Biomedical subjects

Horst Urbach

Publications and source records attributed to Horst Urbach.

At least 19 recordsLinked to original sources

PubMed2007

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.

BACKGROUND: The symptom triad of autosomal dominant Currarino syndrome (CS; MIM #176450) consists of anorectal malformation, a sacral bone defect, and presacral masses. Mutations in the homeoboxHLXB9 gene have already been described in a subset of sacrococcygeal anomalies characterized by partial sacral agenesis. CASE: We report a 28-year-old male patient with Currarino syndrome due to a heterozygous novel frame-shift mutation c.336dupG (p.P113fsX224) in the homeoboxHLXB9 gene. CONCLUSIONS: Molecular diagnostics may be helpful in cases of Hirschsprung's disease accompanied by other symptoms suggestive for Currarino syndrome, since it can lead to major complications such as perianal sepsis, meningitis, and malignant transformation.

Abnormalities, Multiple↗

PubMed2006

Comparison of manual tracing versus a semiautomatic radial measurement method in temporal lobe MRI volumetry for pharmacoresistant epilepsy.

INTRODUCTION: The aim of this study was to test a modified radial semiautomated volumetry technique (radial divider technique, RDT) versus the manual volumetry technique (MVT) for proportionality of temporal subvolumes in 30 patients with drug-resistant temporal lobe epilepsy. METHODS: Included in the study were 30 patients (15 female, 15 male; mean age 39.6 years) with pharmacoresistant epilepsy (mean duration 26.6 years). MRI studies were performed preoperatively on a 1.5-T scanner. All image processing steps and volume measurements were performed using ANALYZE software. The volumes of six subregions were measured bilaterally; these included the superior temporal gyrus (STG), middle + inferior temporal gyrus (MITG), fusiform gyrus (FG), parahippocampal gyrus (PHG), amygdala (AM), and hippocampus (HP). Linear regression was used to investigate the relationship between the comparable subvolumes obtained with MVT and RDT. RESULTS: Very high correlations (R (2) >0.95) between RDT and MVT were observed for the STG + MITG and the STG + MITG + FG, but low correlations for the PHG subvolumes and the combined PHG + HP + AM subvolumes. These observations were independent of the side of the pathology and of hemisphere. CONCLUSION: The two measurement techniques provided highly reliable proportional results. This series in a homogeneous group of TLE patients suggests that the much quicker RDT is suitable for determining the volume of temporolateral and laterobasal temporal lobe compartments, of both the affected and the non-affected side and the right and left hemisphere.

Adolescent↗

PubMed2006

Radiological assessment of Creutzfeldt-Jakob disease.

Creutzfeldt-Jakob disease is a rare fatal neurodegenerative disorder, characterized by rapidly progressive dementia and neurological signs. There is a need for early and accurate clinical diagnosis in order to exclude any treatable disorder. Additionally, it is of public interest to differentiate the sporadic form of the disease from the variant CJD type (vCJD), which is probably transmitted from cattle infected with bovine spongiform encephalopathy (BSE). High signal in the striatum on T2-weighted, FLAIR and diffusion weighted (DW) MRI as well as cortical high signal in FLAIR and DW MRI are the classical findings in sCJD. The "pulvinar sign", defined as high signal in the pulvinar thalami that is brighter than potential additional high signal in the basal ganglia, is considered pathognomonic for vCJD.

Animals↗

PubMed2006

High spatial resolution contrast-enhanced MR angiography of the supraaortic arteries using the quadrature body coil at 3.0T: a feasibility study.

