Health Promotion ; Humans ; Occupational Health

There is no radical cure for essential thrombocythemia currently. Professor SUN Xue-mei has extensive clinical experience in treating it by combined therapy of Chinese and Western medicine. In this paper, authors tried to summarize her experience from guiding ideology and therapeutic points. Authors insisted on the direction of integrative medicine on the basis of syndrome differentiation, paying attention to psychological counseling,and applied individual treatment in clinics.
Acupuncture Therapy ; Female ; Humans ; Integrative Medicine ; Medicine, Chinese Traditional

Objective To investigate the effect of phosphatidylinesitol-3 kinase/serine threonine kinase (PI3K/Akt) signaling pathway on expression of beta-site amyloid precursor protein cleaving enzyme-1 (BACE1) in the hippocampus neurons of rat brain. Methods Forty SD rats were randomly divided into 4 groups: blank control group, sham-operated group, insulin group and wortmannin group. Insulin or the specific inhibitor of PI3K, wortmannin was injected into hippocampus neurons to activate or inhibit the signaling pathway in insulin group or wortmannin group, respectively. Immunoprecipitation and Western blot were used to analyze the proteins levels of PI3K/Akt and BACE1. Results In insulin treatment group,among the proteins downstream of signaling pathway, expression of Akt increased (0. 952±0.060 vs 0.835±0.029,t=4.9150, P=0.0001), phospho-Akt set473 increased (0.800±0.075 vs 0.657± 0.025,t=4.5598, P=0.0002), phospho-GSK-3α decreased (0.604±0.062 vs 0.726±0.041, t= 3.5871, P=0.0018 ), and the expression of mature BACE1 and β-CTF significantly decreased. In wortmannin group, the expression of Akt and phospho-Akt ser473 were inhibited; phospho-GSK-3α increased ; mature BACEI (1.004±0.096) and β-CTF (1.031±0.048) increased (t=11.5980, P= 0.0000 and t =4.2194, P =0.0004, respectively). Conclusions PI3K/Akt signaling pathway might effect the expression of BACE1, in which impaired signaling pathway may cause the amyloid precursor protein to be easily processed by BACE1, and thus involves the pathology of Alzheimer' s disease.

Objective To analyze changes of three periodical circulation systems,erythrocyte sedimentation rate and bone marrow cell morphology in children with malaria.Methods The routine tests of hematology by Sysmex KX-21 Counter, erythrocyte sedimentation rate by Westergren method and bone marrow cell morphology were analyzed. Results In 22 cases of malaria the ratio of Hb level below 110 g/L,WBC below 4?10~9/L and PLT below 100?10~9/L was 68.2%, 41.0%, and 77.3%,respectively. The ratio of children with all three parameters (Hb, WBC and PLT) abnormal was 36.4%, with two parameters abnormal was 63.6%. Ninty-five point five percent of malaria children′s erythrocyte sedimentation rate was abnormal. Fifty-nine point one percent of malaria children had hyperplasia anemia bone marrow morphology, 77.3% secondary thrombocytopenia and 54.5% with both of two bone marrow morphology.Conclusions Three periodical circulation systems of malaria children alter notably, especially in PLT and Hb. The majority has erythrocyte sedimentation rate abnormal, and bone marrow cell morphology shows hyperplasia anemia and thrombocytopenia.

OBJECTIVETo analyze the clinical and PMM2 gene mutation features of congenital disturbance of glycosylation caused by PMM2 gene mutation (PMM2-CDG, previously known as CDG 1a).

METHODThe clinical data of two Chinese patients who were clinically diagnosed as PMM2-CDG at neurology department of Beijing Children's Hospital in 2012 were retrospectively collected. The gene mutations were identified by Sanger sequencing.

RESULTBoth patients were female, aged 1 year and 1 month and 8 months respectively. The main clinical features of the two cases were developmental delay after birth, chronic diarrhea and metabolic acidosis, associated with elevated serum transaminases, and decreased antithrombin III activity. Physical examination showed esotropia, inverted nipples, and abnormal subcutaneous fat pads. The cranial MRI showed cerebellar atrophy. Both cases were treated with occupational therapy, physical therapy and speech therapy. The development was gradually improved but also delayed as compared with normal peers during follow-up for more than 3 years. Genetic analysis showed that patient 1 was compound heterozygous for c. 422G>A(p.Arg141His), which was reported for known pathogenic mutation, and c. 669C>A(p.Asp223Glu), was a new mutation. The patient 2 showed compound heterozygous mutation for c. 634A>G (p.Met212Val)and c. 713G>C(p.Arg238Pro), which were both new mutations.

CONCLUSIONPMM2-CDG is a rare metabolic disease, and the diagnosis should be considered in a child with developmental delay, elevated serum transaminases, decreased antithrombin III activity, inverted nipples, abnormal subcutaneous fat pads, esotropia, and cerebellar atrophy on MRI. It can be confirmed by PMM2 gene analysis.

