Objective To understand the syphilis infection status of high-risk population in Yangdu district of Yancheng city so as to provide a scientific basis for preventive and intervention measures.Methods Serum anti-TP antibody was detected by the en-zyme-linked immunosorbent assays(ELISA).Treponema pallidum particle agglutination(TPPA)assay was carried out on the posi-tive samples of anti-TP antibody,then rapid plasma regain(RPR)was conducted on the positive ones.Results The syphilis antibody positive rate of high-risk population was 14.30%,among them the positive rate of RPR in the syphilis infected persons was 58.18%;the positive rate of syphilis had statistically significant difference between genders in different crowds and different age groups(P <0.05).Conclusion The syphilis infection rate of high-risk population in Yandu district is high.The infection rates of STD clinic clients and the people subjected to reeducation were higher than those of the person accepting voluntary counseling and testing(VCT);the infection rate of 21-40 years old females is significantly higher than that of males.The high-risk population mo-nitoring should be strengthened and the publicity and education and behavior intervention should be carried out to effectively re-strain the spread of syphilis in crowds.

Objective To investigate the antioxidative and antiaging effects of the bioactive extract from Agrocybe aegerita. Method Fruit flies and D-galactose induced aging mice were fed with the bioactive extract from Agrocybe aegerita. The lifespan of fruit fly and spleen index, brain index,SOD activity in serum and lipofuscin level in 1iver of the mice were measured, and its acute toxic effect was studied. Results The bioactive extract from Agrocybe aegerita could significantly increase the mean lifespan and half death time of fruit flies. The percentage of life prolongation was 41.81% compared with the control. Compared to the models, SOD activity in serum,spleen index and brain index of male mice fed with 800mg/(kg.d) of the bioactive extract from Agrocybe aegerita were respectively increased by 42.36%, 33.33% and 17.85%,while lipofuscin content of liver decreased by 50.06%. 20g/(kg.d) of the bioactive extract from Agrocybe aegerita was safe for mouse. Conclusion The bioactive extract from Agrocybe aegerita have obviously antioxidative and antiaging effects with little side effect.

Objective To investigate the clinical features,karyotype,and the prenatal diagnosis for his sibling of a Chinese patient with rare ring chromosome 20 syndrome induced intractable epilepsy.Methods The clinical data of the patient diagnosed in Peking University People's Hospital were collected.The clinical manifestations,chromosome karyotype were summarized.Results The proband,a boy,started to show intermittent tonic seizures or atypical absence seizures and psychomotor retardation from the age of 11 months.Several anti-epilepsy drugs and globulin had been tried without effect.Common karyotype analysis and epilepsy-related genes analysis revealed no abnormality.However,abnormal karyotype 46,XY,r(20)(p13q13.3) in his peripheral blood lymphocytes was found by high resolution chromosome karyotype analysis with 550 G-banding,and the diagnosis of ring chromosome 20 syndrome,type Ⅱ was confirmed.The mother of the patient underwent amniocentesis at the midterm of the second pregnancy.The cultured amniocytes karyotypes were normal.The second child(a boy) of the family was 1 year old without epilepsy and the psychomotor development was normal.Conclusions Ring chromosome 20 syndrome is a rare human chromosome abnormality.The syndrome is associated with epileptic seizures,behavior disorders and mental retardation.Since karyotype testing is not a routine investigation for the patient with epilepsy,the diagnosis of ring chromosome 20 syndrome is usually delayed or misdiagnosed.The karyotype analysis should be considered for the etiological study of the patients with intractable epilepsy with unknown origin.

