阿尔茨海默氏病和帕金森氏病对老年人认知功能及日常生活能力的影响分析

目的探讨阿尔茨海默氏病(AD)和帕金森氏病(PD)对老年人认知功能及日常生活能力的影响。方法对2000～2003年就诊于我院的53例AD、68例PD和60例正常人应用简易智力量表(MMSE)和日常生活能力量表(ADL)进行分析。结果AD组与对照组相比MMSE总分及各因子分、ADL总分及各单项分均有显著性差异(P<0.01):PD组与对照组相比除MMSE的记忆力和语言因子分以及ADL第13项目(打电话)外,其余均有显著性差异(P<0.05):AD组与PD组相比除ADL第7项(穿衣)外均有显著性差异(P<0.05)。结论AD和PD对老年人的认知功能和日常生活能力均有显著的影响,两者相比,AD对老年人的影响更严重、更广泛。     

Chlamydia trachomatis: time for screening?

Genital Chlamydia trachomatis infection is the leading cause of bacterial sexually transmitted disease in industrialised countries, particularly among young people. The consequences of chlamydial infection may involve urethritis, cervicitis, pelvic inflammatory disease, ectopic pregnancy, tubal factor infertility, epididymitis and prostatitis. In addition, chlamydial infection increases the risk of acquisition of human immunodeficiency virus and has been associated with cervical cancer. Although screening programmes exist in a number of countries, the continuously increasing prevalence of chlamydial infections demonstrates the necessity for health authorities to establish effective screening policies, and the importance of defining a comprehensive European screening policy is emerging.     

Biological functions of ceruloplasmin and their deficiency caused by mutation in genes regulating copper and iron metabolism

Ceruloplasmin, a multicopper ferroxidase, is involved in iron and copper homeostasis and integrates these metabolic pathways. Impaired biosynthesis of ceruloplasmin caused by gene mutations disturbs iron metabolism with iron deposition in different organs, especially in the basal ganglia, and severe neuronal damage. Dysfunction of ATP7B, a copper-transporting ATPase leads to the development of Wilson’s disease,i.e., multiple abnormalities in copper metabolism associated with reduced synthesis of holoceruloplasmin and biliary copper excretion controlled by both proteins. The lowest content of serum ceruloplasmin is observed in the most grave early neurological form of Wilson’s disease (according to N. V. Konovalov’s classification), which confirms the important role of ceruloplasmin in the striatal metabolism of catecholamines. Translated fromByulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 130, No. 8, pp. 124–133, August, 2000     

Niemann-Pick disease

Summary The results of a complex analysis of liver tissue are presented (four biopsy and two autopsy samples) obtained from six patients with Niemann-Pick disease (NPD) with a gross deficiency of sphingomyelinase (SMase) accompanied by a typical increase in sphingomyelin (SM). There were five cases of NPD type A (four of them with an atypical, prolonged course) and one case of type B. By means of lipid histochemistry it was possible to demonstrate SM storage both in hepatocytes and in the reticuloendothelial system (RES) of the liver (Kupffer cells and portal macrophages) and to show in two siblings with NPD type A a so-far undescribed centrilobular storage pattern. Enzyme histochemistry revealed a secondary deficit of nonspecific esterase activity and acid -galactosidase in liver storage macrophages and varying degrees of suppression of hepatocytic enzyme activities as a reaction to lipid storage of sudden onset. Ultrastructurally, it was possible to demonstrate cholesterol in lysosomes by using digitonin fixation, the involvement of Ito cells in lipid storage, the aggregation of storage lysosomes with certain other organelles and their occasional connections with the endoplasmic reticulum. The problems of possible lipid extraction during processing were considered as a cause of pronounced lysosomal electron-lucidity and of the ultrastructural identification of the participating lipopigment. The significance of the findings is discussed in relation to the existing classification and, particularly, to the stored lipid dilemma of cases of NPD type C.     

Histologic and immunohistochemical findings in the differential diagnosis of chronic lymphocytic leukemia of B-Cell type and lymphoplasmacytic/lymphoplasmacytoid lymphoma

Summary 114 cases of malignant lymphoma consisting chiefly of lymphocytes were classified by histology as chronic lymphocytic leukemia of the B-cell type (B-CLL) or lymphoplasmacytic/lymphoplasmacytoid lymphoma (LP immunocytoma) and investigated with the immunoperoxidase-bridge (PAP) method for the presence of heavy and light immunoglobulin chains. Fifteen cases were excluded because they showed a completely negative reaction, which might have been an artifact. Of the remaining 99 cases, 46 revealed polyclonal immunoglobulin-positive plasma cells only and could be clearly classified as B-CLL. In 33 cases there were a moderate or large number of plasma cells or plasmacytoid cells with monoclonal intracytoplasmic positivity. Two heavy chain classes were demonstrated in three other cases, and both light chain types were detected in one case. These 37 cases were finally classified as LP immunocytoma. Ten cases contained only a few monoclonal plasmacytoid cells and were interpreted as borderline cases between B-CLL and LP immunocytoma. Six cases have not yet been clarified — there was an inexplicable discrepancy between their histology and immunostaining.In LP immunocytoma, the heavy chain class demonstrated most often was the chain (27 cases). Light chains of the type were about 2.5 times as common as chains.The differential diagnostic criteria for distinguishing B-CLL from LP immunocytoma are discussed and compared. PAS-positive tumor cells are an almost definite criterion of LP immunocytoma. At present, a critical evaluation of the results of PAP immunostaining is the most reliable way to clearly distinguish B-CLL from LP immunocytoma.Supported by the Kind-Philipp-Stiftung     

