Abstract Long-term use of levodopa in the treatment of Parkinson's disease can cause motor complications, which seriously impair the patients'motor function, reduce the quality of life, and aggravate the functional disability. Since there has been no effective treatment for motor complications, clarifying the influencing factors and prevention methods are conducive to reducing the risk of incidence and improving the quality of life of the patients. This paper summarizes the types and mechanism of motor complications of Parkinson's disease, the influencing factors ( levodopa dose, onset age, Helicobacter pylori infection and high protein diet ) and preventive measures ( psychological intervention, low protein diet, rehabilitation exercise and drugs ), so as to provide reference for the prevention and control of the disease.

OBJECTIVETo investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype.

METHODSClinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated.

RESULTSPHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000).

CONCLUSIONSMissense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.

Adolescent ; Child ; Child, Preschool ; Familial Hypophosphatemic Rickets ; genetics ; Female ; Humans ; Infant ; Male ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase ; genetics ; Retrospective Studies

OBJECTIVETo investigate the difference of the prevalence of t(11;18)(q21;q21)/API2-MALT1 fusion gene between gastrointestinal mucosa-associated lymphoid tissue (MALT) lymphoma and diffuse large B cell lymphoma (DLBCL).

METHODSA total of 57 cases gastrointestinal MALT lymphomas (38 gastric and 19 intestinal lymphomas), 32 DLBCL (28 gastric and 4 intestinal lymphomas) and 7 cases gastric DLBCL accompanied MALT lymphoma were collected from the Cancer Hospital of Fudan University. API2-MALT1 fusion gene was detected by fluorescent in situ hybridization (FISH) using both dual fusion translocation and break apart probes.

RESULTSAmong gastrointestinal MALT lymphomas, API2-MALT1 fusion gene was found in 12 of 57 cases (21.1%, 10 gastric and 2 intestinal lymphomas). In contrast, the fusion gene was not found in all 32 DLBCL and 7 gastric DLBCL with MALT lymphoma component. There was statistical significant difference between two groups (chi(2) = 9.383, P = 0.001).

CONCLUSIONSAPI2-MALT1 fusion gene is a distinctive genetic aberration in MALT lymphomas, and is not present in DLBCL. The findings suggest that gastrointestinal tract MALT lymphomas with API2-MALT1 fusion gene may not transform into DLBCL, which may represent primary lymphoma or transformed API2-MALT1 negative MALT lymphomas.

Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 18 ; Gastrointestinal Neoplasms ; genetics ; metabolism ; Humans ; Lymphoma, B-Cell, Marginal Zone ; genetics ; metabolism ; Lymphoma, Large B-Cell, Diffuse ; genetics ; metabolism ; Oncogene Proteins, Fusion ; genetics ; metabolism ; Translocation, Genetic

OBJECTIVETo study the clinicopathologic features and immunophenotype of centrally necrotizing carcinoma (CNC) of breast; and to study its relationship with basal-like breast cancer.

METHODSThe clinical and pathologic characteristics of 35 cases of CNC were analyzed. Immunohistochemical study for estrogen receptor, progesterone receptor, HER2, CK8/18, 34betaE12, CK5/6, CK14, CK17, smooth muscle actin, p63, vimentin and epidermal growth factor receptor was performed using EnVision method. The surival information of 10 case were obtained.

RESULTSThe age of patients with CNC ranged from 30 to 82 years (mean = 54.2 years). Macroscopically, all tumors were relatively circumscribed, with a mean diameter of 2.4 cm. Histologically, there was a prominent central, necrotic or acellular zone surrounded by a narrow rim of viable tumor cells. The central necrotic foci had the following morphologic patterns: (1) coagulative tumor necrosis associated with various degree of fibrosis or hyaline degeneration (24 cases), (2) predominance of fibrous and scar tissue, with small amount of necrotic debris (8 cases), and (3) infarction (3 cases). The peripheral zone of tumor cells showed features of grade 3 invasive ductal carcinoma in 32 cases and grade 2 in 3 cases. Twenty cases of CNC were associated with ductal carcinoma in-situ. A component of invasive micropapillary carcinoma was identified in 5 cases. Peripheral lymphocytic infiltrates were seen in 17 cases. Immunohistochemical study of 31 cases showed that the expression rate of basal-like markers (83.9%, 26 cases) was higher than that of myoepithelial markers (38.7%, 12 cases). The percentage of basal-like subtype (64.5%, 20 cases) was higher than luminal-A (9.7%, 3 cases), luminal-B (9.7%, 3 cases), HER2 over-expression (12.9%, 4 cases) and null (3.2%, 1 case) subtypes. In 20 cases of basal-like carcinoma, the expression ratio of CK5/6 was highest amongst basal-like markers (18 cases), the other markers ratios of CK17, CK14 and epidermal growth factor receptor were 8/10, 14/19 and 8/16, respectively. Follow-up data were available in 10 patients. The follow-up duration ranged from 15 to 42 months (mean = 21.5 months). The median disease-free and overall survivals were 14.0 and 18.0 months, respectively. Disease progression (as defined by the presence of recurrence, metastasis or tumor-related death) occurred in 9 patients. The mean and median time to disease progression was 16.6 and 13.0 months, respectively.

