35 g/L) by serum albumin determination. Relationship between prognosis and BMI as well as serum albumin was observed. Results:Morbidity of malnutrition was as high as 31.3 %.Concentration of serum albumin was low in most patients. Postoperative complications occurred mainly in malnutrition and hypoalbuminemia group. Conclusions:BMI and serum albumin are related with patients' prognosis and can be used to estimate risks of operations.

Objective To evaluate the effect of two different venous drainage patterns on the prognosis of fetal pulmonary sequestration( PS) . Methods Sixty cases of fetal PS with confirmed venous drainage diagnosed by prenatal ultrasound were retrospectively analyzed . Changes of the volumes of PS lesions and the clinical outcomes were compared between two different venous drainage patterns . Results Among the total 64 cases ,34 cases were pulmonary venous drainage and 30 cases were systemic venous drainage . There was no case combined with any abnormality in pulmonary venous drainage group;whereas , 6 cases combined with other abnormalities in systemic venous drainage group ,between which significant difference was noted( P =0 .02) . In pulmonary venous drainage group ,there was no significant difference in the volumes of PS lesions between at 20-24 weeks′gestational age(WGA) and at 24+1 -30 WGA( P >0 .05) ;but not between at 24+1 -30 WGA or at 20 -24 WGA and at 30+1 -39 WGA ( P < 0 .05) . However ,in the systemic venous drainage group ,the volumes of PS lesions were stable at these three stages ( P > 0 .05) . Postnatal respiratory symptoms and postnatal surgery rates were similar between the two groups( P > 0 .05) . Conclusions PS with systemic venous drainage is more likely combined with other abnormalities than PS with pulmonary venous drainage . The lesion volumes of PS with pulmonary venous drainage decreas remarkably during the middle‐late pregnancy . Nevertheless ,the clinical postnatal outcomes are both favorable in the two groups .

Objective To explore the value of sonogram index scoring system in the prenatal diagnosis of trisomy 18 syndrome.Methods Neonates who had prenatal sonographic screening in our tertiary center were followed up from January 2004 to December 2009.The fetuses who were suspected with abnormalities received karyotype analysis.All fetuses were divided into case group ( trisomy 18 group) and the control group (non-trisomy 18 group).The latter group was constituted of fetuses with trisomy 21,trisomy 13,other chromosomal abnormalitis and fetuses with normal karyotype.Logistic regression analysis was done to decide the individual sonographic features of trisomy 18.A score was assigned for ultrasound markers according to their likelihood ratios for trisomy 18 syndrome.A score of 3 was assigned for the sonographic features with likelihood ratio over 200,2 for those with likelihood ratio between 100 and 200,and 1 for those with likelihood ratio less than 100.The diagnostic efficacy of the ultrasound index scoring system was evaluated by diagnostic test.The optimal cutoff value was determined by receiver operating characteristic (ROC) curve.Results The study group included 59 fetuses with trisomy 18.And 26 486 fetuses did not have trisomy 18 syndrome,including 93 fetuses with trismoy 21,19 fetuses with trisomy 13,134 fetuses with other chromosomal abnormalities,3739 fetuses with normal karyotype and 22 501 fetuses with normal appearance after birth.Two or more structural defects were observed in each trisomy 18 fetus.The highest incidence of sonogram abnormalities was extremities abnormalities (85％,50/59 ),followed by cardiac defects (83％,49/59) and central nervous system (CNS) malformations (75％,44/59).Overlapping fingers,ventricular septal defect and strawberry-shaped skull were the most common abnormalities in extremities abnormalities,cardiac defects and CNS malformations,respectively.Logistic regression identified 16 markers,including choroid plexus cyst,strawberry-shaped skull,enlarged cisterua magna,holoprosencephaly,low-set ears,ventricular septal defect,hypoplastic left heart syndrome,etc.Different scores were assigned according to the likelihood ratios of these markers.In trisomy 18 group,fetuses with the sonographic score of 1,4,9,10 to 16 were 2％ ( 1/59),9％ (5/59),10％ (6/59) and 32％ (19/59) respectively,whereas in non-trisomy 18 group they were 2.549％ (675/26 486),0.215％ (57/26 486),0.004％ ( 1/26 486) and zero,respectively.When a score of 4 was used as the cutoff value for diagnosing fetal trisomy 18,the sensitivity and specificity were 0.966 and 0.997,respectively.The area under ROC curve was 0.999.Conclusions The ultrasound index scoring system may help to quantify the ultrasound features and has a good diagnostic value for fetal trisomy 18 syndrome.The cutoff value of 4 has the best diagnostic efficacy.

