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Biomedical subjects

J M Dooley

Publications and source records attributed to J M Dooley.

At least 55 records · Page 3Linked to original sources
PubMed1990

The value of CT scans for children with headaches.

We studied the value of CT scans for all children referred because of headache to one secondary and one tertiary pediatric centre during a 1 year period. Of 117 children who were seen by the Pediatric Neurology Service, at the I.W.K. Children's Hospital, 4 had CT scans and only 1 of these was abnormal. The consultant Pediatrician saw 40 children because of headache. CT scans were done on 3 of these patients and all were normal. None of the children who had a clinical assessment alone had unrecognized neurological disease during 20 months of follow-up. Therefore only 1 of 157 children had significant intracranial pathology. We conclude that CT scans have a limited role in the management of children with headache.

Adolescent↗
PubMed1990

Stretch syncope in adolescence.

We describe 6 adolescents with syncope induced by stretching with the neck hyperextended. Studies of the cardiovascular responses to stretching and Valsalva in these patients were the same as controls, indicating that the mechanism is not simply Valsalva but may also involve vertebral artery compression coupled with a familial tendency to faint.

Adolescent↗
PubMed1990

Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated.

We describe a 29-year-old male with untreated primary neonatal hyperparathyroidism. Hypotonia, poor feeding, failure to thrive, and developmental delay were noted in early infancy and in incidental serum calcium of 3.8 mmol/L was dismissed as a laboratory error. Childhood was characterized by profound muscle wasting and progressive spastic quadriparesis. Distinctive skeletal deformities, facial dysmorphism, and perichondral calcifications are now evident in adulthood. Elevated serum calcium (range: 2.7-3.3 mM; normal less than 2.7 mM), serum immunoreactive parathyroid hormone (range: 1,405-1,817 pg/mL; normal 50-140 pg/mL), and markedly decreased urinary calcium excretion (0.04 mumol/dL glomerular filtrate; normal greater than 25) suggested the diagnosis of primary neonatal hyperparathyroidism. This was supported by evidence of hypocalciuric hypercalcemia--the autosomal dominant carrier state--in both the parents. Our case illustrates the profound neurodevelopmental deficits arising from sustained hypercalcemia in infancy and childhood. Although this disorder is not lethal, it should be considered a neonatal emergency, since surgical parathyroidectomy can result in cure.

Adult↗
PubMed1989

Home use of rectal diazepam to prevent status epilepticus in children with convulsive disorders.

Thirty families were taught to administer rectal liquid diazepam to their children to stop a seizure at home. Twelve children had previous prolonged afebrile seizures, and 18 had either prolonged or repeated febrile seizures. During follow-up, 17 of the 30 families administered the rectal diazepam an average of three times per child with no complications. Fifteen of 17 families reported prompt cessation of the seizure, while in two the rectal diazepam was unsuccessful and hospital treatment was needed. We conclude that rectal diazepam is a useful adjunctive home treatment for children at risk for prolonged seizures. Hospitalization is decreased and parental confidence increased. Without our knowledge, twelve families taught others how to give the rectal diazepam, a practice that might be hazardous and should be anticipated.

Administration, Rectal↗
PubMed1988

Changes in serum anticonvulsant levels with febrile illness in children with epilepsy.

Changes in anticonvulsant serum levels during intercurrent illness may cause toxicity or decreased seizure control in children with epilepsy. We studied prospectively the effect of intercurrent illness and its treatment in 111 children being treated with AC monotherapy. Free fraction and total serum AC levels were determined when the child was well, on the fifth day of any illness with fever and one month after recovery. There were 55 episodes of febrile illness in 39 children during the study period. Twelve illnesses were associated with significant increases or decreases in serum AC levels; 7 children became clinically toxic; 1 child had increased seizures during illness. The mechanisms of AC level changes appeared to include interaction with antibiotics, with antipyretics or with viral illness. Amoxycillin and acetaminophen did not appear to interact with the AC's used. Physicians caring for children with epilepsy should be aware of the frequency and complexity of potential interactions between intercurrent febrile illness and anticonvulsant medication.

Adolescent↗
PubMed1987

Clinical valproate toxicity induced by acetylsalicylic acid.