CONCLUSIONSCNC is a rare subtype of breast carcinoma and has distinctive, easily discernible morphologic features. The majority of CNC exhibits basal-like immunophenotype and carries a poor prognosis. CNC is the typical representative of basal-like breast cancer.

Actins ; metabolism ; Adult ; Aged ; Aged, 80 and over ; Breast Neoplasms ; metabolism ; pathology ; surgery ; Carcinoma in Situ ; metabolism ; pathology ; surgery ; Carcinoma, Basal Cell ; metabolism ; pathology ; surgery ; Carcinoma, Ductal, Breast ; metabolism ; pathology ; surgery ; Female ; Follow-Up Studies ; Humans ; Immunophenotyping ; Keratin-14 ; metabolism ; Keratin-5 ; metabolism ; Lung Neoplasms ; secondary ; Lymphatic Metastasis ; Mastectomy ; methods ; Middle Aged ; Necrosis ; Neoplasm Recurrence, Local ; Survival Rate

OBJECTIVETo investigate the clinicopathologic feature, immunophenotype and differential diagnosis of cutaneous Rosai-Dorfman disease (CRDD).

METHODSClinical manifestation, morphologic features and immunohistochemical staining were studied in 8 cases of CRDD.

RESULTSAll 8 patients presented with multiple papules, nodules and/or coalescent patches or plaques distributing over the extremities or trunk, without lymphadenopathy or other systemic abnormalities. Microscopically, the lesions were located intradermally and/or subcutaneously. CRDD was characterized by the presence of S-100 positive histiocytic cells exhibiting emperipolesis, accompanying with infiltration of mixed inflammatory cells. Fibrosis, somewhere in vague storiform pattern due to stromal responses, with distribution of individual neutrophil microabscess was seen in cases with a long course of illness. Dilated vascular spaces in dermis containing numerous large typical histiocytes were seen in 2 cases.

CONCLUSIONSCRDD is a benign, persistent proliferative disease of histiocytes. Systemic involvement is rare, outcome favorable. It should be differentiated from other types of histiocytosis, dermatofibrosarcoma protuberans, xanthoma and lymphoproliferative disorders. Immunohistochemical staining for S-100 protein and CD68 is helpful in making a correct diagnosis.

Aged ; Antigens, CD ; metabolism ; Antigens, Differentiation, Myelomonocytic ; metabolism ; Diagnosis, Differential ; Female ; Histiocytosis, Sinus ; metabolism ; pathology ; surgery ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Prognosis ; S100 Proteins ; metabolism ; Skin Diseases ; metabolism ; pathology ; surgery

OBJECTIVETo study the clinicopathologic features, immunophenotype and prognosis of primary cutaneous anaplastic large cell lymphoma (CALCL).

METHODSHistopathologic evaluation and immunohistochemical study by Envision method were carried out in 44 archival cases of CALCL. The clinical information and follow-up data were analyzed.

RESULTSThe patients presented with skin nodules, masses or plaques, sometimes associated with ulceration. The commonest sites of involvement were the extremities. Follow-up data were available in 39 patients. The overall survival rate was 87.2% (34/39). Disease relapses were detected in 46.2% (18/39) of the patients. Statistical analysis indicated that patients older than 50 years of age or with no less than two involved anatomic sites were more likely to have disease relapses (P < 0.05). Histologically, 31 cases were classified as common variant, 6 cases as small cell variant and 7 cases as neutrophil/eosinophil-rich variant. Immunohistochemical study showed that the rates of expression of CD30, CD45, CD45RO, CD43, CD3, cytotoxic protein and epithelial membrane antigen were 100% (44/44), 91.2% (31/34), 82.6% (19/23), 94.7% (18/19), 70.0% (28/40), 73.3% (22/30) and 31.8% (7/22), respectively. The CD4(+)/CD8(-), CD4(-)/CD8(+) and CD4(-)/CD8(-) immunophenotypes were found in 58.3% (21/36), 22.2% (8/36) and 19.4% (7/36) of the CALCL cases, respectively. Only one case (3.7%) expressed CD56.

CONCLUSIONSCALCL is a form of low-grade primary cutaneous T-cell lymphoma with a wide spectrum of clinicopathologic pattern. Special variants of CALCL should not be confused with other types of cutaneous lymphomas and inflammatory lesions. CALCL patients older than 50 years of age or with no less than two involved anatomic sites are more likely to have disease relapses.

