Adenoma ; diagnosis ; Child ; Diagnosis, Differential ; Humans ; Hypothyroidism ; pathology ; Magnetic Resonance Imaging ; Male ; Pituitary Gland ; pathology ; Pituitary Neoplasms ; diagnosis

Objective To investigate the prevalence and incidence of Keshan disease (KD) and the selenium concentration of food and hair in residents of Yongjin Village, Fuyu County, Heilongjiang Province, national monitoring site, in 2007. Methods According to the Standard of Keshan Disease Surveillance and the Standard of Diagnosis of Keshan Disease(GB 17021-1997), the residents living in the monitoring site were surveyed by clinical examination and electrocardiography. For individuals whose hearts showed abnormalities, a chest X-ray photograph was taken. The selenium concentrations of the residents' food (flour) and hair were assayed by flowing injection hydride generation atomic fluoremetric method(FI-HG-AFM). Results Nineteen KD patients were found from 282 residents in 2007 KD surveillance. The prevalence of KD, latent KD and chronic KD were 6.7%(19/282), 2.8%(8/282) and 3.9%(11/282), respectively. Five of the 8 latent KD cases were newly found. In addition, there were 5 the suspected KD cases, including 2 suspected chronic KD cases. No acute KD or sub-acute KD patients were found in Yongjin Village at this monitoring site this year. The average selenium concentration of children hair and residents food were (0.3197±0.0586)mg/kg and (0.0210±0.0062)mg/kg, respectively. Conclusions New cases of KD continued to emerge, indicating that etiological factors still exist. Therefore, the emphasis of monitoring KD in furore is founding the consummate report of infectious disease system and training the personnel to increase the reliability of monitoring.

The paper reports the systematic study on felodipine and its impurities in tablets, to improve its quality standards for the control of the related substances. HPLC-DAD, UPLC-MS, IR and NMR methods were used for the isolation of felodipine and its impurities in tablets, their identification and the zebrafish animal model was used for the analysis of the toxic impurities. In felodipine material and its tablets, three impurities are isolated and identified. They are impurity 1 [dimethyl 4-(2, 3-dichlorophenyl)-2, 6-dimethyl-1, 4-dihydropyridine-3, 5-dicarboxylate], impurity 2 [ethyl methyl 4-(2, 3-dichlorophenyl)-2, 6-dimethylpyridine-3, 5-dicarboxylate] and impurity 3 [diethyl 4-(2, 3-dichlorophenyl)-2, 6-dimethyl-1, 4-dihydropyridine-3, 5-dicarboxylate], separately. The result of zebrafish animal model analysis showed that the teratogenic effects of four compounds were: impurity 3 > or = felodipine > impurity 1 > impurity 2, lethal effects were as follows: impurity 2 = impurity 3 > felodipine > or = impurity 1. This study confirmed the toxicity of three impurities in felodipine. According to the results, the paper suggested the amendments to the standard of the medicine and provided the support to the control of impurities in the manufacturing process.
Abnormalities, Drug-Induced ; Animals ; Antihypertensive Agents ; administration & dosage ; chemistry ; toxicity ; Calcium Channel Blockers ; administration & dosage ; chemistry ; toxicity ; Chromatography, High Pressure Liquid ; methods ; Drug Contamination ; Felodipine ; administration & dosage ; chemistry ; toxicity ; Magnetic Resonance Spectroscopy ; Molecular Structure ; Pharmaceutical Preparations ; analysis ; chemistry ; Quality Control ; Spectrophotometry, Infrared ; Tablets ; Tandem Mass Spectrometry ; Zebrafish

