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Holger Hertzberg Walter J. Huk Michael A. Ueberall Thorsten Langer Walburga Meier Roland Dopfer Martin Skalej Herwig Lackner Udo Bode Gisela Janssen Felix Zintl Jrn D. Beck 《Pediatric blood & cancer》1997,28(6):387-400
The effect of cranial irradiation on possible therapy-induced morphological central nervous system (CNS) side effects of children cured from acute lymphoblastic leukemia (ALL) is controversially discussed. In a retrospective multicenter study, 118 former ALL patients in first continous remission were investigated using cranial computerised tomography (CCT) or magnetic resonance imaging (MRI) scans to evaluate CNS related impairments. Corresponding to the different kinds of CNS prophylaxis, the patient sample was divided: group A (n = 39) receiving intrathecal methotrexate (ITMTX) and systemical medium-high-dose methotrexate (SMHDMTX), group B (n = 41) cranial irradiated (in mean 16.8 Gy) and administering ITMTX and SMHDMTX, group C (n = 38) irradiated (in mean 17.1 Gy) and getting ITMTX. Pathologic scans showed atrophy, leukoencephalopathy, calcifications or grey matter changes. These findings were compared with the neuropsychological test results. Abnormal MRI or CCT scans were found in 61/118 patients (51.7%). Fifteen belonged to group A (38.5%), 23 to B (56.1%) and 23 to C (60.5%). Patients with definite CNS changes show reduced neuropsychological test results. The prevalence of brain alterations seems to appear twice increased after lengthening the post-therapeutic interval in irradiated patients as in nonirradiated patients. Irradiated patients with an age younger than 2 years at diagnosis may show a lower prevalence for developing CNS alterations. CNS alterations are not sex-related. Children treated with cranial irradiation in combination with SMHDMTX and/or ITMTX were at greater risk of developing morphological brain alterations than patients with chemotherapy alone. These alterations are partly correlated with reduced neuropsychological performances and seem to stay with a longer post-therapeutic interval. Med. Pediatr. Oncol. 28: 387–400, 1997. © 1997 Wiley-Liss, Inc. 相似文献
43.
A. Mewes P. Saalfeld O. Riabikin M. Skalej C. Hansen 《International journal of computer assisted radiology and surgery》2016,11(1):157-164
Purpose
The interaction with interventional imaging systems within a sterile environment is a challenging task for physicians. Direct physician–machine interaction during an intervention is rather limited because of sterility and workspace restrictions.Methods
We present a gesture-controlled projection display that enables a direct and natural physician–machine interaction during computed tomography (CT)-based interventions. Therefore, a graphical user interface is projected on a radiation shield located in front of the physician. Hand gestures in front of this display are captured and classified using a leap motion controller. We propose a gesture set to control basic functions of intervention software such as gestures for 2D image exploration, 3D object manipulation and selection. Our methods were evaluated in a clinically oriented user study with 12 participants.Results
The results of the performed user study confirm that the display and the underlying interaction concept are accepted by clinical users. The recognition of the gestures is robust, although there is potential for improvements. The gesture training times are less than 10 min, but vary heavily between the participants of the study. The developed gestures are connected logically to the intervention software and intuitive to use.Conclusions
The proposed gesture-controlled projection display counters current thinking, namely it gives the radiologist complete control of the intervention software. It opens new possibilities for direct physician–machine interaction during CT-based interventions and is well suited to become an integral part of future interventional suites.44.
DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies 下载免费PDF全文
Hülya Kayserili Dietmar Müller Beyhan Tüysüz Deborah M. Ruddy Emma Wakeling Karen Helene Ørstavik Katie M. Snape Richard Trembath Maryse De Smedt Nathalie van der Aa Martin Skalej Stefan Mundlos Martin Zenker 《Human mutation》2015,36(6):593-598
Adams–Oliver syndrome (AOS) is characterized by the association of aplasia cutis congenita with terminal transverse limb defects, often accompanied by additional cardiovascular or neurological features. Both autosomal‐dominant and autosomal‐recessive disease transmission have been observed, with recent gene discoveries indicating extensive genetic heterogeneity. Mutations of the DOCK6 gene were first described in autosomal‐recessive cases of AOS and only five DOCK6‐related families have been reported to date. Recently, a second type of autosomal‐recessive AOS has been attributed to EOGT mutations in three consanguineous families. Here, we describe the identification of 13 DOCK6 mutations, the majority of which are novel, across 10 unrelated individuals from a large cohort comprising 47 sporadic cases and 31 AOS pedigrees suggestive of autosomal‐recessive inheritance. DOCK6 mutations were strongly associated with structural brain abnormalities, ocular anomalies, and intellectual disability, thus suggesting that DOCK6‐linked disease represents a variant of AOS with a particularly poor prognosis. 相似文献
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46.
