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71.
Alicia Bach Jingyi Mi Matthew Hunter Benjamin J. Halliday Sixto García-Miaúr Francesca Sperotto Eva Trevisson David Markie Ian M. Morison Marwan Shinawi Daniel N. Willis Stephen P. Robertson 《European journal of human genetics : EJHG》2021,29(3):396
Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occasionally, learning disability. Male hemizygotes typically manifest the condition as fetal or neonatal death. Somatically acquired variants in AMER1 are found in neoplastic tissue in 15–30% of patients with Wilms tumor; however, to date, only one individual with OSCS has been reported with a Wilms tumor. Here we present four cases of Wilms tumor in unrelated individuals with OSCS, including the single previously published case. We also report the first case of bilateral Wilms tumor in a patient with OSCS. Tumor tissue analysis showed no clear pattern of histological subtypes. In Beckwith–Wiedemann syndrome, which has a known predisposition to Wilms tumor development, clinical protocols have been developed for tumor surveillance. In the absence of further evidence, we propose a similar protocol for patients with OSCS to be instituted as an initial precautionary approach to tumor surveillance. Further evidence is needed to refine this protocol and to evaluate the possibility of development of other neoplasms later in life, in patients with OSCS.Subject terms: Genetics, Clinical genetics, Disease genetics 相似文献
72.
López-Vázquez A Miña-Blanco A Martínez-Borra J Njobvu PD Suárez-Alvarez B Blanco-Gelaz MA González S Rodrigo L López-Larrea C 《Human immunology》2005,66(3):285-289
KIR and HLA loci are both highly polymorphic, and some HLA class 1 products bind and trigger cell-surface receptors specified by KIR genes. We examined whether KIR genes act in concert with HLA-B locus to control HIV-1 infection in a sample of Zambian patients. DNA samples from 88 Zambian patients with HIV-1 were examined. Patients were classified as either slow progressors (SP; n = 54) or rapid progressors (RP; n = 34) to AIDS. All were typed for HLA-B and KIR genes. Our results reveal an association between B*57 supertype (B*57s, which includes B*57 and B*58 alleles) and delayed progression to AIDS (p = 0.0007 by pc = 0.015; OR = 5.25). We also observed an increase incidence of Bw4-I80 in patients with slow progression (p = 0.001 by pc = 0.003, OR = 5). This increase was found to be secondary to B*57s. The presence of both KIR3DL1 and B*57S has a significant effect on progression to AIDS (p = 0.0008; OR = 5.61). B*57s genotypes with another HLA-B allele different from those in the trans position, which also had a specificity different to Bw4-I80 (Bw4-T80 or Bw6), was also greater in the SP than in the RP group (p = 0.00003; OR = 10.11). The presence of the inhibitory allele KIR3DL1 in combination with the HLA-B*57s alleles that contain the Bw4-I80 epitope, has a highly protective effect against progression to AIDS in Zambian patients. 相似文献
73.
A. García Ontiveros J. Cantero Hinojosa B. Gil Extremera J. Miñarro del Moral 《Journal of molecular medicine (Berlin, Germany)》1990,68(10):496-502
Summary Some differences between gallbladder lithiasis and primary common bile duct lithiasis are described. Microbiological cultures and biochemical analyses were carried out on the bile of two groups of patients: 27 suffering from gallbladder and 5 from primary common duct lithiasis. The microstructure and composition of gallstones were also examined by polarized light microscopy and X-ray diffraction. Women predominated in gallbladder lithiasis but not in primary common duct lithiasis group (P<0.05) and body weight was higher in the former group (P<0.02). Primary common duct lithiasis patients had a higher, although not significant, incidence of duodenal diverticulosis (P=0.15), and a higher incidence ofE. coli-positive cultures in bile (P<0.001). No significant difference in the biochemical composition of the bile was found between the groups. Brown pigment stones predominated in primary common duct lithiasis, while cholesterol stones did in gallbladder and secondary common duct lithiasis (P<0.0001). Stones formed in the gallbladder generally show linear, radial growths of cholesterol crystals, while those from the common duct present a polystratified, concentric deposition of microgranules composed mainly of pigmentary salts.These differences should be taken into account as additional criteria in the differential diagnosis between primary and secondary common duct lithiasis, as the classical criteria for diagnosing of the former greatly underestimate its actual incidence. The distinction between primary and secondary common duct lithiasis is of practical significance, since each entity requires different treatment.Abbreviations CBD
common bile duct
- CBDL
common bile duct lithiasis
- ERCP
endoscopic retrograde cholangiopancreatography
- GBL
gallbladder lithiasis
- HDL
high density lipoproteins
- PCBDL
primary common bile duct lithiasis
- SCBDL
secondary common bile duct lithiasis
- SGOT
serum glutamic-oxalacetic transaminase
- SGPT
serum glutamic-pyruvic transaminase 相似文献
74.
