[A Family with Congenital Dysfibrinogenemia and Blood Transfusion].

OBJECTIVE: To investigate a family with congenital dysfibrinogenemia, and analyze the risk of hemorrhage and thrombosis and blood transfusion strategies. METHODS: Prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) of the proband and her family members were detected by automatic coagulometer, fibrinogen (Fg) activity and antigen were detected by Clauss method and PT algorithm respectively. Meanwhile, thromboelastometry was analyzed for proband and her family members. Then, peripheral blood samples of the proband and her family members were collected, and all exons of FGA, FGB and FGG and their flanks were amplified by PCR and sequenced to search for gene mutations. RESULTS: The proband had normal APTT and PT, slightly prolonged TT, reduced level of Fg activity (Clauss method). The Fg of the proband's aunt, son and daughter all decreased to varying degrees. The results of thromboelastogram indicated that Fg function of the proband and her family members (except her son) was basically normal. Gene analysis showed that there were 6233 G/A (p.AαArg35His) heterozygous mutations in exon 2 of FGA gene in the proband, her children and aunt. In addition, 2 polymorphic loci were found in the family, they were FGA gene g.9308A/G (p.AαThr331Ala) and FGB gene g.12628G/A (p.BßArg478Iys) polymorphism, respectively. The proband was injected with 10 units of cryoprecipitate 2 hours before delivery to prevent bleeding, and no obvious bleeding occurred during and after delivery. CONCLUSION: Heterozygous mutation of 6233G/A (p.AαArg35His) of FGA gene is the biogenetic basis of the disease in this family with congenital dysfibrinogenemia.

Mn3+/Mn4+ ion-doped carbon dots as fenton-like catalysts for fluorescence dual-signal detection of dopamine.

Carbon dots (CDs), a new zero-dimensional material, have ignited a revolution in the fields of sensing, bioimaging, and biomedicine. However, the difficulty of preparing CDs with Fenton-like catalytic properties has seriously hindered their application in the diagnosis of oxidation/reduction biomolecules or metal ions. Here, an innovative method was successfully established to synthesize Mn3+/Mn4+ ion-doped blue-green fluorescent CDs with Fenton-like catalytic properties using manganese acetate as the manganese source. Specifically, the CDs prepared here were equipped with functional groups of -COOH, NH2, C=O, and Mn-O, offering the possibility to function as a fluorescence sensor. More importantly, the introduction of manganese acetate resulted in the preparation of CDs with Fenton-like catalytic properties, and the dual-signal fluorescence detection of dopamine (DA) was realized with linear ranges of 100-275 nM and 325-525 nM, and the detection limits were 3 and 12 nM, respectively. In addition, due to the Fenton-like catalytic activity of Mn3+/Mn4+ ion-doped CDs, the material has broad application prospects in the detection of oxidation/reduction biomolecules or metal ions related to disease diagnosis and prevention.

Highly Fluorescent Collagen-Based Quantum Dots as an Efficient Interlinkage in the 2D Perovskite Bulk for Improved Solar Cells.

A design-inexpensive, effective, and easy-to-prepare additive in the large-scale preparation of perovskite solar cells (PSCs) is urgently desired to alleviate the future energy crisis. Carbon-based quantum dots have demonstrated novel nanomaterials with excellent chemical stability and high electrical conductivity, which exhibit great potential as additives for perovskite optoelectronics. Herein, we designed novel highly fluorescent collagen-based quantum dots (Col-QDs) and thoroughly studied the micromorphological characteristics, photoluminescence properties, and the states of surface-functionalized groups on the Col-QDs. It is found that the introduction of Col-QDs in the two-dimensional (2D) perovskite precursor can be further confirmed as an efficient interlinkage via Col-Pb bands in the pure 2D perovskite heterojunction, which significantly improves the crystallinity, orientation, and interlayer coupling of perovskite crystal plates, as observed by grazing incidence X-ray diffraction (GIWAXS) and X-ray photoelectron spectroscopy (XPS). Finally, the champion Col-QD additive can efficiently modulate the photovoltaic performance of pure 2D PSCs with a significant increase of photoelectric conversion efficiency (PCE) from 8.18% up to 10.45%, which ranks among the best efficiencies of highly pure 2D PSCs. These results provide a facile and feasible approach to modulate the interlayer interaction of pure 2D perovskites and further improve their output of PSCs, which would further facilitate the burgeoning applications of the Col-QDs in various perovskite-based optical-related fields.

