This report described a fetus with prenatal ultrasound findings of microcephaly, lateral ventriculomegaly, and shallow lateral Sylvian fissures, ultimately diagnosed with complex cortical dysplasia with other brain malformations 4 through family-based whole-exome sequencing. At 25 weeks of gestation, prenatal ultrasound revealed fetal microcephaly, mild ventriculomegaly, and shallow Sylvian fissures. Neither chromosomal karyotyping nor chromosomal microarray analysis detected abnormalities. Family-based whole-exome sequencing identified a de novo heterozygous missense variant in TUBG1 gene [c.511G>C (p.Val171Leu)], leading to a diagnosis of complex cortical dysplasia with other brain malformations 4. Following genetic counseling, the pregnancy was terminated.

This report described a fetus with prenatal ultrasound findings of microcephaly, lateral ventriculomegaly, and shallow lateral Sylvian fissures, ultimately diagnosed with complex cortical dysplasia with other brain malformations 4 through family-based whole-exome sequencing. At 25 weeks of gestation, prenatal ultrasound revealed fetal microcephaly, mild ventriculomegaly, and shallow Sylvian fissures. Neither chromosomal karyotyping nor chromosomal microarray analysis detected abnormalities. Family-based whole-exome sequencing identified a de novo heterozygous missense variant in TUBG1 gene [c.511G>C (p.Val171Leu)], leading to a diagnosis of complex cortical dysplasia with other brain malformations 4. Following genetic counseling, the pregnancy was terminated.

Objective:To evaluate the diagnostic value of gene testing in familial hypercholesterolemia (FH) in patients with premature myocardial infarction(PMI).Methods:This study was a single center cross-sectional study. A retrospective analysis was made on PMI patients who visited the People′s Hospital of Peking University from May 1, 2015 to March 31, 2017. Clinical data of patients was collected and gene testing of FH related genes low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 (PCSK9), apolipoprotein B(APOB) and low density lipoprotein receptor adaptor protein 1(LDLRAP1) was carried out. Clinical diagnosis of FH patients was performed using Simon Broome criteria, DLCN criteria, and FH Chinese expert consensus.Results:There were 188 males (83.6%) among 225 PMI patients, and the age of the first myocardial infarction was (46.6±7.2) years old. Ten patients carried FH pathogenic or possibly pathogenic mutations (4.4%). Compared with Simon Broome standard, DLCN standard and FH Chinese expert consensus, gene testing increased the diagnostic rate of FH by 53.3%, 33.3% and 42.1% respectively.Conclusion:Gene testing is helpful to improve the diagnosis of FH, and it is important to start the standard treatment of FH as early as possible in patients with premature myocardial infarction.

Objective:To investigate the effect of lycopene on blood-brain barrier and nerve damage in rats with cerebral small vessel disease(CSVD)by regulating Janus kinase 2(JAK2)/signal transducer and activator of transcription 3(STAT3)/vascular endo-thelial growth factor(VEGF)signaling pathway.Methods:Fifty CSVD rat models were prepared by in vitro injection of the same germ-line microemboli,and were randomly grouped into model group,low-dose lycopene(65 mg/kg)group,high-dose lycopene(85 mg/kg)group,AG490(JAK2 inhibitor,3.5 mg/kg)group,and high-dose lycopene(85 mg/kg)+AG490(3.5 mg/kg)group,with 10 cases in each group,another 10 SD rats were regarded as sham operation group.After grouping with lycopene and AG490,cognitive ability of rats was detected by Morris water maze test and dark avoidance test;permeability of blood-brain barrier in rats was detected by Evans blue method;the number of rat hippocampal neurons was detected by Nissl staining;levels of inflammatory factors prostaglandin E2(PGE2),tumor necrosis factor-α(TNF-α),and oxidative stress factors catalase(CAT),superoxide dismutase(SOD),malondialde-hyde(MDA)in rats brain tissue were detected by kits;expressions of matrix metalloproteinase(MMP)2,MMP9,tight junction-related proteins(ZO-1,Occludin)and JAK2/STAT3/VEGF pathway-related proteins in rats brain were detected by Western blotting.Results:Compared with sham operation group,the times of rats crossing the platform,the time of staying in the target quadrant,step through latency,the number of hippocampal neurons,levels of CAT and SOD in brain tissue,protein expressions of ZO-1,Occludin and VEGF,and p-JAK2/JAK2,p-STAT3/STAT3 were obviously decreased in model group(P<0.05),while the error times,Evans blue content,levels of brain tissue PGE2,TNF-α and MDA,and protein expressions of MMP2 and MMP9 were obviously increased(P<0.05).Compared with model group,the times of rats crossing the platform,the time of staying in the target quadrant,step through la-tency,the number of hippocampal neurons,levels of CAT and SOD in brain tissue,protein expressions of ZO-1,Occludin and VEGF,and p-JAK2/JAK2,p-STAT3/STAT3 were all increased in low-dose lycopene group and high-dose lycopene group(P<0.05),while the error times,Evans blue content,levels of brain tissue PGE2,TNF-α and MDA,and protein expressions of MMP2 and MMP9 were all decreased(P<0.05),and high dose lycopene was more effective;the change trend of each index in AG490 group was opposite to that in lycopene groups,and AG490 could reverse the effect of lycopene.Conclusion:Lycopene can inhibit inflammation and oxidative stress in CSVD rats by activating JAK2/STAT3/VEGF signaling pathway,thereby reducing the blood-brain barrier and nerve damage,and improving their cognitive ability.

