Objective To observe the parameters of echocardiography in persistent pulmonary hypertension of the newborn(PPHN),and to discuss the influence of persistent pulmonary hypertension on cardiac geometry and left ventricul ar function.Methods 25 cases with PPHN were selected,including 11 mild,9 moderate,and 5 severe cases.Another 23 cases of neonatal jaundice were selected as control group.The left atrium diameter(LAD),left ventricular end diastolic diameter (LVDd),right ventricular end diastolic diameter (RVDd),right atrium diameter (RAD),left ventricular posterior wall thickness (LVPW),interventricular septum thickness (IVS) were measured by echocardiography.The results of echocardiography were analyzed.Results Compared with the control group,the RVDd and RAD of PPHN group were significantly increased,RVDd and RAD dilated with the increasing of pulmonary artery systolic pressure in PPHN group (t =2.53,7.09,2.14,4.77,2.88,2.04,4.59,7.12,2.34,5.12,3.07,all P ＜0.05) ;LVDd decreased in severe group (14.80 ±2.16) mm compared with that in the control group (15.26 ±1.83) mm,mild (16.55 ± 1.50) mm and moderate group (15.67 ± 1.87) mm(t =3.76,4.80,3.74,all P ＜ 0.05).Conclusion Echocardiography is one of the most important method to diagnose PPHN,and can be observed in newborns with non-invasive cardiac changes directly.lt has important value in judgement of severity degree,and provide a reliable basis for clinical diagnosis and treatment.

Objective To explore the method for early diagnosis of masked polycythemia vera (mPV) by comparing and analyzing the features of mPV and polycythemia vera (PV). Methods A total of 200 newly diagnosed male patients were collected based on diagnostic criteria, including 100 cases of PV and 100 cases of mPV. Erythropoietin (EPO), neutrophil alkaline phosphatase (NAP) score, bone marrow biopsy (BMB), and JAK2 V617F mutation were evaluated in all cases. After 6 months, hemoglobin (Hb) and JAK2 V617F mutation load were detected in patients without special treatment in two groups during follow-up. Results EPO, NAP score, BMB hematopoietic volume and the number of megakaryocyte had no statistical differences between PV group and mPV group [(3.4 ± 0.7) U/ml vs. (3.2±0.6) U/ml, (276±20) score vs. (278±21) score, (78±10) % vs. (76±9) %, (53±6) vs. (51±5), respectively], while JAK2 V617F mutation load in PV group was higher than that in mPV group[(89.2±9.4) % vs. (78.1±8.6) %, P<0.05]. In mPV patients without special treatment, Hb ≥185 g/L was found in 37 patients after 6 months, and the level of Hb and JAK2 V617F mutation load in these 37 patients reached (194±8) g/L and (90.7±9.1) %, respectively. Conclusions There is no significant difference in EPO, NAP score and BMB between PV and mPV, but the JAK2 V617F mutation load is different. In mPV patients without special treatment, Hb level can reach the typical PV diagnostic criteria after 6 months, meanwhile, JAK2 V617F mutation load is also increased.

Objective To report the clinical and peripheral neuropathological findings in two patients with autosomal recessive Charcot-Marie-Tooth disease 2K(AR-CMT2K).Methods Case one was a nine year-old girl.She had distal weakness of lower limbs for six years, with calf atrophy and contracture of Achilles tendon for three years.Case two was an eight year-old boy.He had distal weakness of lower limbs with contracture of Achilles tendon and calf muscle atrophy for three years, and proximal weakness of low limbs for two years.The motor nerve conduction velocities in median nerves were 48.1 m/s in case one and 47.6 m/s in case two.The compound motor action potential amplitude of median nerves decreased by 46% in case one and 69% in case two.Sural nerve biopsies and gene targeted next-generation sequencing were performed in both patients.Results Density of myelinated fibers was 8 407/mm2 in case one and 7 714/mm2 in case two.The ratio of myelinated fibers with diameter over 8 μm was 2.6% in case one and 0 in case two.Both patients had small regenerating cluster of myelinated fibers.Thin myelinated fibers appeared in case one.In case two, atypical onion bulb formations with focal folded myelin appeared, and electromicroscopy revealed mitochondrial aggregate in axons.Compound heterozygous mutations of ganglioside-induced differentiation associated protein 1 gene were detected in both patients, including c.767A>G(p.H256R) and c.466G>A (p.A156T) in case one and c.767A>G and 845G>A(p.R282H) in case two.Conclusions Contracture of Achilles tendon may appear in early childhood of AR-CMT2K patients.The main pathological changes in sural nerve are loss of large myelinated fibers, mitochondrial aggregate in axons and myelin abnormalities.

