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Biomedical subjects

B Kerr

Publications and source records attributed to B Kerr.

At least 19 recordsLinked to original sources
PubMed1997

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

We describe nine children with a similar pattern of features including macrocephaly and cutis marmorata telangiectatica congenita. All were large at birth and had a distinctive capillary haemangioma involving the philtrum and upper lip. The seven who survived all developed hydrocephalus and had developmental delay. Six developed body asymmetry and three had internal arteriovenous malformations. Syndactyly of the second and third toes and/or the third and fourth fingers or toes was commonly seen. All of the cases were sporadic. This condition is easily recognizable and should be considered in the differential diagnosis of patients presenting with overgrowth and macrocephaly.

Abnormalities, Multiple↗
PubMed1996

Failure of implementation of the National Heart Foundation of New Zealand guidelines for the management of dyslipidaemia.

AIMS: We examined the outcome of patients at high absolute risk of coronary events who had been discharged from the Green Lane Hospital risk factor clinic before publication of the 1993 National Heart Foundation of New Zealand (NHF) guidelines for management of dyslipidaemia. METHODS: Consecutive patients who had been discharged >12 months previously were followed up by general practitioner and patient questionnaires. Patients were categorised according to risk of a coronary event over 10 years. Ideal lipid levels (cholesterol <5.2 mmol/L, high-density lipoprotein (HDL) cholesterol >1 mmol/L, total:HDL cholesterol ratio <5) and 'acceptable' lipid levels (cholesterol <6.5 mmol/L for high risk, <7.5 for moderate risk, <8 in men and <8.5 in women at mild or low risk) were defined according to the NHF guidelines. RESULTS: Of the 270 patients, 55.6% were at very high risk, 25.5% at high risk, 10.4% at moderate risk, 3.8% at mild risk and 0.7% at low risk. Twenty-four percent of patients were managed on diet alone at clinic discharge and 18% at follow up of 32+/-12 months. Total cholesterol (6.39 mmol/L), HDL cholesterol (1.22 mmol/L) and the total:HDL cholesterol ratio (5.71) were unchanged from discharge. In the very high risk group ideal lipid levels were achieved in only 12% at discharge and 7% at follow up. The corresponding figures for achievement of acceptable lipids at discharge compared with follow up were 48% and 39% for the high risk group, 88% and 79% for the moderate risk group and 93% and 93% for the mild risk group. The corresponding figures for achievement of ideal lipids were 4% and 8% for the high risk group, 0% and 5% for the moderate risk group and 7% and 7% for the mild risk group. CONCLUSIONS: Lipid levels achieved during clinic visits were maintained long term, but there were no improvements following publication of the NHF guidelines. Continued efforts are needed to increase awareness and implementation of the guidelines, particularly in patients at high risk. Removal of the restrictions on prescription of lipid modifying agents by general practitioners and improved interchange between general practitioners and specialists should greatly improve these outcomes.

Family Practice↗
PubMed1996

Delayed nociceptive response following cold-water swim in the formalin test: possible mechanisms of action.

Exposure of animals to aversive events produces stress-induced analgesia. A common method of producing stress in animals is the cold-water swim (CWS). The present series of experiments examines the effect of CWS on tonic pain, as measured by the formalin test, and explores possible mechanisms of action. Experiment 1 demonstrates that a 3.5-min swim in 2 degrees C water produces a delayed nociceptive response (DNR), characterized by a prolonged period of no formalin responding which then begins and continues during the time when control animals, which have not received the CWS, are finished responding. The delayed response begins at 50-60 min postformalin injection, peaks at 80 min, and is still present at 120 min. Experiment 2 indicates that paw temperature effects are not responsible for the DNR, although core body temperature effects are a possible mechanism. However, systematic delays in the formalin injection following the CWS (Experiment 3) drastically altered the DNR even though core body temperature remained unchanged, suggesting that a decrease of core body temperature is insufficient to account for the DNR. Experiment 4 demonstrates that the NMDA antagonist MK-801 administered prior to the CWS dramatically reduces the DNR. The present experiment is the first study that reports a delay as long as 60 min in pain responding. It is concluded that the delayed response to formalin injection is the result of complex interactions involving peripheral mechanisms and central neuronal plasticity in which activity initiated by a noxious input persists after the cessation of the input as a consequence of a stressful event such as the cold-water swim.

