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1.
Sci Rep ; 11(1): 9822, 2021 05 10.
Artigo em Inglês | MEDLINE | ID: mdl-33972596

RESUMO

Rift Valley fever phlebovirus (RVFV, Phenuiviridae) is an emerging arbovirus that can cause potentially fatal disease in many host species including ruminants and humans. Thus, tools to detect this pathogen within tissue samples from routine diagnostic investigations or for research purposes are of major interest. This study compares the immunohistological usefulness of several mono- and polyclonal antibodies against RVFV epitopes in tissue samples derived from natural hosts of epidemiologic importance (sheep), potentially virus transmitting insect species (Culex quinquefasciatus, Aedes aegypti) as well as scientific infection models (mouse, Drosophila melanogaster, C6/36 cell pellet). While the nucleoprotein was the epitope most prominently detected in mammal and mosquito tissue samples, fruit fly tissues showed expression of glycoproteins only. Antibodies against non-structural proteins exhibited single cell reactions in salivary glands of mosquitoes and the C6/36 cell pellet. However, as single antibodies exhibited a cross reactivity of varying degree in non-infected specimens, a careful interpretation of positive reactions and consideration of adequate controls remains of critical importance. The results suggest that primary antibodies directed against viral nucleoproteins and glycoproteins can facilitate RVFV detection in mammals and insects, respectively, and therefore will allow RVFV detection for diagnostic and research purposes.


Assuntos
Anticorpos Antivirais/isolamento & purificação , Imuno-Histoquímica/métodos , Febre do Vale de Rift/diagnóstico , Vírus da Febre do Vale do Rift/isolamento & purificação , Aedes/virologia , Animais , Anticorpos Antivirais/imunologia , Linhagem Celular , Chlorocebus aethiops , Reações Cruzadas , Culex/virologia , Modelos Animais de Doenças , Drosophila melanogaster/virologia , Epitopos/imunologia , Estudos de Viabilidade , Feminino , Humanos , Camundongos , Mosquitos Vetores/virologia , Proteínas do Nucleocapsídeo , Febre do Vale de Rift/transmissão , Febre do Vale de Rift/virologia , Vírus da Febre do Vale do Rift/imunologia , Células Vero , Proteínas do Envelope Viral/imunologia
2.
Br J Oral Maxillofac Surg ; 59(4): 472-477, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33485712

RESUMO

Temporary tracheostomies (TT) are performed to secure the airway perioperatively and postoperatively in head and neck cancer patients undergoing tumour resection and free tissue reconstructive surgery. Patients report that having a TT is unpleasant and they appreciate its removal at the earliest opportunity. Early removal not only improves patient satisfaction but should allow for a more rapid recovery. The aim of this prospective study was to assess factors that contribute to delays in decannulation following TT and hence to provide an insight into the factors that will support earlier decannulation when it is safe to do so. Consecutive patients who had TT over a six-month period were included. Delayed decannulation was defined as that after day seven postoperatively. There were 42 patients with a median (IQR) age of 70 (60-74) years, 26 of whom were men. The tracheostomy was surgical in 29 and percutaneous in 13. The median (IQR) time to decannulation was 4 (3-5) days (range 1-11 days). Seven patients had delayed removal (7-11 days), the reasons being hospital-acquired pneumonia (HAP) (n=4), prolonged stay in the high dependency unit (HDU) following postoperative myocardial infarction and cardiac arrest (n=1), failure to tolerate TT occlusion (n=1), and not stated (n=1). There were early postoperative complications in 14 patients but despite this seven decannulations were still performed within two and six days. Additional multiprofessional assessment over weekends is likely to facilitate earlier decannulation. As some TTs are removed after a few days there is a need for better selection to avoid their use in certain patients.


Assuntos
Neoplasias de Cabeça e Pescoço , Procedimentos de Cirurgia Plástica , Idoso , Remoção de Dispositivo , Feminino , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Masculino , Complicações Pós-Operatórias , Estudos Prospectivos , Estudos Retrospectivos , Traqueostomia
3.
Eur Radiol ; 28(10): 4418-4428, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29671057

