Neurofibromatosis and the role of the specialist adviser.

Neurofibromatosis (NF) is a genetic condition that mainly involves the nervous system. There are two types: NF1 affects about one in 2,500 of the population worldwide and NF2 affects one in 35,000. Both types result in complex health problems for patients and can pose significant challenges for all those involved in their management. Established in 1981, The Neuro Foundation is a patient-focused charity that funds a network of specialist advisers who work in partnership with the NHS to offer support and advice for families affected by NF and the professionals who care for them. With a significant level of autonomy, the specialist adviser role is flexible in matching the needs of those affected while working cooperatively alongside the national specialist services for NF1 and NF2.

Role of vitamin D deficiency in continued hyperparathyroidism following parathyroidectomy.

BACKGROUND: The aim of this study was to investigate vitamin D deficiency as an etiology for patients with elevated parathormone (PTH) levels after parathyroidectomy. METHODS: Fifity-five patients were identified who had undergone parathyroidectomy between January 2003 and November 2006 with complete records that included measurements of preoperative and postoperative PTH, vitamin D, calcium, ionized calcium, and sestamibi localization results. RESULTS: Thirteen patients (24%) had elevated PTH at 1 week postoperatively. Sixty-two percent of these patients (N = 8, 15% overall) had vitamin D deficiency. Thirty-one percent (N = 4, 7% overall) had persistent biochemical evidence of primary hyperparathyroidism. Three of the 4 had a subsequent positive sestamibi parathyroid localization of an additional adenoma (5.5% series incidence of double adenomas). CONCLUSION: Given the known prevalence of vitamin D deficiency, consideration should be given to preoperative vitamin D testing to avoid confusion about the etiology of persistently elevated PTH following surgery.

A retrospective study of the association between megestrol acetate administration and mortality among nursing home residents with clinically significant weight loss.

BACKGROUND: Megestrol acetate (MA) is a progestin widely used to treat weight loss and cachexia in patients suffering from AIDS or cancer. Although MA is also frequently prescribed for similarly malnourished elderly individuals, the efficacy and morbidity of MA treatment in this patient population remain unclear. OBJECTIVE: The goal of this study was to examine the effects of MA therapy on weight and overall mortality in elderly nursing home residents. METHODS: This was a case-control cohort study of 17,328 nursing home residents admitted to Beverly Healthcare nursing home between January 1, 2000, and December 31, 2003, who had lost either 5% of total body weight within 3 months or 10% of total body weight within 6 months. Residents within this weight loss group who received MA therapy--within 30 days of their weight loss documentation--were matched (1:2) with non-MA-treated residents with respect to age, sex, race, weight, and first notation of weight loss. Residents were further matched by propensity score for activities of daily living, cognitive functioning, number of medications taken during the 7 days before data entry, clinical condition (unstable, acute episode of a recurrent problem, end-stage disease), cancer diagnosis, and human immunodeficiency virus diagnosis. RESULTS: A total of 709 patients (mean [SD]age, 84.1 [9.7]years; 70.9% female) who received MA therapy were matched with 1418 non-MA-treated patients (mean [SD] age, 84.2 [9.0] years; 70.9% female). Of the 709 MA patients, 281 (39.6%) were alive and in the nursing home at last follow-up, 149 (21.0%) were alive and discharged to another facility or to home, and 279 (39.4%) died in the nursing home. For the controls, 651 (45.9%) were alive and in the nursing home, 308 (21.7%) were discharged to another facility or to home, and 459 (32.4%) died in the nursing home. The median survival of MA-treated residents (23.9 months; 95% CI, 20.2-27.5) was significantly less than untreated residents (31.2 months; 95% CI, 27.8-35.9) (P < 0.001). Median weight and median of weight differences were unchanged after 6 months of treatment with MA compared with matched controls. CONCLUSIONS: MA treatment of elderly nursing home residents with significant weight loss was associated with a significant increase in all-cause mortality without a significant increase in weight. Randomized, prospective studies of the use of MA in elderly nursing home residents are necessary to more fully evaluate morbidity and mortality associated with this therapy.

Vitamin D deficiency in residents of academic long-term care facilities despite having been prescribed vitamin D.

OBJECTIVES: Vitamin D is vitally important in maintaining skeletal health. A low plasma vitamin D concentration is associated with increased parathyroid hormone secretion, increased bone turnover, osteomalacia, and osteoporosis. As a result, vitamin D deficiency is associated with a higher incidence of hip and other fractures. Although Vitamin D deficiency has been reported in long-term care facilities, optimal methods of replenishment have not been defined. The objective of the present study was to identify the pattern of calcium and vitamin D supplementation in nursing home residents and to identify vitamin D deficiency in residents already on supplement therapy. DESIGN: Retrospective chart review. SETTING: Five academic nursing homes staffed by faculty from the University of Arkansas for Medical Sciences. PARTICIPANTS: Elderly residents aged 65 and older receiving calcium and vitamin D supplements. MEASUREMENTS: Data on dose, frequency, and levels of calcium and vitamin D were collected. The medication list and creatinine levels were also recorded. RESULTS: Forty-four (40%) residents were receiving 1000 mg, 48 (44%) were receiving 1200 mg, and 9 (8.2%) were receiving 1500 mg of calcium carbonate. Similarly, 79 (72%) residents were on 400 IU, 13 (12%) were on 600 IU, and only 8 (7%) were on 800 IU of vitamin D3 (cholecalciferol). Low levels of Vitamin D 25 (OH) D (values <30 ng/mL) were identified in 49.4% of residents; 16% were found to have deficiency (<20 ng/mL). CONCLUSION: Despite clear benefit, nursing home residents were not supplemented adequately with calcium and vitamin D.

Teriparatide in the management of osteoporosis.

Fracture of the hip is frequently a catastrophic event in the elderly, often resulting in death within a year and of the survivors, few regain pre-fracture quality of life. Although less appreciated, fractures of the spine result in significant morbidity and are also associated with increased mortality compared with individuals without a fracture. In recent years there has been an explosion in the development of new drugs for the treatment of osteoporosis. Recombinant human parathyroid hormone (1-34) (20 microg/day) is a recent addition to this armamentarium with a novel mechanism of action, which was approved by the US FDA for the treatment of postmenopausal osteoporosis and male osteoporosis secondary to hypogonadism in November 2002. It is the first osteoporosis treatment that leads to the formation of new bone with architecture similar to normal bone. Intense efforts have been made to understand the effect of teriparatide on antiresorptive therapy and vice versa. Although these relationships are not completely understood, the results of recent studies allow clinicians to begin to optimize therapeutic gains in bone mineral density and improve anti-fracture efficacy.