小脑发育不良性神经节细胞瘤五例并文献复习

目的探讨小脑发育不良性神经节细胞瘤(Lhermitte-Duclos病,LDD)的临床表现、治疗、预后以及与Cowden综合征的关系。方法对5例经手术和病理证实的LDD患者的临床资料进行回顾性分析并文献复习。结果 LDD主要临床表现为颅内压增高和步态共济失调,其在MRI表现为具有特征性的平行条纹状结构。5例肿瘤镜下全切除2例,近全切除3例。术后无明显手术并发症,无死亡病例。3例患者伴有Cowden综合征的其他病变。5例患者平均随访4年,4例恢复正常工作,1例死于糖尿病并发症,未见肿瘤复发。结论 LDD术前诊断需根据病史、神经影像学检查综合分析,多可明确诊断。手术治疗是主要的治疗方法,可取得良好的疗效。患者可合并Cowden综合征,应行全身检查,以便早期发现其他部位疾病,并需长期随访。     

Oguchi's disease: two cases and literature review

Oguchi''s disease is a rare form of congenital stationary night blindness, associated with light-dependent golden fundus discoloration. In this report, we describe two cases of Oguchi''s disease, both of which had two characteristic features: congenital stationary night blindness and fundoscopic manifestation of the Mizuo–Nakamura phenomenon. In both patients, fundus examination revealed a metallic sheen throughout the retina, which disappeared after 2.5 hours of dark adaptation, suggestive of the Mizuo–Nakamura phenomenon. The characteristic electroretinogram (ERG) changes (i.e., un-recordable rod response and reductions of maximal response, oscillatory potentials, and flicker response) in these patients confirmed the clinical diagnosis of Oguchi''s disease. Furthermore, we discuss the results of our literature search for evidence concerning the diagnosis and pathogenesis of this rare disease. Further studies regarding the genes involved in phototransduction and light adaptation are needed to determine the pathogenesis of this rare disease.     

Granular cell tumour (myoblastoma): two cases and a review of the literature

Granular cell tumour is a rare neoplasm consisting of nests or ribbons of polyhedral cells with granular eosinophilic cytoplasm and small, dense nuclei. It may occur at various sites throughout the body. Two cases, one of the tongue and one of the rectum, are reported and the pathology and management of this uncommon neoplasm are discussed.     

腹腔镜下脐尿管癌根治术(附2例报告及文献复习)

目的 探讨腹腔镜下脐尿管癌根治术的方法及临床效果.方法 腹腔镜下行扩大性膀胱切除及双侧盆腔淋巴结清扫术.结果 2例手术均成功,手术平均时间110min,术中平均出血量120mL,术后病理为脐尿管黏液腺癌,术后3、4 d出院.结论 腹腔镜下脐尿管癌根治术具有创伤小、手术视野清晰、患者痛苦小、术后恢复快等优点.是值得推广的一种微创方法.     

帕金森叠加综合征2例报告及文献复习

目的:比较路易体痴呆及进行性核上性麻痹的临床特点,并与其他的帕金森叠加综合征相鉴别。方法:报告2例2003-10/2004-01宣武医院收治的帕金森病叠加综合征病例,进行相关的文献复习。结果:病例1表现为智能损害、反复出现的视幻觉、症状的波动性及帕金森病样的表现,临床诊断为路易体痴呆。病例2表现为体位不稳、垂直性的眼肌运动麻痹、中轴性的肌张力增高及智能减退等,临床诊断为进行性核上性麻痹。结论:对路易体痴呆和进行性核上性麻痹及时做出诊断,并与其他相关疾病做鉴别是非常重要的,可以为治疗的选择及护理提供有益的信息。     

成人斯蒂尔病的严重肝损害2例并文献复习

目的：提高对于成人斯蒂尔病合并严重肝损害的认识，了解其特点、预后及治疗。方法：分析2例成人斯蒂尔病并严重肝损害病例的临床资料，并结合相关文献进行分析。结果：成人斯蒂尔病合并肝损害通常肝功能损害比较轻微，但少数可以出现严重肝损害，2例患者氨基转移酶均明显增高达1000U／L以上，丙氨酸氨基转移酶较天门冬氨酸氨基转移酶增高明显，而胆红素正常，肝炎血清学阴性，无消化道症状，经治疗氨基转移酶迅速下降至正常，但有肝衰竭甚至死亡的相关报道。肝损害的机制目前多倾向于肝损害为疾病本身引起．也有学者认为与药物有关。结论：成人斯蒂尔病合并严重肝损害并不多见，临床表现缺乏特异性，预后较好，治疗方面应积极治疗原发病及应用保肝药物．避免使用肝损害药物     

