型增生表达。

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.1.37.46

Ravi Savarirayan, Stephen P Robertson, Agnes Bankier, John G Rogers

{"title":"Variable expression of campomelic dysplasia in a father and his 46, XY daughter.","authors":"Ravi Savarirayan, Stephen P Robertson, Agnes Bankier, John G Rogers","doi":"10.1080/pdp.22.1.37.46","DOIUrl":"https://doi.org/10.1080/pdp.22.1.37.46","url":null,"abstract":"Campomelic dysplasia (CD, MIM 114290) is characterised by widespread osseous abnormalities including bowing of the long bones, dysplasia of the cartilage of the tracheobronchial tree, and neurological abnormalities leading to high perinatal lethality. A majority of karyotypic males present as phenotypic females. The disorder has only recently been categorised as a dominantly transmitted entity after demonstration of heterozygous mutations in the SOX9 gene on chromosome 17q24.3 or translocations associated with breakpoints upstream of this gene. Despite this mode of transmission, only two well-documented instances of parent-child transmission of the disorder have been described. We report a man of normal intelligence with mild phenotypic and radiological appearances of CD. His first-born child, a phenotypic female with a 46,XY karyotype, presented with significantly more severe skeletal and neurological involvement. Parents of individuals with CD should be examined for minimal manifestations of the disorder, which may represent phenotypic variability in the syndrome or somatic mosaicism.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 1","pages":"37-46"},"PeriodicalIF":0.0,"publicationDate":"2003-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.1.37.46","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22333802","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: 25

The evolving definition of a chondrodysplasia? 软骨发育不良定义的演变?

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.1.47.52

William A Horton

引用次数: 6

Mouse models orthologous to FGFR3-related skeletal dysplasias. fgfr3相关骨骼发育不良小鼠模型。

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.1.87.103

Steven G Brodie, Chu-Xia Deng

引用次数: 21

SIALYL-Tn ANTIGEN DISTRIBUTION IN HELICOBACTER PYLORI CHRONIC GASTRITIS IN CHILDREN: AN IMMUNOHISTOCHEMICAL STUDY 儿童幽门螺杆菌慢性胃炎唾液酰- tn抗原分布:免疫组织化学研究

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.2.117.129

Marta C. Cohen, R. Drut, E. Cueto Rúa

{"title":"SIALYL-Tn ANTIGEN DISTRIBUTION IN HELICOBACTER PYLORI CHRONIC GASTRITIS IN CHILDREN: AN IMMUNOHISTOCHEMICAL STUDY","authors":"Marta C. Cohen, R. Drut, E. Cueto Rúa","doi":"10.1080/pdp.22.2.117.129","DOIUrl":"https://doi.org/10.1080/pdp.22.2.117.129","url":null,"abstract":"Sialyl-Tn antigen (STn) is a mucin-type carbohydrate normally present in goblet cells of small and large bowel. STn expression has been demonstrated to occur in complete and incomplete intestinal metaplasia as well as in many carcinomas but in no normal gastric cell. The aim of our present study was to evaluate the distribution of STn in Helicobacter pylori chronic gastritis (HpCG) of pediatric patients. Eighteen gastric biopsies from 15 children (mean age: 11.5 years) with HpCG, 9 gastric biopsies from 9 children without H. pylori infection, and 1 heterotopic gastric mucosa in Meckel's diverticulum were immunostained using the anti-STn antibody STn1 (18/18), NCL-MUC-1 (7/18), and NCL-MUC-2 (18/18) antibodies. Also, sulfated mucosubstances were investigated with the Alcian Blue-Periodic Acid Schiff (AB-PAS), pH 1.0 stain. Although with different intensity (weak in 5/18, moderate 9/18, and intense 4/18) all cases with HpCG exhibited STn immunoreactivity. The expression of STn was found to be located mainly to the supranuclear region of the epithelial cells at the foveolae and glandular necks, with occasional cells showing diffuse cytoplasmic staining. When reactivity was intense, it was for the most part found in the cells at the neck of the glands. The mucus out of the luminal border above the positive cells was usually also stained. MUC-1 was negative (2/7) or weakly positive (5/7) in a few surface mucous cells. MUC-2 was negative (16/18) or occasionally detected in some foveolar and surface cells (2/18). AB-PAS pH 1.0 revealed the presence of sulfomucins in the cytoplasm of isolated cells of gastric pits and glands of most cases (11/15). None of these findings was observed in the control group. We conclude that STn can be identified in gastric cells of pediatric patients with HpCG and that this does not correlate with other mucosubtances markers. Thefindings could indicate that minimal intestinal metaplasia takes place in children with HpCG.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 1","pages":"117 - 129"},"PeriodicalIF":0.0,"publicationDate":"2003-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.2.117.129","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"60772349","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: 13

DETECTION OF N-MYC GENE AMPLIFICATION IN NEUROBLASTOMA BY COMPARATIVE, IN SITU,AND REAL-TIME POLYMERASE CHAIN REACTION 通过比较、原位和实时聚合酶链反应检测神经母细胞瘤中n-myc基因扩增

Pediatric pathology & molecular medicine Pub Date : 2003-01-01 DOI: 10.1080/pdp.22.3.213.222

Zsombor Melegh, MD, MSc, Ildikó Bálint, MSc, Erika Tóth, MD, Erzsébet Csernák, MSc, Zoltán Szentirmay, MD, PhD, Kálmán Nagy, MD, PhD

{"title":"DETECTION OF N-MYC GENE AMPLIFICATION IN NEUROBLASTOMA BY COMPARATIVE, IN SITU,AND REAL-TIME POLYMERASE CHAIN REACTION","authors":"Zsombor Melegh, MD, MSc, Ildikó Bálint, MSc, Erika Tóth, MD, Erzsébet Csernák, MSc, Zoltán Szentirmay, MD, PhD, Kálmán Nagy, MD, PhD","doi":"10.1080/pdp.22.3.213.222","DOIUrl":"https://doi.org/10.1080/pdp.22.3.213.222","url":null,"abstract":"We have used semiquantitative comparative and real-time quantitative polymerase chain reactions (PCR) to detect n-myc gene-amplification in 20 frozen neuroblastoma biopsies and IMR 32 cell line to predict biological behavior of the tumors. Two primer pairs were used for the semiquantitative method to co-amplify a 520-bp fragment of the g -globin gene--used as a single copy reference standard--and a 258-bp fragment of the n-myc gene. After 30 cycles the PCR products were electrophoresed through an agarose gel and were compared to each other with use of a gel-densitometer. Real-time quantitative analyses were performed in a LightCycler instrument. A single primer pair was used to amplify a 120-bp fragment of the n-myc oncogene and a LC640-labeled fluorescent probe pair to detect the product. Calibration curve, set up from a serial dilution including samples with 1, 2, 10, 13, 25-fold n-myc oncogene amplification, was used for quantitative analysis. The semiquantitative method did not show distinct difference between tumor groups with no amplification and less than 10-fold amplification, whereas quantitative LightCycler analysis was able to detect even 2-fold amplification. Differentiated neuroblastomas seldom show n-myc amplification. In spite of this, we have found two partly differentiated tumor samples that contained n-myc amplification. In these cases in situ PCRs were performed to examine the tumor heterogeneity. We used biotinated ATP labeling and the same primer pair as for the LightCycler analysis. In both cases differentiated cells did not show n-myc gene amplification, whereas considerable amplification was detected in the neuroblasts.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 1","pages":"213 - 222"},"PeriodicalIF":0.0,"publicationDate":"2003-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.3.213.222","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"60772811","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