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 ceramide produced by sphingomyelin in normal laryngeal mucosa, laryngeal precancerous lesion and laryngeal carcinoma.

METHODSOne hundred and seventy-eight consecutive patients with leukoplakia larynx were identified from the archived pathology files of Eye Ear Nose and Throat Hospital of Fudan University from 1991 to 2001. Among them, 31 patients developed laryngeal carcinoma. Flow cytometry (FCM) and immunohistochemistry were performed to test DNA content and ceramide expression on normal tissue, precancerous lesions and laryngeal carcinoma

RESULTSAmong thirty-one patients with laryngeal carcinoma, thirty-one cases are all aneuploids, diploids in all normal laryngeal mucosa and three diploids, twenty-eight aneuploids in precancerous lesions. Expression of ceramide decreased gradually from normal tissue, precancerous lesions to laryngeal carcinoma Cell staining per high-power field: (400 +/- 30, 180 +/- 20, 10 +/- 10), t test: P < 0.01. The expression of ceramide in DNA diploid cell (400 +/- 20) is more than that in aneuploid cell (150 +/- 10), t test: P < 0.01.

CONCLUSIONSCeramide, the second messenger in apoptosis, plays a significant role from precancerous lesion to carcinoma of larynx. Reduction of ceramide may be the key factor contribution to laryngeal carcinogenesis.

Aged ; Aged, 80 and over ; Apoptosis ; Carcinoma, Squamous Cell ; metabolism ; pathology ; Cell Transformation, Neoplastic ; pathology ; Ceramides ; metabolism ; Female ; Humans ; Laryngeal Neoplasms ; metabolism ; pathology ; Larynx ; metabolism ; pathology ; Male ; Middle Aged ; Precancerous Conditions ; metabolism ; pathology

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

BACKGROUNDVasoactive factors have been reported to correlate with vulnerable plaque and acute coronary syndrome (ACS). This study aimed to investigate the relationship between vasoactive factors and plaque morphology in patients suffering from non-ST-segment elevated ACS.

METHODSFrom April 2007 to April 2009, 124 consecutive patients suffering from non-ST-segment elevated ACS who had received coronary angiography (CAG) and intravascular ultrasound (IVUS) in the People's Liberation Army General Hospital and Beijing Anzhen Hospital were enrolled in this study. Three serum vasoactive factors, plasma soluble vascular endothelial growth factor receptor-1 (sFlt-1), placental growth factor (PLGF) and interleukin-18 (IL-18), were measured by enzyme-linked-immunosorbent serologic assay of the patients. The levels of vasoactive factors were compared between vulnerable plaque group and stable plaque group, and between unstable angina pectoris (UAP) group and non-ST-segment elevation acute myocardial infarction (NSTE-AMI) group. The relationship between the plaque morphology and levels of vasoactive factors was analyzed.

RESULTSThe levels of vasoactive factors were similar between the UAP group (69 patients) and NSTE-AMI group (55 patients). The levels of sFlt-1 and PLGF in the vulnerable plaque group were significantly higher than those in the stable plaque group. The level of IL-18 was correlated positively with plaque morphology. Multivariate Logistic regression analysis showed that the level of PLGF was an independent risk factor for vulnerable plaque (OR=2.115, 95% CI 1.415-5.758, P=0.018). Using the ROC curve, PLGF was a significant factor for the diagnosis of vulnerable plaque (the diagnostic point was 26.3 ng/L, the proportion of square area under the ROC curve was 0.799, 95%CI 0.758-0.839, P<0.001; the sensitivity of PLGF under the ROC curve was 86%, and the specificity 63%).

CONCLUSIONBoth IL-18 and PLGF are biomarkers for vulnerable plaques and helpful to predict vulnerable plaque.

Acute Coronary Syndrome ; blood ; diagnostic imaging ; Aged ; Angina Pectoris ; blood ; diagnostic imaging ; Angina, Unstable ; blood ; diagnostic imaging ; Coronary Angiography ; Female ; Humans ; Interleukin-18 ; blood ; Male ; Middle Aged ; Placenta Growth Factor ; Pregnancy Proteins ; blood ; Ultrasonography, Interventional ; Vascular Endothelial Growth Factor Receptor-1 ; blood

OBJECTIVETo study the effect of Jinguo Weikang Capsule [see text] on the gene expression of H-ras, epidermal growth factor receptor (EGFR), P53 and C-myc of the gastric mucosa in rats with gastric precancerous lesions, and to investigate the action mechanism of JWC on gastric precancerous lesions.

METHODSA rat model with paratypical proliferation of the gastric epithelium mucosa was established by using 60Co irradiation. Rats were divided into the normal group, model group, high-, medium-, low-dose JWC treatment groups, and the vitacoenzyme control group, and were treated for 30 days. The expression of H-ras, EGFR, P53 and C-myc genes of the gastric mucosa was detected by using immunohistochemical methods.

RESULTSThe expression and over-expression rates of H-ras, EGFR, P53 and C-myc gene in the high-and medium-dose JWC treatment groups were significantly lower (P<0.05) as compared with those of the model group.

CONCLUSIONJWC can inhibit the expression of the H-ras, EGFR, P53 and C-myc genes expression of the gastric mucosa in rats, which may be one of mechanisms involved in suppressing or reversing gastric carcinogenesis.

Animals ; Drugs, Chinese Herbal ; pharmacology ; Gastric Mucosa ; drug effects ; metabolism ; pathology ; Gene Expression Regulation, Neoplastic ; drug effects ; Immunohistochemistry ; Oncogene Proteins ; metabolism ; Precancerous Conditions ; metabolism ; pathology ; Proto-Oncogene Proteins ; metabolism ; Proto-Oncogene Proteins c-myc ; metabolism ; Rats ; Rats, Sprague-Dawley ; Receptor, Epidermal Growth Factor ; metabolism ; Tumor Suppressor Protein p53 ; metabolism ; ras Proteins ; metabolism