Craniosynostosis (CS) is a congenital skeletal disease caused by premature fusion of one or more cranial sutures. According to whether accompanied by injuries in other organ systems besides craniofacial deformity, CS can be divided into syndromic craniosynostosis (SCS) and non-syndromes craniosynostosis (NSC), accounting for 85% and 15% respectively. Especially, SCS can lead to more serious clinical symptoms. The occurrence of CS is influenced by both environmental and genetic factors, including monogenic mutation, chromosome abnormality and gene polymorphism. Common related genes include FGFR1, FGFR2, FGFR3, TWIST1, MSX1, ERF, TCF12. Most of published genetic studies on CS are concentrated in the European population, showing different genetic pathogenesis between SCS and NSC. Studies on molecular genetics of CS is important in the clinical diagnosis, treatment and genetic counseling. We reviewed the research status and progress of the pathogenesis of CS through the development of CS, as well as the genetic studies of SCS and NSC.

This paper is based on the theory of"internal diseases will be presented externally"in Traditional Chinese Medicine, combined with the idea of syndrome differentiation and grasping the main symptoms, and proposes the concept of"virtual special disease". It is extracted from ancient books and expert experience, and it is believed that it is widespread and can be tested by clinical practice. The application of virtual syndrome to diagnosis can achieve the purpose of simplifying the complexity TCM syndrome differentiation. On the one hand, it provides a new exploration for enriching the TCM syndrome differentiation system; on the other hand, it provides new ideas for supplementing the biological research of syndromes and developing the diagnosis of integrated traditional Chinese and Western medicine.

Liver depression and spleen deficiency syndrome is common in clinical practice. It has both the symptoms of uncomfortable liver depression and poor digestion of spleen deficiency. The brain-gut peptide not only regulates the gastrointestinal tract, but also participates in the regulation of mood, which is consistent with the mechanism of liver depression and spleen deficiency syndrome. At present, there are more than 10 brain-gut peptides discovered. This paper reviews several of these brain-gut peptides that are most closely related to liver depression and spleen deficiency syndrome to explore the relationship between brain-gut peptides and liver depression and spleen deficiency.

Wuling powder, which is from Treatise on Cold Damage and Miscellaneous Diseases of Zhang Zhongjing, is a famous formula from thousand years now on. As people have a deeper understanding of Wuling powder, its application range is more extensive. In Treatise on Cold Damage and Miscellaneous Diseases and Essentials from the Golden Cabinet, there are a total of 11 articles concerning Wuling powder. Wuling powder syndrome can be classified as pulse floatation, fever, thirst, irritability, vomiting and urination, which can also occur in dehydration by sorting out and analyzing these articles. This paper talks about the relationship between Wuling powder syndrome and dehydration from the etiology, the symptom and the clinical application as well as to the thought of Wuling powder syndrome several aspects.