Predictive Values of the Selected Inflammatory Indexes in Colon Cancer.

PURPOSE: Ample evidence has revealed that the lymphocyte-to-monocyte ratio (LMR), albumin-to-globulin ratio (AGR), and mean platelet volume (MPV) are cancer-related inflammatory markers. The present study aimed to combine these indicators to better assess the progression of colon cancer. METHODS: This retrospective study enrolled 251 patients with colon cancer, 171 patients with benign colon diseases, and 187 healthy control subjects. The receiver operating characteristic curve and area under the curve (AUC) were used to determine the diagnostic values of the selected inflammatory index. RESULTS: The levels of LMR, AGR, and MPV were decreased in the colon cancer group compared with the healthy control and benign colon disease groups. The LMR, AGR, and MPV were all correlated with tumor size. Moreover, LMR and AGR was associated with lymph node metastasis and clinical stage, AGR was related to distant metastasis. Both the LMR (P = .030) and AGR (P = .005) were negatively correlated with the concentration of carcinoembryonic antigen (CEA). The AUC value of MPV combined with CEA had a good diagnostic ability for distinguishing colon cancer cases (AUC = .950) and patients with benign colon diseases (AUC = .886) from controls. Meanwhile, the combination of LMR or AGR with CEA could enhance larger AUC (.746 for LMR + CEA, .737 for AGR + CEA) than CEA, LMR, or AGR alone in detecting colon cancer from benign colon diseases. CONCLUSIONS: CEA combined with the LMR, AGR, or MPV may be used as better blood-based biomarkers in the progression of colon cancer patients.

Association of polymorphisms in PIN1 with progression and susceptibility in gastric cancer.

Background: High expression of PIN1 is associated with gastric cancer progression and risk. Patients & methods: Two single-nucleotide polymorphisms in PIN1, rs2233678 and rs2233679, were examined in gastric cancer patients using PCR-restriction fragment length polymorphism. Results: The rs2233678 GC genotype and C alleles correlated with a decreased susceptibility to gastric cancer. The stratification analysis indicated that the rs2233678 GC genotype was inversely related to gastric cancer risk in never smokers, never drinkers and patients with stage I/II disease. Males and ever drinkers carrying the rs2233679 CT genotype had a mildly elevated susceptibility to gastric cancer. Conclusion: The PIN1 single-nucelotide polymorphisms rs2233678 and rs2233679 correlate with the risk of gastric cancer.

PIN1 is associated with gastric cancer progression and risk. Genetic polymorphisms, the most common type of genetic variation, are important in cancer susceptibility. Hence we examined the relationship between two single-nucleotide polymorphisms (rs2233678 and rs2233679) in PIN1 and gastric cancer patients. We found that the rs2233678 GC genotype and C alleles correlated with a decreased susceptibility to gastric cancer, and the stratification analysis indicated that the rs2233678 GC genotype was inversely related to gastric cancer risk in never smokers, never drinkers and patients with stage I/II disease. Males and ever drinkers carrying the rs2233679 CT genotype had a mildly elevated susceptibility to gastric cancer. The PIN1 polymorphisms rs2233678 and rs2233679 may be associated with gastric cancer risk.

Energy Saving and Energy Generation Smart Window with Active Control and Antifreezing Functions.