Andreas R. Luft Martin Skalej Dorothea Welte Ruppert Kolb Uwe Klose 《Journal of magnetic resonance imaging : JMRI》1996,6(4):700-704
This study investigated the influence of slice thickness. section orientation, contrast, shape, and sequence type on the exactness of MRI-based volumetry. Ni-doped agarose gel phantoms (4 to 46 ml) were scanned with a T1-weighted three-dimensional Fourier transform (FT) fast low-angle shot (FLASH) and a multiecho two-dimensional FT-Turbo spin-echo (SE) sequence. After segmentation with a three-dimensional region-growing algorithm, the geometric volume was measured considering the partial volume effect. The variability coefficient (Pearson) was .7%. The volumetric error increased with slice thickness, depending on the size and form of the object. Cross sections resulted in smaller error than longitudinal sections (finger-shaped phantoms, nonisotropic image data). Three-dimensional FT was superior to two-dimensional FT imaging. Results of slice thickness and section orientation experiments can be explained by the partial volume effect. Higher errors in two-dimensional FT imaging were caused by object movements between two interleaved acquisitions. The study shows a considerable influence of the imaging parameters on the exactness, which depends on size and form of the structure of interest. 相似文献
47.
F Schick H Bongers W I Jung M Skalej O Lutz C D Claussen 《Magnetic resonance in medicine》1992,26(2):207-217
Volume-selective 1H magnetic resonance spectra of small volume elements of (13 mm)3 positioned in lumbar vertebral bodies have been investigated in 15 healthy persons of different ages and sexes and in 11 patients with leukemia using double spin-echo sequences. Signal intensities and positions of the spectral lines have been evaluated. Interindividual spectra of VOI located in the center of vertebral bodies, intraindividual spectra of central VOI in different vertebral bodies, and spectra of different localizations within the same vertebral body have been compared as well as spectra before and partly after cytostatic treatment in leukemia patients. Unexpected phenomena of the signal shapes have been found. The water signal distributions in healthy persons compared to patients after bone marrow transplantation show significant differences. The success of the cytostatic treatment in cases of leukemia is accompanied by an increase in the intensity of the lipid signals and a decrease in the water signals. 相似文献
48.
Localized in vivo 1H spectroscopy and chemical shift imaging of the bone marrow in leukemic patients
Six healthy volunteers, ten patients with acute leukemia, one patient with hypersplenia and two with bone marrow carcinoris were studied. Nine patients with leukemia were restudied during chemotheraphy. A double spin echo localization method, implemented on a 1.5 T whole body unit was used for 1H magnetic resonance spectroscopy (MRS). A cubic (13 mm)3 voxel was chosen in a midlumbar vertebra. For chemical shift imaging (CSI) the SENEX sequence was used. We recorded fat and water images in a representative midsagittal plane. Patients with acute leukemia and hypercellular bone marrow a severe reduction or loss bone marrow fat signal and an increased water signal. Water T1 increaed during therapy in three patients. The bone marrow fat reappeared in the spectra and chemical shift images within 2 or 3 weeks in responders and remained unchanged or reappeared later in non-responders. A normal fat signal could be detected in leukemic patients without hypercellular bone marrow. Specificity was missing for 1H MRS and CSI; marrow carcinosis and benign stimulation (hypersplenia) could not be seperated from leukemia. In clinical routine, CSI may have advantages over 1H MRS, because a large anatomic field can be examined. Inhomogenous fat signal distrbutions can be detected and were seen in sveral cases during therapy. 1H MRS and CSI allow non-invasive therapy monitoring of leukemic patients adn might be of prognostic value.
Correspondence to: H. Bongers 相似文献
49.
Wunderlich MT Lins H Skalej M Wallesch CW Goertler M 《Clinical neurology and neurosurgery》2006,108(6):558-563
OBJECTIVES: Analyses of neuron-specific enolase (NSE) and tau protein in patients with hyperacute ischemic stroke, their association with infarct volume, severity of the neurological deficit, the neurovascular status and functional outcome. PATIENTS AND METHODS: In 66 consecutive patients, serial venous blood samples were taken at 3, 6, 12, 18, 24, 48, 72, 96, and 120 h after stroke onset. The neurovascular status was assessed by repetitive extra- and transcranial duplex sonography. Neurological deficits were quantified by the NIH stroke scale, and functional outcome was assessed with the modified Rankin scale (mRS). RESULTS: After a first rise within 3 h, NSE decreased followed by a secondary increase until Day 5. Tau protein concentrations showed a continuous increase from admission onward. NSE and tau release were highly correlated with severity of neurological deficits and infarct volume (P = 0.001). NSE, but not tau protein, release was associated to the neurovascular status on admission. NSE and tau protein values were significantly correlated with the functional outcome at 3 months (P < 0.001). CONCLUSION: Release kinetics of NSE and tau protein are associated with patients' clinical deficits and infarct volume, and may be used as an additional predictor of the early course and functional outcome. 相似文献
50.