Search PubMed⌕ Search

Biomedical subjects

J Willemse

Publications and source records attributed to J Willemse.

At least 55 records · Page 3Linked to original sources
PubMed1985

CT-scanning of skeletal muscle in arthrogryposis multiplex congenita.

CT-scanning of skeletal muscles was performed on 14 patients with arthrogryposis multiplex congenita (AMC), according to an eight-slice protocol. Adipose tissue replacement and atrophy of muscles was found in six patients with neurogenic or myopathic origin of AMC, associated with severe muscle weakness. In the remaining patients with other forms of AMC, in which muscle weakness was less marked or absent, muscular CT-scanning was normal. It is stated that muscular CT-scanning is not a routine investigation in a screening procedure of all cases of AMC. However, CT-scanning appears to be useful in cases of severe AMC with associated muscle weakness in detecting the neurogenic and myopathic forms. It also facilitates the selection of a suitable site for EMG and biopsy and may provide important information for orthopaedic management.

Adolescent↗
PubMed1985

Cerebrospinal fluid dynamics and cerebrospinal fluid infusion in children. Part I: A revised method and a review.

In the study of cerebrospinal fluid dynamics in children with macrocephaly, the lumbar CSF infusion technique has always been used. Previous studies showed, that the regulation of cerebrospinal fluid dynamics are mainly determined by Pressure-Volume Index (PVI) and outflow resistance (Ro). Recent studies have shown, that the relationship between pressure and volume is mono exponential with a constant. This result suggests a third parameter c. PVI, Ro and c were determined with a combination of bolusmethod and a constant flow infusion.

Adolescent↗
PubMed1985

Cerebrospinal fluid dynamics and cerebrospinal fluid infusion in children. Part II: Clinical application of lumbar cerebrospinal fluid infusion in children with macrocephaly and normal growth rate of the head circumference.

In fourteen children with macrocephaly and a normal growth rate of the head circumference, the CSF dynamics were studied by means of the lumbar CSF infusion test with constant flow. We discuss the significance of the outflow resistance together with the advantage of the Pressure Volume Index, which constitute the major parameters of the test. On the basis of computed tomography, we were able to show a differentiation in macrocephaly between megalencephaly, so-called external ventricular obstructive hydrocephalus and communicating hydrocephalus. We were not able to establish a disturbance of the CSF dynamics in megalencephaly and external ventricular obstructive hydrocephalus. In communicating hydrocephalus, CSF absorption was normal, whilst the Pressure Volume Index was elevated. As far as we have been able to ascertain, we are the first in the field to point to a positive correlation between ventricular size and Pressure Volume Index in children with moderately enlarged CSF-spaces.

Adolescent↗
PubMed1984

CT-scanning in children with cerebral visual disturbance and its possible relation to hypoxia and ischaemia.

The examination of computertomography (CT) scans of 20 patients suffering from 'cerebral visual disturbance' (CVD) as part of infantile encephalopathy, revealed conspicuous abnormalities, which could be divided into two main groups: (1) lesions of the optic radiations; and (2) lesions of the calcarine cortex. The pathophysiological mechanisms underlying these abnormalities suggest an important role of hypoxia and/or ischaemia in the etiology of CVD.

Atrophy↗
PubMed1984

The heterogeneity of distal arthrogryposis.

A study of distal arthrogryposis is described including neurology, electromyography, cerebral and muscular CT-scanning, and muscle and nerve biopsies. In four cases presenting with congenital distal contractures, various neuromuscular disorders were diagnosed. They were respectively, congenital myopathy with core-like structures, congenital hypertrophic neuropathy, axonal neuropathy and anterior horn cell disease. The role of cerebral disorders in the pathogenesis of distal contractures is also considered. The significance of abnormal dermatoglyphics in the determination of the prenatal time of onset of congenital myopathies and arthrogryposis is discussed. Our findings provide evidence for the hypothesis that distal arthrogryposis may not be a distinct clinical entity with an autosomal dominant inheritance pattern, but a symptom, indicating various cerebral, neuromuscular and connective tissue disorders, present in numerous congenital syndromes with different modes of inheritance. In addition the value of electromyography, nerve conduction velocity studies, muscle and cerebral CT-scanning, and histology of muscle and nerve biopsies in the differential diagnosis of (distal) arthrogryposis is stressed.

Adolescent↗
PubMed1984

Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologic and neuropathological studies--a separate neurodevelopmental entity.

