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Biomedical subjects

F Ebinger

Publications and source records attributed to F Ebinger.

16 recordsLinked to original sources
PubMed2006

Intraoperative MRI for interventional neurosurgical procedures and tumor resection control in children.

INTRODUCTION: Despite the introduction of neuronavigational systems, radical tumor removal is still problematic in many neurosurgical procedures. Thus, direct intraoperative imaging for tumor resection control was implemented with an intraoperative magnetic resonance imaging (ioMRI) scanner installed in the operating room. Whereas most procedures with ioMRI were carried out in adults, we summarize 7 years of experience using ioMRI in children for interventional neurosurgical procedures or for tumor resection control. METHOD: An open magnetic resonance scanner (Magnetom Open 0.2 T) was installed in the neurosurgical operating room. For tumor resection control, ioMRI was performed in 35 procedures. After the ioMRI scans were analyzed with respect to quality, the identification of residual tumor was considered by the attending neuroradiologist and neurosurgeon. If residual tumor tissue was present, a new three-dimensional (3D) dataset was acquired to update the neuronavigation; subsequently, the tumor resection was extended. In all these procedures, the results of the ioMRI were checked by an early postoperative high-field magnetic resonance imaging (MRI) study. In addition, ioMRI was carried out in ten other children to monitor interventional neurosurgical procedures. RESULTS: In all children, ioMRI was adequate both for tumor resection control and monitoring of interventional procedures. Primary radical removal of tumor was reached in 40% as confirmed by ioMRI, but in 60% of the patients, the tumor resection procedure was extended after residual tumor was detected using the new 3D dataset for navigational update. By using ioMRI, radical tumor removal improved up to 83% as confirmed by early postoperative MRI. Procedure-related complications were not seen in our series. For all MR-guided biopsies, histology findings could be confirmed, and aspiration of intracranial cysts or abscesses could be monitored online. CONCLUSION: IoMRI using the open magnetom is suitable for detecting residual tumor tissue, can compensate for the phenomenon of brain shift using a new intraopertive 3D dataset for extended tumor resection, and is capable of monitoring interventional neurosurgical procedures. By using ioMRI for tumor resection control, the degree of tumor resection could be significantly improved.

Adolescent↗
PubMed2006

Cardiorespiratory regulation in migraine. Results in children and adolescents and review of the literature.

To investigate autonomic regulation in juvenile migraine we studied 70 children and adolescents with migraine during the headache-free period and 81 healthy controls by cardiorespiratory function tests. Heart rate variability was analysed with time and frequency domain indices during spontaneous breathing at rest and during metronomic breathing. Changes of heart rate and blood pressure were studied during tilt-table test, active standing, Valsalva manoeuvre and sustained handgrip. We found significant differences in metronomic breathing, tilt-table test and Valsalva manoeuvre. We interpret our findings and results reported in the literature as pointing to a restricted ability of the system to rest, which supports therapies intending to further this ability. In autonomic tests, hyperreactivity in juvenile migraineurs changes to hyporeactivity and passive coping in adults. This might be explained by disturbances of raphe nuclei and the periaqueductal grey. It corresponds to psychological findings in juvenile migraineurs reporting hypersensitivity and repressed aggression and claiming learned helplessness.

Adolescent↗
PubMed2006

Exteroceptive suppression of masseter muscle activity in juvenile migraineurs.

The second exteroceptive suppression period (ES2) of masseter or temporalis muscle activity may be reduced in adults with chronic tension-type headache. In adults with migraine, ES2 was found normal or tended to be protracted. To date, no studies on exteroceptive suppression in children and adolescents with headaches have been published. We investigated the exteroceptive suppression of masseter muscle activity in 14 migraineurs and 19 controls between 6 and 18 years of age. It was elicited by electrical stimulation at the labial commissure. No differences were found regarding the first suppression period, but ES2 was significantly longer in the migraine group than in controls. The results of the migraine group suggest overactivity of the interneurons of the reflex loop due to impaired inhibitory control from superior antinociceptive systems already at the beginning of this headache disorder.

Adolescent↗
PubMed2005

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.

Age of Onset↗
PubMed2004

Beta-sarcoglycan gene mutations in Turkey.

