B超引导经皮肝穿刺活检术诊断尼曼匹克病一例

尼曼匹克病为常染色体隐性遗传的先天性糖脂代谢性疾病,根据临床表现可分为5型,其中急性神经型(A型或婴儿型)发病率最高。本文分析一例尼曼匹克病患儿的诊疗经过,患儿表现为起病隐匿、肝脾肿大及神经系统损害,经B超引导经皮肝穿刺活检后确诊尼曼匹克病。     

非霍杰金氏淋巴瘤骨髓侵犯的骨髓涂片和骨髓病理分析

目的:探讨非霍杰金淋巴瘤(NHL)骨髓侵犯发生率与临床分期和病理分型的关系。方法:160例NHL患者均做骨髓涂片和骨髓活检,48例骨髓侵犯病例做免疫组织化学染色。结果:骨髓涂片和活检侵犯率分别为18.7%和30.0%,骨髓涂片噬血现象多见Ⅳ期。骨髓侵犯的NHL病理组织分型以B细胞为主,骨髓侵犯模式以弥散型为主。结论:骨髓活检可提高淋巴瘤骨髓侵犯的诊断率,噬血现象出现和临床分期有关。     

宏基因组学诊断播散型组织胞浆菌病1例

播散型组织胞浆菌病是一种进行性肺外疾病好发于免疫缺陷者。该病诊断的应结合组织胞浆菌病的高危因素(免疫抑制剂、高龄、高风险的暴露等)与临床表现。本文报道一例播散型组织胞浆菌病但免疫功能健全的病例,其表现为亚急性起病,后期病程进展迅速,骨髓涂片及宏基因测序诊断为播散型组织胞浆菌病。予以两性霉素B去氧胆酸盐及伊曲康唑治疗后病情明显好转。     

4例线粒体脑肌病的临床分析

目的:探讨线粒体脑肌病的临床特征,为其临床诊断提供帮助。方法:对4例线粒体脑肌病患者的临床与病理资料进行了回顾性分析。结果:4例患者均有身材矮小、智力下降、有视力或听力障碍、曾反复被诊断为病毒性脑炎的特点。4例患者血乳酸水平均升高,头部影像学有异常表现,肌肉活检均可见特征性的蓬毛样红纤维。结论:4例线粒体脑肌病患者临床表现貌似病毒性脑炎,结合临床肌肉活检可明确诊断。     

54 例慢性淋巴细胞白血病的临床回顾性分析*

摘要目的：本研究旨在探讨慢性淋巴细胞白血病(CLL)的实验室检查特点及特征性临床表现。方法：利用血细胞分析仪、流式细 胞术、骨髓形态分析及R显带技术等对我院2002 年4 月-2012 年4 月收治的54 例慢性淋巴细胞白血病患者的相关临床资料如 血细胞计数、骨髓形态、染色体及免疫表型等进行检测并对结果进行回顾性分析。结果：CLL多发于老年患者,男性多见,中位年 龄65 岁（45-82 岁）。大部分患者初诊时可出现典型的临床表现,37 例（68%）患者初诊时淋巴结大,49 例（91%）初诊时白细胞≥ 10× 109/L,淋巴细胞绝对值≥ 5× 109/L。13 例（24%）初诊时肝脾或者脾大,17 例（31%）初诊时乏力、消瘦。34（63%）例患者可见典 型的CLL免疫表型,CD5、CD19. CD23、CD20 的阳性率分别为90%、87%、72%、67%。32 例患者染色体检测结果表明：13q-2 例, 17p-2 例,11q-1 例,+12 有1 例,6q-1 例,t(14,16)1 例。2 例患者发生了自身免疫性溶血性贫血（AIHA）。1例患者发生了Richter转 化,肿大淋巴结活检显示部分区域为弥漫性大B细胞淋巴瘤,其高表达CD20、CD19、CD22。结论：慢性淋巴细胞白血病具有其典 型的临床表现、免疫表型及遗传学改变,并且对诊断及治疗有重要意义。     

图像分析系统在小儿白血病细胞DNA定量分析中的研究

白血病细胞 DNA图像分析可为白血病的诊断、了解白血病细胞的分化程度、判断疗效 ,提供一个新的生物学定量参考指标。本文采用真彩色图像分析系统对 33例小儿白血病和 1 0例非血液病的骨髓涂片进行了 DNA定量分析研究 ,现将结果报告如下。1 .对象和方法1 .1　受检对象　 90～ 96年本院住院患儿首次骨髓涂片　 ( 1 )急性淋巴细胞白血病 ( ALL组 ) 1 8例 ,男性 1 0例、女性 8例、年龄 1～ 1 2岁 ,平均 5 .5岁。其中 L - 1型 1例、 L- 2型 1 5例、 L- 3型 2例。 L-2型病人 3例各有 4次骨髓涂片 ,可供动态分析。( 2 )急性非淋巴细胞白血病…     

细胞内胆固醇水平调节研究进展

细胞内胆固醇水平动态平衡是细胞发挥生理功能的重要保障.破坏细胞内胆固醇水平动态平衡不仅增加心血管系统疾病患病风险,而且与许多代谢性疾病相关.细胞内胆固醇水平主要受胆固醇生物合成、摄取、流出和酯化的调节.3-羟基-3-甲基-戊二酰基辅酶A还原酶、角鲨烯单加氧酶和固醇调节元件结合蛋白2是胆固醇合成关键因子.尼曼-匹克C1型...     

