Threatened abortion is a common disease of obstetrics and gynecology and one of the diseases responding specifically to traditional Chinese medicine （TCM）. The China Association of Chinese Medicine organized experts in TCM obstetrics and gynecology， Western medicine obstetrics and gynecology， and pharmacology to deeply discuss the advantages of TCM and integrated Chinese and Western medicine treatment as well as the medication plans for threatened abortion. After discussion， the experts concluded that chromosome， endocrine， and immune abnormalities were the key factors for the occurrence of threatened abortion， and the Qi and blood disorders in thoroughfare and conception vessels were the core pathogenesis. In the treatment of threatened abortion， TCM has advantages in preventing miscarriages， alleviating clinical symptoms and TCM syndromes， relieving anxiety， regulating reproductive endocrine and immune abnormalities， personalized and diversified treatment， enhancing efficiency and reducing toxicity， and preventing the disease before occurrence. The difficulty in diagnosis and treatment of threatened abortion with traditional Chinese and Western medicine lies in identifying the predictors of abortion caused by maternal factors and the treatment of thrombophilia. Recurrent abortion is the breakthrough point of treatment with integrated traditional Chinese and Western medicine. It is urgent to carry out high-quality evidence-based medicine research in the future to improve the modern diagnosis and treatment of threatened abortion with TCM.

OBJECTIVE: To explore the genetic basis for a patient featuring developmental delay. METHODS: The patient and her parents were subjected to G- and C-banded chromosomal karyotyping analysis. The proband was also analyzed by single nucleotide polymorphism microarray (SNP-array). The result was verified by using fluorescence quantitative PCR (qPCR). RESULTS: The proband's karyotype was ascertained as 46,XX, r(15)(p11.2q26.3)[92]/45,XX,-15[9]/46,XX, dic r(15)(p11.2q26.3;p11.2q26.3)[4]. SNP-array revealed that she has carried a de novo deletion at 15q26.3 (98 957 555-102 429 040) spanning approximately 3.4 Mb, which encompassed the IGF1R gene. qPCR has confirmed haploinsufficiency of exons 3, 10 and 20 of the IGF1R gene. Both of her parents had a normal karyotype. CONCLUSION The abnormal phenotype of the proband may be attributed to the microdeletion at 15q26.3, in particular haploinsuffiency of the IGF1R gene and instability of the ring chromosome. Cytogenetic method combined with SNP-array and qPCR can efficiently delineate chromosomal aberrations and provide accurate information for clinical diagnosis and genetic counseling.
Chromosome Deletion ; Cytogenetic Analysis ; Female ; Genetic Counseling ; Humans ; Karyotyping ; Phenotype ; Ring Chromosomes

Objective:To investigate the clinical efficacy of anterior approach combined with blocking plates and screws in the management of acetabular fracture involving the quadrilateral area.Methods:A retrospective case series analysis was performed for 16 patients with acetabular fracture involving the quadrilateral area admitted to First and Second Affiliated Hospital of Guangxi Medical University from January 2017 to January 2019. There were 12 males and 4 females，with the age of 21-66 years［（45.3±10.6）years］. According to Letournel-Judet classification，there were 9 patients with bi-column fracture，6 with anterior and posterior traverse fracture and 1 with anterior column fracture. A total of 9 patients were operated via the ilioinguinal approach and 7 via the lateral-rectus approach. Reduction and fixation of the pelvis and acetabulum were performed，using 3.5 mm cortical bone screws or plates to block the internal displacement of fracture in the quadrilateral body. The incision length，operation time and intraoperative blood loss were recorded. The quality of fracture reduction was assessed according to the Matta reduction criteria at postoperative 2 days and hip function by the modified Merle D'Aubigne-Postel score at postoperative 3 months and 12 months. Postoperative complications were observed.Results:All patients were followed up for 13-24 months［（16.1±2.9）months］. The ilioinguinal approach and lateral-rectus approach showed surgical incision of 12-26 cm［（18.6±4.0）cm］and 8-15 cm［（10.7±2.3）cm］，respectively. The operation time was 107-215 minutes［（159.2±27.8）minutes］and the intraoperative blood loss was 200-2，300 ml［（853.1±489.7）ml］. According to Matta reduction criteria，the results were excellent in 9 patients and good in 7. Three months after operation，the modified Merle D'Aubigne-Postel score was 11-18 points［（15.2±2.2）points］，which showed the results were excellent in 4 patients，good in 7，fair in 4 and poor in 1，with the excellent and good rate of 69%. Twelve months after operation，the modified Merle D'Aubigne-Postel score was 13-18 points［（16.9±1.4）points］，which showed the results were excellent in 7 patients，good in 8 and fair in 1，with the excellent and good rate of 94%. The liquefaction of post-surgical incision was seen in a patient，bladder injury in a patient，lateral femoral cutaneous nerve injury in a patient，and heterotopic ossification in a patient. There was no loosening or breakage of the internal fixation.Conclusion:For acetabular fracture involving the quadrilateral area，anterior approach combined with blocking plates and screws can prevent the displacement of quadrilateral fracture and attain satisfactory reductiongood hip function recovery and few complications.