To examine whether the the increased signal-to-noise (S/N) available at 3.0T would permit the use of the quadrature body coil for high spatial resolution contrast-enhanced (CE) MR angiography (MRA), and whether the large FOV that was used in our routine 1.5T protocol would also be feasible at 3.0T. In a prospective study, 43 patients and five volunteers were examined on a clinical whole-body 3.0T MR unit (Intera, Philips Medical Systems, Best, The Netherlands) after institutional review board approval and informed consent. Three-dimensional CE MRA (T1 gradient echo-sequence with TR/TE = 5.7/1.93 msec.; acquisition time, 1:54 min.) using randomly segmented central k-space ordering (CENTRA) was acquired with the quadrature body coil, using over a FOV of 350 mm. A high-image matrix of 432x432 yielded a non-zero filled voxel size of 0.81 mm x 0.81 mm x 1.0 mm (0.66 mm(3)). For quantitative analysis, contrast ratios (CR) between vessels (S) and signal in surrounding tissue (ST) were calculated [(S-ST)/(S+ST)]. For qualitative analysis, image quality and presence of artifacts were rated by two radiologists in consensus on a five-point scale (1=excellent to 5=nondiagnostic). Digital subtraction angiography (DSA) served as the standard of reference in patients with vascular disease. In the five volunteers, 1.5T CE MRA using a phased array neurovascular coil was available for intraindividual comparison. 3.0T CE MRA was successfully performed in 48/48 subjects (100%). Mean CR+/- SD were 0.76 (139.30/182.42) and 0.87 (235.18/270.14) at 3.0T and 1.5T respectively . Mean image quality was 3.82+/-0.86. Intraindividual comparison between 1.5T and 3.0T CE MRA in the volunteers revealed no significant difference in image quality (4.2+/-0.74 vs 4.6+/-0.80; p>0.05). Vascular disease was correctly identified in 13/13 patients with DSA correlation. CE MRA of the supraaortic arteries is feasible at 3.0T using a large FOV of 350 mm. The signal gain at 3.0T enables high spatial resolution contrast-enhanced MR angiography by using the built-in quadrature body coil only.

Adult↗

PubMed2006

Serial MRI of limbic encephalitis.

INTRODUCTION: The aim of the study was to analyze serial magnetic resonance imaging (MRI) scans in patients with various forms of limbic encephalitis (LE) in order to evaluate whether, and at what time point, MRI findings support the diagnosis of LE. METHODS: Serial MRI scans (1 day to 15 years after the onset of symptoms) of 20 patients with LE were retrospectively evaluated. Of these 20 patients, 16 had definite LE (histopathological limbic inflammation, n=6; onconeural antibodies, n=5; voltage-gated potassium channel antibodies, n=3; malignant tumors, n=5), and 4 possible LE because they met the clinical criteria but had no typical antibodies or tumors. RESULTS: Of 13 patients who were studied with MRI within 3 months after the onset of symptoms, 11 had swollen temporomesial structures (unilateral, n=7; bilateral, n=4). After up to 9 months, the swelling had resolved in nine of ten re-evaluated patients. Of seven patients who were initially studied with MRI more than 3 months after disease onset, three had swollen temporomesial structures, one had a hyperintense, normal-sized hippocampus, and three had hyperintense and atrophic temporomesial structures. CONCLUSION: LE starts as an acute disease with uni- or bilateral swollen temporomesial structures that are hyperintense on fluid attenuation inversion recovery and T2-weighted sequences. Swelling and hyperintensity may persist over months to years, but in most cases progressive temporomesial atrophy develops.

Adult↗

PubMed2006

Molecular neuropathology of epilepsy-associated glioneuronal malformations.

Glioneuronal malformations (malformations of cortical development [MCD]) include focal cortical dysplasias (FCD) as well as highly differentiated glioneuronal tumors (i.e. gangliogliomas) and constitute frequent findings in patients with pharmacoresistent focal epilepsies. Tailored resection strategies evolved as promising treatment options and allow a systematic neuropathologic and molecular biologic examination of the epileptogenic area in these patients. The histopathologic appearance and immunophenotype of glioneuronal lesions are, however, characterized by numerous similarities and suggest impaired proliferation, migration, and differentiation of neural precursor cells to play a pathogenetic role. Recent studies point toward molecular alterations within a variety of genes and pathways involved in development of the central nervous system, neuronal growth, and maturation. Compromised signaling within insulin- or reelin-transduction cascades are common findings and were associated with specific MCD entities. Unraveling pathogenic mechanisms may advance refined classification systems for epilepsy-associated malformations and open new avenues for the development of targeted treatment strategies in pharmacoresistent focal epilepsies associated with cortical malformations.