骨髓中检出组织胞浆菌1例

组织胞浆菌（Histoplasma capsulatum）是一种深部真菌,可引起人体深部组织胞浆菌病。最近我们从1例患者骨髓涂片瑞氏染色、PAS染色、骨髓病理活检中检出组织胞浆菌,现予报道。     

药物性肝损害的病理学特征分析

目的:了解肝活检证实的药物性肝损害临床表现、生化学指标及病理学表现等方面的特征.分析生化学指标与肝组织病理学炎症程度分级、纤维化程度分期有无相关性.方法:筛选58例肝活检证实的药物性肝损害患者,分析其临床表现、生化学指标及病理学表现的特征.并对其生化学指标与病理学炎症程度分级(G)、纤维化程度分期(S)分别进行相关性分析.结果:患者年龄19-66岁,平均(38.05± 12.04)岁,其中女性46例,占79.31％.最常见的致肝损害药物为不明具体成分的中药(占32.76％),最常见的临床表现包括乏力(81.03％)、纳差(75.86％)、黄疸(53.45％).病理学主要表现为混合性炎细胞浸润(94.83％)、凋亡小体(84.48％)、界面炎(81.03％)、肝细胞点灶状坏死(74.14％)、肝细胞水样变性(58.62％).生化学指标(ALT、AST、ALP、GGT、TBIL、PT)与病理学炎症程度分级(G)、纤维化程度分期(S)无相关性,P＞0.05,偏回归系数无统计学意义.按照不同炎症程度的分级或分期进行分组分析,各组间生化学指标(ALT、AST、ALP、GGT、TBIL、PT)之间无区别,P＞0.05,差异无统计学意义.结论:DILI患者生化学指标与肝组织病理学分级、分期无相关性.生化学指标不能替代病理学检查,因此条件允许的情况下尽早行肝穿刺组织病理学检查是明确诊断、及时治疗的最好办法.     

30例骨髓坏死的病理和临床分析

目的:分析骨髓坏死病因、临床特点、发病机制,为疾病防治提供借鉴。方法:回顾性分析30例骨髓患者病历资料,分析病理、临床表现特征。结果:男女性别比比1:1.73,年龄22~71岁,男女年龄差异无统计学意义(P0.05)。恶性疾病29例、良性疾病1例,出现症状至确诊时间2-184d、平均(23.4±8.4)d;感染25例,其中呼吸系统感染18例,首发症状以骨痛为主,伴随症状以发热、肢体关节痛、头晕乏力、出血为主,普遍伴有淋巴结肿大、肝脾肿大,或有呼吸、循环障碍;贫血26例,普遍有血小板计数降低、外周血相变化,尿常规或可见尿蛋白、红细胞,普遍伴有LDH上升,其余指标也可出现异常,骨X线病理改变14例,骨髓检查见明显改变,多有臭味,瑞氏染色异常,轻度4例、中度7例、重度19例。结论:骨髓坏死的病理、临床表现可出现明显异常,但并无特异性临床表现,应据原发病选择合适的观测目标,发现异常及时行病理检查。     

Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation.

Allogenic bone marrow transplantation was carried out on a 3 year old girl with Niemann-Pick disease type B. Successful engraftment was achieved, and nine months after the procedure there was definite clearing of the sphingomyelin from the liver and pronounced clearing from the bone marrow. Any patient with Niemann-Pick disease type B complicated by early or severe hepatic impairment should be considered for bone marrow transplantation.     

Early diagnosis in Niemann-Pick disease

Hepatosplenomegaly, observed on routine physical examination of a 3-month-old French-Canadian infant, was the first evidence for the possibility of Niemann-Pick disease. Vacuolated foam cells filled with phospholipid material were found in liver and bone marrow biopsy material. The absence of sphingomyelinase activity in isolated peripheral leukocytes and cultured skin fibroblasts confirmed the diagnosis. The parents'' leukocytes displayed significantly less activity than was found in control cells. Exact and early confirmation of the diagnosis of Niemann-Pick disease is of prime importance for it allows the physician to offer a more specific prognosis, to provide more precise genetic counselling for the couple at risk and, finally, to offer the possibility of prenatal diagnosis.     

