The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1".

Linkage studies of families ascertained through patients with juvenile myoclonic epilepsy (JME) suggest that an HLA-linked susceptibility gene on chromosome 6, designated "EJM1," predisposes to a group of idiopathic generalized epilepsies (IGEs) comprising JME, juvenile absence epilepsy (JAE), childhood absence epilepsies (CAE), and epilepsies with generalized tonic-clonic seizures (GTCS). To explore the EJM1-related phenotypic spectrum, we conducted linkage studies with HLA-DQ alpha restriction fragment length polymorphisms in 44 families ascertained through patients with CAE or JAE. Our results for the entire group of families provide evidence against a major susceptibility locus for idiopathic absence epilepsies and broader spectra of IGEs in the HLA region.

Brain perfusion abnormalities in Gilles de la Tourette's syndrome.

Background: Functional brain imaging with technetium-99m d,l-hexamethyl propyleneamine oxime (HMPAO) Single Photon Emission Tomography (SPET) allows us to explore the cerebral pathophysiology of Gilles de la Tourette's Syndrome (GTS).

Method: Fifty patients and 20 controls were examined. Patients were rated for tic severity and mood.

Influence of cytokines (IL-1 alpha, IL-3, IL-11, GM-CSF) on megakaryocyte-fibroblast interactions in normal human bone marrow.

The evolution of myelofibrosis accompanying chronic myeloproliferative disorders (CMPDs) is often linked with megakaryopoiesis. However, it is not known whether or to what extent megakaryocytes of normal human bone marrow are capable of stimulating fibroblast growth. For this reason, an in vitro study was performed to elucidate possible cytokine-dependent interactions between megakaryocytes and fibroblasts derived from healthy volunteers.

Beta-amyloid precursor protein is modified with O-linked N-acetylglucosamine.

The beta-amyloid precursor protein (APP) has been implicated in the etiology of Alzheimer's disease (Kang et al.: Nature 325:733-736, 1987; Selkoe: Science 248:1058-1060, 1990; Selkoe: In Cowan et al. (eds): "Annual Review of Neuroscience.

Functional involvement of sciatic nerve-derived versican- and decorin-like molecules and other chondroitin sulphate proteoglycans in ECM-mediated cell adhesion and neurite outgrowth.

We have previously described two proteoglycans from human sciatic nerve which are immunochemically related to the chondroitin sulphate proteoglycans versican and decorin. The chondroitin sulphate of the versican-like molecule and the core protein of the decorin-like molecule have been found previously to be up-regulated after lesioning the adult mouse sciatic nerve. To investigate if the versican- and decorin-like molecules are involved in cell-extracellular matrix interactions, we studied the effect of both molecules on cell adhesion.

Up-regulation of a chondroitin sulphate epitope during regeneration of mouse sciatic nerve: evidence that the immunoreactive molecules are related to the chondroitin sulphate proteoglycans decorin and versican.

After transection of adult mouse sciatic nerve, the expression of a chondroitin sulphate epitope recognized by the monoclonal antibody 473-HD (mAb 473-HD) was found to be up-regulated. The epitope was localized immunocytochemically mainly in Schwann cell basal laminae and, more weakly, also in the endoneurium. In cultures of mouse dorsal root ganglion cells, Schwann cells expressed high levels but fibroblasts only low levels of the epitope.

Comparison of valvular resistance, stroke work loss, and Gorlin valve area for quantification of aortic stenosis. An in vitro study in a pulsatile aortic flow model.

Background: Valvular resistance and stroke work loss have been proposed as alternative measures of stenotic valvular lesions that may be less flow dependent and, thus, superior over valve area calculations for the quantification of aortic stenosis. The present in vitro study was designed to compare the impacts of valvular resistance, stroke work loss, and Gorlin valve area as hemodynamic indexes of aortic stenosis.

Methods And Results: In a pulsatile aortic flow model, rigid stenotic orifices in varying sizes (0.

Secretion of cytokines (interleukins-1 alpha, -3, and -6 and granulocyte-macrophage colony-stimulating factor) by normal human bone marrow megakaryocytes.

The effects of cytokine stimulation [recombinant human interleukin (rhIL)-1 alpha, rhIL-3, rhIL-6, rhIL-11, and rh granulocyte-macrophage colony-stimulating factor (GM-CSF)] on the secretory activity of normal human megakaryocytes were studied by means of the reverse hemolytic plaque assay (RHPA) in enriched cell preparations. This test facilitates an extremely sensitive determination of cytokine secretion at the single-cell level, together with the clear-cut identification of each immunostained (CD61) secretory active megakaryocyte. Moreover, the reverse transcriptase-polymerase chain reaction (RT-PCR) was used to investigate the expression of IL-6, IL-6 receptor (IL-6R), IL-9, IL-10, IL-12, and IL-13 mRNA in highly concentrated megakaryocyte preparations.

