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1.
Leukemia ; 28(6): 1259-70, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24336126

RESUMO

Transient leukemia (TL) is evident in 5-10% of all neonates with Down syndrome (DS) and associated with N-terminal truncating GATA1 mutations (GATA1s). Here we report that TL-cell clones generate abundant eosinophils in a substantial fraction of patients. Sorted eosinophils from patients with TL and eosinophilia carried the same GATA1s mutations as sorted TL blasts, consistent with their clonal origin. TL blasts exhibited a genetic program characteristic of eosinophils and differentiated along the eosinophil lineage in vitro. Similarly, ectopic expression of Gata1s, but not Gata1, in wild-type CD34(+)-hematopoietic stem and progenitor cells induced hyperproliferation of eosinophil promyelocytes in vitro. Although GATA1s retained the function of GATA1 to induce eosinophil genes by occupying their promoter regions, GATA1s was impaired in its ability to repress oncogenic MYC and the pro-proliferative E2F transcription network. Chromatin Immunoprecipitation Sequencing (ChIP-seq) indicated reduced GATA1s occupancy at the MYC promoter. Knockdown of MYC, or the obligate E2F-cooperation partner DP1, rescued the GATA1s-induced hyperproliferative phenotype. In agreement, terminal eosinophil maturation was blocked in Gata1(Δe2) knockin mice, exclusively expressing Gata1s, leading to accumulation of eosinophil precursors in blood and bone marrow. These data suggest a direct relationship between the N-terminal truncating mutations of GATA1 and clonal eosinophilia in DS patients.


Assuntos
Proliferação de Células , Síndrome de Down/patologia , Eosinofilia/patologia , Fator de Transcrição GATA1/genética , Leucemia Mieloide Aguda/patologia , Mutação/genética , Animais , Apoptose , Diferenciação Celular , Síndrome de Down/complicações , Síndrome de Down/genética , Eosinofilia/etiologia , Células-Tronco Hematopoéticas/metabolismo , Células-Tronco Hematopoéticas/patologia , Humanos , Lactente , Recém-Nascido , Leucemia Mieloide Aguda/complicações , Leucemia Mieloide Aguda/genética , Camundongos , RNA Mensageiro/genética , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Células Tumorais Cultivadas
2.
Klin Padiatr ; 224(3): 153-5, 2012 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-22513796

RESUMO

Mutations of the hematopoietic transcription factor GATA1 (GATA1s) are pathognomonic in newborn with transient leukemia and children with Down syndrome and myeloid leukemia (ML-DS). Both TL and ML-DS can also occur in children with trisomy 21 mosaic.Between 2002 and 2011, 15 newborns and infants were diagnosed with DS mosaic. 9 of them presented with TL and 8 children suffered from ML-DS; 2 of them with a history of TL. In children without stigmata the special morphology and immunophenotype of blasts triggered the screening for GATA1 mutation and trisomy 21 mosaic.All newborns with TL achieved complete remission (CR). Due to clinical symptoms caused by the leukemic blasts, in 3 children low-dose cytarabine was applied. 1 patient died due to cardiac defect. In all patients GATA 1 s was confirmed. 6 children with ML-DS were initially treated according the AML-BFM protocol. After ML-DS was confirmed, therapy was continued with the intensity reduced schedule according to the ML-DS 2006 protocol. All children are still in CR (follow-up 1.8-7 years, median 2.7 yrs). 2 children with unknown trisomy 21 mosaic were diagnosed as acute megakaryoblastic leukemia (AMKL) and treated according the high risk arm of the AML-BFM 2004 including allogeneic stem cell transplantation in one child). GATA1 mutation was identified retrospectively. Both children are alive in CR.GATA1s associated leukemia has to be excluded in all young children with AMKL (<5 years old) to prevent overtreatment. Treatment with reduced intensity seems sufficient in children trisomy 21 mosaic and ML-DS.


Assuntos
Síndrome de Down/genética , Fator de Transcrição GATA1/genética , Leucemia Megacarioblástica Aguda/genética , Leucemia Mieloide Aguda/genética , Mosaicismo , Mutação , Mielopoese/genética , Transtornos Mieloproliferativos/genética , Antimetabólitos Antineoplásicos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Pré-Escolar , Terapia Combinada , Citarabina/uso terapêutico , Síndrome de Down/diagnóstico , Feminino , Seguimentos , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Recém-Nascido , Leucemia Megacarioblástica Aguda/diagnóstico , Leucemia Megacarioblástica Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/tratamento farmacológico , Masculino , Transtornos Mieloproliferativos/diagnóstico , Transtornos Mieloproliferativos/tratamento farmacológico
3.
Leukemia ; 25(11): 1704-10, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21647152

