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Biomedical subjects

E Fagan

Publications and source records attributed to E Fagan.

At least 19 recordsLinked to original sources
PubMed2001

Asymptomatic intracranial hypertension in disorders of CSF circulation in childhood--treated and untreated.

Twelve patients are described who were found to have asymptomatic intracranial hypertension monitored over an extended (6 months to 6 years) period. There were three groups: 5 patients with treated hydrocephalus with an apparently functioning shunt, 4 patients with untreated hydrocephalus, clinically and radiologically nonprogressive, and 3 patients with pseudotumor cerebri, 2 treated and 1 untreated. Although the magnitude of the intracranial pressure changes varied, all patients had abnormal baseline pressures together with repeated A and B waves. In no case was there any clinical manifestation of raised intracranial pressure and in all cases ventricular size remained constant over the period of evaluation. The clinical and pathophysiological implications of these findings are discussed.

Cerebral Ventricles↗
PubMed2000

The value of partial sleep deprivation as a routine measure in pediatric electroencephalography.

For more than 50 years it has been known that in patients with epilepsy, sleep markedly increases the diagnostic yield of the electroencephalogram (EEG). Sleep deprivation could have an additional activating role. Many laboratories do not use these methods routinely but reserve them for a second EEG if equivocal or negative findings are present in the initial EEG. We studied a regime of routine partial sleep deprivation without the use of hypnotic agents in 396 children younger than age 17 years who were referred for EEG with a diagnosis of epilepsy or suspected epilepsy. Sleep was achieved for the EEG in 77% (96% in the 1 month to 2 year age group, 78% in the 2 to 8 year age group, and in 64% of those more than 8 years old). In a comparison group of 72 children who had not been sleep-deprived, sleep was achieved in 44% (69% of those less than 2 years old, 27% of those between 2 and 8 years of age, and 33% of those older than 8 years). The differences were highly significant. The regime was well tolerated. Routine partial sleep deprivation is a practical and effective method of obtaining sleep and thus maximizing the information obtained from a single EEG.

Adolescent↗
PubMed1999

Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings.

Canavan disease (CD) or N-acetylaspartic aciduria (NAA) is a severe, progressive, autosomal recessive leukodystrophy, occurring mainly among Ashkenazi Jewish individuals. We report clinical and MRI findings in two, non-Jewish, Greek siblings, 7 and 5 years, respectively, with a protracted form of NAA. The constellation of identical clinical course and identical MRI findings with involvement of the basal ganglia, the brainstem, the dentate nucleus and the subcortical white matter in both siblings, as well as the absence of the three commonest mutations found in both Jewish and non-Jewish CD patients, give support to the existence of a protracted form of NAA with a milder clinical course, presumably genetically determined.

Aspartic Acid↗
PubMed1997

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

Deficiency of complex I (reduced nicotinamide adenine dinucleotide dehydrogenase-ubiquinone oxidoreductase) of the mitochondrial respiratory chain may be seen as a pure myopathy or as a neuromuscular disorder at presentation. Efficacy of long- term therapy for these disorders is yet to be established. We report the case of a female patient with complex I deficiency and skeletal myopathy, who has had a sustained clinical response to riboflavin during 3 years of therapy. Molecular studies found no mutations in the putative flavin mononucleotide binding site in the 51 kd subunit of complex I, but a T-to-C transition at nucleotide 3250 in the mitochondrial DNA tRNA(Leu(UUR)) gene was identified. This mutation has been reported in one other family in that five members had fatigue with or without muscle weakness. There were also five cases of unexplained infant deaths in that family and two cases in the family reported here. Riboflavin therapy should be attempted in all patients with complex I deficiency when the clinical presentation is one of isolated skeletal myopathy.

Carnitine↗
PubMed1997

Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia.

To report the first case of carbohydrate deficient glycoprotein syndrome Type I (CDG I) that has been identified in Australia and confirmed enzymatically to raise the awareness of paediatricians with regard to CDG I and its manifestations, implications and diagnostic investigations. Clinical and autopsy findings of an infant with CDG I are presented. The diagnosis of CDG I was suggested by the clinical findings and biochemical abnormalities and was confirmed by showing an abnormal transferrin isoform pattern. Subsequent studies showed a reduced level of phosphomannomutase in skin fibroblasts. Carbohydrate-deficient glycoprotein syndrome I is one of the many causes of cerebellar hypoplasia. It is an important disorder to identify because of the prognostic and genetic implications and may be underdiagnosed in Australia.