Objective To investigate the clinical performance of ultrasound screening for fetal structural anomalies at 11-13+6 weeks of gestation and to evaluate the relation of structural anomalies with karyotypes and copy number variations. Methods A retrospective analysis was conducted on fetuses with structural anomalies detected by ultrasound examination at 11-13+6 gestational weeks in First Affiliated Hospital of Sun Yat-Sen University from January 2013 to December 2017. Karyotype and chromosomal microarray analysis(CMA) were offered to these fetuses and ultrasound scans were repeated at 16-18 gestational weeks. All fetuses were followed up to termination or birth. Fisher's exact test was used for statistical analysis. Results A total of 362 fetuses with structural anomalies were studied including 101 (27.9%) fatal malformations, 253 (69.9%) major malformations and eight (0.2%) minor malformations. Cardiac malformation (32.6%, 118/362), central nervous system anomalies (24.9%, 90/362) and anterior abdominal wall defects (20.9%, 76/362) were the three most common abnormalities. Invasive prenatal test was performed in 107 cases including 25 fatal, 79 major and three minor malformations. Thirty (28%) out of the 107 cases had abnormal karyotypes, which were chromosomal aneuploidies (n=28) and chromosomal fragment abnormalities (n=2). Among the 99 cases received CMA, 25 had abnormal karyotypes, and copy number variations were identified in eight [three (4.05%) were pathogenic variations] out of the rest 74 with normal karyotypes. The incidence of chromosomal abnormalities in fetuses with major malformations was higher than that of fetuses with fatal malformation [32.9% (26/79) vs 12.0% (3/25), P=0.045]. Altogether, 117 cases repeated second-trimester ultrasound among which 16 (13.7%) were normal; 19 (16.2%) had cardiac defect which was discordant with the first-trimester evaluation and five (4.2%) were found to have additional malformations. Diagnosis of the other 77 cases were consistent with the first-trimester ultrasound findings. After the second-trimester ultrasound scanning, 49 pregnancies were terminated; 39 twin pregnancies and four triplet pregnancies underwent selective fetal reduction; 25 continued to delivery with good neonatal outcomes. Out of the 23 699 cases without abnormal ultrasound findings at 11-13+6 gestational weeks, 20 182 (85.2%) were successfully followed up, among which structural abnormalities were found in 178 during the second trimester and in 31 after birth. Conclusions A detailed ultrasound examination at 11-13+6 weeks of gestation is important to identify fetal structural defects. However, it could not replace the second-trimester ultrasound. There is a high risk of chromosomal abnormalities in fetuses with early-detected structural defects. CMA is able to identify pathogenic copy number variations with a relatively low detection rate.

Craniosynostosis (CS) is a congenital skeletal disease caused by premature fusion of one or more cranial sutures. According to whether accompanied by injuries in other organ systems besides craniofacial deformity, CS can be divided into syndromic craniosynostosis (SCS) and non-syndromes craniosynostosis (NSC), accounting for 85% and 15% respectively. Especially, SCS can lead to more serious clinical symptoms. The occurrence of CS is influenced by both environmental and genetic factors, including monogenic mutation, chromosome abnormality and gene polymorphism. Common related genes include FGFR1, FGFR2, FGFR3, TWIST1, MSX1, ERF, TCF12. Most of published genetic studies on CS are concentrated in the European population, showing different genetic pathogenesis between SCS and NSC. Studies on molecular genetics of CS is important in the clinical diagnosis, treatment and genetic counseling. We reviewed the research status and progress of the pathogenesis of CS through the development of CS, as well as the genetic studies of SCS and NSC.

Objective:To explore the common pathogenic gene mutation in non-syndromic craniosynostosis in Chinese population.Methods:Patients with non-syndromic craniosynostosis were recruited in Huashan Hospital Affiliated to Fudan University from March 2018 to December 2020. A clinical questionnaire was designed to collect the general information of the patients. The gene panel was designed by entering the keywords craniosynostosis and gene panel in PubMed, extracting all relevant literature from January 1995 to May 2017. The gene library was sequenced on the Illumina HiSeq X platform, and bioinformatic analysis and pathogenic analysis were performed.Results:A total of 237 literatures were reviewed in the PubMed and Ovid databases, and the total sample was 3375 patients, of which 1822 cases (54%) were detected with corresponding mutations, involving 21 pathogenic genes. Based on the mutation detection rate of not less than 0.4%, 12 genes were selected in the gene panel: FGFR2, TWIST1, FGFR3, EFNB1, FGFR1, SKI, POR, RAB23, TCF12, MSX2, SMAD3 and ERF. A total of 109 patients with non-syndromic craniosynostosis were recruited in this study, including 62 males and 47 females; the average age was 2.1 years old. All participants denied family history. The average age at childbearing of father was 28.3 years old and of mother was 26.7 years old. 14 different pathogenic/ probable pathogenic mutation loci were found in the gene sequences of 19 patients. The mutation rate was 17.4%. The 14 mutation varients were distributed in 5 genes (FGFR2, TWIST1 , TCF12, EFNB1 , and FGFR3) . The 14 mutations can be classified into 5 missense mutations, 3 nonsense mutations, 1 splice mutation, 1 frameshift mutation and 4 in-frame deletion mutations, 11 of which have not been reported. These 11 novel mutations were mainly concentrated in two genes, TWIST1 and TCF12. The mutation types included: 3 loss-of-function, 4 frameshift deletions, 3 missense mutations, and 1 frameshift insertion, of which 7 were de novo mutation.Conclusions:TWIST1 and TCF12 are common pathogenic genes in Chinese patients with non-syndromic craniosynostosis.