OBJECTIVE: To investigate the significance of CD27 and CD56 in the prognosis of multiple myeloma (MM) patients, and to establish a simple and convenient prognostic risk score. METHODS: One hundred and eleven newly diagnosed MM patients treated by bortezomib in Shengjing hospital from January 1, 2013 to January 1, 2019 were selected, and the relationship between clinical characteristics and survival time of patients was analyzed. RESULTS: The overall survival (OS) of patients in CD27 CONCLUSION Among patients with MM treated by bortezomib, CD27
Bortezomib ; CD56 Antigen ; Hematopoietic Stem Cell Transplantation ; Humans ; Multiple Myeloma ; Prognosis ; Retrospective Studies

OBJECTIVE: To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). METHODS: Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member. RESULTS: The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant. CONCLUSION The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.
Cerebellum/abnormalities* ; Child ; Developmental Disabilities ; Family ; Humans ; Mental Retardation, X-Linked ; Microcephaly/genetics* ; Nervous System Malformations

OBJECTIVE: To analyze the clinical features and pathogenesis of a fetus with holoprosencephaly. METHODS: The findings of prenatal ultrasonography was reviewed. Following elective abortion, whole exome sequencing (WES) was carried out to identify potential pathogenic variant. Copy number variants (CNVs) of the abortus and its parents were detected by low-depth high-throughput sequencing. The parents were also analyzed by chromosomal karyotyping. RESULTS: Prenatal ultrasound suggested that the fetus had holoprosencephaly. WES revealed that it had approximately 33 Mb deletion at chromosome 13 involving ZIC2, a haploid dose sensitive gene. The results of low-depth high-throughput sequencing confirmed that the fetus carried a de novo 32.32 Mb deletion at 13q31.1-34. Karyotyping analysis has excluded gross chromosomal aberration in both parents. CONCLUSION The fetus was diagnosed with holoprosencephaly, which may be attributable to the 13q31.1-34 deletion involving the ZIC2 gene.
Adult ; Chromosomes, Human, Pair 13 ; genetics ; Female ; Fetus ; Genetic Testing ; Holoprosencephaly ; diagnostic imaging ; genetics ; pathology ; Humans ; Karyotyping ; Male ; Nuclear Proteins ; genetics ; Pregnancy ; Prenatal Diagnosis ; Sequence Deletion ; Transcription Factors ; genetics ; Ultrasonography, Prenatal ; Whole Exome Sequencing

OBJECTIVETo investigate the effects of epigallocatechin-3-gallate (EGCG) on proliferation and cell cycle of acute promyelocytic leukemia NB4 cell line and to clarify the molecular mechanism.

METHODSNB4 cells were treated with 0,50,75,100 and 125µmol/L of EGCG for 24, 48, 72 and 96 h, respectively. The proliferation level of NB4 cells was measured by CCK-8 assay. The cell cycle progression of NB4 cells was assayed by flow cytometry. The mRNA expression levels of DNMT1, DNMT3a and DAPK1 were detected by RT-PCR. The methylation status of gene was tested by methylation specific PCR, and the expression level of DAPK1 protein was detected by Western blot.

RESULTSThe proliferation and cell cycle progression of NB4 cells treated with EGCG were inhibited and showed the characteristic of time-dependent and dose-dependent manner. The expression level of DAPK1 and DNMT3a decreased in NB4 cells treated with EGCG. The expression level of DAPK increased in NB4 cells treated with EGCG, while the methylation of DAPK1 gene decreased.

CONCLUSIONEGCG inhibits the proliferation and cell cycle progression of NB4 cells by inhibiting the expression of DNMT1 and DNMT3a and down-regulating the methylation status of DAPK1 gene.

OBJECTIVETo investigate the immunophenotype of leukemia promyelocytes (LP) in bone marrow of patients with acute promyelocytic leukemia (APL) and to explore their characteristics and significance.

METHODSThe immunophenotypes of leukemia cells in 43 patients with APL were analyzed by means of 4 color immunophenotypes; the cell population in which CD45 strength localized at 10(2) and the SSC strength locatized at 10(2) was defined as R3, the cell population in which CD45 strength localized at 10(3) and the SSC strength localized at 10(2) was defined as R5, moreover the ratio of positive cells >80% was defined as strong positive expression, the ratio of positive cells between 20%-80% was difined as weak positive expression, the ratio of positive cells <20% was difined as negative by gating method of CD45/SSC.

