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Objective:To investigate the quality of life in children with McCune-Albright syndrome (MAS) and its influencing factors, so as to provide scientific basis for improving their quality of life.Methods:The clinical data of 31 children with MAS diagnosed (MAS group) and followed up in Henan Children′s Hospital from June 2015 to December 2021 were retrospectively analyzed.During the same period, 37 healthy age and sex-matched children at a ratio of 1∶1 were recruited as healthy control group.The children′s Quality of Life Universal Core Scale (PedsQL?4.0) was used for the investigation and comparative analysis.Statistical analysis was performed using the independent sample t test, Chi- square test and multiple regression analysis. Results:Compared with the healthy control group, the physiological function ( t=2.092, P<0.05), emotional function ( t=2.373, P<0.05) and total score ( t=2.360, P<0.05) of MAS group significantly decreased.Multiple regression analysis showed that physiological function was negatively correlated with the annual number of vaginal bleeding ( t=-2.367, P<0.05) and the age of first fracture ( t=-2.606, P<0.05). Social function was negatively correlated with the number of fractures ( t=-2.481, P<0.05). Conclusions:The overall quality of life of MAS children is low, especially the quality of physiological function and emotional function.The annual number of vaginal bleedings, the age of the first fracture and the number of fractures are influencing factors for the reduction of the quality of life of children with MAS.
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Background Changes in cognitive function exist before the onset of clinical Parkinson's disease. However, studies on association between cognitive function and prodromal Parkinson's disease (pPD) are limited. Objective To estimate probability of pPD and assess its association with global and domain cognitive function in Chinese elders. Methods Data were drawn from the Community-based Cohort Study on Nervous System Disease 2018 (baseline) and 2020 (follow-up). We selected 3911 residents aged 55 and above who participated the two waves, without Alzheimer's disease and Parkinson's disease, and with completed information on demographics, disease history, cognitive function test, and risk factors of Parkinson's disease. Cognitive function was assessed using the Chinese version of Montreal Cognitive Assessment Scale. Calculation of probability of pPD and assessment of possible (probability between 30% and <80%) or probable (probability ≥80%) pPD were performed according to the criteria published by the International Parkinson and Movement Disorder Society. Multiple linear regression model was employed to analyze the association between baseline cognitive function and follow-up probability of pPD. Results The medians of scores of baseline global cognitive function and cognitive domains in terms of memory, execution, visuospatial function, language, attention, and orientation were 23, 12, 9, 6, 5, 14, and 6, respectively. The median of follow-up probability of pPD was 0.87%, and the proportion of participants with possible or probable pPD was 0.4%. The differences in the distribution of follow-up probability of pPD were significant in groups by baseline global cognitive score quartiles (χ2=21.68, P<0.001). A higher baseline global cognitive score was considerably related to a lower follow-up probability of pPD, b(95%CI)=0.994(0.988~0.999), P=0.040. After adjusting for selected confounders, the results of multiple linear regression analyses showed that the probability of pPD in the highest quartile group was decreased by 10.7% (b=0.893, 95%CI: 0.794-0.992, P=0.034) relative to the lowest quartile group, and the trend was significant (trend P=0.031). Higher baseline index scores of execution, attention, and orientation were highly related to a lower follow-up probability of pPD (all P<0.05). Conclusion Declines in global cognitive function and cognitive domains of execution, attention, and orientation may associate with a higher probability of pPD in middle-aged and elderly population, which suggests the significance of cognitive intervention in early stage for pPD prevention.
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AIM: To compare the efficacy of 25-gauge(25G)vitrectomy combined with intraocular lens transciliary sulcus scleral suture fixation and sutureless scleral tunnel interlamellar fixation in the treatment of complete lens dislocation.METHODS: Retrospective case-control study. A total of 40 patients(40 eyes)diagnosed with complete lens luxation in the vitreous cavity in our hospital from May 2015 to September 2021 were selected, among which 21 eyes(suture group)underwent 25G vitrectomy combined with intraocular lens fixation via ciliary sulci scleral suture, and 19 eyes(sutureless group)underwent 25G vitrectomy combined with interlamellar scleral tunnel fixation of intraocular lens. The patients in both groups were followed up until 3mo after surgery to observe the operative time, best corrected visual acuity(BCVA), corneal endothelial cell count(CECC), central corneal thickness(CCT)and postoperative complications.RESULTS: The operation time was significantly shorter in the sutureless group than in the suture group(31.79±6.01min vs. 45.38±8.04min, P<0.001). BCVA in both groups was significantly improved after surgery(all P<0.05), and the BCVA(LogMAR)at 1wk after operation in the sutureless group was significantly better than that in the suture group(0.32±0.14 vs. 0.57±0.25, P<0.001). At 3mo after surgery, CECC in both groups was lower than that before surgery(all P<0.01). The CCT at 1wk after operation in the suture group was greater than that before operation and at 3mo after operation(all P<0.01), and there was no significant change in CCT before and after surgery in the sutureless group. During follow-up period, the total complication rate in the sutureless group was lower than that in the suture group(26% vs. 38%, P>0.05).CONCLUSION: 25G vitrectomy combined with intraocular lens sutureless scleral tunnel interlamellar fixation in the treatment of complete lens luxation has shorter operation time, faster postoperative visual acuity improvement and fewer postoperative complications.
