Background
The role of miR‐626 in oral squamous cell carcinoma (OSCC) was investigated by targeting RASSF4.
Methods
The miR‐626 and RASSF4 expression was detected in normal oral mucosa or OSCC ...tissues and OSCC or normal cells. The methylation status of RASSF4 was analyzed using methylation‐specific polymerase chain reaction (PCR). The cytoplasmic/nuclear ratios (C/N ratios) targeted by miR‐626 were examined using microarray, followed by a dual‐luciferase reporter assay. The subcellular localization of RASSF4 and miR‐626 in OSCC cells was determined using RNA fluorescence in situ hybridization (FISH) and immunocytochemistry (ICC), respectively. Ca9‐22 and HSC2 cells were divided into mock, inhibitor NC, miR‐626 inhibitor, scramble, RASSF4 and miR‐626 mimic + RASSF4 groups, and then CCK‐8, Annexin V‐FITC/PI, wound healing, Transwell, qRT‐PCR and western blotting assays were performed.
Results
OSCC tissues and cells had increased miR‐626 expression and decreased RASSF4 expression. Patients with RASSF4 methylation had lower RASSF4 expression than those without methylation. In addition, a negative correlation between miR‐626 and RASSF4 was found in OSCC tissues, both of which were correlated with the pathological grade, pathological stage, lymph node metastasis and patient prognosis. MiR‐626 targeted RASSF4 in OSCC cells. Overexpressed RASSF4 inhibited the proliferation, invasion, migration and epithelial–mesenchymal transition (EMT) of OSCC cells, promoted cell apoptosis, and blocked the Wnt/β‐Catenin pathway, which was reversed by miR‐626 overexpression.
Conclusions
Inhibiting miR‐626 can regulate the biological characteristics of OSCC cells, including proliferation, invasion, migration, EMT and apoptosis, by targeting RASSF4, which may be related to the Wnt/β‐Catenin pathway.
In the field of surface plasmon-mediated photocatalysis, the coupling reactions of p-aminothiophenol (PATP) and p-nitrothiophenol (PNTP) to produce p,p′-dimercaptoazobenzene (DMAB) are the most ...widely investigated systems. However, a clear understanding of the structure–function relationship is still required. Here, we used tip-enhanced Raman spectroscopy (TERS) to study the coupling reactions of PATP and PNTP on well-defined Ag(111) and Au(111) surfaces using 632.8 and 532 nm lasers. On Au(111), the oxidative coupling of PATP can proceed under irradiation by a 632.8 nm laser, and the reductive coupling of PNTP can only occur under irradiation by a 532 nm laser. Neither wavelength of laser light can induce the coupling reactions of these two molecules on Ag(111). Density functional theory (DFT) was used to calculate the stable adsorption configurations of PATP and PNTP on Ag(111) and Au(111). Both the adsorption configurations of the two molecules on the surfaces and laser energies were, experimentally and theoretically, found to determine whether the coupling reactions can occur on different substrates. These results may help the rational design of photocatalysts with enhanced reactivity.
To characterize the genetic landscape of patients with suspected retinitis pigmentosa (RP) in the Chinese population.
Cohort study.
A total of 1243 patients of Chinese origin with clinically ...suspected RP and their available family members (n = 2701) were recruited.
All patients and available family members were screened using multigene panel testing (including 586 eye disease-associated genes), followed by clinical variant interpretation.
Diagnostic yield, the 17 most commonly implicated genes, age at onset, de novo mutations, and clinical usefulness of genetic testing.
Overall, 72.08% of patients received a molecular diagnosis, and the 17 top genes covered 75.63% of diagnostic cases. Diagnostic yield was higher among patients in the early-onset subgroup (≤5 years old, 79.58%) than in the childhood or adolescence-onset subgroup (6-16 years old, 73.74%) and late-onset subgroup (≥17 years old, 65.99%). Moreover, different genes associated with different onset ages and subgroups with different onset ages showed a diverse mutation spectrum. Only 11 de novo mutations (3.18%) were identified. Furthermore, 16.84% of the patients who received a molecular diagnosis had refinement of the initial clinical diagnoses, and the remaining 83.16% received definite genetic subtypes of RP.
