Objective In order to get reference data for diagnosis of clinical genetic disease through analyzing chromosome ab‐normality types and rates in 885 patients who ask for cytogenetics consultation in recent years .Methods 324 newborns who asked for cytogenetics consultation because of high risk factors in down′s screening during pregnancy or found abnormality in physical ex‐amination after birth and 561 patients with history of spontaneous abortion ,infertility or fetal death ,growth or mental retardation , sexual abnormality were examined for karyotype analysis .Results 116 cases of chromosome abnormal karyotypes were detected , count for 13 .11% ,among which ,40 cases(34 .48% ) are chromosomal aberration .Chromosome abnormality types and rates are dif‐ferent in patients with different type of diseases .Conclusion Abnormalities in chromosome numbers and sex chromosome abnor‐mality account for the main causes of growth and mental retardation ,abnormalities of sexual differentiation and development ;but for couples suffered from spontaneous abortion ,polymorphism and structure abnormalities takes up the highest portion .

BACKGROUNDThe clinical and histopathological characteristics of basal cell carcinoma (BCC) have been relatively well studied in Caucasian population. To characterize BCC in Chinese population, we analyzed the association of the histopathological subtypes with gender, age and anatomical location in this study.

METHODSThe clinical and histopathological data of 243 BCC cases diagnosed at three hospitals in Beijing from January 2000 to April 2009 were reviewed retrospectively. Gender, age, location and histopathological subtype were analyzed.

RESULTSAmong 243 patients enrolled, 118 were males and 125 were females. The male/female ratio was 0.94:1. The mean age was (65.16 ± 12.62) years old. The head and neck were the most common sites of BCC (77.4%). Of the BCCs, 53.9% were nodular, 18.9% superficial and 18.5% infiltrative-morphoeic. The nodular, infiltrative-morphoeic and micronodular subtypes were predominant located on the head and neck, whereas the trunk was the most common location for the superficial subtype (P < 0.05). The age at first presentation for females was lower than that for males (P < 0.05). The age at first presentation for the superficial BCCs was younger than the non-superficial subtypes (P < 0.05). Women with superficial BCC subtype visited hospital earlier than men (P < 0.05).

CONCLUSIONSConsistent with previous reports in Caucasian patient, our study find that different histopathological subtypes of BCC has distinct clinical features. It is speculated that the mechanisms underlining the pathogenesis of the superficial BCC may be different than those of non-superficial subtypes of BCC.

Adult ; Aged ; Aged, 80 and over ; Carcinoma, Basal Cell ; etiology ; pathology ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Skin Neoplasms ; etiology ; pathology

Objective:To investigate the role of extracellular signal-regulated kinase 1/2(ERK1/2)signal pathway in the pathogenesis of stress-induced gastric ulcer.Methods:Animal model of stress-induced gastric ulcer was established in rats with water-immersion restraint(WIR)stress.The mucosal activation of ERK1/2 was observed before and 5,15 and 30 min,and 1, 2 and 3.5 h after WIR stress.Some animals were also treated with an intravenous injection of PD98059(1 mg/kg),a specific ERK1/2 inhibitor,1 h prior to WIR stress.Expression of total ERK1/2 and caspase-3 were detected by Western blot analysis; ERK1/2 activity was measured by kinase activity assay using myelin basic protein as a specific substrate.DNA-binding activities of the transcription factors activator protein-1(AP-1)and nuclear factor-?B(NF-?B)were determined by electrophoretic mobility shift assays(EMSA).Mucosal TNF-?and IL-1?mRNA expression was analyzed by Northern blot analysis.The degrees of the gastric mucosal lesions were expressed as ulcer index(UI)and pathological evaluation.Apoptosis in the gastric mucosa was examined by an in situ TdT-mediated dUTP nick-end labeling(TUNEL)method.Results:Activated ERK1/2 was very weakly expressed in the gastric mucosa of normal rats.ERK1/2 was rapidly activated in the gastric mucosa of rats 15 min after WIR stress and the activity reached the maximal after 3.5 h.Pretreatment with PD98059 significantly inhibited ERK1/2 activation,decreased AP-1 and NF-?B activities and TNF-?and IL-1?mRNA expression,and obviously relieved gastric mucosal lesions,accompanied by caspase-3 activation and increased apoptosis.Conclusion:The present results indicate that ERK1/2 activation plays an important role in the development of stress-induced gastric ulcer.

