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Biomedical subjects

L Verbruggen

Publications and source records attributed to L Verbruggen.

At least 19 recordsLinked to original sources
PubMed2005

Healthcare consumption and direct costs of rheumatoid arthritis in Belgium.

The aim of this study was to compare the socioeconomic consequences of early and late rheumatoid arthritis in Belgium and to assess the patient out-of-pocket contributions. This multicentre longitudinal study in Belgium evaluated patients with rheumatoid arthritis. Early disease was defined as diagnosis since less than 1 year. At baseline sociodemographic and disease characteristics were assessed and during the following year patients recorded all healthcare- and non-healthcare-related direct costs and out-of-pocket contributions. The study included 48 patients with early and 85 patients with late rheumatoid arthritis. Mean disease duration was 0.5 vs 12.5 years in patients with early and late rheumatoid arthritis, respectively. The disease activity score (DAS28) was comparable between both groups (4.1 vs 4.5, p = 0.14), but physical function (Health Assessment Questionnaire, HAQ) was more impaired in patients with long-standing disease (1.0 vs 1.7, p < 0.001). Work disability had increased from 2% in patients with early to 18% in patients with late disease. The annual societal direct costs per patient were 3055 Euros (median: 1518 Euros) opposed to 9946 Euros (median: 4017 Euros) for early and late rheumatoid arthritis, respectively. The higher direct cost for patients with long-standing disease was seen for all categories, but especially for physiotherapy and need for devices and adaptations. Patients with early as well as late disease contribute out of pocket about one-third to the direct healthcare costs. Within each group, HAQ was a strong determinant of costs. In Belgium, patients with long-standing rheumatoid arthritis are nine times more likely to be work disabled than patients with less than 1 year disease duration and have a threefold increase in costs. Differences in healthcare consumption between patients could be mainly explained by differences in physical function (HAQ).

Adult↗
PubMed2005

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, molecular evidence for CED was available, as a mutation was detected in TGFB1, the gene encoding transforming growth factor (TGF) beta1. Pain in the extremities was the most common clinical symptom, present in 68% of the patients. A waddling gait (48%), easy fatigability (44%), and muscle weakness (39%) were other important features. Radiological symptoms were not fully penetrant, with 94% of the patients showing the typical long bone involvement. A large percentage of the patients also showed involvement of the skull (54%) and pelvis (63%). The review provides an overview of possible treatments, diagnostic guidelines, and considerations for prenatal testing. The detailed description of such a large set of CED patients will be of value in establishing the correct diagnosis, genetic counselling, and treatment.

Camurati-Engelmann Syndrome↗
PubMed2004

Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.

A positional cloning effort in French Canadian families with Paget's disease of bone (PDB) resulted in the identification of a mutation in the sequestosome1 (SQSTM1) gene in a subset of both familial and sporadic PDB cases. This was confirmed in samples of mainly United Kingdom (UK) origin. In this study, we performed both mutation analysis and association studies in order to evaluate the role of this gene in a collection of isolated Belgian PDB patients. A mutation in the SQSTM1 gene was found in only 6 of 111 patients (5.4%). In all cases it involves the P392L mutation, previously shown to be common in both familial and sporadic cases. To perform association studies, we selected 8 single nucleotide polymorphisms (SNPs) and looked for linkage disequilibrium (LD) between these. Haplotype analysis indicated that typing of 3 Tag SNPs (IVS1 + 633A/C, IVS5 - 23A/G, and 976A/G) enables us to identify the most common haplotypes. Association studies for the 3 selected SNPs, based on 105 PDB cases without a SQSTM1 mutation and 159 control individuals, did not support a possible influence of natural variants in the SQSTM1 gene either on the pathogenesis of PDB or on the disease severity. In conclusion, our study confirms that the P392L mutation is a recurrent mutation causing PDB in different populations. We were not able to show an association between SQSTM1 polymorphisms and PDB in our population but this clearly needs to be extended to other populations. The presented identification of haplotype Tag SNPs will be of major help for such studies.

Adaptor Proteins, Signal Transducing↗
PubMed2001

Evaluation of the role of RANK and OPG genes in Paget's disease of bone.

