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Objective To study the demographic and clinical characteristics, correlation of genotype and phenotype and treatment of Blau syndrome to facilitate early diagnosis and timely treatment of Blau syndrome. Methods Seventy-two patients with Blau syndrome from 11 centers from May 2006 to April 2022 were retrospectively analyzed, and their general information, clinical data, laboratory examination and treatment medication were collected. Results The distribution of patients with Blau syndrome was uniform in geographical north and south of China, and there was no obvious gender bias. The mean age of onset was (14.30±12.81) months, and the age of diagnosis was (55.18±36.22) months. 35% of patients with Blau syndrome happened before 1 year old, and all patients developed before 5 years old. 87.50% (63/72) had granulomatous arthritis, 65.28% (47/72) had rash, 36.11% (26/72) had ocular involvement, 27.78% (20/72) had fever, and 15.28% (11/72) had pulmonary involvement. Arthritic manifestations of Blau syndrome were most at risk, followed by rash, ocular involvement, and fever.The first 25 months of the disease, the risk of developing a rash was the greatest. The risk of developing arthritis was the greatest between 25 months and 84 months. The main mutations were p.R334Q and p.R334W, and patients with p.R334Q mutation had relatively high incidence of fever (35.71%[5/14] vs. 14.29%[1/7], P=0.43) and ocular involvement (42.86%[6/14]vs. 28.57%[2/7], P=0.51). There was a relatively high incidence of rash (85.71%[6/7] vs. 64.29%[9/14], P=0.59) in patients with the p.R334W mutation. Forty-five patients(62.50%)were treated with a combina-tion of glucocorticoid and methotrexate. Twenty-two patients were treated with tumor necrosis factor antagonist in addition to glucocorticoid and methotrexate. Conclusions The risk of different clinical manifestations of Blau syndrome from high to low was arthritis, followed by rash, ocular involvement and fever. The main treatment was glucocorticoid combined with methotrexate, to which biological agents could be added.
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OBJECTIVE@#To explore the incidence and risk factors of readmission of elderly patients with hip fracture after hip hemiarthroplasty.@*METHODS@#A retrospective analysis of 237 elderly hip fracture patients who underwent hip hemiarthroplasty from February 2015 to October 2020 were performed. According to the readmission status of the patients at 3 months postoperatively, the patients were divided into readmission group (39 cases)and non-readmission group(198 cases). In readmission group, there were 7 males and 32 females with an average age of(84.59±4.34) years old, respectively, there were 34 males and 164 females with average age of (84.65±4.17) years old in non-readmission group. The general information, surgical status, hip Harris score and complications of patients in two groups were included in univariate analysis, and multivariate Logistic regression was used to analyze independent risk factors of patients' readmission.@*RESULTS@#The proportion of complications(cerebral infarction and coronary heart disease) in readmission group was significantly higher than that of non-readmission group (P<0.05), and intraoperative blood loss in readmission group was significantly higher than that of non-readmission group(P<0.05). Harris score of hip joint was significantly lower than that of non-readmission group(P<0.05). The proportion of infection, delirium, joint dislocation, anemia and venous thrombosis in readmission group were significantly higher than that of non-readmission group (all P<0.05). Multivariate Logistic regression analysis showed that the risk factors for readmission of elderly patients with hip fracture after hip hemiarthroplasty included cerebral infarction, infection, delirium, dislocation, anemia and venous thrombosis (all P<0.05).@*CONCLUSION@#The complications of the elderly patients who were readmission after hip hemiarthroplasty for hip fractures were significantly higher than those who were non-readmission. Cerebral infarction, infection, delirium, dislocation, anemia and venous thrombosis are risk factors that lead to patient readmission. Corresponding intervention measures can be taken clinically based on these risk factors to reduce the incidence of patient readmissions.
