用荧光原位杂交技术快速诊断孕早期胚胎染色体数目异常

目的探讨荧光原位杂交(FISH)技术在快速产前诊断孕早期胚胎染色体数目异常中的价值.方法采用13,18,21,X和Y染色体特异性DNA探针,对46例孕47～65 d高危孕妇的绒毛间期细胞进行FISH检测,同时行常规染色体核型分析平行诊断.结果与染色体核型分析结果一致的染色体数目正常43例,异常3例(47,XY 21;47,XY 18和45,X).3例异常核型胚胎经治疗性流产后再分别对其绒毛行常规染色体核型分析,结果与产前诊断相符.结论FISH技术用于产前诊断孕早期胚胎染色体数目异常具有快速、准确等优点.     

ENDOSCOPIC ULTRASOUND GUIDED TRUCUT BIOPSY

Endoscopic ultrasound (EUS) is sensitive for staging gastrointestinal malignancies and pancreatic lesions. EUS‐fine‐needle aspiration (EUS‐FNA) offers a diagnostic accuracy of about 60–90% for pancreatic tumors and > 90% for lymph nodes. There are several limitations of EUS‐FNA including the need for on‐site cytopathology review. In addition, accuracy of cytologic review is hampered by the presence of blood, benign epithelial cells, desmoplasia, and well‐differentiated tumors. Furthermore, the small biopsy sample and destruction of tissue architecture limits the diagnostic sensitivity for GISTs and lymphomas. Many of these problems can be overcome with use of EUS trucut biopsy (TCB) needles. These large caliber, cutting needles acquire larger tissue samples allowing preservation of tissue architecture and histologic examination. Our recently described experience with EUS‐TCB initially in swine and later humans demonstrated the safety for acquiring histologic tissue representative of the target organs sampled enabling accurate diagnosis. These studies suggested greater diagnostic accuracy of EUS‐TCB for submucosal mass lesions and lymphoma and potentially the need for fewer needle passes for solid pancreatic neoplasms. In this paper we will review the current TCB literature, device design and technique, help troubleshoot potential problems, and offer opinion as to the utility and role of this new device.     

妊娠黄体瘤1例报告并文献复习

目的：探讨妊娠黄体瘤（LP）的误诊原因。方法：对1例典型LP病例进行全面病理学检查和组化及免疫组化染色，与正常卵巢黄体进行对比分析，并复习文献。结果：LP均发生于妊娠后期，临床无明显自觉症状，其病理形态学、组织学、免疫组化反应与正常卵巢黄体相似。多在剖腹产时偶然发现而误为卵巢肿瘤。结论；LP为妊娠后期卵巢黄素化细胞的结节状增生，并非真性肿瘤。妊娠期出现卵巢明显增大，应首先考虑到本病的可能性。必要时术中可作活检，以避免误切卵巢。     

115例乳腺癌临床分析

目的 :总结乳腺癌的发病规律、早期临床表现 ,提高乳腺癌的诊断及治疗水平。 方法 :对 115例乳腺癌患者的临床表现、诊断、治疗和预后进行回顾性分析。 结果 :红外线诊断占 78 3% (18/ 2 3) ,X线钼靶的诊断占93 5 % (2 9/ 31) ,细胞学诊断占 80 % (16 / 2 0 )。分期早期与晚期的雌激素受体 (ER)及抗凋亡相关基因 (Bag 1)的表达差异无统计学意义 (P >0 .0 5 ) ,腋淋巴结转移组与无淋巴结转移组Bag 1的表达差异有统计学意义 (P <0 .0 5 )。随访 89例 ,2年、5年生存率分别为 92 .1% (82 / 89)和 85 7% (5 4 / 6 3)。 结论 :本组乳腺癌患病年龄以 4 1～6 0岁年龄多见 ,红外线、X线钼靶、细胞学检查是诊断乳腺癌的主要手段。早诊断、早治疗是提高乳腺癌患者生存率的关键。     

原发性输尿管癌31例临床分析

目的：提高原发性输尿管癌的术前诊断水平。方法：对南京医科大学第一附属医院1989-2002年间收治的31例原发性输尿管癌的临床资料进行回顾性分析。结果：31例中，肉眼血尿22例(71．0％)，腰痛11例(35，5％)。B超、静脉肾盂造影(IVU)、CT和逆行造影检查的阳性率分别为输尿管腔内占位4例(13．0％)、输尿管腔内占位3例(11．5％)、膀胱或合并膀胱占位8例(36．4％)，输尿管充盈缺损6例(40．0％)。29例患者经手术治疗，其中13例行患侧肾、输尿管、膀胱袖状切除。结论：老年患者反复发作的腰痛及血尿应考虑原发性输尿管癌的可能，造影诊断对本病有较高价值，应作CT及MRU无创检查。     