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Background Phenolic compounds may adversely affect human health, but the current relevant studies are mostly limited to the impact of single phenolic compound exposure on human health, and there is still a lack of studies on the population-based association between combined exposure to multiple common phenolic compounds and dyslipidemia. Objective To explore the association of phenolic compound combined exposure and dyslipidemia based on principal component analysis-random forest (PCA-RF) strategy. Methods The data were from the National Health and Nutrition Examination Survey (2013–2016). A total of 1301 adult residents aged ≥ 20 years with complete information on demographics and lifestyle, urine phenol concentrations (bisphenol A, bisphenol F, bisphenol S, triclocarban, benzophenone, and triclosan), and serum concentrations of total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) were included in this study. The concentrations of six urinary phenolic compounds were determined by solid phase extraction coupled with high performance liquid chromatography and tandem mass spectrometry, and the lipid indicators were determined by enzymatic methods. Principal component analysis combined with random forest model was used for model construction. First, principal component analysis was performed on 18 original variables including 6 phenolic compounds and 12 basic characteristic indicators, and then random forest model was established with dyslipidemia and its four evaluation indicators as dependent variables and the extracted principal components as independent variables, respectively. Results The PCA-RF analysis showed that bisphenol A, bisphenol F, and benzophenone may be important factors for dyslipidemia in the study subjects; bisphenol A, bisphenol F, and triclosan may be important factors for TC level in the study subjects; bisphenol A, bisphenol F, triclocarban, and benzophenone may be important factors for TG level in the study subjects; bisphenol A may be an important factor for LDL-C level in the study subjects; bisphenol F and benzophenone may be important factors for HDL-C level in the study subjects. Conclusion Phenolic compound exposure may be an important risk factor for the development of dyslipidemia. PCA-RF strategy can be effectively used to explore the association between phenolic compound exposure and dyslipidemia in the population.
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Cell transformation induced by epidermal growth factor (EGF) and 12-O-tetradecanoylphorbol-13-acetate (TPA) is a critical event in cancer initiation and progression, and understanding the underlying mechanisms is essential for the development of new therapeutic strategies. Licorice extract contains various bioactive compounds, which have been reported to have anticancer and anti-inflammatory effects. This study investigated the cancer preventive efficacy of licochalcone D (LicoD), a chalcone derivative in licorice extract, in EGF and TPA-induced transformed skin keratinocyte cells. LicoD effectively suppressed EGF-induced cell proliferation and anchorage-independent colony growth. EGF and TPA promoted the S phase of cell cycle, while LicoD treatment caused G1 phase arrest and down-regulated cyclin D1 and up-regulated p21 expression associated with the G1 phase. LicoD also induced apoptosis and increased apoptosis-related proteins such as cleaved-caspase-3, cleaved-caspase-7, and Bax (Bcl-2-associated X protein). We further investigated the effect of LicoD on the AKT signaling pathway involved in various cellular processes and found decreased p-AKT, p-GSK3β, and p-NFκB expression. Treatment with MK-2206, an AKT pharmacological inhibitor, suppressed EGF-induced cell proliferation and transformed colony growth. In conclusion, this study demonstrated the potential of LicoD as a preventive agent for skin carcinogenesis.