OBJECTIVE: To explore the genetic basis for a child with developmental delay and mental retardation. METHODS: Chromosomal karyotype of the child was analyzed by G-, C- and N-banding techniques. Her genome DNA was analyzed with single nucleotide polymorphisms array (SNP array). The result was validated by fluorescence quantitative polymerase chain reaction (PCR). RESULTS: The karyotype of the child was ascertained as 46,XX,r(22)(p12q13). SNP array has revealed a deletion of approximately 1.4 Mb at 22q13.33 (49 802 963-51 197 766). The deletion has encompassed the SHANK3, a crucial gene for the development of nervous system. Fluorescence quantitative PCR has confirmed the deletion of exons 7, 19 and 22 of the SHANK3 gene. CONCLUSION The phenotype of the patient may be attributed to the microdeletion at 22q13.33. Cytogenetic methods combined with SNP array and fluorescence quantitative PCR can identify aberrant chromosomes and provide accurate information for the clinical diagnosis and genetic counseling.

Objective: To apply high-throughput whole genome sequencing (WGS) and short tandem repeat (STR) typing to detect aneuploidies, heteroploidies and copy number variations(CNVs) in spontaneous abortic tissues. Methods: Chorionic villus samples from 145 patients with spontaneous abortion were subjected to detection of aneuploidies, heteroploidies and copy number variations by WGS and STR typing. Results: All testing was successful and the rate of chromosomal abnormalities among the patients was 22.07%. Among these, there were 11 trisomies, 3 monosomies, 2 triploidies, 5 autosomal mosaicisms, 4 sex chromosomal mosaicisms, 7 structural abnormalities (including 1 mosaicism). In 89 cases, there were 130 CNVs of uncertain significance, 47 likely benign CNVs, and 2 loss of one copy of pathogenic AR gene. One sample contained 6 fragment duplications and deletions. Only 24 samples had no abnormal finding. Conclusion The most important reason for spontaneous abortions is embryonic chromosomal abnormality. Combined STR typing and WGS is both comprehensive and fast, and may become a major means for the detection of chorionic villi tissue from spontaneous abortions.

OBJECTIVE: To explore the genetic cause for a child featuring growth and mental retardation. METHODS: Following conventional karyotyping analysis of the trio family, next generation sequencing (NGS) was carried out to explore the origin of the supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) was used to confirm the result. RESULTS: The karyotypes of both parents were normal, while the proband was found to be 47,XX,+mar. NGS showed that the supernumerary marker has originated from chromosome 9p13.1p24.3 with a size of 39.77 Mb. FISH has confirmed the above finding. CONCLUSION The 9p13.1-p24.3 trisomy probably underlies the abnormal phenotypes of the child. Cytogenetic analysis combined with NGS and FISH can provide accurate diagnosis for such disorders.
Child ; Chromosomes, Human, Pair 9 ; genetics ; Cytogenetic Analysis ; High-Throughput Nucleotide Sequencing ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Trisomy

Objective To study the surgical treatment of hepatic hemangiomas and the timing of surgery.Methods A retrospective study was conducted on 908 patients with giant hemangiomas who underwent surgery between December 1997 and December 2017.The clinical data,surgical indications,surgical outcomes,lesion size,and the effect of TAE were compared.Results The diameter (mean + /-S.D.)of the resected hepatic cavernous hemangiomas was (11.1 ± 6.2) cm (the longest diameter was 60 cm).585 patients (64.4％) underwent enucleation of hepatic hemangiomas and 323 patients (35.6％) underwent anatomical hepatectomy.Six patients died perioperatively (mortality rate 0.7％).The incidence of severe complication (Clavien-Dindo grade 3 ～ 5) was 3.8％.The incidence of severe postoperative complication for enucleation (2.7％) was significantly less than anatomic liver resection (5.6％,P ＜0.05).When the lesion was more than 20 cm,the complication and mortality rates were significantly higher than those less than 20 cm (P ＜ 0.05).The complication and mortality rates in patients who underwent TAE before surgery were significantly higher than those without TAE (P ＜ 0.05).Conclusions Surgical enucleation of hemangiomas was superior to anatomical hepatectomy.With increase in tumor size,the risk of surgery increased.Surgical treatment was safe and effective for giant hepatic hemangiomas.For giant hepatic hemangiomas with significant increase in size,prompt surgical treatment is recommended.

