OBJECTIVE: To explore the clinical and genetic characteristics of two children with developmental delay. METHODS: Two children who had presented at the Children's Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children. RESULTS: Both children had a 46,XX karyotype. High-throughput sequencing showed that they have respectively carried a c.489delG (p.Q165Rfs*14) and a c.1157_1158delAT (p.Y386Cfs*22) frameshifting variant of the CTCF gene, both had a de novo origin and were unreported previously. CONCLUSION The CTCF gene variants probably underlay the development delay in the two children. Above discovery has enriched the mutational spectrum of the CTCF gene and has important implications for revealing the genotype-phenotype correlation for similar patients.
Child ; Humans ; Developmental Disabilities/genetics* ; High-Throughput Nucleotide Sequencing ; Intellectual Disability/genetics* ; Karyotyping ; Mutation

OBJECTIVE: To explore the genetic basis for a child featuring short stature. METHODS: G-banded karyotyping, chromosomal microarray analysis (CMA) and high-throughput sequencing were carried out on peripheral blood sample from the child. RESULTS: The karyotype of the child was ascertained as 45,XY,-4[3]/46,XY,r(4)(p16q35)[84]/47,XY,-4,r(4)(p16q25)*2[7]/48,XY,-4,r(4)(p16q35)*3[1]/46,XY,dic r(4;4)(p16q35;p16q35)[2]/46,XY,add(4)(p16)[3]. A 647 kb deletion at 4p16.3 was identified by CMA, which encompassed 6 OMIM genes including ZNF141, PIGG, PDE6B, ATP5I, PCGF3 and MYL5. High-throughput sequencing has identified no pathogenic/likely pathogenic variants consistent with the clinical symptoms. CONCLUSION A rare ring chromosome 4 syndrome was identified by combined chromosomal karyotyping, CMA and high-throughput sequencing. Conventional cytogenetic analysis and genetic testing in combine have enabled the diagnosis in this case.

Objective To analyze the imaging features of solitary pulmonary nodules (SPN).Methods The clinical data and chest imaging features of 55 cases with SPN confirmed by pathology were retrospectively analyzed . Results Of the 55 patients,40 cases (80.00％) were lung cancer and 15 cases (20.00％) were benign lesions . The univariate analysis showed that the age of patients (t=2.972,P=0.004),lobulation sign (χ2 =7.018,P=0.008) and pleural indentation sign (χ2 =4.727,P=0.030) had statistically significant differences in distinguish of the benign and malignant nodules ,but the sex (χ2 =1.760,P=0.185),nodule site (χ2 =0.145,P=0.703),burrs (χ2 =0.555,P=0.456),cavity (χ2 =0.000,P=1.000),nodule size (t=0.608,P=0.546) and other factors had no significant difference.Multivariate Logistic regression analysis showed that age (OR=1.101,P=0.022) and lobulation sign (OR=6.187,P=0.026) were independent influencing factors for judgement of the benign and malig -nant SPN.Conclusion The age of patients,lobulation sign and the pleural indentation sign are related to the benign and malignant SPN .Age and lobulation sign are the independent influencing factors for judgement of the benign and malignant SPN .

OBJECTIVE:To investigate the compatible stability of Levetiracetam(Lev)injection with 3 injections. METHODS:Each Lev injection 1000 mg mixed with 0.9% Sodium chloride injection 100 mL,5% Glucose injection 100 mL or Sodium lactate Ringer's injection 100 mL respectively. Under the light condition,at 25 ℃,the color and clarification degree of mixtures were ob-served at different time points within 24 h after mixing;pH value and the number of insoluble particles were determined. The contents of related impurities(impurity A,B,C,D,2-hydroxypyridine)and Lev in mixtures were determined by HPLC. RESULTS:Under above condition,all mixtures were colorless clear liquid within 24 h;pH value had no significant change (RSD<1%,n=7);the number of insoluble particles was no more than the range stated in Chinese Pharmacopeia(2015 edition). Impurity B and C were not detected;the contents of other impurities were in line with the requirements of foreign pharmacopeia. No marked change was noted for relative content of Lev(RSD<1%,n=7). CONCLUSIONS:After mixing with 0.9% Sodium chloride injection,5% Glucose injec-tion or Sodium lactate Ringer's injection,Lev injection keep stable at 25℃within 24 h under the light condition.

Objective:To detect the proportion of lymphocyte subsets in peripheral blood of the ad-vanced breast cancer patients before and after chemotherapy with docetaxel and thiotepa,as well as the association between the proportion of peripheral blood lymphocyte subsets with the response rate and prog-nosis.Methods:The proportions of lymphocyte subsets (CD3 +T cell,CD3 +/CD4 +T cell,CD3 +/CD8 +T cell,CD3 -/CD16 +56 +NK cell,CD3 +/CD16 +56 +T cell,CD19 +B cell,CD4 +/CD25 +T cell,CD8 +/CD28 -T cell,CD8 +/CD28 +T cell)in the peripheral blood of 86 patients were analyzed with flowcytometry before and after chemotherapy.The result was analyzed in combination with clinico-pathological data.Results:The proportion of regulatory T cells (Treg)after chemotherapy in the disease control patients decreased significantly compared with that of the progressive patients (P=0.034).The difference of the proportions of Treg before and after chemotherapy affected significantly the overall survi-val (OS).The OS of the patients with decreased proportion of Treg was significantly longer than that of the patients with increased proportion of Treg,which was 23.5 and 9.4 months respectively (P<0.05). Conclusion:The patients with decreased proportion of Treg after chemotherapy had higher response rate and better survival benefit.