儿童肺吸虫病79例临床分析

目的：通过分析儿童肺吸虫病的临床特征，提高对儿童肺吸虫病的认识，减少误诊。方法：对79例不同类型儿童肺吸虫病进行回顾性分析。结果：治疗后患者自觉症状消失，治愈率较高。结论：儿童不同类型肺吸虫病临床表现虽然复杂，但结合流行病学，经临床及血清学检查，就能及时确诊，79例儿童肺吸虫病药物治疗，疗效满意。     

肝外胆管癌的诊治分析

目的：探讨肝外胆管癌的诊断和治疗的体会。方法：回顾性总结手术治疗的32例肝外胆管癌的临床资料、手术方式、手术并发症及生存率，并复习相关文献资料。结果：本组病例获根冶性切除14例，姑息切除2例，胆道引流术16例；手术并发症10例(31.3％)，手术死亡1例(3．1％)。其中22例获定期随访，存活一年以上的有12例(12／22)，至今存活8例。结论:早期诊断、正确的评估、合理的术式选择能提高疗效。降低手术并发症及死亡率。     

婴儿脑损伤早期诊断和早期医学干预探讨

目的探讨婴儿脑损伤筛查专科门诊在早期发现婴儿脑损伤的作用以及神经发育疗法治疗脑损伤的效果。方法采用专科门诊筛查，早期发现脑损伤忠儿。对婴儿脑损伤进行早期诊断和早期综合康复治疗，以临床疗效评估。结果专科门诊对早期发现婴儿脑损伤有意义，88．1％的患儿由门诊筛查发现而被诊断，筛查中应着重注意小婴儿肌张力改变（48％）和运动发育落后（35％），脑损伤中不明原因占18％，1岁以内脑损伤诊断以中枢性发育障碍（89％）、运动落后（11％）为主，治疗以神经发育疗法为主的综合方法，20d一疗程，108例1岁以下脑损伤忠儿治疗效果：显效46．2％，好转47．2％，无效6．6％，总有效率为93.4％，6mo以下疗效显著高于6mo以上脑损伤忠儿。结论婴儿脑损伤专科门诊定期筛查能够早期发现患儿，CDD和MD作为婴儿脑损伤早期诊断的名称是可取的，治疗以神经发育疗法为主，治疗愈早，效果愈好，婴儿脑损伤早期诊断和早期医学干预方法可以在医疗保健机构推广和应用。     

宫颈上皮内瘤变108例临床分析

目的通过总结108例宫颈上皮内瘤变（CIN）的临床与预后，探讨分析CIN的诊断与治疗。方法归纳总结共108例各级CIN的临床特点及治疗方法，术前肉眼多点活检及阴道镜下活检与术后病理诊断的符合率，分析其预后。结果所有病人均有性生活史。除45／108（417％）无症状外，63／108（58．3％）有分泌物增多，或同房出血或阴道不规则流血。术前阴道镜下活检与术后病理诊断的符合率高于肉眼多．最活检符合率，但统计学差异无显著性，（P〉0．05）。根据病人要求、CIN级别及病变部位、范围采取不同的手术方式，其中14例随访超过5a，全部病人无1例复发，3、5a存活率均为100％。结论临床上对有性生活史的生育年龄妇女要警惕CIN，肉眼多点活检或阴道镜下活检可作为确诊手段，对不同的病人，依据病灶的性质，采用不同的手术方式，可避免复发，获100％的治愈率。     

Benign osteoblastoma of the occipital bone: Case report and literature review

We present a case of benign osteoblastoma of the occipital bone. Benign osteoblastoma is an uncommon primary bone tumor, which usually involves the vertebrae and the long bones. This tumor rarely develops in the calvaria, showing a preference for the temporal and frontal bones when it does. To the best of our knowledge, this case is only the eighth reported case of benign osteoblastoma confined to the occipital bone. A 20‐year‐old male presented with a mild tender mass lesion of the occipital area, just below the lambda. Plain X‐ray films and CT scans demonstrated an osteolytic mass surrounded by the sclerotic rim within the diploic space. MRI proved to be effective for the evaluation of the intracranial and intraosseous extensions of the tumor. However, it was very difficult to formulate a differential diagnosis against other osteoblastic tumors, or osteoid osteoma, in view of its radiological appearance. The final diagnosis was obtained by careful consideration of the histopathological characteristics of the tumor combined with its clinical and radiological features. Although generally regarded as benign, a complete resection is preferred over conventional curettage as this can guard against possible recurrence and malignant transformation.