Two siblings with cerebral calcifications are described, clinically characterized by the early onset of general regression and epileptic seizures, followed by cerebral blindness and spastic tetraplegia. No remarkable biochemical abnormalities were found. Death ensued before the age of seven years. Radiology of the skull in the second case showed widespread calcifications, situated periventricularly, in the basal nuclei and in the cerebellum. In both cases postmortem examination revealed widespread calcifications, corpus callosum hypoplasia and hydrocephalus "a vacuo". Moreover retrocerebellar leptomeningeal "cysts" and hypoplasia of the cerebellum were found. A diffuse lack of axons appeared to be the main cause of the poor staining of the white matter. The diagnostic criteria are neurological regression, progressive calcification, hydrocephalus and hypoplasia of the corpus callosum and cerebellum. Five similar cases were found in the literature. Our cases and those from the literature probably belong to a separate entity, originally published by Laubenthal et al (1940).

Brain Diseases↗
PubMed1984

Treatment of non-fluctuating progressive dystonia: a neuropharmacological approach.

HVA and 5-HIAA in CSF were determined in five patients with non-fluctuating progressive dystonia before and after treatment with L-Dopa. The response to L-Dopa was unequivocally favourable in one patient. The HVA-level in her CSF was significantly reduced before treatment, whereas in the other four non-responding patients the pre-treatment HVA was normal. It is postulated, that the biochemical delineation of clinical responsiveness to a neurotransmitter may provide useful clues towards the classification of extrapyramidal disease in childhood.

Adolescent↗
PubMed1983

Congenital nemaline myopathy. II. Quantitative changes in alpha-actinin and myosin in skeletal muscle.

Skeletal muscle obtained from 2 patients with congenital nemaline myopathy (CNM) and from a healthy control was analyzed by 1- and 2-dimensional gel electrophoresis. In total extracts, an increase of alpha-actinin by a factor of 2:3 was found for CNM muscle as compared with the control. One- and two-dimensional gels revealed the presence of LCF3, the smallest light chain associated with type 2 (fast) myosin in total extracts of normal control of mixed fiber type. Both CNM samples showed the absence of this polypeptide. This result is consistent with the finding that muscle of the 2 patients exhibited nearly exclusively the ATPase activity indicative of type 1 (slow) myosin.

Actinin↗
PubMed1983

A case of asymmetrical arthrogryposis--a clinical study and a preliminary report on the value of CT-scanning.

Following the introduction of the conception that arthrogryposis is a symptom and not a clinical entity, a case of the very rare asymmetric form of neurogenic arthrogryposis is presented. The asymmetry of congenital contractures and weakness is associated with hemihypotrophy. The value of muscular CT-scanning prior to muscle biopsy is demonstrated. Muscular CT-scanning shows the extension of adipose tissue, which has replaced damaged muscles and thereby indicates the exact site for muscle biopsy. Since orthopaedic treatment in arthrogryposis can be unrewarding due to severe muscular degeneration, preoperative scanning may provide additional important information on muscular function and thus be of benefit for surgery. The advantage of muscular CT-scanning in other forms of arthrogryposis requires further determination. The differential diagnosis with Werdnig-Hoffmann disease is discussed.

Arthrogryposis↗
PubMed1983

Arthrogryposis multiplex congenita. Review with comment.

The definition and the clinical picture of arthrogryposis multiplex congenita (AMC) are discussed and the associated anomalies, deformities and syndromes are listed. It is stressed that isolated congenital contractures in (progressive) neuromuscular disorders may be manifestations of AMC, dependent on the moment of their onset. On the issue of the etiology it is made clear that a great number of pathological processes causing immobilisation of limbs of a fetus during or shortly after the embryonic formation of joints may result in AMC. Causes of decreased fetal movement are disorders of the developing motor system on all levels and inadequacy of the environment of the fetus. Decreased fetal movements are characteristic during pregnancy. Perinatal complications of AMC are common due to malpresentation provoked by the rigid fixated joints. The incidence, heredity, therapy and prognosis are briefly reviewed. Special attention is drawn to CNS aspects: cerebral disorders causing AMC and cerebral complications resulting from the condition. Finally it is stated that the definition and classification of AMC may need further revision in the future. Moreover, it is advocated that the cerebral aspects of AMC require further study.

Arthrogryposis↗
PubMed1982

Menkes' kinky hair disease. II. A clinicopathological report of three cases.