This study is to determine the content of three alkaloids and establish the HPLC fingerprint of "Jianlian" Nelumbinis Plumula. The HPLC method of content determination was as follows: Thermo C18 (4. 6 mm x 250 mm, 5 μm) was conducted with acetonitrile-sodium dodecyl sulfonate solution-acetic acid (56: 43: 1) at a flow rate of 1.0 mL x min(-1). The monitoring wavelength was set at 282 nm and the column temperature was 35 degrees C. The method of HPLC fingerprint was as follows: Agilent ZORBAX SB-Aq C18 (4.6 mm x 250 mm, 5 μm) was conducted with gradient elution of methanol and water at a flow rate of 0.8 mL x min(-1), the monitoring wavelength was set at 282 nm and the column temperature was 35 degrees C. Similarities evaluation and hierarchical clustering analysis were applied to demonstrate the variability of 12 batches of "Jianlian" Nelumbinis Plumula samples. The results demonstrated that 11 batches showed good similarity on chemical constituents. The method could well display the chemical information of "Jianlian" Nelumbinis Plumula. It was simple, reliable and could be used for the chemical quality control of "Jianlian" Nelumbinis Plumula.
Alkaloids ; analysis ; Chromatography, High Pressure Liquid ; methods ; Drugs, Chinese Herbal ; analysis ; Nelumbo ; chemistry ; Quality Control ; Seeds ; chemistry

OBJECTIVE: To objectively evaluate the voice rehabilitation status in different period after treatment of Tis--T1 glottic carcinoma by CO2 laser with voice parameters. METHOD: A retrospective review of 41 cases with Tis--T1 glottic carcinoma treated by CO2 laser was performed, 23 cases were stage Tis (Tis group) and 18 cases with stage T1N0M0 (T1 group). The range of excision of the lesion by CO2 laser was according to the different stages of the tumor, and ensured theoperation negative margin was by intraoperative frozen pathological examination. We tested and compared the actual voice (coritaine F0, Jitter, Shimmer, NNE and MPT) of 30 cases of healthy middle-aged and old male(normal group) and all the patients at one day prior to operation, three months, six months and one year after operation respectively, which was to evaluate the voice rehabilitation status in different period after operation objectively. RESULT: Postoperative pathological examination revealed, 23 cases were squamous epithelium severe atypical hyperplasia, 16 cases were well differentiated squamous cell carcinoma, and 2 cases were moderately differentiated squamous cell carcinoma. Palatoglossal arch mucosal tear occurred in 3 patients. Respiratory difficulties were not seen in all cases, and normal oral feeding was obtained in all cases in postoperative three days. All patients were followed up for one year. There was statistical significance in F0, Jitter, Shimmer of both Tis group and T1 group after operation in different periods(P<0.05). But there was no statistical significance in NNE and MPT between six months and one years after operation in the two groups(P>0.05). CONCLUSION CO2 laser surgery is an effective treatment for early glottic carcinoma. Postoperative vocal function was improved in varying degrees, and voice quality gradually improved with the rehabilitation time. Partly objective parameters reflecting the vocal function gradually stabilized after half a year after operation.
Carcinoma, Squamous Cell ; complications ; therapy ; Glottis ; Humans ; Laryngeal Neoplasms ; complications ; therapy ; Laser Therapy ; Lasers, Gas ; Male ; Middle Aged ; Retrospective Studies ; Treatment Outcome ; Voice Quality