The initiation of de novo methylation of foreign DNA integrated into a mammalian genome is not exclusively targeted by nucleotide sequence.

The de novo methylation of foreign DNA integrated into the mammalian genome is a fundamental process whose mechanism has not yet been elucidated. We have studied de novo methylation in adenovirus type 12 (Ad12) genomes inserted into the genomes of Ad12-induced hamster tumor cells. De novo methylation of Ad12 DNA, which is not methylated in the virion, is initiated in two paracentrally located regions and spreads from there across the integrated Ad12 genomes.

Influence of cytokine stimulation (granulocyte macrophage-colony stimulating factor, interleukin-3 and transforming growth factor-beta-1) on adhesion molecule expression in normal human bone marrow fibroblasts.

Interactions between stromal cells or extracellular matrix and hematopoietic cells are important factors for the very complex processes associated with differentiation and maturation in the bone marrow. To elucidate these multifold processes, the expression pattern of various adhesion molecules was studied on enriched fibroblastic populations derived from healthy volunteers. CD44 (homing cell adhesion molecule) and very late activation antigen beta 1 (VLA beta 1; CD29) could be demonstrated on almost all fibroblasts without an alteration following cytokine stimulation.

Imaging of the apparent diffusion coefficient for the evaluation of cerebral metabolic recovery after cardiac arrest.

The apparent diffusion coefficient (ADC) of water is a sensitive indicator of water and ion homeostasis of brain. Resuscitation of the brain after cardiac arrest, the most frequent reason for global cerebral ischemia under clinical conditions, depends critically on the reversal of disturbances of water and ion homeostasis. We, therefore, investigated whether ADC imaging can be used to monitor the development and reversal of ischemic brain injury during and after cardiac arrest.

CD34+ human hemopoietic progenitor cells of the bone marrow differ from those of the peripheral blood: an immunocytochemical and morphometric study.

CD34+ progenitor cells were harvested from bone marrow and peripheral blood from 10 healthy donors by immunomagnetic isolation and enrichment procedures. The CD34+ cell population was investigated using a battery of enzyme reactions and monoclonal antibodies on cytospin preparations. Additionally, morphometric measurements were carried out and also liquid suspension culture studies were performed to ascertain vitality and stem cell character.

The L2/HNK-1 carbohydrate is carried by the myelin associated glycoprotein and sulphated glucuronyl glycolipids in muscle but not cutaneous nerves of adult mice.

We have previously shown that myelinating Schwann cells associated with motor, but not sensory, axons in peripheral nerves of adult mice express the L2/HNK-1 carbohydrate epitope. This carbohydrate structure carried by glycolipids and neural cell adhesion molecules has been suggested to specifically foster regrowth of motor as opposed to sensory axons after infliction of a lesion. To determine which molecular components may be the carriers of the L2 carbohydrate in motor axon-associated myelinating Schwann cells, we have isolated the purely sensory, cutaneous branch and the mixed sensory and motor muscle branch of the femoral nerve of adult mice, isolated the myelin fraction thereof and analysed the molecules expressing the L2 carbohydrate by several immunochemical methods.

Recognition of mental state terms. Clinical findings in children with autism and a functional neuroimaging study of normal adults.

Background: The mind's ability to think about the mind has attracted substantial research interest in cognitive science in recent decades, as 'theory of mind'. No research has attempted to identify the brain basis of this ability, probably because it involves several separate processes. As a first step, we investigated one component process-the ability to recognise mental state terms.

[Preoperative evaluation of drug resistant focal epilepsies with 123I-iomazenil SPECT. Comparison with vidio/EEG monitoring and postoperative results].

SPECT with the benzodiazepine receptor antagonist 123I-Iomazenil was performed in 33 patients with intractable partial seizures for pre-operative evaluation. The results combined with MRI and 99mTc-HMPAO-SPECT findings were compared with the video-assisted EEG monitoring ("gold standard") which localised the focus in 25 patients. 11 patients underwent surgical resection of the epileptogenic area and became seizure-free for a period up to 13 months.

Late transcripts of adenovirus type 12 DNA are not translated in hamster cells expressing the E1 region of adenovirus type 5.

