On dystrophin abundance and C-terminal missense mutations in dystrophinopathies.
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Adolescent↗
Biomedical subjects
R Heyer
Publications and source records attributed to R Heyer.
Severe head injury in children: impact of risk factors on outcome.
BACKGROUND: Outcome after severe head injury has been shown in some studies to be more favorable in children than in adults. Mortality rates reported range between 20% and 40% for children. Only contradicting data are available regarding the impact of trauma modalities on long-term outcome, or the relative influence of head fractures, intracranial hemorrhages, and brain edema on survival or neurologic sequelae in children. METHODS: A retrospective study in a tertiary care facility of long-term outcome of children after severe head injury, and analysis of risk factors for poor outcome. All children up to 16 years of age with severe head injury (Glasgow Coma Scale [GCS] score < or = 8), which have been treated in the pediatric intensive care unit from 1977 until 1994 in a single institution. RESULTS: A total of 150 children with severe head injury (GCS score < or = 8) were treated, 92 of them (61.3%) had traffic-related injuries. The median age was 6.6 years (SD +/- 3.6). There were 96 boys (64%) and 54 girls (36%). Sixty-five children (43.3%) had skull fractures, 87 patients (58.0%) developed an intracranial hemorrhage, and 79 patients (52.7%) developed a diffuse brain swelling/edema visible in computed tomographic scans within 72 hours after trauma. Of 150 children treated, 33 died (22%). In most cases, death was related to the development of secondary brain edema. Fifty-nine children (39.3%) had severe neurologic impairments at the time of discharge. The most significant risk factors for adverse outcome, shown by multivariate analysis, were primary areflexia and secondary brain edema. The risk for development of brain edema and poor prognosis was well predicted by the GCS score. CONCLUSION: The overall death rate in this study of children with severe head injury was low (22%) compared with other studies. However, the incidence of severe neurologic impairment at discharge remained high. The major risks for death or neurologic impairment were primary areflexia and the development of secondary brain swelling/edema, indicated by a low GCS score.
Adolescent↗
Cerebellar neurocytoma in an infant: an important differential diagnosis from cerebellar neuroblastoma and medulloblastoma?
A benign small cell tumor of the cerebellum of an infant boy is reported. The tumor exhibited cytological features strongly resembling those of central neurocytoma but in a pattern as usually seen in cerebellar nodular neuroblastoma or in desmoplastic medulloblastoma. It is suggested to call this tumor cerebellar neurocytoma, distinguishable from medulloblastoma or cerebellar neuroblastoma as most important differential diagnoses.
Cerebellar Neoplasms↗
Rapid micro liquid-liquid extraction method for trace analysis of organic contaminants in drinking water.
The applicability and performance of a micro liquid-liquid extraction method for trace analysis of organic compounds in drinking water is reported. Tap water samples of 400 ml are saturated with sodium chloride and extracted once with 500 microliters of toluene. Extracts are analyzed directly without further treatment by gas chromatography using simultaneous electron-capture and nitrogen-phosphorus detection. Recoveries of 82 organic compounds, including organochlorine and organophosphorus insecticides, triazine and acetanilide pesticides, chlorinated anilines and phenols from tap water samples spiked at 50 to 500 ng/l were determined and relative standard deviations were calculated. For 68 compounds the recoveries were higher than 50%. The mean relative standard deviations were calculated. For 68 compounds the recoveries were higher than 50%. The mean relative standard deviations were calculated. For 68 compounds the recoveries were higher than 50%. The mean relative standard deviations at spiking levels of 50, 100 and 500 ng/l were 7.9, 6.6 and 5.2%, respectively. The extraction method proved to be rapid, simple and inexpensive. In most cases compounds were reproducibly detected well below the European Union maximum tolerance level for pesticide residues in drinking water of 100 ng/l.
Chromatography, Gas↗
[In spinal symptoms remember toxoplasmosis].
A 4 weeks old girl presented a macrocephalus, elevated intracranial pressure and paralysis of both legs. The CT scan showed a hydrocephalus internus with stenosis of the aqueduct and periventricular calcifications. The cranial and spinal MRT scan revealed numerous lesions of the cerebral parenchyma and the spinal cord, which were detected after injection of Gadolinium Dimethylentriaminaceticacid (Gd DTPA). The serological examination confirmed the diagnosis of congenital toxoplasmosis.