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Objective:To evaluate the clinical efficacy of omalizumab in the treatment of patients with chronic spontaneous urticaria accompanied by other allergic diseases.Methods:Clinical data were retrospectively collected from 74 patients, who were clinically diagnosed with chronic spontaneous urticaria and other allergic diseases, and received subcutaneous injections of omalizumab in the Department of Allergy, Tianjin Medical University General Hospital from June 2020 to September 2022. Types of allergic diseases, serum total IgE (tIgE) and allergen-specific IgE (sIgE) levels before treatment, treatment outcomes and adverse drug reactions were analyzed. Differences before and after treatment were assessed using paired t-test and Wilcoxon signed-rank sum test. Results:A total of 74 patients with chronic spontaneous urticaria were involved, including 29 with complicated allergic asthma (39.2%) , 61 with complicated allergic rhinitis (82.4%) , 6 with complicated atopic dermatitis (8.1%) , and 4 with food allergy (5.4%) . Before treatment, elevated serum tIgE or sIgE levels were observed in 44 (59.5%) patients. After the first omalizumab treatment, the urticaria control test (UCT) score significantly increased compared with that before treatment (16.00 [13.0.0, 16.00] vs. 6.00 [5.75, 9.00], Z = 7.39, P < 0.001) ; after 4 sessions of the omalizumab treatment, 82.5% (33/40) of the patients achieved complete control of urticaria symptoms or showed complete response. After omalizumab treatment, asthmatic attacks were decreased in 29 patients with allergic asthma, and asthma control test (ACT) scores significantly increased compared with those before treatment (21.07 ± 2.88 points [after the first treatment] vs. 18.48 ± 3.20 points [before treatment], t = 8.87, P < 0.001) ; among 61 patients with allergic rhinitis, global rhinitis symptom-based visual analog scale (VAS) scores (before treatment: 5.89 ± 1.29 points; after the first treatment: 3.28 ±1.46 points) and rhinoconjunctivitis quality of life questionnaire (RQLQ) scores (before treatment: 60.10 ± 20.53 points; after the first treatment: 37.26 ± 18.83 points) both significantly decreased after the first treatment ( t = 15.04, 10.01, respectively, both P < 0.001) , and rhinitis symptoms were relieved at the same time; skin itching was relieved in 4 patients with atopic dermatitis, and allergic symptoms after contact with food allergens were also relieved in the 2 patients with food allergy after omalizumab treatment. During the treatment, only 1 patient experienced erythematous swelling, induration, and pain at the injection site. Conclusions:In the treatment of chronic spontaneous urticaria accompanied by allergic diseases, the use of omalizumab not only effectively improved urticaria symptoms, but also well controlled allergic diseases, with a good safety profile. Multiple benefits may be achieved by the use of omalizumabin in patients with chronic spontaneous urticaria accompanied by other allergic diseases.
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Objective:To investigate the clinical and molecular characteristics of 11β-hydroxylase deficiency(11β-OHD) to improve the understanding of this disorder.Methods:The clinical manifestation, hormone level, imaging examination, characteristics of gene variation and follow-up of five patients with 11β-OHD diagnosed in Henan Children′s Hospital from 2016 to 2021 were carefully reviewed.Results:Among the 5 children, 3 were male and 2 were female, all without positive family history. The age at diagnosis was 1 year 5 months to 7 years(average 3 years and 9 months), and the bone age was 3 years 6 months to 16 years(average 10 years and 3 months). Two cases were misdiagnosed as 21-hydroxylase deficiency(21-OHD) and treated with long-term mineralocorticoids. Three patients presented with hypertension and one patient had testicular adrenal rest tumor. Adrenal CT showed bilateral adrenal hyperplasia in five patients. ACTH, 17-hydroxyprogesterone, testosterone, and androstenedione levels were increased in 5 children, and hypokalemia occurred in 1 patient. One patient carried homozygous novel missense variant, and four patients had compound heterozygous variants. Four patients carried missence mutations, two patients had deletion and one patient harbored a chimeric CYP11B2 exon1-6/CYP11B1 exon7-9. Three novel CYP11B1 mutations, including c. 1385T>C(p.L462P), c.64C>T(p.Q22*)and c. 1354G>A(p.G452R) were identified. The final height of 2 male children were 164.4 cm and 150.2 cm, respectively, and the related hormone levels of the other 3 children were normal.Conclusion:11β-OHD is easily misdiagnosed, leading to severe impairment of final height. CYP11B1 gene variation is complex and diverse, which requires variety of gene detection methods.