Objective To investigate the clinical, biochemical and genetic features of a Chinese boy with early-onset glo-boid cell leukodystrophy (GLD). Methods The clinical and genetic data of a rare case of early-onset GLD were retrospectively analysed. Results At 2 months after birth, the boy showed progressive psychomotor regression. At 4 months of age when the boy was taken to a doctor, the pyramidal sign was positive. The cranial MRI showed that the body of the lateral cerebral ventri-cles was slightly enlarged and the brain ditch crack of frontal-temporal-parietal lobe was widened and deepened. On his brain CT scan, high signals in bilateral basal ganglia, thalami, cerebellar hemisphere were observed.β-galactosylceramidase (GALC) ac-tivity in the peripheral leucocytes was signiifcantly decreased (3.9 nmol/g protein.h). On his GALC gene, one homozygous novel mutation c.868C>T on exon 8 was found, which resulted in the amino acid change on p.R290C proteins. Conclutions Early-on-set GLD is a rare autosomal-recessive hereditary lysosomal storage disease with a terrible prognosis, in which beta-galactose glu-coside enzyme deifciency is induced by GALC gene mutation. The diagnosis of early-onset GLD is dififcult and should depend on enzyme assay and gene testing.

Objective: To explore aspirin resistance (AR) phenomenon in patients with coronary artery disease (CAD) for secondary prevention and to study the relationships between AR and COX1, COX2, TBXA2R gene polymorphisms. Methods: A total of 2881 CAD patients taken aspirin (100 mg/day) in 7 consecutive days were enrolled. Among them, 2 groups were established as AR group, n=166 and Control group, n=200 aspirin sensitive patients. Platelet aggregation function was induced by arachidonic acid (AA), COX1, COX2 and TBXA2R gene polymorphisms were examined by polymerase chain reaction-restricted fragment length polymorphisms (PCR-RFLP) method. Results: The occurrence rate of AR was 5.76% (166/2881). There were 8 tagSNPs locus in 3 genes as in COX1:(rs3842788), (rs4273915), (rs7866582); in: COX2 (rs3218625); in TBXA2R: (rs2238630), (rs2238631), (rs2238633), (rs3786989). The frequencies of wild type, heterozygous genotype and homozygous genotype were similar between 2 groups. Conclusion: The incidence rate of AR is not high in CHD patients with regular aspirin medication; single nucleotide gene polymorphisms of COX1, COX2 and TBXA2R have no obvious correlation to AR.

Objective To investigate the imaging characteristics and diagnostic value of tri-phase dynamic enhancement scan with CT for acute renal infarction. Methods The image features of CT plain scan and tri-phase dynamic enhancement scan of 10 patients (19 sides) with acute renal infarction were retrospectively analyzed, and the CTA expression of 6 patients were observed. Results Fourteen acute renal infarction lesions of 10 cases were diagnosed. The CT scan showed there were 4 cases with enlargement of kidney, and the other 6 cases were of no abnormality. The tri-phase enhancement CT scan showed there were 6 cases of unilateral renal infarction and 4 cases of bilateral renal infarction, which totally involving 14 sides. The acute renal infarction lesions lacked of high density region in the corticomedullary in cortical phase, and there were wedge-shaped hypodense area, even low density of full kidney in parenchymal phase and pyelographic phase. The a-cute renal infarction lesions were revealed better in parenchymal phase and pyelographic phase than in cortical phase. Six cases of CTA re-vealed the responsible vessels of renal infarction lesions and the other vascular diseases. Conclusion CT tri-phase dynamic enhancement scan has important value in the diagnosis of acute renal infarction, and CTA can identify the responsible vessels of renal infarction lesions.

Objective To explore the clinical and genetic features in the pedigree of Cb1X type X-linked methylmalonic aciduria. Methods Clinical data of one child with X-linked methylmalonic aciduria diagnosed by blood and urine analysis were analyzed retrospectively. Targeted next-generation sequencing has been performed to detect the mutation of methylmalonic aciduria-related genes. Results The boy started presenting with seizures and severe mental retardation at 2 months of age. At 5 months of age, he had the manifestations of seizures, severe mental retardation, increased methylmalonic acid in urinary, increased propionylcarnitine in blood and increased plasma homocysteine, and met the requirements for the diagnosis of methylmalonic aciduria complicated with hyperhomocysteinemia. No mutation was detected in his MMA-related autosomal genes. However, a hemizygote mutation c.344C?>?T (p.Ala115Val) was identiifed in exon 3 of HCFC1 in X chromosome, which conifrmed the CblX type methylmalonic aciduria. His parents were healthy. His elder brother also manifested severe psychomotor retardation with intractable epilepsy, and died at 6 months of age with unknown cause. His mother carried the same mutation and had slightly elevated urine methylmalonic acid and plasma total homocysteine. His father did not carry the mutation. Conclusion A pedigree of a rare Cb1X type X-linked methylmalonic acidemia is ifrstly diagnosed in China by the new generation sequencing technology.

