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Immunodeficiency 免疫缺陷Syndromes

Because this patient has obstructive lung disease 阻塞性肺疾病and a history of recurring再发的 pulmonary infections,a diagnosis of an immunodeficiency syndrome is worth considering. Humoral immune responses associated with antibody deficiencies increase the risk of sinopulmonary infections 窦肺感染and may eventually cause chronic obstructive lung disease. However, this patient has not had recurrent or chronic sinus disease. A variety of other immunodeficiency syndromes could be considered,but the severity of this patient’s lung disease in infancy, together with the other findings reported in infancy in this patient, make these syndromes unlikely.

免疫缺陷综合症

由于该患者患有阻塞性肺病,且有肺部感染复发史,因此诊断为免疫缺陷综合征是值得考虑的。与抗体缺乏相关的体液免疫反应增加了肺部感染的风险,并可能最终导致慢性阻塞性肺病。但是,这个病人没有复发或慢性鼻窦疾病。可以考虑其他多种免疫缺陷综合征,但该患者婴儿期肺部疾病的严重程度,以及该患者婴儿期报告的其他发现,使这些综合征看上去不太可能。

1. humoral /'hjuːm(ə)r(ə)l/

基本翻译

adj. 体液的;温性的;由体液引起的

网络释义

humoral:体液的 ; 由体液引起的 ; 温性的

2. chronic /ˈkrɒnɪk/

基本翻译

adj. 慢性的;长期的;习惯性的

Autoimmune Disorders

Certain autoimmune disorders can have associated pulmonary manifestations 临床表现and joint hypermobility运动过度. Inflammatory炎症性的 bowel disorders may be associated with bronchiectasis/,brɒŋkɪ'ektəsɪs/, bronchiolitis obliterans, and interstitial lung disease 间质性肺病and may include joint hypermobility. These manifestations may be caused by inflammatory bowel disorders but may also be caused by the treatment of such disorders or by infections that occur in association with that treatment. In addition, celiac disease 腹泻病may occur with emphysema /ˌemfɪˈsiːmə/,chronic bronchitis慢性支气管炎, and hypermobility. The patient had diarrhea腹泻 at the time of her recent presentation, but this symptom was not described as persistent. However, an autoimmune disorder is not likely to account for解释 her presentation in infancy or for congenital 先天的cardiac disease心脏疾病.

自身免疫性疾病

某些自身免疫性疾病可能伴有相关的肺部表现和关节过度活动。炎症性肠病可能与支气管扩张、闭塞性细支气管炎和间质性肺病有关,并可能包括关节过度活动。这些表现可能是由炎症性肠病引起的,但也可能是由这些疾病的治疗或与治疗相关的感染引起的。此外,腹泻病可能发生与肺气肿,慢性支气管炎,和运动过度有关。病人在她最近的陈述表现中有腹泻,但是这个症状不是持续性的。然而,自身免疫性疾病不太可能解释她在婴儿期先天性心脏病的表现。

1. bronchiectasis /,brɒŋkɪ'ektəsɪs/

基本翻译

n. [内科] 支气管扩张

2. bronchiolitis obliterans

基本翻译

[内科] 闭塞性细支气管炎

3. emphysema /ˌemfɪˈsiːmə/

基本翻译

n. [临床] 气肿;肺气肿

Connective-Tissue结缔组织 Disorders

The findings of aortic regurgitation主动脉返流, pulmonary hypertension, patent ductus arteriosus动脉导管未闭, emphy sema肺气肿, pneumothorax/,njuːmə(ʊ)'θɔːræks/, and joint hypermobility strongly suggest a connective-tissue disorder such as Marfan’s syndrome, the Loeys–Dietz syndrome, or the Ehlers–Danlos syndrome. Marfan’s syndrome is an autosomal dominant 常染色体显性condition caused by mutations突变 in the gene encoding编码 fibrillin-1 原纤蛋白1(FBN1).  At 6 years of age, after a spontaneous/spɒnˈteɪniəs/自发性 pneumothorax had developed, this patient underwent genetic testing基因检测; this gene was sequenced序列, and no mutation突变 was identified. The Loeys–Dietz syndrome is an autosomal dominant disorder that has some phenotypic /,fi:nə'tipik/表型的 overlap with Marfan’s syndrome; it is caused by disruption of genes encoding members of the canonical/kəˈnɒnɪkl/ transforming growth factor β (TGF-β) signaling cascade信号级联放大 and has been reported to be associated with aortic disease大动脉疾病, obstructive pulmonary disease, and pneumothorax. In contrast with Marfan’s syndrome, which is monogenic单基因的,the Loeys–Dietz syndrome has been associated with multiple gene loci基因位点, including TGFBR1 and TGFBR2, which encode the two subunits 二级单位of the TGF-β receptor受体 (TGFBR1 and TGFBR2). The Ehlers–Danlos syndrome is associated with mutations in several different genes, with multiple genotypic 基因型的and phenotypic 表型的variants变体, and most commonly is autosomal dominant. Type IV Ehlers–Danlos syndrome, also known as vascular 血管的Ehlers–Danlos syndrome, is associated with a defect in the gene encoding type III collagen 胶原(COL3A1). Vascular Ehlers–Danlos syndrome leads to arterial disease 动脉疾病and may cause emphysema,pneumothorax, aortic disease, and patent ductus arteriosus. 9-12 This patient’s disease in young adulthood 成年早期has manifestations that suggest an Ehlers–Danlos syndrome phenotype /ˈfiːnətaɪp/表型, but the onset in infancy reduces the likelihood 可能性of this possibility.