Objective To investigate the impact of usnic acid on neuronal necroptosis in rats with cerebral infarction by regulating the receptor-interacting protein kinase 1(RIPK1)/receptor-interacting protein kinase 3(RIPK3)/mixed lineage kinase domain-like protein(MLKL)signaling pathway.Methods The rat model of cerebral infarction was established by middle cerebral artery occlusion and reperfusion(MCAO/R).The successfully modeled rats were divided into model group,NEC-1(RIP1 inhibitor)group,low-,medium-,and high-dose of usnic acid groups,with 20 rats in each group.Another 20 rats were selected as a sham-operation group.After 3 days of drug intervention,the modified Neurological Severity Scale(mNSS)was applied to evaluate the degree of neurological damage of rats in each group.TTC staining was applied to detect the volume of cerebral infarction.HE staining was selected to observe pathological damage in brain tissue.PI/NeuN staining was selected to observe neuronal necrosis.RT-qPCR was used to detect mRNA levels of RIPK1,RIPK3 and MLKL in rat ischemic brain tissue.Western Blot was used to determine the expressions of RIPK1/RIPK3/MLKL signaling pathway related proteins in rat ischemic brain tissue.Results Compared with the sham-operation group,the neural cells in the model group showed structural damage,cell disrupted,deformation,and nuclear pyknosis,furthermore,the mNSS score,the cerebral infarction volume,proportion of PI-positive neurons were significantly increased(P＜0.05).The mRNA levels of RIPK1,RIPK3,MLKL in brain tissue,ratio of p-RIPK1/RIPK1,and the levels of RIPK3 and MLKL proteins were obviously increased(P＜0.05).Compared with the model group,the damage degree of neurocyte morphology in the low-,medium-,and high-dose of usnic acid groups was gradually alleviated,the nuclear membrane was gradually became clear,and the cell body was gradually returned to normal.The neurocyte morphology in the NEC-1 group was basically intact,and the nuclear membrane was basically clear.The mNSS score,cerebral infarction volume and proportion of PI-positive neurons in NEC-1 group and usnic acid groups were significantly decreased(P＜0.05).The mRNA levels of RIPK1,RIPK3,MLKL,ratio of p-RIPK1/RIPK1,and levels of RIPK3 and MLKL proteins in brain tissue were obviously reduced in usnic acid groups and NEC-1 group.Also,there was dose-dependent decrease in usnic acid groups(P＜0.05).No statistically obvious difference was found between the high-dose usnic acid group and the NEC-1 group(P＞0.05).Conclusion Usnic acid inhibits neuronal necroptosis in rats with cerebral infarction by inhibiting the RIPK1/RIPK3/MLKL signaling pathway,thereby alleviating brain injury in rats with cerebral infarction.

Objective: Based on scores by number of vessels diseased and age (NVDA), the minimum lumen area (MLA) of left anterior descending (LAD) proximal or middle intermediate lesions were examined by intravascular ultrasound (IVUS) to analyze the clinical characteristics, to ifnd the factors affecting lumen area and to establish a scoring system for predicting MLA in relevant patients.
Methods: A total of 90 patients were enrolled including 58 male and 32 female with the age of (41-77) years. The demographic information, medical history and laboratory results were studied by simple linear regression analysis to screen relevant factors affecting MLA; multi regression analysis was conducted to establish a regression equation for predicting MLA and to calculate the risk factor coefifcient for obtaining relevant scoring system.
Results: NVDA score≤4 was deifned as negative result with speculated MLA≥3.0mm2, while NVDA score>4 was deifned as positive result with speculated MLA<3.0mm2. The sensitivity, speciifcity and negative predictive value of NVDA scoring system for predicting MLA were 83.35%, 75% and 90% respectively.
Conclusion: NVDA scoring system had the better accuracy, sensitivity and speciifcity for predicting MLA in coronary artery intermediate lesions, it had certain value for guiding coronary interventional therapy in relevant patients.