RESULTSThere was a abnormal cell population (R3) in 79.07% cases; the immunophenotypes of R3 was cheracteried by high SSC, weaker expression of CD45, the rate of CD38, CD9 and CD13 all was 100%, moreover their bright expression (>80%) was 86.05%, 90.70% and 86.05%, respectively; the positive expression rate of CD33, CD117 and CD64 was 97.67%, 95.35% and 83.80% respectively, moreover thier bright expression was 84.04%, 69.77% and 30.23% respectively; the CD15 was weakly expressed in 39.53% cases, the CD34 and HLA-DR were weakly expression in 16.28% and 6.98% cases respectively. All the cases did not express CD116. There were 2 cell populations (R3 and R5) in 20.93% cases, the immunophenotypic features of R3 were cosistant with above mentioning, while the immunophenotypes of R5 were lower than those of R3 SSC; the fluorescence intensity of CD45 was higher, but lower than that in normal lymphycytes, the positive rate of CD9, CD13, MPO was 100%, moreover thier fluorescence intensity was high; they did not expressed CD123, CD25, CD22, CD4, CD64 and CD14. Thereby it can be concluded that the typical immunophenotypes is characterized by CD13(+) CD9(+) CD38(+) CD33(+) CD117(+) CD64(+) CD11b(-) CD34(-) HLA-DR(-) in APL. There was a special immunophenotype in the APL with basophilic granules. Conclusoin: APL has a characteristic immunophenotypic profile, whose typical immunophenotype is characterized by CD13(+) CD9(+) CD38(+) CD33(+) CD117(+) CD64(+) CD11b(-) CD34(-) HLA-DR(-). The special immunophenotype exists in the APL with basophilic granules. Flow cytometric immunophenotyping may be a useful for rapid recognition of APL and has significant for prognosis.

Antigens, CD ; metabolism ; Cell Count ; Flow Cytometry ; Granulocyte Precursor Cells ; classification ; HLA-DR Antigens ; metabolism ; Humans ; Immunophenotyping ; Leukemia, Promyelocytic, Acute ; classification ; immunology ; Leukocyte Common Antigens ; metabolism ; Prognosis

Multiple myeloma (MM) is a hematologic malignancy resulted from genetic mutations in the process of B lymphocyte differentiating into plasma cells, the chemotherapy is the main treatment method, especially with the development of proteasome inhibitors and other drugs, the overall survival rate of MM patients has improved greatly, but the chemoresistance is still an important reason for treatment failure. Chimeric antigen receptor (CAR)-modified T lymphocyte therapy is a new method for tumor adoptive immunotherapy. By means of genetic modification, T cells are able to identify the target antigen specifically, and to kill target cells without major histocompatibility complex (MHC) restriction, therefore the specific killing activity is conspicuous, which has got considerable attention by the public, and has made remarkable achievements particularly in the treatment of B-lineage leukemia and lymphoma, but no systematic literatures were reported in the field of multiple myeloma using CAR therapy. Therefore, this review summarizes the research results of different CAR target in vivo and in vitro experiments for multiple myeloma.
Genetic Therapy ; Humans ; Immunotherapy, Adoptive ; methods ; Multiple Myeloma ; therapy ; Receptors, Antigen, T-Cell ; T-Lymphocytes ; cytology

OBJECTIVETo explore the relationship of Ghrelin gene polymorphism with the occurrence of human anorectal malformations (ARMs) and Hirschsprung disease(HSCR).

METHODSPCR and DNA sequencing were used to detect the single nucleotide polymorphism (SNPs) of 3 loci (rs139684563, rs149447194, rs186599567) genotype of Ghrelin gene in 100 children with ARMs, 100 children with HSCR, and 100 healthy children (normal group). Genovariation and gene mutation were analyzed with case-control method.

RESULTSThree loci SNPs were in accordance with Hardy-Weinberg genetic equilibrium. No significant differences were found in rs139684563 allele and genotype frequencies between the cases and the normal groups (P>0.05). The allele and genotype frequencies of rs149447194 and rs186599567 were significantly different between cases and normal group (P<0.05). DNA sequencing results showed that wild-type homozygous deletion (176th and 191th base A deletion, respectively) were found in rs149447194 and rs186599567of ARMs and HSCR children, and single base substitution was detected in rs149447194 of ARMs children (194th codon nucleotide CCT to CTC).

CONCLUSIONSThe rs149447194 and the rs186599567 polymorphism changes may be associated with the pathogenesis of ARMs and HSCR.

