OBJECTIVETo delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease.

METHODSClinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene.

RESULTSThe patient was admitted at the age of 5 months due to severe epilepsy and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were noted. Cranial magnetic resonance imaging and angiography revealed cortical atrophy, leukoencephalopathy and circuitous of intracranial vessels. The plasma ceruloplasmin was decreased. MLPA has identified a deletion spanning exons 8 to 12 of the ATP7A gene. His mother was found to be a heterozygous carrier of the same mutation.

CONCLUSIONThe clinical features and a novel mutation of the ATP7A gene of the family have been delineated.

Adenosine Triphosphatases ; genetics ; Adult ; Asian Continental Ancestry Group ; genetics ; Cation Transport Proteins ; genetics ; China ; Copper-transporting ATPases ; DNA Mutational Analysis ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome ; genetics ; Mutation ; Pedigree

OBJECTIVETo synthesize artificial diethylstilbestrol (DES) antigen and to prepare DES polyclonal antibody with high titer and sensitivity.

METHODSThe derivative of DES (DES-HS) was synthesized from diethylstilbestrol, ethyl bromoacetate,bovine serum albumin (BSA) and chicken ovalbumin (OVA) with the nucleophilic substitution reaction; the compound was identified by electrospray ionization mass spectrometry(ESI-MS). The DES-HS and the carrier proteins (BSA, OVA) were cross-linked to prepare the artificial antigen; the UV absorption spectrophotometry and high performance liquid chromatography (HPLC) were used to identify the prepared artificial antigen. The rabbits were immunized with the DES artificial antigen to prepare the DES polyclonal antibodies.

RESULTSThe DES-HS was synthesized. The DES artificial antigen was prepared successfully with a coupling rate of 22:1. The DES polyclonal antibodies with a titer of 1:25 600 and IC50 of 10.81 ng/ml were prepared with DES artificial antigen.

CONCLUSIONA set of methods to synthesize DES artificial antigen and to prepare the DES polyclonal antibodies has been developed successfully.

Animals ; Antibodies ; immunology ; Antigens ; chemistry ; immunology ; Diethylstilbestrol ; analogs & derivatives ; immunology ; Enzyme-Linked Immunosorbent Assay ; methods ; Male ; Rabbits

OBJECTIVETo prepare the antibodies against salbutamol (SAL) with high sensitivity and to develop an indirect competitive enzyme-linked immunoassay (ic-ELISA) for fast detection of SAL.

METHODSThe New Zealand white rabbits were immunized with SAL in a small dose and long period mode. The method of ic-ELISA was optimized and adopted for the detection of a series of SAL samples, then the standard curve of SAL was established. The precision and the recoveries of the method were determined.

RESULTSThe antibodies with high sensitivity towards SAL were prepared with a IC50 of 12.21 ng/ml. The ic-ELISA method for SAL measurement was established, the recoveries of measurement was between 95%-105% and the CV was <3%.

CONCLUSIONThe antibodies against salbutamol have been prepared and an indirect competitive enzyme-linked immunoassay for fast and specific detection of SAL has been developed.

Albuterol ; analysis ; immunology ; Animals ; Antibodies ; immunology ; Enzyme-Linked Immunosorbent Assay ; methods ; Male ; Rabbits

OBJECTIVETo detect common environmental pollutants in human body.

METHODSUrine samples were collected from 80 healthy subjects. Chromatography mass spectrometry (GC-MS), HPLC and ELISA were applied to detect several common environmental pollutants in urine samples.

RESULTSDBP and methylbenzene were present in 75.3% and 41.2% of urine samples. The methanal and AFM1 were found in most of urine samples (approximately 91≊97%). By contrast, PCBs, CPZ, 4, 5-DCC were found in less than 5 samples, but there was no TMT detected.

CONCLUSIONSome of the environmental pollutants including carcinogens are detected in urine samples in this study.

Adolescent ; Adult ; Aged ; Environmental Exposure ; Environmental Pollutants ; urine ; Humans ; Middle Aged ; Young Adult

One hundred and fifty femoral head necrosis patients with intramedullary decompression received autologous stem cell transplantation. The blood was taken from unilateral or bilateral iliac, in each group the volumes of blood taken were 200, 300 or 400 ml respectively. The number of mononuclear cells was counted before and after centrifugation. The mononuclear cell count in subgroup of 200 ml,300 ml and 400 ml taken from unilateral iliac after centrifugation was (3. 11 ±1. 42) × 1010/L, (2. 62 ±1. 31 ) × 1010/L and(2. 13 ±. 91) × 1010/L. The concentration was significantly lower in subgroup of 400 ml than that of 200 ml (t=5. 118, P<0. 01). The mononuclear cells count in subgroup of 200 ml,300 ml and 400 ml taken from bilateral iliac was(4. 51 ±. 21) × 1010/L, (3. 89 ±. 06) × 1010/L and (2. 98 ±1. 39) × 1010/L, the concentration was significantly lower in subgroup of 400 ml than that of subgroup of 200 ml (t = 6. 446, P < 0. 01). Whether 200 ml or 300 ml or 400 ml blood were taken, the mononuclear cell count in blood taken from bilateral iliac after centrifugation was significantly higher than that from unilateral iliac(t = 3. 119,P < 0. 01; t = 5. 544, P < 0. 01 ;t = 2. 207 ,P < 0. 05). The results indicate that the concentration of isolated bone marrow mononuclear cells is higher from bilateral iliac than unilateral iliac. The concentration of isolated monocytes is reduced gradually with the increased blood volume.

potential use in clinical therapy and prognosis estimation of the tumor.

OBJECTIVE:To evaluate the rational use of antimicrobials in 160 cases undergoing orthopaedic operations.MET_HODS:To analyse and evaluate the use of antimicrobials in 160 cases undergoing orthopaedic operations in 1999 in respect to the cost of antimicrobials related cost ratio,usage,clinical efficacy,and adverse drug reactions.RESULTS:The cost of antimicrobials per person()was 1 676.55 yuans and average day of treatment()was (7.3?3.4)d.151 patients healed by first intension.9 patients recovered in delayed healing.The ratio of the total cost,cost of drugs and cost of antimicrobials was 1∶0.38∶0.14.CONCLUSION:The use of the antimicrobials in 160 cases undergoing orthopaedic operations was reasonable.