A male patient,39 years old,presented with symptoms of cataract,dwarf,progeria,polydactyly and genu valgum,after the extracapusular cataract extraction and intraocular lens implantation on both eyes,the visual acuity was improved and his fundus examination was normal.As the syndrome is different from any eye syndrome we have ever known,so it maybe a new one.

Carcinoma, Hepatocellular ; genetics ; pathology ; Gene Expression Profiling ; Genomics ; Humans ; Liver Neoplasms ; genetics ; pathology ; Neoplasm Metastasis ; genetics ; Neoplasm Recurrence, Local ; genetics

OBJECTIVETo investigate the efficacy of letrozole for delaying bone maturation and increasing predicted adult height in boys with idiopathic central precocious puberty (ICPP) who have a bone age above 13 years and a short stature, and its adverse effects.

METHODSTwenty ICPP boys with a bone age above 13 years and a short stature were randomly divided into letrozole treatment (n=10) and control groups (n=10). The letrozole treatment group received oral letrozole [2.5 mg/(m(2)·d), Qd] for 6 months, while the control group received no treatment and was observed periodically. Bone age, growth rate, height standard deviation (SD) score, predicted adult height SD score, sexual maturity, and levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), dehydroepiandrosterone, testosterone (T), estradiol (E2), progesterone (P), and androstenedione (ASD) were measured. The letrozole-related adverse reactions were evaluated.

RESULTSAfter 6 months of treatment, both groups had a significantly increased bone age, but the letrozole group had a significantly slowed increase in bone age compared with the control group (13.82 ± 0.23 years vs 14.47 ± 0.30 years; P<0.05); compared with the control group, the letrozole group had a significantly increased predicted adult height SD score (-1.69 ± 0.26 vs -1.91 ± 0.35; P<0.05) and a significantly increased T level (4.9 ± 0.9 nmol/L vs 4.4 ± 0.8 nmol/L; P<0.05). There was no significant difference in testicular volume between the two groups. The treatment led to no significant changes in growth rate, Tanner stage, and levels of FSH, LH, P, E2 and ASD in the two groups, and there was no significant difference in these indices between the two groups. No adverse reactions were observed during letrozole treatment.

CONCLUSIONSLetrozole delays bone maturation and increases predicted adult height in ICPP boys with a bone age above 13 years and a short stature, and it causes no obvious adverse reactions.

Adolescent ; Aromatase Inhibitors ; therapeutic use ; Body Height ; drug effects ; Bone Development ; drug effects ; Gonadal Steroid Hormones ; blood ; Humans ; Male ; Nitriles ; adverse effects ; therapeutic use ; Puberty, Precocious ; blood ; drug therapy ; Testis ; drug effects ; pathology ; Triazoles ; adverse effects ; therapeutic use

Objective To investigate the effect of microcireulation blood flow and altering immunity by Chuanxiongqin,ulinastain and thymosin α1 on sepsis patients.Methods 90 patients were randomly divided into 3 groups(n=30),namely ICU group,Chuanxiongqin group,ulinastain and thymosin α1 group.HLA-DR/CD14+and IL-6,TNF-α,Lac,DD were measured.Results (1)DD showed no significant difference at every time point between ICU group and ulinastain+thymosin α1 group(P＞0.05).DD decreased in Chuanxiongqin group,and was significantly different from the others on the third day.(2)Lac unchanged significantly at every time point in ICU group(P＞0.05).Lac in Chuanxiongqin group and ulinastain+thymeain α1 group tended to decrease,and was statistically different from ICU group on the second day.(3)IL-6 and TNF-α tended to increase at every time point in ICU group(P＜0.05).In ulinastain+thymosin α1 group,IL-6 and TNF-α returned to the level before treatment,HLA-DR/(D14+increased significantly,and was higher than Chuanxiongqin group and ICU group statistically.Conclusion Chuanxiongqin could ameliorate circulation;ulinastsin and thymosin α1 could depress IL-6,TNF-α.So ulinastain and thymosin α1 might protect the immunity of sepsis patients.

Objective To explore the relationship between plasma ghrelin levels and glucose and lipid metabolisms of child and adolescent obesity.Methods 30 cases of obesity and 30 healthy normal weisht children and adolescents with same age and gender were selected.Plasma ghrelin level,serum insulin(INS),C-peptide(CPE),fasting blood glucose(FBG),total cholesterol(TC),triglyceride(TG),high-density lipoproteins(HDL),low-density lipoproteins(LDL)were measured.Results For the obesity group:Plasma ghrelin level significantly decreased [(15.49±1.98)vs(19.47 ±1.50)μg/L]compared with control(P＜0.05);BMI,waistline,FBG,INS were very significantly increased(28.19±3.83)vs(21.07±1.53)kg/m2;(88.60±6.13)vs(78.52 ±4.40)cm;(5.23±0.49)vs(4.59 ±0.63)mmol/L;(22.32 ±3.50)vs(16.98±2.50)μIU/ml,respectively compared with control(all P＜0.01);TC was significantly increased(5.87±0.88)vs(4.05±0.76)nmol/L compared with control(P＜0.05).For the plasma ghrelin level of obesity:The relationship between plasma ghrelin level and body weight,BMI,waistline,INS,TC was obviously negative(r=-0.385,-0.466,-0.336,-0.387,-0.373,respectively,all P＜0.01);The relationship between plasma ghrelin level and FBG was obviously negative(r=-0.324,P＜0.05);No relationship between plasma ghrelin level and age,body height,CPE,TG,HDLC,LDLC.Conclusion Plasma ghrelin level of children and adolescent obesity was obviously decreased,and was strongly related with disordem of glucose and lipid metabolisms.

