Purpose  The effect of 40 μg (1,600 IU) per day of vitamin D₃ on serum 25-hydroxyvitamin D (25(OH)D) and markers of bone and mineral metabolism was evaluated. Methods  This intervention study was designed as a double-blind randomised controlled trial. Forty-five community-dwelling subjects (32 females), age 55–84 years, at 58° North latitude were supplemented for 1 year with 40 μg vitamin D₃ plus 1,000 mg calcium per day, or with 1,000 mg calcium per day for controls. Safety parameters and 25(OH)D, intact parathyroid hormone (PTH), ionized calcium, bone-specific alkaline phosphatase (BALP), and tartrate-resistant acid phosphatase isoform 5b (TRACP5b) were measured over the study period. Results  All subjects supplemented with vitamin D₃ reached a 25(OH)D level above 50 nmol/L. Mean (SD) serum 25(OH)D increased from 50.4 (13.5) nmol/L to 84.2 (17.5) nmol/L, range 55.0–125.0 nmol/L in the vitamin D₃ supplemented group and the corresponding levels for the control group were 47.3 (14.1) nmol/L and 45.7 (13.4) nmol/L, range 26.0–73.0 nmol/L. No serious adverse event was recorded and the highest 25(OH)D level reached, 125.0 nmol/L, is well below toxic levels. BALP and TRACP5b did not change significantly over the study period. Conclusions  This trial suggests that a daily supplementation with 40 μg vitamin D₃ is sufficient to secure a 25(OH)D level of 50 nmol/L. No side effects were observed in the study group.

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Background

Quantitative studies using generic and disease-specific health-related quality of life (HRQOL) questionnaires have shown that osteoporosis-related vertebral fractures have a significant negative effect on HRQOL, but there are only few studies that address what it means to live with vertebral fracture from a deeper experiential perspective. How HRQOL and daily life are affected several years after vertebral fracture and how women cope with this are more unclear. This study aimed to describe how HRQOL and daily life had been affected in women with vertebral fracture several years after diagnosis.

Methods

The study design was qualitative. Semi-structured interviews were conducted with ten Swedish women during 2008. Data were analysed using qualitative inductive content analysis.

Results

The findings of this study revealed three themes related to the influence on HRQOL and daily life: A threatened independence, i.e. back pain, anxiety, negative impact on self-image and consequences in daily life; Strategies for maintaining independence, i.e. coping, self-care and support; and The importance of maintaining independence, i.e. the ability to perform everyday activities, social interaction and having something meaningful to do. The women were striving for independence or maintaining their independence by trying to manage different types of symptoms and consequences in different ways.

Conclusion

HRQOL and daily life were strongly affected in a negative way by the impact of the vertebral fracture. Information from this study may provide new knowledge and understanding of the women's experiences of living with vertebral fracture from an insider's point of view in order to obtain a deeper understanding of the women's everyday life. However, further evaluation is still needed in larger study groups.

Weight loss is a common problem in Parkinsons disease (PD), but the causative mechanisms behind this weight loss are unclear. We compared 2( PD patients with sex and age matched healthy controls. Examinations were repeated at baseline, after one and after two years. Body fat mass was measured by Dual X-ray Absorptiometry (DXA). Seventy three per cent of the PD patients lost body weight. Loss of body fat mass constituted a considerable part of the loss of body weight. In the patients who lost weight, serum leptin levels were lower than in those who did not lose weight. The relationship between low body fat mass and low leptin levels seems to be relevant, at least for female PD patients. It is reasonable to believe that low leptin levels in these patients could be secondary to the decreased body fat mass.

Objective: To report on a novel strategy for tumor localization in a 62-year-old man with hypophosphatemic tumor-induced osteomalacia (TIO).

Methods: Repeated computed tomographic and magnetic resonance imaging scans failed to localize any tumor in a patient with adult-onset hypophosphatemic osteomalacia. Therefore, venous sampling for fibroblast growth factor-23 (FGF23)—a circulating hormone that has been identified as a causative factor for TIO—in major veins was conducted. Serum FGF23 was measured from collected samples by an intact FGF23 enzyme-linked immunosorbent assay.

Results: Venous sampling suggested a local increase in serum FGF23 in the left femoral vein; this finding prompted performance of octreotide scintigraphy restricted to the left leg. A tumor was located at the lateral condyle of the left femur, which was also confirmed by magnetic resonance imaging. Surgical resection of the tumor normalized the serum phosphorus and 1,25-dihydroxyvitamin D₃ levels within 5 to 10 days, and FGF23 declined to normal levels within 24 hours. Histologic analysis supported the diagnosis of a soft-tissue giant cell tumor.

