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Biomedical subjects

B Riley

Publications and source records attributed to B Riley.

At least 19 recordsLinked to original sources
PubMed1996

No evidence for linkage of chromosome 22 markers to schizophrenia in southern African Bantu-speaking families.

Previous studies have demonstrated possible linkage between chromosome 22 and one of the hypothesized schizophrenia susceptibility genes. Interpretation of these data, however, is not straightforward: although not significant at the level traditionally accepted to demonstrate linkage, reported lod scores were greater than should have occurred by chance for an unlinked marker based on simulation studies. Further, these studies used sample populations which were either of mixed nationality and ethnicity, or mixed ethnic ancestry from one country. We therefore tested for linkage between highly polymorphic chromosome 22 markers and schizophrenia in a sample of southern African Bantu-speaking black families, a population known to have diverged within the last 2,000 years. We also tested one candidate locus, the gene for the soluble form of catechol-O-methyl transferase (COMT) located at 22q11, which has been suggested as the cause of psychiatric symptoms observed in velo-cardio-facial syndrome (VCFS, including DiGeorge syndrome), and which is known to be functionally as well as genetically polymorphic. There is no evidence to support the linkage of markers on chromosome 22 to susceptibility to schizophrenia in this population, using either parametric or nonparametric analysis.

Catechol O-Methyltransferase↗
PubMed1996

An unusual case of Ecstasy poisoning.

We describe a case of poisoning with 3,4-methylenedioxymet-amphetamine Ecstasy that presented with all the features suggestive of a fatal outcome, including a creatinine phosphokinase level markedly higher than any previously reported. The patient, a paraplegic, was treated with dantrolene and made a full recovery.

Adult↗
PubMed1996

No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol O-methyltransferase activity.

OBJECTIVE: Catechol O-methyltransferase (COMT) inactivates catecholamines by methylating their m-hydroxy group. Some previous studies using biochemical methods have found higher levels of COMT activity in schizophrenic patients. Recently, the genetic polymorphism that underlies variation in COMT activity, which results in the creation of a NlaIII restriction site in the low-activity allele, has been elucidated. METHOD: This study investigated this polymorphism in 78 unrelated schizophrenic patients and 78 comparison subjects matched for age and ethnicity. High-molecular-weight DNA was isolated from lymphocytes with routine procedures, and each individual was typed for high and low COMT activity. RESULTS: The frequency of the NlaIII polymorphism was 0.51 in the schizophrenic patients and 0.53 in the comparison subjects, and no significant allelic or genotypic associations were observed. CONCLUSIONS: There was no evidence for variation in COMT activity between a group of schizophrenic patients and matched comparison subjects.

Alleles↗
PubMed1996

Battlefield trauma life support: its use in the resuscitation department of 32 Field Hospital during the Gulf War.

32 Field Hospital was one of two forward British field hospitals deployed during the 1990-1991 Gulf War in northern Saudi Arabia. We describe the use of Battlefield Trauma Life Support (BATLS), a military derivation of Advanced Trauma Life Support (ATLS) as used in the hospital's resuscitation department and discuss the application of ATLS principles in the military environment. Teaching BATLS to doctors, nurses, and combat medical technicians provided a common system for all department members to work toward. This proved to be an efficient system for horizontal casualty management by a trauma team of three people.

Hospitals, Military↗
PubMed1994

Role of FGFs in skeletal muscle and limb development.

Fibroblast growth factors (FGFs) are a family of nine proteins that bind to three distinct types of cell surface molecules: (i) FGF receptor tyrosine kinases (FGFR-1 through FGFR-4); (ii) a cysteine-rich FGF receptor (CFR); and (iii) heparan sulfate proteoglycans (HSPGs). Signaling by FGFs requires participation of at least two of these receptors: the FGFRs and HSPGs form a signaling complex. The length and sulfation pattern of the heparan sulfate chain determines both the activity of the signaling complex and, in part, the ligand specificity for FGFR-1. Thus, the heparan sulfate proteoglycans are likely to play an essential role in signaling. We have recently identified a role for FGF in limb bud development in vivo. In the chick limb bud, ectopic expression of the 18 kDa form of FGF-2 or FGF-2 fused to an artificial signal peptide at its amino terminus causes skeletal duplications. These data, and the observations that FGF-2 is localized to the subjacent mesoderm and the apical ectodermal ridge in the early developing limb, suggest that FGF-2 plays an important role in limb outgrowth. We propose that FGF-2 is an apical ectodermal ridge-derived factor that participates in limb outgrowth and patterning.

