Anemia, Macrocytic ; Chromosome Deletion ; Chromosomes, Human, Pair 5 ; Cri-du-Chat Syndrome ; Humans ; Trisomy

Objective To study the mutation of STK11 gene in a Chinese family and a sporadic patient with Peutz-Jeghers syndrome (PJS),and to provide a basis for genetic diagnosis and counseling.Methods One sporadic patient and two patients from a family with PJS were collected,all of whom had typical mucosal pigmentation and gastrointestinal polyposis.Blood samples were obtained from the two patients and six unaffected relatives in this family,the sporadic patient,and 100 healthy controls.DNA was extracted,and PCR was performed to amplify nine exons and their adjacent introns in the STK11 gene followed by direct sequencing.The sequencing results were aligned to the published sequence of STK11 gene from Genbank.Results No mutation was found in the STK11 gene of any of the patients,unaffected relatives,or healthy controls.Conclusions Genetic heterogeneity exists in Peutz-Jeghers syndrome,hinting that there may be other causative genes or sites for this entity.

? AlM: To examine choroidal thickness and its relationship with axial length and spherical equivalent by spectral domain optical coherence tomography ( SD -OCT ) in patients with myopic choroidal neovascularization ( mCNV) .
?METHODS: We prospectively recruited 30 cases of mCNV in Beijing Anzhen Hospital from October 2010 to December 2014. SD-OCT was used to measure choroidal thickness subfoveally and at 1. 5mm superiorly, inferiorly, nasally and temporally ( SFCT, SCT1. 5mm , lCT1. 5mm , NCT1. 5mm , TCT1. 5mm ) . Paired t- test was conducted to assess the difference of spherical equivalent, axial length and choroidal thickness between mCNV group and controls. Logistic regression analysis was performed to evaluate the correlation between spherical equivalent, axial length, choroidal thickness and mCNV.
?RESULTS: The difference of spherical equivalent and axial length between mCNV group and controls was not significant (P>0. 05). lnferior was decreased in mCNV group compared with controls (140. 85±33. 46μm vs 168. 95±45. 36μm). The difference was significant (P=0. 008). Logistic regression demonstrated that decreased choroidal thickness ( lCT1. 5mm ) at inferior location was associated with mCNV (OR=2. 12;95%CI 1. 35~3. 28;P=0. 02).
?CONCLUSlON: The decrease of lCT1. 5MM may be one of the risk factors of mCNV.

Animals ; Atherosclerosis ; diet therapy ; physiopathology ; Humans ; Plaque, Atherosclerotic ; drug therapy

The study aims to investigate the embryo-fetus development toxicity of the novel PPAR-δ agonist HS060098 on SD rats. The pregnant rats that were randomly divided into the solvent control group (1% hydroxypropyl methyl cellulose water solution) and HS060098 suspension groups (10, 30 and 100 mg x kg(-1) xd(-1)) were orally administered with HS060098 suspension or vehicle during the gestation of 6 -15 days (GD6-15). At termination (GD20), female rats were sacrificed. The pregnant females were evaluated by corpora lutea count, implantation sites, existence and death of embryos. Fetal sex, weight, externals, variations and malformations of viscus and skeleton were observed. The results show that there were no significant abnormality in maternal general conditions and fetal appearance as well as viscera, but in the 100 mg x kg(-1) x d(-1) group, the maternal weight gain decreased greatly (P < 0.01) and the skeletal ossification delayed remarkably (P < 0.01); in the 30 mg x kg(-1) xd(-1) group, the fatal and litter number of incompletely ossified sternebrae II was higher than those of the control group (P < 0.05); the skeletal malformations occurred in all dose groups, which indicate that the novel PPAR-δ agonist HS060098 had maternal toxicity and adversely effected fetal skeletal development under the experimental conditions.
Animals ; Bone and Bones ; drug effects ; Embryonic Development ; drug effects ; Female ; Fetal Weight ; PPAR delta ; agonists ; Pregnancy ; Rats ; Toxicity Tests

Objective To analyze comprehensively the monitoring data of iodized salt in Zhangjiakou city during 2001 to 2009, and to provide basic information for working out control strategies of the iodine deficiency disorders. Methods According to the iodized salt monitoring requirements in National Iodine Deficiency Disorders Monitoring Program of Ministry of Health, a batch of nine salt samples were taken from each processing (wholesale)company of each county or district of the seventeen counties(districts) of Zhangjiakou once a month. Two townships (towns, street offices) were selected by their location of east, south, west and north in each county(district), and a township in central area each year. Four villages(neighborhoods) were selected in each township(town, street office),and eight household salt samples were collected in each village(neighborhood), and quantitatively determined by direct titration of iodine. Results Iodized salt processing(wholesale) : during 2001 to 2009, a total of 1728 batches was monitored, 1689 batch qualified, batch qualification rate 97.74%;15552 salt samples were tested, 15 357 qualified, iodized salt qualification rate 98.75 %. Household salt levels : 5297 villages (neighborhoods) of 1305 townships(towns, street offices) were monitored, 44 316 salt samples were collected, 43 274 qualified, iodized salt qualification rate 98.04%(43 274/44 141 ), iodized salt coverage rate 99.61%(44 141/44 316), qualified iodized salt consumption rate 97.65%(43 274/44 316). Rate of non-iodized salt was 0.40%(260/44 316), and salt median iodine was 30.02 mg/kg. Conclusions The iodized salt quality indicators are within the state-controlled range in Zhangjiakou city for nine years which remaines at relatively stable levels with a smaller range of annual fluctuations.Detection of non-iodized salt over the years has become the main factors affecting the effectiveness of the prevention and control measures.We should increase monitoring,supervision,and universal health education,and prevent the spread of non-iodized salt.

