ObjectiveTo explore the clinical and epidemiological value of semi-quantitative regional cerebral blood flow(rCBF)imaging in children with school phobia. Methods A total of 20 cases diagnosed with school phobia were examined with rCBF.Twelve were males and the other 8 were females.The mean age was(14.2?2.1)years(11-18 years).Semi-quantitative analysis methods were used to investigate the correlations among gender,age and rCBF. ResultsThere were significant differences in the rCBF of right fronto-parietal lobe,right occipital lobe,caput and putamen,left thalamus and hippocampus,and temporo-occipital lobe between males and females(P0.05).Only the PI of left temporo-parietal lobe of those ≥ 15 years old was significantly different from that of those

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

Objective To investigate the curative effect of brucellar spondylitis,so as to provide scientific proof for improving the curative level of the disease.Methods Epidemiological information was collected from 113 patients diagnosed as brucellar spondylitis,who were divided into 5 groups according to different drugs and drug combinations of doxycycline,gentamicin,sulfamethoxazole and rifampicin.Then the curative effect was investigated.Twenty-one patients who had greater paoas muscle abscess or Para vertebral abscess,intraspinal abscess of spinal canal,necrotic intervertebral disk and major osteolasia received the minimal invasive surgery and the focus removal surgery.Results The occurrence of the disease in female was much higher than that in male.Grazing and breeding beasts was the principal route of infection.Lumbars was mostly involved.they usually was infected in the adjacent 2 piece.L4 was the most common and seriuous one.The curative effect of doxycycline group was better than that without doxycycline(72.60% vs 35.00%,X2=15.14,P＜0.05).Doxycyeline+gentamicin+sulfamethoxazole was reeommended as the first choice.However,the curative effect did not increase despi~course of the treatment prolonged.The heMing rate and effective rate after 1 course was 52.21%(59/113)and 92.04%(104/113).that after 2 courses 58.41%(66/113)and 95.58%(108/113),that after 3 courses 59.29%(67/113)and 95.58%(108/113).The healing rate in different course did not present differences(P＞0.05).21 patients undergoing surgery were followed-up,12 patients were after 2 years and 9 patients were between 1-2 years.The healing rate was 95.24%(20/21),1 case was healed basically,the effective rate was 100%.None reoccurred.Conclusions There are characterized features in clinical epidemiology of the brucell spondylitis.Long term,adequate in dosage,combination and multi-approach use of antibiotics is the most reliable way to treat and prevent it from recurring.But fof the patients soitable for surgery.the minimal invasive surgery or the focus removal could shorten the course of therapy,decrease the complications and increase the cure rate.

Abstract: Mycobacterium senegalense is one of the major pathogens causing bovine farcy, and reports of its infection in human are rare. Here is a report on a woman who had been taking hormones and immunosuppressants for a long time for SLE and underwent abdominal soft tissue infection with Mycobacterium senegalense after abdominal liposuction, to provide reference for clinical diagnosis and treatment. The patient, female, 32 years old, has a history of SLE for more than 2 years, and currently takes "methylprednisolone, hydroxychloroquine, and mycophenolate mofetil" regularly. Nine months before the patient was admitted to the hospital, she once performed abdominal, waist and buttock liposuction in a medical beauty institution. One month after the operation, several masses gradually appeared on the abdominal wall, accompanied by tenderness, one of the masses had obvious fluctuation on palpation and purulent fluid could be drawn out. The location of the abdominal wall mass was consistent with the insertion site of the liposuction needle. After the onset of the disease, the patient went to the medical beauty institution for puncture of the abdominal wall mass, and 5 mL of purulent fluid was pierced and sent for bacterial culture, and cultured "Mycobacterium Senegalense", after 3 days of treatment with "cephalosporin" antibiotics (specifically unknown), the symptoms did not improve, so she went to the second affiliated hospital of hainan medical college. After completing the relevant examinations during the hospitalization in our hospital, in order to clarify the etiology, another abdominal puncture to extract pus was performed, the mycobacterial culture + identification results: Mycobacterium senegalense. Consistent with the out-of-hospital results, the diagnosis of Mycobacterium senegalense infection was confirmed. After 3 months of treatment with "cefoxitin, azithromycin, amikacin, and levofloxacin", the patient's abdominal wall soft tissue infection was cured. Trauma or invasive procedures can lead to skin, muscle, or bone infection with nontuberculous mycobacteria (NTM), which can manifest as chronic painless nodules that progress to purulent folliculitis and abscesses. NTM infection should be suspected when the patient's wound has been exposed to water, there is a history of surgery, and empirical anti-infection is ineffective. This is the first case of Mycobacterium senegalense infection caused by medical beauty, which tell people that they should be cautious when choosing medical aesthetic projects and medical aesthetic institutions.