RESUMO

OBJECTIVE: The objective of this study was to evaluate a simplified intravoxel incoherent motion (IVIM) approach of diffusion-weighted imaging (DWI) with four b-values for liver lesion characterisation at 1.5 T. METHODS: DWI data from a respiratory-gated MRI sequence with b = 0, 50, 250, 800 s/mm2 were retrospectively analysed in 173 lesions and 40 healthy livers. The apparent diffusion coefficient ADC = ADC(0,800) and IVIM-based parameters D1' = ADC(50,800), D2' =ADC(250,800), f1', f2', D*', ADClow = ADC(0,50), and ADCdiff=ADClow-D2' were calculated voxel-wise without fitting procedures. Differences between lesion groups were investigated. RESULTS: Focal nodular hyperplasias were best discriminated from all other lesions by f1' with an area under the curve (AUC) of 0.989. Haemangiomas were best discriminated by D1' (AUC of 0.994). For discrimination between malignant and benign lesions, ADC(0,800) and D1' were best suited (AUC of 0.915 and 0.858, respectively). Discriminatory power was further increased by using a combination of D1' and f1'. CONCLUSION: IVIM parameters D and f approximated from three b-values provided more discriminatory power between liver lesions than ADC determined from two b-values. The use of b = 0, 50, 800 s/mm2 was superior to that of b = 0, 250, 800 s/mm2. The acquisition of four instead of three b-values has no further benefit for lesion characterisation. KEY POINTS: • Diffusion and perfusion characteristics are assessable with only three b-values. • Association of b = 0, 50, 800 s/mm2is superior to b = 0, 250, 800 s/mm2. • A fourth acquired b-value has no benefit for differential diagnosis. • For liver lesion characterisation, simplified IVIM analysis is superior to ADC determination. • Simplified IVIM approach guarantees numerically stable, voxel-wise results and short acquisition times.


Assuntos
Imagem de Difusão por Ressonância Magnética/métodos , Hepatopatias/diagnóstico por imagem , Fígado/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Diagnóstico Diferencial , Feminino , Hiperplasia Nodular Focal do Fígado/diagnóstico por imagem , Hemangioma/diagnóstico por imagem , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Movimento (Física) , Estudos Retrospectivos
4.
Cell Death Dis ; 7: e2205, 2016 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-27124579

RESUMO

GABARAP belongs to an evolutionary highly conserved gene family that has a fundamental role in autophagy. There is ample evidence for a crosstalk between autophagy and apoptosis as well as the immune response. However, the molecular details for these interactions are not fully characterized. Here, we report that the ablation of murine GABARAP, a member of the Atg8/LC3 family that is central to autophagosome formation, suppresses the incidence of tumor formation mediated by the carcinogen DMBA and results in an enhancement of the immune response through increased secretion of IL-1ß, IL-6, IL-2 and IFN-γ from stimulated macrophages and lymphocytes. In contrast, TGF-ß1 was significantly reduced in the serum of these knockout mice. Further, DMBA treatment of these GABARAP knockout mice reduced the cellularity of the spleen and the growth of mammary glands through the induction of apoptosis. Gene expression profiling of mammary glands revealed significantly elevated levels of Xaf1, an apoptotic inducer and tumor-suppressor gene, in knockout mice. Furthermore, DMBA treatment triggered the upregulation of pro-apoptotic (Bid, Apaf1, Bax), cell death (Tnfrsf10b, Ripk1) and cell cycle inhibitor (Cdkn1a, Cdkn2c) genes in the mammary glands. Finally, tumor growth of B16 melanoma cells after subcutaneous inoculation was inhibited in GABARAP-deficient mice. Together, these data provide strong evidence for the involvement of GABARAP in tumorigenesis in vivo by delaying cell death and its associated immune-related response.


Assuntos
Apoptose , Autofagia , Citocinas/metabolismo , Proteínas do Citoesqueleto/genética , Proteínas de Membrana/genética , 9,10-Dimetil-1,2-benzantraceno/toxicidade , Proteínas Adaptadoras de Transdução de Sinal , Animais , Apoptose/efeitos dos fármacos , Proteínas Reguladoras de Apoptose , Autofagia/efeitos dos fármacos , Família da Proteína 8 Relacionada à Autofagia/genética , Família da Proteína 8 Relacionada à Autofagia/metabolismo , Carcinogênese/efeitos dos fármacos , Citocinas/genética , Proteínas do Citoesqueleto/deficiência , Proteínas F-Box/genética , Proteínas F-Box/metabolismo , Feminino , Lipopolissacarídeos/toxicidade , Linfócitos/citologia , Linfócitos/imunologia , Linfócitos/metabolismo , Macrófagos/citologia , Macrófagos/imunologia , Macrófagos/metabolismo , Glândulas Mamárias Animais/efeitos dos fármacos , Glândulas Mamárias Animais/metabolismo , Glândulas Mamárias Animais/patologia , Melanoma/metabolismo , Melanoma/patologia , Proteínas de Membrana/deficiência , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Proteínas Associadas aos Microtúbulos/genética , Proteínas Associadas aos Microtúbulos/metabolismo , Transcriptoma/efeitos dos fármacos , Fator de Crescimento Transformador beta1/sangue
5.
Acta Neurol Scand ; 132(5): 291-303, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25882317