Primary cervical lymphoma: the role of cervical cytology

Two cases of primary malignant lymphoma of the uterine cervix are reported. Both were confirmed by histology as high grade B cell lymphomas. In one case, the diagnosis was made on a second colposcopic biopsy after an initial cervical smear and colposcopic biopsy were negative. In the second case, dyskaryotic cells of uncertain type were identified in a cervical smear taken at colposcopy performed as part of follow up for previous cervical intraepithelial neoplasia (CIN)I. The cytologic features and differential diagnosis of this rare cervical neoplasm are discussed, with emphasis on the role of the Papanicolaou smear in the initial diagnosis of this tumour.     

Extra copy of 20q deletion, acute myelomonocytic leukemia (M4) and Niemann-Pick disease

A 59-year-old hypertensive white male was diagnosed with acute myelogenous leukemia (AML), M4. A bone marrow aspirate showed a karyotype of 46,XY,del(20)(q11.2q13.3)[12]/ 47,XY,del(20)(q11.2q13.3)x2[8]. The majority of cases with 20q deletion are associated with myeloid disorders; however, an extra copy of the 20q deletion has rarely been reported. The patient expired seven days after admission to the hospital. At autopsy hepatosplenomegaly was present. Many foamy macrophages with bubbling cytoplasm in the spleen, liver, bone marrow and lymph nodes were suggestive of Niemann-Pick disease, type E. AML has not previously been reported with Niemann-Pick disease.     

Skin maculae,chronic diarrhea,cachexia, and splenomegaly—Late presentation of the first autochthonous case of visceral leishmaniasis in Tanzania

A 20-year-old man from Simanjiro district in northern Tanzania presented with a 3-year history of splenomegaly, fatigue, cachexia, skin maculae, and recent onset of watery diarrhea at Kilimanjaro Christian Medical Centre (KCMC) in Northern Tanzania. Due to laboratory findings of pancytopenia, diagnostic workup included bone marrow aspiration cytology and biopsy. Although the rapid test (IT LEISH, rK39 RDT) was negative, blood smear showed amastigote forms of leishmaniasis in macrophages. Repeat bone marrow aspiration and PCR eventually confirmed visceral leishmaniasis (VL). The patient denied travel to known endemic areas of VL. Treatment was initiated with Amphotericin B, but the patient died on the fourth day of treatment from respiratory insufficiency. An autopsy revealed massive organ manifestations of VL. This is the first reported autochthonous case of VL in Tanzania. Clark and colleagues detected the vector Phlebotomus martini in Northern Tanzania in 2013, in a region bordering the district of our patient. The negative rapid test draws attention to the fact that sensitivity and specificity were found to be low in East African VL patients as displayed earlier by a Kenyan study. Therefore, tissue samples (spleen or bone marrow) remain necessary for diagnosis. The variety of symptoms in this presented case was remarkable, including the occurrence of post-kala-azar dermal leishmaniasis (PKDL) and VL at the same time. This has been described in East African VL cases before as well as the occurrence of chronic diarrhea. An elongated undiagnosed period likely led to a mixed clinical picture that included hepato-splenomegaly, PKDL, cachexia, and diarrhea.     

Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases

The metabolism of [stearoyl-1-14C]- and [choline-methyl-14C]sphingomyelin, [stearoyl-1-14C]ceramide-1-phospho-N,N-dimethylethanolamine (demethylsphingomyelin) and [choline-methyl-14C]phosphatidylcholine was measured 1, 3 and 5 days after uptake from the media of cultured skin fibroblasts. This was done to measure the relative contributions of lysosomal sphingomyelinase and plasma membrane phosphocholine transferase on the metabolism of sphingomyelin, a component of all cell membranes. By using cell lines from controls and from patients with Niemann-Pick disease and other lysosomal storage diseases, it was concluded that a significant portion (10-15%) of the observed degradation of sphingomyelin is due to exchange of the phosphocholine moiety producing phosphatidylcholine. Although cell lines from type A and B Niemann-Pick disease have only 0-2% of lysosomal sphingomyelinase activity measured in vitro, three cell lines from type B Niemann-Pick disease could metabolize 54.4% of the labeled sphingomyelin by day 3 while cell lines from type A Niemann-Pick disease could only metabolize 18.5% by day 3. This compares to 86.7% metabolized in control cells by day 3. Cells from one patient with juvenile Niemann-Pick disease and one with type D Niemann-Pick disease metabolized sphingomyelin normally while cells from two other patients with juvenile or type C Niemann-Pick disease could only metabolize 58.2% by day 3. Cells from patients with I-cell disease and 'lactosylceramidosis' also demonstrated decreased metabolism of sphingomyelin (55.1 and 54.9% by day 3, respectively). Cells from the patient with Farber disease accumulated [14C]stearic acid-labeled ceramide produced from [14C]sphingomyelin. Studies with choline-labeled sphingomyelin and phosphatidylcholine demonstrated that phosphocholine exchange takes place in either direction in the cells, and this is normal in Niemann-Pick disease. Studies in cells from patients with all clinical types of sphingomyelinase deficiency have led to new methods for diagnosis and prognosis and to a better understanding of sphingomyelin metabolism.     

