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Biomedical subjects

H Bode

Publications and source records attributed to H Bode.

At least 19 recordsLinked to original sources
PubMed1992

[Lissencephalia syndromes].

Lissencephaly is in most cases a genetic anomaly of the brain development with agyria and/or pachygyria. It causes severe psychomotor retardation and epilepsy, which is often resistant to therapy. Some patients with type-I lissencephaly show cranial and facial dysmorphism and a deletion of chromosome 17p13.3 (Miller-Dieker syndrome). The isolated lissencephaly sequence occurs without these features. Patients with type-II lissencephaly present additional malformations of the posterior fossa and of the eyes (Walker-Warburg syndrome) and in some cases muscular dystrophy (cerebro-oculomuscular syndrome). Lissencephaly can be suspected with a high probability by its typical EEG. It is proved by imaging techniques. Therapeutic success is limited, the life expectancy is strongly reduced.

Abnormalities, Multiple↗
PubMed1992

Conservation of the prohormone convertase gene family in metazoa: analysis of cDNAs encoding a PC3-like protein from hydra.

A subclass of proteolytic enzymes that correctly cleave precursor proteins at paired basic residues and are structurally related to the bacterial subtilisins has recently been identified. In yeast, a single membrane-bound proteolytic processing enzyme encoded by the kex2 gene has been found, whereas in higher vertebrates cDNAs encoding four distinct enzymes (PC2, PC3, furin, and PACE 4) have been identified. Like kex2, furin (also known as PACE) contains a hydrophobic transmembrane domain, but PC2, PC3, and PACE 4 lack this feature. All five enzymes exhibit striking similarities in their catalytic domains, and this suggests that they have arisen from a common ancestral subtilisin-like gene. We report here the identification of cDNAs encoding a protein that is similar in structure to PC3 from a simple metazoan, Hydra vulgaris (formerly Hydra attenuata). cDNAs encoding two isoforms of this PC3-like enzyme were obtained that differ only in their carboxyl-terminal sequences, probably due to alternative splicing of a common pre-mRNA. Neither form contains a transmembrane domain. Predicted amino acid sequence comparisons revealed that the hydra PC3-like enzyme is 55.4% and 56.7% identical in the catalytic domain to mouse PC3 and human furin, respectively. RNA blot analyses revealed that the PC3-like RNA is expressed predominantly in the hydra body column and not in the head region, although the hydra head contains a high density of nerve cells, which synthesize a variety of neuropeptides. For this reason, we suspect that another proprotein cleavage enzyme isoform may be expressed in head nerve cells. The isolation of a PC3-like cDNA from hydra is consistent with the presence of neuroendocrine cells and indicates that the PC/furin gene family has been well conserved in all metazoa. A simplified nomenclature for the group of mammalian processing proteases is proposed.

Amino Acid Sequence↗
PubMed1992

[Successful multiple resuscitation in flecainide poisoning].

After a family quarrel a 37-year-old woman swallowed, with suicidal intent, a large number of flecainide tablets (exact amount unknown) together with alcohol. On admission to hospital some hours later her pupils were fully dilated, fixed and of irregular outline; she was unconscious and in cardiorespiratory failure. Nine hours after admission several episodes of ventricular fibrillation and asystole occurred, two of them lasting for 2 and 3 hours, respectively, before successful resuscitation (after defibrillation). The highest plasma flecainide level, between 3 and 10 hours after swallowing the drug, was 6160 ng/ml, i.e. six times the maximal therapeutic level. Under the influence of flecainide the ECG of the previously healthy woman had shown idioventricular rhythm with marked QRS widening and Q-T prolongation. The tachyarrhythmias, at times torsades de pointes, were successfully treated with high doses of lidocaine (4 g daily) after repeated defibrillations. As a late complication the patient went into acute left ventricular failure with pulmonary edema and pneumonia. There were no recognizable permanent sequelae on discharge 37 days after admission.

Adult↗
PubMed1992

Abnormal cerebral hemodynamics during attacks of alternating hemiplegia.

Frequent episodes of bilateral weakness and apathy, followed later by hemiplegia of alternating sides were observed in a now 32-month-old girl. Transcranial Doppler ultrasonography showed reduced flow velocities in the middle cerebral artery of the affected side during a hemiplegic attack and increased flow velocities at different sites of the basilar artery during a bilateral episode. These abnormal cerebral hemodynamics appear to indicate that alternating hemiplegia and some forms of migraine have a similar pathophysiology.

Basilar Artery↗
PubMed1992

Intracranial blood flow velocities during seizures and generalized epileptic discharges.