RESUMO

Mutations in the NADP(+)-dependent isocitrate dehydrogenase genes 1 and 2 (IDH1 and IDH2) have recently been found in adult acute myeloid leukemia (AML) patients with a prevalence rising up to 33%. To investigate the frequency of IDH1/2 mutations in pediatric AML, we characterized the mutational hotspot (exon 4) of these genes in diagnostic samples from 460 pediatric AML patients. Our analysis identified somatic IDH1/2 mutations in 4% of cases (IDH1 R132 n=8; IDH2 R140 n=10) and the minor allele of single-nucleotide polymorphism (SNP) rs11554137 in 47 children (10.2%). IDH mutations were associated with an intermediate age (P=0.008), FAB M1/M2 (P=0.013) and nucleophosmin1 mutations (P=0.001). In univariate analysis, IDH(mutated) compared with IDH(wildtype) patients showed a significantly improved overall survival (OS; P=0.032) but not event-free survival (EFS; P=0.14). However, multivariate analysis did not show independent prognostic significance. Children with at least one minor allele of IDH1 SNP rs11554137 had similar EFS (P=0.27) and OS (P=0.62) compared with major allele patients. Gene expression profiles of 12 IDH(mutated) were compared with 201 IDH(wildtype) patients to identify differentially expressed genes and pathways. Although only a small number of discriminating genes were identified, analysis revealed a deregulated tryptophan metabolism, and a significant downregulation of KYNU expression in IDH(mutated) cases.


Assuntos
Isocitrato Desidrogenase/genética , Leucemia Mieloide Aguda/patologia , Mutação , Criança , Perfilação da Expressão Gênica , Humanos , Leucemia Mieloide Aguda/epidemiologia , Leucemia Mieloide Aguda/genética , Polimorfismo de Nucleotídeo Único , Prevalência , Prognóstico , Reação em Cadeia da Polimerase Via Transcriptase Reversa
5.
Neuropediatrics ; 40(5): 234-8, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20221960

RESUMO

Observations of extreme unilateral widening of Virchow-Robin spaces (VRS) are rare and hitherto confined to adult, mainly old-aged patients. Magnetic resonance imaging (MRI) was performed in two unrelated boys aged 3 years with developmental coordination disorders. In one of these patients, follow-up MRI and diffusion tensor imaging (DTI) were carried out 5 years later. In both boys, MRI incidentally revealed numerous intracerebral cysts strictly confined to one hemisphere. Localization, size, shape, and signal isointensity to cerebrospinal fluid indicated unilateral marked widening of VRS. In one patient, follow-up investigation after 5 years showed unchanged dilation of VRS on MRI, but mild facial hemihypertrophy, ipsilateral to the widened VRS. DTI indicated displacement rather than disruption of fiber tracks adjacent to the dilated VRS. Unilateral widening of VRS may be detected fortuitously on neuroimaging already in early childhood.


Assuntos
Encefalopatias/patologia , Encefalopatias/fisiopatologia , Lateralidade Funcional/fisiologia , Espaço Subaracnóideo/patologia , Criança , Pré-Escolar , Imagem de Difusão por Ressonância Magnética/métodos , Dilatação Patológica/diagnóstico , Eletroencefalografia/métodos , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino
6.
Z Gastroenterol ; 43(9): 1031-9, 2005 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-16142611

RESUMO

INTRODUCTION: Crisis management as well as realistic emergency situations can be trained in the new developed simulation workshop "Gastrointestinal Endoscopy and Crisis Resource Management" by combining a full-scale simulator and the Erlanger Endoscopy Trainer. The aim of the current study was to evaluate the efficiency of the newly developed simulation workshop. METHODS: Endoscopists with more than 12 months experience can train their endoscopic skills and crisis resource management with the help of different simulators. In addition, two different scenarios (GI bleeding with significant blood loss and sedation overdoses) embedded in a realistic surrounding (emergency room) have to be managed by the participants. Vital parameters, endoscopic skills, as well as personal interactions were recorded and graded. RESULTS: 100 participants took part in the newly developed workshop (between June and December 2003). The participants showed a significantly better endoscopic performance and a significantly better crisis management after the standardized training program. CONCLUSIONS: Simulation training plays an essential role in aviation and minimizes the risk for human errors. In the current study it is clearly shown that simulation training is also useful in gastrointestinal endoscopy. The newly developed workshop may thus be of crucial importance to improve personal crisis management. Simulation also leads to an improvement of endoscopic and emergency skills. Accordingly, simulation training should be recommended or offered as an education option in gastrointestinal endoscopy.