Accurate Differentiation of Neuronopathic and Nonneuronopathic Forms of Niemann-Pick Disease by Evaluation of the Effective Residual Lysosomal Sphingomyelinase Activity in Intact Cells

Abstract: Niemann-Pick disease types A and B are two clinical forms of an inherited lysosomal storage disorder characterized by accumulation of sphingomyelin due to deficient activity of the lysosomal enzyme, acid sphingomyelinase. Patients with both types have hepatosplenomegaly, but only those with type A have nervous system involvement leading to death in early infancy. The residual activities of lysosomal sphingomyelinase in types A and B have never been well characterized because of limitations in both in vitro enzymatic assays and loading tests on intact cells. To evaluate the effective level of sphingomyelinase activity, intact, living cultured Epstein-Barr virus-transformed lymphoid cells were incubated with a radiolabeled sphingomyelin that was first associated to human low-density lipoproteins. This lipoprotein-associated sphingomyelin was targeted to lysosomes, thereby permitting selective hydrolysis by the lysosomal sphingomyelinase. Short-term pulse-chase experiments allowed the determination of the initial rates of degradation; in normal cells, the half-time of sphingomyelin degradation averaged 4.5 h. Whereas cells from the severe neuronopathic type A form of Niemann-Pick disease exhibited about 0.15% residual sphingomyelinase activity, cells from patients with the visceral type B form exhibited about 4%, i.e., 27 times more. Cells from heterozygous Niemann-Pick subjects showed about 70% residual activity. These results provide the first approach to measuring the effective activity of a lysosomal enzyme and represent an accurate method for the differential diagnosis of Niemann-Pick disease types A and B. They also support the hypothesis of relationships among the effective in situ residual enzyme activity, the amount of stored substrate, and the severity of the ensuing lysosomal storage disorder.     

Needle biopsy in diagnosis of prostatic cancer

Four methods available for the diagnosis of carcinoma of the prostate-digital rectal evaluation, prostatic smear, needle biopsy and open perineal or transurethral biopsy-were studied and correlated.One hundred ten patients with clinical indications of cancer of the prostate were subjected to needle biopsy and open perineal or transurethral biopsy. Seventy of the same patients had prostatic smear examination. Using the open perineal biopsy or the positive transurethral biopsy as the standard, the accuracy of prostatic palpation, prostatic smear and needle biopsy were obtained.A high degree of correlation (74 per cent) was demonstrated between digital rectal evaluation and positive surgical biopsies in both early and late cases. There were 17 false positive clinical diagnoses. The prostatic smear showed an overall correlation of 45 per cent when compared with the results of positive surgical biopsy. The overall accuracy of needle biopsy was 73 per cent. However, in the last 39 cases, including eight in which the carcinomas were of groups A and B (curable), the needle accuracy was 100 per cent. When there is clinical indication of malignant disease of the prostate, needle biopsy of the lesion is warranted and should be done before definitive or palliative treatment is undertaken.     

Niemann-Pick disease: lipid storage in bone marrow macrophages

A histochemical study of lipids in bone marrow smears was performed in a series of 15 cases of Niemann-Pick disease (NPD). It revealed significant differences in the amount of lipids stored in macrophages of sphingomyelinase (SMase) deficiency (types A, B) and type C. Early deposition of uniform, anisotropic droplets of sphingomyelin (Maltese-cross birefringence) in lysosomes was a feature of a 9-member group of SMase deficiency (types A, B). The type C group (six cases) was characterized by a remarkable difference in the degree of phospholipid, mainly sphingomyelin, deposition. The total amount of phospholipids was small on average, and very often inversely proportional to pronounced structural storage changes. This indirect relationship was most prominent in the early phase of the disease and grew less prominent as the disease progressed further. The stored lipid was primarily isotropic. In longer lasting cases of both categories (SMase deficiency and type C) a considerable part of the storage cell population displayed ceroid deposition giving the appearance of a 'sea-blue histiocyte' independent of the type of NPD, but with definite predominance in SMase deficiency. The diagnostic value of the findings is discussed, and some pathogenetic conclusions suggested, particularly as regards type C. Lipid histochemistry of bone marrow smears is highly recommended as it represents a simple but highly efficient approach, capable of yielding valuable diagnostic information.