OBJECTIVETo observe different effects of moxibustion on extracellular potassium ion in acupoint under physiological and pathological status and provide experimental evidence for exploring action mechanism of moxibustion on acupoint local.

METHODSForty female SD rats were randomly divided into a blank group, a blank-moxibustion group, a model group and a model-moxibustion group, 10 cases in each one. The complete Freund's adjuvant(CFA) was adopted to establish model of adjuvant arthritis (AA) in the model group and model-moxibustion group. No treatment was given in the blank group and model group while moxibustion was applied at "Zusan-li" (ST 36) for 30 min in the blank-moxibustion group and model-moxibustion group. The tissue fluid in "Zusanli" (ST 36) was collected with microdialysis and real-time analyzed by electrolytic analyzer. The change of concentration of potassium ion in "Zusanli" (ST 36) was observed.

RESULTS(1) Under physiological status, the concentration of extracellular potassium ion in the blank group was not changed within 150 min (P > 0.05); before the moxibustion, the concentration of extracellular potassium ion in the blank-moxibustion group was (1.21 +/- 0.31) mmol/L, and after treatment it was gradually increased and reached its peak at (2.38 +/- 0.42) mmol/L after 60 min (P < 0.05), then it was reduced. 150 min after the treatment, concentration of potassium ion was slightly higher than that before moxibustion as well as that in the blank group. The concentration in the blank-moxibustion group at 60 min was statistically significant compared with that in the blank group (P < 0.05). (2) Under pathological status, the concentration of extracellular potassium ion in the model group was not changed within 150 min, differences of which at each time point was not statistically significant (all P > 0.05). Before the moxibustion, the concentration of extracellular potassium ion was (1.09 +/- 0.12) mmol/L in the model-moxibustion group, and it was immediately increased to (1.96 +/- 0.18) mmol/L after moxibustion. 60 min and 90 min after the moxibustion, it still maintained a higher level, which was (1.87 +/- 0.29) mmol/L and (1.59 +/- 0.16) mmol/L respectively (both P < 0.05). The differences of each time point after moxibustion in the model-moxibustion group were statistically significant compared with those in the model group (all P < 0.05).

CONCLUSIONThe moxibustion could increase the concentration of potassium ion in rat's acupoint local under physiological status but time of effect is short; with moxibustion at "Zusanli" (ST 36) under pathological status, the concentration of local potassium ion is obviously increased and maintains for a long time.

Acupuncture Points ; Animals ; Arthritis, Experimental ; metabolism ; therapy ; Disease Models, Animal ; Female ; Humans ; Moxibustion ; Potassium ; metabolism ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo report a case of myelodysplastic syndrome(MDS) with t(1;18)(p31;p11).

METHODSChromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was made by R banding technique. Chromosome painting was performed using whole chromosome probes 1 and 18.

RESULTSConventional karyotype analysis revealed t(1;18)(p31;p11) in this patient. Chromosome painting analysis confirmed this result.

CONCLUSIONThe translocation of (1;18) was an unusual recurrent chromosome change and was reported on MDS for the first time.

Adult ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 18 ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Myelodysplastic Syndromes ; genetics ; Translocation, Genetic ; genetics

The paper reports the development of a quality evaluation method for Angelica different processed products. The data of high-performance liquid chromatography, water, total ash and extract were analyzed with SPSS Clementine 11.0 software. Discriminant analysis (DA) established the classification model and parameter for Angelica different processed products. Fish's discriminant functions of Angelica different processed products were generated using 8 predictor variables selected from 59 indexes. The correct rate of discriminating back substitution is 96.7%. Angelica different processed products can be accurately and reliably recognized and validated with DA of SPSS Clementine 11.0 software.
Angelica ; chemistry ; Chromatography, High Pressure Liquid ; methods ; Data Mining ; Drugs, Chinese Herbal ; analysis ; standards ; Plant Roots ; chemistry ; Plants, Medicinal ; chemistry ; Quality Control ; Software

