Objective To investigate the clinical features and gene mutation of a newborn with neonatal-onset ornithine transcarbamylase deficiency (OTCD) and report the multidisciplinary perinatal management of the mother with late-onset OTCD.Methods The clinical features,biochemical data and the treatment of a newborn boy with OTCD and his mother admitted by Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine in April,2013,were collected.The ornithine transcarbamylase (OTC) gene in the family was analyzed.Results Serum ammonium in the male newborn gradually increased to 1 020 μ mol/L at 48 h after birth.His blood amino acids level and urine organic acid level showed a pattern indicative of OTCD [blood arginine (97.43 μ mol/L,reference 1.00-25.00 μ mol/L),citrulline (27.43 μ mol/L,reference 4.00-30.00 μ mol/L),ornithine (161.66 μ mol/L,reference 10.00-120.00 μ mol/L) and methionine (70.45 μ mol/L,reference 10.00-50.00 μ mol/L); urine uracil (67.11 μ mol/mol Crea,reference 0.00-7.00 μ mol/mol Crea) and orotic acid (1 372.66 μ mol/mol Crea,reference 0.00-1.50 μ mol/mol Crea)].DNA studies revealed a c.583G ＞ A (G195R) homozygous mutation of the OTC gene.His mother was heterozygous for OTCD and developed acute hyperammonemia during pregnancy.Her blood showed a normal-leveled arginine (8.44 μ mol/L,reference 1.50-25.00 μ mol/L),a normal-leveled citrulline(8.41 μ mol/L,reference 7.00-35.00 μ mol/L),an elevated glutamate(279.15 μ mol/L,reference 45.00-200.00 μ mol/L).Her urine uracil (51.55 μ mol/mol Crea,reference 0.00-7.00 μ mol/mol Crea) and orotic acid (38.75 μ mol/mol Crea,reference 0.00-1.50 μ mol/mol) were elevated.Successful management of her prenatal and postpartum blood ammonia level was achieved after administration of pharmacologic nitrogen scavengers and protein limitation.DNA studies revealed a c.583G ＞ A (G195R) heterozygous mutation in the newborn's mother and grandmother.Conclusions General management on pregnant OTCD women is effective.Male newborn patients often have a poor prognosis.

Objective To compare the differences between the schizophrenics with negative and positive symptoms on prefrontal lobe and thalamus by proton magnetic resonance spectroscopy ( 1 H-MRS). Methods 58 negative subtype and 51 positive subtype schizophrenics were examined at prefrontal lobe and thalamus by multivoxel 1H-MRS before antipsychotic treatment The N-acetylaspartate (NAA), choline-containing compounds ( Cho), and creatine compounds (Cr) were measured and the ratios of NAA/Cr, Cho/Cr were determined. Results On right thalamus,the NAA/Cr ratio in negative subtype patients ( 1.40 ± 0.29 ) demonstrated lower than that in positive subtype ( 1.62 ± 0.33 ), the same phenomenon were appeared on male, female, non-first-episode, with-medicine and without-medicine patients (P ＜ 0.05 or 0.01 ). The Cho/Cr ratio on right thalamus in negative subtype of female,non-first-episode,without-medicine schizophrenics were lower than those in positive subtype (P ＜ 0.05 ).On left prefrontal lobe,left thalamus and right thalamus, the NAA/Cr ratios both in negative subtype and positive subtype schizophrenics were significantly negatively related with age of onset(P＜0. 05 or 0.01 ). In negative subtype schizophrenics,the Cho/Cr ratio on right thalamus was positively related with age of onset ( r = 0. 25, P ＜0.05 ). In negative subtype schizophrenics of non-first-episode, without-medicine, the correlation was negative between the NAA/Cr ratio and the course of disease( r= -0.48, -0.46, P＜0.05 ) ,and was positive between Cho/Cr ratio and the course of disease on right thalamus( r= 0.58,0.56, P＜ 0.01 ). Conlusion Compared with positive subtype schizophrenics,negative subtype schizophrenics have greater impairments on 1 H-MRS on right thalamus. The course of disease has greater effects on 1 H-MRS in negative subtype schizophrenics.