This study was aimed to explore the relationship between Flt-3 expression, Flt-3/ITD mutation in acute leukemia (AL) cell line and pathogenesis of AL, especially AML. The Flt-3 expression and Flt-3/ITD mutation were detected by RT-PCR and sequencing method in 82 leukemia cell lines including 20 AML, 57 ALL and 5 CML cell lines. The results indicated that positive results of Flt-3 expression were obtained in 48 out of 77 AL cell line, the positive rate was 62%; 12 cell lines were positive in 20 AML cell lines, the positive rate was 60%; 33 cell lines was positive in 57 ALL cell lines, the positive rate was 58%; 3 cell lines were positive in 5 CML cell lines, the positive rate was 60%. There was abnormal gene product in 1 AMOL cell line out of 12 AML cell lines with Flt-3 positive expression (positive rate 8.3%). DNA sequencing of abnormal gene product showed two coding duplication sequence with 29 bp long. The positive rate of Flt-3 expression in undifferentiated cell line was prominently higher than that in mature B cell ALL (P < 0.05). It is concluded that the Flt-3 expression is different in various leukemia cells. Flt-3/ITD duplication was found in one AML cell line. The detection of Flt-3 gene and Flt-3/ITD mutation may contribute to the diagnosis of ALL, especially to AML.
Base Sequence ; Gene Duplication ; Gene Expression Regulation, Neoplastic ; Humans ; Leukemia, Myeloid, Acute ; genetics ; metabolism ; Molecular Sequence Data ; Mutation ; Tandem Repeat Sequences ; Tumor Cells, Cultured ; fms-Like Tyrosine Kinase 3 ; biosynthesis ; genetics

This study was aimed to explore the relationship of 6; 9 chromosome translocation with DEK-CAN fusion gene expression in patients with acute myeloid leukemia (AML) and its clinical significance. Chromosome specimens were prepared by routine method after short-term culture of bone marrow cells; karyotype analysis was performed by R banding technique; the expression of fusion gene DEK-CAN was analyzed by RT-nested-PCR in mononuclear cells of bone marrow or peripheral blood of 4 AML patients, for 3 patients received allo-BMT out of 4 patients the dynamic follow-up was performed. The results indicated that t (6; 9) (p23; q34) was confirmed by chromosome karyotype analysis in the four AML patients. The DEK-CAN fusion gene was found during in all four de novo, relapsed and CR patients (100%). And the expression of DEK-CAN fusion gene enhanced apparently in de novo and relapsed patients, and weakened in CR patient. DEK-CAN mRNA was found in the three patients during 1-24 months after allo-BMT. Clinical data showed 2 patients relapsed and died after CR for 1-24 months; the other two patients received allo-BMT got CR and still survive. It is concluded that DEK-CAN fusion gene is the molecular basis in pathogenesis of AML. The detection of DEK-CAN fusion gene is significant for diagnosis of AML, evaluation of curative effect, and predication of prognosis.
Acute Disease ; Adolescent ; Adult ; Child ; Chromosomes, Human, Pair 6 ; Chromosomes, Human, Pair 9 ; Female ; Humans ; Leukemia, Myeloid ; genetics ; Male ; Oncogene Proteins, Fusion ; biosynthesis ; genetics ; Translocation, Genetic ; genetics