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BACKGROUND@#The extracellular matrix (ECM) has many functions, such as segregating tissues, providing support, and regulating intercellular communication. Cartilage-derived ECM (CECM) can be prepared via consecutive processes of chemical decellularization and enzyme treatment. The purpose of this study was to improve and treat osteoarthritis (OA) using porcine knee articular CECM. @*METHODS@#We assessed the rheological characteristics and pH of CECM solutions. Furthermore, we determined the effects of CECM on cell proliferation and cytotoxicity in the chondrocytes of New Zealand rabbits. The inhibitory effect of CECM on tumor necrosis factor (TNF)-a-induced cellular apoptosis was assessed using New Zealand rabbit chondrocytes and human synoviocytes. Finally, we examined the in vivo effects of CECM on inflammation control and cartilage degradation in an experimental OA-induced rat model. The rat model of OA was established by injecting monosodium iodoacetate into the intra-articular knee joint. The rats were then injected with CECM solution. Inflammation control and cartilage degradation were assessed by measuring the serum levels of proinflammatory cytokines and C-telopeptide of type II collagen and performing a histomorphological analysis. @*RESULTS@#CECM was found to be biocompatible and non-immunogenic, and could improve cell proliferation without inducing a toxic reaction. CECM significantly reduced cellular apoptosis due to TNF-a, significantly improved the survival of cells in inflammatory environments, and exerted anti-inflammatory effects. @*CONCLUSION@#Our findings suggest that CECM is an appropriate injectable material that mediates OA-induced inflammation.
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Trehalase is widely used in industrial fermentation, food, medicine and other fields. There is a lack of industrial varieties of trehalase with excellent performance in China. Moreover, the applied research on trehalase was not well conducted. In this study, a strain of Pectobacterium cypripedii was screened from nature, and the gene PCTre encoding an acidic trehalase was cloned and expressed in E. coli BL21(DE3). The highest enzyme activity reached 4130 U/mL after fermenting in a 5 L fermenter for 28 h. The enzymatic properties study showed that PCTre hydrolyzed trehalose specifically. The optimum pH and temperature were 5.5 and 35 ℃, respectively. 80% of the enzyme activity was retained after being treated at pH 4.0, 4.5, and 5.0 for 8 h, showing good acid tolerance. Moreover, it has good tolerance to organic solvents, 60% enzyme activity was retained after being treated with 20% (V/V) ethanol solution for 24 h. Furthermore, trehalose could be completely hydrolyzed within 16 h in a simulated fermentation system containing 20% (V/V) ethanol and 7.5% trehalose, with 500 U/L PCTre added. This indicated a good application potential for industrial ethanol fermentation.
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Trehalase/metabolism , Trehalose/metabolism , Escherichia coli/metabolism , Ethanol/metabolism , Cloning, MolecularABSTRACT
Ferroptosis， a new type of iron-dependent programmed cell death， is related to multiple pathways such as glutathione/glutathione peroxidase 4， iron metabolism， lipid metabolism， and iron autophagy， and plays an important part in the occurrence and development of many diseases， such as tumor， cerebral ischemia， and Parkinson's disease. Ferroptosis is a double-edged sword as it can eliminate pathological cells （such as tumor cells） but long-term ferroptosis may cause or aggravate other disorders related to abnormal lipid metabolism and iron metabolism. Regulating the balance between cell proliferation and ferroptosis may be an important target for drug intervention in diseases. The Yin-yang theory is one of the foundational principles of traditional Chinese medicine （TCM）， which is used to explain the physiological functions and pathological changes of human body and to guide the diagnosis and prevention of disease and health care. The balance of cell proliferation and programmed death is essentially the balance of Yin and Yang at the cellular level， which is governed and regulated by the law of balance. TCM intervenes in ferroptosis by promoting ferroptosis of tumor cells （damaging the excess） and inhibiting ferroptosis of other diseases （compensating the deficiency）， which is similar to the treatment principle of adjusting Yin and Yang. On this basis， this article aims to use the Yin-yang theory to clarify the relationship between TCM promoting ferroptosis and inhibiting ferroptosis， which is expected to lay a basis for the modern application of Yin-yang theory and provide new targets for TCM treatment.