Adult ; Age Factors ; Aged ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Immunophenotyping ; Ki-1 Antigen ; metabolism ; Lymphoma, Large-Cell, Anaplastic ; metabolism ; pathology ; Lymphoma, Primary Cutaneous Anaplastic Large Cell ; drug therapy ; metabolism ; pathology ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Proportional Hazards Models ; Skin Neoplasms ; drug therapy ; metabolism ; pathology ; Survival Rate ; Young Adult

Objective To investigate the expression and clinical value of immunohistochemistry in endometrial stromal tumors.Methods Immunohistochemical technique(Envision method)was applied to de- tect the expression of CD_(10),SM-MHC,h-caldesmon,AE1/3,CD_(99),Ki-67,CD_(34),c-kit,ER and PR in 15 cases of endomertrial stromal sarcoma and 3 metastases.The clinical pathological data,including the histological characteristics,histochemical and immunohistochemical staining features,complication,differential diagnosis and prognosis of endometrial stromal tumours were analyzed.Results Among the 18 cases of endometrial stromal tumor,17 cases had shown positive for CD_(10),including 13 cases diffuse positive and 4 muitifocal,7 cases with smooth muscle differentiation,3 cases with epithelial differentiation,7 cases with sex-cord differ- entiation.13 cases of ER and 16 cases of PR were positive expression in endometrial stromal sarcoma.Ki-67 in range 36 %～78 %.Conclusion Endometrial stromal tumour can display multi-differentiation.They show various pathomorphological features,Smooth muscle and sex-coed differentiation,the most common types. CD_(10) can be expressed consistently in endometrial stromal tumors.CD_(10) with h-caldesmon and SM-MHC can be used to make differential diagnosis between the endometrial stromal tumors and cellular leiomy0ma.ER and PR should be routinely estimated and be a prognostic predictor for endometrial stromal sarcoma.

OBJECTIVETo investigate the effects of hydroquinone (HQ) on expression of topoisomerase IIα (TOPOIIα) in human bone marrow mononuclear cells, and to explore the role and possible regulatory mechanism of TOPOIIα involved in toxicity of HQ to hematopoietic cells.

METHODSAfter human bone marrow mononuclear cells were exposed to 50 µmol/L HQ (used the cells which were exposed to sterile distilled water as control); the activity of TOPOII was measured by TOPOII assay kit; the expression levels of TOPOIIα mRNA and protein were detected by RT-PCR technique and Western blotting method respectively; the chromatin immunoprecipitation (ChIP) assay was carried out to study the possible mechanism of TOPOIIα expression changes.

RESULTS(1) The activity of TOPOII was inhibited obviously; the protein and mRNA expression of TOPOIIα were 0.017 ± 0.029 and 0.610 ± 0.128, significantly lower than that in the control with the significant difference (P < 0.01) after treated with HQ for 10 h; (2) The decreased content of TOPOIIα was associated with descended level of histone H4 acetylation than in the control, from 1.198 ± 0.056 to 0.324 ± 0.229, with the significant difference (P < 0.01), without accompanied descended level of histone H3 acetylation, from 1.253 ± 0.045 to 1.177 ± 0.025 (P > 0.05); (3) TOPOIIα mRNA expression decreased gradually after HQ processing, and the chemical modification (histone H4 acetylation) of TOPOIIα promoter happened prior to the mRNA expression.

CONCLUSIONHQ could repress the expression of TOPOIIα in human bone marrow mononuclear cells; the change of histone chemical modification plays an important role in the benzene's hematopoietic toxicity.

Acetylation ; Adult ; Antigens, Neoplasm ; metabolism ; Bone Marrow Cells ; drug effects ; metabolism ; Cells, Cultured ; DNA Topoisomerases, Type II ; metabolism ; DNA-Binding Proteins ; metabolism ; Female ; Histones ; metabolism ; Humans ; Hydroquinones ; toxicity ; Male ; Young Adult

behavior.

Objective To explore the current situation of elderly patients' obedience to doctor' s administering instruction and the factors that determined the outcome. Methods A total of 138 elderly patients in community were investigated including general condition, the knowledge of drug, the situation of obedience to instruction, the reasons of uneomplying instruction and some other social support. Results Forty two subjects (30.4%) knew the knowledge of drug totally. 57 subjacts(41.3%) compliant well. The ability of memorize reducing was the main factor influeing compliance. Some other factors such as age, medical insurance or not , the attitude and belief of the elderly patients. Conclusions We find that most of them can not comply with the doctor' s instruction and have deficient knowledge of drug . Nursing invention to the elderly patients' health improvement helps enhance their knowledge of preventing diseases. In order to improve the compliance of elderly patients, we can do that by the system of family support.