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Biomedical subjects

F Brett

Publications and source records attributed to F Brett.

17 recordsLinked to original sources
PubMed2003

The normal population distribution of PRNP codon 129 polymorphism.

OBJECTIVES: The common prion protein gene (PRNP) codon 129 polymorphism modifies the susceptibility to and the phenotype of prion diseases. However, no truly representative normal population-based data, or data stratified according to age or gender are available on the distribution of this polymorphism. MATERIAL AND METHODS: Allelic variation of codon 129 in three Finnish populations representing different age groups, and among Finnish, British and Irish blood donors were examined. RESULTS: The PRNP codon 129 genotype distribution in the total Finnish sample was 49% for methionine-methionine (MM), 42% for methionine-valine (MV) and 9% for valine-valine (VV), for the UK blood donors 42% for MM, 47% for MV and 11% for VV, and for the Irish blood donors 34% for MM, 56% for MV, and 10% for VV. CONCLUSIONS: The genotype frequencies were almost identical in all three Finnish populations of different ages, with no gender differences, and did not differ from corresponding figures for the Finnish blood donors. However, the PRNP codon 129 genotype distribution in Finland differed significantly from that of the British and the Irish blood donors and the previously published blood donor data on other Western Europeans and Americans.

Adolescent↗
PubMed2002

The Localio approach: a technical note for a large sacral chordoma.

Whenvever possible, radical resection of retrorectal tumours should be performed.(1) We describe the Localio technique (abdominosacral approach) in a case of a large malignant sacral chordoma. We emphasise the necessity to perform such an approach to achieve a radical resection for these tumours which have little chemosensitivity and minimal radiosensitivity. We highlight clinical features which suggest the presence of a spinal tumour and reiterate the absolute importance of rectal examination.

Chordoma↗
PubMed2000

Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.

BACKGROUND: Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder linked to chromosome 19q13 that is characterized by sudden onset of primarily bulbar and upper limb dystonia with parkinsonism. METHODS: The authors evaluated 12 individuals from three generations of an Irish family and obtained detailed medical records on a deceased member. The authors describe the clinical, psychiatric, and genetic features of the affected individuals. RESULTS: Five of eight affected members developed sudden-onset (several hours to days) dystonia with postural instability. Four of the five also had bulbar symptoms. Two have stable focal or segmental limb dystonia. One has intermittent hemidystonia with dysarthria that comes on abruptly in times of stress or anxiety. Three had a history of profound difficulty socializing, and at presentation two developed depression. Three patients had a trial of dopamine agonists without benefit. Genetic analysis suggests linkage to chromosome 19 with lod score of 2.1 at zero recombination. CONCLUSION: This is the third reported family with chromosome 19q13 rapid-onset dystonia-parkinsonism. Psychiatric morbidity appeared common in affected members of this family and may be part of the RDP phenotype.

Adolescent↗
PubMed2000

Spinal cord infarction and tetraplegia--rare complications of meningococcal meningitis.

A previously healthy 25-yr-old female developed flaccid areflexic tetraplegia, with intact cranial nerve function, 36 h after the diagnosis of bacterial meningitis. Polymerase chain reaction studies of cerebrospinal fluid and blood were positive for Neisseria meningitidis, serogroup B. Magnetic resonance of the cervicothoracic spine revealed increased signal intensity and expansion in the lower medulla, upper cervical cord and cerebellar tonsils. Neurosurgical consultation recommended hyperventilation, dexamethasone and regular mannitol therapy rather than decompressive intervention. The clinical course over the following 12 days was complicated by the development of progressive central nervous and multisystem organ failure with disseminated intravascular coagulopathy. Autopsy revealed cerebral oedema with cystic infarction extending from the medulla to the upper cervical cord and cerebellar tonsils. Flaccid areflexic tetraplegia with spinal cord infarction has not been reported following bacterial infection in an adult. The clinical implications would suggest complete central nervous system evaluation of patients recovering from meningococcal meningitis, since spinal cord lesions, although uncommon, do occur. In those very rare situations where a patient develops significant peripheral neurological deficits, urgent magnetic resonance imaging is warranted, to rule out an infective focus or an underlying anatomical anomaly.