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ObjectiveThe type 2C protein phosphatases （PP2C） are involved in numerous plant signal transduction pathways. They mainly participate in plant stress response and regulate second metabolites biosynthesis via negatively regulating MAPK signaling pathway. Herein，we were to identify and analyze PP2C （CsPP2C） gene family from hemp genome，in hope of providing comprehensive insights for studying CsPP2C function during the development of hemp. MethodMolecular Evolutionary Genetics Analysis （MAGA）-X was used to construct phylogenetic tree. Expert Protein Analysis System （ExPASy），WoLF PSORT，Multiple EM for Motif Elicitation （MEME），Batch Conserved Domain Search （Batch-CD-Search），PlantCare，and TBtools were used，respectively，to predict CsPP2C physicochemical properties，subcellular localization，conserved motifs，protein structure，cis-element in promoter and collinearity with Arabidopsis PP2C. Cannabis sativa transcriptome and Real-time polymerase chain reaction（Real-time PCR） were used to analyze and verify gene expressions，respectively. ResultFifty-two CsPP2C with conserved domains were identified from the entire genome of hemp，encoding proteins ranging from 244 to 1 089 aa in length and with molecular weights ranging from 26.76 to 122.53 kDa. Those genes were mainly distributed in the nucleus，cytoplasm and chloroplast. The 47 CsPP2C were divided into 10 subfamilies，and the remaining 5 were not clustered. Seven pairs of homologous genes between hemp and Arabidopsis thaliana were identified according to collinear analysis. The light-responsive elements and abscisic acid elements are most abundant in the prediction. The gene expression heat map showed varied expression pattern of CsPP2C in different tissues. Real-time PCR results of three CsPP2C were consistent with transcriptome data. Moreover，alternative splicing analysis showed that some CsPP2C had alternative-splicing genes during evolution. ConclusionWe predicted and analyzed CsPP2C gene family in genomic scale and showed that CsPP2C are involved in many biological processes，whereby provides foundation for CsPP2C functional study.
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ObjectiveThe type 2C protein phosphatases （PP2C） are involved in numerous plant signal transduction pathways. They mainly participate in plant stress response and regulate second metabolites biosynthesis via negatively regulating MAPK signaling pathway. Herein，we were to identify and analyze PP2C （CsPP2C） gene family from hemp genome，in hope of providing comprehensive insights for studying CsPP2C function during the development of hemp. MethodMolecular Evolutionary Genetics Analysis （MAGA）-X was used to construct phylogenetic tree. Expert Protein Analysis System （ExPASy），WoLF PSORT，Multiple EM for Motif Elicitation （MEME），Batch Conserved Domain Search （Batch-CD-Search），PlantCare，and TBtools were used，respectively，to predict CsPP2C physicochemical properties，subcellular localization，conserved motifs，protein structure，cis-element in promoter and collinearity with Arabidopsis PP2C. Cannabis sativa transcriptome and Real-time polymerase chain reaction（Real-time PCR） were used to analyze and verify gene expressions，respectively. ResultFifty-two CsPP2C with conserved domains were identified from the entire genome of hemp，encoding proteins ranging from 244 to 1 089 aa in length and with molecular weights ranging from 26.76 to 122.53 kDa. Those genes were mainly distributed in the nucleus，cytoplasm and chloroplast. The 47 CsPP2C were divided into 10 subfamilies，and the remaining 5 were not clustered. Seven pairs of homologous genes between hemp and Arabidopsis thaliana were identified according to collinear analysis. The light-responsive elements and abscisic acid elements are most abundant in the prediction. The gene expression heat map showed varied expression pattern of CsPP2C in different tissues. Real-time PCR results of three CsPP2C were consistent with transcriptome data. Moreover，alternative splicing analysis showed that some CsPP2C had alternative-splicing genes during evolution. ConclusionWe predicted and analyzed CsPP2C gene family in genomic scale and showed that CsPP2C are involved in many biological processes，whereby provides foundation for CsPP2C functional study.
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Objective@#This study aimed to analyze the temporal trends and characteristics associated with waist circumference (WC) among elderly Chinese people.@*Methods@#We used data from 3,096 adults ≥ 65 years who participated in the China Health and Nutrition Survey (CHNS), an ongoing cohort study, between 1993 and 2015. We used longitudinal quantile regression models to explore the temporal trends and characteristics associated with WC.@*Results@#WC increased gradually among the elderly Chinese population during the survey. The WC curves shifted to the right with wider distributions and lower peaks in men and women. All WC percentile curves shifted upward with similar growth rates in the 25th, 50th, and 75th percentiles. The WC means increased from 78 cm to 86 cm during the 22 years of our study. WC significantly increased with age and body mass index and decreased with physical activity (PA). These associations were stronger in the higher percentiles than in the lower percentiles.@*Conclusions@#WC is rising among Chinese adults ≥ 65 years. Factors affecting WC in elderly people may have different effects on different percentiles of the WC distribution, and PA was the most important protective factor in the higher percentiles of the WC distribution. Thus, different interventional strategies are needed.