Animals↗
[Acute respiratory insufficiency as the initial clinical manifestation of spinal muscular atrophy].
An infant was hospitalized with near miss sudden infant death syndrome at the age of seven weeks, and the final diagnosis of Werdnig-Hoffmann disease was proven by muscular biopsy at the age of seven months. The near miss event was caused by diaphragmatic paralysis which was the initial manifestation of this fatal disease.
Biopsy↗
Determination of brain death in children with 123I-IMP and Tc-99m HMPAO.
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Adolescent↗
99mTc-HM-PAO and 123I-amphetamine cerebral scintigraphy: a new, non invasive method in determination of brain death in children.
Determination of brain death in infants and children is difficult and criteria used in adult brain death are regarded insufficient in pediatric cases. In comatose children, clinical signs of brain death and EEG monitoring may be of limited value, while intercerebral blood flow estimations can provide more direct information. Beside radionuclide bolus angiography of polar radiopharmaceuticals with sequential technique, two radioisotopes are introduced for static brain images. Injection of 123I-amphetamine or the 99mTc labelled lipophilic complex HM-PAO into the peripheral venous circulation enables more precise static imaging of parenchymatous brain perfusion and cellular function in contrast to conventional dynamic imaging because of retention in the intact brain parenchyma. Critical deficits or complete loss of cerebral perfusion can be readily documented. These studies are particularly helpful when clinical signs and EEG alone cannot establish the definite diagnosis of brain death. Their easy application and wide availability renders them especially useful in children.
Adolescent↗
Determination of brain death with 123I-IMP and 99mTc-HM-PAO.
Brain imaging with radiolabeled amines, 123I-IMP and 99mTc-HM-PAO, is a rapid, safe, and specific bedside test for confirming brain death in the absence of cerebral blood flow. Therapeutic phenobarbital or thiopental levels do not interfere with the cerebral penetration ability of the lipophilic radiopharmacons.
Amphetamines↗
Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo-muscular syndrome).
Two children with the features of the "Muscle, Eye and Brain (MEB) Disease" (SANTAVUORI 1977), i.e. congenital muscular dystrophy (CMD), cerebral malformations and ocular abnormalities are reported and correlations with other inherited autosomal recessive syndromes of CMD, Fukuyama type of CMD and the Walker-Warburg syndrome discussed. The association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.
Abnormalities, Multiple↗
[Radiological changes in the skeleton due to anticonvulsant therapy in childhood (author's transl)].
Anticonvulsant therapy can lead to severe rachitic changes in the skeleton which closely resemble renal osteopathy. In addition to apparent widening of the epiphyseal plate, there are changes in the cortex of the long bones. Within four to six weeks of the commencement of vitamin D therapy, recalcification of the poorly recognised. Since the changes are best seen in the hand, further examinations of the skeleton are only indicated if there are positive findings in the hand.
Adolescent↗
Neurological signs and operative indication by agenesis of the perisylvian region: a study of 13 operated cases.
The article reports on 13 cases of agenesis of the perisylvian region in patients aged 2 to 53 years. The agenesis occurred in the temporal operculum in 7 cases, in the frontal operculum in 5 cases and the whole fronto-parieto-temporal region in one case. The agenesis was always associated with space requiring arachnoidal cysts. Symphyses and obstruction of the flow of the basal CSF spaces were also seen. In 85% of the patients were males. The patients tend to decompensate after light cerebrocranial trauma, and in many cases surgery reveals a subdural haematoma which fills the aplastic region, due to detachment of the exposed cerebral veins effecting basal drainage. In the remaining cases, surgery was performed because of general signs of cerebral compression, exarcebation of an existing disease associated with attacks, or because of the space occupying character of the concomitant arachnoidal cysts. In patients wit agenesis of the perisylvian region without space occupying arachnoidal cysts, surgery is not performed for the time being, instead, regular neurological and CAT-Scan control is effected.
Adolescent↗
[Opercular aplasia (author's transl)].