目的探讨难治性先天性乳糜胸(CC)新生儿的临床特点、治疗方法。 方法选择2015年6月至2019年12月,在首都儿科研究所附属儿童医院住院治疗的11例难治性CC新生儿为研究对象,回顾性分析其临床表现、辅助检查结果、治疗、转归和随访情况。本研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》,并与患儿监护人签署临床研究知情同意书。 结果①一般临床资料:11例难治性CC患儿的起病日龄<28 d,入院日龄为1~103 d。其中男性患儿为6例,女性为5例;足月儿为8例,早产儿为3例,出生胎龄为31~40周;接受产前诊断为4例,合并胎儿水肿为3例。②临床表现:生后10 min内起病为7例,11例患儿均表现为呼吸急促,患侧肺部呼吸音减弱,胸部X射线摄片、胸部CT或胸部超声检查结果均提示胸腔积液,其中双侧胸腔积液为7例,单侧胸腔积液(左侧)为4例,胸腔积液乳糜试验均呈阳性。③治疗方法:入院后,对11例患儿均进行保守治疗(饮食调节、呼吸支持、胸腔闭式引流、奥曲肽微量泵持续注射治疗、抗感染治疗等) 2~4周,失败后,对10例采用化学胸膜固定术(胸腔内注射红霉素),其中7例患儿联合奥曲肽微量泵持续注射治疗,单侧胸腔注射次数为1~7次,未同时联合奥曲肽微量泵持续注射治疗者,胸腔内单侧注射红霉素次数为3~7次。胸腔内注射红霉素过程中,4例患儿出现心率加快、烦躁,1例出现明显血糖浓度升高(18.8 mmol/L)。2例患儿行胸腔镜下探查术和乳糜瘘修补术。④转归:11例难治性CC经治疗后,均吸收好转,住院天数为40~73 d,其中1例自动出院后死亡,1例因怀疑气管食管瘘家长放弃治疗后失访。其余9例患儿出院后均无复发。 结论难治性CC多见于足月儿,对其采取早期饮食调节、静脉营养、胸腔穿刺闭式引流和奥曲肽静脉输注保守治疗2~4周无效的患儿,可联合化学胸膜固定术(胸腔内注射红霉素)治疗。对于上述治疗>4周无效者,可采用胸腔镜下探查术,明确渗漏点后,予以淋巴管瘘修补术,以提高对难治性CC的治愈率。 相似文献
75.
泌尿道感染常见菌群分布及耐药谱分析 总被引:2,自引:0,他引:2
目了:了解泌尿道感染常见菌群分布及其对抗生素的耐药性。方法:分析474例从临床尿标本分离出的菌株并测定其对常见抗生素的耐药性。结果:泌尿道感染常见致病菌是大肠杆菌,绿脓杆菌和肺炎克雷伯氏杆菌,大肠杆菌地阿莫西林/棒酸,哌拉西林/他唑巴坦的耐药率为24%-38%,对第3代头孢菌素的耐药率为12-22%,绿脓杆菌和阴沟肠杆菌耐药率较高,且多重耐药。结论:定期系统的细菌耐药性监测对临床用药具有重要意义。 相似文献
76.
