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Biomedical subjects

K Skullerud

Publications and source records attributed to K Skullerud.

At least 19 recordsLinked to original sources
PubMed1992

VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism?

We report on a female infant with lethal congenital malformations including extreme hydrocephalus due to aqueductal stenosis, vertebral segmentation anomalies, fused costae, anal atresia, renal dysplasia, and bicornuate uterus with a double blind vagina. The VACTERL and the MURCS associations are possible diagnoses. Her father had a neurenteric cyst in infancy. He has identical vertebral and costal malformations as his daughter but is otherwise healthy. The possibility of dominant inheritance with gonosomal mosaicism in the father is discussed.

Abnormalities, Multiple↗
PubMed1992

Affection of the hippocampal granule cells in pontosubicular neuron necrosis.

The dentate fascia of the hippocampus was studied in 25 infants with pontosubicular necrosis and in 21 control cases without hypoxic cerebral lesions. Of the control cases 19 were completely normal and 2 showed one single necrotic cell in the granule cell layer. In contrast 15 of the cases with pontosubicular necrosis showed varying degrees of neuronal karyorrhexis in the dentate fascia. The severity of these changes largely parallelled those in the subiculum but there were exceptions to this rule. It is concluded that the dentate fascia is frequently involved in pontosubicular necrosis.

Blood Glucose↗
PubMed1991

[Mitochondrial diseases--more common than we realize?].

The last two decades have revealed a novel group of inborn errors with defects on the pathways of aerobic energy substrates into the mitochondria or the capacity to generate reducing potential from these substrates, as well as those that block the oxidative phosphorylation pathway itself. The mitochondrial diseases are clinically heterogenous disorders that can affect multiple organ systems, mainly the skeletal muscle and nervous system (mitochondrial encephalomyopathies). There are a few distinctive syndromes such as Leigh's syndrome, Alper's syndrome, Kearns-Sayre's syndrome, myoclonus epilepsy with "ragged-red fibres" (MERRF), and MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, strokelike episodes). The last year our department has evaluated ten children with mitochondrial disorders. Among these are two siblings with Leigh's syndrome and cytochrome c-oxidase defect. The first child, a girl, developed the first symptoms at the age of four months and died 13 months old. The younger brother showed the same clinical picture as his sister. However, the clinical neurological picture was stabilized when he was 18 months old, and he is still alive at six years of age and slightly psychomotorically retarded.

Brain Diseases↗
PubMed1991

Cerebral lesions and causes of death in male alcoholics. A forensic autopsy study.

Autopsies on 195 male alcoholics aged 30-64 years who died outside hospitals and nursing homes in Oslo from 1984 to 1988, were carried out at the Institute of Forensic Medicine, Rikshospitalet. In 127 cases brain tissue was examined neuropathologically, 86 (67.7%) showed abnormalities and 28 contained lesions of more than one type. Lesions associated with alcoholism were found in 61 cases (48%), 18 (14.2%) showed Wernicke's encephalopathy, 47 (37%) cerebellar atrophy, 2 central pontine myelinolysis and 1 hepatic encephalopathy. Subdural haematoma and/or cortical contusions were found in 30 cases (23.6%) and cerebrovascular lesions in 19 (15%). Of the 195 cases, 22 had a history of recurrent convulsive attacks of which 19 were examined neuropathologically and 13 had focal damage that could have caused epileptic fits. Although cerebral damage was more frequent among vagrants and other persons dependent on social support, 50% of the alcoholics living in their own homes were also affected. Alcohol-related disease was considered the cause of death in 15 of 127 cases examined neuropathologically and 9 of these died from acute Wernicke's encephalopathy all of whom were sober at death. Although the post mortem analyses included neuropathological examination of the brain, the cause of death remained unknown in 27 (21%) of the 127 cases.

Adult↗
PubMed1990

[Brain tumors in children].

Brain tumour was diagnosed by computer tomography or magnetic resonance imaging in 100 children aged 0 to 19 years. They consecutively underwent primary surgical treatment during the years 1984 to 1988. Non-neoplastic lesions and operations for residual tumours are not included. 54 tumours were localized supratentorially. 72% of these were benign or low grade malignancies. 46 tumours had an infratentorial localisation. 59% of these were high grade malignancies. Children tolerate major-neurosurgical procedures better than adults and restitution is usually favourable. 42 children with high grade malignancies underwent postoperative radiotherapy. Per- and postoperative mortality in this series was 1%. 80 children are alive. 62 of these are in excellent condition after a median observation time of 40 months.