We report three patients with serious clinical valproate (VPA) toxicity induced by interaction with acetylsalicylic acid (ASA). Two patients had a documented rise in VPA free level, and the third showed only clinical signs of toxicity. Symptoms resolved in all three when the ASA was stopped. This interaction has been previously documented under experimental conditions, and is due to displacement of VPA from plasma protein binding sites and a probable interference in metabolism. This is the first report of the clinical significance of this interaction.

Adolescent↗
PubMed1986

Topical therapy for oropharyngeal symptoms of myasthenia gravis.

Inhibitors of acetylcholinesterase are commonly used in the treatment of myasthenia gravis. We studied a patient with mainly bulbar myasthenia gravis who did not tolerate oral pyridostigmine despite a clear clinical response. Treatment with nebulized pyridostigmine reduced her symptoms without systemic side effects. This route of therapy may benefit other patients.

Aerosols↗
PubMed1986

Vein of Galen malformation with cerebral calcification: a reversible cause of neurodegenerative disease.

This paper reports two children who had mental retardation as the predominant manifestation of vein of Galen malformations. C.T. scans demonstrated extensive intracerebral calcification. Surgery reversed the progressive downhill course in one patient and may have arrested further deterioration in the other. The pathophysiological mechanisms underlying the clinical and radiographic features are discussed.

Brain↗
PubMed1985

Adrenoleukodystrophy mimicking multiple sclerosis.

We report a 47 year old woman who was initially diagnosed as having multiple sclerosis. She has subsequently been found to be heterozygous for adrenoleukodystrophy (ALD). The female carrier state for ALD may be associated with intermittent symptoms and it is therefore important to consider ALD in patients diagnosed as multiple sclerosis.

Adrenoleukodystrophy↗
PubMed1985

Epilepsy after a first unprovoked seizure in childhood.

One hundred sixty-eight children with an initial afebrile, unprovoked seizure were identified from a regional EEG laboratory. This case-finding method seemed justified because 86% of regional physicians indicated they order an EEG after a first seizure. Clinical information and recurrence rate were determined from records and telephone calls. Eighty-one percent had been seen by a pediatric neurologist. Overall, 51.8% recurred, and of those with a recurrence, 79% had additional seizures. Recurrence rates were highest in those with abnormal neurologic examination, focal spikes on EEG, and complex partial seizures. The lowest rates of recurrence followed a generalized tonic-clonic seizure, with normal EEG and normal neurologic examination. Prescription of anticonvulsants did not alter the recurrence rate.

Child↗
PubMed1983

Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).

A 79-year-old white man of Irish descent presented with lattice corneal dystrophy, blepharochalasis, and peripheral seventh cranial nerve palsies. Family studies revealed that his 23-year-old daughter had early lattice cornea dystrophy. The corneal button removed by penetrating keratoplasty exhibited characteristic amyloid accumulation by light and electron microscopy. Biopsy of the patient's normal appearing conjunctiva and skin of the lower lid revealed amyloid. Biopsy of the daughter's conjunctiva was negative for amyloid, but her lid skin had characteristic amyloid deposits by light and electron microscopy. Immunoperoxidase strains were negative for AA and AP and serum prealbumin and SAA proteins were normal. Meretoja's syndrome has rarely been described outside a small geographic region in Finland. The clinical and histopathologic findings of this entity are discussed and contrasted to isolated "lattice corneal dystrophy."

Aged↗
PubMed1981

The puppet-like syndrome of Angelman.

Five new cases are presented of a syndrome characterized mainly by severe mental retardation, epilepsy, puppet-like ataxic movements, microbrachycephaly, prognathism, tongue protrusion, and inappropriate paroxysms of laughter. The cases are analyzed with reference to personal and family histories, clinical findings, and results of special investigations (biochemical, chromosomal, dermatoglyphic, EEG, and radiologic). The findings are compared with those in the 22 patients described previously. Though clinically distinctive, there is as yet no clear-cut evidence as to cause.

Adolescent↗
PubMed1981

Clinical progression of giant-axonal neuropathy over a twelve year period.

Giant-axonal neuropathy (GAN), a chronic peripheral neuropathy with associated Central Nervous System dysfunction and tight curly hair, is described in a 17-year-old girl. Biopsies of this girl's muscle and nerve are characteristic of this condition. Her clinical course over a 12 year period characterizes a disease of a slowly progressive nature.

Axons↗