Objective To compare various CT signs of pancreatic carcinoma (PC) and inflammatory pancreatic mass (IPM), and to study the diagnostic value of these signs for distinguishing two diseases. Methods Eigty-five patients with PC and IPM were proved by surgery, fine needle aspiration or other comprehensive methods. These patients underwent non-enhanced and enhanced CT scans. CT findings were analyzed retrospectively. The occurrance rates of various CT signs in these two diseases were analyzed with Fisher test and were compared with the corresponding clinical and operational results as welL Results Among the 85 patients, 66 patients were proved to have PC, and 19 were proved to have IPM. In PC group,58 were corerectly diagnosed with CT, 3 (4. 5% ) were misdiagnosed, and 5 (7.6%) were omitted. In IPM group, 9 were correctly diagnosed with CT and 10 (52. 6% ) were misdiagnosed. The CT findings were as follows: (1) Pancreatic mass with liver metastases, lymph node metastases, encased celiac arteries, and cancer emboli in portal veins just occurred in PC group. (2) The occurrence rates of mass over 3 cm in diameter, clear boundary, low-density area within the mass, pseudocysts, peripancreatie infiltration, ascites, and slight and moderate pancreatic-bile duct dilation in PC group were 90. 91% (60/66), 15.15% ( 10/66), 54. 55% ( 36/66 ), 10. 61% ( 7/66 ), 4. 55% ( 3/66 ), 22. 73% ( 15/66 ), 24. 24% ( 16/66 ), 45.45% (30/66), and 27. 27% (18/66) respectively, the occurrence rates in IPM group were 94. 74% ( 18/19), 15.79% ( 3/19 ), 52. 63% ( 10/19 ), 15.79% ( 3/19 ), 15. 79% ( 3/19 ), 21.05% (4/19), 31.58% (6/19) ,21.05% (4/19), and 5.26% (1/19) respectively. There was no statistical difference for these CT findings between two groups(P >0. 05). (3) Pancreatic head mass with atrophy of pancreatic body and tail, mass calcification, pancreatic duct-penetrating sign, pancreatic head mass with hypertrophy of pancreatic body and tail, biliary stones with inflammation , and thickening of pre-kidney fascia in PC group were 48.48% ( 32/66 ), 3.03% ( 2/66 ), 1.52% ( 1/66 ), 10. 61% ( 7/66 ), 6. 06% ( 4/66 ) and 3.03% (2/66) respectively, the occurrence rates of those in IPM group were 5. 26% (1/19),47.37% (9/19), 15.79% ( 3/19 ), 84. 21% ( 16/19 ), 36. 84% ( 7/19 ) and 21.05% ( 4/19 ) respectively. There was statistical difference for these CT findings between two groups ( P < 0. 05 ) . Conclusion Accurate evaluation of various CT signs in PC and IPM is of great importance in the diagnosis of the two diseases.

ObjectivesTo explore the characteristic of different subtypes of depression on prefrontal lobe and hippocampus by proton magnetic resonance spectroscopy (1H-MRS),and its relationship.Methods 46 patients of depression,which were met with the third edition of the Chinese Classification of Mental Disorders (CC-MD-Ⅲ ) since December 2010 to March 2012 from Mental Diseases Prevention and Treatment Institute,were examined at prefrontal lobe and hippocampus by multi-voxel 1 H-MRS.They were divided into male ( n =25) and female ( n =21 ),early-onset subtype ( n =26) and late-onset subtype ( n =20 ),short-duration of illness ( n =23 )and long-duration of illness ( n =23 ) by different criteria.The N-acetylaspartate ( NAA),Choline-congtaining compounds (Cho),and Creatine compounds (Cr) were measured and the ratios of NAA/Cr,Cho/Cr were determined.ResultsOn left prefrontal lobe,the NAA/Cr ratios in patients of male ( 1.83 ± 0.19),late-onset subtype (1.86 ±0.16),and short-duration of illness ( 1.83 ±0.17) showed higher than those in female ( 1.70 ±0.12,t=2.711,P ＜ 0.01 ),early-onset subtype ( 1.70 ± 0.19,t =3.028,P ＜ 0.01 ),and long-duration of illness ( 1.71±0.20,t =2.192,P＜0.05).Both on left prefrontal and on left thalamus,the ratios of NAA/Cr were positively correlated with the age of onset ( r=0.493 and 0.478,P＜0.01 ),and were negatively correlated with the duration of illness ( r =- 0.482 and - 0.470,P ＜ 0.01 ).ConclusionsDifferent subtypes of depression maybe have different characteristics of 1H-MRS due to the age of onset and the duration of illness.

