Objective To identify mutations site and clinical characteristics of a familial hypercholesterolemia(FH) proband diagnosed clinically through DNA sequencing and family analysis in the proband and his family members of 3 generations.Methods Blood samples and clinical data of the kindred of total 29 from 3 generations members were collected.Proband had a physical examination electrocar-diogrom and vascular ultrasound.The proband and his family members took routine clinical exams,and genomic DNA was isolated.The promoter region and the 18 exons of low density liporotein receptor(LDLR) gene were screened by Touch down polymerase chain reaction -single strand conformation polymorphism(PCR-SSCP) and DNA sequencing.The result of sequencing were matched gene sequence published in the BLAST database.Results 1.Increased intima-media thickness and plaque were detected in the common carotid artery,right subclavian artery of the proband.Aortic valve regurgitation was found by echocardiography.2.No mutation R3500Q of ApoB100 was observed.3.Two heterozygous mutations in exon 10 and 13 of LDLR gene (W462X and A606T) were identified.The proband and 5 members of paternal relatives showed W462X heterozygosis mutation in exon 10 of LDLR gene which introduced the change from tryptophone to a new stop codon.The proband's mother and grandmother harboured A606T heterozygous mutation in exon 13 of LDLR gene due to a single base pair substitution of G for A in the codon for residue 1 879.Conclusions Disease causing mutations of proband are W462X and A606T compound heterozygosis mutation in exon 10 and 13 of LDLR gene inherited from mother and father.Proband shows homozyous phenotype though the genotype analysis indicates heterozygous mutations.

Objective To analyze the clinical features and common etiology of lung nodules in children. Methods The etiology, diagnosis, radiological features from 98 hospitalized children of lung nodules were analyzed. Results Of them, 58 were male and 40 were female aged from 0.2 years old to 14.8 years old. Pulmonary infection were found in 41 cases (41.8%) including tuberculosis in 15 cases (15.3%), pulmonary fungal infection in 13 cases (13.3%), pneumonia in 11 cases (11.2%), lung trematode in 2 cases (2.0%). Pulmonary metastases were found in 28 cases (28.6%), multiple pulmonary arteriovenous fistula in 1 case (1.0%), and pulmonary contusion in 1 case (1.0%) and unknown etiology in 27 cases (27.6%). Conclusions The etiology of lung nodules is complicated, in which infectious diseases are the most commonly seen, followed by pulmonary metastases. Biopsy is the golden standard of diagnosis.

Objective To explore the molecular basis of familial hypercholesteraemia(FH)by analyzing the phenotype and genotype relationship through identify the low density liporotein receptor(LDL-r)gene mutation in a FH kindred.Methods A male patient of 15 years old was selected to examine the electrocardiogram,lipid.Color Doppler was used to examine heart and great vessels.The promoter region and the 18 exons of the LDL-r gene were screened by touch-down polymerase chain reaction(PCR)and DNA sequencing.Results The caro-tid intima-media thickness(IMT)was increased to 0.23 cm,while coronary flow velocity reserve(CFVR)was decreased to 1.57,and mode-rate mitral regurgitation was found in the proband.The genetic alteration G→A change at 1 448 of exon 10 causing premature stop codon(W462X).The same heterozygous nonsense mutation was also found in his father.The mutation had been reported in other Chinese patients.In vitro experiments showed that W462X mutation leads to low LDL binding and internalization ability.Conclusions The homozygous mutation(W462X)in exon 10 of the LDL-r gene were identified in the clinically heterozygous FH proband.The W462X mutation is the underl-ying cause of hypercholesterolaemia and clinical AS manifestations.W462X is recurrent mutation among Chinese FH patients.It might be a hot spot mutation in LDL-r in Chinese FH.J Appl Clin Pediatr,2009,24(1):18-20

OBJECTIVESTo evaluate the effects of varicocele (VC) on IL-1 and NO levels in testes of rats with VC.

METHODSMale adult Wistar rats were divided into two groups randomly, VC group (n = 30) and pseudo-operation group (n = 20), and the levels of IL-1 and NO in the testes were determined and compared.

RESULTSThe levels of IL-1 and No of left tests in VC group were higher than those in pseudo-operation group, respectively(P < 0.01). While the levels of IL-1 and NO of right testes between two groups were not significantly different (P > 0.05). More over, the level of IL-1 correlated significantly with that of NO(r = 0.572, P < 0.01).