?AIM:To evaluate the incidence and clinical properties of dry eye after phacoemulsification in age-related cataract patients.?METHODS: Samples were collected from 145 age -related cataract patients (145 eyes).Dry eye was analyzed at 0, 7, 30, 90 and 180d after phacoemulsification by 1 ) Ocular Surface Disease Index questionnaire ( OSDI ) , 2 ) tear meniscus height ( TMH ) , 3 ) corneal fluorescein staining, 4) tear film break-up time (BUT), 5)SchirmerⅠtest( SⅠt) .?RESULTS:The symptoms and signs of dry eye, such as narrowing of TMH, shorting of BUT, decreasing of SⅠt, cornea staining by fluorescein, occurred as early as 7d post-phacoemulsification and were measured by OSDI questionnaire and 4 additional clinical tests.Over the six-month observation the severity of dry eye peaked at 30d and then gradually relieved.? CONCLUSION: The severity of dry eye after phacoemulsification peaked at 30d and gradually improved over time. Considering the characteristics of ocular surface for aged people ophthalmologists should pay more concern on evaluating the occurring of dry eye after phacoemulsification so as to improve the life quality of these people.

Objective The purpose of this paper is to screen inborn errors of meta bolism (IEM) by analyzing urinary components, so as to provide laboratory guide for their diagnosis and therapy.Methods Urine samples of patients suspected to have IEM were collec- ted.Urea was de compo sed with urease and n-heptadecanoic acid was added as internal standard.Protein was denatured with ethanol and precipitate was removed by centrifugation,dried b y evaporation, the residue was trimethylsilylly derivatized with BSTFA/TMCS,and then analyzed with GC-MS for quantification of organic acids, amino acids,suga rs, polyols, purines and pyrimidines, simultaneously. This procedure is denom inated as urease pretreatment-gas chromatography-mass spectrometry (UP-GC-MS) internationally.Results Urinary samples of 327 patients from 6 provinces, cities and autonomous regions were analyzed,and 16 kinds of 27 cases of IEM were screened out with a positiv e rate of 8.26%,among which there were 3 cases of hyperphenylalaninemia,3 cases of glyceroluria,3 cases of Leigh syndrome, 2 cases of propionic acidemia, 2 case s of methylmalonic aciduria, 2 cases of von Gierke′s disease, 2 cases of fructo se-1,6-diphosphatase deficiency, 2 cases of fructosuria, 1 cases of multiple car boxylase deficiency, 1 cases of glutaric acidemia typeⅠ, 1 cases of maple sy rup urine disease, 1 cases of hyperglycinemia, 1 cases of 3-aminoisobutyric acid uria,1 cases of adult-onset typeⅡcitrullinemia,1 cases of galactosemia and 1 ca ses of Fanconi′s syndrome.Several IEM patients above had died,but satisfactory therapeutic effects had been achieved in some diseases,in cluding multiple carboxylase deficiency,methylmalonic aciduria and galactosemia. Other patients′ condition remained to be followed up.Conclusion Analysis of urinary components by UP-GC-MS provides a valuable tool for screenin g of IEM and the results will help to provide effective diagnostic and therapeut ic guide for the patients. J Appl Clin Pediatr,2005,20(2):142-144

The essence of myelodysplastic syndrome (MDS) is a malignant clonal bone marrow myeloid neoplasm. Both basic researches and clinical studies should firmly grasp this essence of MDS and should not be interferenced by confounding factors. Comprehensive diagnosis can improve the accuracy of MDS diagnosis by multiple indicators that reflect the malignant nature, such as cell dysplasia, function abnormalities, cytogenetic changes and gene mutations. The therapy of MDS should also eradicate the MDS clone, change the disease progression, stimulating normal hematopoiesis, prolong the survival and improve the quality of life.

Objective:To study the effects of Tongxinluo,a traditional Chinese medicine,on the proliferation of peripheral blood-derived endothelial progenitor cells(EPCs)in vitro.Methods:The Tongxinluo solution was prepared through ultrasonication according to the pervious literature.The mononuclear cells(MNCs)were isolated from the peripheral blood with Ficoll by density gradient centrifugation.MNCs were suspended in Medium 199 containing 20% fetal blood serum(FBS)and vascular endothelial growth factor(VEGF).After cultured for 7 d,the attached cells were characterized by Di-LDL uptaking and FITC-lectin binding by laser confocal microscope,and further identified through detection of CD34 and CD133 expression by flow cytometry.Then the cultured EPCs were incubated with Tongxinluo at a series of concentrations(0,50,100,200,500, 750,1000?g/ml)for different durations(0,6,12,24 and 36 h).The cell morphology was observed and cell proliferation was determined by MTT assay.Results:Incubation with different concentrations of Tongxinluo increased the proliferative ability of EPCs.Tongxinluo at 500?g/ml had the most prominent effect on proliferation and the effect increased as time went by and reached peak at 36 h(growth rate 54.18%,P