RESUMO

Iatrogenic nerve lesions (INLs) are an integral part of peripheral neurology and require dedicated neurologists to manage them. INLs of peripheral nerves are most frequently caused by surgery, immobilization, injections, radiation, or drugs. Early recognition and diagnosis is important not to delay appropriate therapeutic measures and to improve the outcome. Treatment can be causative or symptomatic, conservative, or surgical. Rehabilitative measures play a key role in the conservative treatment, but the point at which an INL requires surgical intervention should not be missed or delayed. This is why INLs require close multiprofessional monitoring and continuous re-evaluation of the therapeutic effect. With increasing number of surgical interventions and increasing number of drugs applied, it is quite likely that the prevalence of INLs will further increase. To provide an optimal management, more studies about the frequency of the various INLs and studies evaluating therapies need to be conducted. Management of INLs can be particularly improved if those confronted with INLs get state-of-the-art education and advanced training about INLs. Management and outcome of INLs can be further improved if the multiprofessional interplay is optimized and adapted to the needs of the patient, the healthcare system, and those responsible for sustaining medical infrastructure.


Assuntos
Procedimentos Neurocirúrgicos/efeitos adversos , Doenças do Sistema Nervoso Periférico/diagnóstico , Humanos , Doença Iatrogênica , Doenças do Sistema Nervoso Periférico/epidemiologia , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/terapia
6.
Unfallchirurg ; 115(2): 107-20, 2012 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-22331228

RESUMO

A hybrid operating room must serve the medical needs of different highly specialized disciplines. It integrates interventional techniques for cardiovascular procedures and allows operations in the field of orthopaedic surgery, neurosurgery and maxillofacial surgery. The integration of all steps such as planning, documentation and the procedure itself saves time and precious resources. The best available imaging devices and user interfaces reduce the need for extensive personnel in the OR and facilitate new minimally invasive procedures. The immediate possibility of postoperative control images in CT-like quality enables the surgeon to react to problems during the same procedure without the need for later revision.


Assuntos
Salas Cirúrgicas , Procedimentos Ortopédicos/instrumentação , Robótica/instrumentação , Cirurgia Assistida por Computador/instrumentação , Interface Usuário-Computador , Ferimentos e Lesões/cirurgia , Eficiência , Desenho de Equipamento , Traumatismos Faciais/diagnóstico por imagem , Traumatismos Faciais/cirurgia , Alemanha , Humanos , Aumento da Imagem/instrumentação , Imageamento Tridimensional/instrumentação , Complicações Intraoperatórias/diagnóstico por imagem , Complicações Intraoperatórias/cirurgia , Reconstrução Mandibular/instrumentação , Procedimentos Cirúrgicos Minimamente Invasivos/instrumentação , Mesas Cirúrgicas , Fraturas Cranianas/diagnóstico por imagem , Fraturas Cranianas/cirurgia , Tomografia Computadorizada por Raios X/instrumentação
7.
Unfallchirurg ; 115(2): 121-4, 2012 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-22331229

RESUMO

Intraoperative magnetic resonance imaging was established 15 years ago due to special requirements for the resection of cerebral gliomas. Several studies have independently shown an increase of the extent of resection of the tumor and also an improved survival of the patients. Technical innovations combined with an easier operation of this imaging modality led to widespread implementation of this method. The introduction of functional and metabolic imaging opened up new prospects of further improving the therapeutic outcome.


Assuntos
Neoplasias Encefálicas/cirurgia , Glioma/cirurgia , Imageamento por Ressonância Magnética/instrumentação , Neuronavegação/instrumentação , Salas Cirúrgicas , Mapeamento Encefálico/instrumentação , Neoplasias Encefálicas/patologia , Imagem de Difusão por Ressonância Magnética/instrumentação , Desenho de Equipamento , Glioma/patologia , Humanos , Interpretação de Imagem Assistida por Computador/instrumentação , Imageamento Tridimensional/instrumentação , Microcirurgia/instrumentação , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/cirurgia
8.
Dalton Trans ; 40(34): 8701-10, 2011 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-21785780