Objective To investigate the abnormal brain activity of first-episode depression by rest-ing state functional magnetic resonance imaging ( fMRI) .Methods Twenty-one adolescent participants diag-nosed with depression(AD) and 18 healthy controls ( HC) were recruited.Resting state fMRI brain scans were performed on all participants.Regional homogeneity ( ReHo) approach was applied to preprocess the fMRI datasets.The value of ReHo maps were obtained in the whole brain.Results ReHo values in the AD group were higher than those in the healthy controls in the right inferior temporal gyrus ( MINI:66,-24,-20) ,left upper cingulate cortex (-27,47,-6) ,frontal polar (-24,59,14) ,after upper left cingulate cortex (-1,-16,35),after the bottom left cingulate cortex (-2,-38,32),left praecuneus (-1,-48,65) com-pared with that in the healthy controls (P<0.05) .ReHo in the AD group decreased in the right middle tempo-ral gyrus (45,-34,32) compared with that in the healthy controls (P<0.05).Conclusion Extensive ReHo abnormalities were found in the brains of patients with first-episode,drug-naive depression,and these abnor-malities in spontaneous neural activity may contribute to the neuropathology of adolescent depression.

Objectives To study the risk factors for influencing recrudescence after endovascular embolization of intracranial aneurysms and to establish a regression model to predict the risk of recrudescence in patients with specific intracranial aneurysm after endovascular embolization. Methods From May 2012 to May 2014,429 patients (a total of 441 aneurysms)with intracranial saccular aneurysm who met the inclusion criteria and treated with endovascular embolization at the Cerebrovascular Treatment Center, Changhai Hospital,the Second Military Medical University were analyzed retrospectively. Multiple aneurysms were calculated separately according to per aneurysm. The aneurysms were divided into either a recurrent group (n = 66)or an unrecurrent group (n = 375)according to whether they had recrudescence or not. The differences of 11 factors such as clinical features,treatment technology and materials,and aneurysm anatomy of both groups were compared. Logistic regression was used to analyze the risk factors for recrudescence after endovascular embolization of intracranial aneurysms,and its effectiveness of predicting recrudescence was evaluated. Results There were significant differences in the size of aneurysms (χ2 = 46. 352,P <0. 01),rupture or not (χ2 = 4. 198,P = 0. 040),using stents or not (χ2 = 9. 554,P = 0. 002),and results of immediate postoperative embolization (χ2 = 10. 397,P = 0. 003). The results of multivariate logistic regression analysis showed that non-stent-assisted embolization (OR,4. 076,95% CI 2. 147 -7. 736,P <0. 01),Raymond grade Ⅱ (OR,4. 222,95% CI 1. 537 -11. 579,P = 0. 005),Raymond grade Ⅲ (OR, 4. 467,95% CI 1. 600 -12. 470,P =0. 004),large aneurysms (> 10 -25 mm)(OR,4. 914,95% CI 2. 277 -10. 604,P < 0. 01),and giant aneurysms (> 25 mm)(OR,35. 743,95% CI 3. 511 -363. 837,P = 0. 003) were the risk factors for recrudescence after aneurysm embolization. The effective test results of the regression model in predicting recrudescence showed that the area under the curve of the recrudescence predicting model was 73. 5% . Raymond grade was 56. 6%,and the non -stent embolization was 60. 1%,and the size of aneurysms was 40. 3% . Z test was used to calculate the differences of recurrent scores and non-stent embolization,Raymond grade,the area under ROC curve of aneurysm size. The Z values were 2. 662, 3. 513,and 6. 308,respectively,and the P values were 0. 007,0. 004,and 0. 001,respectively. Conclusions Large or giant aneurysms,non - stent - assisted embolization,incomplete embolization immediately after procedure were associated with the recrudescence after endovascular embolization of intracranial aneurysms. The established regression model may reflect the size of the recurrent risk.

Objective To evaluate effects of Lycium barbarum polysaccharide (LBP) on expression of vascular endothelial growth factor (VEGF) and hypoxia inducible factor-1α (HIF-1α) in ultraviolet B (UVB)-radiated HaCaT cells.Methods Conventionally cultured HaCaT cells were divided into control group and LBP groups,which were firstly treated with DMEM,12.5,25.0,50.0 and 100 μg/ml LBP solution respectively for 4 hours,and then were irradiated by UVB at different intensity of 0,20,40,60 mJ/cm2 separately.After 24-hour continuing culture,CCK-8 assay was performed to determine the cell survival rate,and an enzymatic-biochemical method to estimate the activity of superoxide dismutase (SOD).RT-PCR and Western blot analysis were conducted to measure the mRNA and protein expression of HIF-1α and VEGF respectively.Results Compared with the control group at the same UVB radiation dose,the 12.5-,25.0-and 100.0-μ,g/ml LBP groups showed different extents of increase in survival rates of UVB-radiated cells (P ＜ 0.05),and the 50.0-μg/ml LBP group showed the highest cell survival rate (P ＜ 0.01).Among all the LBP groups,SOD activity was highest in the 50.0-μg/ml LBP group (P ＜ 0.01).Along with the increase of UVB radiation dose,the mRNA and protein expression of HIF-1α and VEGF all gradually increased.Compared with the control group,the 50.0-μg/ml LBP group could effectively reduce the mRNA and protein expression of HIF-1α and VEGF in HaCaT cells (all P ＜ 0.05).Conclusion LBP may play a role in protecting cells from UVB radiation-mediated damage,likely by influencing the mRNA and protein expression of HIF-1α and VEGF in HaCaT cells.