Brain Neoplasms↗

PubMed2006

FLAIR-/T1-/T2-co-registration for image-guided diagnostic and resective epilepsy surgery.

OBJECTIVE: For technical reasons, T2-weighted and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI) sequences do not allow morphological orientation with high anatomic resolution, but they may show small epileptogenic lesions. Considering the peculiarities of diagnostic and resective epilepsy surgery the present study focused on the co-registration of various magnetic resonance sequences for guided epilepsy surgery. METHODS: Fifty patients (24 men; 26 women) aged 2 to 74 years (mean, 32 yr), in whom epileptogenic lesions were not readily identifiable on three-dimensional T1-weighted MRI scans underwent additional two-dimensional T2-weighted and FLAIR sequences before diagnostic and/or resective epilepsy surgery. FLAIR and/or T2-weighted images were co-registered to the T1-weighted data set and were displayed on the navigation station on site for guided invasive diagnostics and for resection according to an individualized resection plan. Postoperative MRI scanning was routinely performed for assessment of resection extent. RESULTS: Co-registered T1- and FLAIR-/T2-images allowed for image-guided intraoperative identification of all lesions (n = 50). Control MRI scans revealed that complete resection was performed as planned before the operation in 49 patients and incomplete resection was performed in one patient. Preliminary seizure outcome with a mean follow up of 14 months (range, 7-24 mo) was assigned according to the Engel classification: Class I, 78%; Class II, 12%; Class III, 4%; Class IV, 6%. CONCLUSION: Image guidance on the basis of image fusion/co-registration of T1- and FLAIR-/T2-images allows for intraoperative identification of otherwise poorly visible lesions on standard MRI sequences in good spatial resolution. Recall of this information during surgery from the navigation system's screen assists in achieving the goal of precise electrode placement, or complete resection of the lesion as well as of the perilesional epileptogenic tissue and improves the surgeon's intraoperative orientation.

Adolescent↗

PubMed2006

Stimulation mapping via implanted grid electrodes prior to surgery for gliomas in highly eloquent cortex.

OBJECTIVE: To evaluate whether preoperative mapping of higher cortical functions with subdural grid electrodes can help to maximize resection in functional areas and avoid permanent injury. METHODS: A consecutive series of 16 patients (female: n = 7, male: n = 9, mean age of 38 yr) with a history of seizures and without focal deficit was reviewed, harboring gliomas located in the dominant hemisphere adjacent to or in the F3 gyrus/Broca area (n = 11), parietal/perisylvian area (n = 5) and additionally the pre- or postcentral area (n = 15). All patients in this series were operated for cytoreductive purposes only and not for treatment of intractable seizures. To preoperatively define and intraoperatively tailor the extent of resection all patients had a presurgical grid implantation for functional brain mapping. RESULTS: No permanent morbidity/mortality was observed after grid implantation and resective surgery. On postoperative MRI the resection was complete (100%), nearly complete (>90%) in n = 9 and subtotal (60% to <90%) in n = 5 cases. Twice, only biopsies were taken according to the results of mapping. All patients with high-grade gliomas had adjuvant treatment with radiation and chemotherapy. After a mean follow up of 20.4 months, no tumor relapse or growth was seen in all cases of resection. CONCLUSION: Preoperative grid mapping is a safe and precise instrument to evaluate language and/or associated left perisylvian functions in patients with gliomas. It may be considered a valid alternative to awake craniotomy to maximize safe resection.

Adolescent↗

PubMed2006

Polymorphism in ABCA1 influences CSF 24S-hydroxycholesterol levels but is not a major risk factor of Alzheimer's disease.

