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Biomedical subjects

J Dooley

Publications and source records attributed to J Dooley.

At least 55 records · Page 3Linked to original sources
PubMed1993

Outcome of childhood epilepsy: a population-based study with a simple predictive scoring system for those treated with medication.

A population-based study was conducted in an attempt to predict which child's epilepsy will remit. Use of data from a regional electroencephalography laboratory allowed identification of all children in Nova Scotia with epilepsy onset from 1977 through 1985 (excluding those with absence and "minor motor" seizures). Children were followed for an average of 7 years. On the basis of clinical characteristics, a multivariate analysis was used to develop a scoring scheme to predict remission (defined as off medication at the end of the follow-up period). Survival curve methods were used to estimate the duration of medication treatment for those with remission. Of the 504 eligible patients, approximately 70% became seizure free long enough to discontinue medication. Approximately 70% of those stopping medication a first time remained seizure free. At the end of follow-up, 55% of the total cohort were in remission. At diagnosis, the best predictors of remission were age < 12 years at onset, normal intelligence, no prior neonatal seizures, and fewer than 21 seizures before treatment. If predicted to have a remission, then, on the basis of survival curve analysis, 80% were without medication 100 months after diagnosis. After 12 months of treatment, prediction was enhanced by including a score for the number of seizures between 6 and 12 months on treatment. We conclude that approximately 55% of childhood epilepsy will remit. Our scoring system predicts reasonably accurately who will have a remission and when medication is likely to be discontinued.

Child↗
PubMed1993

Biologic factors as predictors of social outcome of epilepsy in intellectually normal children: a population-based study.

We studied social outcome for all the normally intelligent children in our province with onset of epilepsy between 1977 and 1985 (excluding absence and "minor motor" seizures). After follow-up averaging 7 1/2 years, the 337 patients were 7 to 28 years of age. Outcome measures were age dependent. Of those old enough to be at risk, the percentage with each unfavorable outcome was as follows: school failure 34%, use of special educational resources 34%, mental health consultation 22%, psychotropic medication 5%, unemployment 20%, social isolation 27%, inadvertent pregnancy 12%, and criminal conviction 2%. In social isolation 27%, inadvertent pregnancy 12%, and criminal conviction 2%. In a multivariate model correcting for number of potential unfavorable outcomes (based on age at end of follow-up), many variables related to epilepsy, seizure control, and electroencephalographic findings were not associated with social outcome. Only two variables were associated with at least one unfavorable outcome--learning disorder (p < 0.001) and more than 21 seizures before treatment was begun (p < 0.03). The only variable with no unfavorable outcome was simple partial seizures (p < 0.003). Sensitivity and specificity of this model were 54% and 68%, respectively, indicating that social outcome for these children was often not related to biologic factors reflected by the medical details and clinical course of their disorder.

Adolescent↗
PubMed1993

The association of Chiari type I malformation and neurofibromatosis type 1.

The association of neurofibromatosis type 1 (NF1) with Chiari malformations of the cerebellum and brain stem has been reported on only two previous occasions. The pathogenesis of both conditions has remained unclear, although the Chiari type I malformation is most likely due to hypoplasia of the posterior fossa with subsequent extension of the cerebellum through the foramen magnum. NF1 is also associated with a variety of cerebral dysplasias. We present a patient with both of these dysplastic lesions whose Chiari malformation was asymptomatic.

Adolescent↗
PubMed1993

Chromosome 17 allele loss in hepatocellular carcinoma but not in synchronous liver adenoma.

A 51-year-old female underwent resection of two synchronous liver tumours, a hepatocellular carcinoma and an adenoma. DNA analysis revealed allele loss on chromosome 17 (17p13, near the locus of p53 tumour suppressor gene) in the hepatocellular carcinoma but not in the adenoma. This finding may support the view that loss of p53 tumour suppressor gene is associated with tumour progression.

Carcinoma, Hepatocellular↗
PubMed1993

Multiple hereditary exostoses. An epidemiologic study of an isolated community in Manitoba.

From 1986 through 1988, 266 persons (149 adults and 117 children) were screened for multiple hereditary exostosis (MHE) in an isolated northern Ojibway community. Physical examination and confirmation by roentgenogram skeletal survey disclosed 21 children (19.4%) and 14 adults (9.5%) affected with MHE. Forty-one percent of children had lesions detectable before ten years of age, some as early as two years of age. Seventy-four percent of the lesions were characteristically sessile. Although lesions about the knee were most common, sites previously thought to be uncommon such as the metatarsals, hand, and spine were involved in 40% of the children. No cases of malignant degeneration have occurred in the adult population. Severity and multiplicity of lesions in successive generations point to an oncogenic gene origin. This study shows striking variance from current literature and provides a unique and valuable baseline assessment of research on the cause and natural history of MHE.