Paget's disease of bone (PDB) is one of the most common bone disorders in the western world. PDB is characterized by focal areas of increased osteoclastic bone resorption and bone formation, which leads to the formation of poorly structured bone. These abnormalities of bone turnover and structure predispose affected individuals to various complications including bone pain, deformity, pathological fracture, and an increased risk of osteosarcoma. One of the main mechanisms of osteoclast formation and activation involves the receptor activator of nuclear factor -kappaB (RANK)/RANK ligand (RANKL)/osteoprotegerin (OPG) pathway, where binding of RANKL to RANK results in the differentiation of osteoclast precursors. OPG, on the other hand, acts as an inhibitor of osteoclastogenesis by serving as a decoy receptor for RANKL. Recently, mutations in the RANK gene have been shown to cause familial expansile osteolysis, a rare bone disorder showing great similarity to PDB. We performed mutation analysis in the RANK and OPG genes in 28 PDB patients to investigate whether mutations in these genes could be responsible for PDB. Our data suggest that RANK is not directly involved in PDB in our set of patients, as no mutations in the RANK coding region could be identified and allele frequencies of RANK polymorphisms did not differ in PDB patients as compared with the random population. Also, in the OPG gene, we could not detect PDB-causing mutations. However, of the several polymorphisms identified, one (400 + 4 C/T in intron 2), showed a statistically significant increased frequency for the C allele in PDB patients, suggesting that individuals harboring this allele may be more susceptible for developing PDB.

Carrier Proteins↗
PubMed2000

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.

Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare, sclerosing bone dysplasia inherited in an autosomal dominant manner. Recently, the gene causing CED has been assigned to the chromosomal region 19q13 (refs 1-3). Because this region contains the gene encoding transforming growth factor-beta 1 (TGFB1), an important mediator of bone remodelling, we evaluated TGFB1 as a candidate gene for causing CED.

Bone Remodeling↗
PubMed1987

Hematuria as presenting sign in Wissler-Fanconi syndrome.

We describe a case of persistent microscopic hematuria as initial finding in incomplete Still's disease or Wissler-Fanconi syndrome. Renal biopsy findings were compatible with intravascular coagulation. Wissler-Fanconi syndrome and the associated renal abnormalities are briefly reviewed.

Adolescent↗
PubMed1983

An unusual cause of attacks of focal cerebral symptoms: multiple endocrine neoplasia type IIA.

A case of MEN type IIa is described showing among other symptoms, three attacks of transient neurological symptoms. These were attributed to a localized, transient cerebral ischemia. The latter probably developed as a consequence of the concomitant occurrence of different phenomena: the existence of hypercalcemia and on the other hand the secretion of vasoactive substances by one of the three tumours forming the MEN type IIa syndrome. The pheochromocytoma played an essential role because the symptoms did not recur after the bilateral adrenalectomy.

Adenoma↗
PubMed1980

Effect of bioflavonoids on lysosomal acid hydrolases and lysosomal stability in adjuvant-induced arthritis.

In rats with adjuvant-induced arthritis, the effect of (+)-catechin (CA) and 0-(beta-hydroxyethyl) rutosides (HR) on the activity of certain lysosomal acid hydrolases, viz., beta-glucuronidase, beta-N-acetyl glucosaminidase and cathepsin D in serum, liver, kidney and spleen and the stability of liver lysosomes was studied. The activity of these enzymes in arthritic tissues and serum increased significantly. The total activity of beta-glucuronidase in the lysosome-rich fraction from arthritic liver was appreciably decreased, while its release was significantly increased. These results demonstrate the fragility of lysosomes in arthritic tissues. Administration of CA or HR to the arthritic animals was found to have a prophylactic action by stabilizing liver lysosomes and reducing the free lysosomal enzyme activities in serum, liver, kidney and spleen. CA was more effective than HR.

Animals↗
PubMed1979

Hormone-dependent growth of a rat chondrosarcoma in vivo.

The importance of various hormonal factors in the growth of a transplantable chondrosarcoma has been studied in vivo. Tumor growth was reduced by 95% in adrenalectomized or hypophysectomized rats as compared to normal animals. The number of tumors developing in either adrenalectomized or hypophysectomized rats was reduced more in male than in female rats. However, ovariectomy or orchiectomy did not alter the growth of the tumor. The inhibition of tumor growth in adrenalectomized and hypophysectomized animals was only observed after the first 10 days following inoculation. Cortisone (4-pregnen-17 alpha,21-diol-3,11,20-trione) administration fully restored tumor growth in adrenalectomized animals while adrenocorticotropic hormone or growth hormone were only partially effective in supporting tumor growth in hypophysectomized animals. High-affinity glucocorticoid receptors (7 to 10S) were present in the cytosls prepared from the tumor cells and were found to be increased in tumors from adrenalectomized animals. These results indicate that the growth of this chondrosarcoma is strongly dependent upon endocrine factors of adrenal and pituitary origin.

Adrenal Glands↗
PubMed1975

Automated analysis of total urinary hydroxyproline based on resin-catalysed hydrolysis.

An automated method for the analysis of total urinary hydroxyproline using strong cation resin tablets of Hypronosticon is described for use in a clinical laboratory and the results are compared with those obtained by other methods. Even though good recoveries are obtained using the technique described in the present work by adding the internal standards either before or after hydrolysis of urine, the present method gave consistently lower values of urinary hydroxyproline compared with a manual and an automated method.

Autoanalysis↗