Pulmonary hypoplasia (PH) may lead to severe respiratory distress immediately after birth,even neonatal death. The etiological factors, clinical, ultrasonic and pathologic characteristics of PH and the proposed methods for the prenatal diagnosis were reviewed in this article.

OBJECTIVE:To determine the content of glycyrrhetic acid in zhenkening capsules by RP-HPLC.METHODS:The separation was performed on Hypersil C 18,the mobile phase consisted of methanol-water-glacial acetic acid(87∶13∶2.5)with flow rate at 1.0ml/min and detection wavelength at 254nm,the column temperature was set at room temperature.RE-SULTS:The calibration cure of glycyrrhetic acide was linear in the concentration range of 10～120?g/ml(r=0.9999),the average recovery was 99.68%(RSD=0.49%).CONCLUSION:This method is simple,fast,accurate,and suitable for the determination of glycyrrhetic acid in zhenkening capsules.

Objective:To investigate whether the prophylactic use of a dose of sensitive antibiotics before revision for periprosthetic joint infection (PJI) may affect the positive rate of intraoperative specimen culture.Methods:This prospective study recruited the patients who underwent revision due to PJI from July 1, 2017 to February 1, 2019 at Department of Orthopaedics, The First Affiliated Hospital to Fujian Medical University. After use of antibiotics was stopped in all patients for 2 weeks before operation, synovial fluid was extracted for culture to confirm pathogenic bacteria and drug sensitivity and some/all of the prostheses were removed during operation. According to their sequence number of admission, the patients were randomly divided into group A and group B. Samples were taken in group A after a dose of sensitive antibiotics was administered 30 to 60 minutes before revision while a dose of sensitive antibiotics was given in group B after all samples were taken. Intra-operatively, synovial fluid, tissue grinding fluid (TGF) and ultrasonic prosthesis lysate (UPL) were taken for aerobic and anaerobic culture. According to whether there was a positive culture of at least one microbiological specimen, the preoperative and intraoperative culture results were analyzed and compared between the 2 groups.Results:A total of 32 PJI patients were included in this study due to positive culture of synovial fluid before operation, with 16 cases in group A and 16 in group B. The most common infection bacteria were staphylococci (59.3%, 19/32). There was no significant difference in age, gender, mode of operation, Tsukayama classification, prosthesis removal, preoperative ESR, CRP, synovial fluid white blood cell count (SF-WBC) or polymorphonuclear cell percentage (PMN) between the 2 groups. The positive rates of synovial fluid, tissue, TGF and UPL were 81.3% (13/16), 62.5% (10/16), 93.8% (15/16) and 93.8% (15/16) for group A, and 87.5% (14/16), 68.8% (11/16), 93.8% (15/16) and 100.0% (16/16) for group B, showing insignificant differences between the 2 groups ( P>0.05). The positive rates of TGF and UPL culture showed no significant difference between them in group A or in group B ( P>0.05), but they were significantly higher than those of traditional tissue culture ( P<0.05). Conclusions:As prophylactic use of antibiotics before PJI revision may not affect the positive rate of intraoperative specimen culture, it is not necessary to postpone use of prophylactic antibiotics before PJI revision. Furthermore, as positive rates of TGF and UPL culture are similar but significantly higher than those of traditional tissue culture, tissue grinding can be used to improve the positive rate of tissue culture.

Objective To investigate the sonographic characteristics of prune belly syndrome (PBS) in early period of second trimester. Methods A total of 16 pregnancies with diagnosis of PBS were enrolled between January 2014 and March 2017. Their sonographic characteristics and autopsy outcomes were analyzed. Results Overdistension of fetal bladder and flimsy fetal abdominal wall were found in all 16 cases. And there were 5 cases found prenatally to be associated with other abnormalities, including single umbilical artery (2 cases), sacrococcygeal teratoma (1 case), spina bifida manifesta (1 case) and strephenopodia (1 case). All women decided to terminatethe pregnancy, and deficiency of the abdominal musculature and increased collagen fiber were found by autopsy. Because of the confusion of the huge bladder, one case associated with imperforate anus was missed by prenatal ultrasonography. Conclusion Prenatal diagnosis of PBS in early period of second trimester is very important, because the amniotic fluid volume is still enough to evaluate the fetal structure.

