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Pediatric pathology & molecular medicine最新文献

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Pathology teach and tell: central nervous system atypical teratoid/rhabdoid tumor. 病理教诉:中枢神经系统非典型畸胎瘤/横纹肌样瘤。
Pediatric pathology & molecular medicine Pub Date : 2003-09-01
Zekai Avci, Ibrahim Safa Kaya, A Selman Doğukan, Ozgür Aydin, Ozgür Ismailoğlu
{"title":"Pathology teach and tell: central nervous system atypical teratoid/rhabdoid tumor.","authors":"Zekai Avci,&nbsp;Ibrahim Safa Kaya,&nbsp;A Selman Doğukan,&nbsp;Ozgür Aydin,&nbsp;Ozgür Ismailoğlu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Atypical teratoid/rhabdoid tumor (AT/RT) is extremely malignant, highly aggressive primitive central nervous systemneoplasm of infancy with very poor prognosis. Histologically, AT/RT is defined as a polymorphous neoplasm often featuring rhabdoid, PNET, mesenchymal, and epithelial components. We report the clinical history, radiological, and pathological findings in a child affected bycentral nervous system AT/RT.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 5","pages":"443-7"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24140525","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
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 : 2003-09-01
Ravi Kumar Kurup, Parameswara Achutha Kurup
{"title":"Hypothalamic digoxin-mediated model for trisomy 21.","authors":"Ravi Kumar Kurup,&nbsp;Parameswara Achutha Kurup","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The isoprenoid pathway related cascade was assessed in trisomy 21. Membrane Na+, K(+)-ATPase activity, serum magnesium, and ubiquinone were decreased while hydroxy methyl glutaryl CoA (HMG) coenzyme A (CoA) reductase activity, serum digoxin, and dolichol levels were increased in trisomy 21. There were increased levels of tryptophan catabolites--nicotine, strychnine, quinolinic acid, and serotonin--and decreased levels of tyrosine catabolites--dopamine, noradrenaline, and morphine in trisomy 21. There was an increase in dolichol levels, carbohydrate residues of glycoproteins, glycolipids, total/individual glycosaminoglycan (GAG) fractions, and lysosomal enzymes in trisomy 21. Reduced levels of ubiquinone, reduced glutathione, and free radical scavenging enzymes as well as increased lipid peroxidation products and nitric oxide were noticed in trisomy 21. Hypothalamic digoxin and a disordered isoprenoid pathway are important in the pathogenesis of trisomy 21.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 5","pages":"411-22"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138900","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
The confused identity of Cantrell's pentad: ectopia cordis is related either to thoracoschisis or to a diaphragmatic hernia with an omphalocele. Cantrell's pentad的混淆身份:心异位可能与胸裂或膈疝合并脐膨出有关。
Pediatric pathology & molecular medicine Pub Date : 2003-09-01
Belinda R Davies, Marco Duran
{"title":"The confused identity of Cantrell's pentad: ectopia cordis is related either to thoracoschisis or to a diaphragmatic hernia with an omphalocele.","authors":"Belinda R Davies,&nbsp;Marco Duran","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>To find out if Cantrell's pentad is a single entity, four cases of ectopia cordis were studied and compared with cases in the literature. Our cases had the heart outside the thorax and had two to four other features of the association. In one case the thoracic organs had apparently escaped through a diaphragmatic hernia into an omphalocele, and in the others via a thoracoschisis with an abdominal defect, either a supraumbilical hernia or a gastroschisis. According to these cases and those from the literature, it is proposed that there are two major mechanisms leading to ectopia cordis: (1) a reversed diaphragmatic hernia in the case of a large diaphragmatic defect and an omphalocele, and (2) through a sterno-costal defect, with gastroschisis or a supraumbililical abdominal defect. As omphaloceles and major diaphragmatic defects are probably pathogenetically distinct from thoraco- and thoracogastroschisis, it is important to distinguish these groups of anomalies, rather than be concerned as to their relationship with Cantrell's pentad.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 5","pages":"383-90"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138961","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
Nonfunctioning adrenocortical carcinoma in a child. 儿童无功能肾上腺皮质癌一例。
Pediatric pathology & molecular medicine Pub Date : 2003-09-01 DOI: 10.1080/pdp.22.5.405.410
Turan Kanmaz, Savas Demirbilek, Ilyas Ozardali, Mukerrem Safali, Sefik Guran, Selcuk Yucesan