Alleles ; Base Sequence ; Gene Frequency ; Genotype ; Ghrelin ; Hirschsprung Disease ; Humans ; Mutation ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Rectal Diseases ; Sequence Analysis, DNA

OBJECTIVETo study the effects of transforming growth factor-β1 (TGF-β1) on the gene expression of connective tissue growth factor (CTGF) in cultured lung fibroblasts of embryonic rats in vitro.

METHODSWistar rats of embryonic 19 days were used for primary culture of lung fibroblasts (LFs). The cells in the experimental group were treated by different concentrations (1, 5 or 10 ng/mL) and different durations (12, 24 or 48 hrs) of TGF-β1 to stimulate the LFs. The cells in the control group were cultured in serum-free medium. RT-PCR method was applied to detect CTGF mRNA expression in LFs.

RESULTSCompared with the control group, the levels of CTGF mRNA in LFs in the experimental group increased significantly (P<0.05). CTGF mRNA expression gradually increased with increasing concentration and duration of TGF-β1 treatment (P<0.05).

CONCLUSIONSTGF-β1 can stimulate CTGF gene expression in LFs and increase CTGF gene expression in a dose-and time-dependent manner.

Animals ; Connective Tissue Growth Factor ; genetics ; Female ; Fibroblasts ; metabolism ; Gene Expression ; drug effects ; Lung ; cytology ; metabolism ; Pulmonary Fibrosis ; etiology ; RNA, Messenger ; analysis ; Rats ; Rats, Wistar ; Transforming Growth Factor beta1 ; pharmacology

Adenocarcinoma ; metabolism ; pathology ; surgery ; Adenocarcinoma, Clear Cell ; metabolism ; pathology ; Adult ; CA-125 Antigen ; metabolism ; Carcinoembryonic Antigen ; metabolism ; Cervical Intraepithelial Neoplasia ; metabolism ; pathology ; surgery ; Cystadenocarcinoma, Serous ; metabolism ; pathology ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Hysterectomy ; Ki-67 Antigen ; metabolism ; Lymph Node Excision ; Membrane Proteins ; metabolism ; Neoplasm Invasiveness ; Uterine Cervical Neoplasms ; metabolism ; pathology ; surgery

The survey on branchial anomalies was conducted by Korean Association of Pediatric Surgeons. A total of 173 cases were reported, which were managed by 36 members and cooperators during the three years from January 1, 1993 through December 31, 1995. The following results were obtained by retrospective analysis of the 173 cases of branchial anomalies. The presenting symptoms were cervical mass in 101 cases, pit with or without discharge in 71, cervical abscess in 47 and respiratory difficulty in 3. The average age of the patients with cervical abscess was 52 months. Seventy(79%) of 89 patients with branchial anomalies and a cystic mass had their first clinical manifestations by 1 year of age, while 40(51%) of 78 patients with only a branchial cyst had their first clinical manifestation in first year of life. Radiologic studies were carried out in 77 patients(43%). The preferred diagnostic modalities were ultrasonography(47 patients), simple neck radiogram(l9) and CT scan(17). Preoperative diagnosis was correctly made in 156(91%) of 173 patients. Seventeen patients were incorrectly diagnosed as thyroglossal duct cyst in 5 patients, cystic hygroma in 4, dermoid cyst in 3, and lymphadenopathy in 3. There were no remarkable difference in sex and laterality of presentation but bilateral lesions were found in 9(5%) patients and unusual locations of the anomalies were the manubrium, left subclavicular area, median cervial area, preauricular and parotid area. There were 78(45%) patients with cyst, 52(30%) patients with sinus, 35(20%) patients with fistula and 8(5%) patient with skin tag. Embryological classification was possible in only 64(37%) patients. The 2nd branchial anomaly was present in 50 (78%), the 1st branchial anomaly in 10(18%), and the 3rd or 4th branchial anomaly in 4(6%). Histopathological study of the lining epithelium(N=134) is recorded that 45% were lined with squamous epithelium, 17% with respiratory epithelium, 6% with. squamous and respiratory epithelium, 14% with inflammatory change. Lymphoid tissue was common(62%) in the wall of the lesions. Twelve(7%) of 158 patients had postoperative complications including wound complication, recurrence and facial nerve palsy.
Abscess ; Branchioma ; Child ; Classification ; Dermoid Cyst ; Diagnosis ; Epithelium ; Facial Nerve ; Fistula ; Humans ; Korea ; Lymphangioma, Cystic ; Lymphatic Diseases ; Lymphoid Tissue ; Manubrium ; Neck ; Paralysis ; Postoperative Complications ; Recurrence ; Respiratory Mucosa ; Retrospective Studies ; Skin ; Surgeons ; Thyroglossal Cyst ; Wounds and Injuries