Counting CAG repeats in the Huntington's disease gene by restriction endonuclease EcoP15I cleavage.

Huntington's disease (HD) is a progressive neurodegenerative disorder with autosomal-dominant inheritance. The disease is caused by a CAG trinucleotide repeat expansion located in the first exon of the HD gene. The CAG repeat is highly polymorphic and varies from 6 to 37 repeats on chromosomes of unaffected individuals and from more than 30 to 180 repeats on chromosomes of HD patients.

Automated analysis of data is inferior to visual analysis of ambulatory sleep apnea monitoring.

Background: Many ambulatory sleep apnea monitoring devices are equipped with software which allows an automated analysis of data as well as a visual analysis.

Objective: The Merlin system which records heart rate, snoring sound, efforts, oronasal flow, body position and oxygen saturation was investigated to identify proper parameter settings for the automated analysis and to compare the automated with the visual analysis in patients with mild obstructive sleep apnea syndrome (OSAS). Sensitivity and specificity of the visual and automated analysis of ambulatory monitoring in comparison with visual polysomnographic (PSG) analysis were determined.

Female infertility--effect of perinatal xenoestrogen exposure on reproductive functions in animals and humans.

Environmental chemicals with inherent estrogenic activity are supposed to be responsible for the decrease of quantity and quality of human sperms during the past 40 years. The current hypothesis is that estrogenic agents acting during fetal life may lead to impaired development of the testes and of the male reproductive tract in the human as well as in several wildlife species. However, from clinical and experimental data it is known, that estrogens may also lead to impairment of female reproductive functions.

Genetic and epigenetic effects on sexual brain organization mediated by sex hormones.

Alterations of sex hormone levels during pre- or perinatal sexual brain organization - responsible for long-term changes of gonadotropin secretion, sexual orientation, and gender role behavior - can be caused by: 1. Genetic effects, i.e.

Long-term impact of neonatal breast-feeding on body weight and glucose tolerance in children of diabetic mothers.

Objective: Offspring born to women with pregnancies complicated by diabetes are at increased childhood risk of developing obesity and impaired glucose tolerance (IGT). In population-based studies, breast-feeding has been shown to be protective against obesity and diabetes later in life. To date, the role of breast-feeding on offspring of diabetic mothers (ODM) has not been investigated in this context.

Successful stent-graft repair of a vertebrojugular arteriovenous fistula.

Purpose: To describe an apparently unreported endovascular means of treating a vertebral arteriovenous fistula (AVF) using a small-caliber stent-graft to permanently reconstruct the involved vessels.

Case Report: A 13-year-old girl presented with tinnitus caused by a high-flow AVF between the right extracranial vertebral artery and deep jugular vein arising from repeated internal jugular vein catheterization. A 4-mm-diameter balloon-expandable Jostent coronary stent-graft was placed in the vertebral artery via a percutaneous femoral access, with immediate and complete obliteration of the AVF and resolution of the tinnitus.

Molecules involved in reactive sprouting in the hippocampus.

Denervation of the hippocampus triggers reactive responses in neurons and glial cells in their affected strata in a temporally ordered fashion. Many of these responses have been studied extensively, focusing on the one hand on glial initiation and clearing responses during the degeneration phase and, on the other, on transneuronal reorganization and the newly adjusted physiological balance. We used the entorhinal cortex lesion (ECL) as a model system to study the cues that underlie the layer-specific sprouting response.

Perinatal 'programming' of insulin resistance in childhood: critical impact of neonatal insulin and low birth weight in a risk population.

Aim: Low birth weight may predispose to later insulin resistance and hyperinsulinaemia, but the pathophysiological mechanisms are unclear. The perinatal endocrine situation may play an important role, but has been little studied. Children of mothers with diabetes during pregnancy are an important risk population for later insulin resistance and hyperinsulinaemia.

Gestational diabetes as possible risk factor for Type I childhood-onset diabetes in the offspring.

Epidemiological, clinical, as well as experimental findings obtained during the past two decades in Germany suggest that gestational diabetes might be a predisposing factor for increased risk of Type I childhood-onset diabetes in the offspring, which could therefore be prevented-at least in part-by systematic diagnostic screening and correction of maternal hyperglycemia during pregnancy.

Slow IPSC kinetics, low levels of alpha1 subunit expression and paired-pulse depression are distinct properties of neonatal inhibitory GABAergic synaptic connections in the mouse superior colliculus.

Remodelling of visual maps in the superior colliculus (SC) depends on neuronal activity. Synaptic inhibition could contribute to this process because spontaneous spike discharge in the SC was modulated by GABA(A) receptor activation at postnatal days (P) 1-3. To investigate the functional capacity of GABAergic synaptic transmission at this early stage of development, whole-cell patch-clamp recordings were made from wide field neurons (WFNs) in horizontal slices comprising the superficial grey layer of the SC.

Maternal and paternal family history of diabetes in women with gestational diabetes or insulin-dependent diabetes mellitus type I.

Animal studies have shown that prenatal exposure to a diabetic intrauterine milieu leads to an increased risk in the female offspring of developing gestational diabetes (GD). In the present study, the family history of non-insulin-dependent diabetes mellitus type II (NIDDM) and insulin-dependent diabetes mellitus type I (IDDM) was evaluated in 106 women with GD, as compared to 189 women with IDDM. In GD patients, the prevalence of diabetes was significantly greater in mothers than in fathers (p = 0.