Cerebellum↗
PubMed1994

Optic gliomas in neurofibromatosis type 1: role of visual evoked potentials.

Optic gliomas occur in 15% of patients with neurofibromatosis type 1 (NF 1) and are a significant cause of morbidity. Of these tumors, 20-30% become symptomatic, usually before age 10 years. Previous studies have suggested that visual evoked potentials (VEPs) are a sensitive method for the detection of asymptomatic optic gliomas. Because routine neuroimaging of children with NF 1 is currently not recommended, the role of pattern-shift VEPs (PS VEPs) as a screening test for optic gliomas was evaluated. PS VEPs were performed on 10 children with NF 1 and optic gliomas and 20 children with NF 1 and normal visual pathways (as defined on MRI). PS VEPs had 90% sensitivity for detecting optic gliomas, with an increase in sensitivity to 100% when hemifield stimulation was used. The specificity of the test was 60%. Four of 20 children without optic gliomas had thickened optic nerves on computed tomography which represented dural ectasia with normal visual pathways on MRI; PS VEPs were normal in these patients. The efficacy of PS VEPs as a routine screen for optic gliomas is limited by the age at which children will cooperate with the test procedure and the high incidence of false-positive results; however, VEPs do provide a useful adjunct to routine clinical ophthalmologic assessment in the detection of optic gliomas in children with NF 1. Abnormal test results provide a stronger indication for neuroimaging. The early detection of optic gliomas allows for close monitoring of tumor progression and earlier intervention prior to significant visual loss.

Adolescent↗
PubMed1993

Infectious sequelae after endoscopic sclerotherapy of oesophageal varices: role of antibiotic prophylaxis.

In order to determine the incidence of infection following sclerotherapy and the role of antimicrobial prophylaxis, a prospective randomized control study was performed comparing i.v. imipenem/cilastatin, with an infusion of dextrose-saline as a control group. One hundred patients with bleeding esophageal varices were included. All episodes of infection were documented during admission to the unit. Ninety-seven patients were evaluable. Post-sclerotherapy bacteremia developed in six (5.6%) of 107 sclerotherapy sessions in the control group and one (1.1%) of the 88 sclerotherapy sessions in the imipenem/cilastatin group (P < or = 0.1, NS): six of these seven post-sclerotherapy bacteremias occurred after emergency sclerotherapy. Infection within 7 days of the procedure was documented after 43 (22.1%) of the 195 sclerotherapy sessions, 18 (20.5%) in the imipenem/cilastatin group and 25 (23.4%) in the control group (P = NS). These infections were significantly more common after emergency sclerotherapy, 40 (34.8%) of 115 sessions, than after elective sclerotherapy, three (3.8%) of 80 sessions (P < or = 0.0001). A short prophylactic antibiotic regime does not reduce the risk of early bacteremia or the frequency of infection after sclerotherapy. The higher risk of infection after emergency sclerotherapy may be therefore related more to the gastrointestinal hemorrhage and its associated effects than to sclerotherapy.

Adolescent↗
PubMed1993

Breathing abnormalities in sleep in achondroplasia.

Overnight sleep studies were performed in 20 subjects with achondroplasia to document further the respiratory abnormalities present in this group. Somatosensory evoked potentials (SEPs) were recorded in 19 of the subjects to screen for the presence of brainstem abnormalities, which are one of the potential aetiological mechanisms. Fifteen children aged 1 to 14 years, and five young adults, aged 20 to 31 years were included. All had upper airway obstruction and 15 (75%) had a pathological apnoea index (greater than five per hour). Other sleep associated respiratory abnormalities, including partial obstruction, central apnoea, and abnormal electromyographic activity of accessory muscles of respiration, also showed a high prevalence. SEPs were abnormal in eight (42%), but there was no correlation between abnormal SEPs and apnoea during sleep, either qualitatively or quantitatively. A high prevalence of both sleep related respiratory abnormalities and abnormal SEPs in young subjects with achondroplasia was demonstrated. However, the sleep related respiratory abnormalities do not always result in significant blood gas disturbances or correlate with abnormal SEPs in this group.

