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Biomedical subjects

J E Jan

Publications and source records attributed to J E Jan.

At least 73 records · Page 4Linked to original sources
PubMed1986

Free and total serum valproate concentrations: their relationship to seizure control, liver enzymes and plasma ammonia in children.

The relationships between total and free serum valproate (VPA) concentrations and seizure control, serum liver enzyme activity and plasma ammonia concentration were studied in 61 epileptic children. Enzyme-immunoassay (EMIT)R methods gave higher values of total VPA concentration than gas-liquid chromatography (GLC) methods. In over 80% of children with complete seizure control the ranges of total VPA concentration were 140-420 mumol/L with GLC methods and 210-560 mumol/L with EMIT methods. The range of free VPA concentrations in 78% of children with complete seizure control was 8.8-26.4 mumol/L. Increased liver enzyme activity was observed in 6 of the 61 children and raised plasma ammonia concentration in 11 of 50 children. Plasma ammonia concentration was related to total serum VPA but was not related to free serum VPA. Increased serum liver enzyme activity was related to VPA dose per kg but not to free or total serum VPA concentration. Thus free VPA concentrations do not appear to be more useful than total VPA concentrations in predicting seizure control and do not correlate with liver enzyme activity or plasma ammonia concentration.

Adolescent↗
PubMed1986

Electroencephalograms of children with permanent cortical visual impairment.

The electroencephalograms of 40 children with permanent cortical visual impairment (CVI) were studied. CVI was diagnosed in the presence of severe visual loss, normal or minimal ocular findings and clinical, electrodiagnostic and CT evidence of postgeniculate lesions involving the visual cortex. All patients had a multidisciplinary evaluation, including extensive neurological and ophthalmological investigations. The records did not contain any specific features which would be diagnostic of CVI. Isolated occipital spikes were rare and more commonly multifocal EEG disturbance was seen because of diffuse cerebral involvement. Photic stimulation was of little use in the diagnosis. Multihandicapped children with profound CVI tended to show multifocal abnormalities, no alpha rhythm and a suppressed posterior waking background in their EEGs, whereas those with more residual vision usually had an alpha rhythm. The presence or absence of alpha rhythm seemed to reflect the intactness of the striate cortex. However, the lack of alpha rhythm was not always associated with total blindness and not all children with useful residual vision had alpha rhythm.

Adolescent↗
PubMed1986

Eye and head movements of visually impaired children.

Fixation, nystagmus, pursuit, rapid voluntary, other types of eye movements and associated head movements of visually impaired children were studied. It was concluded that their eye and head movements reflect the severity and onset of their visual loss.

Child↗
PubMed1985

Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia. A review of 16 cases.

Sixteen children had congenital optic nerve hypoplasia and hypothalamic-pituitary dysplasia. Investigation disclosed an extremely variable spectrum of neuroendocrinological findings that ranged from deficiency to hypersecretion of trophic hormone. Neuroendocrine abnormalities consisted mainly of trophic hormone deficiencies, the most common being growth hormone deficiency, but trophic hormone hypersecretion, including growth hormone, corticotropin, and prolactin was found as well. The extent of anterior pituitary hormone deficiency was variable. Anti-diuretic hormone deficiency was presented in two patients. Our findings support the concept of hypothalamic defect as the major cause for the pituitary dysfunction in this syndrome. Physicians should be aware of this syndrome as a common cause for growth failure and multiple pituitary hormone deficiencies in visually impaired children, which would facilitate the diagnosis and early institution of therapy for this treatable but potentially serious entity.

Adolescent↗
PubMed1985

Permanent cortical visual impairment in children.

Fifty patients with permanent cortical visual impairment were evaluated. They had a characteristic behaviour profile, usually with residual sight but poor visual attention. 30 of the 50 also had damage to the anterior visual pathway. Visual evoked potential mapping was shown to have a clear advantage over visual evoked responses, and using that in conjunction with CT and clinical data enabled several subgroups of cortical visual impairment to be identified. The diagnosis probably is more common than previously recognised, and should be suspected when there is greater delay in visual development in other areas and the degree of visual loss is unexplained by ocular findings. Using traditional criteria for cortical blindness may mean that many children are not diagnosed, which has serious implications for their rehabilitation.

Adolescent↗
PubMed1985

Permanent visual loss after shunt malfunction.

Fourteen (1.8%) of more than 800 children evaluated in a Visually Impaired Program over 10 years became permanently blind during an episode of raised intracranial pressure secondary to shunt malfunction. Visual symptoms and papilledema were recognized in only three children at the onset of blindness. Clinical and radiologic findings suggested that the loss of sight was caused by a lesion in the pregeniculate pathway in nine patients, probably due to ischemia; five children in the postgeniculate group sustained infarcts of the occipital lobes. These cases highlight the importance of parent education and prompt treatment of raised intracranial pressure due to shunt malfunction.