Assuntos
Instrução por Computador/métodos , Cuidados Críticos/métodos , Endoscopia Gastrointestinal/métodos , Gastroenterologia/educação , Avaliação de Programas e Projetos de Saúde , Interface Usuário-Computador , Educação Médica Continuada/métodos , Alemanha
7.
Neoplasma ; 43(2): 65-7, 1996.
Artigo em Inglês | MEDLINE | ID: mdl-8843964

RESUMO

Increased concentrations of soluble intercellular adhesion molecule-I (ICAM-1) have been reported in a number of diseases including cancer. This study was undertaken to evaluate soluble ICAM-1 in colorectal cancer and its relationship to an unspecific acute phase response. Fifty six patients (25 with advanced colorectal cancer and 31 out-patients after radical surgical treatment) were included. Soluble ICAM-1 was measured by enzyme immunoassay. Four acute phase proteins (C-reactive protein, acid alpha 1-glycoprotein, haptoglobin and ceruloplasmin) were estimated by immuno-nephelometry. No significant increase of soluble ICAM-1 could be demonstrated in the patients compared to a control group (median 273 ng/ml vs. 270 ng/ml). Furthermore, patients with advanced colorectal cancer did not demonstrate elevated soluble ICAM-1 compared to follow-up out-patients. Patients with present acute phase response as determined by C-reactive protein were shown to have increased soluble ICAM-1 compared to patients without acute phase reaction. Using other acute phase proteins no difference for soluble ICAM-1 has been shown. Our data suggest an association between acute phase response and increased ICAM-1 in patients with colorectal cancer which should be considered when the diagnostic and/or prognostic usefulness of soluble ICAM-1 is to be evaluated.


Assuntos
Proteínas de Fase Aguda/análise , Reação de Fase Aguda/sangue , Neoplasias Colorretais/sangue , Molécula 1 de Adesão Intercelular/sangue , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais/química , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , Solubilidade
8.
Dtsch Zahnarztl Z ; 46(2): 132-4, 1991 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-1814706

RESUMO

The marginal situation of class I restorations is determined by the intensity of the light used for curing. In all composites the use of an intensive light-source (Osram HBO 100) leads to marginal gaps. This effect was demonstrated in three composites cured with light sources that are commonly used in practice.


Assuntos
Resinas Compostas , Restauração Dentária Permanente , Infiltração Dentária/prevenção & controle , Luz
9.
Rontgenblatter ; 41(2): 54-6, 1988 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-3375758

RESUMO

In the axial skeleton, osteomyelitis of the os sacrum is rare, although it occurs more frequently than tuberculosis of the sacrum. Secondary osteomyelitis as a complication of tumours, metastases or inflammatory processes of the adjacent areas is seen more often than primary sacral osteomyelitis.


Assuntos
Abscesso/diagnóstico por imagem , Osteomielite/diagnóstico por imagem , Sacro/diagnóstico por imagem , Idoso , Carcinoma de Células Renais/diagnóstico por imagem , Carcinoma de Células Renais/secundário , Humanos , Neoplasias Renais/diagnóstico por imagem , Masculino , Neoplasias da Próstata/diagnóstico por imagem , Radiografia , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/secundário
10.
Rontgenblatter ; 35(7): 277-8, 1982 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-7100790

RESUMO

The case demonstrated here shows that filling defects in the oesophagus do not prove the existence of a tumour. In diffuse haemorrhages of the oesophageal mucosa the blood may not be swallowed completely or vomited; it may coagulate in the oesophagus, adhere to the wall and produce a tumor-like pattern.


Assuntos
Erros de Diagnóstico , Neoplasias Esofágicas/diagnóstico por imagem , Hemorragia/diagnóstico por imagem , Transtornos Plaquetários/induzido quimicamente , Transtornos Plaquetários/complicações , Hemorragia/etiologia , Heparina/efeitos adversos , Humanos , Masculino , Radiografia
13.
Rontgenblatter ; 33(6): 279-85, 1980 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-6770452

RESUMO

In a 48-year old man, ossification was seen in the right achilles tendon which was to be interpreted as due to surgical extension of tendon in childhood following operation of talipes equinus. Only few reports have been published in literature, but in these, the x-ray findings were largely identical, and in all cases except one, injuries of the tendon or operations had preceded the condition. Ossification is associated with mild complaints only. It presents a typical pattern of x-ray findings distinguishing it from tendon ossifications or calcifications of other origin.


Assuntos
Tendão do Calcâneo/cirurgia , Deformidades Congênitas do Pé , Ossificação Heterotópica/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Osteocondrite/complicações
15.
Radiologe ; 20(2): 86-9, 1980 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-7360942

RESUMO

Case report of a 48 year old female patient with a large abdominal mass, found to be a true cyst of the pancreas following surgical removal. Plain film findings were a large soft tissue mass in the abdomen to the left of the midline, displacement of small bowel and colon descendens with splenic flexure to the right, and upward displacement of stomach and left kidney. A renal scan showed decreased uptake in the area of the lower pole of the left kidney. Angiography demonstrated the mass to be of cystic nature with the cyst wall getting its blood supply from two left renal arteries. Celiac and mesenteric arteries were displaced to the right. The origin of the cyst was in the tail of the panpcreas; and its wall had true epithelial lining. Special emphasis is made on the value of checking for amylase in the work-up of cystic abdominal masses.