RESUMO

This study reports three new crystalline aluminum isopropoxide oxide fluorides with molar ratios of Al:F equal to 1:1 and 1:1.25. These are the first three representatives isolated without the incorporation of external donor molecules. Compound 1 Al(4)F(4)(µ(4)-O)(µ-O(i)Pr)(5)[H(O(i)Pr)(2)] contains a tetranuclear unit consisting of two different five fold coordinated AlFO(4)-units, with F exclusively in the terminal position. Compound 2, Al(4)F(4)(µ(4)-O)(µ-O(i)Pr)(5)[H(O(i)Pr)(2)]·Al(5)F(5)(µ(5)-O)(µ-O(i)Pr)(8), contains both a tetranuclear unit (as in 1) and a pentanuclear Al-unit. Al-atoms in the latter are five- and six fold coordinated. Compound 3, Al(16)F(20)(µ(4)-O)(4)(µ-O(i)Pr)(20)·2((i)PrOH), exhibits a slightly higher fluorination degree and contains an oligomeric chain of four F-linked tetranuclear Al-units. In addition to X-ray structure analysis, compound 1 was characterized by different solid state MAS NMR techniques, including (27)Al triple quantum MAS NMR and (1)H, (1)H→(13)C CP, (19)F and (27)Al MAS NMR. On the basis of the collected data, a reliable decomposition of (27)Al single pulse MAS NMR spectra and an unambiguous assignment of the resonances to the respective structural AlFO(4)-units are given. The new crystalline aluminum isopropoxide oxide fluorides are direct evidence of the fluorolytic sol-gel mechanism previously discussed.

9.
Eur Spine J ; 20(10): 1684-90, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21533597

RESUMO

We present clinical findings, radiological characteristics and surgical modalities of various posterior approaches to thoracic disc herniations and report the clinical results in 27 consecutive patients. Within an 8-year period 27 consecutive patients (17 female, 10 male) aged 30-83 years (mean 53 years.) were surgically treated for 28 symptomatic herniated thoracic discs in our department. Six of these lesions (21%) were calcified. In all cases surgery was performed via individually tailored posterior approaches. We evaluated the pre- and postoperative clinical status and the complication rate in a retrospective study. Nearly one half of the lesions (46.4%) were located at the three lowest thoracic segments. Clinical symptoms included back pain or radicular pain (77.8%), altered sensitivity (77.8%), weakness (40.7%), impaired gait (51.9%) or bladder dysfunction (22%). Costotransversectomy was performed in 8 patients, 1 lateral extracavitary approach, 2 foraminotomies, 15 transfacet and/or transpedicular approaches and 2 interlaminar approaches were used for removing the pathologies. After a mean follow-up of 38.6 months (3-100 months), complete normalization or reduction of local pain was recorded in 87% of the patients and of radicular pain in 70% of the cases, increased motor strength could be achieved in 55%, sensitivity improved in 76.2% and improvement of myelopathy was noted in 71.4%. Two patients suffered from postoperative impairment of sensory deficits, which in one case was discrete. The overall recovery rate within the modified JOA score was 39.5%. In 1 patient, two revisions were required because of instability and a persisting osteophyte, respectively. The rate of major complications was 7.1% (2/28). Surgical treatment of thoracic disc herniations via posterior approaches tailored to the individual patient produces satisfying results referring to clinical outcome. Posterior approaches remain a viable alternative for a large proportion of patients with symptomatic thoracic disc herniations.


Assuntos
Discotomia/métodos , Deslocamento do Disco Intervertebral/cirurgia , Fusão Vertebral/métodos , Vértebras Torácicas/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Dor nas Costas/cirurgia , Calcinose/epidemiologia , Calcinose/cirurgia , Feminino , Seguimentos , Humanos , Incidência , Deslocamento do Disco Intervertebral/epidemiologia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento
10.
Eur Radiol ; 21(4): 786-98, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20857118

RESUMO

OBJECTIVE: To investigate the response in R2* relaxation rate of human intracranial tumours during hyperoxic and hypercapnic respiratory challenges. METHODS: In seven patients with different intracranial tumours, cerebral R2* changes during carbogen and CO(2)/air inhalation were monitored at 3 T using a dynamic multigradient-echo sequence of high temporal and spatial resolution. The R2* time series of each voxel was tested for significant change. Regions of interest were analysed with respect to response amplitude and velocity. RESULTS: The tumours showed heterogeneous R2* responses with large interindividual variability. In the 'contrast-enhancing' area of five patients and in the 'non-tumoral' tissue most voxels showed a decrease in R2* for carbogen. For the 'contrast-enhancing' area of two patients hardly any responses were found. In areas of 'necrosis' and perifocal 'oedema' typically voxels with R2* increase and no response were found for both gases. For tissue responding to CO(2)/air, the R2* changes were of the same order of magnitude as those for carbogen. The response kinetic was generally attenuated in tumoral tissue. CONCLUSION: The spatially resolved determination of R2* changes reveals the individual heterogeneous response characteristic of intracranial human tumours during hyperoxic and hypercapnic respiratory challenges.