Asian Continental Ancestry Group ; Congenital Disorders of Glycosylation ; genetics ; DNA Mutational Analysis ; Developmental Disabilities ; Female ; Genetic Testing ; Glycosylation ; Heterozygote ; Humans ; Infant ; Magnetic Resonance Imaging ; Mutation ; Phosphotransferases (Phosphomutases) ; genetics ; Retrospective Studies

OBJECTIVETo investigate the clinical and genetic features of a Chinese girl with Schwartz-Jampel syndrome (SJS).

METHODTo analyze the clinical and genetic data of a girl with Schwartz-Jampel syndrome who was sent to neurology outpatient department of Beijing Children's Hospital in Auguest of 2010. Reports on Schwartz-Jampel syndrome published until July of 2015 were searched and the clinical and genetic characteristics of reported cases were summarized.

RESULTAt 8 months after birth, the girl showed myotonia; at 1 year old when she was walking alone she had myotonia of lower limbs, both feet evaginated, walked slowly and was prone to fall. At 2 years of age, she could not climb up stairs, at 3 years she could not jump continuously. At 3 years and 7 months of age when the girl was taken to neurology outpatient department, on examination, she had a dull facial expression, rigid lips and could not fully open her mouth, a micromandible, low-set and prominent ears, systemic muscle rigidity, there were muscular nodes formation on the limbs and gait stiffness. She had high level of creatine kinase and atlanto-axial joint subluxation on cervical CT reconstruction. She also had spontaneous myotonia-like discharges on needle electromyography (NEMG). X-ray of limbs showed metaphyseal dysplasia. The patient was treated with neurologic rehabilitation and carbamazepine. The myotonia at the last follow-up at her 8 years of age was the same as at the onset. On her HSPG2 gene, two novel heterozygous mutations c.10776delT on exon 78 and c.5702-5G>A on intron 45 were found. c.10776delT resulted in the amino acid change on p.Ala3592fsX6 and c.5702-5G>A maybe changed protein splicing. No reports were found among Chinese journals, while 7 reports were found in English literature. The total 34 mutations were known in reviewed reports, which included eleven deletion or insertion, twelve splice site, eight missense, and three nonsense mutations. Four patients had a single mutation. No definite genotype-phenotype correlation was identified.

CONCLUSIONSchwartz-Jampel syndrome is a rare autosomal-recessive hereditary disease appears to be slowly progressive, in which distinctive clinical features were induced by HSPG2 gene mutation. We reported the c.10776delT on exon 78 and c.5702-5G>A on intron 45 which were not reported previously. This is the first report of Schwartz-Jampel syndrome of which genetic mutations was identified in a Chinese child.

Asian Continental Ancestry Group ; Carbamazepine ; therapeutic use ; Child ; Child, Preschool ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Introns ; Mutation ; Osteochondrodysplasias ; diagnosis ; genetics

OBJECTIVETo study the effect of alternative splicing form -MAD2beta of mitotic arrest deficient protein 2 (MAD2) on the formation of multidrug resistance in human gastric adenocarcinoma cell SGC7901.

METHODSRNA was extracted from a multidrug resistance cell line SGC7901/ADR. The full-length MAD2beta cDNA was obtained by RT-PCR and cloned into the pUCm-T vector, and then recombined into the eukaryotic expression vector pcDNA3.1 in forward direction. Subsequently, pcDNA3.1/MAD2beta vectors were then transfected into SGC7901 cells by lipofectamine. Sensitivity to drug was detected by MTT assay. Cell cycle alteration and intracellular fluorescence intensity were determined by FACS.

RESULTSA fragment of 0.53 Kb was obtained and confirmed by DNA sequencing which was a new alternative splicing form of MAD2 named as MAD2beta. pcDNA3.1/MAD2beta transfected SGC7901 cells (SGC7901/MAD2beta) were more resistant to ADR, VCR and MMC than the control cells (SGC7901/pcDNA3.1), and also ADR fluorescence intensity of SGC7901/MAD2beta cells was lower (P < 0.05) than that of SGC7901/pcDNA3.1 cells.

CONCLUSIONMAD2beta could increase the multidrug resistance of SGC7901 cell line.

Adenocarcinoma ; metabolism ; pathology ; Alternative Splicing ; Antibiotics, Antineoplastic ; pharmacology ; Antineoplastic Agents, Phytogenic ; pharmacology ; Calcium-Binding Proteins ; biosynthesis ; genetics ; Cell Cycle Proteins ; Cell Line, Tumor ; DNA-Binding Proteins ; biosynthesis ; genetics ; Doxorubicin ; pharmacology ; Drug Resistance, Multiple ; Drug Resistance, Neoplasm ; genetics ; Humans ; Mad2 Proteins ; Mitomycin ; pharmacology ; Repressor Proteins ; Smad2 Protein ; Stomach Neoplasms ; metabolism ; pathology ; Trans-Activators ; biosynthesis ; genetics ; Transfection ; Vincristine ; pharmacology

OBJECTIVETo investigate the effects of X-ray exposure on the release of soluble tumor necrosis factor receptor-p75 (sTNFR-p75) in hepatocellular carcinoma HepG2 cells in vitro.