Objective To identify the metabolite levels and to study the potential effects of risporidone tablets on prefrontal lobe and thalamus in male first-episode schizophrenia by proton magnetic resonance spectroscopy (1H-MRS).Methods Twenty-two male first-episode schizophrenics were examined at prefrontal lobe and thalamus by multi-voxel 1H-MRS before and after 8 weeks' risperidone tablets treatment,and 30 normal controls were assessed once.The patients were also received positive and negative syndrome scale(PANSS) and Wisconsin card sorting test (WCST) before and after treatment.The N-aeetylaspartate ( NAA ),Choline-congtaining compounds (Cho),and Creatine compounds (Cr) were measured and the ratios of NAA/Cr,Cho/Cr were determined.Results On left prefrontal lobe and left thalamus,the NAA/Cr ratio in patients before treatment demonstrated lower than those in normal controls ( ( 1.37 ± 0.33 ) vs ( 1.61 ± 0.38 ),t =2.57,P ＜ 0.05 ; ( 1.46 ± 0.35 ) vs ( 1.71 ± 0.38 ),t =2.36,P ＜ 0.05 ).There were no significant differences in both the ratios of NAA/Cr and Cho/Cr between pre- and post-treatment (P＞0.05 ).The changes of NAA/Cr on left prefrontal lobe post-treatment were negatively related with the alterations of the total score of PANSS ( r =- 0.46,P ＜ 0.05 ),the score of negative symptoms ( r =- 0.48,P ＜ 0.05 ),the responses errors ( r =- 0.42,P ＜ 0.05 ) and the porseverative errors ( r =- 0.40,P ＜ 0.05 ),meanwhile,positively related with the alterations of the categories completed ( r =0.44,P ＜0.05 ) and the conceptual level responses ( r =0.42,P ＜ 0.05 ).Conclusions Abnormalities in neuronal function and/or integrity presented on prefrontal lobe and thalamus maybe exist in male first-episode schizophrenics.Short-term antipsvchotic treatment with risperidone tablets may have no effects on measures of prefrontal lobe and thalamus.

ObjectiveTo explore the metabolite status on prefrontal lobe and thalamus by proton magnetic resonance spectroscopy (1H-MRS) and affecting factors in patients of schizophrenia.Methods 159 schizophrenics met with CCMD-3 and 45 normal controls were examined at prefrontal lobe and thalamus by multi-voxel 1H-MRS.The N-acetylaspartate ( NAA),Choline-congtaining compounds ( Cho),and Creatine compounds (Cr)were measured and the ratios of NAA/Cr,Cho/Cr were determined. Positive and Negative Syndrome Scale (PANSS),Social Disability Screening Schedule (SDSS),and Wisconsin Card Sorting Test (WCST) were also assessed.ResultsOn left prefrontal lobe of patients,the NAA/Cr ratio demonstrated lower than that in normal controls (1.42 ±0.34 vs.1.64 ±0.39,t =3.70,P＜0.01 ).The same phenomenon were appeared on left thalamus (1.46±0.35 vs.1.66±0.38,t=3.32,P＜0.01) and on right thalamus (1.49±0.34 vs.1.62±0.37,t=2.04,P ＜ 0.05 ).Contributing to the NAA/Cr ratio,main influencing factors on left prefrontal lobe were age of onset,duration of illness,score of negative symptoms,antipsychotic treatment,total score of PANSS,Categories completed of WCST,total score of SDSS,year of education.Main influencing factors on left thalamus were age of onset,duration of illness,antipsychotic treatment.Main influencing factors on right thalamus were duration of illness,age of onset,score of negative symptoms,antipsychotic treatment,and family history.ConclusionsAbnormalities in neuronal function and/or integrity presented on prefrontal lobe and thalamus in schizophrenics are related to many respects,especially age of onset,duration of illness and antipsychotic treatment.

Objective To identify the metabolic alterations in the prefrontal lobe in male patients with schizophrenia by proton magnetic resonance spectroscopy (~1H-MRS), and to study the relationship between metabolic alterations and executive function. Methods The study was conducted in 26 male schizophrenics with medicine-free for at least 7 days and 28 normal controls. A multi-voxel ~1H-MRS on the prefrontal lobe was performed in all the subjects within 24 hours of admission. Wisconsin Card Sorting Test (WCST) was used to evaluate executive function. The NAA, Cho and Cr were measured and the ratios of NAA/Cr, Cho/Cr and NAA/(Cho+Cr) were calculated. Results Compared with normal controls, the patients demonstrated significantly lower NAA/Cr ratio (t=2.93, P<0.01) in the left prefrontal lobe and poorer performance in WCST (P<0.05). The NAA/Cr ratio in the left prefrontal lobe was positively associated with the responses errors and the perseverative errors of WCST(r=0.45, P＜0.05; r=0.47, P＜0.05)and negatively associated with the categories completed and conceptual level responses(r=-0.54, P＜0.01; r=-0.56, P＜0.01). Conclusions Abnormalities in neuronal function and/or integrity are present in the left prefrontal lobe of male schizophrenics. The neuron damage in the left prefrontal lobe of male schizophrenic may be the primary cause of cognition dysfunction.