OBJECTIVE: To explore the genetic etiology of a fetus with Cornelia de Lange syndrome type 1. METHODS: Clinical data of the fetus was collected. Genomic DNA was extracted from amniotic fluid and peripheral blood samples of the parents and subjected to low-depth copy number variant sequencing, whole exome sequencing (WES) and Sanger sequencing. Pathogenicity of the candidate variant was predicted based on the guidelines of American College of Medical Genetics and Genomics (ACMG). Minigene assay was used to assess the effect of the variant on mRNA splicing. RESULTS: WES revealed that the fetus has harbored a heterozygous c.5808+5gG>A variant in the intron of the NIPBL gene, which was predicted to affect the mRNA splicing. The same variant was not detected in either parent. The variant was not recorded in ExAC, 1000G and dbSNP databases. Comprehensive analysis showed that the variant was deleterious and may result in skipping of exon 31 during mRNA splicing. CONCLUSION The fetus was diagnosed with Cornelia de Lange syndrome type 1. Splicing variant identified by WES may be verified by minigene assay in vitro, which can provide more evidence for the prediction of its pathogenicity.
Cell Cycle Proteins/genetics* ; De Lange Syndrome/genetics* ; Female ; Fetus ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis ; RNA, Messenger

OBJECTIVE: To explore the genetic basis for a patient with Alport syndrome (AS) and confirm the existence of a splicing variant. METHODS: An AS patient diagnosed at the Affiliated Hospital of Inner Mongolia Medical University on January 8, 2021 for significant proteinuria and occult hematuria was selected as the study subject. Clinical data was collected. Peripheral blood samples were collected for the extraction of genomic DNA. Whole exome sequencing and Sanger sequencing were carried out to identify potential genetic variants. An in vitro experiment was also conducted to verify the abnormal mRNA splicing. Bioinformatic software was used to analyze the conservation of amino acids of the variant sites and simulate the 3D structure of the variant collagen IV protein. Immunofluorescence and immunohistochemistry were carried out on renal tissues from the patient to confirm the presence of AS kidney injury. RESULTS: The patient, a 21-year-old male, had a 24-hour urine protein of 3.53 g/24 h, which fulfilled the diagnostic criteria for proteinuria. His blood uric acid has also increased to 491 μmol/L. DNA sequencing revealed that he has harbored a c.835-9T>A splice variant of the COL4A5 gene, which was not found in either of his parents. In vitro experiment confirmed that the variant has removed 57 bp from the exon 15 of the mRNA of the COL4A5 gene. The deletion may cause loss of amino acid residues from positions 279 to 297, which in turn may affect the stability of the secondary structure of the α5 chain encoded by the COL4A5 gene. The amino acids are conserved across various species. The result of homology modeling indicated that the trimerization of Col-IV with the mutated α5 chain could be achieved, however, the 3D structure was severely distorted. The AS kidney damage was confirmed through immunofluorescence assays. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.835-9T>A variant was classified as likely pathogenic (PVS1_Moderate+PS3_Moderate+PM2_Supporting+PS2+PP3+PP4). CONCLUSION The c.835-9T>A variant of the COL4A5 gene probably underlay the AS in this patient. In vitro experiment has confirmed the abnormal splicing caused by the variant. Histopathological examination of the kidney tissue has provided in vivo evidence for its pathogenicity. Above finding has expanded the mutational spectrum of the COL4A5 gene.
Humans ; Male ; Young Adult ; Amino Acids ; China ; Collagen Type IV/genetics* ; Exons ; Nephritis, Hereditary/genetics* ; RNA Splicing

OBJECTIVETo analyze the impact of platelet count on the prognosis of stage II-III colorectal cancer receiving adjuvant chemotherapy.

METHODSClinical and follow-up data of 286 patients with stage II-III colorectal cancer receiving adjuvant FOLFOX chemotherapy from March 2003 to October 2011 were analyzed retrospectively. Associations of baseline blood platelet count before chemotherapy and nadir blood platelet count during chemotherapy with relapse and death after adjuvant chemotherapy were analyzed by ROC curve and the optimal cutoff was selected. The association of the blood platelet count and the prognosis was analyzed by Kaplan-Meier and Cox regression model.