The ATP-binding cassette transporter A1 (ABCA1) mediates reverse cholesterol transport, polymorphisms have been shown to influence the levels of cholesterol and of HDL and the risk of coronary artery disease. Since altered cholesterol metabolism is also involved in Alzheimer's disease (AD), the effects of two ABCA1 polymorphisms (G-395C promoter polymorphism (rs 2246293) and exonic R219K) on the risk of AD in 241 AD patients and 294 non-demented controls, and on CSF cholesterol and 24S-hydroxycholesterol in 74 AD patients and 42 non-demented controls were investigated. None of the investigated ABCA1 polymorphisms influenced the risk of AD. However, the ABCA1 G-395C polymorphism influenced CSF levels of 24S-hydroxycholesterol, but not of cholesterol, whereas the R219K influenced neither CSF levels of 24S-hydroxycholesterol nor cholesterol. Our data support the observation that ABCA1 polymorphisms influence cholesterol metabolism of the brain, but might not act as a major risk factor in AD.

ATP Binding Cassette Transporter 1↗

PubMed2005

Left hippocampal pathology is associated with atypical language lateralization in patients with focal epilepsy.

It is well recognized that the incidence of atypical language lateralization is increased in patients with focal epilepsy. The hypothesis that shifts in language dominance are particularly likely when epileptic lesions are located in close vicinity to the so-called language-eloquent areas rather than in more remote brain regions such as the hippocampus has been challenged by recent studies. This study was undertaken to assess the effect of lesions in different parts of the left hemisphere, lesions present during language acquisition, on language lateralization. We investigated 84 adult patients with drug-resistant focal epilepsy with structural lesions and 45 healthy control subjects with an established functional MRI language paradigm. Out of the 84 patients 43 had left hippocampal sclerosis, 13 a left frontal lobe lesion and 28 a left temporal-lateral lesion. All these lesions were likely to have been present during the first years of life during language acquisition. To assess the lateralization of cerebral language representation globally as well as regionally, we calculated lateralization indices derived from activations in four regions of interest (i.e. global, inferior frontal, temporo-parietal and remaining prefrontal). Patients with left hippocampal sclerosis showed less left lateralized language representations than all other groups of subjects (P < 0.005). This effect was independent of the factor of region, indicating that language lateralization was generally affected by a left hippocampal sclerosis. Patients with left frontal lobe or temporal-lateral lesions displayed the same left lateralization of language-related activations as the control subjects. Thus, the hippocampus seems to play an important role in the establishment of language dominance. Possible underlying mechanisms are discussed.

Adolescent↗

PubMed2005

MRI in the diagnosis of sporadic Creutzfeldt-Jakob disease: a study on inter-observer agreement.

According to the current WHO criteria, technical investigations included in the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) are electroencephalogram (EEG) and CSF-analysis for 14-3-3 proteins. MRI is not a criterion for the diagnosis of sCJD, although typical changes have been described. We investigated the reliability of MRI in the sCJD diagnosis, evaluated MRI sequences and compared MRI with EEG and 14-3-3. This study includes 193 consecutive suspected sCJD patients who had been referred to the German CJD Surveillance Unit from 2001 to 2003. Three observers independently analysed MRI scans, blinded to clinical data. MRI was rated as 'typical for sCJD' if increased signal intensity was detected in the caudate nucleus and putamen. We analysed 442 MRI scans [184 T2-weighted sequences, 132 fluid attenuated inversion recovery (FLAIR) sequences, 75 diffusion-weighted sequences and 51 proton-density weighted sequences]. Inter-observer agreement was 123 of 193 patients or 63.7% (overall kappa = 0.53). Sensitivity of MRI in clinically probable or autopsy-proven sCJD was 59.7% for Observer 1, 58.3% for Observer 2 and 70.8% for Observer 3; specificity was high (84.2, 89.5 and 81.6%, respectively). Diffusion-weighted sequences best showed the pathologic changes, followed by FLAIR. Periodic sharp and slow wave complexes were detected in the EEG in 32% (sensitivity), the 14-3-3 proteins in CSF were elevated in 91%. We conclude that the detection of hyperintense basal ganglia in MRI helps to improve the clinical diagnosis, and therefore, we propose to incorporate MRI in the diagnostic criteria for sCJD.