Objective To analyze the differences of the clinical and neuropathological features among the common Charcot-Marie-Tooth disease (CMT) subtypes.Methods There were 81 CMT patients confirmed by genetic testing from 2005 to 2015 in Department of Neurology,Peking University First Hospital,including 31 cases of CMT1A (38.3％),19 cases of CMTX1 (23.5％),16 cases of CMT2A2 (19.8％) and 15 cases of 9 rare types of CMT (1.2％-4.9％).We compared the onset age,duration,muscles weakness of legs,frequency of pes cavus,and main pathological changes of the sural nerve biopsy in 48 cases of the common CMT subtypes.Results The mean age of the onset was (12.00 ± 6.77) years in CMT1A patients,(11.81 ±4.65) years in CMTX1 patients and (5.00 ±2.68) years in CMT2A2 patients (Brown-Forsythe test,P =0.001).The duration was (12.00 ± 6.75) years in CMT1A patients,(8.50 ± 4.75) years in CMTX1 patients and (5.00 ± 2.73) years in CMT2A2 patients (Brown-Forsythe test,P =0.001).The muscle force of the dorsi flexors was Ⅳ (0,Ⅴ) in CMT1A patients,Ⅲ + (0,Ⅳ) in CMTX1 patients and 0 (0,Ⅳ) in CMT2A2 patients (H =11.359,P =0.020).The pes cavus appeared in 15/23 cases of CMT1A,10/16 cases of CMTX1 and 1/9 cases of CMT2A2 (Fisher test,P=0.017).The leukoencephalopathy appeared only in 3 cases of CMTX1 and the visual loss appeared only in 3 cases of CMT2A2.The onion-bulb formations of myelinated fibers appeared in 23/23 cases of CMT1 A,5/16 cases of CMTX1 and 2/9 cases of CMT2A2(Fisher test,P =0.000).The axonal regeneration appeared in 16/23 cases of CMT1A,16/16 cases of CMTX1 and 9/9 cases of CMT2A2 (x2 =7.666,P =0.016).There were significant differences among the three common CMT subtypes in the above parameters.Conclusions CMT1A,CMT2A2 and CMTX1 are the most common subtypes of CMT in the present study.For the clinical diagnosis,more attention should be paid to the onset of the disease,duration,muscles weakness,pes cavus,cerebral symptoms and visual loss.The present frequency of onion-bulb and the axonal regeneration of myelinated fibers help the different pathological diagnosis among them.

Objective To study the correlation between 5-serotonin transporter ( 5-HTT) gene pol-ymorphism and the first episode major depressive disorder ( MDD ) and cognitive function in adolescent. Methods 5-HTT genotype and allele were detected by polymerase chain reaction ( PCR) amplification of 76 patients with first episode of MDD and 73 normal controls. Case control method was used to analyze the correlation between different genotypes and the onset, the clinical features, and cognitive function. Result-s There was no significant difference between 5-HTTLPR genotype frequencies for the 41 cases of type S/S (53.9%),27 cases of type L/S(35.5%),8 cases of type L/L(10.5%)of case group and 5-HTTLPR geno-type frequencies for the 38 cases of type S/S(52.1%),18 cases of type L/S(24.7%),17 cases of type L/L (23.3%) of control group(P>0.05).Patients with S/S type,L/S type had significantly higher sleep scores than those of patients with type L/L(P=0.005,P=0.001). Agitation score in patients with S/S type group was significantly higher than that in patients with S/L,L/L(P=0.000,P=0.001);patients with S/S inferior-ity scores were significantly lower than those of patients with S/L,L/L(P=0.002,P=0.006). There was no significant difference in cognitive function among three groups. Conclusions In Chinese Han population, there may be no direct association between 5-HTTLPR gene polymorphism and susceptibility to MDD and its cognitive function in adolescents. S/S and L/S patients may be prone to sleep problems,type S/S patients may be prone to irritability and type L/L patients may be prone to inferiority.