RESULTSROC curve showed the baseline blood platelet count was associated with recurrence (AUC=0.588, P=0.034). The optimal cutoff affecting recurrence was 276×10(9)/L. Kaplan-Meier showed those with baseline platelet count >276×10(9)/L receiving adjuvant chemotherapy had worse disease free survival (DFS) than those with baseline platelet count ≤276×10(9)/L, whose 5-year disease free survival(DFS) was 66% and 80% respectively (P=0.013). Cox regression analysis revealed baseline platelet count >276×10(9)/L was an independent unfavorable factor for DFS of adjuvant chemotherapy in colorectal cancer (HR=1.865, 95% CI: 1.108-3.141, P=0.019).

CONCLUSIONColorectal cancer patients receiving adjuvant chemotherapy with baseline platelet count >276×10(9)/L have worse prognosis.

Antineoplastic Combined Chemotherapy Protocols ; Chemotherapy, Adjuvant ; Colonic Neoplasms ; Colorectal Neoplasms ; Disease-Free Survival ; Fluorouracil ; Humans ; Leucovorin ; Neoplasm Staging ; Organoplatinum Compounds ; Platelet Count ; Prognosis ; Recurrence ; Retrospective Studies

Clinical data were retrospectively reviewed for one case of penicillium marneffei infection after renal transplantation (RT) to explore a proper management of peniciliosis marneffei (PSM)transplantation.This case had a history of pulmonary tuberculosis and underwent RT due to uremia.After discharging, postoperative recovery was excellent.Recurrent cough occurred at Month 7 post-operation.Fiberoptic bronchoscopy and pulmonary CT indicated a possibility of pulmonary tuberculosis.However, a definite diagnosis of PSM was confirmed by next generation sequencing (NGS) and pathogenic bacteria culture of alveolar lavage fluid.After adjusting immunosuppressive agents and regular antifungal treatment with voriconazole, respiratory symptoms improved and pulmonary CT hinted at a resorption of lesion.Features of pulmonary CT and bronchoscopic examination were nearly similar to those of tuberculosis.Thus early bacterium culture and NGS may aid an definite diagnosis.Voriconazole is an effective treatment of the disease.

Purpose To investigate the clinical and patho-logical characteristics,molecular characteristics,treatments and prognosis of adenoid cystic carcinoma(AdCC)of the breast.Methods A retrospective analysis was conducted on the clini-cal pathology of 14 breast AdCC patients,and HE,immunohis-tochemistry,FISH testing,and follow-up were performed.Re-sults All cases were female,aged 43～70 years.10 cases of classic AdCC and 4 cases of solid-basal cell AdCC(SB-AdCC)were included.The tumor was composed of epithelial,myoepi-thelial and basal-like cells arranged in sieve,tubular and solid pattern with fibrous mucinous or glassy changes in the stroma.The tumor cells of SB-AdCC were moderately to severely atypical with frequent mitosis and necrosis,accompanied by ductal carci-noma in situ(DCIS).Expression of ER(1/14),PR(1/14),HER2(0/14),CK7(14/14),p63(12/14),CK5/6(14/14),CD117(13/14),MYB(9/14)was detected;Ki67 index was 13.2％and 46.1％in classic AdCC and SB-AdCC,respec-tively.The MYB rearrangement rates in classic AdCC and SB-AdCC were 55.6％(5/9)and 25％(1/4),respectively.All patients were underwent surgical resection and/or radiotherapy and chemotherapy.During the follow-up period(2-62 months),1 SB-AdCC patient died due to lung and liver metasta-sis,while the other 10 patients survived without tumors.Con-clusion SB-AdCC is more invasive than classical AdCC with lower frequency of MYB gene rearrangement,and immunohisto-chemical detection of MYB protein has potential value in assis-ting the diagnosis of SB-AdCC.

To explore the feasibility and experience of kidney transplantation with horseshoe kidney as donor kidney. The horseshoe kidney donated by a brain dead donor was obtained by in-situ perfusion and whole piece incision. After methylene blue staining was injected into the inferior pole artery of the kidney and separated from the isthmus along the edge of the stained site, two kidney donors were divided into two recipients with successful implantation. After renal transplantation, the blood supply of the two donor kidneys was good. During the perioperative period, there was no bleeding or urine leakage. Postoperative ureteral obstruction occurred in one recipient. After the double J-tube drainage was ineffective, autologous ureter was anastomoted with the renal pelvis of the transplanted kidney. Up to now, the renal function of two recipients remained stable. According to literature analysis, kidney transplantation with well-functioning horseshoe kidney as donor kidney is safe and feasible, but its postoperative complication rate is higher than that of conventional kidney transplantation.