The term limb-girdle muscular dystrophy (LGMD) refers to a group of muscular dystrophies that, at the outset, affect primarily the muscles of the hip and shoulder girdle. Limb-girdle muscular dystrophy is genetically heterogeneous comprising autosomal dominant (types LGMD 1A-1E) as well as autosomal recessive forms (types LGMD 2A-2J known). A subgroup among the autosomal recessive forms comprises the sarcoglycanopathies (LGMD2C-2F), caused by mutations in the gamma (gamma-SG), alpha (alpha-SG), beta (beta-SG) and delta (delta-SG) sarcoglycan genes, respectively. The sarcoglycans form the sarcoglycan complex, part of the dystrophin-associated glycoproteins. Mutations in the beta-SG gene causes LGMD2E. Disease severity, in this form, varies from mild to severe phenotypes depending on the individual mutation. Homozygous missense mutations in critical locations may result in the total absence of alpha-, beta- and gamma-sarcoglycan from the muscle membrane and a phenotype as severe as null mutations. In the present study, through screening 80 unrelated LGMD2 families, we identified 13 families with LGMD2E. Mutations in the beta-SG gene were identified in 12 patients from nine families. One of these patients carried a previously reported truncating mutation (Q11X), while the other 11 carried novel missense/rameshift mutations (M1L, V89M, I92T, I92S, 739insA), some of which were seen in more than one patient and may, therefore, be more common in the Turkish population.

Adolescent↗
PubMed2003

Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopy.

Transport of phenylalanine (Phe) and the other large neutral amino acids across the blood-brain barrier plays a crucial role in the pathogenesis of phenylketonuria (PKU). Thus, investigation of Phe transport kinetics by means of proton magnetic resonance spectroscopy (1H MRS) became an important research area in the mid 1990s. As 1H MRS measurements of brain phenylalanine are restricted to tissue concentrations above 100-150 micromol/kg wet weight, this approach was possible only in PKU patients, and comparison with healthy controls was not achieved. Using standardized single-dose oral Phe loading in three healthy subjects, it was shown that Phe values increase steeply, peak at about 1 h post load, and decrease thereafter. In a single case study, repetitive Phe loading was then performed to achieve a plateau of high blood Phe concentrations for several hours. It was demonstrated that detection and monitoring of brain Phe concentrations is feasible by means of 1H MRS. This approach constitutes a prerequisite for describing carrier kinetics in health.

Adult↗
PubMed2003

Emotional and behavioural problems in children and adolescents with primary headache.

Psychiatric co-morbidity is an important risk factor for chronification of primary headache into adulthood. The aim of this study was to investigate the extent and clinical relevance of emotional and behavioural problems in children and adolescents with primary headache. Children and adolescents (n = 128) with primary headache (International Headache Society, codes 1.1, 1.2, 2.1) and 83 matched controls aged 6-18 years were examined by standardized dimensional psychometric tests (Child Behaviour Checklist, Depression Inventory for Children and Adolescents, Anxiety Questionnaire for Pupils). Children and adolescents with primary headache suffer more often from internalizing problems (depression, anxiety, somatization) than healthy controls. The detected emotional and behavioural problems are clinically relevant and require particular therapy in every third child suffering from headache. Two out of three children and adolescents with primary headache do not show clinically relevant psychopathology and may benefit from minimal therapeutic intervention. One of three examined headache patients needs additional psychiatric therapy.

Adolescent↗
PubMed2003

Cervical spinal cord atrophy in the atraumatically born neonate: one form of prenatal or perinatal ischaemic insult?

After atraumatic birth, three neonates presented with muscle hypotonia and weakness. Flaccid paresis of the upper extremities, spasticity of the lower extremities, dissociate sensory loss and autonomic dysfunction developed later. This ruled out the initial, tentative diagnoses of cerebral palsy, spinal muscular atrophy or hereditary neuropathy. Diagnostic imaging revealed marked thinning of the cervical spinal cord in all patients. The possible aetiology of these lesions is considered. In all cases, an antenatal or perinatal infarction is thought to be the most probable cause. Different clinical pictures following intrauterine spinal cord ischemia are discussed. Spinal cord lesion must be considered even after atraumatic birth.

