Background and objectives: Patients with chronic obstructive pulmonary disease (COPD) often have alterations in body weight and composition. Lower vitamin D status is more common in patients with ...COPD compared to controls and have been related to muscle atrophy and impaired musculoskeletal function. Therefore, we aimed to investigate the relationship between 25-hydroxyvitamin D (25(OH)D) and body composition (BC), as well as longitudinal changes in BC, in patients with COPD and controls. Methods: Patients with COPD and controls participating in the Individualized COPD Evaluation in relation to Ageing (ICE-Age) study, a Dutch prospective observational study, were included. Plasma 25(OH)D was assessed at baseline using radioimmunoassay, and values <50 nmol/L were referred to as insufficient. BC was measured using dual X-ray absorptiometry, at baseline and after two years. Multiple linear regression analyses were performed to assess the relationships between 25(OH)D (nmol/l) and longitudinal changes in BC. Means ± standard deviations are shown, unless otherwise stated. Results: In total, 192 patients with COPD, age 62 ± 7 years and 199 controls, age 61 ± 7 years, were included. Plasma 25(OH)D was lower in patients with COPD (64 ± 26 nmol/L) compared to controls (75 ± 25 nmol/L), p < 0.001, despite a higher proportion of patients reported vitamin D supplement use (15% vs 2%), p < 0.001. Bone mineral density (BMD) at proximal femur and lumbar spine was significantly lower in patients with COPD compared to controls (p < 0.001). Both patients and controls had significant declines in fat-free mass index (FFMI) (–0.4 ± 0.8, p < 0.001 vs –0.1 ± 0.5 kg/m², p = 0.002 respectively) and T-score hip (median –0.1 (–0.5 – 0.2), and –0.1 (–0.4 – 0.1) respectively, p < 0.001 for both). No significant relationship was seen between 25(OH)D (nmol/L) and change in BMI (p = 0.43), FFMI (p = 0.34), fat-mass index (p = 0.25), T-score hip (p = 0.19) or T-score lumbar spine (p = 0.21) over two years. Discussion: No associations between vitamin D status and BC or longitudinal changes in BC were found. However, the results demonstrate that vitamin D insufficiency and low BMD is more common in patients with COPD compared to controls. Our findings highlight the importance to routinely measure vitamin D status and BC in patients with COPD.
The principle cause of one of the most prevalent genetic disorders, autosomal dominant polycystic kidney disease, involves mutations in the PKD1 gene. However, since its identification in 1994, only ...27 mutations have been published. Detection of mutations has been complicated because the greater part of the gene lies within a genomic region that is reiterated several times at another locus on chromosome 16. Amplification of DNA fragments in the repeated part of the PKD1 gene will lead to coamplification of highly homologous fragments derived from this other locus. These additional fragments severely hamper point-mutation detection. None of the point mutations published to date are located in the repeated part of the PKD1 gene. However, we have reduced the problems posed by the strong homology, by using the protein-truncation test, and we have identified eight novel mutations, seven of which are located in the repeated part of the PKD1 gene.
The polycystic kidney disease-1 gene, which is mutated in the majority of patients with autosomal dominant polycystic kidney disease, has been identified. The protein encoded by this gene, ...polycystin, has no homology with any gene known thus far. To gain more insight into the function of polycystin, we raised antibodies against synthetic peptides and a fusion protein corresponding to the sequence of two different fragments of polycystin. Two of the antibodies were capable of immunoprecipitating an in vitro transcription and translation product corresponding to a fragment of polycystin. In the cyst-lining epithelium of polycystic kidney disease-1 patients, a strong staining was observed. In normal adult and embryonic kidney tissues, expression was seen in the epithelium of all tubular structures and in the glomerular parietal and visceral epithelium (podocytes), although the podocytes were mainly recognized on cryosections and not on paraffin sections. A double-labeled immunofluorescence with one of the polycystin antibodies and the monoclonal antibody 8G8 ascertained that within the glomerular tuft podocytes were recognized.
The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of ...two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective conformation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome.
Chronic obstructive pulmonary disease is a growing health concern worldwide. Telehealth can facilitate integrated COPD care by providing an opportunity for remote monitoring, early diagnosis and ...clinical intervention. A design for a telehealth-based system called Wearable Sensing and Smart Cloud Computing for Integrated Care to COPD Patients with Co-morbidities (WELCOME) has been proposed. This study identifies patients', informal carers' and HCPs' acceptance of and requirements for the WELCOME system in four European countries: the United Kingdom (UK), Ireland, Greece and Netherlands.
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