This large cohort study provides population-based data of the genome landscape of patients with suspected RP in China. The diagnostic yield was significantly higher than that in previous studies, and the mutation spectrum is completely different with other populations. Genetic testing improves the chance to establish a precise diagnosis, identifies features not previously determined, and allows a more accurate refinement of risk to family members. Our results not only expand the existing genotypic spectrum but also serve as an efficient reference for the design of panel-based genetic diagnostic testing and genetic counseling for patients with suspected RP in China.
Anxious behaviors often occur in individuals who have experienced early adversity. Anxious behaviors can bring many hazards, such as social withdrawal, eating disorders, negative self-efficacy, ...self-injurious thoughts and behaviors, anxiety disorders, and even depression. Abnormal behavior are is closely related to changes in corresponding circuit functions in the brain. This study investigated the relationship between brain circuits and anxious behaviors in maternal-deprived rhesus monkey animal model, which mimic early adversity in human.
Twenty-five rhesus monkeys (Macaca mulatta) were grouped by two different rearing conditions: 11 normal control and mother-reared (MR) monkeys and 14 maternally deprived and peer-reared (MD) monkeys. After obtaining images of the brain areas with significant differences in maternal separation and normal control macaque function, the relationship between functional junction intensity and stereotypical behaviors was determined by correlation analysis.
The correlation analysis revealed that stereotypical behaviors were negatively correlated with the coupling between the left lateral amygdala subregion and the left inferior frontal gyrus in both MD and MR macaques.
This study suggests that early adversity-induced anxious behaviors are associated with changes in the strength of the amygdala-prefrontal connection. The normalization of the regions involved in the functional connection might reverse the behavioral abnormality. It provides a solid foundation for effective intervention in human early adversity.
This study suggests that early adversity-induced anxious behaviors are associated with changes in the strength of the amygdala-prefrontal connection. The higher the amygdala-prefrontal connection strength, the less stereotyped behaviors exhibited by monkeys experiencing early adversity. Thus, in the future, changing the strength of the amygdala-prefrontal connection may reverse the behavioral abnormalities of individuals who experience early adversity. This study provides a solid foundation for effective intervention in humans' early adversity.
To identify the mutational spectrum in a Chinese cohort with congenital cataracts.
Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were ...recruited for clinical examinations and panel-based next-generation sequencing, then classified into a cohort for further mutational analysis.
After recruitment (n = 442; 228 males and 214 females), 49.32% (218/442) of subjects received a clinical diagnosis of congenital cataracts, and 56.88% (124/218) of patients received a molecular diagnosis. Eighty-four distinct variants distributed among 43 different genes, including 42 previously reported variants and 42 novel variants, were detected, and 49 gene variants were causally associated with patient phenotypes; 27.37% of variants (23/84) were commonly detected in PAX6, GJA8 and CRYGD, and the three genes covered 33.06% of cases (41/124) with molecular diagnosis. The majority of genes were classified as genes involved in nonsyndromic congenital cataracts (19/43, 44.19%) and were responsible for 56.45% of cases (70/124). The majority of functional and nucleotide changes were missense variants (53/84, 63.10%) and substitution variants (74/84, 88.10%), respectively. Nine de novo variants were identified.
This study provides a reference for individualized genetic counseling and further extends the mutational spectrum of congenital cataracts.
Purpose
To report the clinical outcomes and evaluate the efficacy of a novel bubble ultra‐wide field viewing system for vitreoretinal surgery.
Design
Prospective, noncomparative, interventional case ...series.