Animals↗
PubMed1993

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.

The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23-24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).

Chromosome Mapping↗
PubMed1993

Extra inspiratory work of breathing imposed by cricothyrotomy devices.

Using a lung model for spontaneous ventilation, we have assessed the additional work of inspiration imposed by a variety of cannulae ranging from the 12- and 14-gauge intravascular cannulae to the 8.0-mm i.d. adult tracheostomy tube. Work (W) ranged between 9 and 2262 mJ litre-1 and power (W) between 0.2 and 37.7 mW litre-1 min; the smallest values were obtained with the 8.0-mm i.d. adult tracheostomy tube and the 12- and 14-gauge intravascular cannulae gave the largest values. With any given cannula, W and W were influenced by ventilation (tidal volume and frequency) and ventilatory wave pattern of the analogue lung. The results obtained from the 12- and 14-gauge cannulae represent what is probably an excessive inspiratory workload, whereas the other four devices (Portex MiniTrach, 4.0, 6.0 and 8.0 tracheostomy tubes) may be suitable in the short term for relieving airway obstruction and compatible with spontaneous ventilation.

Cricoid Cartilage↗
PubMed1992

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Myotonic dystrophy (DM) is the most common form of adult muscular dystrophy, with a prevalence of 2-14 per 100,000 individuals. The disease is characterized by progressive muscle weakness and sustained muscle contraction, often with a wide range of accompanying symptoms. The age at onset and severity of the disease show extreme variation, both within and between families. Despite its clinical variability, this dominant condition segregates as a single locus at chromosome 19q13.3 in every population studied. It is flanked by the tightly linked genetic markers ERCC1 proximally and D19S51 distally; these define the DM critical region. We report the isolation of an expressed sequence from this region which detects a DNA fragment that is larger in affected individuals than in normal siblings or unaffected controls. The size of this fragment varies between affected siblings, and increases in size through generations in parallel with increasing severity of the disease. We postulate that this unstable DNA sequence is the molecular feature that underlies DM.

Chromosomes, Human, Pair 19↗
PubMed1992

Colloid solutions in the critically ill. A randomised comparison of albumin and polygeline. 1. Outcome and duration of stay in the intensive care unit.

All patients admitted to an Intensive Care Unit were randomised to receive all volume replacement fluid as either human albumin solution or a synthetic colloid. A total of 475 patients were admitted during the study period. Patients' age, sex, APACHE score and calculated risk of death were assessed on admission. Outcome was assessed as length of Intensive Care stay and mortality. There was no difference between the groups. Subgroups of patients with APACHE score greater than 10, calculated risk of death greater than 50% and length of stay greater than 5 days were also evaluated but not significant differences were found between treatment groups. The use of albumin rather than 3.5% polygeline for volume replacement in the Intensive Care Unit has no influence on outcome.

Adolescent↗
PubMed1992

Colloid solutions in the critically ill. A randomised comparison of albumin and polygeline 2. Serum albumin concentration and incidences of pulmonary oedema and acute renal failure.

All patients admitted to an Intensive Care Unit were assigned randomly to one of two groups, A and B. Group A received colloid volume replacement as 4.5% albumin whilst group B received a synthetic colloid, polygeline. This study describes the changes in serum albumin concentration in survivors and nonsurvivors in the two groups during their stay in the Intensive Care Unit. The incidences of renal failure and pulmonary oedema were also assessed. Serum albumin concentration decreased in all nonsurvivors. In survivors the serum albumin concentration decreased to a greater extent in the synthetic colloid group than in the albumin group. Despite the differences in serum albumin concentration there were no significant differences between the groups in the incidences of pulmonary oedema or renal failure.

Acute Kidney Injury↗
PubMed1991

Quality assessment in support services: do practitioners concur with expert consensus?

The purpose of this study was to examine the degree of concordance between experts and practitioners as to the importance of quality assessment measures (elements and indicators) in therapeutic recreation (TR) services. Results from a survey of TR practitioners as to actual uses of these quality assessment measures within Veterans Affairs Recreation Services nationwide were compared to expert opinions used in a previous study that identified quality assessment measures for TR. Agreement between expert ratings of importance and frequency of use by practitioners were greatest for the experts' most important elements and indicators and least for the least important. Findings suggest that a select few "important" elements and indicators might be universally required of all quality assessment programs; others might be optional or can be modified to meet the needs of individual settings. Results also demonstrate the need for further study of optimal quality assessment approaches using both expert knowledge and practitioner experience.

Ancillary Services, Hospital↗