Assuntos
Neoplasias Encefálicas/patologia , Hipercapnia , Imageamento por Ressonância Magnética/métodos , Adulto , Idoso , Algoritmos , Dióxido de Carbono/química , Feminino , Humanos , Hiperóxia , Cinética , Masculino , Pessoa de Meia-Idade , Oxigênio/química , Respiração , Fatores de Tempo
11.
Acta Neurochir Suppl ; 109: 17-20, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-20960315

RESUMO

Intraoperative magnetic resonance imaging (ioMRI) during neurosurgical procedures was first implemented in 1995. In the following decade ioMRI and image guided surgery has evolved from an experimental stage into a safe and routinely clinically applied technique. The development of ioMRI has led to a variety of differently designed systems which can be basically classified in one- or two-room concepts and low- and high-field installations. Nowadays ioMRI allows neurosurgeons not only to increase the extent of tumor resection and to preserve eloquent areas or white matter tracts but it also provides physiological and biological data of the brain and tumor tissue. This article tries to give a comprehensive review of the milestones in the development of ioMRI and neuronavigation over the last 15 years and describes the personal experience in intraoperative low and high-field MRI.


Assuntos
Processamento de Imagem Assistida por Computador/história , Processamento de Imagem Assistida por Computador/instrumentação , Imageamento por Ressonância Magnética/história , Imageamento por Ressonância Magnética/instrumentação , Monitorização Intraoperatória/métodos , Encéfalo/patologia , Encéfalo/cirurgia , História do Século XX , História do Século XXI , Humanos , Processamento de Imagem Assistida por Computador/métodos , Processamento de Imagem Assistida por Computador/tendências , Imageamento por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/tendências , Monitorização Intraoperatória/instrumentação
12.
Acta Neurochir Suppl ; 109: 107-10, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-20960329

RESUMO

OBJECTIVE: Current literature only gives sparse account of aneurysm surgery in an intraoperative MRI environment. After installation of a BrainSuite(®) ioMRI Miyabi 1.5 T at our institution the aim of the present preliminary study was to evaluate feasibility, pros and cons of aneurysm surgery in this special setting. MATERIAL AND METHODS: Since February 2009, during a 3 months period we performed elective image guided aneurysm surgery in 4 ACM and 1 ACOM aneurysm (four patients) in this ioMRI setting. The patients' heads were rigidly fixed in the Noras 8-Channel OR Head Coil. Our imaging protocol included MP-RAGE, T2-TSE axial, TOF-MRA and diffusion-/perfusion-imaging immediately before surgery and after clip application. Presurgical 3D-planning was performed using the iPlan®-Software. RESULTS: All five aneurysms were operated without temporary clipping. There were no intra- or postoperative complications. Patient positioning and head fixation with the integrated Noras Head Clamp was feasible, but there were significant limitations particularly with regard to more complex approaches and patient physiognomy. Image quality especially TOF-MRA was good in 4, insufficient in 1 aneurysm. Presurgical planning especially vessel extraction from TOF-MRA was possible but certainly needs significant future improvement. Diffusion- and perfusion weighted examinations yielded good image quality. CONCLUSION: Our limited experience is encouraging so far. Further improvement particularly concerning flexibility of patient positioning and presurgical 3D-planning for vascular procedures is most necessary. As a future perspective image guided aneurysm surgery in an ioMRI-environment may be helpful especially in complex aneurysms and provide neurosurgeons and neuroanaesthesiologists with additional information about cerebral haemodynamics and perfusion pattern in the vascular territory distal to the target vessel.


Assuntos
Aneurisma/patologia , Angiografia por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/instrumentação , Neuronavegação , Aneurisma/cirurgia , Humanos , Angiografia por Ressonância Magnética/instrumentação , Imageamento por Ressonância Magnética/métodos , Procedimentos Neurocirúrgicos/instrumentação , Procedimentos Neurocirúrgicos/métodos , Estudos Retrospectivos , Resultado do Tratamento
13.
Oncogene ; 29(6): 865-75, 2010 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-19901960

