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肾上腺增生症
相关语句
  adrenal hyperplasia
     Molecular genetic analysis of congenital lipoid adrenal hyperplasia
     先天性类脂质性肾上腺增生症分子遗传学分析
短句来源
     Of 11 cases adrenal diseases,there were 7 cases adrenal malignant tumor and 2 cases benign tumor,2 cases adrenal hyperplasia.
     肾上腺病变11例,其中良性肿瘤7例,恶性肿瘤2例,2例肾上腺增生症在随访观察中。
短句来源
     Hyperplastic primary aldosteronism includes idiopathic hyperaldosteronism (IHA), primary adrenal hyperplasia (PAH), glucocorticoid-remediable aldosteronism(GRA)and unilateral adrenal hyperplasia (UAH).
     增生型原发性醛固酮增多症包括特发性醛固酮增多症(IHA)、原发性肾上腺增生(PAH)、糖皮质激素可抑制性醛固酮增多症(GRA)和单侧肾上腺增生症(UAH)。
短句来源
     Of 11 cases adrenal diseases, there were 7 cases adrenal malignant tumor and 2 cases benign tumor,2 cases adrenal hyperplasia.
     肾上腺病变11例,其中良性肿瘤7例,恶性肿瘤2例,2例肾上腺增生症在随访观察中。
  “肾上腺增生症”译为未确定词的双语例句
     Adrenocorticotropic hormone-independent macronodular adrenocortical hyperplasia-report of seven cases report and review of literature
     ACTH非依赖性大结节样肾上腺增生症7例报告并文献复习
短句来源
  相似匹配句对
     Nonclassic adrenal hyperplasia
     非典型肾上腺增生
短句来源
     Adrenal Medullary Hyperplasia
     肾上腺髓质增生
短句来源
     In the cases of gonadal dysgenesis, 2 were of 46, XY chromosome aberration and 2 of testicular feminization which require early operation.
     先天性肾上腺皮质增生2例;
短句来源
     Adrenal medullary hyperplasia (report of 8 cases)
     肾上腺髓质增生(附八例报告)
短句来源
     DIAGNOSIS AND TREATMENT OF PRIMARY ADRENAL MEDULLAR HYPERPLASIA
     原发性肾上腺髓质增生的诊断与治疗
短句来源
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  adrenal hyperplasia
CYP21A2 deficiency is the most common cause of human congenital adrenal hyperplasia (CAH).
      
In 96 patients with congenital adrenal hyperplasia (CAH) and 50 healthy donors from northwestern Russia the distribution of the HLA-DQA1 alleles and the mutation spectrum and frequency at the CYP21B gene were examined.
      
The cognitive functioning of 27 female patients with congenital adrenal hyperplasia (CAH) (aged 11-41 yrs) and 13 of their healthy sisters (13-31 yrs) was compared using short versions of age-appropriate Wechsler scales.
      
They include primary aldosteronism, pheochromocytoma, Cushing's syndrome, and congenital adrenal hyperplasia.
      
Adrenal venous sampling is the only dependable way to differentiate aldosterone-producing adenoma from bilateral adrenal hyperplasia.
      
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A high-performance liquid chromatographic procedure (HPLC) for separating and measuring cortisone (E), cottisol (F), corticosterone (B),11-deoxycortisol (S), 4-androstene-dione + 11-deoxycorticosterone (A + DOC), 17α-hydroxy-progesterone (17α-OHP), and progesterone (P) in a single serum sample was described. With this method, the steroids in 6 patients.with congenital adrenal hyperplasia (CAH) and 30 normal subjects were determined. In 3 untreated patients with CAH due to 21-hydroxylase deficiency (21-OHD),...

A high-performance liquid chromatographic procedure (HPLC) for separating and measuring cortisone (E), cottisol (F), corticosterone (B),11-deoxycortisol (S), 4-androstene-dione + 11-deoxycorticosterone (A + DOC), 17α-hydroxy-progesterone (17α-OHP), and progesterone (P) in a single serum sample was described. With this method, the steroids in 6 patients.with congenital adrenal hyperplasia (CAH) and 30 normal subjects were determined. In 3 untreated patients with CAH due to 21-hydroxylase deficiency (21-OHD), basal serum 17α-OHP, A + DOC, and 21-hydroxylase index were markedly elevated, whereas F and E were considerably reduced; there was a "tripeak" in the shape of stairs seen on their chromatograms. In a treated case of 21-OHD, the "tripeak" disappeared. In two girls with 17α-hydroxylase deficiency, basal serum B was very high whereas F and E were very low. Their 17α-hydroxylase index was more than 70 times that of the normals. The above mentioned results suggested the usefulness of HPLC to the diagnosis and classification of CAH.

本文报告用高效液相色谱法同时分离和测定人血清中皮质素(E)、皮质醇(F)、皮质酮、11-去氧皮质醇、雄烯二酮+11-去氧皮质酮(A+DOC)、17α-羟孕酮和孕酮等8种主要类固醇激素的方法以及用本方法测得的6例先天性肾上腺增生症(CAH)病人血清类固醇激素谱。单纯男性化型21-羟化酶缺乏症的典型变化为F和E显著减低,17α-羟孕酮和A+DOC显著增高,21-羟化酶指数显著增高,色谱图上出现阶梯式“三连峰群”;17α-羟化酶缺乏症的典型变化为F和E显著减低,皮质酮显著增高,17α-羟化酶指数显著增高。初步临床观察显示,本方法在CAH的诊断、分型、治疗监测及变异型研究等方面有较高的实用价值。

Objective Congenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive inherited disorder, characterized by deficiency of adrenal and gonadal steroid hormones. Recent studies have shown that mutations in the gene for steroidogenic acute regulatory protein ( StAR) cause this most severe genetic disorder in steroid hormone biosynthesis. StAR is a mitochondrial protein promotes cholesterol transfer from outer mitochondrial membrane to the inner mitochondrial membrane, where the cholesterol serves as a...