Objective: To analyze the effect of acupuncture versus hormone replacement therapy (HRT) for premature ovarian insufficiency (POI). Methods: China National Knowledge Infrastructure (CNKI), Wanfang Academic Journal Full-text Database (Wanfang), Chongqing VIP Database (CQVIP), China Biology Medicine Disc (CBM), Web of Science, Cochrane Library, PubMed, and Excerpta Medica Database (EMBASE) were searched up to January 31st, 2019 to identify randomized controlled trials (RCTs) evaluating the effect of acupuncture for POI. The primary outcome was the level of basal serum follicle- stimulating hormone (FSH). Secondary outcomes included serum levels of luteinizing hormone (LH), estradiol (E2) and anti-Müllerian hormone (AMH). Two authors extracted data independently and assessed the risk of bias and the methodological quality using the Cochrane's tool. Meta-analysis was conducted by RevMan version 5.3. Results: Eight eligible RCTs with a total of 496 POI patients were included in the meta-analysis. The pooled results showed that there was a significant reduction in the basal serum FSH level (MD=-5.82, 95％CI:-9.76 to -1.87, I2=82％, P=0.004) and a remarkable elevation in the basal E2 level (SMD=0.93, 95％CI: 0.34 to 1.52, I2=88％, P=0.002) in the acupuncture group when compared with the control. Subgroup analysis showed that compared with HRT, a significant decrease in the FSH level was observed in both acupuncture alone (MD=-4.53, 95％CI:-8.96 to -0.10, I2=73％, P=0.04) and acupuncture plus HRT (MD=-9.60, 95％CI:-17.60 to -1.61, I2=50％, P=0.02), while a remarkable elevation of E2 was only found in acupuncture plus HRT (SMD=1.43, 95％CI: 1.03 to 1.82, I2=0％, P<0.00001). There was no significant difference in the LH level between acupuncture and HRT (MD=-3.16, 95％CI:-9.41 to 3.10, I2=0％, P=0.32), only one trial reported AMH, and no significant difference was found between acupuncture and HRT. Conclusion: The present study indicated that acupuncture had an advantage over HRT in reducing serum FSH level and increasing serum E2 level in women with POI. However, evidence supporting the finding is limited due to the small sample size, potential methodological flaws and significant heterogeneity. Hence, this conclusion still needs to be verified by high-quality RCTs.

OBJECTIVETo evaluate the potential usefulness of a multivariable model in predicting the response to immunosuppressive therapy (IST) in patients with aplastic anemia (AA), and its application to the clinical practice.

METHODSPB T cells subpopulation and BM T cells intracellular IFN-gamma and IL-4 were serially analyzed by flow cytometry (FCM) before and during treatment. HLA-DRB1 * 1501 phenotype was analyzed by PCR-SSP. The predictive potentials of different parameter combinations for clinical responsiveness were statistically assessed.

RESULTSIn all evaluated parameters, CD8+ cell intracellular IFN-gamma had the relatively best diagnostic value with sensitivity and specificity of 94.3% and 62.5%, and positive and negative predictive value of 84.6% and 83.3% respectively. Positive CD8+ cell intracellular IFN-gamma plus Tc1/Tc2 < 50 could increase the positive predictive value to 92.3%. A multivariable model consisting of absolute neutrophil count (ANC), BM T cell intracellular IFN-gamma, Tc1/Tc2 ratio and HLA-DRB * 1501 phenotype of the patients was finally established.

CONCLUSIONThe multivariable model is superior to each of the single parameters in terms of predictive power of IST therapeutic outcome, and its higher accuracy and the clinical application make it potentially useful in practice.

Adolescent ; Adult ; Aged ; Anemia, Aplastic ; drug therapy ; immunology ; Child ; Feasibility Studies ; Female ; HLA-DR Antigens ; immunology ; Humans ; Immunosuppression ; Immunosuppressive Agents ; therapeutic use ; Male ; Middle Aged ; Models, Statistical ; T-Lymphocyte Subsets ; immunology ; T-Lymphocytes ; immunology ; Treatment Outcome

Objective To study the distribution of sleep duration in mid－pregnancy women and examine its association with prehypertension ( PHT) ． Methods In the baseline survey of a prospective cohort study，943 women in mid－pregnancy were recruited in Guangzhou，China in 2017－2018． A standardized questionnaire was used to assess demographic characteristics，sleep duration and other lifestyles． We obtained maternal blood pressure values，weights，heights，and medical histories from medical records． Multivariate logistic regression was conducted to examine the association between sleep duration and PHT． Ｒesults The average daily sleep duration of women in mid －pregnancy was ( 10. 41 ± 1. 67 ) hours，and it was negatively related to age and educational level． Overall，98. 33% of pregnant women had a daily sleep duration ≥ 7 h and the distribution was related to passive smoking． The average night time sleep duration was ( 9. 48±1. 21 ) hours，and it was negatively related to age and educational level． The daytime sleep duration was ( 0. 93 ± 0. 69 ) hours，and it was positively associated with physical activity． The average bedtime was( 22 ∶ 42 ± 1．24) ，and it was positively associated with passive smoking． The prevalence of PHT was 9. 61%． We did not observe any significant association between sleep duration and PHT． Conclusions The mid－pregnancy women in Guangzhou had relatively long sleep duration， and it differed by maternal age，educational level，physical activity，and passive smoking． There was no significant association between sleep duration and PHT．