Objective To retrospectively explore the incidence and causes of apnea after operation for retinopathy of prematurity(ROP). Methods The clinical data of 17 premature infants with operation for ROP(ROP group)and the other 23 premature infants without ROP(control group)were collected.The occurrence of apnea(time of onset and remission and original diseases) was recorded after operation in ROP group and at adjusted 37 weeks of gestational age in control group.Follow-up was conducted for 4 weeks,and the prevalences of apnea were compared between these two groups.Results There was significant difference in prevalenees of apnea between ROP group and control group ( 52.9%vs 21.7%,P<0.05).In ROP group,time of occurrence of apnea was (38±40)h after operation,and time of remission was (126±145)h after onset.Among the infants with apnea,there were 3 cases of pneumonia(33.3%),1 case of hypoglycemia(11.1%)and 5 cases with unexplained causes(55.5%). Conclusion Infants after operation for ROP are more prone to apnea,and pediatricians and ophthalmologists are required to collaborate in the perioperative care.

Objective To analyze the ultrasonic features of interrupted inferior vena cava (IVC) and its relationship with related deformities so as to improve the prenatal diagnosis of isomerism.Methods Pregnant women who received prenatal care in Peking University People's Hospital or who were referred to our hospital for suspected malformation of fetus between January 2010 and December 2013 were enrolled in this study.Fetal echocardiography and abdominal transverse section were performed routinely.Spatio-temporal image correlation technology was used to further clarify interrupted IVC if azygos vein was broadened or IVC disappeared in the fetal abdominal transverse sections.Based on the presence of cardiac structural abnormalities,interrupted IVC was divided into isolated IVC interruption and complex IVC interruption.Neonatal echocardiography was performed in women with continued pregnancies.In women with terminated pregnancy,fetus was autopsied after induced labor.Results In total,12 cases of interrupted IVC were diagnosed,including 5 cases of isolated IVC interruption with full-term delivery and 7 cases of complex IVC interruption.Neonatal echocardiography,abdominal ultrasound were all normal in the 5 cases of isolated IVC interruption except for 3 cases complicated with sistus inversus viscerum.All the 7 cases of complex IVC interruption had induced labor because of some congenital cardiac abnormalities.Autopsy showed that 6 cases had left isomerism,and 1 case had right isomerism.Conclusions Interrupted IVC can be easily identified in prenatal diagnosis due to the typical ultrasonic features.Complication with some congenital cardiac abnormalities often indicates isomerism,especially left isomerism.

Objective To investigate the risk factors,management and prophylaxis of dangerous placenta previa.Methods The clinical data of 407 cases of placenta previa were reviewed,36 cases of them with dangerous placenta previa.Comparison was made between group A (dangerous placenta previa,36 cases) and group B (non dangerous placenta previa,371 cases) in terms of age,number of pregnancy and number of ceasarean delivery.Results The incidence rates of pregnant women in group A age ≥ 35years,number of pregnancy ≥3times,and cesarean delivery≥2times were 55.6％,61.1％,25.0％,which were significantly higher than those of group B (25.6％,27.7％,2.4％),the differences were statistically significant (x2 =7.71,8.99,21.97,all P ＜ 0.01).Among the 36 cases of dangerous placenta previa,12 cases were diagnosed with concomitant placenta increta.The specificity and sensitivity for detection of placenta increta were 90.5％ (19/21) and 83.9％ (10/12) of ultrasonography respectively,and those were 100.0％ (3/3) and 87.5％ (7/8) of MRI.Of the 36 dangerous placenta previa patients,two patients were treated with induced labour due to unexpected pregnancy under 28 weeks,while the others were refer to surgical operation.5 surgical patients experienced uncontrollable postpartum haemorrhage which necessitated histectomy,while the other 31 cases received conservative operation.Rate of histectomy was 13.9(5/36).Conclusion Dangerous placenta previa is associated with advanced age,multiple pregnancy and multiple cesarean delivery.Accurate preoperational evaluation of the placenta previa should be acquired with ultrasonography and MRI to detect placenta increta,provide information for treatment selection,and prevent postpartum haemorrhage.