Participants
One hundred and fifty‐one eyes of 146 consecutive patients with proliferative diabetic retinopathy (PDR), vitreous haemorrhage originating from retinal vein occlusion (VH‐RVO), epiretinal membrane (EM), macular hole (MH) or retinal detachment (RD) who underwent vitreoretinal surgery using the bubble ultra‐wide field viewing system were included.
Methods
A standard phacoemulsification was performed on each patient. Core humour and mid‐peripheral vitreous humour were removed using a planoconcave lens. A suitably sized bubble was infused to attach to the posterior capsule or the anterior chamber depending on the integrity of the posterior capsule. The planoconcave lens and the air bubble formed the wide‐angle viewing system, through which peripheral vitrectomy was performed.
Main Outcome Measures
Range of applications, field of view, model validation and complications were recorded.
Results
The new ultra‐wide field viewing system was successfully applied in all eyes, including 34 with PDR, 28 VH‐RVO, 28 EM, 25 MH and 36 RD. Peripheral vitrectomy, local or panretinal laser photocoagulation, and removal of the peripheral proliferative membrane were successfully performed while viewing through this system. Maximum peripheral retinal area observable during the procedure was positively correlated with pupil diameter. Model analysis results showed that when the pupil diameter was 6 mm, the maximum field of view was approximately 128.1‐ 148.0 degrees with this system. Of 142 eyes, the main intraoperative complication was iatrogenic retinal breaks (IRBs) in 8 eyes (5.3%) and posterior capsule injury by vitreous cutter during bubble removal in 6 eyes (4.2%). The postsurgery mean best‐corrected visual acuity (BCVA) (0.48 ± 0.39 logMAR) was significantly improved compared with the preoperative mean BCVA (1.60 ± 1.08 logMAR, p < 0.001). No incidents of postoperative choroidal detachment, secondary glaucoma or endophthalmitis were recorded.
Conclusions
For patients with lens excision or absence, vitreoretinal surgery can be successfully performed using the novel viewing system described here. The system is a safe, convenient and economical ultra‐wide field viewing system with a wide range of applications.
The family Hydnaceae (Cantharellales, Basidiomycota) is a group of fungi found worldwide which exhibit stichic nuclear division. The group is highly diverse in morphology, ecology, and phylogeny, and ...includes some edible species which are popular all over the world. Traditionally, Hydnaceae together with Cantharellaceae, Clavulinaceae and Sistotremataceae are four families in the Cantharellales. The four families were combined and redefined as “Hydnaceae”, however, a comprehensive phylogeny based on multiple-marker dataset for the entire Hydnaceae sensu stricto is still lacking and the delimitation is also unclear. We inferred Maximum Likelihood and Bayesian phylogenies for the family Hydnaceae from the data of five DNA regions: the large subunit of nuclear ribosomal RNA gene (nLSU), the internal transcribed spacer regions (ITS), the mitochondrial small subunit rDNA gene (mtSSU), the second largest subunit of RNA polymerase II (RPB2) and the translation elongation factor 1-alpha gene (TEF1). We also produced three more phylogenetic trees for Cantharellus based on 5.8S, nLSU, mtSSU, RPB2 and TEF1, Craterellus and Hydnum both based on the combined nLSU and ITS. This study has reproduced the status of Hydnaceae in the order Cantharellales, and phylogenetically confirmed seventeen genera in Hydnaceae. Twenty nine new taxa or synonyms are described, revealed, proposed, or reported, including eight new subgenera (Cantharellus subgenus Magnus, Craterellus subgenus Cariosi, subg. Craterellus, subg. Imperforati, subg. Lamelles, subg. Longibasidiosi, subg. Ovoidei, and Hydnum subgenus Brevispina); seventeen new species (Ca. laevihymeninus, Ca. magnus, Ca. subminor, Cr. badiogriseus, Cr. croceialbus, Cr. macrosporus, Cr. squamatus, H. brevispinum, H. flabellatum, H. flavidocanum, H. longibasidium, H. pallidocroceum, H. pallidomarginatum, H. sphaericum, H. tangerinum, H. tenuistipitum and H. ventricosum); two synonyms (Ca. anzutake and Ca. tuberculosporus as Ca. yunnanensis), and two newly recorded species (H. albomagnum and H. minum). The distinguishing characters of the new species and subgenera as well as their allied taxa are discussed in the notes which follow them. The delimitation and diversity in morphology, ecology, and phylogeny of Hydnaceae is discussed. Notes of seventeen genera which are phylogenetically accepted in Hydnaceae by this study and a key to the genera in Hydnaceae are provided.