Adolescent↗
PubMed1992

Value of exfoliative cytology for investigating bile duct strictures.

The cause of a biliary tract stricture may be difficult to determine radiologically. Exfoliative biliary cytology was evaluated in 62 patients (median age 65 years, range 30-94) with biliary tract strictures presenting to the Hepatobiliary Unit between January 1984 and December 1989. Bile samples were taken during endoscopic retrograde cholangiopancreatography (ERCP) in 42 patients, percutaneous cholangiography in 14, and both in six. The site of stricturing was upper third of the bile duct in 43% (n = 27), middle third in 10% (n = six), and lower third in 47% (n = 29). Of the 47 patients with radiological appearances of a malignant stricture, 22 (47%) had histological confirmation by biopsy either under computed tomography guidance, at endoscopy, at operation, or at necropsy. Fourteen of the 47 patients had positive cytology (30%). In seven patients cytology alone established the presence of malignancy (15%) and in the other seven positive cytology was confirmed by histology. The addition of cytology to tissue biopsy therefore allowed malignancy to be confirmed in 29 of the 47 patients (62%). None of the 15 patients subsequently shown to have benign disease had positive cytology. Sensitivity of the technique was 30% and specificity 100%. Samples for exfoliative cytology are simple to obtain, the results are highly specific and should be a routine part of the investigation of biliary strictures.

Adult↗
PubMed1992

Different DNA changes in primary and recurrent hepatocellular carcinoma.

DNA restriction fragment length polymorphism analysis was carried out on a primary and recurrent hepatocellular carcinoma in a hepatitis B virus negative patient. For the primary tumour, allele losses were found on the short arm of chromosome 17 (probe: p144-D6, 17p13) and the long arm of chromosome 5 with the probe Lambda MS8 (5q35-qter); other probes showed either no allele loss or a non-informative pattern. The recurrent cancer also showed allele loss with p144-D6, but not with Lambda MS8. In addition, the recurrent tumour had allele losses with Lambda MS43 (12q24.3-qter), pYNZ22 (17p13), and DNA rearrangement revealed by the probe Lambda MS32 (1q42-43), a pattern not seen in the primary lesion. These results indicate that the second hepatocellular carcinoma was of independent clonality and probably represents a de novo neoplasm rather than a recurrence.

Aged↗
PubMed1992

A prospective controlled study comparing brush and bile exfoliative cytology for diagnosing bile duct strictures.

Imaging of biliary strictures may suggest malignancy but cytology can provide a tissue diagnosis. The aim of this study is to compare the diagnostic value of brush cytology and bile cytology. Thirty two patients (20 males, 12 females, median age 66 years, range 31-84) with biliary strictures at endoscopic retrograde cholangio pancreatography (24) or percutaneous transhepatic cholangiography (8) had bile cytology and brush cytology. Brushings were taken using a modified Geenan cytology brush (6 Fr gauge, Wilson Cook) passed alongside a guide wire placed through the stricture. Bile was aspirated after insertion of an internal/external catheter or an endoprosthesis. Bile and brushings were examined by one experienced cytologist (AD) and was reported as positive or negative for malignant cells. Twenty nine patients had malignant strictures. Sixteen were confirmed by histology and 13 had malignancy suggested by clinical follow up. Three patients had resection of histologically benign strictures. The overall sensitivity of brush cytology (17 of 29 positive, 59%) was significantly greater than bile cytology (seven of 29 positive, 24%) (p < 0.01) as was the diagnostic accuracy (63 v 31%, p < 0.01). None of the patients had positive bile cytology with negative brush cytology. There were no procedure related complications and the average sampling time once the guide wire had been inserted was less than five minutes. It is concluded that brush cytology is more sensitive than bile cytology and with the technique described is safe and rapid.

Adult↗
PubMed1991

Loss of constitutional heterozygosity on chromosome 5q in hepatocellular carcinoma without cirrhosis.

