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Biomedical subjects

Mark P J Vanderpump

Publications and source records attributed to Mark P J Vanderpump.

3 recordsLinked to original sources

Thyroid hormone resistance.

Resistance to thyroid hormone (RTH) is a rare autosomal dominant inherited syndrome of reduced end-organ responsiveness to thyroid hormone. Patients with RTH have elevated serum free thyroxine (FT4) and free triiodothyronine (FT3) concentrations and normal or slightly elevated serum thyroid stimulating hormone (TSH) level. Despite a variable clinical presentation, the common characteristic clinical features are goitre but an absence of the usual symptoms and metabolic consequences of thyroid hormone excess. Patients with RTH can be classified on clinical grounds alone into either generalized resistance (GRTH), pituitary resistance (PRTH) or combined. Mutations in the thyroid hormone receptor (TR) beta gene are responsible for RTH and 122 different mutations have now been identified belonging to 300 families. With the exception of one family found to have complete deletion of the TRbeta gene, all others have been demonstrated to have minor alterations at the DNA level. The differential diagnosis includes a TSH-secreting pituitary adenoma and the presence of endogenous antibodies directed against thyroxine (T4) and triiodothyronine (T3). Failure to differentiate RTH from primary thyrotoxicosis has resulted in the inappropriate treatment of nearly one-third of patients. Although occasionally desirable, no specific treatment is available for RTH; however, the diagnosis allows appropriate genetic counselling.

Humans↗

Epidemiology and prevention of clinical and subclinical hypothyroidism.

Iodine deficiency is the most common cause of hypothyroidism worldwide. In persons living in iodine-replete areas, causes are congenital, spontaneous because of chronic autoimmune disease (atrophic autoimmune thyroiditis or goitrous autoimmune thyroiditis [Hashimoto's thyroiditis]), or iatrogenic because of goitrogens, drugs, or destructive treatment for thyrotoxicosis. Screening for congenital hypothyroidism exists and its use prevents mental retardation. The prevalence of spontaneous hypothyroidism is between 1% and 2% and is more common in older women and 10 times more common in women than in men. A significant proportion of subjects have asymptomatic chronic autoimmune thyroiditis and 8% of women (10% of women over 55 years of age) and 3% of men have subclinical hypothyroidism. Approximately one third of patients with newly diagnosed overt hypothyroidism have received destructive therapy for hyperthyroidism and indefinite surveillance is required. There is not much that can be done to prevent the occurrence of spontaneous autoimmune hypothyroidism, but if identified early, something can be done to prevent progression to overt disease. Controversy exists as to whether healthy adults would benefit from screening for autoimmune thyroid disease because a significant proportion of subjects tested will have evidence of mild thyroid failure. Case finding in women at menopause or visiting a primary care physician with nonspecific symptoms appears justified.

Humans↗

Achieving compliance with the European Working Time Directive in a large teaching hospital: a strategic approach.

This paper describes the strategy which achieved European Working Time Directive (EWTD) compliance at the Royal Free Hampstead NHS Trust in medicine and surgery. Compliance with EWTD regulations was assessed by diary card exercise, clinical care assessed through critical incident reports, electronic handover documents and nursing reports, training opportunities assessed by unit training directors, cost controls assessed by finance department analysis, and workload assessed by staff attendance on wards, in casualty and in theatres. There was a change in focus of care to a consultant-led, specialist registrar- (SpR-)driven service extending into evenings and on weekends, coupled with a move to a multi-skilled team for night cover, and to a move from traditional on-call shifts to a full shift system across both medicine and surgery. Compliance with the EWTD was achieved whilst maintaining good standards of clinical care, ensuring training opportunities for doctors in training, controlling payroll costs, removing the need for locums, and reducing workload for both junior doctors and consultants.

England↗