CONCLUSIONSThe results revealed that the changes of IL-1 and NO levels in the testes of rats with VC might be the reason which caused testes damage, disturbance of spermatogenesis and even infertility.

Animals ; Disease Models, Animal ; Interleukin-1 ; metabolism ; Male ; Nitric Oxide ; metabolism ; Rats ; Rats, Wistar ; Testis ; metabolism ; ultrastructure ; Varicocele ; metabolism

Objective To study the effect of rosiglitazone on plaque stability in ApoE-knockout mice. Methods Thirty-two 6-week-old ApoE knockout mice were used as atherosclerosis models in two groups: rosiglitazonegroup (n=18) and control group (n=14). Male and female mice were half separated into two groups. All mice were fed normal chow diet. Rosiglitazone group received rosiglitazone 17 mg/kg of body weight/day. The animals were sacrificed and aortae were prepared for analysis after fourteen weeks. Aortic root were cutted and prepared for paraffin section. The positive percentage of macrophage cells, smooth muscle cells, tumor necrosis factor-? and matrix metalloproteinase-9 in aortic lesions were measured by immunohistochemistry. The changes of grey gradient of collagen in lesion of both groups were measured by Masson stain. Results The positive percentage of smooth muscle cells [(38.5?7.2)%vs(18.6?6.7)%,P

PURPOSE: The purpose of this study was to develop and preliminarily evaluate the reliability and validity of the Symptom-Management Self-Efficacy ScaleeBreast Cancer (SMSES-BC) related to chemotherapy. METHODS: The study included three stages. This paper presents the results of stage 2 and stage 3. In total, 34 items in the SMSES-BC were found during stage 1 from qualitative findings, a literature review, and expert suggestions; the 34 items were used for the psychometric properties test. Test-retest reliability and Cronbach alpha were assessed in the first sample, which included 45 participants for the pilot test (stage 2). The second sample, which included 152 patients, was used to assess the construct validity and concurrent validity (stage 3). RESULTS: The pilot test results revealed a test-retest reliability of .73 (p < .001) and Cronbach alpha coefficient of .96 for the total scale. Three factors (managing chemotherapy-related symptoms, acquiring problem solving, and managing emotional and interpersonal disturbances) were identified from exploratory factor analysis. Correlation coefficient r was .40 (p < .001), which supported the association between SMSES-BC and the General Self-Efficacy Scale for concurrent validity. CONCLUSIONS: The study results demonstrate acceptable reliability and validity for the SMSES-BC that was developed for measuring symptom-management self-efficacy related to chemotherapy for patients with breast cancer. This study suggests further research to validate the construct of the SMSES-BC.
Adult ; Aged ; Antineoplastic Agents/*therapeutic use ; Breast Neoplasms/*drug therapy/*psychology ; Drug Therapy/*psychology ; Factor Analysis, Statistical ; Female ; Humans ; Middle Aged ; Patients/*psychology ; Pilot Projects ; Psychometrics ; Reproducibility of Results ; Self Care/*psychology ; Self Efficacy ; Surveys and Questionnaires ; Taiwan

OBJECTIVETo investigate the expression of the anti-oncogene ARHI in the endometriotic tissue and explore its clinical significance.

METHODSA semiquantitative analysis of the expression of ARHI mRNA and protein in the ectopic and eutopic endometrium of women with endometriosis was conducted using RT-PCR and Western blotting in comparison with that in the endometrium of women without endometriosis. Immunohistochemistry and in situ hybridization were performed for semi qualitative analysis and localization of ARHI expression.

RESULTSThe expression levels of ARHI mRNA and protein differed significantly between the groups. ARHI was expressed at significantly higher levels in ectopic endometrium than in eutopic and normal endometrium (P<0.005), but showed no significant difference between the latter two tissues (Pgt;0.05). The positivity rate ARHI DNA was 97.3% in the endometrium of women without endometriosis, 100% in the ectopic endometrium and 93.8% in the eutopic endometrium of women with endometriosis. immunohistochemistry showed an ARHI positivity of 93.2% in the endometrium of women without endometriosis, 100% in the ectopic endometrium and 92.3% in the eutopic endometrium of women with endometriosis. The expression patterns of ARHI DNA and protein were consistent. Immunohistochemistry in 5 cases of malignant endometriosis showed negative ARHI expression in 4 cases and weak positivity in 1 case.

