The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II.

Adult-onset glycogen storage disease type II (GSD II) (McKusick 232300) is a progressive disabling myopathy. At present there is no treatment of proven clinical efficacy. Enzyme replacement therapy may in the future provide benefit but it will be costly and is not yet freely available. L-Alanine, a simple and relatively cheap therapy, has been shown to reduce protein degradation in GSD II patients but has not previously been assessed for clinical benefit in a controlled study. In this study L-alanine was assessed in a double blind, placebo-controlled, crossover n = 1 study. Assessments consisted of spirometry, cardiopulmonary exercise testing, quality of life measurements, biochemical markers and assessment by the criterion 4-component model of body composition. Alanine therapy was associated with a 15% gain in total body protein. However, the patient showed no functional improvement and reported feeling worse after treatment. Further controlled studies in a small group may be warranted, but not widespread use of this therapy.

Raised HDL cholesterol in Fabry disease: response to enzyme replacement therapy.

Fabry disease patients have increased risk of vascular disease despite cardioprotective increased HDL-cholesterol. Enzyme therapy does not significantly alter the lipid profile in the short term.

Adaptive design, female mate preferences, and shifts across the menstrual cycle.

This paper has two aims: first, to review work addressing the functional significance of variation in sexuality across the women's menstrual cycle and its implications for an understanding of human sexual nature; second, to illustrate the more general use of adaptationism in sex research. Adaptationism provides a method for recognizing adaptations, traits that evolved because they bestowed reproductive advantages upon their owners. The telltale sign of adaptation is its special design for a particular function. In recent years, evolutionary psychologists have explored changes in women's sexuality and standards of male attractiveness across the menstrual cycle. Evidence provisionally supports the idea that these changes constitute special design for the function of obtaining genetic benefits through mating with men other than primary partners.

Changes in orthodontic treatment patterns within one orthodontic practice over a 15 year period.

Fifty consecutive treatment case records were analysed for each of the years 1964, 1971, 1974, 1976 and 1978. The following variables were examined: sex distribution, age at start of treatment, extractions undertaken (if any), type of appliance used, completeness or incompleteness of treatment, treatment duration and one final category termed "other clinical procedures' dealing with cephalometry, photography and surgery. The sex distribution fluctuated only slightly with a predominance of females throughout. The age of onset of treatment was fairly constant at around 12 years. Over the 15 years a rise in number of non-extraction cases was noted and the number of patients treated by extraction only, fell. The use of fixed appliances increased steadily and in 1978 55 per cent of cases received some form of fixed appliance therapy. The mean number of incomplete cases was 17 per cent for all years with no rise latterly despite the use of more complex appliances. The treatment duration time showed a steady decrease over the 15 year period. Few referrals for oral surgery were made, although the use of precision following rotation correction has increased.

Treatment planning from study models: an examiner variability study.

Four orthodontists of comparable but differing experience examined fifty sets of study models obtained from a random sample of 12 year-old schoolgirls. On the basis of these study models only, assessments were made of need for treatment, for timing, length and complexity of treatment. The degrees of agreement have been analysed and discussed.