The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers

We present a simple, fast, non-radioactive method for the analysis of the polymorphic short tandem repeat (STR) system in the human phenylalanine hydroxylase gene. Previously, sizing of the STR marker involved radiolabelling of PCR amplified fragments and resolution on denaturing polyacrylamide gels using M13 sequencing ladder as a standard. However, this method consistently gave sizes 2 bp longer than the known sequence. The fluorescent method presented here employs internal lane standards and enables accurate sizing of the fragments. To avoid confusion, we suggest that the true fragment lengths are used as reference values in the future. The analysis of STR alleles is valuable for population genetic studies and for targeted mutation screening in phenylketonuria (PKU). It can replace RFLP-based haplotype analysis for carrier detection, and we report its use for prenatal diagnosis in a Northern Irish family with PKU. The analysis of 250 Northern Irish chromosomes, including 128 PKU alleles, showed no significant difference between normal and PKU alleles, with fragment lengths of 238 and 242 bp most common in both groups.     

Twins with moyamoya disease

Moyamoya disease is a progressive disease which involves the internal carotid arteries and its branches bilaterally. The disease is reported both in adults and in children. Moyamoya disease is frequently seen in Japanese patients having certain human leucocyte antigen (HLA) haplotypes including HLA-Aw24, Bw46 and Bw54. Twin cases are rarely reported in the literature. We hereby present the first Turkish monozygotic twins with moyamoya disease whose HLA haplotypes are A2, A9, B21, Bw22, Bw4, Bw6, Cw3, and DR2, DR4, DRw52, DRw53, Dq7. The patients with advanced disease were given nifedipine and intravenous immunoglobulin (400mg/kg/d for 5 days). During the 11 months of follow-up, the patients were attack free.     

Vascular access for haemodialysis with autogenous vein graft arteriovenous fistulas.

Nine autogenous vein grafts (AVG) have been used in nine patients to create arteriovenous fistulae for haemodialysis. All the patients lacked vessels for construction of a regular arteriovenous fistula. Three of the AVG failed during dialysis treatment 3, 10 and 14 months respectively following construction. Another AVG thrombosed but function was restored by thromboectomy. The same graft was later complicated by a false aneurysm and rupture but was then reconstructed with a vein patch. One AVG with a false aneurysm in the proximal anastomosis was repaired within six weeks.     

Experience with arteriovenous fistulas CIMINO in chronic hemodialysis. A report on forty-five patients.

Experiences with 45 uremic patients with arteriovenous fistulas for dialysis are described. The operation is easy and successful if the vessels of the patient are intact. Varicose syndromes of the hand may occur but can be managed. Complications from cannulations, such as large hematomas, are rare but may obstruct otherwise good fistulas. The fistula should be constructed in good time before a definite need for dialysis arises.     

Postural stability using different neck positions in normal subjects and patients with neck trauma

Subjects with neck problems, such as whiplash injuries, often complain of disturbed equilibrium and, in some instances, provocation of the neck position can elicit such problems. The importance of neck proprioceptors for maintaining balance is gaining increased interest, moreover the function or malfunction of the otoliths may disturb equilibrium in certain head positions. The aim of the study was to create a reference material for postural control and its dependence on head position in healthy subjects and to compare this with a set of patients with known neck problems and associated vertiginous problems. A total of 32 healthy subjects (16 men, 16 women, age range 21-58 years) as well as 10 patients age range 27-62 years (mean 44 years) with neck problems and associated balance problems since a whiplash injury were tested for postural control using the EquiTest dynamic posturographic model. The normal subjects were initially split into four age groups in order to estimate the effects of age on performance. The postural stability was evaluated for dependence of support surface conditions (stable or sway-referenced), visual input (eyes open or closed) and head position (neutral, left rotated, right rotated, extended backwards or flexed forward) using analysis of variance (ANOVA) with Tukey's post hoc test in case of a significant factor effect. As expected, visual cues as well as stable support surface improve postural stability (p < 0.001). Postural stability is statistically different in the head extended backwards condition compared with the other four head positions (p < 0.001 in all cases) in both patients and controls. Eliminating this test condition from the analysis, only a slight (p < 0.05) difference between head forwards and head turned left remained. This pattern of results remained if the normal subjects were only split into two age groups instead of four. Finally, the patient group exhibited significantly lower postural performance than all the groups of normal subjects (p <0.01), but none of the normal groups differed significantly from each other. It is concluded that the postural control system is significantly challenged in the head extended backwards condition in both normal subjects and patients with previous whiplash injury and persistent neck problems. The patient group differed statistically from all groups of normal subjects. This suggests that neck problems impair postural control, and that the head extended position is a more challenging task for the postural system to adapt to. Whether this is due to utricular malpositioning, central integrative functions or cervical proprioceptive afferents is not within the scope of this study to answer.     