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Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Artroplastia de Quadril , Infarto Cerebral/cirurgia , Delírio , Fraturas do Colo Femoral/cirurgia , Hemiartroplastia/efeitos adversos , Fraturas do Quadril/cirurgia , Luxações Articulares/cirurgia , Readmissão do Paciente , Estudos Retrospectivos , Fatores de Risco , Resultado do TratamentoRESUMO
The transition from spermatogonia to spermatocytes and the initiation of meiosis are key steps in spermatogenesis and are precisely regulated by a plethora of proteins. However, the underlying molecular mechanism remains largely unknown. Here, we report that Src homology domain tyrosine phosphatase 2 (Shp2; encoded by the protein tyrosine phosphatase, nonreceptor type 11 [Ptpn11] gene) is abundant in spermatogonia but markedly decreases in meiotic spermatocytes. Conditional knockout of Shp2 in spermatogonia in mice using stimulated by retinoic acid gene 8 (Stra8)-cre enhanced spermatogonial differentiation and disturbed the meiotic process. Depletion of Shp2 in spermatogonia caused many meiotic spermatocytes to die; moreover, the surviving spermatocytes reached the leptotene stage early at postnatal day 9 (PN9) and the pachytene stage at PN11-13. In preleptotene spermatocytes, Shp2 deletion disrupted the expression of meiotic genes, such as disrupted meiotic cDNA 1 (Dmc1), DNA repair recombinase rad51 (Rad51), and structural maintenance of chromosome 3 (Smc3), and these deficiencies interrupted spermatocyte meiosis. In GC-1 cells cultured in vitro, Shp2 knockdown suppressed the retinoic acid (RA)-induced phosphorylation of extracellular-regulated protein kinase (Erk) and protein kinase B (Akt/PKB) and the expression of target genes such as synaptonemal complex protein 3 (Sycp3) and Dmc1. Together, these data suggest that Shp2 plays a crucial role in spermatogenesis by governing the transition from spermatogonia to spermatocytes and by mediating meiotic progression through regulating gene transcription, thus providing a potential treatment target for male infertility.
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Animais , Masculino , Camundongos , Proteínas de Ciclo Celular/genética , Linhagem Celular , Sobrevivência Celular , Proteoglicanas de Sulfatos de Condroitina/genética , Proteínas Cromossômicas não Histona/genética , Regulação da Expressão Gênica , Técnicas de Silenciamento de Genes , Infertilidade Masculina , Meiose/genética , Camundongos Knockout , Camundongos Transgênicos , Proteínas de Ligação a Fosfato/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Rad51 Recombinase/genética , Reação em Cadeia da Polimerase em Tempo Real , Espermatócitos/metabolismo , Espermatogênese/genética , Espermatogônias/metabolismoRESUMO
Objective To investigate a method for isolation and purification of pancreatic islets in mice,aiming to enhance the quantity and activity of pancreatic islets.Methods The pancreas were digested by retrograde common bile duct perfusion of collagenase,discontinuous density gradient centrifugation and the islets were selected and purified by manual method.After overnight culture,the pancreatic islets were incubated by static glucose-stimulated insulin secretion (GSIS)and the islet function was assessed.The subcellular structure of islet βcells was observed under transmission electron microscopy.Results Using the modified method,(200 ±20)islets were collected in each mouse with a mean diameter of (175 ±22)μm. The insulin levels in the stimulation of low (2.8 mmol/L)and high glucose (16.7 mmol/L)were (0.33 ± 0.07)and (1.36 ±0.47 )ng/(islet · 60 min),which were detected by GSIS.Insulin levels in the stimulation of high sugar is 4.12 times of those of low sugar with a statistical significance (P <0.05).It was revealed by transmission electron microscopy that the pancreatic βcell membrane and mitochondrial membrane was intact and insulin granules of different sizes could be seen within βcells.Conclusions Retrograde common bile duct perfusion of collagenase,discontinuous density gradient centrifugation combined with manual selection in vitro is a convenient,fast and stable method for isolating mouse islets,which can get pancreatic islets with relatively high output,intact cellular morphology,and good reactivity of GSIS.
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In order to study the important factors involved in cationic liposome-mediated gene transfer, Lipofectamine 2000 or DOTAP was evaluated using three types of cells (Hep-2, MCF-7 and SW-480) in vitro transfection efficiencies. Different properties of the two reagents were analyzed and compared by DNA arrearage assay and MTT assay. Both Lipofectamine 2000 and DOTAP had strong capability to combine with DNA; Lipofectamine 2000 can get higher transfection efficiency of the three cells by using GFP as report gene, meanwhile, DOTAP can also get higher transfection efficiency against Hep-2 cell. However, DOTAP showed lower transfection efficiency against MCF-7 and SW-480 cell. On the other hand, the cytotoxicity assay showed that over 85% cell viability of MCF-7 cell could be achieved both by Lipofectamine 2000 and DOTAP under the optimal transfection condition. Relatively speaking, Lipofectamine 2000 has very high transfection efficiency in a broad range of cell lines, but because of the special selectivity of cell type on liposome, DOTAP also has a broad application prospect.