FKBP52在反复体外受精种植失败患者种植窗期子宫内膜的表达研究

目的探讨FKBP52在反复体外受精种植失败患者种植窗期子宫内膜的表达情况。方法采用实时荧光定量聚合酶链式反应(RT-PCR)技术和免疫组织化学方法分别测定20例反复体外受精种植失败妇女(组1)种植窗期子宫内膜组织中FKBP52蛋白及其mRNA的表达,并与15例正常生育能力妇女卵泡晚期(组2)和种植窗期(组3)相比较。结果组1的FKBP52mRNA表达水平低于组2,组2低于组3,但差异均无统计学意义(P0.05)。FKBP52蛋白表达于腺上皮的胞核及胞浆,组1在腺上皮的胞核表达明显,组2在腺上皮的胞浆表达明显,组3在腺上皮的胞核及胞浆均有明显表达;组1和组2的FKBP52蛋白表达量分别为(2 125.9±1 729.9)和(1 360.2±853.7),并显著低于组3(8 319.1±5 873.8)(P0.05,P0.01)。结论 FKBP52蛋白在种植窗期的表达和定位异常可能是反复体外受精种植失败患者子宫内膜容受性的影响因素。     

反复自然流产的表观遗传学机制研究进展

反复自然流产(recurrent spontaneous abortion,RSA)在育龄人群中的发病率约为3%~5%,其中,近50%的RSA属不明原因的反复流产(unexplained recurrent spontaneous abortion,URSA)。近年来表观遗传学及其相关研究已成为生命科学的前沿领域,研究表明表观遗传调节不仅参与基因表达调控,而且在胚胎植入和胎儿发育过程中发挥重要作用。因此,从表观遗传学角度,深入揭示其在RSA发病中的作用及其调控途径,将有助于阐明RSA的发病机制,并能为临床治疗提供有价值的信息和思路。     

暴露与非暴露喉返神经的甲状腺手术对术后喉返神经损伤影响的Meta分析

目的：比较甲状腺手术中暴露喉返神经与非暴露喉返神经对术后喉返神经损伤的影响。 方法：检索国内外数据库中有关暴露与非暴露喉返神经甲状腺手术的随机对照试验（RCT）。按纳入和排除标准筛选文献、提取资料和质量评价后,对两种手术方式的喉返神经暂时性和永久性损伤发生率行Meta分析。 结果：共纳入7个RCT,共2 074例患者,其中1 015例甲状腺手术中暴露喉返神经（暴露组）,1 059例未暴露喉返神经（非暴露组）。Meta分析结果显示,无论是喉返神经暂时性损伤发生率还是喉返神经永久性损伤发生率,暴露组均低于非暴露组（OR=0.19,95% CI=0.11~0.34;OR=0.14,95% CI=0.06~0.34）,差异均有统计学意义（均P<0.05）。 结论：甲状腺手术中常规暴露喉返神经可有效降低术后喉返神经损伤发生率。由于文中未做其他临床指标的比较,故两种手术方式的利弊尚需更多大样本、高质量的RCT进一步验证。     

A case of recurrent acute pancreatitis in an obese child

ObjectiveThe aim of this report was to elucidate the relation between pancreatitis and obesity in children.MethodsWe present a case of recurrent acute pancreatitis in an obese girl.ResultsA 7-y-old healthy obese girl was admitted with epigastric pain and vomiting. She had prior history of three similar episodes with epigastric pain, and diagnosed as having acute pancreatitis 2 mo ago. At time of admission, her height was 128.5 cm (>95th percentile), weight 35.8 kg (>95th percentile), and body mass index 21.7 kg/m² (>95th percentile for age). Serum amylase and lipase levels were elevated, and other laboratory findings including viral markers, autoantibodies, and genetic testing were negative. Abdominal ultrasonography and computed tomography scan revealed acute pancreatitis with no evidence of stone or tumor. Anomalous pancreaticobiliary ductal union with choledochal cyst was suspected on magnetic resonance cholangiopancreatography and endoscopic retrograde cholangiopancreatography. After the surgery, with supportive care and diet, her symptoms were improved and no new episode of pancreatitis was observed.ConclusionsOur experience suggests that obesity is associated with recurrence as well as severity of acute pancreatitis in children.     

细菌溶解产物防治小儿反复呼吸道感染的Meta分析

目的：对细菌溶解产物防治RRTI患者急性呼吸道感染的效果进行荟萃分析。方法:对象为接受免疫刺激剂治疗的RRTI患者,效果指标为通过荟萃分析得到的患者RRTI发作次数,检索时间范围为2000年1月1日到2013年11月10日。结果：共检索到128篇文献,其中19项研究满足本研究的纳入标准,共959名患者。荟萃分析显示,在常规治疗的基础上加用细菌溶解产物制剂,能显著的减少RRTI患者急性呼吸道感染的发作次数,敏感性分析显示结果稳健。与单用常规治疗的患者相比,12个月内,加用细菌溶解产物的患者平均减少了2.963次急性呼吸道感染。结论：对RRTI患者,在治疗中使用细菌溶解产物能改善患者健康,降低患者发病风险。     