{"title":"Nonfunctioning adrenocortical carcinoma in a child.","authors":"Turan Kanmaz,&nbsp;Savas Demirbilek,&nbsp;Ilyas Ozardali,&nbsp;Mukerrem Safali,&nbsp;Sefik Guran,&nbsp;Selcuk Yucesan","doi":"10.1080/pdp.22.5.405.410","DOIUrl":"https://doi.org/10.1080/pdp.22.5.405.410","url":null,"abstract":"<p><p>Pediatric nonfunctioning adrenocortical carcinoma is a very rare tumor. A 4-year-old girl was admitted complaining of abdominal pain. Physical examination revealed an abdominal mass. There were no clinical or laboratory signs of hormonal abnormality. Abdominal ultrasonography revealed a polylobular mass. Intravenous pyelography showed marked compression of the kidney by a tumor. The tumor was excised together with the right kidney. The histopathological diagnosis was adrenocortical carcinoma. Although there is a greater incidence of germ line p53 mutations with adrenocortical carcinoma, the tumor suppressor gene p53 was not mutated in our case. The girl died 2 months after surgery from complications of chemotherapy.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 5","pages":"405-10"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.5.405.410","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138897","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
Congenital Rosai-Dorfman disease without lymphadenopathy. 先天性Rosai-Dorfman病，无淋巴结病。
Pediatric pathology & molecular medicine Pub Date : 2003-09-01 DOI: 10.1080/pdp.22.5.399.403
Haruko Iwabuchi, Toshio Kakihara, Atsushi Tanaka, Makoto Uchiyama, Hiroyuki Shibuya, Hajime Umezu
{"title":"Congenital Rosai-Dorfman disease without lymphadenopathy.","authors":"Haruko Iwabuchi,&nbsp;Toshio Kakihara,&nbsp;Atsushi Tanaka,&nbsp;Makoto Uchiyama,&nbsp;Hiroyuki Shibuya,&nbsp;Hajime Umezu","doi":"10.1080/pdp.22.5.399.403","DOIUrl":"https://doi.org/10.1080/pdp.22.5.399.403","url":null,"abstract":"<p><p>Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder with massive lymphadenopathy. We here describe RDD of a neonate who presented with paleness and hepatosplenomegaly but not lymph-node swelling. Routine laboratory studies showed anemia, thrombocytopenia, and an elevated value of gamma-glutamyl transpeptidase. Histological examination of the liver revealed a proliferation of histiocytes with abundant eosinophilic cytoplasm, which were positive for S-100 protein and CD68 but not CD1a and did not reveal Birbeck granules. Radiological studies showed hepatosplenomegaly and a narrowing of the hepatic vein, which might have contributed to hypersplenism resulting in anemia and thrombocytopenia. This case is thought to be congenital RDD without lymphadenopathy.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 5","pages":"399-403"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.5.399.403","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138964","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: 8
Pathology teach and tell: nasopharyngeal angiofibroma. 病理讲解:鼻咽血管纤维瘤。
Pediatric pathology & molecular medicine Pub Date : 2003-07-01 DOI: 10.1080/pdp.22.4.363.367
M Vinaitheerthan, S Gunesekaran, Enid Gilbert-Barness
{"title":"Pathology teach and tell: nasopharyngeal angiofibroma.","authors":"M Vinaitheerthan,&nbsp;S Gunesekaran,&nbsp;Enid Gilbert-Barness","doi":"10.1080/pdp.22.4.363.367","DOIUrl":"https://doi.org/10.1080/pdp.22.4.363.367","url":null,"abstract":"An 18-year-old male presented with right nasal obstruction for the past 2 months.Within the past few weeks, he had one severe episode of epistaxis. There was no history of trauma to the nose. Computerized tomography (CT) scan showed an enhancing mass involving the right nasal cavity ¢lling the nasal vault (Figures 1 and 2).The mass appeared to arise from the right pterygopalatine fossa extending into the ethmoid and right sphenoid sinus. A section of the biopsy of the lesion is shown in Figures 3 and 4.What is your diagnosis?","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 4","pages":"363-7"},"PeriodicalIF":0.0,"publicationDate":"2003-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.4.363.367","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138082","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
Classification of M nontypeable group A streptococcus with the use of field inversion gel electrophoresis. 用场反转凝胶电泳对M型不可分A群链球菌进行分类。
Pediatric pathology & molecular medicine Pub Date : 2003-07-01 DOI: 10.1080/pdp.22.4.303.309
Judith M Martin, Karen A Barbadora, Ellen R Wald, Michael Green
{"title":"Classification of M nontypeable group A streptococcus with the use of field inversion gel electrophoresis.","authors":"Judith M Martin,&nbsp;Karen A Barbadora,&nbsp;Ellen R Wald,&nbsp;Michael Green","doi":"10.1080/pdp.22.4.303.309","DOIUrl":"https://doi.org/10.1080/pdp.22.4.303.309","url":null,"abstract":"<p><p>Group A streptococcus (GAS) are traditionally classified based on M and T protein antigens. However, many strains do not react with available M antisera and are classified as M nontypeable (M NT). M and T typing, field inversion gel electrophoresis (FIGE), and 5' emm gene sequencing were performed on 24 M NT GAS isolates. FIGE patterns of the M NT isolates were compared by visual inspection and by computer analysis with the patterns of 139 isolates representing 72 M-types of GAS. Seven different FIGE patterns (I-VII) were seen among the M NT isolates. FIGE patterns I and III were identical or closely related to patterns seen with M12 and M22 isolates. The computer analysis determined the following relationships: pattern IV to M5, pattern VI to M61, and pattern VII to M59. Thus, the emm gene sequence correlated with the computer analysis of the FIGE pattern for each isolate. FIGE can be useful to help distinguish clinical isolates of GAS in an epidemiological study.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 4","pages":"303-9"},"PeriodicalIF":0.0,"publicationDate":"2003-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.4.303.309","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138656","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