METHODSEnzyme-linked immunosorbent assay (ELISA) was used to examine the levels of sTNFR-p75 in the supernatants of HepG2 cells before and after X-ray exposure. The cell apoptosis was analyzed by flow cytometry and transmission electron microscope(TEM), and the morphological changes of the cells were examined under optical microscope and transmission electron microscope(TEM).

RESULTSX-ray exposure of the cells resulted in a strong increase of cell apoptosis (P<0.05) and sTNFR-p75 production in the cells as compared with the those before the exposure (P<0.01). Optical microscopy revealed apoptotic changes of HepG2 cell after the exposure, shown as cell shrinkage, spherical cell morphology, cytoplasmic and nuclear condensation. Apoptotic bodies were detected by TEM.

CONCLUSIONX-ray exposure induces HepG2 cells apoptosis by inhibiting the release of sTNFR-p75 into the supernatant.

Animals ; Apoptosis ; radiation effects ; Carcinoma, Hepatocellular ; pathology ; secretion ; Cell Line, Tumor ; Culture Media, Conditioned ; chemistry ; metabolism ; radiation effects ; Humans ; Liver Neoplasms ; pathology ; secretion ; Microscopy ; Receptors, Tumor Necrosis Factor, Type II ; biosynthesis ; chemistry ; secretion ; Solubility ; X-Rays

Objective To prospectively evaluate the efficacy and toxicity of hypofractionated intensity-modulated radiotherapy (IMRT) for prostate cancer.MethodsFifty-two consecutive patients with localized prostate cancer were enrolled in this study between Feb.2009 and Mar.2011.All patients received hypofractionated IMRT (2.7 Gy/fx,25 fractions,total 67.5 Gy) to the prostate and seminal vesicles.32 high risk patients also received prophylactic irradiation to the pelvic lymph nodes concurrently (2 Gy/fx,25 fractions).Imaging-guided radiotherapy was employed in 35 patients.Androgen deprivation therapy was adopted in 48 of 52 patients.ResultsAfter a median follow-up of 13 months,the mean prostate specific antigen (PSA) was reduced from (40.3 ± 36.6) ng/ml before treatment to (0.5 ± 1.7)ng/ml at the last follow-up.By the time of last follow-up,2 patients (4％) failed.One had PSA failure and the other had both PSA failure and pelvic lymph node relapse.25％ of the patients experienced grade 2 acute gastrointestinal (GI) toxicity and 4％ experienced grade 3 GI toxicity.Acute grade 2 and grade 3genitourinary ( GU ) toxicity occurred in 15％ and 2％,respectively.The incidence of late grade 2 and grade 3 GI toxicity was 17％ and 0％,respectively.Late grade 2 and 3 GU toxicity was 8％ and 2％.The potency was unable to evaluate because most of the patients received androgen deprivation therapy.Conclusions The short-term PSA-free survival after 2.7 Gy/fx,25 fractions' hypofractionated IMRT for localized prostate cancer is favorable,and the acute and late GI and GU toxicity are acceptable.A longer time follow-up is warranted to ascertain the long term efficacy and safety of this regimen.

OBJECTIVETo determine the relationship between estimated glomerular filtration rate (eGFR) and proteinuria with cardiovascular events in subjects aged 80 years or older.

METHODSData for this retrospective prognostic study were drawn from the patient database for routine checkup in Beijing hospital between January 2001 to December 2001. Baseline eGFR and proteinuria were evaluated in 340 subjects [mean age: (85.6 ± 4.0) years]. eGFR was calculated using the modified abbreviated MDRD equations based on the Chinese chronic kidney disease patients. The subjects were divided into normal renal function group and reduced renal function group (eGFR <60 ml·min(-1)·1.73 m(-2)). The subjects were divided into subjects without proteinuria and subjects with proteinuria group. Cardiovascular events included cardiovascular death, nonfatal myocardial infarction, nonfatal stroke.

RESULTSThe proportion of reduced renal function was 36.8% (125/340). The proportion of proteinuria was 10.3% (35/340). The proportion of reduced renal function or proteinuria was 41.8% (142/340). Follow-up time was 79 months (40-114 months). Cardiovascular events rate was significantly higher in reduced renal function group than in normal renal function group [37.6% (47/125) vs. 26.2% (55/210), P < 0.05 ] and in proteinuria group than in without proteinuria group [50.0% (17/34) vs. 28.2% (85/301), P < 0.01 ]. Cox multivariate analysis revealed that both eGFR (HR = 0.978, 95%CI:0.961-0.994, P < 0.05 ) and proteinuria (HR = 2.049, 95%CI:1.132-3.709, P < 0.05) were independent risk factors for cardiovascular events after adjusting for age, gender, triglyceride, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, uric acid, hypertension, coronary heart disease, diabetes mellitus.

CONCLUSIONSReduced eGFR and presence of proteinuria are independent risk factors for cardiovascular event in subjects aged 80 years or older. eGFR and proteinuria can thus be used for cardiovascular event risk stratification in subjects aged 80 years or older.

Aged, 80 and over ; Cardiovascular Diseases ; complications ; physiopathology ; Female ; Glomerular Filtration Rate ; Humans ; Male ; Multivariate Analysis ; Proteinuria ; Retrospective Studies ; Risk Factors