Adolescent↗
PubMed1990

[Alcohol and statistics of causes of death in middle-aged men in Oslo. A forensic study].

The study comprised male citizens of Oslo, aged 30-64 years, who died outside hospital and were autopsied at the Institute of Forensic Medicine, Rikshopsitalet, from 1984 to 1988. Of the 636 cases, 195 (30.7%) were classified as alcoholics and 441 as non-alcoholics. The cause of death remained unknown after autopsy and toxicological analyses in 17.4% of the alcoholics and in 5.4% of the non-alcoholics. Suicide by other methods than medicamental poisoning was 6-7 times more frequent among non-alcoholics than among alcoholics, while death from poisoning was definitely more common among alcoholics. The frequency of lethal accidents other than intoxications was similar in both cases. Coronary heart disease was the cause of 72.7% of the natural deaths among the non-alcoholics. Among the alcoholics, however, infections (24.3%) and alcohol-related disorders (15.9%) caused nearly as many deaths as coronary heart disease (25.3%). There was a high rate of blood-alcohol concentration (greater than or equal to 0.5%) in men who died from accidents, suicides and homicides, irrespective of whether they were alcoholics or not. The findings give evidence that alcohol has a strong impact on the mortality statistics for Norwegian middle-aged men.

Accidents↗
PubMed1990

Spinal muscular atrophy type I combined with atrial septal defect in three sibs.

All three children of an unrelated Norwegian couple were born with spinal muscular atrophy (SMA I) as confirmed by autopsy in two of them. Two of the children died at birth, whereas one lived for 7 weeks on support systems that included artificial ventilation. All three children had large atrial septal defects (ASD). One had valvular aortic stenosis. Another had arrhinencephaly and transient pleural effusion which was evacuated during pregnancy. The findings may reflect concurrence of unrelated disorders caused by genetic or environmental factors, segregation of linked genes, pleiotropism or the existence of a previously unknown disease.

Abnormalities, Multiple↗
PubMed1989

[Pathologic brain damage in male alcoholics dying outside of hospitals].

From 1984 to 1988, 195 male alcoholics aged 30-64 years who died outside hospitals and nursing homes in Oslo were autopsied at the Institute of Forensic Medicine, the National Hospital, Oslo. Of the 127 brains neuropathologically examined, 86 (67.7%) showed abnormalities, and 28 contained lesions of more than one type. One or two lesions associated with alcoholism were found in 61 cases (48%). Thus, 18 (14.2%) showed Wernicke's encephalopathy, 47 (37%) cerebellar atrophy, two central pontine myelinolysis, and one hepatic encephalopathy. Subdural haematoma and/or cortical contusions were found in 30 (23.6%), and cerebrovascular lesions in 19 (15%). Of the 195 cases, 22 had a history of repeated epileptic seizures. Nineteen of them were examined neuropathologically, and 13 had focal damage that might have been responsible for their fits. The results indicate that the frequency of Wernicke's encephalopathy and cerebellar atrophy in male alcoholics who die outside hospital is similar to that previously observed in cases who died in hospital. Although cerebral damage was even more frequent among vagrants and others dependent on social support, half the men living in their own homes were also affected.

Adult↗
PubMed1988

Clinicopathological study of germinal matrix hemorrhage, pontosubicular necrosis, and periventricular leukomalacia in stillborn.

The occurrence of germinal matrix hemorrhage (GMH), pontosubicular necrosis (PSN), and periventricular leukomalacia (PVL) was evaluated in 58 stillborn, among whom 23 (40%) showed one or more lesions. A comparative study of neuropathological findings and obstetrical histories in stillborn beyond 26 weeks of gestation showed a greater frequency of damage when the pregnancies had been complicated. The pathogenesis of PSN is disputed. As PSN was found in stillborn (13 cases), hyperoxia is not an essential pathogenetic factor. PSN may represent a form of anoxic encephalopathy. However, PSN was found as an isolated lesion in an infant of a diabetic mother and in most cases of intrauterine growth retardation; hypoglycemia may therefore be involved in the pathogenesis. Ultrasound examinations of living neonates have indicated the prenatal occurrence of GMH in some cases, and our study opens the possibility that there is intrauterine involvement of PVL and PSN as well. Consequently, cerebral lesions diagnosed in newborn may have occurred in utero.