Isoimmunization against CD36 (glycoprotein IV): description of four cases of neonatal isoimmune thrombocytopenia and brief review of the literature

BACKGROUND: Platelet CD36 (glycoprotein [GP] IV) deficiency occurs in 3 to 5 percent of persons of Asian or African ancestry. A subset of these individuals is at risk for immunization against CD36, but the magnitude of this problem and its significance in transfusion medicine have not yet been clarified. STUDY DESIGN AND METHODS: Clinical and laboratory aspects of neonatal thrombocytopenia involving five infants born to four CD36- mothers were characterized. The CD36 gene was sequenced in three mothers. The literature concerning isoimmunization against CD36 was reviewed and summarized. RESULTS: Isoantibodies reactive with CD36 on normal platelets and platelets from the fathers were identified in each of the four mothers. Two African-American mothers were homozygous for a 1264TG mutation in the CD36 gene. A mother of Italian ancestry was homozygous for a previously unidentified deletion of exons 1 through 3. Previously reported cases of isoimmunization against CD36 were reviewed and summarized. CONCLUSION: Isoimmunization against CD36 can cause neonatal isoimmune thrombocytopenia (NITP), refractoriness to platelet transfusions, and post-transfusion purpura. Immunization against this glycoprotein (GP) should be considered in patients with apparent alloimmune platelet disorders not explained by immunization against recognized platelet-specific alloantigens, especially in persons of African, Asian, and, possibly, Mediterranean ancestry.     

Castleman病7例临床病理分析

目的探讨Castleman病的临床诊断鉴别诊断及病理组织学特征。方法通过组织学、组织化学、免疫组化及基因重排克隆性分析等方法对Castleman病进行研究，并结合文献加以分析。结果7例Castleman病中5例为透明血管型，表现为增生的淋巴结内均匀的分布着大小相近的小淋巴滤泡；滤泡生发中心变小，其内可见泡状核的滤泡树突状细胞，有透明变性的小动脉穿入；外套层明显增厚，小淋巴细胞呈同心圆排列于血管周围，形成特征性的“洋葱”样同心圆结构，类似胸腺小体；滤泡间毛细血管增加，可有玻璃样变和纤维化；淋巴窦大部分消失或全部消失。2例浆细胞型特点是滤泡间大量的成熟浆细胞增生，有淋巴窦消失改变，滤泡内的毛细血管穿入，“洋葱”样改变不明显，滤泡间可见PAS染色阳性的无定型的嗜酸性物质沉积。其中1例浆细胞型部分区域淋巴细胞显著增生，弥漫成片，免疫组化显示κ链限制性表达，基因重排克隆性分析显示IG受体阳性，表明已转化为B细胞淋巴瘤。结论Castleman病是一种特殊类型的淋巴结增生性疾病，可发生于任何年龄，诊断时要与反应性滤泡性增生、淋巴瘤等进行鉴别，并注意是否发生淋巴瘤等恶性转化。     

异基因造血干细胞移植后淋巴组织增生性疾病3例报告并文献复习

目的 探讨异基因造血干细胞移植后淋巴组织增生性疾病的危险因素、临床表现、早期诊断和治疗方法.方法 回顾性分析3例亲属供者人类白细胞抗原(HLA)配型不完全相合异基因造血干细胞移植后发生淋巴组织增生性疾病患者的临床表现、实验室检查、治疗及预后.结果 2例患者分别在移植后65d和51 d出现高热,抗生素治疗无效,并很快出现全身淋巴结肿大,血清EB病毒(EBV)-DNA分别为3.50×108、1.33×107拷贝/ml;抗病毒治疗无效分别于移植后80 d和57 d死亡.另1例移植后52 d出现全身淋巴结肿大,不伴发热,血清EBV-DNA为7.24×106拷贝/ml,由于诊断早,及时治疗,抗病毒治疗15周后肿大淋巴结消退,血清EBV-DNA转阴.结论 移植后淋巴组织增生性疾病是异基因造血干细胞移植后的严重并发症之一,病死率高,临床医师应提高对其的认识,如能早期诊断、早期治疗,可明显改善预后.     