Objective Congenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive inherited disorder, characterized by deficiency of adrenal and gonadal steroid hormones. Recent studies have shown that mutations in the gene for steroidogenic acute regulatory protein ( StAR) cause this most severe genetic disorder in steroid hormone biosynthesis. StAR is a mitochondrial protein promotes cholesterol transfer from outer mitochondrial membrane to the inner mitochondrial membrane, where the cholesterol serves as a substrate for P450scc and initiates steroidogenesis. So far, more than 30 different mutations in the StAR gene have been found in the patients with CLAH from various ethnic groups. None of CLAH patients in the Chinese population has been previously reported. In the present study we analyzed the StAR gene in a Chinese patient with CLAH. Methods The patient who was a 19-yr-old phenotypic female, has a 46, XY karyotype. Endocrinological evaluation was performed. Genomic DNA samples were abstracted from the bloods of the patient and his parents. Polymerase chain reaction (PCR) , direct DNA sequencing, family analysis and restriction enzyme digestion analysis were used to detect and confirm the mutations of StAR gene. Results Endocrine evaluation of the patient showed extremely elevated basal concentrations of serum ACTH and gonadotropin and minimal concentration of gonadal steroids. An ACTH stimulation test indicated basal serum dehydroepiandrosterone and 17-hydroxyprogesterone were lower than normal detectable range and had no obvious increase after the ACTH stimulation. Automatic sequencing of 7 exons of the StAR gene with the polymerase chain reaction products of the genomic DNA revealed compound heterozygous for a novel nonsense mutation Q77X in exon 3 and the frameshift mutation 838delA in exon 6. The father carried Q77X mutation and the mother carried 838delA mutation. The restriction enzyme site of the Q77X mutation was examined by endonucleotidase Bfa I. Furthermore, this mutation was not found in a series of 20 alleles of normal individuals. Conclusion Q77X is the novel mutation found in the patient with CLAH. Q77X and 838delA compound mutations could inactivate the StAR function and give rise to clinically manifest CLAH. This case is the first Chinese patient with CLAH identified by molecular genetic analysis. DNA-based analysis of StAR gene will be helpful for the diagnosis of CLAH.

目的 探讨先天性类脂质性肾上腺增生症(CLAH)患者发病的分子遗传学机制。方法对1例19岁男性女性化的CLAH患者进行相关内分泌激素水平评价,并提取来自患者及其父母外周血DNA,采用PCR、DNA序列分析、家系分析和限制性内切酶图谱分析等方法对类固醇生成急性调控蛋白(StAR)基因进行分析。结果 患者基础血促肾上腺皮质激素(ACTH)和促性腺激素显著升高,基础血17羟孕酮(17-OHP)、硫酸脱氢表雄酮(DHEAS)及睾酮水平降低,ACTH兴奋试验后17-OHP、DHEAS水平无明显增高。患者StAR基因存在复合杂合突变:外显子3存在以往未报道过的无义突变Q77X,该突变来自父亲并经限制性内切酶图谱分析证实。外显子6存在838delA移码突变,该突变来自母亲。结论 Q77X是StAR基因的一种新突变,Q77X和838delA突变可使StAR功能丧失或减弱而引起CLAH,开展StAR基因分析有助于明确CLAH的诊断。

Objective:To study the T_1W/WATS/FFE series of MRI applied in the diagnosis of adrenal diseases.Methods:49 cases with or suspected adrenal diseases diagnosed by CT and ultrasonic technique were undergone MRI T_1W/WATS/FFE series,and the image feature were analysed.Results:There were 38 cases found with normal adrenal.Of 11 cases adrenal diseases,there were 7 cases adrenal malignant tumor and 2 cases benign tumor,2 cases adrenal hyperplasia.45 cases were displayed clearly,2 cases were displayed just as so,and...

Objective:To study the T_1W/WATS/FFE series of MRI applied in the diagnosis of adrenal diseases.Methods:49 cases with or suspected adrenal diseases diagnosed by CT and ultrasonic technique were undergone MRI T_1W/WATS/FFE series,and the image feature were analysed.Results:There were 38 cases found with normal adrenal.Of 11 cases adrenal diseases,there were 7 cases adrenal malignant tumor and 2 cases benign tumor,2 cases adrenal hyperplasia.45 cases were displayed clearly,2 cases were displayed just as so,and the other two cases were shown roughly and unclearly.Conclusion:The T_1W/WATS/FFE series of MRI applied in adrenal exam could cleary reveal the constructure and the increased comparison with adjacent tissue and organs of adrenal;the process took little time but gave high quality of images satisfying the clinical use.

目的:探讨MRI中T1加权选择水激励梯度回波成像(T1W/WATS/FFE)序列在肾上腺疾病检查中的应用价值。方法:对临床拟诊和/或CT及超声检查后诊断为肾上腺病变的49例,应用MRI中T1W/WATS/FFE序列进行扫描,分析该序列在肾上腺疾病成像中的特点。结果:显示正常肾上腺38例。肾上腺病变11例,其中良性肿瘤7例,恶性肿瘤2例,2例肾上腺增生症在随访观察中。肾上腺显示分为良好、一般、差三种,肾上腺显示良好的有45例,一般2例,差2例。结论:MRI中T1W/WATS/FFE序列在肾上腺疾病检查中,能很好的显示肾上腺的结构,与周围组织和器官及病变对比度增加,扫描速度快成像时间短,图像质量高,能够满足临床的诊断要求。

 
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