Objective To evaluate the diagnosis of frozen shoulder with the coracohumeral ligament on the coronal oblique plane with MRI.Methods There were 60 patients(120 shoulder joints)in control group,with 30 males and 30 females,the mean age was 50.5 years old.There were 72 shoulder joints in 72 patients of frozen shoulder group(50 femles and 22 males with a mean age of 53.5 years)with clini-cal evidence and MR imaging evidence of frozen shoulder.These were prospectively analyzed to identify the CHL visualization rate and meas-ure the maximum thickness of the CHL.Results The CHL visualization rate on the coronal oblique plane in the control group was 86.7%(104 /120),and the frozen shoulder group was 87.5%(63 /72),the difference was not significant(P >0.05).The CHL visualization rate on the axial view in the frozen shoulder group was 19.4%(14 /72)and the control group was 24.2%(29 /120),the difference was not signifi-cant(P >0.05).The CHL thickness on the coronal oblique plane (n =63)in the patients with frozen shoulder was (4.37 ±1.71)mm, which was significantly greater than (2.84 ±0.79)mm ofpatients in the control group(n =104),the difference was significant(P <0.001). The CHL thickness on the axial plane(n =14)in the patients with frozen shoulder was (3.93 ±1.49)mm,which was significantly greater than (2.29 ±0.65)mm of patients in the control group(n =29),the difference was significant(P <0.001).Conclusion A thickened CHL is highly suggestive of frozen shoulder,which is 4.37 mm on the coronal oblique plane.

Objective To introduce a case of ethylmalonic encephalopathy which is an autosomal recessive metabolic disorder caused by mutations in the ETHE1 gene. Methods The clinical course and gene mutation in a case of ethylmalonic encephalopathy was retrospectively analysed. Results A previously healthy girl presented with intractable diarrhea from the age of 7 months. Since then, progressive psychomotor regression has been observed. When she was 23 months, her blood butyr-ylcarnitine was signiifcantly increased (4.48μmol/L vs. normal range 0.0~1.0μmol/L), and isovalerylcarnitine (0.70μmol/L vs. normal range 0.0~0.65μmol/L) was also elevated. Her urine levels of ethylmalonic acid and methylsuccinate acid were markedly increased. Cranial MRI revealed bilateral basal ganglia lesions supporting the diagnosis of ethylmalonic encephalopathy. On her ETHE1 gene, a reported mutation (c.488G>A, p.R163Q) and a novel mutation (c.203T>C, p.L68P) were identiifed. After lactose-free dietary treatment and the supplements of L-carnitine, coenzyme Q10, vitamins B1, B2 and C, gradual improvement in general condition, intelligence and motor development has been observed. Conclusions Ethylmalonic aciduria is common in the patients with inborn errors of mitochondrial fatty acid beta-oxidation. In ethylmalonic encephalopathy, elevated blood levels of butyrylcarnitine and isovalerylcarnitine are common and ETHE1 sequencing is helpful in its diagnosis.

Objective To explore the diagnosis of cystinosis.Methods The clinical and biochemical information, and gene detection results in a child with cystinosis was retrospective analyzed.Results Four-year-old female presented with photophobia and corneal crystal was found by ophthalmic examination at 2 years old, bilateral kidney stone was found, accompanied by development delay and rickets at 3 years old. Gas chromatography analysis in urine showed that a variety of amino acids were increased, and urine sugar and urinary micro-protein were also increased, which were in accordance with fanconi syndrome. The blood free carnitine was decreased, ester acyl carnitine spectrum was normal, and multi-amino acids such as lysine, valine and arginine were decreased. Gene analysis showed a homozygous mutation of c.696C>G (p.323 N>K) inCTNS gene, which was a known mutation. Both her parents were carrier of heterozygous mutation of c.696C>G inCTNS gene.Conclusion Child with kidney stone, renal damage, combined by multi-system damage such as eyes, bone, and thyroid should be paid attention to identify the cystinosis.