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Nina Booken Sergij Goerdt Claus‐Detlev Klemke 《Journal der Deutschen Dermatologischen Gesellschaft》2012,10(5):331-339
Background: Primary cutaneous CD30+ anaplastic large cell lymphomas (C‐ALCL) have indolent clinical behavior with an estimated 5‐year survival rate of 95%. The clinical features and disease courses of C‐ALCL identified in the lymphoma registry of Mannheim University hospital are described in the following. Patients and methods: All C‐ALCL patients identified in the database were analyzed in regard to clinical picture, histology, immunohistochemistry, molecular biology, staging, therapy, follow‐up, and outcome. Results: 14 C‐ALCL patients were identified. The mean age was 69 years and 57% were men. Solitary skin lesions in one anatomical region were seen in 12 patients upon initial diagnosis. Two patients presented with multiple lesions at different anatomical sites. In 2 patients there was specific lymph node involvement. In one C‐ALCL patient, follow‐up over 17 months revealed extracutaneous infiltration. Half of the patients relapsed and 36% had multiple episodes. The majority of our patients were treated with surgical excision followed by electron beam radiotherapy. The 5‐year survival rate was 93% in C‐ALCL. Conclusions: The clinical presentation of C‐ALCL varies. Staging procedures and a close clinical pathological correlation at initial diagnosis are essential. Due to a high rate of relapses and the possibility of developing extranodal manifestations over the course of the disease, close follow‐up is recommended. 相似文献
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Contactins are a group of cell adhesion molecules that are mainly expressed in the brain and play pivotal roles in the organization of axonal domains, axonal guidance, neuritogenesis, neuronal development, synapse formation and plasticity, axo-glia interactions and neural regeneration. Contactins comprise a family of six members. Their absence leads to malformed axons and impaired nerve conduction. Contactin mediated protein complex formation is critical for the organization of the axon in early central nervous system development. Mutations and differential expression of contactins have been identified in neuro-developmental or neurological disorders. Taken together, contactins are extensively studied in the context of nervous system development. This review summarizes the physiological roles of all six members of the Contactin family in neurodevelopment as well as their involvement in neurological/neurodevelopmental disorders. 相似文献
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Callén E Casado JA Tischkowitz MD Bueren JA Creus A Marcos R Dasí A Estella JM Muñoz A Ortega JJ de Winter J Joenje H Schindler D Hanenberg H Hodgson SV Mathew CG Surrallés J 《Blood》2005,105(5):1946-1949
Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption. This mutation appeared specific for Spanish Gypsies as it is not found in other Gypsy patients with FA from Hungary, Germany, Slovakia, and Ireland. Haplotype analysis showed that Spanish Gypsy patients all share the same haplotype. Our data thus suggest that the high incidence of FA among Spanish Gypsies is due to an ancestral founder mutation in FANCA that originated in Spain less than 600 years ago. The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer. 相似文献
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Boris Klempa Tatjana Avsic-Zupanc Jan Clement Tamara K. Dzagurova Heikki Henttonen Paul Heyman Ferenc Jakab Detlev H. Kruger Piet Maes Anna Papa Evgeniy A. Tkachenko Rainer G. Ulrich Olli Vapalahti Antti Vaheri 《Archives of virology》2013,158(3):521-529
Dobrava-Belgrade virus (DOBV) is a human pathogen that has evolved in, and is hosted by, mice of several species of the genus Apodemus. We propose a subdivision of the species Dobrava-Belgrade virus into four related genotypes – Dobrava, Kurkino, Saaremaa, and Sochi – that show characteristic differences in their phylogeny, specific host reservoirs, geographical distribution, and pathogenicity for humans. 相似文献
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Chantal Stoepker Eunike Velleuer Richard Friedl Birgit Gottwald‐Mühlhauser Johan P. de Winter Detlev Schindler 《Human mutation》2013,34(1):93-96
Fanconi anemia (FA) is a rare genetic disorder characterized by congenital malformations, progressive bone marrow failure (BMF), and susceptibility to malignancies. FA is caused by biallelic or hemizygous mutations in one of 15 known FA genes, whose products are involved in the FA/BRCA DNA damage response pathway. Here, we report on a patient with previously unknown mutations of the most recently identified FA gene, SLX4/FANCP. Whole exome sequencing (WES) revealed a nonsense mutation and an unusual splice site mutation resulting in the partial replacement of exonic with intronic bases, thereby removing a nuclear localization signal. Immunoblotting detected no residual SLX4 protein, which was consistent with abrogated interactions with XPF/ERCC1 and MUS81/EME1. This cellular finding did not result in a more severe clinical phenotype than that of previously reported FA‐P patients. Our study additionally exemplifies the versatility of WES for the detection of mutations in heterogenic disorders such as FA. 相似文献
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Stavros M Stivaros Robert Alston Neville B Wright Kate Chandler Denise Bonney Robert F Wynn Andrew M Will Maqsood Punekar Sean Loughran John-Paul Kilday Detlev Schindler Leena Patel Stefan Meyer 《The British journal of radiology》2015,88(1056)
Objective:
Fanconi anaemia (FA) is an inherited disease associated with congenital and developmental abnormalities resulting from the disruption of a multigenic DNA damage response pathway. This study aimed to define the MRI appearances of the brain in patients with FA in correlation with their genetic and clinical features.Methods:
A review of the brain MRI in 20 patients with FA was performed. Pituitary size and frequencies of the radiological findings of individuals with FA and age-matched controls were determined.Results:
Abnormalities were identified in 18 (90%) patients with FA, the commonest being a small pituitary (68%, p < 0.01 females and p < 0.001 males). In five cases (25%, p = 0.02), the pituitary morphology was also abnormal. Posterior fossa abnormalities were seen in six cases (30%, p = 0.01) including Chiari I malformation (n = 3), Dandy–Walker variant (n = 2) and cerebellar atrophy (n = 2). Six patients (30%, p = 0.01) had morphological structural variation of the corpus callosum (CC).Conclusion:
The incidence of central nervous system (CNS) abnormalities in FA is higher than previously reported, with a midline predominance that points to impact in the early stages of CNS development. MRI brain imaging is important for endocrine assessment and pre-transplant evaluation and can make an important contribution to clinical decision-making.Advances in knowledge:
The incidence of brain structural abnormalities in FA is higher than previously reported, with abnormalities of the posterior fossa, CC and pituitary being common. There is an association with gender and reduction in pituitary size which does not strongly correlate with biochemically evident endocrine abnormality. 相似文献20.
Miche E Radzewitz A Notohamiprodjo G Baller D Kloppe A Eckert S Gleichmann U 《European journal of heart failure》2002,4(4):431-438
BACKGROUND: The rate constant for global fatty acid influx (k(1)) was studied in 12 male patients with dilated cardiomyopathy (DCM). METHOD: 10 normal subjects served as controls. 201-Thallium (201TI) and [123I]-phenyl-pentadecanoic acid (IPPA) were administered during bicycle exercise under fasting conditions. RESULTS: All patients showed non-homogeneous tracer uptake defects for 201TI and IPPA. k(1) was significantly higher in DCM patients than controls. k(1) showed significant inverse correlation between cardiac index, left-ventricular ejection fraction, left-ventricular enddiastolic pressure and echocardiographic left-ventricular ejection fraction. CONCLUSION: We presume that an increased regional rate constant of IPPA influx into the myocardial tissue in patients with DCM reflects a compensatory mechanism of altered myocardium. 相似文献