Animals↗
PubMed1996

Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

Rothmund-Thomson syndrome is a rare, autosomal recessive disorder associated with characteristic cutaneous changes, sparse hair, juvenile cataracts, short stature, skeletal defects, dystrophic teeth and nails, and hypogonadism. Mental retardation is unusual. An increased incidence of certain malignancies has been reported. Clonal or mosaic chromosome abnormalities and abnormalities in DNA repair mechanisms have been reported in some cases. We report two cases of Rothmund-Thomson syndrome, both with intellectual handicap, associated in one with a previously undescribed histological appearance of involved skin, suggesting that the spectrum of abnormalities is even more heterogeneous than previously presumed. Both cases exhibited chromosomal radiosensitivity of lymphocytes which may be an indication of a DNA repair defect. This is the first report of an association between Rothmund-Thomson syndrome and unique, intrinsic, age related skin changes.

Adolescent↗
PubMed1994

Pericentromeric genes for non-specific X-linked mental retardation (MRX).

Extensive linkage analyses in three families with non-specific X-linked mental retardation (MRX) have localized the gene in each family to the pericentromeric region of the chromosome. The MRX17 gene is localized with a peak lod of 2.41 (theta = 0.0) with the trinucleotide repeat polymorphism at the androgen receptor (AR) gene locus. This gene lies in the interval between the markers DXS255 and DXS990, as defined by recombinants. The MRX18 gene maps to the interval between the markers DXS538 and DXS1126, with a peak lod score of 2.01 (theta = 0.0) at the PFC gene locus. In the third family (Family E) with insufficient informative meioses for assignment of an MRX acronym, the maximum lod score is 1.8 at a recombination fraction of zero for several marker loci between DXS207 and DXS426. Exclusions from the regions of marker loci spanning Xq support the localization of the MRX gene in Family E to the pericentromeric region. Localizations of these and other MRX genes have determined that MRX2 and MRX19 map to distal Xp, MRX3, and MRX6 map to distal Xq, whilst the majority cluster in the pericentromeric region. In addition, we confirm that there are at least two distinct MRX genes near the centromere as delineated by the non-overlapping regional localizations of MRX17 and MRX18. Determination of these non-overlapping localizations is currently the only means of classifying non-syndromal forms of mental retardation and determining the minimum number of MRX loci.

Adolescent↗
PubMed1994

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. Hb H inclusions were present but rare in this family. The sole genital anomaly was deficiency of the foreskin, a feature not previously described in ATR-X.

Abnormalities, Multiple↗
PubMed1993

Mechanical inventiveness: a three-phase study.

This paper focuses on mechanical inventiveness, the conception and development of new devices which require use of mechanical principles. In Phase 1 of the three-phase investigation, we studied 34 inventors who received between three and 82 agricultural and industrial patents. These inventors formed the original criterion group of mechanical inventors. Phase 2 of the investigation was the development of an inventiveness measure. From the criterion group of adult mechanical inventors, the Iowa Inventiveness Inventory (III) was developed to measure attitudes and characteristics of inventors. Subjects for Phase 3 of the study were 90 young inventors (40 males, 50 females), students (grades five to eight) who won local and regional invention contests and reached the state convention of Invent Iowa. In Phase 3, Invent Iowa state finalists in grades five to eight (n = 90) were administered the III and the Mechanical Reasoning test of the Differential Aptitude Tests. Characteristics of the young inventors, as delineated by these assessments, are provided.

Adolescent↗
PubMed1992

Contribution of a risk factor clinic to lipid management in patients with coronary artery disease.

The progress of a cohort of 145 patients seen between June 1986 and June 1989 was reviewed. These patients had treatment prescribed by the clinic and had data recorded over serial visits; they allowed us to determine the contribution of the risk factor clinic. Eighty-six percent had coronary artery disease. Patients were given nutritional advice, partly in groups. In addition 61% were treated with drug therapy. Seventy-four percent had modified their diet before the clinic visit but only 32% received less than 30% of energy from fat; the number rose to 67% by discharge. Sixty-four percent had a body mass index of 25 or greater, falling to 53% at discharge. Mean total cholesterol of the 145 patients was 7.9, HDL cholesterol 1.06, and total:HDL cholesterol ratio 7.7 mmol/L. Changes with clinic management were: total cholesterol -19%, HDL cholesterol +11%, total:HDL cholesterol ratio -25%, LDL cholesterol -21%. Despite these changes, levels were less than optimal for patients with coronary arterial disease in at least 50% of patients at the time of discharge. Improved results can be achieved only with a more aggressive approach to drug therapy. Recent studies in patients with coronary disease provide strong support for such a change in management.