14-3-3 Proteins↗

PubMed2005

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.

Mutations in the fukutin-related protein (FKRP) have recently been demonstrated to cause limb girdle muscular dystrophy type 2I (LGMD2I), one of the most common forms of the autosomal recessive LGMDs in Europe. We performed a systematic clinical and muscle MRI assessment in 6 LGMD2I patients and compared these findings with those of 14 patients with genetically confirmed diagnosis of other forms of autosomal recessive LGMDs or dystrophinopathies. All LGMD2I patients had a characteristic clinical phenotype with predominant weakness of hip flexion and adduction, knee flexion and ankle dorsiflexion. These findings were also mirrored on MRI of the lower extremities which demonstrated marked signal changes in the adductor muscles, the posterior thigh and posterior calf muscles. This characteristic clinical and MRI phenotype was also seen in LGMD2A. However, in LGMD2A there was a selective involvement of the medial gastrocnemius and soleus muscle in the lower legs which was not seen in LGMD2I. The pattern in LGMD2A and LGMD2I were clearly different from the one seen in alpha-sarcoglycanopathy and dystrophinopathy type Becker which showed marked signal abnormalities in the anterior thigh muscles. Our results indicate that muscular MRI is a powerful tool for differentiating LGMD2I from other forms of autosomal recessive LGMDs and dystrophinopathies.

Adolescent↗

PubMed2005

Acute hebephrenia.

Explore the source record for details and available documents.

Activated Protein C Resistance↗

PubMed2005

Episodic depersonalization in focal epilepsy.

In this report a patient with episodic depersonalization is described. As the depersonalization episodes had been attributed to partial seizures, this patient was treated with antiepileptic medication. However, clinical evaluation with long-term video/EEG revealed no evidence of seizure activity during the depersonalization episodes. On the other hand, further evaluation revealed findings that are frequently associated with focal epilepsy. In addition to episodic depersonalization, this patient had secondary generalized seizures. The relationship between episodic depersonalization, temporal lobe pathology, and epilepsy is discussed against the background of this case.

Adult↗

PubMed2005

Distinct allelic variants of TSC1 and TSC2 in epilepsy-associated cortical malformations without balloon cells.

Epilepsy-associated malformations of cortical development (MCDs) comprise a variety of dysplastic and neoplastic lesions of yet undetermined molecular pathology. Histopathologic similarities between MCDs and dysplastic brain lesions in the autosomal inherited neurocutaneous phacomatosis tuberous sclerosis (TSC), which affects the TSC1 and/or TSC2 genes, suggest common pathogenetic mechanisms. Previous studies revealed different alterations of TSC1 and TSC2 in epilepsy-associated malformations and glio-neuronal tumors despite histopathologic similarities. In order to examine current clinico-pathologic classification systems of cortical malformations on the molecular level, we carried out a mutational analysis of TSC1 and TSC2 in a series of surgical specimens obtained from patients with FCD without Taylor type balloon cells (FCDIIa; n = 20), architectural dysplasias (FCDI; n = 15), nodular cortical heterotopias (NCH; n = 4), and heterotopic white matter neurons (WMNH; n = 19). In FCDIIa, abundant genomic polymorphisms were detected in TSC2 (intron 4) but no allelic variants observed in exon 17 of TSC1. This allelic distribution pattern is in contrast to findings in FCDI and WMNH but also to those previously reported in FCDIIb (Taylor's balloon cell type). The latter revealed increased frequencies of specific alleles only in TSC1. The determination of characteristic molecular genetic alterations in specific epilepsy-associated malformations will support a comprehensive clinico-pathologic classification system and help to identify molecular pathways with potential pathogenetic relevance. Our work is supported by DFG (SFB TR3 [AJB], DFG Bl 421/1-1 [IB]), BONFOR, and Deutsche Krebshilfe.