Birth Injuries↗
PubMed2003

New pattern of brain MRI lesions in isolated complex I deficiency.

We describe a boy presenting at the end of the first year of life with severely delayed motor development and only mild mental retardation. Neurological examination revealed axial hypotonia, mild ataxia and pyramidal signs. Elevated lactate and protein in cerebrospinal fluid were the most prominent laboratory abnormalities. Brain MRI showed severe supratentorial white matter changes. Cerebellar white matter appeared normal whereas the signal of the atrophic cerebellar cortex was markedly increased. In vivo 1H-magnetic resonance spectroscopy of the parietooccipital white matter region showed a distinct resonance of lactate. By means of biochemical analysis of respiratory chain enzymes in fibroblasts, the diagnosis of an isolated complex I deficiency could be established in our patient.

Brain↗
PubMed2001

Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.

Guanidinoacetate methyltransferase (GAMT) deficiency (McKusick 601240), an inborn error of creatine biosynthesis, is characterized by creatine depletion and accumulation of guanidinoacetate (GAA) in the brain. Treatment by oral creatine supplementation had no effect on the intractable seizures. Based on the possible role of GAA as an epileptogenic agent, we evaluated a dietary treatment with arginine restriction and ornithine supplementation in order to achieve reduction of GAA. In an 8-year-old Kurdish girl with GAMT deficiency arginine intake was restricted to 15 mg/kg/day (0.4 g natural protein/kg/day) and ornithine was supplemented with 100 mg/kg/day over a period of 14 months. The diet was enriched with 0.4 g/kg/day of arginine-free essential amino acid mixture and creatine treatment remained unchanged (1.1 g/kg/day). Guanidino compounds in blood, urine, and CSF were measured by means of cation-exchange chromatography. The combination of arginine restriction and ornithine supplementation led to a substantial and permanent decrease of arginine without disturbance of nitrogen detoxification. Formation of GAA was effectively reduced after 4 weeks of treatment and sustained thereafter. Biochemical effects were accompanied by a marked clinical improvement. Distinctly reduced epileptogenic activities in electroencephalography accompanied by almost complete disappearance of seizures demonstrates the positive effect of GAA reduction. This indicates for the first time that GAA may exert an important epileptogenic potential in man. Arginine restriction in combination with ornithine supplementation represents a new and rationale therapeutic approach in GAMT deficiency.

Amino Acid Metabolism, Inborn Errors↗
PubMed2000

2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria.

2-ketoglutarate dehydrogenase (KGD) deficiency is a rare disorder of the tricarboxylic acid cycle. To date, 7 patients have been reported with clinical symptoms suggesting a neurodegenerative disease. We report a new patient in whom urinary excretion of 2-ketoglutaric acid (KGA) was intermittently found to be within normal ranges. At birth, the male patient suffered from mild perinatal asphyxia due to meconium aspiration. During the first months of life, he developed an opisthotonus, hyperexcitability and truncal hypertonia. At the present age of 14 months, these neurological symptoms became less pronounced. A cranial MRI was normal. Urinary 2-KGA excretion was found to be intermittently increased in 3 of 6 analyses between 2 weeks and 14 months of age (5-1700 mmol/mol creatinine, controls: < 340 mmol/mol creatinine). 2-KGA was not increased in plasma and CSF. Diagnosis was confirmed by measurement of decreased 2-KGD activity in cultured skin fibroblasts. This report demonstrates that the diagnosis of 2-KGD deficiency can easily be missed. In case of doubt, 2-KGD activity should be measured in fibroblasts. The clinical and long-term outcome of patients with 2-KGD deficiency is unknown. Further reports and long-term evaluation are required.

Cells, Cultured↗
PubMed1999

Ischemic stroke and migraine in childhood: coincidence or causal relation?

Although migraine is an accepted cause of cerebral infarction in adults, this association is less well recognized in children. We present two children with migraine and cerebral infarction, which we regard as migrainous stroke, though neither patient fulfills all criteria of the International Headache Society for the diagnosis of migrainous infarction. Review of the literature concerning examples of migraine-associated stroke in childhood suggests that these criteria are too restrictive to comprise the majority of migrainous strokes, especially in this age group.

Age Factors↗