Perforant path lesion induces up-regulation of stathmin messenger RNA, but not SCG10 messenger RNA, in the adult rat hippocampus.

In this study, we performed in situ hybridization analysis of the expression pattern of two growth-associated proteins, stathmin and SCG10, in the hippocampus after unilateral lesion of the perforant pathway, the main excitatory input from the entorhinal cortex to the hippocampus. Stathmin is one of the major neural-enriched cytosolic phosphoproteins and a potential target of cyclic-AMP-dependent kinases [Jin L. W.

Pancreatic islet transplantation in diabetic pregnant rats prevents acquired malformation of the ventromedial hypothalamic nucleus in their offspring.

Exposure to a diabetic intrauterine environment leads to diabetogenic disturbances throughout later life in rats. This is accompanied by a fetally acquired dysplasia of the ventromedial hypothalamic nucleus (VMN) which is decisively involved in the regulation of metabolism. We investigated whether malformation of the VMN is preventable by normalization of gestational hyperglycaemia.

A readily releasable pool of single inhibitory boutons in culture.

The number of presynaptic vesicles that are immediately available for release, the readily releasable pool (RRP), is a strong determinant of synaptic strength and plasticity. The properties of the RRP in individual GABAergic synapses were examined in superior colliculus cultures. The RRP was depleted by high frequency trains and cumulative evoked IPSC amplitudes (CA) were calculated.

Long-term survival after radical resection of a primary angiosarcoma of the innominate vein.

The case updated here demonstrates the longest survival that has been observed so far after radical resection of primary angiosarcoma of the left innominate vein, which is the second case that has ever been reported to date. Radical resection was performed after preoperative radiotherapy. The venous continuity was restored by expanded polytetrafluoroethylene graft interposition.

Pulmonary function after thoracoscopic thymectomy versus median sternotomy for myasthenia gravis.

Background: Impaired pulmonary function due to myasthenia gravis (MG) is further compromised by thymectomy, which is necessary in most cases. Thoracoscopic thymectomy (tThx) can achieve the same resection and functional improvement of MG as median sternotomy (sThx). The possible advantage of tThx in maintaining better perioperative lung function was quantified.

The effect of heat shock on 20S/26S proteasomes.

We have studied the consequences of heat shock on 20S/26S proteasome activity and activation, the proteasomal subunit composition, proteasome assembly, subunit mRNA stability as well as on the intracellular distribution of proteasomes. Our data show that heat shock locks 20S proteasomes in their latent inactive state and impairs further activation of the 26S proteasome by ATP. Proteasome mRNA levels are decreased after heat shock and the assembly of the proteasome complex is inhibited.

Hypothalamic nuclei are malformed in weanling offspring of low protein malnourished rat dams.

Maternal low protein malnutrition during gestation and lactation (LP) is an animal model frequently used for the investigation of long-term deleterious consequences of perinatal growth retardation. Both perinatal malnutrition and growth retardation at birth are risk factors for diabetic and cardiovascular disturbances in later life. The pathophysiologic mechanisms responsible are unknown.

Schwannoma with angiosarcoma. Report of a case and comparison with other types of nerve tumors with angiosarcoma.

Background: Schwannoma with angiosarcomatous change is a rare tumor, the clinical characteristics of which have not been analyzed.

Methods: A patient with schwannoma with angiosarcoma arising in the midneck and clinically mimicking a carotid body paraganglioma is described with a literature review of all previously reported cases and a comparison of their clinical features with those of schwannoma with conventional malignant transformation and cases of neurofibroma and malignant peripheral nerve sheath tumor (MPNST) with angiosarcoma.

Results: There are four reported cases, including the present case.

Mechanisms of neurodegeneration after paediatric brain injury.

Trauma to the developing brain constitutes an unexplored field. The few studies attempting to model and study paediatric head trauma, the leading cause of death and disability in the paediatric population, have revealed interesting aspects and potential targets for future research. One feature unique to the developing brain is overactivation by trauma of ongoing physiological programmed neuronal death (apoptosis).

Characterisation of the newly identified human Ump1 homologue POMP and analysis of LMP7(beta 5i) incorporation into 20 S proteasomes.

Biogenesis of mammalian 20 S proteasomes occurs via precursor complexes containing alpha and unprocessed beta subunits. A human homologue of the yeast proteasome maturation factor Ump1 was identified in 2D gels of 16 S precursor preparations and designated as POMP (proteasome maturation protein). We show that POMP is detected only in precursor fractions and not in fractions containing mature 20 S proteasome.

Femorodistal PTFE bypass grafting for severe limb ischaemia: results of a prospective clinical study using a new distal anastomotic technique.

Objectives: To analyse graft patency and limb salvage following femorodistal bypass with ePTFE using a new distal anastomotic technique. Design prospective non-randomised study.

Material And Methods: One hundred and twenty-nine patients (M:F; 2.

Shortcomings of low-cost imaging systems for viewing computed radiographs.

Objective: To assess potential advantages of a new PC-based viewing tool featuring image post-processing for viewing computed radiographs on low-cost hardware (PC) with a common display card and color monitor, and to evaluate the effect of using color versus monochrome monitors.

Materials And Methods: Computed radiographs of a statistical phantom were viewed on a PC, with and without post-processing (spatial frequency and contrast processing), employing a monochrome or a color monitor. Findings were compared with the viewing on a radiological Workstation and evaluated with ROC analysis.