Suppressor gene loci involved in the development of hepatocellular carcinoma (HCC) have not been fully identified. The aim of this study was to look for consistent allele loss, or loss of heterozygosity (LOH), in HCC which might represent such gene loci. We have prepared DNA from tumour and non-tumour material from 16 patients with HCC (nine with and seven without liver cirrhosis). Tumour DNA was compared with non-tumour DNA by Southern analysis performed with a panel of 22 probes recognising restriction fragment length polymorphisms assigned to chromosomes 1, 4, 5, 7, 9, 11, 12, 13, 14, 16, 17, 18 and 20. Non-tumour DNA from five of the seven patients with HCC without cirrhosis was heterozygous with the probe Lambda MS8 (5q35-qter), and in all five there was LOH in tumour DNA. Probes for other regions of chromosome 5 have as yet shown no LOH in this group of patients. Cirrhotic HCC patients exhibited LOH on chromosomes 1q and 5p but not in the region 5q35-qter. Both groups of HCC showed LOH on chromosome 17p13. Screening with other probes has not shown any consistent LOH in either group as yet. A comparison of LOH on chromosome 5 in seven patients with colorectal metastasis in the liver showed a different pattern, which suggests that the proposed tumour suppressor gene locus for HCC without cirrhosis on chromosome 5 appears to be distinct from the familial adenomatous polyposis coli gene.

Carcinoma, Hepatocellular↗
PubMed1991

Hepatolithiasis associated with anomalous biliary anatomy and a vascular compression. Hepatolithiasis and anomalous anatomy.

Biliary tract abnormalities occur in about one of every three people, usually being minor and of no clinical significance. Major abnormalities, however, may present in an unusual manner and provide a major hazard to the unsuspecting surgeon. A patient presenting with cholangitis without jaundice or abnormal liver function tests is reported. Endoscopic retrograde cholangiography failed to demonstrate any bile ducts in the right postero-lateral segments of the liver, the "naked segment sign". A percutaneous transhepatic cholangiogram demonstrated a stricture obstructing the right posterior segmental hepatic duct with hepatolithiasis above the stricture. At operation an anomalous vessel was found at the site of the stricture. This case highlights the unusual way in which biliary tract anomalies may present and the importance of adequate pre-operative investigation.

Aged↗
PubMed1991

Benign familial neonatal convulsions are epileptic.

An infant with benign familial neonatal convulsions fortuitously had a clinical seizure during a routine EEG. The seizures had started on day 2 of life, and the EEG recording was performed on day 6. The EEG, although not complete, did show a simultaneous electrographic seizure. Our finding establishes that benign familial neonatal convulsions are indeed epileptic.

Cerebral Cortex↗
PubMed1989

Routine screening of blood and urine for severe reactions to anticonvulsant drugs in asymptomatic patients is of doubtful value.

Severe or fatal reactions to anticonvulsant agents are fortunately rare. We examined the value of routine screening of blood and urine to detect early signs of such reactions in asymptomatic patients. The basic assumptions of this type of screening program have been faulty or unproven, and the results of studies, although not definitive, have not supported the value of such programs. Our recommendations, approved by the Canadian Association for Child Neurology, suggest that asymptomatic patients not undergo routine screening of blood and urine but, rather, be informed of the early symptoms of severe toxic reactions and be asked to report them immediately to a physician.

Adult↗
PubMed1989

A randomized study of carbamazepine versus no medication after a first unprovoked seizure in childhood.

We randomized 31 children with a 1st afebrile unprovoked seizure to receive carbamazepine (CBZ) or no medication for 1 year or until the time of a 2nd seizure. All seizures had a focal onset or were generalized tonic-clonic. Overall, 2/14 randomized to CBZ and 9/17 with no medication had a recurrent afebrile seizure. Compliance with CBZ was excellent in 12/14, but noncompliance may have contributed to 1 of the recurrences with CBZ. Four discontinued CBZ because of side effects. Two additional children taking CBZ had a febrile seizure. Thus, only 6/14 taking CBZ had a year completely seizure-free with no unacceptable medication side effects. Of those taking no medication, 2 had a febrile recurrence, and 7/17 had a year completely-seizure free. Side effects and febrile recurrences may limit the value of CBZ for some children, although CBZ appears to reduce significantly recurrences after a 1st afebrile seizure.

Carbamazepine↗
PubMed1988

Clobazam for refractory childhood seizure disorders--a valuable supplementary drug.

Clobazam is a new benzodiazepine recently introduced in Canada on an experimental basis. We report our experience with 27 children (average age 9.1 years) with severe intractable seizure disorders. All had mixed seizures (41% focal plus generalized, 59% mixed generalized) and 93% were mentally retarded. Eighty-five percent had multiple daily seizures and all had been on an average of 6 other anticonvulsants in the past. Forty-one percent of our patients responded to clobazam with a reduction of greater than 75% in seizure frequency and 15% had no further seizures. Tolerance to clobazam which could not be overcome by dose increases developed in 26% of patients. Forty-four percent of non-responders had exacerbations of their seizures shortly after starting clobazam, however 43% of these patients had reductions in comedications simultaneously. Side effects of clobazam in responders were minimal. We conclude that clobazam shows sufficient promise to warrant further trials in more benign seizure disorders in children.

Adolescent↗