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Aged , Female , Humans , Male , Body Mass Index , China/epidemiology , Cohort Studies , Nutrition Surveys , Waist CircumferenceABSTRACT
In this study, surface characteristics of plasma electrolytic oxidized Ti-mesh for dental use were studied using various experimental instruments. The titanium mesh was used as a substrate for PEO. Using a pulsed DC power supply, PEO treatment was carried out at 280 V for 3 min in the electrolytic solution containing Ca, Mg, and P ions. And the electrolyte used for PEO was prepared by mixing with Ca(CH 3COO)2·H 2O, C 3H 7CaO 6P, and (CH 3COO) 2Mg·4H 2O. The PEO-treated surface was observed by using X-ray diffraction, field-emission scanning electron microscope, energy dispersive X-ray spectroscopy, atomic force microscopy (AFM), and nanoindentation tester.PEO-treated Ti-mesh in solution containing Ca, Mg, and P ions (CaMgP) sample showed the active spark discharge reaction compared to in solution containing Ca and P ions (CaP) sample. In CaP and CaMgP samples, the PEO surface of Ti-mesh showed mainly circular, irregular, and oval shapes of pores. In the case of CaMgP, the defects and precipitates such as MgO were formed on the surface. On the sample surface, the distribution of the desired element was detected homogeneously.The PEO-treated CaP and CaMgP specimens were mainly composed of anatase, Mg, and hydroxyapatite. From the AFM result, the average roughness was 0.247 µm for CaP and 0.226 µm for CaMgP, respectively. The hardness of CaMgP containing Mg ions was increased compared to CaP containing without Mg ions, also, the elastic modulus of CaMgP sample was higher than that of CaP sample.
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Objective:To investigate the value of jugulo-omohyoid lymph nodes(JOHLN) for the prediction of lateral cervical lymph nodes metastasis behind internal jugular vein in patients with papillary thyroid carcinoma(PTC) and its clinical significance.Methods:The clinical data of 220 patients who underwent lateral neck dissection in our center were retrospectively analyzed, and the early warning effect and clinical significance of JOHLN on lymph node metastasis of the posterior internal jugular vein were analyzed.Results:In this study, the sensitivity, specificity, positive predictive value, negative predictive value and accuracy of JOHLN for predicting lymph node metastasis in the posterior group of internal jugular vein were 83.5%, 46.4%, 82.0%, 49.1%, and 74.1%, respectively. The accuracy rate for JOHLN prediction of upper tumor was 84.3%; In this study, side neck skip metastasis was found in 11 cases, all of which were JOHLN metastasis, upper tumors were found in 9 cases and 2 were located in the middle. Among the skip metastases, 6 cases had lymph node metastasis in the posterior group of internal jugular vein, and they were all upper tumors.Conclusions:JOHLN can effectively predict the risk of lateral neck metastasis. Especially for the upper PTC, preoperative evaluation of JOHLN can help decision-making of lateral neck lymph node dissection.
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OBJECTIVE@#To investigate the biological function of Cysteine rich (CysR) domain of a disintegrin and metalloprotease with thrombospondin type 1 repeats-13 (ADAMTS13) on cleavage of von Willebrand factor (vWF) and provide experimental evidence for exploring the pathogenesis of thrombotic thrombocytopenic purpura (TTP).@*METHODS@#The six amino acids (EDGTLS) in ADAMTS13 CysR domain were point mutated one by one, and the mutant ADAMTS13 proteins were expressed and purified. The cleavage products of vWF polymer by wild-type or mutant ADAMTS13 under denaturing condition or shear stress were separated by 1% SeaKem HGT agarose gel and detected by Western blot.@*RESULTS@#The mutant ADAMTS13 plasmids (M1: Glu515Ala; M2: Asp516Ala; M3: Gly517Ala; M4: Thr518Ala; M5: Leu519Ala; M6: Ser520Ala) were successfully constructed and the proteins of wild-type and mutant ADAMTS13 were purified. Wild-type ADAMTS13 almost completely cleaved the vWF polymer under denaturing condition, while the cleavage activity of M1 mutant was significantly reduced in the same condition (P<0.01). The cleavage activity of M1 mutant of ADAMTS13 was also significantly reduced compared with that of the wild-type under shear stress (P<0.01). The activity of M1 mutant to cleave the FRETS-vWF73 was dramatically reduced compared with that of wild-type ADAMTS13. However, the binding ability of M1 mutant to vWF was similar with that of wild-type ADAMTS13.@*CONCLUSION@#The CysR domain of ADAMTS13 plays an important role in the digestion of vWF under denaturing condition and shear stress. The Glu515 amino acid residue might be an important site for substrate recognition.