Encephalomalacia↗
PubMed1986

Frequency and prognostic significance of germinal matrix hemorrhage, periventricular leukomalacia, and pontosubicular necrosis in preterm neonates.

The occurrence of germinal matrix hemorrhage (GMH), periventricular leukomalacia (PVL), and pontosubicular necrosis (PSN) was evaluated in a material of 96 preterm infants. All cases were born at less than 38 weeks of gestation, and died within 30 days after birth. The frequency of GMH (50%) and PVL (24%) was within the range of previous observations, but the 59% occurrence of PSN argues against the assertion that intraventricular hemorrhage is the most common neuropathological finding in preterm neonates. However, different combinations of these injuries were found in more than half the cases affected. Of the 48 infants with GMH, 36 (75%) showed either PSN (19 cases), PVL (2 cases), or both lesions (15 cases), and the frequency of additional damage was related to the severity of hemorrhage. Thus, neonatal mortality may be more related to additional hypoxic/ischemic lesions than to the severity of hemorrhage per se. Clinical follow-up studies on subpopulations of preterm infants with and without GMH have shown no difference in frequency of mild and moderate psychomotoric deficiencies. The 35% occurrence of PSN as a solitary lesion in the 48 cases without GMH was similar to the frequency of PSN as a single additional lesion in 48 cases with GMH (40%). This finding makes PSN and not GMH the most likely cause of at least less severe handicaps.

Brain↗
PubMed1985

Variations in the size of the human brain. Influence of age, sex, body length, body mass index, alcoholism, Alzheimer changes, and cerebral atherosclerosis.

The various factors which determine brain weight and volume of the lateral ventricles were studied in an autopsy material of 467 cases. The material consisted of 64 men and 17 women between 45-54 years and 196 men and 190 women between 70-79 years. The weights of the cerebral hemispheres and of the cerebellum and brainstem were determined separately. The volume of the lateral ventricles was determined by weighing the hemispheres with and without water in the lateral ventricles. The recorded variables were age, sex, body length, body weight, cerebral atherosclerosis, Alzheimer changes and alcoholism. Cerebral atherosclerosis and Alzheimer changes were quantitated by morphometric methods. The results were analysed by conventional and multivariate statistical methods. The following observations were made: In normal brains there was a significant correlation between the weight of the supra- and infratentorial parts. Similarly, there was a significant correlation between the size of the lateral ventricles and the weight of the cerebral hemispheres. Women had smaller brains than men even when the difference in body length was taken into account. The difference was approximately 110-115 g for the whole brain after correction for other variables. Women had also smaller lateral ventricles than men, but this difference was in proportion to the smaller size of their hemispheres. There was a physiologic decline in brain weight and a widening of the lateral ventricles with increasing age. This shrinkage probably started after the age of 55. There was a clear correlation between body length and brain weight. The estimated increase in brain weight was approximately 3 g per cm body length. There was a decreasing brain weight and an increasing ventricular size with a decreasing body mass index. This shows that emaciation leads to a decrease in brain size. Severe Alzheimer changes caused a statistically significant enlargement of the lateral ventricles both in men and women. There was a general trend for brain weight reduction in cases with severe Alzheimer changes but the decrease was statistically significant only in old women, and it could not be entirely excluded that the weight reduction in part was due to a concurrent emaciation rather than to the Alzheimer changes per se. In the majority of the cases, the Alzheimer changes were mild and had probably progressed slowly with age. A few cases had very severe changes.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1978

Encephalomyelopathy following intrathecal methotrexate treatment in a child with acute leukemia.

A previously undescribed type of encephalomyelopathy after prophylactic intrathecal methotrexate (MTX) treatment for acute leukemia is reported. The patient was treated systemically with vincristine, MTX, stereoids and mercaptopurine. Radiation therapy was not given. The neurologic symptoms started 24 hours after the completion of the fifth intrathecal MTX instillation and death ensued 18 days later. The lesions consisted of superficial and sharply circumscribed areas of incomplete necrosis with astrocytosis on the base of the brain and along the insula regions, around the foramina of Luschka, and over the superior and inferior colliculi. Similar superficial lesions were found over the surface of the cerebellum and along most of the surface of the spinal cord. Most of the affected areas in the brain were located under the large subarachnoid cisterns. In the cord the lesions were most pronounced along the entrance zones of the roots. There was also a severe loss of anterior horn cells. There were no signs of meningeal leukemia, no pathological changes were caused by the intrathecal MTX treatment.

Acute Disease↗