OBJECTIVETo assess the value of next generation sequencing (NGS) for the analysis of spontaneous abortion samples.

METHODSThe NGS analysis was carried out on 85 chorionic villi samples (taken between 42 days to 12 weeks of gestation) for which conventional cell culture has failed or chromosomal karyotyping has yielded normal or uncertain result.

RESULTSAmong 68 samples with a normal karyotype, the NGS analysis has identified 2 copy number variations (CNVs) and 2 chimeras. For 16 cases with failed cell culture, the NGS has identified 4 chromosomal abnormalities including 1 copy number variation and 3 numerical chromosomal aberrations. For 1 remaining case with uncertain karyotyping result, the NGS analysis has verified it as 46,XX,del(4) (p15.1p16.3).seq[GRCh37/hg19] (57 549 - 32 371 364)×1.

CONCLUSIONThe NGS analysis is capable of identifying novel CNVs in samples for which conventional cell culture may fail or karyotyping analysis may yield a normal result.

Abortion, Spontaneous ; genetics ; Adolescent ; Adult ; Cells, Cultured ; DNA Copy Number Variations ; Female ; High-Throughput Nucleotide Sequencing ; methods ; Humans ; Karyotyping ; Middle Aged ; Pregnancy ; Young Adult

Objective:To explore the diagnostic value of CD26 expression in endometrial carcinoma (EC) by testing CD26 expression in normal proliferative phase, in secretory phase, and in the tissues of different pathological grades of EC;and by investigating the solu-ble CD26 (sCD26) expression in the serum of non-EC patients and EC patients. Methods:Endometrial tissue specimens were collected from patients who received diagnostic curettage or surgical treatment for other reasons in the Affiliated Hospital of Nantong Universi-ty from January 2014 to December 2015. The above endometrial specimens, included 30 specimens of normal proliferative phase, 30 specimens of secretory phase, and 120 type I EC tissue samples of G1, G2, and G3 grades. The expression of CD26 among these speci-mens were detected by immunohistochemistry. After the expression level of the CD26 protein was verified at the tissue, we continued to collect blood specimens from the outpatients. These patients received physical examination, and included healthy women of child-bearing age and type I EC patients. The patients received treatment in our hospital from January 2016 to September 2017. Of the blood samples collected, 20 cases were in proliferative phase and 20 cases were in secretory phase. Samples were also collected from patients with different grades of EC, including 20 cases of type I EC G1 grades, 20 cases of G2 grades, and 15 cases of G3 grades. The expression level of sCD26 in serum was detected by enzyme-linked immunosorbent assay (ELISA). Results:According to the results of immunohistochemistry, the order of the CD26 expression levels in normal endometrial tissues were as follows:secretory phase>prolif-erative phase, with a statistically significant difference observed among these groups (P<0.05). The order of the CD26 expression level among different type 1 EC grades were as follows: G3>G2>G1, with statistically significant differences also observed among these groups (P<0.05). The results of ELISA suggested that the expression level of CD26 in serum was associated with tumor progression, with statistically significant differences observed among the groups (P<0.05). Conclusion:The expression of CD26 in EC tissue and se-rum is associated with disease progression. The expression of CD26 in serum could be used as a marker for the diagnosis of EC.

Objective:To investigate the therapeutic effect of continuous blood purification (CBP) on acute pancreatitis (AP) and its influence on prognosis.Methods:200 patients with AP in our hospital from January 2010 to December 2016 were selected as the subjects,and they were divided into conventional treatment group and CBP treatment group according to the random number table method,600 cases in each group.The conventional treatment group was received conventional drug therapy,and the CBP treatment group was treated with CBP on the basis of commonly used drugs.The disappeared time of clinical symptoms after treatment and the changes of inflammatory factors and the changes of intestinal function before and 72 h after treatment were compared between the two groups,the mortality rate was compared between the two groups at 7 d after treatment.Results:Abdominal pain disappeared time,abdominal distension disappeared time and abdominal tenderness disappeared time in CBP treatment group after treatment were lower than the conventional treatment group (P＜0.05).There was no significant difference in the levels of endotoxin,C reactive protein (CRP),amylase (AMS),two amine oxidase and malondialdehyde before treatment in the two groups (P＞0.05).At 72 h after treatment,endotoxin,CRP,AMS,two amine oxidase and malondialdehyde levels were lower than those before treatment,and the CBP treatment group was lower than the conventional treatment group (P＜0.05).The mortality rate of CBP treatment group was lower than that of conventional treatment group at 7 d after treatment,the difference was statistically significant (P＜0.05).Conclusion:CBP can effectively improve the clinical therapeutic effect of AP,and improve the clinical prognosis of patients.