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1.
雄激素不敏感综合征(androgen insensitivity syndrome,AIS)又称为睾丸女性化综合征(testicular feminization syndrome,TFS),是一种X连锁遗传病,是男性假两性畸形中较常见的类型,可分为完全型AIS和不完全型AIS,其原因主要是雄激素受体(androgen receptor,AR)基因的突变导致其对雄激素产生抵抗和不应答。本文回顾南京医科大学附属妇产医院2例CAIS患者的临床资料及诊疗过程,以期能进一步提高对该病的认知及诊治水平。 相似文献
2.
《The surgeon》2022,20(4):e100-e104
IntroductionUndescended testis (UDT) is a clinical diagnosis and a common reason for referral to paediatric urology outpatients. Our aim was to assess current referral patterns at our unit and to identify predictive factors that may better aid primary care physicians (PCP) in diagnosing UDT based on history and physical exam.MethodsA retrospective analysis of referrals to outpatients from 2014 to 2016 was performed to assess current referral patterns including referral source, age, reason for referral and outcome following assessment by a single consultant paediatric urologist.A prospective analysis of new referrals was performed to identify predictive factors which may aid in the diagnosis of UDT including gestational age, presence of scrotal asymmetry and previously obtained imaging.ResultsFrom 2014 to 2016, 259 boys were referred with suspected UDT. The majority of referrals were received from PCPs (62%) followed by Neonatology (29%), Paediatrics (8%) and general surgery (1%). Median age at time of assessment was 29 (5–180) months. One hundred and eight (41.7%) boys were diagnosed with UDT.There were 74 boys assessed prospectively. Median age at assessment was 24.5 (6–171) months. We identified 3 predictors of a diagnosis of UDT; history of prematurity (p = 0.001), UDT mentioned to the parents at birth (p = 0.027) and scrotal asymmetry on examination (p < 0.001). Greatest diagnostic inaccuracy was found in boys referred beyond one year of age (27.7%). In this cohort, the absence of all three risk factors was associated with a negative predictive value of 94.1%.ConclusionThe majority of boys with suspected UDT are referred beyond the age recommended for orchidopexy (6–12 months). The majority of boys referred for assessment did not have UDT. We have identified three predictive factors that may aid referring physicians when assessing boys, particularly those older than 1 year. 相似文献
3.
A 22-year-old man who had previously undergone work-up for right cryptorchidism and been diagnosed as having right testicular absence was referred for repair of a right inguinal hernia. A laparoscopic approach was chosen for this patient, and at the time of laparoscopic herniorrhaphy, a small intraabdominal testicle was visualized and removed laparoscopically.Laparoscopy has served as an excellent procedure for locating intraabdominal testes and planning the most appropriate treatment for many cryptorchid patients. Until recently, atrophic testes located within the abdominal cavity through use of a laparoscope were removed via an open technique. Advances in laparoscopy now enable detection and definitive treatment for these patients without the need for large, more painful incisions.The laparoscopic approach to this patient enabled diagnosis and management of his cryptorchidism and provided a means for repair of his hernia. 相似文献
4.
230例隐睾临床分析 总被引:14,自引:0,他引:14
目的 总结隐睾及其并发症的诊治经验 ,提高对隐睾合理治疗年龄的认识。 方法 回顾性分析 1996至 2 0 0 1年 2 30例 2 99侧隐睾患者诊治资料。就诊时年龄 1~ 5 9岁 ,平均 (9.5± 9.0 )岁。左侧 88例 ,右侧 73例 ,双侧 6 9例。合并尿道下裂 11例 ,隐匿性阴茎 2例。 结果 2岁以内手术治疗患者 2 5例 (10 .9% )。手术治疗 2 89侧 ,其中行一期下降固定术 2 73侧 ,另外疑为萎缩或恶变而行手术切除送病理 15侧 ,探查缺如 1侧。手术 2 89侧中 2 73例下降固定术后随访 4个月~ 5年 ,2 70例未见睾丸回缩及萎缩 ,成功率 98.9% (2 70 / 2 73侧 )。腹外型 2 6 0侧 (90 .0 % ) ,腹内型 2 5侧 (8.7% ) ,缺如 4侧 (1.4 % )。合并斜疝 74侧 (2 5 .6 % ) ,鞘状突未闭 2 4侧 (8.3% ) ,睾丸附睾分离 33侧 (11.4 % )。14 6侧腹外型隐睾B超检查符合率 86 .3% (12 6 / 14 6 ) ,查体符合率 6 3.0 % (92 / 14 6 ) ,P <0 .0 0 5。 结论 2岁以内最佳手术时机的隐睾患者诊治率明显偏低 ,应引起重视。B超对隐睾的定位诊断符合率较高。 相似文献
5.
