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.

OBJECTIVESTo explore whether the angiotensin I -converting enzyme (ACE) I/D (insertion/ deletion) polymorphism is associated with the susceptibility to high altitude pulmonary edema (HAPE) in the Han Chinese.

METHODSOne hundred and forty-seven HAPE-p (HAPE patients) and 193 HAPE-r (HAPE resistants) were enrolled from the Yushu earthquake reconstruction workers in Qinghai province where the altitude is over 3 500 m above sea level. Blood samples were collected from each of the HAPE-p and HAPE-r groups. Information about physiological phenotypes was obtained via fieldwork investigation. The ACE-I/D polymorphism in HAPE-p and HAPE-r was detected by polymerase chain reaction (PCR).

RESULTSThe SaO2 was significantly lower while HR was significantly higher in HAPE-p group than those in HAPE-r group. The genotype frequencies of ACE-I/D for II, ID, DD in HAPE-r and HAPE-p groups were 0.430, 0.446, 0.124 and 0.435, 0.469, 0.095, respectively, the allelic frequencies of I and D were 0.650, 0.350 and 0.670, 0.330, respectively. The OR of ID, DD and D alleles relative to II for HAPE was 0.961 (0.610-1.514), 1.322 (0.634-2.758) and 1.080 (0.783-1.489). There was no significant difference of the genotypic and the allelic frequencies in ACE-I/D polymorphism between HAPE-p and HAPE-r groups.

CONCLUSIONSThere is no relation between ACE-I/D polymorphism and HAPE in the Han Chinese.

Alleles ; Altitude ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; Gene Frequency ; Genotype ; Humans ; Peptidyl-Dipeptidase A ; genetics ; Polymorphism, Genetic ; Pulmonary Edema ; genetics

Objective To analyze the genetic model of attention deficit hyperactivity disorder(ADHD).Methods The segregation analysis and polygenic multiple threshold model were used to prove the polygenic model and to estimate the heritability and recurrence risk of ADHD in each degree relatives.Results 1. The average heritability of ADHD was (102.47?9.78)%;2.The first-degree relatives of probands were in high risk for ADHD(23.0%)compared with colony prevalence rate(2.6%). The ADHD prevalence of each degree relatives rapidly decreased with the increased magnitude of consanguineous relationship of each degree relatives and ADHD probands. Conclusions The genetic model of ADHD is the most likely polygenic inheritance with major genes, which suggested that the genetic factor might play an important role in the liability variance of ADHD.Apart from the involvement of multiple genes,each gene contributes a small additive effect,and the major genes may be involved as well.

To obtain high-yield avilamycin-producing strains,low energy N~+ ion implantation technology and screening of streptomycin-re- sistant mutants are used in the study on breeding mutation.The results show that,“saddle”region,which range is from 3?10~(15) to 5?10~(15) ions/cm~2,has got better induced mutation action.It also means that the strain's resistant mutation and yield mutation closely correlate to each other,and the method of streptomycin resistant screening is feasible.We have isolated a high-yield strain SVT-45 which the productivi- ty is 195% higher than the original strain's in the rotation-flask experiments.These results showed that the ion implantation was an effective method for microbe mutagensis.

Animals ; Aorta ; pathology ; Apolipoproteins E ; deficiency ; Atherosclerosis ; metabolism ; pathology ; Female ; Glycosides ; isolation & purification ; pharmacology ; Intercellular Adhesion Molecule-1 ; metabolism ; Mice ; Plants, Medicinal ; chemistry ; Polygonum ; chemistry ; Vascular Cell Adhesion Molecule-1 ; metabolism