Objective To investigate the safety and short-term outcome of rotational atherectomy followed by drug-eluting stenting in heavily calcified coronary long lesions. Methods From Jan 1, 2011 to May 31, 2016, 109 cases with 114 heavily calcified coronary lesions which were treated with rotational atherectomy followed by drug-eluting stenting in Peking University People's Hospital were included. They were divided into diffuse lesion group ( lesion ≥25 mm, 68 cases, 72 lesions ) and focal lesion group (lesion ﹤25 mm,41 cases, 42 lesions). All patients were followed up in hospital. Procedure parameters, procedural complications ( dissection, perforation, slow flow/no flow and procedural related myocardial infarction),procedural success and major adverse cardiovascular events (cardiac death, non-fatal myocardial infarction and stent thrombosis) were analyzed. Results The procedural success rate was 98. 5%(67/68) in diffuse lesion group and 100% ( 41/41 ) in focal lesion group ( P=0. 453 ) . Complication rates did not differ between the two groups (41. 2% and 34. 1%, P=0. 673). Major adverse cardiovascular events rates were 41. 2% and 31. 7%, P =0. 484. Conclusions Treating coronary lesions ≥25 mm in length with rotational atherectomy followed by drug-eluting stenting does not impact the short-term outcome when treating carefully and correctly . Procedural success rate and in-hospital outcome is satisfactory.

Objective To study the effect of tubular stomach reconstruction on respiratory function and serum vascular endothelial growth factor(VEGF) level in patients with esophageal cancer.Methods 84 patients with esophagealcancer were randomIy divided into two groups.42 patients in the observation group were operated through tubular stomach reconstruction,while 42 patients in the control group were operated through full stomach and esophagus reconstruction of digestive tract.The respiratory function and serum VEGF were detected in all patients.Results The respiratory function was significantly declined after operation compared with before operation (P ＜ 0.05).The respiratory function was significantly improved postoperative two months compared with before operation (P ＜ 0.05,P ＜0.01),there was a significant difference between the two groups (P ＜ 0.05).Serum VEGF level was significantly decreased after operation in both two groups (P ＜ 0.0 1).Serum VEGF level of the observation group was significantly lower than that of the control group (P ＜ 0.05).Conclusion Tubular stomach reconstruction can improve respiratory function and prognosis of patients with esophageal cancer.

Objective To investigate the relationship between the Minimum Lumen Area (MLA) and plaque burden(PB) of the left circumlfex (LCX) ostial and the occurrence of myocardial ischemia after a single stent crossover for the treatment of left main (LM) bifurcated lesions. Methods Intravascular ultrasound (IVUS) assessment was performed on 5 patients, each where coronary angiography showed left main bifurcated lesions, and to measure the MLA and PB of the LCX. Following a single stent crossover fractional lfow reserve (FFR) evaluation were performed in all 5 patients to investigate the relationship between the MLA and PB of the LCX ostium and the occurrence of myocardial ischemia. Results The mean MLA of the left main coronary of the 5 patients was (4.99±2.3) mm2 with the minimum lumen diameter (MLD) being (2.26±2.8) mm. The average MLA of the left anterior descending (LAD) ostial or proximal was (4.01±2.0) mm2, mean plaque burden (PB) at the LAD ostial or proximal was (68.15±10.1)%. Average MLA of LCX was (4.94±0.4) mm2 with a plaque burden of (66.00±6.0)%. Single stent crossover technique was used to treat the bifurcated lesions. Among the 5 patients, only 1 of them was treated with a double stent deployment where the LCX ostial FFR was<0.75 (FFR=0.42). The remaining 4 patients showed LCX ostial FFR of>0.75. Conclusions Integrated IVUS and FFR would achieve threshold measurements of MLA at LCX’s ostium which could predict ischemia after one stent strategy.

0.05).Conclusion 64-slice CT provided a high diagnostic accuracy in assessing coronary artery stenosis.