OBJECTIVETo investigate the genetic cause for a child with developmental delay and congenital heart disease through molecular cytogenetic analysis.

METHODSG-banded karyotyping and chromosomal microarray analysis (CMA) were performed for the patient and his parents.

RESULTSThe proband's karyotype was detected as ring chromosome 3, and a 3q26.3-25.3 deletion encompassing 45 genes has been found with CMA. Testing of both parents was normal.

CONCLUSIONClinical phenotype of the patient with ring chromosome 3 mainly depends on the involved genes. It is necessary to combine CMA and karyotyping for the diagnosis of ring chromosome, as CMA can provide more accurate information for variations of the genome.

Chromosomes, Human, Pair 3 ; genetics ; Cytogenetic Analysis ; methods ; Cytogenetics ; methods ; Developmental Disabilities ; genetics ; Female ; Heart Defects, Congenital ; genetics ; Humans ; Infant ; Karyotyping ; methods ; Ring Chromosomes ; Syndrome

Objective To examine the influence of systemic rehabilitation exercise on social functioning in chronic schizophrenic patients.Methods 60 qualified cases selected from chronic psychiatric inpatient department were randomly divided into two groups according to admission number (AD).30 cases in treatment group accepted hospitalized systemic rehabilitation exercise and 30 controls accepted ordinary treatment for 6 months.Social functio-ning evaluated with SSPI and PSP.Results The total score of SSPI(t=1.322,P=0.256) and PSP(t=1.563,P=0.362) were not significantly higher(P>0.05),The total score of SSPI [(37.44 ±4.33)points,t=2.719,P=0.001]and PSP[(72.14 ±6.86)points,t=3.985,P=0.000]total score in the treatment group were significantly higher than that in the control group(P<0.01).It were significantly higher in the treatment group than before the intervention.The total score of SSPI (t=0.385,P=0.763)and PSP(t=0.682,P=0.827) total score were not significantly higher in the control group(P>0.05).Conclusion Systemic rehabilitation training does influence on social functioning in chronic schizophrenic patients.

ObjectiveTo observe the treatment effects in 48 cases of advanced lung cancer patients,with the immune therapy of the dendritic cells loading of tumor autologous antigen (DCTAA) combining with the cells induced factor of the killer cells(CIK)from the matched umbilical cord blood cells.MethodsThe peripheral blood mononuclear cell(PBMC)from the matched umbilical cord blood cells was seperated,and induced to CIK and DC with some cytokines in vitro, such as CD3McAb, IL-2, IFN-γ IL-1α, etc. After 12 to 15 days, the amplified CIK cells obtained were obtained, with the strict quality control, infused the CIK cells to the patients body back in six times,about(5-8)×109 CIK cells in each time.In the fifth day of the cultivation,DETAA cells were loaded and DCTAA cells were collected in the eighth day,and then hypodermic injection was done. The patient' s general situation after the immune treatment was observed, such as the size of the tumors, clinical symptom score, the quality of life and immune indexes. Karnofsky score, weight, toxic side effects and the patient's survival were also studied.ResultsIn the 48 cases with the DCTAA-CIK treatment, complete remission (CR), partial remission (PR)was 37 cases, the overall remission rate was 77.1％. The improvement rate of clinical symptom scores was from 78.9 ％ to 84.7 ％, the increasing rate of Karnofsky score was 89.6 ％ (43/48). 1-year survival reached to 80.6 ％. There were significant difference in little toxic side effects(P ＜ 0.01). The proportion of CD3, CD4 and NK cells in peripheral blood cells increased significantly (P ＜ 0.01) after DCTAA-CIK cells treatment[(42.21±6.12)％, (24.42±3.01)％, 0.99±0.34, (24.98±3.02) ％; (71.58±7.64) ％, (37.25±2.13) ％, 1.62±0.45, (35.23±4.11) ％](t = 6.34, 5.67, 0.25, 4.43, P ＜0.01).ConclusionThe DCTAA-CIK immune therapy is benefit for advanced lung cancer,not only improve the immune function but also ameliorate the clinical symptoms.

Objective To detect the expression of CK19 in sentinel lymph node for breast cancer and to evaluate its clinical significance.Methods SLNs of 30 patients with breast cancer were successfully detected with methylene blue,both SLN and ALN were examined by hematoxylin and eosin staining ( HK staining). The expression level of CK19 in SLNs were assessed by RT-PCR and Western Blot for mRNA and Protein respectively. Results Detection positive rate of SLN melastases was 26. 67% (8/30) by HE staining,and 1 case of false negative. Through RT-PCR,12 cases,including all the positive cases detected by routine pathological examination,were detected to be positive in the expression of CK19mRNA, with a positive rate of 40. 0% ( 12/30) , and a positive rate of 36. 67% (11/30) for CK19 was observed by Western Blot There was a significant difference between RT-PCR or Western Blot methods and routine pathological examination ( P < 0.05 ) for the detection efficiency of SI.Ns melastases. Conclusions CK19rnRNA may be a potential tumor marker for detecting micrometastasis in SLNs of breast cancer. The combined utilization of locating SLNs and detecting CK19 mRNA expression by RT-PCR instead of histopathological examination can greatly enhance the detection efficiency of SLN micrometastasis of breast cancer.