Abstract. citrin is a liver-type aspartate/glutamate carrier (AGc) encoded by the gene SLc25A13. Two phenotypes for human citrin deficiency have been described, namely the adult-onset citrullinemia type II (cTLN2) and the neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). However, citrin deficiency currently remains a perplexing and poorly recognized disorder. In particular, description of postNIccd clinical presentations before cTLN2 onset is rather limited. Analysis of SLC25A13 mutations, identification of dysmorphic erythrocytes, hepatobiliary scintigraphic imaging and investigation of post-NIccd clinical presentations were performed in a citrin-deficient cohort comprised of 51 cases of children diagnosed with citrin deficiency in a Chinese pediatric center. Twelve SLc25A13 mutations were detected in this cohort, including the novel V411M and G283X mutations. Among the 51 citrin-deficient subjects, 7 cases had echinocytosis, which was associated with more severe biochemical abnormalities. delayed hepatic discharge and bile duct/bowel visualization were common scintigraphic findings. Moreover, 9 of the 34 post-NIccd cases demonstrated concurrent failure to thrive and dyslipidemia, constituting a clinical phenotype different from NIccd and cTLN2. The novel mutations, echinocytosis, hepatobiliary scintigraphic features and the novel clinical phenotype in this study expanded the genotypic and phenotypic spectrum of citrin deficiency, and challenge the traditionally-assumed 'apparently healthy' period after the NIccd state for this disease entity.
Background:
Plants with triterpenoid compounds in nature have various biological activities and are reported in many scientific works of literature. Triterpenoids are compounds that draw the attention of scientists because of their wide source, wide variety, high medicinal value, and anti-tumor properties. However, a lack of approach to understand their chemical structures has limited the fundamental comprehension of these compounds in cancer cell therapy.
Objective:
To seek anti-cancer activity of the structures of triterpenoid compounds and their derivatives, we summarized a number of plants and their derivatives that are a source of potential novel therapeutic anti-cancer agents.
Methods:
This work focuses on relevant 1036 patents and references that detail the structure of organic compounds and derivatives for the treatment of tumors.
Result:
Compared to tetracyclic triterpenoid, pentacyclic triterpenoid has contributed more to improve the autophagic signaling pathways of cancer cells.
Conclusion:
The heterogenous skeleton structure of triterpenoids impaired the programmed cell death signaling pathway in various cancers
Oral cavity has been taken as one of the major reservoirs for Helicobacter pylori, the bacteria responsible for gastric infection and cancers. Dentists are frequently exposed to saliva; thus, theoretically, they are at a higher risk for oral H. pylori infection. In the present study, to test this hypothesis and to find out the potential factors associated with the increased risk, a cross-sectional study was carried out on a large scale of dentists (N=90) and nondentist controls (N=110). By using nested polymerase chain reaction to amplify a specific DNA fragment of H. pylori, we found 7.27% of saliva samples from the nondentist group and 16.67% of saliva samples from the dentist group were oral H. pylori positive, and the difference between groups was statistically significant (χ2=4.292, p=0.038). Importantly, however, after stratifying enrolled subjects with factors which might interfere with the comparison of H. pylori detection rate between groups, we still observed a higher H. pylori frequency in the dentists than that in the controls in subgroups, including those with good individual hygiene, healthy lifestyle, and physical condition, as well as those living with families to be gastric disease free and not sharing meals with H. pylori-positive persons, respectively. Moreover, the frequency of clinical practice per week of the investigated dentists was closely associated with an oral H. pylori infection risk. Our data indicates that dentists are at a higher risk for H. pylori infection, and intensive attention needs to be paid on this issue.
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