Assuntos
Cisto Pancreático/diagnóstico por imagem , Angiografia , Feminino , Humanos , Pessoa de Meia-Idade
16.
Arch Orthop Trauma Surg (1978) ; 96(2): 135-47, 1980.
Artigo em Inglês | MEDLINE | ID: mdl-6990894

RESUMO

A practically complete destruction of both femoral heads including the femoral necks and acetabula was encountered in a 69-year-old patient with diabetes, which varied in intensity. This destruction, documented by radiographs which had been taken 8 years prior, had started as the typical picture of "idiopathic femoral head necrosis". In addition to diabetes, hyperuricemia and hyperlipoproteinemia were present at the time when the femoral head necrosis was first evidenced. One episode of gout was recorded. In recent years, following therapy, the hyperurecemia and hyperlipoproteinemia had normalized. The question is raised, as to whether or not the present radiological findings represent a complication of aseptic femoral head necrosis, combined with a diabetic arthropathy of the hip joints. Details of the angiographic findings and a spondylopathy, which have all the characteristics of a neuropathic spondylopathy, would favor this hypothesis. When associated with a diabetic condition, generalized osteoporosis and hypertrophic spondylosis of such a particular nature require special mention.


Assuntos
Complicações do Diabetes , Necrose da Cabeça do Fêmur/etiologia , Hiperlipoproteinemias/complicações , Idoso , Angiografia , Gota/complicações , Calcanhar/irrigação sanguínea , Quadril/irrigação sanguínea , Humanos , Masculino , Doenças da Coluna Vertebral/etiologia , Ácido Úrico/sangue
17.
Strahlentherapie ; 155(10): 677-82, 1979 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-91246

RESUMO

The authors present the experience about modifications of the mammographic data caused by X-ray irradiations which are described in three publications of other authors. Then they mention a first case observed by themselves in 1953 and give a detailed description and documentation of a new observation. In these cases and contrary to the reports of the other authors, a total regression of the tumor shadow in the radiogram was found. The first patient had demonstratable pulmonary metastases already when she was irradiated and the new patient died of cachexia. Before she died, metastases of the vertebral column were demonstrated by radiography which, according to the general and clinical findings, had certainly already existed at the beginning of radiotherapy. It had not been possible to find out what was the nature of pasty swellings lying near the tumor which had not been visible on the radiogram.


Assuntos
Neoplasias da Mama/radioterapia , Mamografia , Idoso , Neoplasias da Mama/diagnóstico por imagem , Feminino , Humanos , Neoplasias Pulmonares/secundário , Cuidados Paliativos , Neoplasias da Coluna Vertebral/secundário
18.
Rontgenblatter ; 32(10): 564-72, 1979 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-386474

RESUMO

This report on a Schipper's fracture at the shaft of the femur in a twelve-year old boy is preceded by a systematic tabulation of the various non-traumatic types of fracture and a general synopsis of stress fractures. At the time of a first exacerbation of pain which had been persisting for several weeks, the x-ray film showed periostal callus formation and a discrete, transverse zone of increased density. Four weeks later, this zone had widened, the central region showing a fine, tape-like translucence. The arteriogram showed a local increase in the number of vessels in the vicinity of the stress fracture.


Assuntos
Fraturas Espontâneas/etiologia , Criança , Diagnóstico Diferencial , Fraturas Espontâneas/diagnóstico , Humanos , Masculino , Osteoma Osteoide/diagnóstico , Osteomielite/diagnóstico , Osteossarcoma/diagnóstico , Esportes , Estresse Mecânico
20.
Rofo ; 131(1): 50-3, 1979 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-157932

RESUMO

A 66-year-old patient developed a retropneumoperitoneum and pneumomediastinum after a proctoscopy. Following the examination, which was done as an out patient, he had some pain but was able to reach home without difficulty. Radiography of the abdomen on the next day showed definite gas collection round the right kidney and below the middle of the diaphragm. The mediastinum showed some translucencies consistent with cranial spread of air from the retropneumoperitoneum; it was particularly marked round the aorta. The film also showed supraclavicular emphysema. After being placed supine the patient's symptoms rapidly disappeared. There were no complications and no treatment was necessary. The case is discussed in relation to the relevant literature.


Assuntos
Enfisema/etiologia , Enfisema Mediastínico/etiologia , Proctoscopia/efeitos adversos , Espaço Retroperitoneal , Idoso , Enfisema/diagnóstico por imagem , Humanos , Masculino , Enfisema Mediastínico/diagnóstico por imagem , Radiografia
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