Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.

Case-control study on the survival of abutment teeth of partially dentate patients.

OBJECTIVES: Due to the scarce amount of data available, a retrospective analysis of patients treated with removable dental prostheses (RDPs) was performed. The aim of the trial was to evaluate the rate of repairs and failures of attachment-retained RDPs (AR-RDPs) compared to clasp-retained RDPs (CR-RDPs) with respect to cofactors (e.g., type of loading). In this respect, two hypotheses were proposed: AR-RDPs are more prone to repairs than CR-RDPs, and AR-RDPs are more prone to fail than CR-RDPs. MATERIALS AND METHOD: Two hundred three patients treated with 135 AR-RDPs and 68 CR-RDPs between 1994 and 2006 were evaluated in this trial. The dental treatment was carried out in the clinical training course of senior students. Kaplan-Meier estimates were calculated for the primary end point (repairs) and for the secondary end point (failures). RESULTS: The survival of CR-RDPs and AR-RDPs did show significant differences regarding repairs (p = 0.034) but not with regard to failures (p = 0.169). Prostheses of the non-axially loaded group showed no significant differences in the frequency of repairs and failures. CONCLUSIONS: Technical complications occurred more frequently in the CR-RDP group. Taking the higher observation time in the AR-RDP group into account, CR-RDPs are more prone to repairs, especially to those with technical background (e.g., fracture of the metal framework). CLINICAL RELEVANCE: The use of crowns with rod attachments on tilted teeth seems to be an appropriate treatment approach in order to simplify removable dental prosthesis design.

Detection of Mycobacterium tuberculosis resistance mutations to rifampin and isoniazid by real-time PCR.

OBJECTIVE: The objective of our study was to evaluate the use of a real-time polymerase chain reaction (PCR)-based technique for the prediction of phenotypic resistance of Mycobacterium tuberculosis. MATERIALS AND METHODS: We tested 67 M tuberculosis strains (26 drug resistant and 41 drug susceptible) using a method recommended for the LightCycler platform. The susceptibility testing was performed by the absolute concentration method. For rifampin resistance, two regions of the rpoB gene were targeted, while for identification of isoniazid resistance, we searched for mutations in katG and inhA genes. RESULTS: The sensitivity and specificity of this method for rapid detection of mutations for isoniazid resistance were 96% (95% CI: 88% to 100%) and 95% (95% CI: 89% to 100%), respectively. For detection of rifampin resistance, the sensitivity and specificity were 92% (95% CI: 81% to 100%) and 74% (95% CI: 61% to 87%), respectively. The main isoniazid resistance mechanism identified in our isolates is related to changes in the katG gene that encodes catalase. We found that for rifampin resistance the concordance between the predicted and observed phenotype was less than satisfactory. CONCLUSIONS: Using this method, the best accuracy for genotyping compared with phenotypic resistance testing was obtained for detecting isoniazid resistance mutations. Although real-time PCR assay may be a valuable diagnostic tool, it is not yet completely satisfactory for detection of drug resistance mutations in M tuberculosis.

The linear shade guide design of Vita 3D-master performs as well as the original design of the Vita 3D-master.

Visual tooth colour assessment by use of the Vita 3D-Master(®) (3D; Vita Zahnfabrik, Bad Säckingen, Germany) is well documented. To improve handling, a new linear arrangement of the shade tabs has been introduced (LG; Linearguide 3D-Master(®) ). The purpose of this study was to investigate whether the linear design has an effect on shade matching. Fifty-six students underwent identical, theoretical and practical training, by use of an Internet learning module [Toothguide Training Software(®) (TT)] and a standardised training programme [Toothguide Training Box(®) (TTB)]. Each student then matched 30 randomly chosen shade tabs presented in an intra-oral setting by a standardised device [Toothguide Check Box(®) (TCB)]; 15 matches were made using the 3D and 15 using the LG shade guide system, under a daylight lamp (840 matches for each guide). It was recorded to what extent the presented and selected shade tabs, or the lightness group of the tabs, matched, also the needed time for colour matching. The results showed that 35% of perfect matches were observed for the 3D and 32% for the LG. The lightness group was correct in 59% of cases for 3D and 56% for LG. Mean time needed for matching of tabs and lightness group was no different between groups (no significant difference for any assessment). Within the limitations of the study design, the colour assessment with regard to performance and time needed in shade matching was not different with the LG or the 3D. Therefore, the user should choose which shade tab arrangement is more applicable.

[An iliac-mesenteric-atrial shunt in the Budd-Chiari syndrome with extensive thrombosis of the inferior vena cava]. / Sunt iliaco-mezenteric-atrial pentru sindrom Budd-Chiari cu tromboza extensiva de vena cava inferioara.

A 34-year-old woman with no history of any liver diseases was admitted to the service for a Budd-Chiari syndrome and an extensive thrombosis of the inferior vena cava. The symptoms of the portal hypertension were present, with an enormous ascites, mild esophagogastric varices, associated with increased edema of the lower limbs, perineum and abdominal wall. The diagnosis was established by color Doppler ultrasonography, CT and cavography. An ilio-mesenterico-atrial shunt, between the right iliac vein, the superior mesenteric vein and the right atrium was successfully performed, transdiaphragmatically, by abdominally and right thoracic approach, using a 35 cm Dacron prosthesis. Postoperative evolution was very good. The color Doppler ultrasonography showed a good flow in the shunts. After 14 days ascites decreased over 70% and the inferior edema almost disappeared. 2 month later ascites decreased over 80%, the esophageal varices and edema disappeared completely. To our knowledge, this is the first case in the country, in which a patient underwent ilio-mesenterico-atrial shunt for Budd-Chiari syndrome and inferior vena cava extensive thrombosis.