Objective To study the effects of fluorine and aluminum on index of hematologic tests of rats. Methods According to body mass,56 Wistar rats of 130-200 g were randomly divided into control,low-fluorine (F),middle-F,high-F,low-F + aluminum(Al),middle-F + Al,high-F + Al group,8 rats in each group were given a series of doses of fluoride and aluminum,which were (0 + 0),(100 + 0),(200 + 0),(300 + 0),(100 + 10),(200 + 10),(300 + 10)mg/L After 90-day intragastrie administration,blood samples were collected on eyes of rats to undergo blood routine test,including red blood cell (RBC),lymphocyte (LYM),platelet (PLT),hemoglobin (HGB),white blood cell (WBC),hematocrit (HCT),mean corpuscular hemoglobin (MCH),mean corpuscular-hemoglobin concentration(MCHC),mean corpuscular volume(MCV),and at the same time some blood biochemistry indicators related to functio ns of liver and kidney were determined such as aspartic acid aminotransferase(AST),alanine aminotransferase(ALT),alkaline phosphatase(ALP),Crea(Cr) and Urea. Organ coefficient of liver and kidney were calculated. Results The difference of RBC,HCT,MCV among all groups of rats was statistically significant(F = 3.202,3.316,2.915,P < 0.05). The RBC,HCT of the low-F group[(7.59± 2.40)×10~(12)/L,0.51±0.11],the middle-F group[(8.60±1.16)×10~(12)/L,0.55±0.05],the high-F group[(9.23± 0.60)×10~(12)/L,0.54±0.03],the low-F + Al group[(9.25±0.79)×10~(12)/L,0.53±0.04],the middle-F + Al group[(7.98±2.14)×10~(12)/L,0.49±0.08]and the high-F + Al group[(7.61±3.17)×10~(12)/L,0.49±0.16]were significantly higher than that in the control group[(4.46±3.10)×10~(12)/L,0.31±0.16,P< 0.05 or < 0.01)]. The MCV of the middle-F group[(64.06±6.51)fl],high-F group[(58.67±1.13)fl],low-F + Al group[(57.78± 1.57)fl]and the middle-F + Al group[(63.04±10.64)fl]were significantly higher than the control group[(78.54± 15.57)fl,P < 0.05 or < 0.01]. The difference of AST and Urea among all the groups of mrs serum was statistically significant(F= 2.847,5.549,P < 0.05 or < 0.01). The serum AST of low-F group[(399.00±54.99)U/L],the middle-Fgroup[(465.60±76.99)U/L],the high-F group[(465.80±75.41)U/L],the low-F + Al group[(346.00±69.26) U/L],the middle-F + Al group[(437.40±68.31)U/L]and the high-F + Al group[(403.00±30.61)U/L]were all significantly higher than that in the control group[(336.67±94.34)U/L,P < 0.05],and the high-F group significantly higher than the high-F + Al group(P < 0.05). The serum Urea of the middle-F group[(7.70±0.52)mmol/L],the high-F group[(8.44±1.30)mmol/L],the low-F + Al group[(7.83±0.62)mmol/L],the middle-F + Al group [(7.73±0.47)mmol/L],and the high fluoride + aluminum group[(7.70±0.21)mmol/L]were all significantly higher than that in the control group[(6.55±0.50)mmol/L,P< 0.05 or < 0.01],and the low-F group was significantly lower than the low-F + Al group(P < 0.01),however the high-F group was significantly higher than that in the high-F + Al group(P< 0.05). The liver organ coefficient of the low-F group(2.94±0.36) was higher than the low-F + Al group (2.60±0.15,P < 0.05). Conclusions Fluorine and combination of aluminum and fluorine have toxicity on rats to a certain extent,including the proliferation of crythrocytes of rat,while the cell size gets smaller and the cell quality is deteriorated,meanwhile functions of liver and kidney are impaired. Aluminum shows different joint action in different concentrations of fluorine.

Objective To approach the clinical significance of Clara cell secretary protein(CCSP) in bronchial asthmatic children. Methods Serum were collected from 50 cases during asthmatic attacks, 22 asthmatic children who were in stable conditions, and 20 healthy children. Serum CCSP concentrations were measured by a human CCSP enzyme- linked immunosorbent assay (ELISA). Results Asthmatic children had significantly lower levels of CCSP in serum during asthmatic attacks(P

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

Subcutaneous implantation of benign thyroid tissue is a rare complication of thyroid surgery. Here the authors report two cases of subcutaneous implantation of benign thyroid tissue following conventional thyroid surgery. The diagnosis and differential diagnosis of cervical subcutaneous thyroid tissue implantation, and their clinical pathological characteristics are retrospectively investigated. The mechanism of the implantation process is analyzed. The management of patient with cervical subcutaneous soft tissue implantation is also discussed.
Adult ; Female ; Humans ; Postoperative Complications ; Thyroid Gland ; pathology ; surgery ; Thyroidectomy ; adverse effects

OBJECTIVETo study the teratogenicity of new high-energy compounds, 3, 4 two furazan-based oxidation furazan (DNTF) and the impact on human health, occupational exposure limits were provided for the following research.

METHODSPregnant SD rats were randomly divided into five groups by Standard teratogenicity test, including three dose groups (5.0, 15.8, 50.0 mg/kg), the negative control (vegetable oil), and the positive control group (CP 10.0 mg/kg). Each 10 to 15 rats were in one group. Gavage was consecutive for rats during pregnancy 7 ∼ 12 d and then sacrifice after 20 d.

RESULTSThere were no significantly difference between the three dose groups and negative controls in the pregnancy rate, the weight of pregnant rats, fetal weight, fetal growth, fetal malformation rate and internal organs,

CONCLUSIONThere were no maternal toxicity, embryo toxicity and teratogenicity for rats when DNTF in the range 5.0 ∼ 50.0 mg/kg.

Animals ; Female ; Nitrofurazone ; toxicity ; Pregnancy ; Rats ; Rats, Sprague-Dawley ; Teratogens