Objective To screen the mutation of certain gene of a 10-years-old boy with multiple xanthomas and very high level of cholesterol who could be diagnosed as homozygous familial hypercholesterolemia (FH),to explore the relationship between the genotype and phenotype,and to discuss the molecular pathologic mechanism.Methods The basic information of life styles were asked from the boy and his familial members.The blood was drown to examine the lipid and genes.The boy was examined with electrocardiogram examination,ultrasonography and coronary CT angiography (CTA) to evaluate the degree of atherosclerosis.Peripheral blood DNA of the boy and his parents were extracted by phenol-chloroform method and investigated for mutations of promoter and all 18 exons of low density lipoprotein receptor(LDLR) gene.Screening was carried out by using Touch-down polymerase chain reaction (PCR) and single strand conformation polymorphism(PCR-SSCP),combined with DNA sequence analysis.In addition,the apolipoprotein B100 gene(apoB100) for known mutations (R3500Q) which caused familial defective apoB100 was screened by PCR-DNA sequence analysis.Results 1.The level of cholesterol of his parents were higher than the normal.2.Several clinical manifestations of atherosclerosis were detected from that boy.Increased intima-media thickness and plaques were detected in the common carotid artery.Mitral valve regurgitation was found by echocardiography.Coronary stenosis was confirmed by CTA.3.No mutations R3500Q of apoB100 was observed.4.A homozygous mutation in exon13 of the LDLR gene (D601Y) were identified in the boy and his parents harbour D601Y heterozygous mutation due to a single base pair substitution of G for T in the codon for residue 1864.Conclusions The final diagnosis of the boy with multiple xanthomas was homozygous FH.His disease was caused by D601Y homozygous mutation in exon13 of the LDLR gene inherited from his heterozygous parents.

BACKGROUNDFamilial hypercholesterolemia (FH) is an autosomal disorder associated with elevated plasma low density lipoprotein (LDL) levels leading to premature coronary heart disease (CHD). As a result of long-term hyperlipemia, FH patients will present endarterium thickening and artherosclerosis. In the present study we scanned the related gene of a clinically diagnosed autosomal genetic hypercholesterolemia family for the possible mutations and established eukaryotic expression vector of mutation of proprotein convertase subtilisin/kexin type 9 (PCSK9) gene with gene recombination technique to investigate the contributions of the variation on low density lipoprotein receptor (LDL-R) metabolism and function alternation.

METHODSMutation detection was conducted for LDL-R, apolipoprotein B(100) (apoB(100)) and PCSK9 gene with nucleotide sequencing in a Chinese FH family. The full-length cDNA of wild type PCSK9 gene (WT-PCSK9) was obtained from Bel-7402. Site mutagenesis was used to establish the recombinant eukaryotic expression vector carrying pathogenic type of PCSK9 gene and the inserted fragment was sequenced. With the blank vector as control, liposome transfection method was used to transfect the Bel-7402 cells with recombinant plasmid. The expression of LDL-R mRNA was examined by RT-PCR. PCSK9 and the expression of LDL-R protein were determined by Western blotting.

RESULTSThe G-->T mutation at the 918 nucleotide of PCSK9 gene resulted in the substitution of the arginine by a serine at the codon 306 of exon 6. After sequencing, it was confirmed that the inserted fragment of established expression vector had correct size and sequence and the mutant was highly expressed in Bel-7402 cells. There was no significant variation in the levels of LDL-R mRNA. LDL-R mature protein was decreased by 57% after the cells were transfected by WT-PCSK9 plasmid. Mature LDL-R was significantly decreased by 12% after the cells were transfected by R306S mutant as evidenced by gray scale scanning, suggesting that the new mutant R306S can significantly decrease the expression of mature LDL-R protein.

CONCLUSIONSA novel missense mutation of PCSK9 gene, R306S, was found and the eukaryotic expression vectors of mutant and wild-type of PCSK9 gene were established. There was no significant variation in the levels of LDL-R mRNA. The R306S mutation could significantly lead to the decrease of LDL-R mature protein expression, which might be the pathogenic gene of the FH family.

Adolescent ; Adult ; Female ; Humans ; Hyperlipoproteinemia Type II ; genetics ; Lipids ; blood ; Male ; Mutation ; Pedigree ; Proprotein Convertase 9 ; Proprotein Convertases ; Serine Endopeptidases ; genetics

OBJECTIVETo study the chemical constituents of Arenaria kansuensis.

METHODColumn chromatographic techniques were applied to isolated constituents. A combination of physico-chemical properties and spectroscopic analysis were used to identify structures of constituents.

RESULTFive compounds were obtained and elucidated as tricin (1), tricin-7-O-beta-D-glucopyranoside (2), tricin 4'-O-beta-guaiacylglyceryl ether (3), isoscoparin (4) and isovitexin (5).

CONCLUSIONCompound 2, 3 and 5 were isolated from A. kansuensis for the first time, compound 3 was obtained from the family Caryophyllaceae for the first time.

Apigenin ; chemistry ; isolation & purification ; Arenaria Plant ; chemistry ; Flavones ; chemistry ; isolation & purification ; Flavonoids ; chemistry ; isolation & purification ; Glucosides ; chemistry ; isolation & purification ; Plants, Medicinal ; chemistry ; Tibet