The article reports on 11 cases of opercular aplasia in patients aged 5 to 44 years. Aplasia occurred to a greater extent in the frontal operculum than in the temporal operculum, and was always associated with space-requiring arachnoidal cysts. Symphyses and obstruction of the flow of the basal CSF spaces were also seen. In 91% of the cases, the aplasia was localized on the left side, 91% of the patients were males. The patients tend to decompensate after a cerebrocranial trauma, and in many cases surgery reveals a subdural haematoma which fills the aplastic region, due to detachment of the exposed cerebral veins effecting basal drainage. In the remaining cases, surgery was performed because of general signs of cerebral compression, exacerbation of an existing disease associated with attacks, or because of the space-occupying character of the concomitant arachnoidal cysts. In patients with opercular aplasia without space-occupying arachnoidal cysts, surgery is not performed for the time being; instead, regular neurological and CT control is effected.
Adolescent↗
[Clinical aspects and therapy of so-called normal pressure hydrocephalus in childhood].
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Cerebrospinal Fluid Shunts↗
[Psychosocial intellectual development of children with infantile cystinosis and cerebral atrophy (author's transl)].
The psychosocial and intellectual development of 4 boys with nephropathic cystinosis and brain atrophy documented by cranial computerized tomography was investigated by use of biographical data and psychological tests (HAWIK, Deutscher Rechtschreibtest). Inspite of the brain atrophy the patients showed low-normal intellectual capacities and mainly average school performance. There were no psychosocial abnormalities correlated to the primary metabolic disease. However, renal dwarfism led to mascotism requiring psychotherapy.
Atrophy↗
Determination of phenobarbital and phenytoin in serum by a mechanized enzyme immunoassay (EMIT) in comparison with a gas-liquid chromatographic method.
The antiepileptic drugs phenobarbital and phenytoin were determined in serum by enzyme immunoassay (Emit, Syva Corp.) and gas-liquid chromatography. The Emit assays were mechanized by the use of an Eppendorf analyzer 5010. The precision of the Emit system was sufficient (coefficient of variation within series 6-13% and from day to day 8-15% with various calibrators and control sera). Moreover the Emit method is rapid, specific and easy to perform. The procedure requires only 10 microliter of serum per determination. A disadvantage however is the high cost of the reagents. A comparison of the results obtained by Emit and gas-liquid chromatography in a series of about 50 patients showed a good correlation between both methods (correlation coefficient r = 0.968 for phenobarbital and 0.978 for phenytoin).
Child↗
[Myoclonic encephalopathy in childhood (author's transl)].
Two new cases of infantile myoclonic encephalopathy are reported and a survey of literature is given. The disease is characterized by generalised myoclonic jerks in all striated muscles, by cerebellar ataxia and by fast, jerking, mostly conjugated irregular eye movements (opsoclonus). The disease develops mostly during late infancy and early childhood. The pathogenesis is unknown, probably it is caused by immunological reactions to various agents. Treatment with ACTH or corticosteroids leads to rapid remission of the initial neurological symptoms, but it is suggested that therapy does not prevent frequent sequelae of psychomotor retardation and speech distubances. Remarkably, there is the high coincidence of infantile myoclonic encephalopathy and neuroblastoma. Therefore it is necessary to keep in mind the possibility of a causative neuroblastoma in all children with myoclonic encephalopathy and to control repeatly radiological findings and urin-excretion of catecholamines as well as their metabolic products.
Adrenal Cortex Hormones↗
[The importance of early recognition of impeded cranial migration of the spinal cord].
Impeded cranial migration of the spinal cord is described in five cases which initially were not recognized. The aetiology, symptomatology and differential diagnosis are presented. The clinical manifestations are signaled by skin lesions typical for dysraphic lesions, signs of urinary and rectal incontinence, deformity or weakness of the feet, impaired gait, motor reflex and sensory changes, and occasionally trophic changes. The restriction in cranial migration of the spinal cord can only be proved by myelography. The importance of early neurosurgical intervention to prevent irreversible deterioration of the motor, sensory or urinary system is particularly emphasized. Improvement after surgery can be achieved in at least 30% of the patients who already developed neurological deficits.
Child↗