Travel-associated Legionnaires disease: clinical features of 17 cases and a review of the literature

We retrospectively investigated patients with Legionnaires disease (LD) who had been admitted to the Baskent University Alanya Teaching and Research Hospital, Ankara, Turkey, from January 2002 to September 2009. Twenty definitive cases were followed as LD, 17 (85%) of which were travel associated. The mean age was 61.5 ± 9.5 years (range, 39-77 years). Diabetes mellitus was found in 7 (41.2%) of those patients. Gastrointestinal or neurologic abnormalities were found approximately in two-thirds and relative bradycardia in 9 (52.9%). LD was severe in 11 (64.7%) patients, which required intensive care unit follow-up. Although appropriate antibiotic therapy was initiated in all patients on admission day, 4 (23.5%) deaths occurred. In conclusion, clinicians should remain vigilant about the diagnosis of LD in patients with community-acquired pneumonia, especially in the presence of extrapulmonary involvement, risk factors for LD, and a history of recent travel. As in our cases, mortality is still high in sporadic cases despite early appropriate treatment.     

皮肤Rosai-Dorfman病2例报告并文献复习

目的 探讨皮肤Rosai-Dorfman病(CRDD)的临床病理学特征、免疫学表型和鉴别诊断.方法 分析2例CRDD患者的临床表现,对标本进行病理学和免疫组织化学染色观察并文献复习.结果 CRDD镜下病理特征为真皮层较多的体积较大的组织细胞浸润,呈多边形或椭圆形,胞质丰富,淡嗜酸性,胞浆内吞噬有数量不等的淋巴细胞、浆细胞或其他炎细胞,免疫组化染色显示组织细胞表达S-100蛋白、CD68,但CD1a和CD34表达阴性.结论 CRDD病是一种少见的组织细胞增生性病变,在病理诊断方面,易误诊为其他疾病,应与其他组织细胞增生性疾病相鉴别.     

支气管色素沉着纤维化与结核感染(3例报道并文献复习)

近年来陆续有文献报道无暴露于煤尘环境和吸烟史的女性患者,在支气管镜检查中,其支气管镜特点为支气管黏膜,在支气管镜检查中,其支气管狭窄或闭塞,而胸部CT有纵隔或肺门淋巴结肿大或钙化[1-3],并与结核感染有关.     

Primary pneumococcal peritonitis: description of a case and review of the literature

Streptococcus pneumoniae causes lobar pneumonitis but primary peritonitis can occur in cyrrotic adults as well as in children affected by nephrosis and immunopathies. In young females peritonitis can be the consequence of infection localized at genital organs. Pneumococcal sepsis is becoming rare with the antibiotic era but resistance to penicillin is actually frequent and is becoming a problem for elderly. We report a case of a young woman affected by spontaneous primary peritonitis and pneumococcal sepsis. The prevalent symptoms were gastrointestinal: diarrhea and emesis. No infectious foci could be detected on imaging studies and during surgery.     

卡氏肺囊虫性肺炎——附2例报告及文献复习

本文报告2例卡氏肺囊虫性肺炎。临床上主要表现为发热、咳嗽和抗生素治疗无效。X线和CT检查示肺部点片状阴影。病理组织学特点是间质性肺炎、肺泡或支气管内泡沫状物质沉积，六胺银染色在泡沫状物质中查见圆形或半月形，直径6～8μm的卡氏肺囊虫虫体。本病是由卡氏肺囊虫感染引起的一种特殊的间质性肺炎，常见于营养不良和免疫功能低下者，尤其是AIDS患者。确诊靠病原体检查，包括痰和组织标本的Giernsa染色、TBO染色、PAS染色、GMS染色、免疫组化和PCR。据此可与肺泡蛋白沉积症、粟粒性肺结核、军团菌性肺炎、霉菌性肺炎、细支气管肺泡癌、特发性肺间质纤维化等鉴别。