结缔组织紊乱

主动脉反流、肺动脉高压、动脉导管未闭、肺气肿、气胸、关节过度活动等表现强烈提示结缔组织紊乱,如马凡氏综合征、loys - dietz综合征或Ehlers-Danlos综合征。马凡氏综合征是一种常染色体显性遗传疾病,由编码纤颤蛋白1 (FBN1)的基因突变引起。在6岁时,在自发性气胸发生后,病人接受了基因测试;该基因被测序,没有发现突变。loys - dietz综合征是一种常染色体显性遗传疾病,与马凡氏综合征有表型重叠;是由干扰引起的基因编码的规范转化生长因子β(TGF-β)信号级联,据报道,与主动脉疾病,阻塞性肺疾病和气胸发病有关。与马方氏综合征相比,单基因,Loeys-Dietz综合症与多个基因位点有关,包括TGFBR1 TGFBR2,编码的两个子单元TGF-β受体(TGFBR1和TGFBR2)。埃勒斯-丹洛斯综合征与几种不同基因的突变有关,有多种基因型和表型变异,最常见的是常染色体显性遗传。IV型ehler - danlos综合征,也称为血管ehler - danlos综合征,与III型胶原蛋白(COL3A1)编码基因缺陷有关。血管性ehler - danlos综合征可导致动脉疾病,并可导致肺气肿、气胸、主动脉疾病和动脉导管未闭。本例患者在青年期的表现提示有Ehlers-Danlos综合征表型,但婴儿期发病降低了这种可能性。

1. pneumothorax /,njuːmə(ʊ)'θɔːræks/

基本翻译

n. [内科] 气胸

2. spontaneous /spɒnˈteɪniəs/

基本翻译

adj. 自发的;自然的;无意识的

3.phenotypic /,fi:nə'tipik/

基本翻译

adj. 表型的

4. canonical /kəˈnɒnɪkl/

基本翻译

n. 教士的法衣(常复数)

adj. 按照宗法教规的;真经的;经典的;(数学表达式)最简洁的;准确的;权威的;公认的;与公理有关的;与教会有关的,与教士有关的

5. phenotype /ˈfiːnətaɪp/

基本翻译

n. 表型,表现型;显型

In recent years, a disorder similar to the Ehlers–Danlos syndrome that is caused by mutations in the gene encoding filamin  /'filəmin/细丝蛋白A (FLNA) has been recognized. FLNA-related disease is an X-linked dominant显性的 condition that has highly variable 可变的phenotypic features. The most common manifestations include a neurologic /,njuərə'lɔdʒikəl/神经的 disorder called periventricular /,periven'trikjulə/室周的heterotopia/,hetərə'təʊpɪə/异位 (a neuronal migration神经元迁移 defect), seizure /ˈsiːʒə(r)/, thrombocytopenia/,θrɒmbə(ʊ),saɪtə(ʊ)'piːnɪə/血小板减少征, gastrointestinal dysmotility运动障碍, poor growth, skeletal骨骼的 dysplasia发育不良, and hypermobility. Different combinations of these findings may result in different types of FLNA-related disease; these differences are probably based on genetic variation遗传变异. FLNA related disease is frequently fatal/ˈfeɪtl/ in male patients.

近年来,一种类似于ehler - danlos综合征的疾病被发现,这种疾病是由编码细丝蛋白 a (FLNA)的基因突变引起的。flna相关疾病是一种x连锁显性疾病,具有高度可变的表型特征。最常见的症状包括脑室周围异位(一种神经元迁移缺陷)、癫痫、血小板减少、胃肠运动障碍、生长缓慢、骨骼发育不良、过度运动等神经系统疾病。这些发现的不同组合可能导致不同类型的flna相关疾病;这些差异可能是基于遗传变异。FLNA相关疾病在男性患者中常常是致命的。

1. filamin /'filəmin/

基本翻译

n. 细丝蛋白

2. neurologic /,njuərə'lɔdʒikəl/

基本翻译

adj. 神经病学的

3. periventricular /,periven'trikjulə/

基本翻译

adj. 室周的

4. heterotopia /,hetərə'təʊpɪə/

基本翻译

n. 异位;异位移植

5. seizure /ˈsiːʒə(r)/

基本翻译

n. 没收;夺取;捕获;(疾病的)突然发作

6. thrombocytopenia /,θrɒmbə(ʊ),saɪtə(ʊ)'piːnɪə/

基本翻译

n. [内科] 血小板减少(症)

7. fatal /ˈfeɪtl/

基本翻译

adj. 致命的;重大的;毁灭性的;命中注定的

n. (Fatal)人名;(葡、芬)法塔尔

 

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