The impact of galactosaemia on quality of life—A pilot study

Galactosaemia (galactose-1-phosphate uridyltransferase deficiency) is a pan-ethnic autosomal recessive disorder of galactose metabolism, with an estimated prevalence of 1 in 40-50000. In this pilot study, we aimed to examine the impact of galactosaemia on patients' everyday emotions, schooling, work, friendships, communication, physical activities, self-esteem and body image. We interviewed all patients with galactosaemia who attended our clinic over 2002-2003, aged 6 years and above (n = 13, age range 6-23 years) and, when possible, their parents (n = 12). The questionnaire used was based on an adaptation of the Minneapolis-Manchester QOL survey and the Australian Child Health Questionnaire. Interpersonal problems, bullying and having a hard time getting along with others, excessive anger on a regular basis, sleeping problems and problems with academic achievement, particularly with mathematics, were common. Significant differences were found between patients' and parents' perceptions, with 7/13 patients nominating the dietary restrictions and 4/7 parents nominating long-term issues as the most distressing aspect of having galactosaemia. In addition, most patients felt they were treated differently from their siblings by their parents, yet all parents felt they treated their child with galactosaemia as their other children. We conclude that galactosaemia has a significant impact on the psychosocial aspects of patients' lives. Clinicians should be aware that parents and patients can have different perspectives of the impact of galactosaemia on quality of life.     

Home, training and work: mobility of British doctors

This study examines the locations of family homes, medical schools and places of specialist training, and work of doctors qualifying from UK medical schools in 5 calendar years between 1974 and 1993. The contribution of each UK region to the medical workforce relative to its population is assessed and trends over time are examined. The relationship between place of family home and medical school attended is examined for 14,108 doctors. Career appointment location and its relationship to medical school and family home loc‐ation are examined for over 4000 doctors. For the qualifiers of 1983, an additional analysis incorporating place of training is included. Large differences were found in the percentage of medical students from local family homes attending each regional medical school. In some cases differences reflected local populations but other cases had no obvious cause. Over all cohorts studied, 38% of respondents attended a medical school in the region of their family home (32% of 1993 qualifiers), 42% held a career post in the same region as their medical school, and 38% held a career post in the same region as their family home. Among the qualifiers of 1983, 65% had a career post in the same region as their postgraduate training, 34% also attended medical school in the same region, and 19% also came from family homes in the same region. More women than men took up a career post in the same region as their postgraduate training. The relationships to family home and medical school did not differ by gender. Consultants appeared slightly less likely than GPs to have stayed within a region, but this difference was not statistically significant.     

Site selection for fat autotransplantation: Some observations

The use of autologous fat for implantation has recently received renewed attention in the plastic surgery literature. Autologous fat reportedly has been used for the treatment of wrinkles and Romberg's disease, and for buttock and breast augmentation. While some measure of success has been achieved, many surgeons report that substantial resorption of fat tissue occurs at the site of implantation. There is lack of unanimity regarding the ideal site for extraction or injection in order to minimize fat resorption. Adipose tissue samples were taken from women undergoing surgical procedures on the abdomen, gluteal-femoral region, and breast. Facial adipose tissue samples from men and women were also analyzed. Adipocytes were isolated chemically and sized microscopically. Activity of the lipogenic enzyme adipose tissue lipoprotein lipase (ATLPL) was measured in frozen samples. Results suggest that femoral site samples are somewhat larger (NS) and have greater lipogenic activity (p<0.03) than other sites. In our study, small facial samples had very low or unmeasurable levels of ATLPL activity. Perhaps cell size and lipogenic activity should be considered when selecting tissues for autotransplantation.     

Angioid streaks associated with abetalipoproteinemia

Angioid streaks were observed in a 31-year-old man with abetalipoproteinemia. Angioid streaks have now been described in hereditary spherocytosis, beta thalassemia, alpha thalassemia, sickle cell anemia, and acanthocytosis secondary to abetalipoproteinemia and hypobetalipoproteinemia. The nature of the association of angioid streaks and structural defects of hemoglobin and the red blood cell is not understood.     

Synthesis and antiviral activity of phosphonoacetic and phosphonoformic acid esters of 5-bromo-2'-deoxyuridine and related pyrimidine nucleosides and acyclonucleosides

Phosphonoacetic acid (PAA, 1) was coupled with various acyclonucleosides, 2'-deoxyuridines, cytidines, and arabinosyluracils, with 2,4,6-triisopropylbenzenesulfonyl chloride (TPS) or dicyclohexylcarbodiimide (DCCI) as condensing agents, to give a range of phosphonate esters. The carboxylic ester linkage of PAA to the 5'-position of 5-bromo-2'-deoxyuridine (BUdR, 3) was achieved via the mixed anhydride formed from (diethylphosphono)acetic acid and trifluoroacetic anhydride. Phosphonoformic acid (PFA, 2) was coupled with BUdR by using the DCCI method to give the phosphonate ester. Of these compounds only phosphonate esters in the 2'-deoxyuridine series showed significant activity against herpes simplex virus types 1 and 2. The BUdR-PAA derivative and the BUdR-PFA derivative were highly active, especially the latter, which was more active than the parent nucleoside BUdR against the type 2 virus. The active compounds may exert their effects by extracellular or intracellular hydrolysis to the corresponding antiviral agents, but an intrinsic component of antiviral activity may also be involved.     

The ora serrata and the spiral of Tillaux. Anatomic relationship and clinical correlation

Conventional teaching states that the spiral of Tillaux marks the location of the ora serrata. On literature review, no source for this was found. This study explores this anatomic relationship. In 20 cadaver eyes, narrow-gauge needles were placed penetrating the center of each rectus muscle insertion, and distance to the ora was measured. Insertions ranged from 2.25 mm posterior to 2.25 mm anterior to the ora, with 90% within 1 mm of it. In ten eyes, distance from the edge of insertion also was measured. Results indicate that the centers of rectus insertions, especially the lateral rectus, approximately overlie the ora, with the edges of the insertions more posterior and variable.