Body Mass Index↗
PubMed1992

Letter matching: effects of age, Alzheimer's disease, and major depression.

We compared Alzheimer's disease (AD) patients and Major Depressive Disorder (MDD), Aged normal, and Young normal controls on a letter-matching task designed to measure the time needed to access overlearned linguistic information in long-term memory. Name identity (NI) and physical identity (PI) reaction time and the NI-PI difference were compared for ADs, MDDs, and Aged normals and separately for Aged and Young normal groups. AD subjects had slower NI and PI reaction times and a bigger NI-PI difference than Aged normal and MDD subjects, suggesting that speed of access to overlearned letter-name information in long-term memory is slowed for ADs. There were no reliable differences between Aged normal and MDD subjects. Aged normals had slower NI and PI reaction times and a bigger NI-PI difference than Young normals, suggesting that the highly practiced operations needed to access letter-name information slow with age. A discriminant analysis was used to evaluate the usefulness of the "easy to perform" letter-matching task for diagnostic purposes. Ninety percent of normal and MDD subjects but only 68% of AD subjects were classified correctly.

Adult↗
PubMed1991

Smith-Fineman-Myers syndrome in two brothers.

We report on 2 brothers with a distinctive facial appearance, severe mental retardation, short stature, cryptorchidism, asplenia in one, dramatic failure to thrive, early hypotonia, and later hypertonia all suggestive of the Smith-Fineman-Myers syndrome. All 5 of the reported cases have been males, suggesting X-linked inheritance.

Abnormalities, Multiple↗
PubMed1991

Localisation of the MRX3 gene for non-specific X linked mental retardation.

A family is described with five affected males segregating a new gene for non-specific X linked mental retardation (MRX). Linkage analysis localised the gene at Xq28-qter. The maximum lod score was 2.89 with DXS52 (St14) at theta = 0.0. A recombinant was observed with DXS304 (U6.2) defining the proximal limit to the localisation. No evidence for linkage was determined using markers at several points along the remainder of the X chromosome, including the regions known to contain MRX1 and MRX2. This delineates the third gene for non-specific X linked mental retardation, MRX3.

Adult↗
PubMed1991

Non-specific X linked mental retardation.

Non-specific X linked mental retardation (MRX) is mental retardation in persons of normal physical appearance who have no recognisable features apart from a characteristic pedigree. Review of published reports shows that there is clinical variability in the degree of mental retardation within families and genetic heterogeneity, based on gene localisation, between families. We propose a classification based on genetic localisation and a set of minimal clinical features that should be recorded in the hope of identifying possible specific phenotypes.

Genetic Linkage↗
PubMed1991

Concentration-related effects of morphine on cognition and motor control in human subjects.

Morphine and other opioid analgesics may interfere with normal cognition and motor function when the drugs are used for long-term treatment of pain. We used individually tailored steady-state drug infusions to identify the nature and extent of cognitive and motor effects of the mu-receptor-selective opioid morphine in healthy volunteers. The tailored infusions allowed evaluation of cognitive and motor effects at three sequential, constant plasma concentrations of morphine in each subject. Compared with functional assessments obtained in a separate saline infusion day, infusions of morphine to plasma concentrations in the usual therapeutic range for analgesia caused significant impairments of some but not all elements of cognitive and motor function. The time needed to encode and process serially presented verbal information increased and the ability to maintain low consistent levels of force decreased during the morphine infusion. We also assessed verbal recall 3 hours after the morphine and saline infusions. Delayed recall of information presented during the morphine infusion was significantly impaired. Our results demonstrate that morphine can interfere with cognitive and motor performance at plasma drug concentrations within the usual therapeutic range.

Adult↗
PubMed1990

The impact of medication resistance and continuation pharmacotherapy on relapse following response to electroconvulsive therapy in major depression.

After clinical response to electroconvulsive therapy (ECT), 58 patients with major depressive disorder were followed for 1 year or until relapse. The rate of relapse was substantially higher in patients who had failed adequate antidepressant medication trials prior to ECT than in patients not determined to be medication resistant. Adequacy of post-ECT pharmacotherapy was only marginally related to likelihood of relapse. The subgroup of patients who appeared to benefit from adequate post-ECT pharmacotherapy were those who did not receive an adequate medication trial prior to ECT. The findings call into question the common practice of administering as continuation pharmacotherapy following ECT the same class of medications that patients had failed with during the acute episode prior to ECT. The findings also indicate that resistance to antidepressant medication is a strong predictor of relapse following response to ECT.

Aged↗