Objective To explore the mutation of androgen receptor(AR)gene in a patient with 46,XY disorder of sex development(DSD)and to improve the diagnostic level and understanding of androgen insensitivity syndrome(AIS).Methods The clinical data of the child was analyzed,including physical examination,relevant laboratory examination,karyotype,pelvic B ultrasound,pelvic magnetic resonance imaging(MRI)and AR gene mutation.The peripheral blood of the child and his parents were drawn,and peripheral blood DNA was extracted.The polymerase chain reaction(PCR)-DNA sequencing method was used to amplify all exons of the AR gene in the child and his parents.Then,they were directly sequenced.Results A 7-years and 2-months old child who suffered from DSD,revealed physical examination that the child had normal female external genitalia,as the clitoris length was 2.0 cm×0.8 cm,with visible vaginal opening,and there were masses at bilateral inguinal region,with a size of 1.5 cm×0.8 cm.The results of human chorionic gonadotropin(HCG)stimulation test:testosterone was 0 nmol/L,androstenedione was 1.78 nmol/L,dihydrotestosterone was 0.07 nmol/L before HCG was injected;but testosterone was 4.69 nmol/L,androstenedione was 2.10 nmol/L,dihydrotestosterone was 0.33 nmol/L after HCG was injection.Sex chromosome analysis reported 46,XY karyotype.Pelvic B ultrasound revealed the absence of a uterus and ovaries and the presence of bilateral testes like gonad at each side of internal inguinal ring,with a size of 1.4 cm×1.0 cm×0.8 cm in the left,1.5 cm×0.7 cm×0.8 cm in the right;but the kidney,ureter,urinary bladder,adrenal gland and retroperitoneal for B ultrasound revealed no abnormality.Pelvic MRI(non-enhanced and enhanced)showed the presence of a blind ending vagina between rectum and urinary bladder(40 mm in depth)and the absence of uterus and ovarian tissue.DNA sequencing found one c.1685T>C heterozygous mutation(p.Ile562Thr)on exon 2 of AR gene in the child.But retrieving and summarzing documents of the domestic and foreign information databases and websites,the locus mutation of AR gene had never been reported.The structure prediction of the mutated protein(Polyohen2 and SIFT software)was significantly changed.By verifying the locus site of the parents of this child,it was found that his mother carried the same mutation,but his father was found to be normal.Conclusions A c.1685 T>C mutation(p.Ile562Thr)on exon 2 of AR gene is a novel mutation.Combined with the patient's clinical manifestations and computer prediction results,it may suggest that the novel mutation of AR gene can lead to the occurrence of AIS.

The rice gall dwarf disease, caused by the Rice gall dwarf virus (RGDV) is a serious disease occurring in rice in many regions of Guangdong province. As a basis to control the disease we have studied the genomic diversity of a variety of isolates from different locations. Genome segment 8(S8), encoding a main outer capsid protein (Pns8) of RGDV five isolates (BL, CH, DQ, GZ, XY) from Guangdong province was cloned and sequenced. The results revealed that all the S8 segments of the five isolates consisted of 1 578 nucleotides and had a single open reading frame (ORF) extending for 1 301 nucleotides from nucleotide 21 which encoded a polypeptide of 426 amino acids with an estimated molecular weight of 47.4 kDa. The S8 full-length sequence and the ORF sequence shared 97.3%-98.8% and 97.3%-99.1% nucleotide sequence identities within the five Chinese isolates, and shared 94.8%-95.6% and 95.0%-96.0% identities with those of the Thailand isolate respectively. The deduced amino acid sequence of Pns8 in GZ isolate was identical to that in the Thailand isolate, while the amino acid sequence variability of Pns8 within five Chinese isolates ranged from 0.5% to 2.1%. These results indicate that the S8 segment of RGDV is highly conserved in different isolates from different locations. The S8 cDNA from the XY isolate was cloned into the plasmid vector pET-28b(+) and a fused expression protein with an apparent molecular mass of 51kDa was specifically detected in an analysis of Escherichia coli Rossetta(DE3)Ⅱcells. To our knowledge, this is the first report on analysis of the RGDV segment 8 sequence and genetic comparison of different RGDV isolates and their protein expression.

OBJECTIVETo detect the relations between incidence rate of the epidemical encephalitis B and related factors, to provide a simple, valid and practical new method for forecasting encephalitis B eipdemics.

