[Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication].

OBJECTIVE: To explore the characteristics of a fetus with chromosome 1p36 deletion syndrome and 3p26.3p25.2 duplication. METHODS: A pregnant woman who had attended the Genetic Counseling Clinic of Linyi People's Hospital on February 22, 2022 and her fetus were selected as the study subjects. Clinical data were collected. Chromosomal karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) were carried out for the prenatal diagnosis. RESULTS: Ultrasonography at 24th gestational week revealed that the fetus had ventricular septal defect, single umbilical artery, and slight widening of left lateral ventricle (12 mm). The woman was found to have a karyotype of 46,XX,t(1;3)(p36.22;p25.2), and the result of FISH was t(1;3)(3pter+,1qter+;1pter+,3qter+). The fetus was found to have a karyotype of 46,X?,add(1)(p36), and CMA confirmed that it has a 9.0 Mb deletion at 1p36.33p36.22 and a 12.6 Mb duplication at 3p26.3p25.2. Combining the maternal karyotype, the molecular karyotype of the fetus was determined as 46,X?,der(1)t(1;3)(p36.22;p25.2)mat.arr[hg19]1p36.33p36.22(849467_9882666)×1, 3p26.3p25.2(61892_12699607)×3, with the former known to be associated with 1p36 deletion syndrome. CONCLUSION: The fetus was diagnosed with 1p36 deletion syndrome, and its 1p36.33p36.22 deletion and 3p26.3p25.2 duplication had both derived from the balanced translocation carried by its mother.

[Genetic analysis of a child with mosaicism Turner syndrome].

OBJECTIVE: To explore the genetic characteristics of a child with mosaicism Turner syndrome. METHODS: A child who had presented at Linyi People's Hospital on May 19, 2022 due to short stature was selected as the study subject. The child was subjected to combined chromosomal karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). RESULTS: The child was found to have a 46,X,i(X)(q10)[94]/45,X[6] karyotype. The result of FISH was nucish(XYpter,XYqter)1[78]/(XYpter)1,(XYqter)3[122]. CMA result for her peripheral blood sample was arr[hg19]Xp22.33p11.1(168551_58526888)×1, and that for her oral mucosal cells was arr[hg19]Xp22.33p11.1(168551_58526888)1-2,Xq11.2q28(63000001_155233098)×2-3. By integrating the above findings, her molecular karyotype was determined as mos 46,X,i(X)(q10)[94]/45,X[6].arr[hg19]Xp22.33p11.1(168551_58526888)×1-2,Xq11.2q28(63000001_155233098)×2-3.nucish(XYpter)1,(XYqter)3[122]/(XYpter,XYqter)1[78], which has indicated mosaicism Turner syndrome. CONCLUSION: The 46,X,i(X)(q10)/45,X mosaicism probably underlay the pathogenesis in this child.

p100 functions as a metastasis activator and is targeted by tumor suppressing microRNA-320a in lung cancer.

BACKGROUND: Lung cancer is among the most frequently diagnosed types of cancer worldwide, with high morbidity and mortality. Metastasis accounts for the deadliest and most poorly understood feature of lung cancer. Herein, we demonstrate that SND1 (also known as p100) acts as a candidate metastasis activator and is targeted by microRNA-320a (miR-320a) in lung cancer cells. METHODS: p100 expression in lung cancer cell lines and tissues was determined by quantitative real time-PCR and Western blot. RNA interference was applied to investigate the functions of p100 in lung cancer cell migration, reflected by wound healing and transwell assays. Luciferase reporter assay, quantitative real time-PCR, and Western blot were finally used to examine miR-320a targeting of p100 in lung cancer cells. RESULTS: p100 expression was significantly higher in lung cancer cell lines and tissues compared to normal human bronchial epithelial cells and matched normal lung tissues. Downregulation of p100 by RNA interference obviously inhibited lung cancer cell migration in vitro. Moreover, we validated p100 as a direct target of miR-320a, a tumor suppressing microRNA repressing lung cancer cell migration. Finally, we showed an inversely expressed correlation between p100 and miR-320a in tested lung cancer tissues and cell lines, both of which acted as important prognostic factors in lung cancer. CONCLUSION: Our findings identify that p100, targeted by tumor suppressing miR-320a, is a key metastasis activator in lung cancer, and both p100 and miR-320a could be considered as biomarkers for prognosis of lung cancer patients.

Serum hydrogen sulfide as a novel marker predicting bacterial involvement in patients with community-acquired lower respiratory tract infections.

BACKGROUND AND OBJECTIVE: Endogenous hydrogen sulfide (H2S) may be involved in the pathogenesis of systemic inflammation. It was investigated whether serum H2S levels differed among patients with community-acquired pneumonia, those with exacerbations of COPD or control subjects, and whether H2S may be used as a surrogate marker of the need for antibiotic treatment. METHODS: Serum H2S levels were measured in 129 patients with pneumonia or COPD exacerbations and in 72 healthy control subjects. RESULTS: The mean serum H2S concentration was 36% lower in patients with pneumonia (22.7 +/- 14.6 micromol/L) than in control subjects (35.4 +/- 5.3 micromol/L) (P < 0.01). Serum H2S concentration did not differ between patients with acute exacerbations of COPD (33.8 +/- 18.6 micromol/L) and control subjects. Within the COPD group, patients with Anthonisen type 1 exacerbations had a lower serum H(2)S concentration (22.5 +/- 11.6 micromol/L) than control subjects, and those with type 3 exacerbations had a higher serum H2S concentration (54.2 +/- 21.3 micromol/L) than control subjects. There was no difference between patients with type 2 exacerbations (41.7 +/- 8.4 micromol/L) and control subjects. In patients requiring antibiotics, serum H2S concentration was 41% lower than in those not requiring antibiotics. The area under the receiver operating characteristic curve for H(2)S as a surrogate marker of the need for antibiotics was 0.862 (95% confidence interval: 0.805-0.919, P < 0.01). Serum H2S levels were inversely correlated with serum CRP levels (r = -0.337, P < 0.01). CONCLUSIONS: Serum H2S levels may be used as a marker in lower respiratory tract infections. Further studies are required to validate the role of serum H2S levels in guiding antibiotic selection.