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

OBJECTIVETo evaluate the technique and significance of mastoscopic axillary sentinel lymph node biopsy.

METHODSSixty-two patients with breast cancer use methylene blue to test axillary sentinel lymph node. Sentinel lymph node was moved with endoscopy, and endoscopic axillary lymph nod dissection was performed. Pathological examination of sentinel lymph node and axillary lymph node was made with HE. To evaluate detection rate and false negative rate in sentinel lymph node.

RESULTSAmong the 62 patients, 61 were confirmed by endoscopic axillary sentinel lymph nod biopsy. Detection rate was 98.4%. Thirty-five cases were no metastasis, 27 cases were metastasis, false negative rate was 0.

CONCLUSIONSMastoscopic axillary sentinel lymph node biopsy has a high detection rate, good efficiency of cosmetic and lower complications. It has higher sensitivity than traditional axillary lymph nod dissection and provide accurate lymph node stages.

Adult ; Aged ; Breast Neoplasms ; pathology ; Endoscopy ; methods ; Female ; Humans ; Lymphatic Metastasis ; diagnosis ; Middle Aged ; Sensitivity and Specificity ; Sentinel Lymph Node Biopsy ; methods

In the present study, three compounds were isolated from Argyreia acuta, among them, compounds 1 and 2 were new and Compounds 1 and 3 were isomers. They were separated by several types of columns, such as normal phase, RP, size exclusion and preparative HPLC, and their structures were elucidated by several spectroscopic methods, such as 1D- and 2D-NMR and HR-TOF-MS.
Convolvulaceae ; chemistry ; Drugs, Chinese Herbal ; chemistry ; Glycosides ; chemistry ; isolation & purification ; Isomerism ; Mass Spectrometry ; Molecular Structure ; Nuclear Magnetic Resonance, Biomolecular ; Plant Components, Aerial ; chemistry ; Resins, Plant ; chemistry ; isolation & purification ; Spectrophotometry