In 51 children with different types of epilepsy, blood flow velocities in the middle cerebral artery were recorded continuously by transcranial Doppler sonography during a standard electroencephalogram of 30 min duration. In 16 children 33 epileptic seizures were recorded. During tonic seizures, the mean flow velocity increased to a maximum of 133%-191% (median 160%) of the baseline values. Tonic-clonic seizures were also accompanied by a velocity increase. During absence seizures the mean flow velocity decreased to a minimum of 46%-82% (median 71%) of the baseline values. Changes in cerebral metabolism and arterial blood pressure in the presence of disturbed autoregulation are thought to be factors causing these alterations. No alteration of the flow velocities occurred in cases of petit-mal status, electrical status epilepticus and in 35 children with generalized epileptic discharges of up to 5 s duration without clinical manifestations.

Adolescent↗
PubMed1992

[Intra-individual variation of cerebral blood flow velocity in sleeping and awake children].

A considerable intraindividual variability of blood flow velocities in the middle and posterior cerebral artery was found in 74 children by continuous transcranial Doppler recording during EEG registration. The coefficient of variation of the mean flow velocities in the posterior cerebral artery was higher than in the middle cerebral artery, and higher in restless children than in calm children. During hyperventilation the mean flow velocities decreased to about 50 per cent of the baseline values. They increased to 130-140 per cent of the baseline values after hyperventilation. Repeated variations of the velocities of more than 30 per cent of the baseline values were observed during non-REM sleep in the majority of the children. They may be caused by a lower damping of the cerebral autoregulatory response. The intraindividual variability of cerebral blood flow velocities in children has to be kept in mind in pathological conditions and during Doppler monitoring.

Arousal↗
PubMed1992

[Cerebral Doppler measurements in risk newborn infants do not have a prognostic value].

PROBLEM: The prognostic value of cerebral doppler for the neonatal and the developmental prognosis was studied. METHODS: A prospective longitudinal study on 175 newborns at risk was performed. The blood flow velocities were recorded transcranially in the middle cerebral, posterior cerebral and internal carotid artery on day 1, 3-5 and 8-10 of life. Neonatal mortality and cerebral sonography gave the criteria for neonatal prognosis. Developmental prognosis was determined at a corrected age of 9 months by neurological examination and Griffth's test. RESULTS: In 60 neonates abnormal flow velocities were obtained at least at one recording. Ultrasound revealed cerebral hemorrhage in 20, hypoxic-ischemic encephalopathy in 5 children. 14 infants died during the neonatal period, 5 in the following months. Premature babies with birth weights below 1501 g and abnormal flow velocities presented more cerebral hemorrhages and deaths than those with normal flow velocities. At the age of 9 months a slight handicap was observed in 10, a severe handicap in 6 of the surviving 156 infants. The majority of infants with abnormal neonatal doppler-recording had a normal neurodevelopmental status. CONSEQUENCE: Cerebral doppler seems to be of little value to determine the prognosis of newborns at risk.

Asphyxia Neonatorum↗
PubMed1991

[Aspects of cerebral circulation in children].

Investigation of cerebral circulation represents an essential diagnostic adjunct to pediatric neurology. Doppler-sonography is presented as one of the diverse techniques to examine cerebral hemodynamics. The human cerebral circulation is controlled by autoregulatory mechanisms. Factors such as hematocrit, pulse, orthostasis and physical activity modulate the cerebral blood supply. The demand for blood depends essentially on arterial pCO2 but also on behavioural situations such as mental activity, effect of sensory stimuli or sleep. Bioelectric activity and perfusion of the central nervous system are closely linked. The cerebral perfusion in infants is characterized by a rapid increase in flow over the first couple of years to values exceeding those of adults. Disturbances of the cerebral perfusion are found in a variety of pediatric diseases. The patterns of perinatal brain damage depend on the maturity of the newborn. They are mainly sequels of impaired cerebral perfusion. In prematures periventricular leukomalacia and intracerebral hemorrhage are frequent whereas in infants at term cerebral edema and infarcts are more common. Acute hemiplegia in childhood can be of thromboembolic or vascular origin, however of etiologies different from those in adulthood. Prevention is the best treatment for disturbances of cerebral perfusion in childhood. Continuous monitoring techniques and pharmacotherapy need further clinical investigation.

Blood Flow Velocity↗
PubMed1991

Cerebral blood flow velocities during orthostasis and physical exercise.