Purpose
To explore an early, rapid and precise diagnosis of Stickler syndrome type I (STL1) and to enrich the spectrum of COL2A1 mutations in the Chinese population, which is poorly studied at ...present.
Methods
In the current study, we analysed 115 patients with high myopia by next‐generation sequencing and identified five STL1 patients from four unrelated Chinese families. The clinical features of all patients were reviewed in detail.
Results
Four variants of COL2A1 were identified, including two novel variants (c.1435delG and c.184delG) and two previously reported variants (c.1221+1G>A and c.1030C>T). Three variants caused premature termination codons which were common in STL1. In addition, we proposed a new diagnostic tactic to improve early diagnostics of STL1 in patients.
Conclusion
In this study, our findings expanded the spectrum of COL2A1 mutations with two novel variants and provided a new diagnostic tactic for reference, which was of great significance. Precise diagnosis on the basis of clinical manifestations and genetic testing will become the gold standard to diagnose inherited ocular disorders or syndromes in the future.
Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for ...STGD1. The current study aims at identifying the novel disease-related ABCA4 variants in Han Chinese families with STGD1 using next-generation sequencing (NGS).
In the present study, 12 unrelated Han Chinese families (19 males and 17 females) with STGD1 were tested by panel-based NGS. In order to capture the coding exons and the untranslated regions (UTRs) plus 30 bp of intronic flanking sequences of 792 genes, which were closely associated with usual ophthalmic genetic disease, we designed a customized panel, namely, Target_Eye_792_V2 chip. STGD1 patients were clinically diagnosed by experienced ophthalmologists. All the detected variants were filtered and analyzed through the public databases and in silico programs to assess potential pathogenicity.
Twenty-one ABCA4 mutant variants were detected in 12 unrelated Han Chinese families with STGD1, containing 14 missense, three splicing, two frameshift, one small deletion, and one nonsense variants. Base on the American College of Medical Genetics (ACMG) guidelines, 8 likely pathogenic and 13 pathogenic variants were determined. The functional consequences of these mutant variants were predicted through in silico programs. Of the 21 mutant variants in ABCA4, two novel coding variants c.3017G > A and c.5167 T > C and one novel null variant c.3051-1G > A were detected in three unrelated probands.
By panel-based NGS, 21 ABCA4 variants were confirmed in 12 unrelated Han Chinese families. Among them, 3 novel mutant variants were found, which further expanded the ABCA4 mutation spectrum in STGD1 patients.
The similar floatabilities of calcium minerals and the huge difference between scheelite and wolframite have resulted in difficulties during their separation by flotation in Shizhuyuan Mine. In this ...study, novel collectors, lead complexes of benzohydroxamic acid（Pb-BHA）,were introduced to modify the surface properties of scheelite and wolframite, thereby effectively and selectively improving floatability. The Pb-BHA complexes are found to be selective for the separation of scheelite and calcium minerals with little use of depressants and enable the synchronous flotation of scheelite and wolframite.Hence, a novel flotation process was developed for the recovery of tungsten minerals. The process is simplified greatly, and the recovery is improved by almost 10%.Removing or decreasing the amount of water glass contributes to the improvement of tungsten and fluorite recovery and the circulation of water and reagents, which benefits the environment.
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