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Biomedical subjects

E Hauser

Publications and source records attributed to E Hauser.

At least 19 recordsLinked to original sources
PubMed2005

SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.

Severe myoclonic epilepsy in infancy (SMEI), severe idiopathic generalized epilepsy of infancy (SIGEI) with generalized tonic clonic seizures (GTCS), and myoclonic astatic epilepsy (MAE) may show semiological overlaps. In GEFS+ families, all three phenotypes were found associated with mutations in the SCN1A gene. We analyzed the SCN1A gene in 20 patients with non-familial myoclonic astatic epilepsy -- including 12 probands of the original cohort used by Doose et al. in 1970 to delineate MAE. In addition, 18 patients with sporadic SIGEI -- mostly without myoclonic-astatic seizures -- were analyzed. Novel SCN1A mutations were found in 3 individuals. A frame shift resulting in an early premature stop codon in a now 35-year-old woman with a borderline phenotype of MAE and SIGEI (L433fsX449) was identified. A splice site variant (IVS18 + 5 G --> C) and a missense mutation in the conserved pore region (40736 C --> A; R946 S) were detected each in a child with SIGEI. We conclude that, independent of precise syndromic delineation, myoclonic-astatic seizures are not predictive of SCN1A mutations in sporadic myoclonic epilepsies of infancy and early childhood.

Child↗
PubMed2003

Spectrum of cognitive, behavioural and emotional problems in children and young adults with Down syndrome.

In comparison to most other groups with intellectual disability individuals with Down syndrome are at lower risk for significant psychopathology, although relative to their typically developing peers they have higher rates of behavioural and emotional problems. A total of 43 Down syndrome patients (21 females and 22 males), who ranged in age from 5.33 to 30.58 years, were examined for the presence of age-related changes in the spectrum of externalizing and internalizing problems. Intelligence tests included Hamburg-Wechsler-Intelligenz Test für Kinder III (HAWIK-III), Hamburg-Wechsler-Intelligenz Test für Erwachsene (HAWIE-R) and Kaufman-Assessment-Battery for Children, German Version (K-ABC). Behavioural and emotional problems were assessed by the the Strengths and Difficulties Questionnaire for Parents, German Version (SDQ) and the Clinical Assessment Scale for Child and Adolescent Psychopathology (CASCAP). IQ was significantly inversly related to the age of patients. Externalizing behaviours (dominant, opposing/refusing, impulsiveness, inattention and increased motor activity) were significantly higher in the 5-10 years old group, whereas internalizing behaviours (shy/insecure, low self confidence, decreased motor activity) where more prevalent in adolescents and adults (10-30 years). Possible relationships between this age-related changes and increased risks of later-onset psychopathology (depression and dementia) are discussed.

Adolescent↗
PubMed2001

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

The skeletal muscle ryanodine receptor gene (RYR1; OMIM 180901) on chromosome 19q13.1 encodes the skeletal muscle calcium release channel. To date, more than 25 missense mutations have been identified in RYR1 and are associated with central core disease (CCD; OMIM 117000) and/or the malignant hyperthermia susceptibility phenotype (MHS1; OMIM 145600). The majority of RYR1 mutations are clustered in the N-terminal hydrophilic domain of the protein. Only four mutations have been identified so far in the highly conserved C-terminal region encoding the luminal/transmembrane domain of the protein which forms the ion pore. Three of these mutations have been found to segregate with pure or mixed forms of CCD. We have screened the C-terminal domain of the RYR1 gene for mutations in 50 European patients, diagnosed clinically and/or histologically as having CCD. We have identified five missense mutations (four of them novel) in 13 index patients. The mutations cluster in exons 101 and 102 and replace amino acids which are conserved in all known vertebrate RYR genes. In order to study the functional effect of these mutations, we have immortalized B-lymphocytes from some of the patients and studied their [Ca(2+)](i) homeostasis. We show that lymphoblasts carrying the newly identified RYR1 mutations exhibit: (i) a release of calcium from intracellular stores in the absence of any pharmacological activators of RYR; (ii) significantly smaller thapsigargin-sensitive intracellular calcium stores, compared to lymphoblasts from control individuals; and (iii) a normal sensitivity of the calcium release to the RYR inhibitor dantrolene. Our data suggest the C-terminal domain of RYR1 as a hot spot for mutations leading to the CCD phenotype. If the functional alterations of mutated RYR channels observed in lymphoblastoid cells are also present in skeletal muscles this could explain the predominant symptom of CCD, i.e. chronic muscle weakness. Finally, the study of calcium homeostasis in lymphoblastoid cells naturally expressing RYR1 mutations offers a novel non-invasive approach to gain insights into the pathogenesis of MH and CCD.

Amino Acid Sequence↗
PubMed2000

Effects of transdermal nicotine on cognitive performance in Down's syndrome.