Windows are the least energy efficient part of the buildings, as building accounts for 40% of global energy consumption. Traditional smart windows can only regulate solar transmission, while all the solar energy on the window is wasted. Here, for the first time, the authors demonstrate an energy saving and energy generation integrated smart window (ESEG smart window) in a simple way by combining louver structure solar cell, thermotropic hydrogel, and indium tin oxides (ITO) glass. The ESEG smart window can achieve excellent optical properties with ≈90% luminous transmission and ≈54% solar modulation, which endows excellent energy saving performance. The outstanding photoelectric conversion efficiency (18.24%) of silicon solar cells with louver structure gives the smart window excellent energy generation ability, which is more than 100% higher than previously reported energy generation smart window. In addition, the solar cell can provide electricity to for ITO glass to turn the transmittance of hydrogel actively, as well as the effect of antifreezing. This work offers an insight into the design and preparation together with a disruptive strategy of easy fabrication, good uniformity, and scalability, which opens a new avenue to realize energy storage, energy saving, active control, and antifreezing integration in one device.

Rare blood donors screening by multiplex PCR methods in Chinese Zhuang and Dong population and pedigree analysis.

There are little data available regarding the frequencies of the blood group antigens other than ABO and RhD in the Chinese Zhuang and Dong population. Knowledge of the antigen frequencies is important to assess risk of antibody formation and to guide the probability of finding antigen-negative donor blood, which is especially useful when blood is required for a patient who has multiple red cell alloantibodies. The aim of this study is sought to massively screen for rare blood donors with antigen-negative (e.g. Fy (a-), s-, k-, Di (b-) and Js (b-)) in an ethnic Zhuang and Dong population of China, for providing precious rare blood type materials which can be used to improve the capability of compatible infusion and reduce the transfusion reactions. Finally, inheritance of the Fy (a-), s-, k-, Di (b-) and Js (b-) phenotypes was investigated by pedigree analysis. We screened for Fy (a-), s-, k-, Di (b-) and Js (b-) phenotypes in blood donors by multiplex polymerase chain reaction. The rare phenotypes Fy (a-), s-, k-, Di (b-) and Js (b-) were verified by flow cytometry and sequencing analysis. The results indicated that there are five Fy (a-), three s (-), two Di (b-) in 4490 Zhuang random samples and three Fy (a-) in 1927 Dong random samples. In conclusion, this study is the first small step to create a rare donor data bank for Chinese Zhuang and Dong population and to prepare antigen negative compatible blood to patients with multiple alloantibodies.

[Application of multiplex PCR for the screening of genotyping system for the rare blood groups Fy(a-), s-,k-,Di(b-) and Js(b-)].

OBJECTIVE: To screen rare blood groups Fy(a-), s-, k-, Di(b-) and Js(b-) in an ethnic Zhuang population. METHODS: Sequence-specific primers were designed based on single nucleotide polymorphism (SNP) sites of blood group antigens Fy(b) and s. A specific multiplex PCR system I was established. Multiplex PCR system II was applied to detect alleles antigens Di(b), k, Js(b)1910 and Js(b) 2019 at the same time. The two systems was were used to screen for rare blood group antigens in 4490 randomly selected healthy donors of Guangxi Zhuang ethnic origin. RESULTS: We successfully made the multiplex PCR system I. We detected the rare blood group antigens using the two PCR system. There are five Fy(a-), three s(-), two Di(b-) in 4490 Guangxi zhuang random samples. The multiplex PCR system I has achieved good accuracy and stability. With multiplex PCR systems I and II, 4490 samples were screened. Five Fy(a-), three s(-) and two Di(b-) samples were discovered. CONCLUSION: Multiplex PCR is an effective methods, which can be used for high throughput screening of rare blood groups. The rare blood types of Guangxi Zhuang ethnic origin obtained through the screening can provide valuable information for compatible blood transfusion. Through screening we obtained precious rare blood type materials which can be used to improve the capability of compatible infusion and reduce the transfusion reactions.