《Journal of pediatric urology》2022,18(2):236.e1-236.e7
6.
A new testicular prosthesis for pediatric use is presented. This differs from the model usually available in that it is pink-pigmented and opaque. Over a period of 2 years and 6 months, 57 testicular prostheses were implanted in 53 boys. Seventeen of these were opaque, pigmented ones, while the others were regular translucent prostheses. No complications occurred with either type. Even when applied in adults, the traditional translucent prosthesis gives the unpleasent impression of hydrocele. In pediatric cases, this unesthetic appearance is enhanced because of the disproportion between the scrotum and the size of the prosthesis. The cosmetic appearances of these scrota have been partially improved by the use of colored, opaque prostheses.
Offprint requests to: F. Ferro 相似文献
7.
腹腔镜下精索血管高位离断后大鼠睾丸的形态学改变 总被引:1,自引:2,他引:1
目的观察腹腔镜FowlerStephens(FS)手术对青春发育前、中、后期睾丸形态结构的影响。方法30d龄Wistar大鼠麻醉后建立CO2气腹,分别行右侧精索血管游离术(对照组)、右侧腹腔内精索血管离断术(FS组),术后将每大组大鼠再分成7个小组(对照组每小组5只;FS组每小组8~12只),分别在术后第9d(青春发育期前)、20d和45d(青春发育期)、90d和180d(性发育成熟期)、360d和540d(中年期),获取睾丸进行详尽的组织形态学研究。结果FS手术可以引起术后不同时期共85%手术侧睾丸出现轻度(血睾屏障受损为主)、重度(唯支持细胞综合征为主)和完全萎缩(丧失睾丸基本结构,无生殖细胞存活);当轻度或重度萎缩,对侧睾丸未受累;当完全萎缩(49%),对侧睾丸在手术45d后,100%出现轻度(青春发育期后)或重度(中年期)萎缩;间质细胞增生或腺瘤可发生于轻、重和完全萎缩睾丸中(P<0.001)。结论腹腔镜FS动物模型可用幼年大鼠建立;该手术可以引起从青春发育前期至中年期较高比例、不同程度的睾丸萎缩,其中完全萎缩可以影响到对(健)侧睾丸,而可能引起青春发育期后生殖力下降或丧失;睾丸间质肿瘤可以较高比例地发生于不同程度萎缩睾丸中。 相似文献
8.
目的探讨隐睾患儿抗精子抗体(AsAb)与手术、绒毛膜促性腺激素(HCG)应用的相关性及术后血清雌二醇(E2)、睾酮(T)水平的变化。方法随机抽取隐睾患儿40例,分为应用HCG组(12例)及未用HCG组(28例)取腹股沟手术和正常同龄儿各20例作为对照组,检测各组血清AsAb、E2、T水平。结果各组患儿血清E2、T水平结果比较差异无统计学意义(P>0.05);在40例隐睾患儿组中IgG阳性率为53.57%,腹股沟手术组中IgG阳性率为15.00%,正常对照组无一例AsAb阳性;HCG治疗组与未用HCG治疗组AsAb阳性率比较差异无统计学意义(P>0.05)。结论隐睾患儿AsAb产生的机制可能与血睾屏障的破坏、内分泌紊乱等因素有关;应用HCG对AsAb的产生无影响。 相似文献
9.
10.
Cryptorchidism or undescended testis is one of the most common pediatric disorders of the male endocrine glands and the most common genital disorder identified at birth. Ultrasound is commonly ordered for boys with undescended testes prior to referral to a surgical specialist, but its sensitivity and specificity is insufficient to reliably localize non-palpable testes and thus confers unnecessary costs to the patient and the healthcare system. We review the ability of ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) to reliably locate undescended testes and emphasize whether diagnostic imaging should change the decision to operate or the surgical approach for boys with cryptorchidism. 相似文献