Burkitt's lymphoma of the scapula. 肩胛骨的伯基特淋巴瘤。
Pediatric pathology & molecular medicine Pub Date : 2003-07-01
Achiléa L Bittencourt, Iguaracyra Araujo, Eni G Carvalho, Maria das Graças S Vieira, Michael Hummel
{"title":"Burkitt's lymphoma of the scapula.","authors":"Achiléa L Bittencourt,&nbsp;Iguaracyra Araujo,&nbsp;Eni G Carvalho,&nbsp;Maria das Graças S Vieira,&nbsp;Michael Hummel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Burkitt's lymphoma may involve the maxilla or mandible, but to date, there has been no reference in the literature to scapular involvement by this tumor. This article describes the case of a 9-year-old child who presented with a huge tumor involving the right shoulder with osteolytic and sclerotic lesions in the scapula. The histopathological findings were suggestive of Burkitt's lymphoma, and the immunohistochemical findings discard a lymphoblastic lymphoma or plasmablastic lymphoma. In addition, in situ hybridization for Epstein-Barr virus encoded small nuclear RNA (EBER) was positive. Although the child also presented a cervical lymphadenopathy, the fact that Burkitt's lymphoma is generally extranodal, the marked swelling of the shoulder, and the extensive involvement of the bone strongly argue that this tumor had its origin in the scapula. This case demonstrates the importance of including Burkitt's lymphoma in the differential diagnosis of lymphoma involving bones in children.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 4","pages":"271-6"},"PeriodicalIF":0.0,"publicationDate":"2003-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138652","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
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. 硫酸盐转运体软骨发育不良中巯基化合物衍生的体外蛋白多糖硫酸化。
Pediatric pathology & molecular medicine Pub Date : 2003-07-01 DOI: 10.1080/pdp.22.4.311.321
Antonio Rossi, Giuseppe Cetta, Rocco Piazza, Jacky Bonaventure, Beat Steinmann, Andrea Supereti-Furga
{"title":"In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.","authors":"Antonio Rossi,&nbsp;Giuseppe Cetta,&nbsp;Rocco Piazza,&nbsp;Jacky Bonaventure,&nbsp;Beat Steinmann,&nbsp;Andrea Supereti-Furga","doi":"10.1080/pdp.22.4.311.321","DOIUrl":"https://doi.org/10.1080/pdp.22.4.311.321","url":null,"abstract":"<p><p>Mutations in a sulfate-chloride antiporter gene, the diastrophic dysplasia sulfate transporter (DTDST), have been associated with a family of skeletal dysplasias including recessive multiple epiphyseal dysplasia, diastrophic dysplasia (DTD), atelosteogenesis type 2, and achondrogenesis type 1B (ACG1B). DTDST function is crucial for uptake of extracellular sulfate required for proteoglycan (PG) sulfation; the tissue-specific expression of the clinical phenotype may be the consequence of the high rate of PG synthesis in chondrocytes and the ensuing high sulfate requirement. We have studied the contribution of cysteine and its derivatives to PG sulfation in fibroblast and chondrocyte cultures from sulfate transporter dysplasia patients. Incubation of ACG1B fibroblasts in medium containing different concentrations of cystine indicated partial recovery of PG sulfation as measured by HPLC disaccharide analysis of chondroitin sulfate PGs; similar results were observed after incubation with N-acetylcysteine. When both compounds were tested in primary chondrocytes from a DTD patient, partial rescue of PG sulfation was observed, suggesting that the metabolic pathways producing cytoplasmic sulfate from thiols are also active in this cell type.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 4","pages":"311-21"},"PeriodicalIF":0.0,"publicationDate":"2003-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.4.311.321","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138657","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: 12
Warfarin embryopathy. 华法林胚胎病。
Pediatric pathology & molecular medicine Pub Date : 2003-07-01 DOI: 10.1080/pdp.22.4.277.283
Kiat Yeong Chan, Enid Gilbert-Barness, George Tiller
{"title":"Warfarin embryopathy.","authors":"Kiat Yeong Chan,&nbsp;Enid Gilbert-Barness,&nbsp;George Tiller","doi":"10.1080/pdp.22.4.277.283","DOIUrl":"https://doi.org/10.1080/pdp.22.4.277.283","url":null,"abstract":"<p><p>A 34-year-old gravida 2 para 1 (1001) mother was on prophylactic anticoagulation therapy because of pulmonary emboli postabdominal surgery. The pregnancy was terminated at 25 weeks' gestation after ultrasound examination showed a mild hydrocephalus and a cardiac structural defect. Congenital abnormalities of the delivered fetus included nasal hypoplasia, earfold atresia, bilobled lungs, coarctation of the aorta, ventricular septal defect, gastrochisis, and radiographic skeletal stippling. The radiological and physical findings were consistent with warfarin embryopathy.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 4","pages":"277-83"},"PeriodicalIF":0.0,"publicationDate":"2003-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.4.277.283","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138653","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
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