Attitudes to job turnover among Finnish anaesthetists

Background Structural changes have led to higher workload andmore frequent conflicts among hospital staff, which in turnhas been shown to be associated with increased employee turnover. Aims To study the willingness of anaesthetists to change theiremployment and factors associated with it. Work-related, individualand family-related factors were investigated as potential influenceson such willingness. Method A postal questionnaire was sent to all working Finnishanaesthetists (N = 550). Results The response rate was 60%; 175 (53% of responders) weremen. Of the respondents, 31% were willing to consider changingto another physician's job and 43% to a profession other thanmedicine. The most important correlates for these views wereconflicts with superiors (odds ratio 6.1; 95% confidence interval2.1–17.7) and co-workers (4.2; 1.4–12.2), low jobcontrol (2.6; 1.4–4.9), a sense of organizational injustice(2.4; 1.3–4.6), stress (6.5; 2.6–16.3) and job dissatisfaction(4.6; 2.4–8.8). Conclusions The establishment of respect, trust and genuinedialogue between co-workers and superiors is needed to minimizethe risk of loss of members of this occupational group.     

Three factor eating questionnaire-R18 as a measure of cognitive restraint, uncontrolled eating and emotional eating in a sample of young Finnish females

Background  

The aim of the study was to examine the construct validity of the Three-Factor Eating Questionnaire -R18 (TFEQ-R18), a measure of eating behaviour, and to evaluate cognitive restraint, uncontrolled eating and emotional eating in a sample of adolescent and young adult females of different weights.     

Early life and later determinants of adult disease: a 50 year follow-up study of the Newcastle Thousand Families cohort

The relative contribution of socioeconomic, behavioural and biological factors operating in fetal and infant life, childhood and adulthood to risk for cardiovascular disease, respiratory diseases and non-insulin-dependent diabetes in middle age has become an important research issue. All 1142 babies born in Newcastle upon Tyne in May and June 1947 were recruited into a prospective cohort study of child health (the ‘Thousand Families’ study) and followed in great detail to the age of 15 y, with a brief further follow up at age 22 y. Children from poorer families were at greatest risk of severe respiratory tract infection in infancy. Children from professional and managerial families were on average taller and heavier throughout childhood than those from semi- and unskilled manual social classes. Repeated infections in early childhood greatly increased the risk of developing chronic respiratory disease by age 15 y. This paper outlines a new investigation designed to trace surviving members of this cohort and to chart the relationships between their socioeconomic circumstances, lifestyles, experiences and health from birth through to the present day. Existing data on socioeconomic circumstances and infections in infancy and childhood, infant nutrition, birthweight and physical development to age 22 y will be linked to information gained from a new study. This comprises a postal questionnaire survey of study members' adult health, socioeconomic circumstances and lifestyle, and a hospital based clinical examination including heart and lung function, glucose tolerance, blood lipids and anthropometric measurements at age 49–51 y. Out of a target sample of 979 people for whom sufficient data are available on the first year of life, 866 (88%) have been traced and 649 are still resident in the North of England. Those study members who have been traced are highly representative of the original cohort. The Thousand Families cohort provides a unique opportunity for detailed epidemiological study because of the wealth of data available on infant and childhood socioeconomic and family circumstances, all of which was collected prospectively. In addition, there has been comparatively little loss to follow-up since 1948.