RESUMO

Imbalances in chromosome 11q occur in approximately 30% of primary neuroblastoma and are associated with poor outcome. It has been suggested that 11q loss constitutes a distinct clinico-genetic neuroblastoma subgroup by affecting expression levels of corresponding genes. This study analysed the relationship of 11q loss, clinical phenotype and global transcriptomic profiles in four clinico-genetic subgroups (11q alteration/favourable outcome, n=7; 11q alteration/unfavourable outcome, n=14; no 11q alteration/favourable outcome, n=81; no 11q alteration/unfavourable outcome, n=8; tumours with MYCN amplification and/or 1p loss were excluded). Unsupervised and supervised comparisons of gene expression profiles consistently showed significantly different mRNA patterns between favourable and unfavourable neuroblastomas, both in the subgroups with and without 11q loss. In contrast, favourable tumours with and without 11q loss showed highly similar transcriptomic profiles. Disproportionate downregulation of 11q genes was observed only in unfavourable tumours with 11q loss. The diverging molecular profiles were neither caused by considerable differences in the size of the deleted regions nor by differential methylation patterns of 11q genes. Together, this study shows that neuroblastoma with 11q loss comprises two biological subgroups that differ both in their clinical phenotype and gene expression patterns, indicating that 11q loss is not a primary determinant of neuroblastoma tumour behaviour.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 11/genética , Biologia Computacional , Perfilação da Expressão Gênica , Genômica , Neuroblastoma/diagnóstico , Neuroblastoma/genética , Pré-Escolar , Cromossomos Humanos Par 11/metabolismo , Regulação Neoplásica da Expressão Gênica , Humanos , Metilação , Neuroblastoma/metabolismo , Neuroblastoma/patologia , Prognóstico , Regiões Promotoras Genéticas/genética
14.
Zentralbl Neurochir ; 69(3): 134-8, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18666052

RESUMO

OBJECTIVE: Perineuriomas are rare benign peripheral nerve sheath tumors, which have only been included in the WHO classification system since 2000. They are divided into intraneural perineuriomas and soft tissue tumors. Intraneural perineuriomas were previously known as localized hypertrophic neuropathies. Because of their rarity there are only case reports in the literature. METHODS: Between 1992 and 2006 surgery was performed on four patients suffering from intraneural perineuriomas in our hospital. All patients were males, aged five, ten, twenty and twenty-nine years old. One of the tumors occurred in the ulnar nerve, one in the common peroneal part of the sciatic nerve and two of them in the radial nerve. In a retrospective study the clinical, electrophysiological and imaging data of the patients was analyzed. Two of these patients had previously been treated with decompression and neurolysis of the nerve for the suspicion of a nerve compression syndrome. Revisions were necessary following progressive neurological deterioration postoperatively. Explorations of the nerves showed nerve tumors. The tumors were resected and nerve grafting was performed. CONCLUSIONS: These tumors tend to affect the nerves of the upper extremities in children or young adults. The predominant symptom is a slow-progressive paralysis. Two of the four patients showed a partial improvement of their motor and sensorial nerve deficits in the long-term follow-up following complete tumor resection and interpositional autologous nerve grafts. No relapse could be observed. In cases of slow-progressive neurological deficits of a peripheral nerve in young patients the differential diagnosis should include the intraneural perineuriomas.


Assuntos
Neoplasias do Sistema Nervoso/patologia , Neoplasias do Sistema Nervoso/cirurgia , Neurilemoma/patologia , Neurilemoma/cirurgia , Adulto , Pré-Escolar , Diagnóstico Diferencial , Dedos/inervação , Dedos/patologia , Dedos/cirurgia , Humanos , Imuno-Histoquímica , Lactente , Imageamento por Ressonância Magnética , Masculino , Debilidade Muscular/etiologia , Neuropatias Fibulares/etiologia , Neuropatias Fibulares/patologia , Neuropatias Fibulares/cirurgia , Neuropatia Radial/etiologia , Neuropatia Radial/patologia , Neuropatia Radial/cirurgia , Proteínas S100/metabolismo , Resultado do Tratamento , Neuropatias Ulnares/etiologia , Neuropatias Ulnares/patologia , Neuropatias Ulnares/cirurgia
15.
Clin Genet ; 73(1): 62-70, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18042262