Achondroplasia↗
PubMed1992

Liver transplantation and hepatitis viruses.

Considerations regarding liver transplantation in viral-hepatitis-related acute liver failure and end-stage chronic liver disease are discussed. Parameters of prognosis and indications for transplantation are presented. Differences according to the causative agent are noted, in particular regarding the danger of reinfection. The role of immunoprophylaxis is addressed as is the question of additional antiviral (interferon) treatment.

Chronic Disease↗
PubMed1992

An open, comparative trial of aztreonam with vancomycin and gentamicin with piperacillin in patients with fulminant hepatic failure.

Fifty patients admitted with fulminant hepatic failure and clinically suspected infection were allocated to receive either aztreonam and vancomycin or piperacillin and gentamicin as first line treatment. Fourteen patients died within 48 h of admission and were excluded from the analysis. Of the remaining 36 patients, 16 received aztreonam/vancomycin and 20 piperacillin/gentamicin. There were 18 episodes of infection in the aztreonam/vancomycin group and 24 in the piperacillin/gentamicin group (P = not significant). The most frequent bacterial pathogen was Staphylococcus aureus. Fungal infection developed in 13 patients (nine in the aztreonam/vancomycin group and four in the piperacillin/gentamicin group; P = not significant). Death attributed to infection occurred in 4 (25%) of 16 patients receiving aztreonam/vancomycin and 4 (20%) of 20 receiving piperacillin/gentamicin (P = not significant). Thirteen patients (three in the aztreonam/vancomycin group and ten in the piperacillin/gentamicin group) had clinical and microbiological improvement without addition or substitution of other antibiotics. No side-effects attributed to the study drugs were recorded.

Adolescent↗
PubMed1992

Further development and clinical application of the stereotactic operating microscope.

Implementation of a Vicom-VME image processing workstation for the frameless stereotactic operating microscope system has allowed an improved interpolation algorithm for more accurate reconstruction of three-dimensional data, the integration graphically of multimodality imaging information, an additional stereotactic graphics display outside of the microscope optics and optional three-dimensional displays through communication with a Convex mini-supercomputer. A precision-milled coupling for reproducible attachment of the spark gap bracket to the microscope has eliminated the need for that transformation calculation during each case. Clinical utility has been greatest in providing navigational guidance to small subcortical or deep lesions and in defining the extent of preoperatively planned resection of larger, infiltrating tumors. Mean accuracy in the past 17 cases has been 3.5-6.5 mm. The frameless methodology has also enabled extracranial stereotactic surgical procedures in 7 patients.

Brain Neoplasms↗
PubMed1992

[Abnormal expression of hepatitis B virus sequences integrated in human hepatocellular carcinomas].

Although epidemiologic studies have clearly demonstrated the importance of the hepatitis B virus in the genesis of hepatocellular carcinoma, the molecular basis for this tumorigenic effect is still under debate. The finding of hepatitis B virus DNA integration into human liver DNA in many cases of hepatocellular carcinoma suggested that these integrated viral sequences may be involved in liver carcinogenesis. In an attempt to clarify this point, we studied 9 tumors which developed in non cirrhotic livers. All tumors contained viral integrations (ranging from 1 to 6 different integrants) and 4 showed abnormal hepatitis B virus mRNA (2.3 to 7.5 kilobases long). The analysis of the corresponding cDNAs revealed the existence of hybrid transcripts containing both genomic and viral sequences. In 2 cases, the viral-host junctions were mapped within the cohesive-end region of the hepatitis B virus genome leading to the production of a transcript encoding a 3' truncated X protein. In another case, the cellular sequences present in the co-transcript were located in 5' with respect to the hepatitis B virus sequences. This observation strongly suggests that, in this patient, integration took place near a cellular gene. Further analysis of this integrant should help in identifying the putative gene and its application in the development of the tumor. We conclude that the study of abnormal hepatitis B virus transcripts in liver tumors provides a positive approach to study the direct role of HBV in carcinogenesis as an insertional mutagen.