OBJECTIVE: To explore the geomorphological performance, the characteristics of volume, and the largest signal intension of blood oxygenation level dependent functional magnetic resonance imaging (BOLD-fMRI) in brain tumors located in or closed to the central area. METHODS: We recruited 13 normal volunteers and 31(13 benign tumors and 18 malignant tumors) patients with brain tumor located in or closed to the central area, to examine both side hand motor and tactile function by BOLD-fMRI and obtained the activation map and its superposition image with T1 imaging, the volume, and the largest signal intension of the functional area by SPM software which manipulated the raw data in the off-line work station. The volume and the largest signal intension data of the functional area were statistically analyzed by SPSS 13.0. RESULTS: The volume and the largest signal intension of the activation map in the normal functional area had hemisphere advantage. There was difference in the activated signal pixel number and the largest signal intension of the functional area between the benign brain tumors, malignant brain tumors, and the normal volunteers (P < 0.05). The shape, anatomic location, the volume, and the largest signal intension of the functional area were changed in the patients with brain tumors. CONCLUSION BOLD-fMRI is a valid method to assess the pre-surgical risk of patients with brain tumors, which can get the volume, the largest signal intension, the basic shape,and the anatomic location of the functional area.
Adolescent ; Adult ; Aged ; Brain Neoplasms ; blood ; physiopathology ; Female ; Hand ; physiopathology ; Humans ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; Motor Cortex ; pathology ; physiopathology ; Oxygen ; blood ; Somatosensory Cortex ; pathology ; physiopathology

The quality of Chinese medicinal materials relates greatly to the clinical curative effect and security. In order to ensure the quality and safety of Chinese medicinal materials, a systematic and operable traceability system needs to be established. It can realize the whole process of quality and safety management of Chinese medicinal materials "from production to consumption" through recording and inquiring information and recalling defective products, which is an important direction for the future development of traditional Chinese medicine. But it is still at the exploration and trial stage. In this paper, a framework of Chinese medicinal materials' quality and safety traceability system was established on the basis of the domestic and international experience about the construction of food and agricultural products traceability systems. The relationship between traceability system of Chinese medicinal materials' quality and GAP, GMP, GSP was analyzed, and the possible problems and the corresponding solutions were discussed.
China ; Drugs, Chinese Herbal ; chemistry ; standards ; Humans ; Medicine, Chinese Traditional ; standards ; Quality Control

UNLABELLEDTo analyse the live pathology characteristics in mild ALT-elevated (1 x ULN less than ALT less than 2 x ULN ) HBeAg-positive and HBeAg-negative chronic hepatitis B (CHB) patients, and to explore the influence of the age and HBV DNA level to liver pathology in different HBeAg status patients.

METHODSAll the patients who met the inclusion criteria form "eleventh five-year plan" National Science and Technology Major Project, the treatment program of integrative traditional and western medicine for CHB were enrolled in this study between October 2009 and March 2011 .B type ultrasound-guided liver biopsy was carried out in all patients and hepatitis B surface antigen (HBsAg) , HBeAg titer as well as HBV DNA level were detected at the same time. Hepatic tissue inflammation and fibrosis degree of patients according to HBeAg-positive and negative, age ( more than or equal to 40 years and less than 40 years), HBV DNA level (more than or equal to 10^5copy/ml and less than l0^5 copy/ml) were compared respectively. Chi-square test was used to compare the constitute percentage between the two samples. Multivariate logistic regression analysis was also performed to evaluate the correlation between different factors.

RESULTSThere were no significant difference in the grade of liver inflammation and the stage of liver fibrosis between 389 HBeAg positive and 126 HBeAg-negative patients (X2=4.326 and X2=3.464, respectively, P values were all more than 0.05). In the group of patients with age less than 40 years, the distribution of different liver inflammation and fibrosis had no significant difference between HBeAg-positive and negative patients (X2=2.543 and X2=5.024, respectively, P values were all more than 0.05). In the group of patient with age more than or equal to 40 years, the percentage of moderate and severe inflammation (G3, G4) HBeAg-positive patients(32.9%) owned is much higher than that of HBeAg-negative patients(16.4%), X2=8.777, P less than 0.05.But the stage of liver fibrosis in HBeAg-positive patients was not significantly different than that of HBeAg-negative ones (X2=0.977, P more than 0.5). In the group of patients with HBV DNA more than or equal to 10^5copy/ml, the percentage of mild inflammation in HBeAg-positive patients (17.5%) was much high than that of HBeAg-negative patients(7.3%), X2=8.851, P less than 0.05. The stage of liver fibrosis between HBeAg-positive and negative patients was no significant difference (X2=8.227, P more than 0.05).In the patients with HBV DNA less than 10^5 copy/ml, The percentage of HBeAg-negative patients(29.6%) with mild inflammation(G1) was much higher than HBeAg-positive patients (6.9%), X2=6.357, P less than 0.05. There was no significant difference in the stage of liver fibrosis between HBeAg-positive and negative patients (X2=4.061, P more than 0.05). The results of multivariate logistic regression analysis showed that age was the independent risk factor for different degree of liver inflammation and fibrosis seriousness.