Conclusion: Our study case demonstrates the diagnostic complexity and difficulties in localizing a small tumor in a patient with TIO. Venous sampling for FGF23 may be helpful in tumor localization in sporadic cases of hypophosphatemic osteomalacia, especially when noninvasive diagnostic techniques prove insufficient.

Objective - The objective of the present study was to find risk factors for low bone mineral density (BMD) in patients with Parkinson's disease (PD). Material and methods - Twenty-six PD patients and 26 age-and sex-matched healthy controls were assessed twice within a 1-year period. PD symptoms, body weight, body fat mass, BMD, physical activity, smoking and serum concentrations of several laboratory analyses were investigated. Results - BMD in different locations was lower in PD patients compared with their controls and decreased during the investigated year. BMD was lower in PD patients with low body weight. BMD Z-score of trochanter in the PD group was directly correlated to the degree of physical activity and indirectly to the length of recumbent rest. Total body BMD Z-score in the PD group was directly correlated to the degree of rigidity. Serum 25-hydroxy-vitamin D was slightly lower in PD patients. Conclusion - Low body weight and low physical activity were risk factors for low BMD in PD, while rigidity seemed to be protective. © 2007 The Authors.

Context: Multiple endocrine neoplasia type 1 (MEN1) is a tumor syndrome of the parathyroid, endocrine pancreas, and anterior pituitary caused by mutations in the MEN1 gene on 11q13. Objective: The goal of this study was to determine the MEN1 mutation spectrum and detection rate among Swedish patients and identify which patient categories should be tested for MEN1 mutations. Design/Setting/Patients: DNA sequences and referral forms from patients referred to the Department of Clinical Genetics at Karolinska University Hospital, Sweden, for clinical MEN1 mutation screening were analyzed. The mutation status of 371 patients (including 200 probands) was ascertained, and the multiplex ligation-dependent probe amplification (MLPA) assay was evaluated for the detection of large deletions. Main Outcome Measure: The main outcome measure was MEN1 genotypes. Results: Forty-eight of 200 index cases (24%) shared 40 different mutations (18 novel). A total of 69% of all mutations resulted in a truncated protein. Two large deletions were detected by MLPA. A total of 94% of all MEN1 families had a mutation in the coding region of the MEN1 gene. A total of 6% of sporadic cases had MEN1 mutations. There was no correlation between severe disease and mutation type or location. Conclusions: A total of 4% of all mutations were large deletions, and MLPA is now included in our standard MEN1 mutation screening. Individuals with at least one typical endocrine tumour and at least one of the following: 1) a first-degree relative with a major endocrine tumor, 2) an age of onset less than 30 yr, and/or 3) multiple pancreatic tumors/parathyroid hyperplasia were most likely to harbor a mutation, thus these patients should be screened for MEN1 mutations. Copyright © 2007 by The Endocrine Society.

Introduction: Treatment of osteoporosis is becoming more effective, but methods to identify patients who are most suitable for investigation and treatment are still being debated. Should any type of fracture have higher priority for investigation of osteoporosis than any other? Is the number of previous fractures useful information? Material and methods: We investigated 303 consecutive women patients between 55 and 75 years of age who had a newly diagnosed low-energy fracture. They answered a questionnaire on previous fractures which also dealt with risk factors. Bone mineral density (BMD) was measured at the hip, lumbar spine, and forearm. Results: The distribution of fracture location was: distal forearm 56%, proximal humerus 12%, vertebra 18%, and hip 13%, all with similar age. Half of the subjects had had at least one previous fracture before the index fracture, 19% had had two previous fractures, and 6% had had three or more previous fractures. Patients with vertebral or hip fracture had lower BMD and had had more previous fractures than patients with forearm or humerus fractures. There was an inverse correlation between number of fractures and BMD. Osteoporosis was present in one-third of patients with forearm fracture, in one-half of those with hip or humerus fracture, and in two-thirds of those with vertebral fracture. Interpretation: Vertebral fractures were the strongest marker of low BMD and forearm fractures the weakest. The number of previous fractures is helpful information for finding the most osteoporotic patient in terms of severity. Investigation of osteoporosis therefore seems warranted in every woman between the ages of 55 and 75 with a recent low-energy fracture, with highest priority being given to those with vertebral, hip, or multiple fractures. Copyright© Taylor & Francis 2007. all rights reserved.