Objective To summarize the clinical features of Chinese patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes ( MELAS).Methods A total of 190 patients with MELAS who presented to Peking University First Hospital between 1997 and 2015 were recruited.Among 190 patients, 175 were identified carrying mitochondrial DNA mutations, and the remaining 15 patients were diagnosed by muscle biopsy.The clinical features, including predisposing factors of stroke-like episodes, the onset symptoms and frequencies of various manifestations were analyzed and reported.Results In our cohort of MELAS patients, the male-to-female ratio was 1.44∶1.The median age of onset was 14 years ( from 7 months to 45 years).The peak onset ages were 8-12 years.The median onset age of the first stroke-like episode was 16 years ( from 1 to 53 years ).There were 66 ( 46.15%) patients who had predisposing factors before the onset, and fatigue and upper respiratory tract infection were the most common predisposing factors of stroke-like episodes in these patients ( 37.88%, 25/66 and 34.85%, 23/66, respectively).Other predisposing factors included emotional agitation, drinking alcohol, trauma, withdrawal of antiepileptic drugs, being frightened, satiation and hunger.Stroke-like episodes appeared in 70.53%(134/190) patients as an onset symptom and developed in all patients with disease progression.The neurological manifestations included seizure ( 89.42%, 169/189 ) , mental retardation or dementia (82.87%, 150/181), headache (74.30%, 133/179), hemianopia or cortical blindness (67.72%, 107/158), exercise intolerance (50.87%, 88/173), hemiplegia or hemianesthesia (47.44%, 74/156), sensorineural deafness (46.20%, 85/184), aphasia (39.47%, 60/152), behaviour disorder (17.71%, 31/175) and ophthalmoplegia ( 9.60%, 17/177 ).The manifestations of extra-nervous systems included hirsutism (67.57%, 100/148), vomiting (65.58%, 101/154), fever (62.07%, 90/145), short stature (45.32%, 63/139), diarrhea or constipation (43.48%, 70/161), low body mass index (26.62%, 37/139), diabetes mellitus (20.79%, 37/178) and kidney disease (3.16%, 6/190).Conclusions The majority of the patients in this study have the disease onset during childhood.There are more male MELAS patients than females.Most common clinical manifestations are seizure, mental retardation or dementia, headache, cortical blindness, hirsutism, vomiting and fever in this patient group.

OBJECTIVE:To establish a method for simultaneous determination of tanshinol,caffeic acid,rosmarinic,salviano-lic acid B,salvianolic acid A,tanshinoneⅠ,cryptotanshinone,tanshinone ⅡA and ursolic acid in Compound xueshuantong cap-sules. METHODS:UPLC-MS/MS method was adopted. The determination was performed on ACQUITY UPLC? BEH C18 column with mobile phase consisted of acetonitrile-0.1%formic acid(gradient elution)at the flow rate of 0.2 mL/min. The column tempera-ture was 40 ℃,and the temperature of injector was 10 ℃. Analysis time was 7 min,and sample size was 5 μL. The electrospray ionization source(ESI)was used;ion source temperature was 150℃;capillary voltage was 3.5 kV;cone flow was 50 L/h;desol-vation temperature was 350 ℃;desolvation gas flow was 650 L/h;nebuliser pressure was 7 × 105 Pa;ion monitoring and multiple reaction monitoring (MRM) was performed. RESULTS:The linear ranges of tanshinol,caffeic acid,rosmarinic,salvianolic acid B,salvianolic acid A,tanshinoneⅠ,cryptotanshinone,tanshinone ⅡA and ursolic acid were 10.0-100.0 μg/mL (r=0.9998), 0.1-1.0 μg/mL(r=0.9998),4.0-40.0 μg/mL(r=0.9999),10.0-100.0 μg/mL(r=0.9999),15.0-150.0 μg/mL(r=0.9997), 8.0-80.0 μg/mL(r=0.9998),10.0-100.0 μg/mL(r=0.9997),50.0-500.0 μg/mL(r=0.9997)and 6.0-60.0 μg/mL(r=0.9998), respectively. The limits of quantitation were 40.0,9.6,38.0,88.0,130.0,39.0,4.4,3.2 and 10.0 ng/mL,separately. The limits of detection were 12.0,3.0,11.0,26.0,39.0,12.0,1.3,1.0 and 3.0 ng/mL,respectively. RSDs of precision,stability and repro-ducibility tests were all lower than 3%. The recoveries were 97.34%-103.20%(RSD=2.19%,n=6),97.22%-102.39%(RSD=2.03%,n=6),98.51%-101.70%(RSD=1.32%,n=6),97.86%-102.49%(RSD=2.09%,n=6),96.75%-103.12%(RSD=2.36%,n=6),98.43%-101.65%(RSD=1.25%,n=6), 97.59%-101.50%(RSD=1.50%,n=6), 96.45%-102.88%(RSD=2.58%,n=6),97.02%-103.11%(RSD=2.38%,n=6),separately. CONCLUSIONS:The method is simple and accurate,and can be used for simultaneous determination of 9 components in Compound xueshuantong capsules.