CONCLUSIONThe status of HBeAg has no association with the grade of liver inflammation and the stage of liver fibrosis in CHB patients with mildly elevated ALT. The percentage of moderate and severe inflammation in the HBeAg-positive patients with age more than or equal to 40 years was significantly elevated. The grade of liver inflammation has significant difference between HBeAg-positive and negative patients with different HBV DNA levels as well.

Adolescent ; Adult ; Alanine Transaminase ; blood ; Female ; Hepatitis B e Antigens ; blood ; Hepatitis B, Chronic ; blood ; pathology ; Humans ; Liver ; pathology ; Male ; Middle Aged ; Young Adult

OBJECTIVETo study the cytologic features of pancreatobiliary tumors in endoscopic retrograde cholangiopancreatography (ERCP)-guided brushing preparations and to evaluate the usefulness of cytology in the diagnosis of pancreatobiliary malignancy.

METHODSA retrospective analysis of 212 cases of ERCP-guided brush cytology smears performed during the period from January, 2004 to December, 2006. The cytologic diagnosis was confirmed either by the histologic diagnosis or the strict clinical criteria.

RESULTSTwo of the cases studied were unsatisfactory for diagnosis, with no epithelial cells identified. One hundred and thirty-seven smears were diagnosed as "negative", 45 of which subsequently confirmed to be malignant (negative predictive value = 60.2%). Six of the 11 cases with "low-grade atypia" were proven to be malignant (positive predictive value = 54.5%), as compared to 19 of 23 cases of "high-grade atypia" (positive predictive value = 86.4%). All of the 41 cases with cytologic diagnosis of "malignancy" were confirmed to be malignant (positive predictive value = 100%). The cytologic features of malignancy in ERCP-guided brushing preparations included overlapping nuclei, anisonucleosis, coarse chromatin pattern, poor cellular cohesion, tumor diathesis, prominent nucleoli and atypical mitotic figures.

CONCLUSIONSThe accuracy of ERCP-guided brush cytology relies on good specimen preparation and application of morphologic criteria. Grading of cytologic atypia is of clinical significance. A "negative" or "low-grade atypia" cytologic diagnosis requires further diagnostic workup to rule out the possibility of underlying malignancy, while a "high-grade atypia" or "malignant" diagnosis is relatively specific in guiding subsequent management of suspected pancreatobiliary malignancy.

Adenocarcinoma ; diagnosis ; pathology ; surgery ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biliary Tract Neoplasms ; diagnosis ; pathology ; surgery ; Biopsy ; Cholangiopancreatography, Endoscopic Retrograde ; Cytological Techniques ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Pancreatic Neoplasms ; diagnosis ; pathology ; surgery ; Precancerous Conditions ; diagnosis ; pathology ; surgery ; Predictive Value of Tests ; Retrospective Studies ; Specimen Handling ; Young Adult

OBJECTIVETo diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype.

METHODSThe patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was then correlated with the genotype through a review of literature.

RESULTSThe neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter).

CONCLUSIONA rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.

Chromosomes, Human, Pair 13 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Cri-du-Chat Syndrome ; diagnosis ; genetics ; Cytogenetics ; Female ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; diagnosis ; genetics ; Male ; Trisomy ; diagnosis ; genetics