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Biomedical subjects

P J Morrison

Publications and source records attributed to P J Morrison.

At least 19 recordsLinked to original sources
PubMed1997

Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation.

We report on a 3-year-old-girl with mosaic partial trisomy 17 due to an additional ring chromosome 17 in 13% of cells analysed. This was identified by fluorescence in situ hybridisation (FISH) using a whole chromosome 17 specific paint as well as probes specific for the Smith-Magenis and Miller-Dieker regions of chromosome 17p. This girl showed mild developmental delay with subtle facial and other minor abnormalities including single palmar creases, generalised joint laxity, and a scoliosis.

Charcot-Marie-Tooth Disease↗
PubMed1996

Unusual patellar tendon injury in an adolescent runner with generalised ligamentous laxity.

A case is reported of an acute traction injury of the patellar tendon in a boy of 14 with joint hypermobility. Such injuries are unusual but early diagnosis and surgical repair lead to a good long term outcome. In adolescents participating in sports, the awareness of the possibility of a rare knee extensor mechanism injury is essential for a successful outcome.

Adolescent↗
PubMed1996

Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset.

We describe a three generation family with Parkinson's disease showing autosomal dominant inheritance with extreme anticipation. Familial Parkinson's disease in three living generations is extremely rare, and anticipation is an unusual and interesting feature. Anticipation was shown in all generations and may have involved previous generations. Some cases of familial Parkinson's disease may therefore involve a trinucleotide repeat gene as part of the causal mechanism.

Age of Onset↗
PubMed1996

Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).

Multiple endocrine neoplasia type 2B (MEN 2B), or the mucosal neuroma syndrome, is an autosomal dominant hamartoneoplastic syndrome. Features include multiple mucosal neuromas, phaeochromocytoma, medullary thyroid carcinoma, and Marfanoid body habitus with a characteristic dysmorphic facies. The gene responsible is the receptor tyrosine kinase (RET) proto-oncogene on chromosome 10. The mutational spectrum of MEN 2B is remarkably narrow, with over 95% of cases being caused by a single methionine to threonine substitution in the intracellular tyrosine kinase domain. Recent biochemical evidence suggests that this mutation alters the substrate specificity of intracellular signal transduction.

Adrenal Gland Neoplasms↗
PubMed1996

Syringomas, natal teeth and oligodontia: a new ectodermal dysplasia?

A 26-year-old female is described with multiple facial syringomas, neonatal teeth and oligodontia. Her father has similar dental findings but no reliable evidence of syringomas. This combination of findings probably represents a new autosomal dominant ectodermal dysplasia with variable expression between the sexes.

Adult↗
PubMed1995

The epidemiology of Huntington's disease in Northern Ireland.

A survey of Huntington's disease (HD) in Northern Ireland, with a population of 1.5 million, has shown a 1991 prevalence rate of 6.4/100,000. Virtually complete ascertainment was achieved, enabling prevalence rate estimates and age statistics to be calculated over the last 20 years. The prevalence rate is similar to the high prevalence rates of HD found in most European populations, suggesting the presence of either one extremely ancient or a number of separate mutational origins, resulting in a uniform European HD prevalence. The ages at diagnosis and duration of the disease are similar to previous studies, suggesting a consistent effect of the HD gene in all families. Estimates of heterozygote frequency (HF), direct and indirect mutation rate, fertility, and genetic fitness (W) were made. Reliable HF estimates gave values between 10 and 11 x 10(-5). The direct and indirect mutation rates were 0.32 x 10(-6) and 1.05 x 10(-6) respectively. W was increased in the affected HD population but decreased in the at risk population. Fertility in HD is not reduced, but it appears that at risk patients have actively limited their family size. Factors responsible include, among others, the fear of developing HD and genetic counselling of families. This is the first published epidemiological survey to include ascertainment data in a population both before and after isolation of the HD gene, and with the diagnosis in virtually all patients confirmed by DNA mutation testing.

Adolescent↗
PubMed1994

Serum iron, total iron binding capacity and ferritin in early Huntington disease patients.

Serum iron, total iron binding capacity and ferritin was estimated in 42 patients with early Huntington disease (HD) and in 148 matched controls. Ferritin levels were significantly low in affected male subjects as compared to controls. Iron levels and total iron binding capacity were normal in HD patients. The importance of this finding, that occurs early in the pathogenesis of HD, is unknown.

Adolescent↗
PubMed1993

Pharmacokinetics of rufloxacin in patients with impaired renal function.

The pharmacokinetics of rufloxacin were investigated in normal subjects and in patients with various degrees of renal failure after the administration of a single oral 400-mg dose. Twenty-four subjects were classified by glomerular filtration rate (GFR) normalized for body surface area. Group 1 subjects had GFRs of > 80 ml/min, group 2 subjects had GFRs from 30 to 80 ml/min, group 3 subjects had GFRs from 8 to 29 ml/min, and group 4 subjects had GFRs of < 8 ml/min. The patients in group 4 were on continuous peritoneal dialysis or underwent hemodialysis 48 h after dosing. Plasma and urinary rufloxacin concentrations were determined by high-performance liquid chromatography. A two-compartment model was used to calculate rufloxacin pharmacokinetic parameters. Apparent total body clearance of the drug was linearly related to GFR (r = 0.696; P < 0.01). The elimination half-life increased proportionally with the severity of renal impairment, with values of 30 +/- 3, 36 +/- 5, and 44 +/- 3 h in groups 1, 2, and 3, respectively. In patients with moderate renal failure, dosage adjustment of rufloxacin is not needed. The rufloxacin dose interval should be prolonged to 48 h as the GFR falls below 30 ml/min/1.73 m2.

Adult↗
PubMed1993

Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by the onset of non-progressive chorea in childhood and the absence of cognitive impairment. Using primers flanking the (CAG)n repeat in IT15, expansion of which is associated with HD, we have detected an abnormal PCR product in four affected members from one family where affected subjects were originally reported to have BHC. The expanded allele contains 38 repeats in the affected parent and this undergoes further enlargement to 39 and 45 repeats in the two affected offspring. We conclude that the diagnostic criteria for BHC should include a normal result from analysis for the (CAG)n expansion identified in HD.

Adult↗
PubMed1993

Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland.

An analysis of the Northern Ireland Huntington's disease (HD) population of 75 families showed significant linkage disequilibrium between the HD gene and DNA markers at D4S95, D4S10, and D4S111. As the linkage disequilibrium at loci D4S10 and D4S111 is different from previous studies in the UK, but similar at locus D4S95, this suggests either that the HD mutation(s) in the Northern Ireland and British populations is not of common origin or that the haplotype of the common HD mutation has changed over time subsequent to divergence from a common origin.

Alleles↗