目的 :观察人参二醇组皂甙 (PDS)对游泳训练大鼠超氧化物歧化酶 (SOD)与脂质过氧化物(L PO)水平的影响。方法 :TBA比色法和邻苯三酚 -氯化硝基四氮唑蓝法。结果 :PDS可降低肝、肾、心与骨骼肌组织中的 L PO水平 ,提高红细胞与肺组织中 SOD活性 ,并且这些作用优于甲基睾酮对照组。结论 :PDS可通过减少自由基防治运动性疲劳和损伤 相似文献
77.
目的:通过A/J系小鼠肺腺癌模型,探讨肺肿瘤细胞的起源和恶性转化过程。方法:应用4-氮喹啉1-氧化物(4QO)化学物质为促癌剂,建立A/J系列小鼠肺癌的模型。观察诱发肿瘤时间、肿瘤数目及与类型的关系。结果:RNQO诱发5个月时,共发现肺肿瘤17处,其中肺泡上皮增生(AP)6处。肺泡腺瘤(AA)9处,乳头状腺瘤(PA)2处;诱发7个月时共发现肺肿瘤19处,AP为7处,AA为11处,PA为1处,诱发9个月时共发现肺肿瘤27处,AP为5处,AA为17处,PA为3处,发现乳头状腺癌(PC)2处。结论:4NQO能诱发A/J系小鼠肺腺癌。诱发肿瘤的时间长短与发生肿瘤的组织学类型有密切关系。 相似文献
78.
Li Chunjing Guo Liwen Luo Mi Guo Mingjuan Li Jierong Zhang Shilin Liu Guoqing 《International urology and nephrology》2021,53(10):1987-1993
International Urology and Nephrology - Ureteroscopy is widely applied in pregnant women with renal colic, but such patients are easy to experience uterine contraction after surgery. There are many... 相似文献
79.
目的 总结全麻气管插管患者术后咽喉疼痛预防的最佳证据,为预防术后咽喉疼痛提供循证依据.方法 运用循证护理的方法,检索相关数据库建库至2020年8月针对围手术期咽喉疼痛预防的临床决策、推荐实践、最佳实践信息册、指南、证据总结、系统评价、专家共识.结果 共纳入18篇文献,从咽喉疼痛评估、插管策略、预防药物、套囊管理、拔管管理方面总结20条最佳证据.结论 临床医护人员可通过最佳证据的临床转化及应用来减少全麻气管插管患者术后咽喉疼痛发生率和严重程度,促进患者康复. 相似文献
80.
目的探究Most Care/PRAM系统监测下不停跳冠状动脉旁路移植术(OPCABG)患者术中血流动力学变化情况和预后分析。方法纳入2016年10月至2017年1月安贞医院89例OPCABG患者,其中男53例、女36例,年龄(60.50±8.40)岁。记录术中血流动力学变化情况。按是否发生心肌梗死、低心排血量等严重循环不良事件,分为平稳组和严重循环不良事件组,进行相关分析。结果手术全程监测完整血流动力学数据患者65例,开胸前和关胸后被动抬高试验的每搏量(SV)升高均值分别为23.00%±3.20%和29.40%±3.70%。麻醉、开胸、应用肝素时、搭桥中、应用鱼精蛋白时、关胸和术毕7个时间段,SV明显下降,外周血管阻力指数(SVRI)持续显著增加,最大压力梯度(d P/d T)和心脏循环效率(CCE)在麻醉后明显下降,搭桥时下降到最低,其后逐渐升高;每搏量变异率(SVV)和脉压变异率(PPV)在麻醉后下降,开胸后一直升高。89例患者发生严重循环不良事件共9例,其中4例死亡。严重循环不良事件组术中基础SVRI、SVV和PPV均显著高于平稳组(P<0.05),CCE、d P/d T和SV差异无统计学意义(P>0.05)。术中基础SVRI、CCE、d P/d T、SVV、PPV和SV均值与预后指标均无明显相关性。结论OPCABG术中易出现血流动力学的改变,因此,OPCABG术中宜应用Most Care/PRAM仪进行血流动力学监测,并及时纠正血流动力学异常。 相似文献