The neuropathologic abnormalities in three new cases of Menkes' kinky hair disease are described. Principally the three cases were the same. Hypoplasia of the cerebellum, with a basal arachnoïdal cyst, was present in all three cases. The cysts were not described before in Menkes' disease. There was nerve cell loss and gliosis in the cerebral cortex, cerebellum and thalamus. The reduction of myelinated axons was widespread and the disease does not belong to the leukodystrophies. Cortical lamination disturbances were present indicating that the disease develops as early as the sixth fetal month. Abnormal arborization of Purkinje cells with swelling of dendrites was present and thought not to be identical with the Purkinje cell abnormalities seen in amaurotic idiocy. The difference in severity of the copper deficiency in 2 patients is compared with the situation in "brindled" and "blotchy" mutant mice.

Brain↗
PubMed1982

Menkes' kinky hair disease. I. Comparison of classical and unusual clinical and biochemical features in two patients.

Two patients with Menkes' kinky hair disease were examined. Both showed the characteristic clinical features of this disease in combination with a low plasma-copper level. However, for one of them, studies with 64Cu provided clues that the copper was handled in a way unusual for a Menkes patient, viz., incorporation of 64Cu into ceruloplasmin during an oral 64Cu-loading test and abnormal behavior of skin fibroblasts in in vitro experiments. A comparison with brindled mice and some clinical aspects, viz., the age at death, the quality of the hair and the macrocephaly, of both patients are discussed.

Brain Diseases, Metabolic↗
PubMed1981

Trace element studies in three patients and a fetus with Menkes' disease. Effect of copper therapy.

This paper reports the results of a multielement analysis of postmortem samples of Menkes patients, of which one was untreated and two had been treated for various lengths of time with intramuscular injections of copper-EDTA. The findings have been compared with data from a Menkes fetus and from controls. The results confirm that copper accumulates in various tissues and demonstrate a further increase in copper levels as a result of the treatment with copper-EDTA. Although no clinical improvement was observed, the levels of some copper-containing enzymes normalized during the copper-therapy. Furthermore, in agreement with the identification of the copper-binding protein in the kidney as metallothionein, it was found that not only copper, but also zinc, cadmium, and mercury are trapped in this tissue. A low copper concentration in the brain was also found in a Menkes fetus, indicating that brain damage might already have occurred before birth. Speculation Until recently, Menkes' disease was considered to be due to copper deficiency. However, the symptoms are more typical of a storage disease in which copper is irreversibly trapped in some tissues, in particular in the kidneys, by metallothionein. This abnormal storage pattern gives rise to copper deficiency elsewhere in the organism, particularly in the brain where it may cause irreversible damage in the foetus. Parenteral administration of copper does not lead to clinical improvement. The only "therapy" that seems feasible at present is tracing the carriers of the disease and advising abortion when prenatal diagnosis indicates a male fetus carrying the disease.

Arsenic↗
PubMed1979

Metachromatic leukodystrophy and age: a comparative study of clinical, enzymological and ultrastructural findings.

The clinical findings of three cases of metachromatic leukodystrophy, one of the late infantile, one of the juvenile and one of the adult variant are described and compared with those mentioned in relevant publications. Comparison of our findings lead us to conclude that a difference exists between the late infantile case on the one hand and the juvenile and the adult case on the other hand. This conclusion concurs with the results obtained by the enzymological study of the enzyme arylsulfatase A derived from the three cases. As to the characteristics of the enzyme arylsulfatase A, a difference was found to exist between the enzyme of the late infantile case on the one hand and that of the juvenile and the adult case on the other hand. The results of the electronmicroscopic investigation of peripheral nerve biopsy specimens of the three cases are briefly summarized. It is postulated that the ultrastructural findings do not justify any such distinction.

Adolescent↗
PubMed1978

Metachromatic leukodystrophy: a comparative study of the ultrastructural findings in the peripheral nervous system of three cases, one of the late infantile, one of the juvenile and one of the adult form of the disease.

The ultrastructural findings in the peripheral nerve of three cases of M. L. D., namely of the late infantile, the juvenile and the adult form are described. The pathological changes consist of two phenomena: segmental demyelination and lysosomal storage of sulfatides, both probably separate results of a deficiency of the enzyme Arylsulfatase A. Some differences are found in the degree of segmental demyelination and the type of lysosomal storage products. A possible relation between these differences and the supposed difference in the defect of the enzyme Arylsulfatase A, responsible for the different subtypes of the disease, is postulated.

Adolescent↗