Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Subtelomeric rearrangements are believed to be responsible for 5-7% of idiopathic mental retardation cases. Due to the relative complexity and high cost of the screening methods used till now, only preselected patient populations including mostly the more severely affected cases have been screened. Recently, multiplex ligation-dependent probe amplification (MLPA) has been adapted for use in subtelomeric screening, and we have incorporated this technique into routine diagnostics of our laboratory.

A subterminal deletion of the long arm of chromosome 10: a clinical report and review.

We report on a girl with mental retardation, dysmorphic features, and behavioral problems. A small terminal deletion of the long arm of chromosome 10 was detected by subtelomeric fluorescence in situ hybridization (FISH) studies in all analyzed metaphases. The deletion was shown to be a de novo terminal deletion of approximately 6.

Variability in quality of care among dialysis units in western Switzerland.

Background: Quality indicators for dialysis care vary across countries and regions, but regional variability across centres has received little attention. We analysed variations in quality indicators among dialysis facilities in western Switzerland to identify opportunities for improving care for patients with end-stage kidney disease.

Methods: A cross-sectional study of 617 dialysis patients treated at 19 facilities examined the distribution of indicators of quality of care addressing: adequacy of dialysis (Kt/V > or =1.

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

Deletions of the 1q telomere have been reported in several studies screening for subtelomeric rearrangements. However, an adequate clinical description is available from only a few patients. We provide a clinical description of a patient with a subtelomeric deletion of chromosome 1q, previously detected by us in a screening study.

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

Congenital diaphragmatic hernia (CDH) has an incidence of 1 in 3,000 births and a high mortality rate (33%-58%). Multifactorial inheritance, teratogenic agents, and genetic abnormalities have all been suggested as possible etiologic factors. To define candidate regions for CDH, we analyzed cytogenetic data collected on 200 CDH cases, of which 7% and 5% showed numerical and structural abnormalities, respectively.

An interstitial deletion of chromosome 7 at band q21: a case report and review.

We report on a girl with moderate developmental delay and mild dysmorphic features. Cytogenetic investigations revealed a de novo interstitial deletion at the proximal dark band on the long arm of chromosome 7 (7q21.1-q21.

A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter.

Objective: To describe a woman with a nonmosaic (45,X) form of Turner's syndrome who gave birth to a girl with 45,X Turner syndrome.

Design: Patient report.

Setting: Outpatient clinic of a university hospital.

A HPTLC densitometric determination of flavonoids from Passiflora alata, P. edulis, P. incarnata and P. caerulea and comparison with HPLC method.

A high-performance thin layer chromatographic (HPTLC) method was developed in order to determine quantitatively the flavonoids in leaves of Passiflora alata, P. edulis, P. caerulea and P.

High prevalence in Switzerland of pure red-cell aplasia due to anti-erythropoietin antibodies in chronic dialysis patients: report of five cases.

Background: Pure red-cell aplasia (PRCA) after erythropoietin (Epo) administration due to the appearance of neutralizing anti-Epo antibodies has been reported in over 200 cases between 1998 and 2002. However, large intercountry disparities were observed in the occurrence of this syndrome.

Methods: On behalf of the Swiss Society of Nephrology, a survey was conducted in all the dialysis units of Switzerland in order to collect information on the occurrence, diagnostic and evolution data of the cases observed.

Patient referral is influenced by dialysis centre structure in the Diamant Alpin Dialysis cohort study.

Background: Late referral (LR) to the nephrologist of patients with progressing chronic kidney disease (CKD) has numerous deleterious effects and is observed in many countries. The contributing factors associated with LR are controversial and poorly defined. We hypothesized that these factors might be better identified by analysing patients starting dialysis in three distinct European countries within the same area.

LC/MS/NMR analysis of isomeric divanilloylquinic acids from the root bark of Fagara zanthoxyloides Lam.