OBJECTIVEInactivating mutations of DAX-1 give rise to the X-linked form of adrenal hypoplasia congenita (AHC). Affected individuals are at risk of early postnatal Addisonian crisis, but the variable phenotypic expression of DAX-1 insufficiency renders this diagnosis challenging. This study aimed to understand the clinical features and identify DAX-1 gene mutation of the affected individuals and their relatives in a Chinese adrenal hypoplasia congenita kindred.

METHODSThe proband was diagnosed as adrenal insufficiency shortly after birth and his elder cousin was also diagnosed as having this disease at the age of about 8 years. Clinical data were obtained from 2 affected individuals when they were hospitalized into the department of pediatrics, Ruijin Hospital in 2006; 20 peripheral blood samples were obtained from the affected individuals and their relatives; exons in DAX-1 gene were amplified, and PCR product was purified and sequenced directly for analyzing mutation.

RESULTSA novel hemizygous mutation (T785C) was found in DAX-1 gene in both patients. Some clinical features such as the age of onset were different although these 2 patients carried the same mutation. There were 5 carriers of this mutation in the patients' maternal pedigree.

CONCLUSIONThe results suggested that adrenal hypoplasia congenita in this kindred was caused by a novel mutation (T785C) in DAX-1 gene, and the same mutation can give rise to the variable phenotype.

Adrenal Hyperplasia, Congenital ; genetics ; Asian Continental Ancestry Group ; genetics ; Child ; DAX-1 Orphan Nuclear Receptor ; genetics ; Genetic Diseases, X-Linked ; genetics ; Humans ; Male ; Mutation ; Pedigree ; Receptors, Retinoic Acid ; genetics ; Repressor Proteins ; genetics

OBJECTIVETo investigate the accuracy, consistency and related affecting factors in pathological results of breast lesions diagnosed by ultrasound-guided core needle biopsy (CNB) and conventional excision histopathology.

METHODSThe clinical data of 177 consecutive cases of breast lesions examined by ultrasound-guided CNB and subsequently excised were reviewed from Jan. 2003 to Nov. 2009. The agreement of pathological diagnosis between the CNB and subsequent excision pathology was analyzed.

RESULTSThere were 136 cancers in the final diagnosis after surgical excision among 386 breast lesions and 129 of them were diagnosed by CNB. The sensitivity (true positive) of CNB was 94.9%, false negative rate was 5.1%, specificity (true negative) was 100%, false positive rate 0, Youden's index was 0.949, and positive predictive value and negative predictive value were 100% and 85.4%, respectively. Condensation rate was 96.0% and Kappa value was 0.895.

CONCLUSIONUltrasound-guided CNB with histopathological assessment is accurate in diagnosis of breast lesions and has a great consistency with conventional excision pathology. It is a reliable method for the diagnosis of breast lesions to avoid an over-reliance on excision pathological examination.

Adenoma ; diagnosis ; pathology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biopsy, Needle ; methods ; Breast ; pathology ; Breast Neoplasms ; diagnosis ; pathology ; Carcinoma ; diagnosis ; pathology ; Diagnostic Errors ; Female ; Humans ; Hyperplasia ; Middle Aged ; Predictive Value of Tests ; Retrospective Studies ; Sensitivity and Specificity ; Ultrasonography, Mammary ; Young Adult