Down's syndrome involves age-dependent neuropathological and neurochemical changes similar to Alzheimer's disease, with cholinergic deficits being the most consistent. There is currently no proven treatment for Down's syndrome. We investigated the effect of nicotine-agonistic stimulation with 5 mg transdermal patches, compared with placebo, on cognitive performance in five adults with the disorder. Improvements possibly related to attention and information processing were seen for Down's syndrome patients compared with healthy controls. Our preliminary findings are encouraging, although not generalizable because of small numbers.

Administration, Cutaneous↗
PubMed2000

A taurine and caffeine-containing drink stimulates cognitive performance and well-being.

Caffeine- and taurine-containing drinks have been on the European market for about a decade, and research on the individual constituents of these drinks indicates an improvement in cognitive performance resulting from consumption of such drinks. In this double-blind, placebo-controlled study using 10 graduate students, we obtained the P300 components of event-related potential (ERP) waveforms following an auditory oddball paradigm, measured motor reaction time, and applied the d2 test for the assessment of attention. Status of mood was assessed by the "Basler-Befindlichkeitsbogen" questionnaire, a standard test for evaluation of feelings of well-being. Measurements were made at night, prior to and starting one hour after consumption of energy drink ingredients or placebo. At the end of the experiment (midnight), P300 latency and motor reaction time were significantly longer compared with baseline measurements in the placebo group, but were unchanged in the energy drink group. In the test system for evaluating feelings of well-being, total scores, vitality scores and social extrovertedness scores were significantly decreased in the placebo group but not in the energy drink group. The findings clearly indicate that the mixture of three key ingredients of Red Bull Energy Drink used in the study (caffeine, taurine, glucuronolactone) have positive effects upon human mental performance and mood. These effects may be mediated by the action of caffeine on purinergic (adenosinergic) receptors and taurine modulation of receptors. As half of the study cohort were non-caffeine users, the described effects cannot be explained in terms of the restoration of plasma caffeine levels to normal following caffeine withdrawal.

Adult↗
PubMed2000

Prolonged generalized epileptic seizures triggered by breath-holding spells.

We report a 3-year-old female with anoxic-epileptic seizures. Beginning at 11 months of age, she had repeated breath-holding spells with transition into generalized tonic-clonic seizures or status epilepticus. Interictal electroencephalography exhibited no abnormalities. A multidisciplinary diagnostic approach revealed a severely disturbed mother-daughter relationship that was the trigger of the breath-holding spells. Psychotherapy for the mother and daughter led to cessation of the breath-holding spells and, consequently, of the anoxic-epileptic seizures. Her further development was largely normal. We discuss the etiology and treatment of anoxic-epileptic seizures. This case is the first reported case of anoxic epileptic seizures that responded to psychologic rather than antiepileptic treatment. We advocate an initial psychologic assessment to help determine the appropriate treatment in children with recurrent anoxic-epileptic seizures.

Apnea↗
PubMed2000

Familial idiopathic West syndrome.

Two families, each with occurrence of West syndrome in two siblings, are presented. Monozygotic twins in family 1 developed infantile spasms at the age of 4 months. Two female siblings in family 2 started to have seizures at the age of 6 months, but 2 years apart. The family history; development prior to West syndrome; clinical, electroencephalographic, and neuroradiologic findings; diagnostic work-up; and treatment are described. The outcome in family 1 (follow-up after 2 years) showed no conspicuous findings on physical and neurologic examination, and psychomotor development appropriate to cognitive, motor, and language developmental age in both twins. In family 2 (follow-up after 3 and 5 years), the older sister only was one standard deviation below mean in intellectual developmental age. Simultaneous occurrence of infantile spasms in both siblings from these two families but with variable clinical expression suggests there is a genetic susceptibility and variable phenotypic expression. Long-term follow-up will demonstrate whether these cases may be classified as "familial idiopathic West syndrome."

Adult↗
PubMed1999

Overexpression of DNAse I in brain of patients with Down syndrome.

Human DNAse I (EC 3.1.21.1) is an enzyme most probably involved in apoptotic processes. Splicing of the DNAse I primary transcript in normal and apoptotic cells into up to 20 splicing forms and the recent description of a different family of caspase-activated DNAses, hampered studies on the role of DNAse I in apoptosis research. Performing gene hunting in fetal brain of patients with DS we found a sequence with 100% homology to DNAse I and this formed the Rationale for studies in adult DS brain. It was therefore the aim of the study to evaluate DNAse I-mRNA steady state levels in DS brain using adult brain without brain pathologies and Alzheimer's Disease (AD) brain as control, in order to rule out that DNAse I--overexpression may not be specific for DS but rather reflecting apoptosis per se, a hallmark of both disorders. Determination of DNAse I-mRNA steady state levels was carried out by a blotting method in frontal, parietal, temporal occipital lobe and cerebellum. We found significantly increased DNAse I transcripts in brain of DS and AD both, when normalized versus the house-keeping gene beta actin or total RNA. We demonstrate the significant increase of DNAse I--transcript in the pathogenesis of DS and AD suggesting a role for this enzyme in the apoptotic process known to occur in both disorders. We are now going to carry out protein and enzyme activity levels in our laboratory to confirm our findings at the transcriptional level.