Gradient HPLC coupled to DAD/UV, MS/MS and NMR has been applied to the rapid structure determination of three new isomeric divanilloylquinic acids from Fagara zanthoxyloides collected in Burkina Faso: 3,4-O-divanilloylquinic acid, 3,5-O-divanilloylquinic acid and 4,5-O-divanilloylquinic acid. Furthermore these new compounds named burkinabins A-C could play a useful role in sickle cell disease, as the active agents of Fagara zanthoxyloïdes are said to be unidentified aromatic compounds with carboxylic acid grouping (Adesanya, S.A.

Quality of life on chronic dialysis: comparison between haemodialysis and peritoneal dialysis.

Background: Quality of life (QOL) assessment in patients on chronic haemodialysis (HD) or peritoneal dialysis (PD) has only rarely been carried out with the generic Euroqol-5D questionnaire.

Methods: All chronic HD and PD patients in the 19 centres of western Switzerland were requested to fill in the validated Euroqol-5D generic QOL questionnaire, assessing health status in five dimensions and on a visual analogue scale, allowing computation of a predicted QOL value, to be compared with the value measured on the visual analogue scale.

Results: Of the 558 questionnaires distributed to chronic HD patients, 455 were returned (response rate 82%).

Laparoscopic right nephrectomy for live kidney donation: functional results.

Laparoscopic live-donor nephrectomy has gained wide acceptance. However, the vast majority of surgeons perform left nephrectomies only, which may not always be in the best interest of the donor. Of 17 consecutive laparoscopic donor nephrectomies, 13 were done on the right side.

Color Doppler imaging is a valuable tool for the diagnosis and management of uterine vascular malformations.

Objective: The aim of this study was to assess the spontaneous outcome of uterine vascular malformations detected with ultrasonography and color Doppler, and to investigate the predictive value of color Doppler imaging as to which patients require invasive treatment.

Methods: This was a prospective observational study conducted between January 1999 and February 2001 comprising all consecutive patients diagnosed with a uterine vascular malformation by ultrasonography and color Doppler imaging. Spectral analysis included measurement of flow velocities, pulsatility index (PI) and resistance index (RI).

Isolation and characterization of chondrolectin (Chodl), a novel C-type lectin predominantly expressed in muscle cells.

In this study, we identified and characterized the mouse orthologue of the human chondrolectin gene, Chodl. Chodl is located at chromosome 16C3 and consists of six exons and five introns. The putative full-length mouse cDNA of Chodl consists of 2393 bp, with an open reading frame of 839 bp, 243 bp of 5' untranslated region and 1310 bp of 3' untranslated region.

A three-arm study comparing immediate tacrolimus therapy with antithymocyte globulin induction therapy followed by tacrolimus or cyclosporine A in adult renal transplant recipients.

Background: Induction therapy with antithymocyte globulin (ATG) reduces the incidence of acute rejection after transplantation. A study was undertaken to assess the efficacy and safety of ATG induction on tacrolimus-based and cyclosporine A (CsA)-based therapies compared with immediate tacrolimus triple therapy in kidney transplant recipients.

Methods: In a 6-month, open-label, randomized, prospective study conducted in 30 European centers, 555 renal transplant patients were randomly assigned to tacrolimus triple therapy (Tac triple, n=185), ATG induction with tacrolimus (ATG-Tac, n=186), or ATG induction with CsA microemulsion (ATG-CsA, n=184); all were combined with azathioprine and corticosteroids.

A novel alternative spliced chondrolectin isoform lacking the transmembrane domain is expressed during T cell maturation.

Chondrolectin (CHODL) is a novel type I transmembrane protein containing one carbohydrate recognition domain (CRD) of C-type lectins. Recently, data base searching revealed a variant of CHODL (AK022689) with a different 5' leader sequence derived from a new putative upstream alternative promoter (P2). The P2 promoter gives rise to at least three additional alternatively spliced isoforms, designated as CHODLf, CHODLf Delta E, and CHODL Delta E.