Hamster cells are completely nonpermissive for the replication of human adenovirus type 12 (Ad12), whereas types 2 and 5 can replicate in hamster cells. The Ad5-transformed hamster cell line BHK297-C131, which carries the left terminal 18.7% of the Ad5 genome and expresses at least the viral E1A region, can somehow complement Ad12 DNA replication and the transcription of the late Ad12 genes.

Dorso-ventral polarity of the zebrafish embryo is distinguishable prior to the onset of gastrulation.

We describe a set of observations on developing zebrafish embryos and discuss the main conclusions they allow:(1) the embryonic dorso-ventral polarity axis is morphologically distinguishable prior to the onset of gastrulation; and (2) the involution of deep layer cells starts on the prospective dorsal side of the embryo. An asymmetry can be distinguished in the organization of the blastomeres in the zebrafish blastula at the 30% epiboly stage, in that one sector of the blastoderm is thicker than the other. Dye-labelling experiments with DiI and DiO and histological analysis allow us to conclude that the embryonic shield will form on the thinner side of the blastoderm.

Determination of structural elements of the L2/HNK-1 carbohydrate epitope required for its function.

The L2/HNK-1 carbohydrate epitope has been shown to carry an unusual 3'-sulfoglucuronic acid linked O-glycosidically through a neolactosyl-type backbone to a ceramide residue. Using monoclonal antibodies, the same or a closely related epitope has also been detected N-glycosidically linked to glycoproteins, amongst them several neural cell adhesion molecules. We used synthetic glycolipids carrying sulfated or non-sulfated glucuronic acid attached to ceramide through glycans of different length to show that not only the sulfated glucuronic acid but also the neolactosyl-type backbone is essential for the recognition of the L2/HNK-1 carbohydrate by a monoclonal antibody, its binding to laminin and its role in neural cell migration and outgrowth of processes from neurons and astrocytes.

[5-10-year results with the straight-shaft Müller prosthesis].

103 patients with 106 Müller straight stem prostheses could be evaluated clinically and radiologically after an average follow-up period of 6.8 years (range 5 to 10 ys.).

Magnetic activated cell sorting (MACS)--a new immunomagnetic method for megakaryocytic cell isolation: comparison of different separation techniques.

Megakaryocytes are difficult to isolate because of their fragility, their tendency to aggregate, and their varying sizes. For purification of cells at different stages of maturation and of different sizes (ploidy classes) we developed an immunomagnetic cell sorting method (MACS) to enrich the whole spectrum of the megakaryocytic cell lineage. The use of small magnetic beads coupled to various antibodies and labelling with fluorescent antibodies allowed direct analysis of enrichment and evaluation of the isolated fraction without further staining or detachment procedures.

[Results of histological studies of the flexor tendon sheath in 35 flexor tenosynovectomies in carpal tunnel syndrome].

This paper presents the results of histologic studies conducted in the context of tenosynovectomy of the flexor tendons to treat carpal tunnel syndrome. The most common findings were inflammatory changes of the synovial sheath, vascular pathology and fibrous changes of the connective tissue.

[123I-iomazenil- and 99mTc-HMPAO in the diagnosis of focal epilepsies: a comparison of untreated and treated patients].

The purpose of this study was to compare HMPAO- and IMZ-SPECT findings in treated and untreated patients with focal epilepsies. We examined 20 patients (untreated 13; treated 7). All patients had a normal CT and/or MRI scan.

Nucleotide sequence of human adenovirus type 12 DNA: comparative functional analysis.

A fresh inoculum of human adenovirus type 12 (Ad12) was obtained from the American Type Culture Collection and passaged once on human embryonic kidney cells, and Ad12 DNA was prepared from the first-passage yield to avoid higher passages which might have generated host-virus DNA recombinants. The 18 PstI fragments of Ad12 DNA were cloned into the pBluescript KS vector, and the entire nucleotide sequence of both strands from all 18 fragments was determined by using successive oligodeoxyribonucleotide primers. Ad12 DNA extends over 34,125 nucleotide pairs, and its molecular weight is calculated to be about 22 x 10(6).

[A meta-analysis of the effectiveness of gestalt therapy].

This metaanalytical assessment of evaluation research in the field of Gestalt therapy has been conducted on the basis of 38 studies which took place between 1970 and 1986. Its scope is substantially broader than the metaanalysis of Smith, Glass and Miller (1980) or the secondary analysis of Grawe's Berner Workgroup documented in Forschungsgutachten zu Fragen eines Psychotherapeutengesetzes (1991). The results indicate Gestalt therapy to be an effective psychotherapeutic treatment which is not inferior to other comparable methods of treatment.