Adult↗
PubMed1997

Inflammatory myopathy in thyrotoxicosis.

A 45-year-old man with a 3-month history of episodic muscle weakness, MRC grade 4/5 symmetric hip flexor weakness, elevated CK, and an inflammatory myopathy was found to have elevated free thyroxine and T3. Treatment with carbimazole resulted in complete resolution of symptoms and return of muscle power to normal. A repeat biopsy revealed resolution of the inflammatory endomysial infiltrate and an absence of necrosis. Complete clinical and pathologic resolution of a thyrotoxicosis-associated inflammatory myopathy without steroid therapy has not been previously described. The favorable outcome experienced by this patient indicates that steroids may not be necessary in thyrotoxicosis-associated inflammatory myopathy.

Antithyroid Agents↗
PubMed1996

The effects of particulate polyethylene at a weight-bearing bone-implant interface. A study in rats.

In ten male rats we inserted ceramic 'drawing-pin' implants in weight-bearing positions within the right proximal tibia. Two animals were killed 6 weeks after surgery and two more 14 weeks after surgery. The remaining six received intra-articular injections of either high-density polyethylene (4 rats) or saline (2 rats) at 8, 10 and 12 weeks after surgery. These animals were killed two weeks after the last injection. Histological examination of the bone-implant interface in the control animals showed appositional bone growth around the implant at both 6 and 14 weeks. Polyethylene, but not saline, caused a chronic inflammatory response with numerous foreign-body giant cells in periprosthetic tissues. Our model of a stable, weight-bearing bone-implant interface provides a simple and reliable system in which to study in vivo the effects of particulate materials used in orthopaedic surgery.

Animals↗
PubMed1993

Mesonephric adenocarcinoma of the uterine cervix with focal endocrine cell differentiation.

A case of cervical adenocarcinoma arising in diffuse mesonephric hyperplasia is presented. The hyperplastic and neoplastic tubules showed focal endocrine cell differentiation. Endocrine cells stained with the Grimelius technique, and were immunoreactive for chromogranin and serotonin. Antisera to additional specific hormones were negative. The natural history of this rare tumor is uncertain; the patient presented in this report is free of disease at 10-year follow-up.

Adult↗
PubMed1992

The distribution of immunoreactive interferon-gamma-containing cells in normal human tissues.

An immunohistochemical technique has been used to study the distribution of lymphocytes expressing interferon-gamma in normal adult tissues. The greatest concentrations of these cells were seen in mucosal sites exposed to a resident microflora. It is proposed that such organisms, by eliciting immune responses, provide the stimulus for the production of 'physiological' interferon-gamma. This in turn may act to preserve the 'tone' or readiness of the immune system.

Adult↗
PubMed1990

Primary hyperoxaluria--a case report.

A case of primary hyperoxaluria which presented with progressive renal failure in a 34 year old woman is reported. The patient died six years following the initial diagnosis and post mortem examination revealed widespread deposition of oxalate crystals in her tissues.

Adult↗
PubMedDate not supplied

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) in a Donegal kindred--clinical features and molecular genetic analysis.

A 19 year old female with a background history of migraine, sensorineural deafness and recent personality change developed a parieto-occipital cerebral infarct. Investigations revealed altered lactate to pyruvate ratios, ragged red fibres in muscle and an A-G point mutation at position 3243 in mitochondrial DNA. Subsequent clinical and molecular genetic analysis of 14 family members in three generations identified 12 affected individuals, two of whom were asymptomatic. Maternal inheritance was confirmed. MEALS is an important but under recognised cause of stroke and seizures in the young. There is insufficient data available to determine if the treatment of asymptomatic individuals retards the onset or reduces the severity of stroke.

Adult↗