Adult↗
PubMed1999

[Calcifying aortic valve stenosis and occult gastrointestinal hemorrhage (Heyde syndrome): description of 2 cases].

The coincidence of aortic valve stenosis and cryptogenic gastrointestinal bleeding usually from angiodysplasia of the cecum and ascending colon has been called Heyde syndrome. The pathophysiologic link between both remains unclear and may be due to subtle changes in plasmatic coagulation. There are some statistic and numerous casuistic reports, and recently the existence of the syndrome has been questioned. We describe two cases of aortic valve stenosis and cryogenic gastrointestinal bleeding in which bleeding subsided after replacement with a bioprosthesis. We give an overview of the current literature.

Aged↗
PubMed1999

Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice.

It is commonly accepted, that regenerative capacity of striated muscle is confined to skeletal muscle by activation of satellite cells that normally reside quiescent between the plasmalemma and the basement membrane of muscle fibers. Muscular dystrophies are characterized by repetitive cycles of de- and regeneration of skeletal muscle fibers and by the frequent involvement of the cardiac muscle. Since during the longstanding course of muscular dystrophies there is a permanent demand of myogenic progenitors we hypothesized that this may necessitate a recruitment of additional myogenic precursors from an undifferentiated, permanently renewed cell pool, such as bone marrow (BM) cells. To this end normal and dystrophic (mdx) female mice received bone marrow transplantation (BMT) from normal congenic male donor mice. After 70 days, histological sections of skeletal and cardiac muscle from BMT mice were probed for the donor-derived Y chromosomes. In normal BMT recipients, no Y chromosome-containing myonuclei were detected, either in skeletal or in cardiac muscle. However, in all samples from dystrophic mdx skeletal muscles Y chromosome-specific signals were detected within muscle fiber nuclei, which additionally were found to express the myoregulatory proteins myogenin and myf-5. Moreover, in the hearts of BMT-mdx mice single cardiomyocytes with donor derived nuclei were identified, indicating, that even cardiac muscle cells are able to regenerate by recruitment of circulating BM-derived progenitors. Our findings suggest that further characterization and identification of the BM cells capable of undergoing myogenic differentiation may have an outstanding impact on therapeutic strategies for diseases of skeletal and cardiac muscle.

Animals↗
PubMed1997

Auditory evoked potentials in young patients with Down syndrome. Event-related potentials (P3) and histaminergic system.

Subjects with Down syndrome exhibit various types of cognitive impairment. Besides abnormalities in a number of neurotransmitter systems (e.g. cholinergic), histaminergic deficits have recently been identified. Brainstem auditory evoked potentials (BAEPs) and auditory event-related potentials (ERPs), were recorded from 10 children (aged 11-20 years) with Down syndrome and from 10 age- and sex-matched healthy control subjects. In Down subjects, BAEPs revealed shortened latencies for peaks III and V with shortened interpeak latencies I-III and I-V. ERPs showed a delay of components N1, P2, N2 and P3. In addition, subjects with Down syndrome failed to show P3 amplitude reduction during repeated stimulation. To evaluate the cognitive effects of histaminergic dysfunction, ERPs were recorded from 12 healthy adults (aged 20-28 years) before and after antihistaminergic intervention (pheniramine) compared to placebo. Whereas components N1, P2, N2 remained unchanged after H1-receptor antagonism, P3 latency increased and P3 amplitude showed no habituation in response to repeated stimulation. The results suggest that the characteristic neurofunctional abnormalities present in children with Down syndrome must be the consequence of a combination of structural and neurochemical aberrations. The second finding was that antihistaminergic treatment affects information processing tested by ERPs similar to that seen with anticholinergic treatment.

Adolescent↗
PubMed1997

Use of non-pneumatic antishock garments for ruptured abdominal aortic aneurysm.

Two cases of near-fatal aortic abdominal aneurysm (AAA) are described which were successfully stabilized by a new principle for exerting abdominal compression, the non-pneumatic medical antishock trousers (NP-MAST). Obviously, the compression obtained with the NP-MAST suffices for this dramatic emergency. Moreover, compared with pneumatic antishock garments (PASG), the NP-MAST has the advantage of being light, independent of flight height and unable to produce dangerously high pressures. Moreover, it contains no manometers, which could detract the doctor's attention from more important measures. The need for endotracheal intubation in advance to application of any kind of abdominal compression (PASG or NP-MAST) is stressed.