RESUMO

Cardio-facio-cutaneous (CFC) and Costello syndrome (CS) are congenital disorders with a significant clinical overlap. The recent discovery of heterozygous mutations in genes encoding components of the RAS-RAF-MAPK pathway in both CFC and CS suggested a similar underlying pathogenesis of these two disorders. While CFC is heterogeneous with mutations in BRAF, MAP2K1, MAP2K2 and KRAS, HRAS alterations are almost exclusively associated with CS. We carried out a comprehensive mutation analysis in 51 CFC-affected patients and 31 individuals with CS. Twelve different BRAF alterations were found in twenty-four patients with CFC (47.0%), two MAP2K1 mutations in five (9.8%) and two MAP2K2 sequence variations in three CFC-affected individuals (5.9%), whereas three patients had a KRAS alteration (5.9%). We identified four different missense mutations of HRAS in twenty-eight cases with CS (90.3%), while KRAS mutations were detected in two infants with a phenotype meeting criteria for CS (6.5%). In 14 informative families, we traced the parental origin of HRAS alterations and demonstrated inheritance of the mutated allele exclusively from the father, further confirming a paternal bias in the parental origin of HRAS mutations in CS. Careful clinical evaluation of patients with BRAF and MAP2K1/2 alterations revealed the presence of slight phenotypic differences regarding craniofacial features in MAP2K1- and MAP2K2-mutation positive individuals, suggesting possible genotype-phenotype correlations.


Assuntos
Anormalidades Múltiplas/genética , Fácies , Cardiopatias Congênitas/genética , Mutação , Anormalidades da Pele/genética , Adulto , Criança , Análise Mutacional de DNA , Deficiências do Desenvolvimento , Humanos , Deficiência Intelectual , MAP Quinase Quinase 1/genética , MAP Quinase Quinase 2/genética , Fenótipo , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas p21(ras) , Síndrome , Proteínas ras/genética
16.
Zentralbl Neurochir ; 68(1): 8-13, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17487802

RESUMO

OBJECTIVE: Endovascular treatment of cerebral aneurysms with detachable coils has proven to be a save and effective treatment. But long-term recurrence due to aneurysm regrowth or coil compaction has been reported in up to thirty percent of cases. Therefore a growing number of previously coiled aneurysms have to be retreated by coiling or, in some circumstances, by clipping. We present a consecutive series of ten patients who underwent surgical clipping for recurrent aneurysms after primary coil embolization. METHODS: During a 4-year period ten patients with intracranial aneurysms previously treated by coil embolization underwent surgery for clipping of recanalized aneurysms. All aneurysms were located in the anterior circulation (internal carotid artery [ICA], 2; middle cerebral artery [MCA], 3; anterior communicating artery [AcomA], 5). Clinical data and imaging studies of the patients were analyzed retrospectively. RESULTS: All recurrences were detected by routine control angiograms within a median period of 14 months after primary treatment. In three aneurysms treated for SAH dense arachnoid scarring around the aneurysm sac was noted. In four cases, coils were found intraoperatively to be extruding through the aneurysm sac into the subarachnoid space. Each aneurysm could be clipped without affecting the perfusion of the parent vessel. In one patient the aneurysm sac including the coil package was resected. In one patient one of the central anteromedial arteries was injured during dissection due to dense arachnoid scarring because of prior SAH. As a consequence infarction of the head of the caudate nucleus without neurological compromise was observed on follow-up CT scans. Another patient developed transient aphasia due to vasospasm in the early postoperative period with complete restitution. In the end all patients had an uneventful recovery. Removal of the coil package was not necessary in most cases. Clipping of the aneurysm neck was possible even in cases with coil dislocation into the parent vessel. CONCLUSION: Clipping of previously coiled aneurysms is a unique problem for vascular neurosurgeons. In most cases clipping is feasible. Clipping should still be considered as a definite treatment option in previously coiled recurrent aneurysms. Results in this small series were good.


Assuntos
Aneurisma Intracraniano/cirurgia , Procedimentos Neurocirúrgicos , Adulto , Angiografia Cerebral , Embolização Terapêutica , Feminino , Seguimentos , Escala de Resultado de Glasgow , Humanos , Aneurisma Intracraniano/terapia , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Estudos Prospectivos , Recidiva , Resultado do Tratamento
17.
Minim Invasive Neurosurg ; 47(2): 111-4, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15257485

