Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its encoded protein promotes pre-mRNA splicing of many genes essential for development. Whereas individual phenotypic traits have previously been linked to erroneous splicing of SON target genes, the phenotypic spectrum and the pathogenicity of missense variants have not been further evaluated. We present the phenotypic abnormalities in 52 individuals, including 17 individuals who have not been reported before. In total, loss-of-function variants were detected in 49 individuals (de novo in 47, inheritance unknown in 2), and in 3, a missense variant was observed (2 de novo, 1 inheritance unknown). Phenotypic abnormalities, systematically collected and analyzed in Human Phenotype Ontology, were found in all organ systems. Significant inter-individual phenotypic variability was observed, even in individuals with the same recurrent variant (n = 13). SON haploinsufficiency was previously shown to lead to downregulation of downstream genes, contributing to specific phenotypic features. Similar functional analysis for one missense variant, however, suggests a different mechanism than for heterozygous loss-of-function. Although small in numbers and while pathogenicity of these variants is not certain, these data allow for speculation whether de novo missense variants cause ZTTK syndrome via another mechanism, or a separate overlapping syndrome. In conclusion, heterozygous loss-of-function variants in SON define a recognizable syndrome, ZTTK, associated with a broad, severe phenotypic spectrum, characterized by a large inter-individual variability. These observations provide essential information for affected individuals, parents, and healthcare professionals to ensure appropriate clinical management

Development of a novel biosensor for homocysteine determination

31st Congress of the Federation-of-European-Biochemical-Societies (FEBS) -- JUN 24-29, 2006 -- Istanbul, TURKEYWOS: 000238914002375Federat European Biochem So

The effect of air abrasion with two new bonding agents on composite repair

WOS: 000181412200010PubMed ID: 12670070This study evaluated the shear bond strength of repairs made with a composite (Herculite/Kerr) when two different surface treatment methods and two new generation bond materials were used. The bonding surfaces were prepared by sanding with 500-grit aluminum oxide sandpaper or air abrading with 25-micron aluminum oxide. Treated resin surfaces were acid etched, washed for one minute and air dried. Before adding the composite Herculite, either Optibond Solo (Kerr), Solobond M (Voco) bonding agent or no bonding agent (control group) was applied. The specimens were evaluated for shear bond strength after thermocycling. Fracture surfaces of some samples were also evaluated with SEM. Light microscope and SEM examination of fractured repair surfaces indicated mostly cohesive failure within the air-abraded group. The results showed that surface treatment with air abrasion plus Optibond Solo application had the highest shear bond strength

Evaluation of the impact of early childhood caries, traumatic dental injury, and malocclusion on oral health-Related quality of life for Turkish preschool children and families.

The aim of this study was to assess the impact of the presence of early childhood caries (ECC), traumatic dental injury (TDI), and malocclusion, as well as severe conditions, on the oral health-related quality of life (OHRQoL) of preschool children and families

Helicobacter Pylori eradication increases telomere length in gastric mucosa

PubMed ID: 23108080Background/Aims: Our purpose in this study was to analyze telomere length and telomerase activity before and after eradication treatment in gastric mucosa in patients positive for H. pylori. Methodology: There were two groups: a control group (n=17) and a study group (n=21). For H. pylori eradication, the patients were administrated proton pump inhibitor (PPI) + clarithromycin + amoxicillin or PPI + metronidazole + tetracycline + bismuth for 14 days. Telomere length was analyzed with RT-PCR and telomerase activity with PCR-ELISA on biopsy specimens from the antrum. The result p<0.05 was considered significant. Results: Prior to eradication, there was no significant difference between telomere lengths of the patient and control groups (2481.2±1823 and 2958.9±1345.7 bp, p=0.11, respectively). The telomere length of the study group became longer after eradication (before 2481.2±1823bp, after 3766.3±1608.8bp, p=0.01). Telomerase activity was not detected in either the patient or the control group. Conclusions: An increase in telomere length was observed with H. pylori eradication. This finding may indicate the importance of H. pylori eradication to avoid the development of gastric cancer. © H.G.E. Update Medical Publishing S.A

Attenuation of bleomycin induced lung fibrosis by erdosteine and inhibition of the inducible nitric oxide synthase

PubMed: 25869570Background and objectives: Despite advances in treatment modalities, the discovery of optimal medical therapies still remains a necessity in the management of pulmonary fibrosis. Material and methods: The experiments were performed in 35 adult Sprague Dawley rats, randomly allotted into one of five groups (n=7). The control group was treated with 1 ml/kg, 0.9 % saline; the BLM group was given a single dose of BLM (2.5 U/kg); the BLM+ER group was treated with ER (10 mg/kg/day po) for 14 days after BLM administration; the BLM+SMT group was treated with i.p injections of SMT (20 mg/kg/ day) for 14 days after BLM administration; the BLM+ER+SMT group was treated with ER and SMT for 14 days after BLM administration. At the end of day 14, the results of histopathological, biochemical, and immunohistochemical investigations were analyzed. Results: Serum TNF-?, nitrate/nitrite, and TBARS levels significantly increased in BLM group compared to control group (p < 0.001, p < 0.001 and p < 0.05 respectively). Lung tissue content of IL-6 was found to be lower in BLM+ER, BLM+SMT and BLM+ER+SMT groups compared to BLM group by immunhistochemical examinations (p < 0.01, p < 0.01 and p < 0.001, respectively). Similarly, the TNF-? reactions (p < 0.01 for each group) and NF-?B expressions were shown to be significantly different among the study groups (p < 0.05, p < 0.05 and p < 0.001, respectively). Conclusion: Based on our study, ER and SMT attenuate BLM-induced pulmonary fibrosis; the combination of two agents has a greater protective efficacy against fibrosis than one alone, reducing the inflammatory markers (Tab. 2, Fig. 2, Ref. 31). Text in PDF www.elis.sk

Diagnostic significance of cytomegalovirus DNA quantitation in gastrointestinal biopsies: comparison with histopathological data and blood cytomegalovirus DNA.

Objective

Attenuation of Bleomycin Induced Lung Fibrosis By Erdosteine and Inhibition of the Inducible Nitric Oxide Synthase in Rats

WOS: 000209838201124[No abstract available