Aged↗
PubMed1996

Prognosis of childhood epilepsy in newly referred patients.

The aim of this study was to investigate the prognosis of childhood epilepsy and to analyze prognostic factors in addition to remission rate in a follow-up of newly referred patients. Two hundred eighty-one patients were followed for a mean period of 5.3 years. Overall, 253 patients (90%) achieved 1-year remission. The beginning of a 1-year seizure-free period was achieved in 77.9% by 1 year, in 84% by 2 years and in 88.6% by 3 years after onset of treatment. Early onset of seizures, symptomatic etiology, and neurologic handicap predicted a worse prognosis. In 44 of 253 children with complete suppression of seizures for 1 year, relapses occurred within the follow-up period. In one child with a relapse, remission could not be achieved in the 2nd year thereafter. In conclusion, our study shows a good prognosis for most children with epilepsy, especially in patients with idiopathic epilepsy and late onset of seizures and without neurologic dysfunction. Moreover, our data strongly suggest that the long-term pattern of seizure control is largely established during the first 2 years of treatment.

Adolescent↗
PubMed1996

Brainstem auditory evoked potentials and visually evoked potentials in young patients with IDDM.

OBJECTIVE: To investigate whether young IDDM patients develop central nervous dysfunction and to establish a possible relationship with various disease parameters. RESEARCH DESIGN AND METHODS: Thirty-two patients, aged 13.5 +/- 2 years, with disease duration of 6 +/- 2.6 years and age of onset of 7.7 +/- 3.2 years (group 1), and 21 patients with short-term disease, age 9.7 +/- 3.5 years, duration of disease < 2 years and age of onset of 9.4 +/- 3.3 years (group 2) were compared with age- and sex-matched control subjects. Exclusion criteria were clinical signs of neuropathy, retinopathy, nephropathy, or hearing impairment. Neurophysiological studies included auditory and visually evoked potentials (EPs). RESULTS: Patients in group 1 revealed increased P100 latencies of visually EPs (103.4 +/- 4.5 vs. 96.8 +/- 3.7 ms) and interpeak latencies I-V of auditory EPs (4.16 +/- 0.10 vs. 3.99 +/- 0.09 ms) and had abnormal latencies (values outside 2.5 SD) in 37%. However, short-term patients (group 2) had results within normal limits compared with control subjects. In group 1, longer disease duration and younger age at onset correlated with an increase of P100 latency (P < 0.001) and IPL I-V (P < 0.001). Patients with a history of severe hypoglycemic episodes had increased latencies compared with patients without hypoglycemia (P < 0.05). Furthermore, metabolic control during the last 2 years was related to P100 latencies (P < 0.05). CONCLUSIONS: EPs noninvasively detect subclinical central nervous system involvement in children and adolescents with IDDM. Most important risk factors are duration of disease and frequency of severe hypoglycemia.

Acoustic Stimulation↗
PubMed1996

[Function and structure of families with chronically ill children].

In modern medicine especially the sick child often points out the limits of the psychosocial potentialities. This project investigates the function, structure, coping mechanisms, power and weakness of families with chronically ill children. We investigated 28 children from the nephrological ward and 55 patients from the cardiological department and also their families with the FAM III and compared the obtained T-scores with the results of the control-group (76 families, t-test, analysis of variance). Families with patients after renal transplantation (NTX) pointed out significant worse T-scores than the group with patients on CAPD or with preterminal renal insufficiency and CG (p < 0.05). Within the cardiological groups the differences were not statistically significant, on the other hand the group with patients before heart-operation and the group with patients after palliative heart-operation had better T-scores than the CT (p < 0.05). These results demonstrate that families with children suffering from a chronic renal or heart disease mobilize substantial resources to cope with these problems. By contrast the results of the families with patients after NTX or successful heart surgery are significant worse than the control-group and the other investigated patients groups. Our results come to the conclusion that especially after successful NTX or heart-surgery a psychosocial care of these families is necessary.

Adaptation, Psychological↗
PubMed1995

Oxyradical damage and mitochondrial enzyme activities in the mdx mouse.

A number of studies have already been undertaken to investigate involvement of oxyradicals in muscle diseases by means of measurements of oxyradical protective enzymes. We investigated o-tyrosine, which is a biomarker for OH radical damage in vivo, in 10 mdx and 10 control mice. We also measured mitochondrial enzymes in muscle homogenates of 10 mdx and 10 control mice. Mdx mice had significantly elevated values for o-tyrosine, succinat-phenacinmetosulfat oxidoreductase. NADH O2 oxidoreductase and cytochrome C oxidoreductase. Our findings confirm the suggestion that elevated oxyradical production occurs in muscular dystrophies with lack of dystrophin. Furthermore, our results demonstrate that OH radical damage does not impair mitochondrial enzyme activities in the mdx mouse.

Animals↗