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Humans , ADAM Proteins , ADAMTS13 Protein/genetics , Purpura, Thrombotic Thrombocytopenic/genetics , von Willebrand Factor/geneticsABSTRACT
The development of newborn screening has led to the diagnosis of an expanding population of patients with inherited metabolic disorders.There are many types of inherited metabolic diseases, some of which are accompanied by episodic or persistent hypoglycemia.Severe episodes of hypoglycemia may aggravate metabolic crisis, as well as brain and vision damage.Nutritional management is the main treatment for inherited metabolic diseases.Correct diet management can reduce or even avoid hypoglycemia attacks while maintaining normal growth and development, inhibit the generation of harmful metabolites, and improve the quality of life of patients.Patients with inherited metabolic disorders complicated by hypoglycemia should adhere to nutrition management throughout their entire life.In this article, the current status of chronic nutritional management of inherited metabolic diseases with hypoglycemia was reviewed and related recommendations were made.
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The incidence of papillary thyroid cancer after liver transplantation is relatively low. This article introduces the treatment and prognosis of a case of papillary thyroid cancer after liver transplantation, and discusses the occurrence and development of thyroid cancer after liver transplantation and perioperative management and the prognosis, in order to further enhance the comprehensive management of such patients, extend the survival period and improve the quality of life.
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Purpose@#This study was performed to evaluate the relationship between callosal microbleeds and anoxic brain injury. @*Materials and Methods@#Twenty-seven patients with anoxic brain injuries were analyzed and retrospectively compared to the control group of patients without a history of anoxic brain injury using Fisher's exact test regarding comorbidities and cerebral microbleeds. The patient group was subdivided according to the presence of callosal microbleeds. Fisher's exact test was used to compare the presence of typical MRI findings of anoxic brain injury, use of cardiopulmonary resuscitation, and prognosis. The Mann-Whitney U test was used to compare the interval between the occurrence of anoxic brain injury to MRI acquisition. @*Results@#The prevalence of cerebral microbleeds in the patient group was 29.6%, which was significantly higher than that in the control group at 3.7% (p = 0.012). All cerebral microbleeds in the patient group were in the corpus callosum. Compared with the callosal microbleed-absent group, the callosal microbleed-present group showed a tendency of good prognosis (6/8 vs. 11/19), fewer typical MRI findings of anoxic brain injury (2/8 vs. 10/19), and more cardiopulmonary resuscitation (6/8 vs. 12/19), although these differences did not reach statistical significance (p = 0.35, p = 0.19, and p = 0.45, respectively). @*Conclusion@#Callosal microbleeds may be an adjunctive MRI marker for anoxic brain injury.
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PURPOSE: To determine the through-focus optical bench test performance of monofocal, bifocal, and extended depth-of-focus intraocular lenses (IOLs), and to measure their defocus curves.METHODS: A model eye was placed on an optical bench to test three different IOLs (TECNIS ZXR00, ZMB00, and ZCB00; Abbott Medical Optics, Santa Ana, CA, USA). The focus was changed by inserting trial lenses from +1.00 diopters to −4.00 diopters, in increments of +0.25 diopters. The 1951 United States Air Force Resolution chart was used to determine the quality of the images. The degree of similarity with reference images was given by the cross-correlation coefficient, and defocus curves were drawn and compared.RESULTS: Bifocal IOLs showed lower image quality with the addition of minus diopter trial lenses, but showed good image quality at near distance. Bifocal IOLs also showed a ‘double peak’ in their defocus curve. Monofocal IOLs showed a lower image quality and cross-correlation coefficient with addition of lower-diopter trial lenses. The extended depth of focus IOLs showed a single peak in their defocus curve, but had a wider range of diopters and better image quality than monofocal IOLs.CONCLUSIONS: Bifocal IOLs showed a double peak defocus curve, and extended depth of focus IOLs showed a wider diopter range and better image quality than monofocal IOLs.