The peak flow velocities in the middle cerebral artery were continuously recorded by transcranial Doppler sonography in 29 children. Arterial blood pressure and heart rates were measured every minute. The values observed during orthostasis and physical exercise were compared to baseline values obtained in the supine position. During orthostasis the velocities were, on average, reduced to 87%-94%, the minimal values being 75%-78% of the baseline values. The heart rate increased whereas blood pressure showed only minor alterations. Upon standing up the systolic peak flow velocity remained unchanged while the mean- and enddiastolic peak flow velocities decreased to 66% and 39% respectively. On average, the velocities increased to 103%-108% during physical exercise. Systolic blood pressure increased to the same extent, the heart rate even more. Continuous recording of cerebral blood flow velocities may be more useful than intermittent measurements of blood pressure to differentiate children with and without symptoms of orthostasis.

Adolescent↗
PubMed1991

[Brain circulation in residual cerebral damage. A Doppler ultrasound study].

Transcranial Doppler recordings of flow velocities in 5 cerebral arteries were performed in children with cerebral palsy or with focal epileptic discharges. In 22 children with severe bilateral cerebral palsy as an average the flow velocities were 55% of the norm. In 8 of 10 children with spastic hemiplegia, the velocities were reduced at least in one artery of the affected side. 7 of 11 children with a mixed focus and 4 of 18 children with a pure epileptic focus in the EEG presented reduced velocities within the artery belonging to the focus. The results and other studies indicate a reduced cerebral blood flow in severe cerebral palsy with may be caused by vascular, metabolic, bioelectric or pharmacologic factors.

Adolescent↗
PubMed1990

[An unusual "tumor-like finding" between the head of the pancreas and the duodenal wall].

A 48-year-old woman complained of right-sided upper abdominal pain and recurrent vomiting, and had lost 10 kg in 4 months. Ultrasound and computed tomography showed a solid, space-occupying lesion in the head of the pancreas, not separable from the duodenum. Despite thorough investigation the nature of the lesion remained obscure. Operation revealed a divided pancreas with stenosis of the accessory duct at the papilla. Histological examination showed pseudosarcomatous myofibroblastic proliferation within the duodenal wall in the vicinity of a duodenal wall cyst which had been destroyed by inflammation. In cases of divided pancreas it is the accessory duct which drains the main bulk of the pancreas, while the main duct carries little or no secretion; the stenosis of the accessory duct in this patient had therefore led to low-grade pancreatitis involving the head of the pancreas.

Chronic Disease↗
PubMed1990

Origin of the left coronary artery from the right pulmonary artery and ventricular septal defect in a child of a mother with raised plasma phenylalanine concentrations throughout pregnancy.

A child with anomalous origin of the left coronary artery from the right pulmonary artery, ventricular septal defect, fetal growth retardation, and facial abnormalities was born to a woman in whom plasma phenylalanine concentrations had been raised throughout pregnancy. The cardiac abnormalities were diagnosed by angiography when the child was eight months old. The anomalous coronary artery was imaged in a subsequent echocardiogram. Development retardation was caused by maternal phenylketonuria, which may also have been responsible for the development of the ventricular septal defect and the coronary anomaly. If dietary treatment of the mother had been started before pregnancy damage to the child might have been prevented.

Abnormalities, Multiple↗
PubMed1990

[Translocation trisomy 4q in 2 siblings as a sequela of paternal balanced reciprocal translocation: t(1;4)(q44;q31)].

In a sister and a brother with striking similarity of facial dysplasias, severe disturbance of expressive speech, and mild mental retardation a partial trisomy of the long arm of chromosome 4 was identified as cause of these anomalies. The partial trisomy 4q was due to a balanced translocation between the chromosomes 1 and 4 in the father of both children.

Abnormalities, Multiple↗
PubMed1989

Transient stenoses and occlusions of main cerebral arteries in children--diagnosis and control of therapy by transcranial Doppler sonography.

Flow disturbances in main cerebral arteries may cause severe neurological symptoms. Using transcranial Doppler sonography (TCD) the blood flow velocities in the basal cerebral arteries (BCA) can be recorded at any age. Transient stenoses or occlusions of main cerebral arteries were detected in 11 children by this method and confirmed by other techniques. Vasospasm produced a marked increase in flow velocities in the affected arteries which was reduced by nimodipine, the calcium channel blocker. Vasospasm also occurred in severe bacterial meningitis. In acute hemiplegia due to cerebral arterial obstruction no flow velocities could be recorded at the corresponding site. If distal branches were obstructed reduced flow velocities were found proximally. Increased flow velocities or reversed flow in anastomoses indicated the collateralization. The transient nature of the occlusions was shown by repeated recordings. TCD is a reliable, noninvasive and rapidly available technique for diagnosing or excluding transient flow disturbances in the main cerebral arteries as the cause of neurological symptoms in children. It indicates the necessity and most advantageous stage for therapy.

Adolescent↗