Alleles↗

PubMed2005

Limbic system abnormalities associated with Ammon's horn sclerosis do not alter seizure outcome after amygdalohippocampectomy.

PURPOSE: To evaluate whether limbic system abnormalities associated with Ammon's horn sclerosis alter seizure outcome after selective amgydalohippocampectomy. METHODS: In 45 patients with unilateral mesial temporal lobe epilepsy, histologically proven Ammon's horn sclerosis, and uneventful postoperative course, volumes of the hippocampus, hemisphere, amygdala, entorhinal cortex, mamillary body, and fornix were measured by using a T(1)-weighted 3-D gradient-echo sequence with roughly isotropic (1.17 x 1.17 x 1-mm) voxels. In addition, signal intensity of the hippocampus and of the temporal lobe white matter was visually assessed and graded on a coronal T(2)-weighted fast-spin-echo sequence with 2-mm-thick slices. Volumetric measurements and visual analysis were compared between seizure-free and non-seizure-free patients examined 12 months after surgery. RESULTS: Hippocampal, hemispheric, entorhinal cortex, mamillary body, and fornix volumes, but not amygdalar volumes, were significantly smaller on the operated-on than on the non-operated-on side and significantly smaller in patients compared with controls. No volume differences of the hippocampus, hemisphere, amygdala, entorhinal cortex, mamillary body, and fornix existed between seizure-free (Engel class IA) and non-seizure-free patients (Engel class IB-IV). Increased temporal lobe white matter signal was observed in 15 patients but did not alter seizure outcome. CONCLUSIONS: Limbic system abnormalities are not a surrogate marker to predict postsurgical seizure outcome in patients with unilateral Ammon's horn sclerosis.

Adolescent↗

PubMed2005

Unilateral intracarotid amobarbital procedure for language lateralization.

PURPOSE: The determination of language dominance as part of the presurgical workup of patients with pharmacoresistant epilepsies has experienced fundamental changes. With the introduction of noninvasive functional magnetic resonance imaging (fMRI), the number of patients receiving intracarotid amobarbital procedures (IAPs) for assessment of language dominance has decreased considerably. However, recent studies show that because of methodologic limitations of fMRI, IAP remains an important tool for language lateralization. The current study examines whether unilateral instead of bilateral IAP is an adequate way to apply IAP with reduced invasiveness. METHODS: We retrospectively examine the predictive value of unilateral IAP for the results of bilateral IAP based on a sample of 75 patients with various types of language dominance. Target parameters are the prediction of the language-dominant hemisphere and the identification of patients with atypical language dominance. For language assessment based on unilateral IAP, we introduce the measure hemispheric language capacity (HLC). RESULTS: Unilateral IAP performed on the side of intended surgery quantifies language capacity contralateral to the intended surgery. It detects atypical (bilateral or right) language dominance in the majority of patients. Experience with a separate series of 107 patients requiring presurgical language lateralization shows that in >80%, bilateral IAPs are redundant. CONCLUSIONS: Unilateral IAP is principally sufficient for language lateralization in the presurgical evaluation of patients with pharmacoresistant epilepsies. Necessity of bilateral IAP is restricted to few indications (e.g., callosotomy). In times of noninvasive language lateralization, we propose unilateral IAP as the method of choice for the verification of doubtful (bilateral) fMRI activation patterns.

Adolescent↗

PubMed2005

Cerebral embolism from left atrial myxoma leading to cerebral and retinal aneurysms: a case report.

Left atrial myxoma commonly leads to cerebral embolic ischemic stroke. The subsequent formation of cerebral aneurysms due to myxomatous emboli is a phenomenon that may lead to severe neurologic complications such as intracerebral hemorrhage. In addition to the formation of aneurysms in cerebral arteries, we report here the unique picture of a retinal involvement consisting in microaneurysm formation associated with myxomatous embolism.

Adult↗