HLA-G非编码区单核苷酸多态性在复发性流产患者中的表达及对影响多因素Logistic分析研究

目的探讨HLA-G非编码区单核苷酸多态性在复发性流产患者中的表达及对影响多因素Logistic分析研究。方法选择2016年6月-2018年12月我院正常妊娠且无流产史患者作为对照组,选择期间复发性流产患者(URSA)作为观察组其中对照组30例,观察组20例。采用聚合酶链反应(PCR)检测HLA-G非编码区14bp基因多态性和逆转录-聚合酶链反应(RT-PCR),比较两组人群绒毛组织HLA-G 14bp插入/缺失基因型及绒毛组织中HLA-G mRNA的相对表达量及对多因素Logistic分析的影响。结果观察组-14bp/+14bp的杂合子基因频率为65.00%,对照组-14bp/+14bp的杂合子基因频率为43.33%,观察组高于对照组,差异有统计学意义(P<0.05);插入纯合子基因频率为+14bp/+14bp为10%。对照组基因频率为26.67%,与对照组比较有统计学意义(P<0.05);观察组HLA-G mRNA水平显着高于对照组(t=9.658,P=0.000)(P<0.05);HLA-G 蛋白在观察组里呈强表达,在对照组里呈弱表达,差异有统计学意义(P<0.05);HLA-G非编码区单核苷酸多态性也是导致患者复发性流产的一个重要因素,对于复发性流产多因素Logistic分析研究提供一个新的研究方向。结论 HLA-G非编码区-14bp/+14bp的杂合子基因大大增加了复发性流产患者的发病几率,同时复发性流产影响HLA-G mRNA及HLA-G 蛋白的正常表达。对复发性流产多因素Logistic分析提供一个新的研究方向。     

Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy

Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is caused by heterozygote mutations in TNFRSF1A, characterized by recurrent inflammatory attacks.In this report, we described two patients with different heterozygote mutations in TNFRSF1A. Patient 1, a 15-year-old male, had suffered from recurrent fever attacks accompanied by abdominal pain, eye manifestations, and myalgia with increased acute phase reactants since the age of 6-month. He had been unsuccessfully treated with colchicine for having familial Mediterranean fever without an identifiable MEFV mutation since the age of 4-year. At the age of 15 years, he was diagnosed with immunoglobulin (Ig) A nephropathy due to massive proteinuria and renal biopsy findings. Next generation sequencing revealed NM_001065.3: c.236C>T; p. (Thr79Met); T50M heterozygote mutation in TNFRFS1A. He was treated with methylprednisolone and cyclosporine for IgA nephropathy, thereafter with canakinumab for TRAPS. Patient 2, a 17-year-old female, had recurrent arthritis attacks accompanied by increased acute phase reactants for the last two months. She had neither fever attacks nor rashes or myalgia. Her physical examination was normal between attacks. Magnetic resonance imaging of both knees and ankles showed no signs of chronic arthritis. MEFV analyzes showed no mutation. Next generation sequencing revealed NM_001065.3: c.362G>A; p.(Arg121Gln); R92Q heterozygote mutation in TNFRFS1A. Arthritis attacks were treated successfully with ibuprofen thereafter.In conclusion, we wish to emphasize the diversity of the clinical manifestations between these two patients with distinct sequence variants in TNFRSF1A. Moreover, we presented a rare manifestation of TRAPS, IgA nephropathy.     

Expression of kisspeptin/GPR54 and PIBF/PR in the first trimester trophoblast and decidua of women with recurrent spontaneous abortion

Kisspeptin and its receptor GPR54 play a major role in trophoblast invasion, and progesterone-induced blocking factor (PIBF) is needed for maintaining pregnancy. The expression of kisspeptin/GPR54 and PIBF/progesterone receptor (PR) in trophoblasts and deciduas and the relationship between kisspeptin and PIBF were investigated in the same women with recurrent spontaneous abortion (RSA). Trophoblastic and decidual tissues were collected from 32 RSA women who miscarried a genetically normal fetus, and 35 women who had voluntary abortion. Kisspeptin, GPR54, PIBF and PR were investigated using immunohistochemistry. Kisspeptin, GPR54 and PIBF expressions in syncytiotrophoblasts and cytotrophoblasts were decreased in RSA women as compared to controls (P < 0.05). Kisspeptin, PIBF and PR expressions in deciduas were significantly decreased in RSA women as compared to controls (P < 0.01). GPR54 expression in deciduas nearly showed no difference between the RSA group and the control group (P = 0.958). Kisspeptin and PIBF expressions in syncytiotrophoblasts, cytotrophoblasts and deciduas were correlated with each other in the RSA group (Kappa = 0.602, P = 0.001; Kappa = 0.590, P = 0.001; Kappa = 0.392, P = 0.011). These data support the hypothesis that decreased kisspeptin and PIBF expressions in trophoblasts and deciduas are associated with RSA.     

联合疫苗接种对反复呼吸道感染患儿健康相关生活质量的影响

目的 观察肺炎球菌疫苗与流感疫苗联合接种对反复呼吸道感染（recurrent respiratory tract infection,RRTI）患儿健康相关生活质量的影响.方法 454例RRTI患儿分为4组,对照组（n=135）仪使用安慰剂,联合接种组（n=143）联合接种肺炎球菌疫苗与流感疫苗,肺炎球菌疫苗组（n=95）、流感疫苗组（n=81）.观察4组患儿相关临床指标以及接种前、接种后14个月时的PedsQLTM4.0评分.结果 4组患儿在例数、性别、年龄、病程及社会经济地位评分等方面比较差异无统计学意义（P＞0.05）;治疗后肺炎球菌疫苗组、流感疫苗组和联合接种组患儿上、下呼吸道感染次数,呼吸道疾病所致发热次数,抗生素使用天数及总治疗费用均明显少于对照组（P＜0.01）,并且联合接种组明显优于单纯肺炎球菌疫苗组、流感疫苗组（P＜0.01）;接种前PedsQLTM4.0评分比较差异无统计学意义（P＞0.05）,接种后各组各维度生活质量均明显提高（P＜0.05）,而对照组差异无统计学意义（P＞0.05）.结论 肺炎球菌疫苗与流感疫苗联合接种可有效改善RRTI患儿的健康相关生活质量,明显提高PedsQLTM 4.0评分,值得临床推广应用.