Carcinoma, Hepatocellular↗
PubMed1991

Fungal infection: a common, unrecognised complication of acute liver failure.

The true incidence and clinical relevance of fungal infection was ascertained in a prospective study of 50 consecutive patients with acute liver failure. Fungal infection was present in 16 (32%) patients (15 candida, one aspergillus) and in seven was considered the major cause of death. All six untreated died, while five of ten patients treated with anti-fungal therapy survived. The diagnosis was made on positive cultures from at least one significant site or on histological evidence of tissue invasion. All 16 had concomitant bacterial infection and shared features suggestive of a clinical syndrome: deterioration in coma grade after initial improvement; pyrexia unresponsive to antibiotics; established renal failure; and a markedly elevated white cell count. Fungal infection is a common, serious complication of acute liver failure and therapy is indicated for those with positive cultures. A prophylactic trial would be justified in those surviving 5 days, especially, with established renal failure.

Acute Disease↗
PubMed1990

Prospective study of bacterial infection in acute liver failure: an analysis of fifty patients.

Fifty consecutive patients admitted with acute liver failure, minimal grade II encephalopathy, were studied prospectively to determine the incidence, timing and cause of bacterial infection, the relationship to clinical criteria for infection; and the influence of early microbiological diagnosis on clinical outcome. There were 53 proven bacterial infections in 40 patients, whereas in 5 of the remaining 10 patients infection was suspected on clinical grounds in the absence of significant cultures. Seven patients (14%) had more than one bacterial infection, and four patients had simultaneous infections caused by different organisms at each site. Fourteen infections (26.4%) were associated with bacteremia, and in six of these no source was found. Twenty-five infections (47.1%) arose from the respiratory tract, 12 (22.6%) from the urinary tract and 2 (3.7%) from central venous cannulas. Thirty-seven (69.8%) of the 53 infections were due to gram-positive bacteria; Staphylococcus aureus accounted for 19 (35.8%) of all the infections. Thirty patients died (60%), 28 of whom had bacterial infection at some time; in 24 of these the infection was diagnosed less than 24 hr before death. All nine deaths that occurred more than 7 days after admission were directly attributable to microbial infection. Clinical features such as elevated temperature and elevated peripheral white blood cell count were poor indicators of bacterial infection because these were absent in 30.2% of cases. These data show that there is a high incidence of bacterial infection early in the course of acute liver failure and suggest that prophylactic antimicrobial therapy, although unproven, might be justified.

Acute Disease↗
PubMed1990

Persistence of hepatitis A virus in fulminant hepatitis and after liver transplantation.

A peroxidase-labelled, specific mouse monoclonal antibody to hepatitis A virus (HAV) and an in situ hybridization technique (streptavidin-biotin-horseradish peroxidase reaction) with an HAV-specific cDNA probe (recombinant plasmid pAWHA comprising 1.8 kb of the HAV-specific cDNA, located toward the 3' end of the genome) were used to detect HAV in liver tissues in two patients with fulminant viral hepatitis type A treated by liver transplantation after a protracted (day 40: case 1) and relapsing (day 60: case 2) clinical course. HAV antigens and HAV-specific genomic sequences were detected in the hepatectomy tissues and in serial biopsies of the liver grafts through to final follow-up at 2 months (case 2) or death at 7 months after re-grafting for chronic rejection (case 1). In the fulminant liver parenchyma, numerous degenerating and some surviving hepatocytes were positive and randomly scattered. The immunoperoxidase staining was predominantly cytoplasmic and often granular. The localization of the cDNA probe was predominantly nuclear/perinuclear but was occasionally cytoplasmic. High-titre IgM-anti-HAV antibodies persisted until death (case 1) or resolution (5 months) of an acute hepatitis (case 2), which occurred at 2 months, accompanied by HAV antigen (ELISA), in stool. Intact replicating virus particles must have been present in one or more sites in each case, including extrahepatic locations, with a viraemia as the most likely explanation for subsequent reinfection of the grafts.

Adult↗