CONCLUSIONARHI expressions are present in the endometrium and up-regulated in ectopic endometrium, whereas in the ectopic endometrium of patients with malignant endometriosis its expression is often negative, suggesting a role of ARHI in infertility and tumorigenesis of endometriosis.

Adult ; Endometriosis ; metabolism ; pathology ; Endometrium ; metabolism ; pathology ; Female ; Genes, Tumor Suppressor ; Humans ; RNA, Messenger ; genetics ; rho GTP-Binding Proteins ; metabolism

To observe a PPAR-alpha agonist effect of N-oleoylethanolamine (OEA) on CB2 (cannabinoid receptor 2), an anti-inflammatory receptor in vascular endothelial cell, healthy HUVECs and TNF-alpha induced HUVECs were used to establish a human vascular endothelial cell inflammatory model. Different doses of OEA (10, 50 and 100 micromol x L(-1)) had been given to HUVECs, cultured at 37 degrees C for 7 h and then collected the total protein and total mRNA. CB2 protein expression was detected by Western blotting and CB2 mRNA expression was assayed by real-time PCR. As the results shown, OEA (10 and 50 micromol x L(-1)) could induce the CB2 protein and mRNA expression, but not 100 micromol x L(-1). To detect if anti-inflammation effect of OEA is partly through CB2, CB2 inhibitor AM630 was used to inhibit HUVEC CB2 expression, then the VCAM-1 expression induced by TNF-alpha was detected, or THP-1 adhere to TNF-alpha induced HUVECs was examined. OEA (50 micromol x L(-1)) could inhibit TNF-alpha induced VCAM-1 expression and THP-1 adhere to HUVECs, these effects could be partly inhibited by a CB2 inhibitor AM630. The anti-inflammation effect of OEA is induced by PPAR-alpha and CB2, suggesting that CB2 signaling could be a target for anti-atherosclerosis, OEA have wide effect in anti-inflammation, it may have better therapeutic potential in anti-inflammation in HUVECs, thus achieving anti-atherosclerosis effect.
Anti-Inflammatory Agents ; pharmacology ; Atherosclerosis ; pathology ; Cell Adhesion ; drug effects ; Cells, Cultured ; Endocannabinoids ; pharmacology ; Endothelial Cells ; cytology ; metabolism ; Ethanolamines ; pharmacology ; Humans ; Indoles ; pharmacology ; Monocytes ; drug effects ; Oleic Acids ; pharmacology ; PPAR alpha ; antagonists & inhibitors ; RNA, Messenger ; metabolism ; Receptor, Cannabinoid, CB2 ; antagonists & inhibitors ; genetics ; metabolism ; Tumor Necrosis Factor-alpha ; pharmacology ; Vascular Cell Adhesion Molecule-1 ; metabolism

Adenosine Triphosphate ; Atropine ; Child, Preschool ; Echocardiography, Stress ; methods ; Female ; Humans ; Infant ; Male ; Mucocutaneous Lymph Node Syndrome ; complications ; diagnostic imaging ; Myocardial Ischemia ; diagnostic imaging ; etiology

OBJECTIVETo study the water-soluble chemical constituents in root of Achyranthes bidentata.

METHODThe chemical constituents were isolated by silica gel column chromatography and the structures were elucidated by the NMR spectra and physico-chemical properties.

RESULTSeven compounds were obtained and identified as n-butyl-beta-D-fructopyranoside (I), oleanoic acid (II), 3-O-[beta-D-glucopyranosyl], oleanoic acid 28-O-beta-D-glucopyranoside (III), allantoin (IV), 20-hydroxy ecdysone (V), glutamic acid (VI), 3-O-[beta-D-glucopyranosyl], oleanoic acid 28-O-beta-D-glucopyranosyl ester (VII).

CONCLUSIONCompounds III-VII were obtained from this plant for the first time.

Achyranthes ; chemistry ; Allantoin ; chemistry ; isolation & purification ; Ecdysterone ; chemistry ; isolation & purification ; Glutamic Acid ; chemistry ; isolation & purification ; Plant Roots ; chemistry ; Plants, Medicinal ; chemistry