METHODSConnection number between the incidence rate of encephalitis B and the historical forecast factors was computed, before ranking the first, second and the third principal factor, to remove the factor with the smallest value in the light of the connection number before comparing the newest value of forecast factors with the same kind of history while the most nearly value becoming the forecasting factor value and to establish a forecasting equation according to the factor value and the consistent degree of the incidence rate of encephalitis B at that time. Finally, to put into the new factor value to get this forecast value under this equation. Assuming that there are n' (n' >or= 2) forecast factors, this time forecast value can then be directly obtained from the average of these estimate values.

RESULTSUsing above forecast method to forecast the incidence rate of encephalitis B at certain place and year, the predicting value is very much close to the actual incidence rate. Difference between the predicting value forecasted by the above-mentioned method and the actual incidence rate is only 0.0264/100 000 with an accurate rate of 97.94%.

CONCLUSIONThis principal factor analysis forecast method based on connection number in forecasting the incidence rate of encephalitis B prevention is acceptable.

China ; epidemiology ; Encephalitis Virus, Japanese ; Encephalitis, Viral ; epidemiology ; virology ; Factor Analysis, Statistical ; Forecasting ; Humans ; Incidence

Opioid receptor, is classified into three subtypes, mu, kappa and delta, with the mu-type receptor plays important roles in opioid analgesia and opioid addiction. The cDNA encoding mu-type receptor was obtained by RT-PCR from human brain RNA and was cloned into pcDNA3.1(+). The resultant recombinant plasmid pcDNAMORs were transfected into CHO cells by liposome. After PCR identification, the positive clone were treated with agonist and antiagonist were tested for their competence of signal transduction. CHO cells that contained mu-opioid receptor in the expression vector pcDNA3.1(+) acquired naloxone-blockable high-affinity specific binding of morphine and DAMGO. The concentration of cAMP in CHO cells transfected with pcDNAMOR was reduced after binding to morphine and DAMGO, and increased after binding naloxone. These results indicate that the mu-type receptor expreesd on the CHO cell has similar biological property as the nature receptor. The availability of these specific cell lines will facilitate the drug development and promote our understanding the mechanism underlying opiate addiction.
Animals ; Brain Chemistry ; CHO Cells ; Cricetinae ; Cricetulus ; DNA, Complementary ; biosynthesis ; genetics ; Humans ; Receptors, Opioid, mu ; biosynthesis ; genetics ; Transfection

Objective To explore the relationship between the size and location of the aneurysm after subarachnoid hemorrhage (aSAH) and its clinical classification. Methods A retrospective study was performed in patients with aSAH from January 1, 2008 to December 31, 2014. The relevant clinical data were collected including age, gender, aneurysm size, location, and Hunt-Hess (H-H) classification. The aneurysms were classified by size (A group d<5.00 mm, B group 5.00 mm≤d<10.00 mm, C group d≥10.00 mm), location and H-H classification according to the results of CT, digital subtrac?tion angiography (DSA), and magnetic resonance angiography (MRA). The relationship between size, position of aneurysm and H-H classification was observed and analyzed. Results There were 750 cases included in this study, with average age (56.14 ± 11.88), male 292 and female 458. The total number of aneurysms was 903, and the number of multiple aneurysms was 91 (12.13%). There was one case with multiple aneurysms that can be included in A, B and C groups. There were two cases with multiple aneurysms that can be included in A and B groups, two cases can be included in A and C groups, and three cases can be included in B and C groups. The number of aneurysms and the ratios of groups A, B and C were 20(3.9%), 12 (3.8%), 5 (7.5%), 70 (13.6%), 39 (12.2%), 10(14.9%), 2 (0.4%), 4 (1.3%), 2 (3.0%), 165 (32.0%), 94 (29.4%), 6 (9.0%), 130 (25.2%), 90 (28.1%), 6 (9.0%), 17 (3.3%), 11 (3.4%) and 2 (3.0%) for the location in the anterior cerebral artery, the middle cerebral artery, the posterior cerebral artery, the internal carotid artery, the anterior communicating artery, the posterior communicating artery, and the vertebral basilar artery, respectively. The number of aneurysms and the ratios of H-H classificationⅠ,Ⅱ,Ⅲ,ⅣandⅤin groups A, B and C were 48 (9.3%), 45 (14.1%), 12 (17.9%), 228 (44.2%), 150 (46.9%), 14 (20.9%), 68 (13.2%), 54 (16.9%), 30 (44.8%), 142 (27.5%), 43 (13.4%), 9 (13.4%), 30 (5.8%), 28 (8.8%) and 2 (3.0%). There was a negative correlation between the size of aneurysm and the H-H grade (rs=-0.075, P=0.024). Conclusion The anterior communicating artery and posterior communicating artery are high-risk areas for smaller aneurysms. The internal ca?rotid artery is high-risk areas for larger aneurysms. The size of aneurysm is negatively correlated with H-H classification.