Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:4.1.1.6 (CAD)
 4,420 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Surface roughness is one of the most influential criteria affecting the durability and strength of the adhesive restorative materials to the dentine. This study was carried out to investigate the roughness of the dentine surface after some of the modalities proposed for its treatment prior to application of the DBA. Dentine surface roughness of the sixty teeth divided into 12 groups were tested where the dentine surfaces were denuded and were brought to a similar 600 grit surface roughness then different treatments were carried out using H2O2, CO2 gas laser at 30 and 48 J/cm2 energy densities, EDTA and polyacrylic acid treatments. The dentine surface roughness was determined using a profilometer and the results were digitized and plotted using an AUTO-CAD software and Rolland plotter to compare the effects of the different treatments on the dentine surface roughness of the tested samples. Results revealed that the laser treatment left smooth dentine surface and added further evidences to the simplicity and reliability of the conventional use of EDTA and the polyacrylic acid according to the type of adhesive to be used.
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PMID:Dentine roughness after different surface treatments. 829 36

Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. The study describes the diagnostic workflow for HA, based on the development of two consecutive versions of a targeted-NGS panel, including 34 and 71 genes, respectively. Seventy-four probands from 62 unrelated families were investigated. Our study includes the most comprehensive gene set for these anemias and the largest cohort of patients described so far. We obtained an overall diagnostic yield of 64.9%. Despite 54.2% of cases showed conclusive diagnosis fitting well to the clinical suspicion, the multi-gene analysis modified the original clinical diagnosis in 45.8% of patients (nonmatched phenotype-genotype). Of note, 81.8% of nonmatched patients were clinically suspected to suffer from CDA. Particularly, 45.5% of the probands originally classified as CDA exhibited a conclusive diagnosis of chronic anemia due to enzymatic defects, mainly due to mutations in PKLR gene. Interestingly, we also identified a syndromic CDA patient with mild anemia and epilepsy, showing a homozygous mutation in CAD gene, recently associated to early infantile epileptic encephalopathy-50 and CDA-like anemia. Finally, we described a patient showing marked iron overload due to the coinheritance of PIEZO1 and SEC23B mutations, demonstrating that the multi-gene approach is valuable not only for achieving a correct and definitive diagnosis, but also for guiding treatment.
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PMID:Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. 2939 46