The nephronophthisis complex

Summary The clinical and morphological findings are described in 27 children with nephronophthisis. Seventeen children were considered as sporadic cases. In 10 familial cases the presumed mode of inheritance was autosomal recessive. The clinical picture was rather uniform: polyuria-polydipsia, hyposthenuria, anemia, growth retardation, and azotemia with progressive renal failure. Six patients presented with tapeto-retinal degeneration. In a further seven children other ocular changes were detected. Two female siblings showed additional non-renal manifestations: mental retardation, pulmonary emphysema, skeletal anomalies, and congenital hepatic fibrosis.Renal histology displayed a chronic sclerosing tubulo-interstitial nephropathy with extensive tubular atrophy and dedifferentiation. Medullary cysts were frequently found in end-stage kidneys. Immunofluorescence was either non-specific or completely negative. On electron microscopy, the tubular basement membrane changes predominated: thickening, lamellation, splitting, and deposition of microfibrils within the increased basement membrane substance. Detailed light- and electron microscopic findings were non-specific but the overall morphologic picture was characteristic and even diagnostic in conjunction with the clinical presentation.A recurrence of nephronophthisis in transplanted kidneys has not been observed.The pathogenesis of nephronophthisis is obscure but with respect to the morphologic findings a primary or secondary tubular basement membrane defect seems very likely.Our experience suggests that nephronophthisis is a frequent cause of chronic renal failure in children and commonly associated with non-renal abnormalities. To avoid the separation of different syndromes presenting with a uniform renal disease but various non-renal manifestations, we suggest that the term nephronopthisis complex be used.Presented in part at the 63th Annual Meeting of the German Society of Pathology, Stuttgart 1979     

Dopamine and methionine-enkephalin in human brain

The contents of dopamine (determined radioenzymatically) and methionine-enkephalin (assayed by a radioimmunoassay) were measured in several areas of the human brain. The peptide was principally localized in dopamine-rich structures. In patients with Parkinson's disease, in contrast to the general dopamine deficiency, the reduction in methionine-enkephalin was restricted to the mesencephalon, putamen and lateral pallidum.     

TRP超家族与肾脏

TRP(Transient receptor potentical)家族是非选择性阳离子通道家族，近来发现其与肾脏关系密切，如调节肾小管离子转运，肾脏微循环等。TRP通道异常可导致遗传性局灶节段硬化性肾病（FSGS），常染色体显性遗传多囊肾(ADPKD)，低镁血症继发低钙血症(HSH)等，对TRP通道的进一步研究将有助于临床肾脏病的防治。     

PCR-based assays for the detection of monoclonality in non-Hodgkin's lymphoma: application to formalin-fixed,paraffin-embedded tissue and decalcified bone marrow samples

In crucial cases the diagnosis of non-Hodgkin's lymphoma (NHL) still represents a challenge to the pathologist since morphological criteria do not always help to distinguish between reactive and malignant lymphoproliferations. Clonality assays are a useful supplement since monoclonal cell proliferation is strong evidence for malignancy. The polymerase chain reaction (PCR) can be utilized to establish the clonal origin of B-or T-cell lymphocyte populations by amplification of rearranged immunoglobulin and T-cell receptor (TCR) genes. In the present study DNA was isolated from a variety of neoplastic and nonneoplastic formalin-fixed, paraffin-embedded lymph nodes (n=62), cutaneous tissue (n=9), samples of miscellaneous origin (n=11), and, reported here for the first time, decalcified bone marrow samples (n=35). These samples were submitted to PCR-based assays directed against the immunoglobulin heavy-chain (IgH), immunoglobulin light-chain (IgL), and TCR chain genes. The impact of various decalcifying agents on the ability to amplify DNA was investigated by PCR-based amplification of a single copy gene. Buffered and nonbuffered EDTA was found not to impede amplification of DNA fragments up to 300 bp in length. In lymph node and cutaneous specimens monoclonality was detected in 83% of B-NHL cases using a seminested PCR approach for the amplification of IgH, whereas the same approach gave rise to monoclonal bands in 80% of bone marrow samples. The subsequent amplification of IgL helped to raise the sensitivity of detection to 94%. Monoclonality was detected in seven of nine T-cell NHLs by amplification of TCR. Most of the false-negative results were related to DNA extracted from centroblastic-centrocytic lymphoma and lymphoplasmocytic immunocytoma (37% negative each). PCR-based rearrangement analysis of immunoglobulin and TCR chain genes should be used in diagnostic pathology for cases which are histopathologically and immunohistochemically questionable. The application of clonality assays to bone marrow samples previously decalcified with EDTA provides a new tool for the detection of minimal residual disease.Abbreviations BALT bronchus-associated lymphoid tissue - dNTP deoxynucleoside triphosphate - Ig immunoglobulin - IgH immunoglobulin heavy chain - IgL immunoglobulin light chain - MALT mucosa-associated lymphoid tissue - NHL non-Hodgkin's lymphoma - PCR polymerase chain reaction - TCR T-cell receptor