RESUMO

In 2000 a cannulated screw stabilization system for posterior cervical instrumentation was introduced in our department for use in complex cervical fixation procedures. A special feature of the system is the use of thin Kirschner wires for drilling the screw paths and then placing the self-drilling, cannulated screws securely over the wires. Percutaneous application of C1-C2 transarticular screws is possible through tubes. An optional "atlas-claw" provides additional stability in cases of C1-C2 stabilization. 17 patients (10 female, 7 male, mean age 60 years) with complex cervical disorders and instability of different origin were stabilized using the Neon System (Ulrich Co., Ulm, Germany). Pathology included atlantoaxial instability based on rheumatoid arthritis (n = 12), odontoid fracture (n = 4) and os odontoideum mobile (n = 1). Computed navigation (STN 4.0, Zeiss or vector vision spine, brain lab) was used in 14 cases. Transarticular C1-C2 screw fixation was performed in 14 cases (4 patients with direct C1 massa lateralis screw fixation), craniocervical fixation (C0-C2/C3) was done in 3 patients. Percutaneous application of the C1-C2 screws was used in 7 patients. Atlas claws were applied in 8 patients. There was one medial perforation of a C2 pedicle wall and one malposition of the screw in C2 without reaching the lateral mass of C1. After a mean follow-up of 9 months there were no hardware failures and stable fusion in those cases followed after 12 months or more. Clinical results were excellent or good in 14/16 patients. Cannulated screws are an effective alternative in complex stabilization procedures of the cervical spine. The presented system is technically comfortable and allows safe percutaneous screw application as well as inclusion of computed navigation with high accuracy.


Assuntos
Parafusos Ósseos , Vértebras Cervicais/cirurgia , Instabilidade Articular/cirurgia , Procedimentos Neurocirúrgicos/métodos , Ortopedia/métodos , Doenças da Coluna Vertebral/cirurgia , Cirurgia Assistida por Computador , Adulto , Idoso , Idoso de 80 Anos ou mais , Fios Ortopédicos , Vértebras Cervicais/patologia , Desenho de Equipamento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos/instrumentação
18.
Zentralbl Neurochir ; 64(3): 123-7, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12975747

RESUMO

In a first clinical series of ten patients the new cervical fixation device StarLock trade mark (Synthes, Umkirch, Germany) was implanted.[nl]Characteristics of the device are deep threaded screws with higher pullout resistance and a high angular tolerance while inserting the rods thus simplifying the implantation.[nl]62 lateral mass screws in ten patients were inserted. In 2 cases placement of screws was insufficient (3.2 %) because of surgical difficulties not attributable to the system technique.[nl]In all other cases a radiologically proven stabilization was created. [nl]Due to the high angular tolerance of the screw clamps bending of rods is simplified, especially in cases of longer constructs, and shortens the operation time.[nl]The design of the StarLock trade mark system allows an easy application of computer-navigated placing of transpedicular screws.[nl]This new cervical fixation device is easy to handle and simplifies rod application especially in longer constructs.


Assuntos
Vértebras Cervicais , Fixadores Internos , Idoso , Idoso de 80 Anos ou mais , Parafusos Ósseos , Vértebras Cervicais/diagnóstico por imagem , Descompressão Cirúrgica , Seguimentos , Humanos , Fixadores Internos/efeitos adversos , Laminectomia , Masculino , Pessoa de Meia-Idade , Procedimentos Ortopédicos , Implantação de Prótese/efeitos adversos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
19.
Handchir Mikrochir Plast Chir ; 35(2): 98-105, 2003 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-12874720

RESUMO

Obstetrical brachial plexus palsy occurs at a frequency of 0.6 to 2.5 per 1000 births. 80 to 95% of these lesions recover spontaneously. If spontaneous recovery does not occur within the first six months of life, investigations like electrophysiology, and CT-myelography and surgical exploration of the brachial plexus are recommended. During the last ten years 73 children with obstetrical brachial plexus lesions were examined in our department. 29 newborns underwent surgery on the brachial plexus. In 20 out of 29 children nerve root avulsions were diagnosed preoperatively. We performed in 16 cases nerve grafting after neuroma excision, in four cases nerve grafting combined with neurotization, in seven cases external or internal neurolysis, and in the remaining two cases neurotization and plexo-plexal transfer, respectively. The children were followed up between 18 and 50 months (range 27 months) in 18 cases. Elbow function according to Gilbert scale achieved one half of the patients four to five points and the other half two to three points. We found shoulder function with abduction between 45 degrees to 128 degrees and external rotation in 61% (Grade II to V, according to Gilbert scale). In 31% hand function showed Grade III and IV (Gilbert and Raimondi scale). We recommend decision for surgery at the age of six months. Operation should be planned between six to nine months of life. In addition, physical therapy and options including muscle transfers and orthopaedic procedures must be available to ensure the optimal outcome for these children.


Assuntos
Traumatismos do Nascimento/cirurgia , Plexo Braquial/lesões , Paresia/cirurgia , Traumatismos do Nascimento/diagnóstico , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Microcirurgia/métodos , Transferência de Nervo/métodos , Paresia/diagnóstico , Nervos Periféricos/transplante , Gravidez , Radiculopatia/diagnóstico , Radiculopatia/cirurgia
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