Blindness↗
PubMed1985

Dystonia and calcification of the basal ganglia.

We studied a family with dominantly inherited dystonia and intracranial calcification. Thirty-seven members were examined; 13 were affected by dystonia that was segmental in most patients, affecting especially the voice, face, neck, and limbs. Intracranial calcification involved the putamen, pallidum, cerebral white matter and cortex, and cerebellar nuclei. Several patients had both dystonia and calcification, but others had either dystonia or calcification alone.

Adult↗
PubMed1984

Clinical spectrum of congenital optic nerve hypoplasia: review of 51 patients.

Fifty-one patients with congenital optic nerve hypoplasia (CONH) were reviewed. It was found that the risk of having an affected child is higher in an adolescent mother, and that maternal alcohol or drug abuse may be important factors. Frequently the disorder is associated with other neuropsychiatric handicaps, and with neuro-endocrine abnormalities. The findings suggest that CONH probably is not a homogeneous group of disorders; some may be caused by primary failure of differentiation of the retinal ganglion cells, while others may be the product of an acquired transsynaptic degeneration of optic-nerve fibres.

Abnormalities, Multiple↗
PubMed1983

Eye-pressing by visually impaired children.

Many children with severely impaired sight exhibit stereotyped mannerisms. Visual self-stimulation, e.g. eye-pressing and light-gazing, normally is restricted to the visually impaired; prolonged eye-pressing is the most common. This behaviour depends on onset of visual impairment, age, degree and quality of residual light, type of ocular abnormality, the presence of additional handicaps, and the activities in which the child is involved. Children with bilateral optic-nerve defects never press their eyes; those with retinal disorders tend to press vigorously. A possible physiological explanation is that self-stimulation occurs when the demand of the brain for meaningful visual information is not adequately met.

Adolescent↗
PubMed1979

Follow-up of intrauterine transfused surviving children.

The long-term effects of intrauterine transfusion (IUT) are still being assessed since the procedure was first reported in 1963. Therefore, we undertook a follow-up study on the survivors of 57 infants who received IUT's between 1966 and 1975. Forty-two infants were born alive, but 15 died in the neonatal period. Overall survival was 27/57 (48%). An extensive follow-up examination was carried out at age 22 months to 10 years in 21/27 survivors. Height was below the third percentile in one child and head circumference above the mean and 2 SD in another. Of 21 children, 19 had normal vision, one was slightly myopic, and one had hyperopia. One child had unilateral high-frequency hearing loss. All had normal EEG's and none have mental retardation but 2/21 have "major" and 6/21 have "minor" neurologic signs. No evidence of passive antibody transfer was found, but minor disturbances of immunoglobulin levels were present.

Blood Cell Count↗
PubMed1979

Progressive rubella panencephalitis: clinical course and response to 'isoprinosine'.

This report describes the clinical course of a 16-year-old Canadian-born Chinese boy who has progressive rubella panencephalitis. The progression, the lack of response to 'Isoprenosine', and the additional finding of myopathy are discussed. The clinical and pathological features of this rare, progressive neurological disorder are also summarized. In view of the last major rubella pandemic occuring in the mid-60s, it is likely that during the next few years physicians will diagnose an increased number of patients with this distinct neurological entity.

Adolescent↗
PubMed1977

A new variety of hereditary sensory neuropathy.

A pedigree with a new form of hereditary sensory neuropathy is described. Ataxia and scoliosis rather than loss of pain and ulcerating acropathy are the principal clinical feature. Analysis of the pedigree suggests a dominant mode of transmission with variable age of onset and perhaps reduced penetrance.

Ataxia↗
PubMed1977

Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.

During the course of investigating a 10-year-old boy because of progressive deterioration of intellectual functioning, ataxia, and hemiplegia, an absence of serum hexosaminidase activity was noted. A skin biopsy examined by electron microscopy showed axonal accumulations of dense osmiophilic deposits. Because of the patient's age at onset and the slowly progressive nature of his ilness, we are reporting an atypical juvenile case of Sandhoff disease.

Age Factors↗
PubMed1977

Syndrome of myopathy, short stature, seizures, retinitis pigmentosa, and cleft lip.

A five-year-old boy is presented with an undifferentiated myopathy, retinitis pigmentosa, incomplete cleft lip, short stature (less than third percentile), mild delay in development, and seizures. To date, no etiology or pathogenetic mechanism has been discovered to account for these, and no similar cases have been encountered in the literature.

Body Height↗
PubMed1976

Familial congenital monochromatism, cataracts, and sensorineural deafness.

Two sisters had diagnoses of congenital monochromatism, cataracts, bilateral nonprogressive sensorineural deafness, and hyperinsulinism in both, and labyrinthine dysfunction in one. This recessively inherited condition is added to the growing number of syndromes in which one of the features may be a disturbance of hypothalamic function.

Cataract↗