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Background: Retinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of peripheral field vision (tunnel vision), and eventual loss of central vision. However, a genetic cause cannot be determined in approximately 60% of cases. Case presentation: Two non-consanguineous Yi minority ethnic group families who have a 6.4-year-old boy and a 0.5-year-old boy, respectively, were recruited for genetic diagnosis. Here, we used whole-exome sequencing to detect mutations in the genes of the probands of the retinitis pigmentosa families, and Sanger sequencing to confirm the causal mutations identified by whole exome sequencing. In addition, we report two cases with retinitis pigmentosa caused by RDH12 (c.524C > T) and PRPF4 (c.1273G > A) pathogenic mutations. Conclusions: These results might extend the mutation spectrum of known retinitis pigmentosa genes and give these two Yi minority ethnic group families from Yunnan more precise genetic counseling and more specific prognoses. [ABSTRACT FROM AUTHOR]

Objective: To analyze 43 leukemia genes in children with acute lymphoblastic leukemia (ALL) in Yunnan province, and provide the basis for the diagnosis and treatment of children with ALL in this area., Methods: The clinical data of 428 children with newly diagnosed ALL in Yunnan area from January 2015 to December 2020 were retrospectively analyzed. Multiple nested PCR technology was used to detect 43 common leukemia genes., Results: Among the 428 children with ALL, 159 were positive for leukemia genes, with a positive rate of 37.15% (159/428), and a total of 15 leukemia genes were detected. Among the 159 leukemia gene-positive children, ETV6-RUNX1 + accounted for 25.79% (41/159), followed by E2A-PBX1 + and BCR-ABL + , accounting for 24.53% (39/159) and 23.27% (37/159) respectively. MLL + accounted for 6.29% (10/159), WT1 + accounted for 4.40% (7/159), IKZF1 gene deletion and CRLF2 + accounted for 3.77% (6/159) respectively. The positive rate of MLL (46.15%) was the highest in ＜1-year old group, the positive rate of ETV6-RUNX1 (10.56%) was the highest in 1-10-year old group, and BCR-ABL + rate (23.65%) was the highest in >10-year old group. The distribution of leukemia genes in different age groups was statistically significant ( P <0.05)., Conclusion: The most common fusion gene of children with ALL in Yunnan is ETV6-RUNX1 , followed by E2A-PBX1 and BCR-ABL .

Objectives: To identify risk factors for carbapenem-resistant Klebsiella pneumoniae (CRKP) infection and death in hospitalized children in pediatric hospitals, and to provide a basis for the prevention and control of such infection., Methods: This is a matched case-case-control study. The medical data of 81 children with CRKP infection and 81 children with carbapenem-sensitive Klebsiella pneumoniae (CSKP) infection who were hospitalized in Kunming Children's Hospital from January 2019 to October 2021 were retrospectively analyzed. A total of 162 children without CRKP or CSKP infection were enrolled as the control group. The association of underlying disease, previous hospitalization exposure, and current hospitalization exposure with CRKP infection and death was identified., Results: Compared with the control group, there was a higher correlation between the history of hospitalization in the past 3 months and CRKP and CSKP infections ( OR =14.25 and 10.07 respectively, P <0.01). The use of carbapenem in the past 3 months ( OR =16.54, P <0.01) and central venous catheterization during the current hospitalization ( OR =33.03, P <0.01) were risk factors for CRKP infection. The use of carbapenem in the past 3 months ( OR =28.33, P <0.01) and empirical antibiotic use during the current hospitalization ( OR =14.5, P <0.01) were risk factors for death of the children with CRKP infection., Conclusions: The history of hospitalization and the history of treatment with carbapenems in the past 3 months and invasive procedure after admission are leading influencing factors for CRKP infection and prognosis. It is necessary for pediatric hospitals to conduct CRKP screening on admission, standardize antibiotic use, and strengthen nosocomial infection surveillance, so as to decrease the incidence of CRKP infection.

Cd1-xZnxTe:Cu Thin films were prepared by co-evaporation method. X-ray Fluorescence Spectrometry (XRF), scanning electron microscope(SEM), UV-Vis transmission spectra, thermal probe, four-probe method, step profiler and X-ray diffractometer (XRD) were used to investigate the composition, structure, morphology, optical and electrical properties of Cd1-x ZnxTe:Cu thin films with different doping concentration. The results show that the resistivity of 10% copper doped Cd1-x ZnxTe films increased several magnitude and the conductive type changed from p-type to n-type after annealing. The 20% cu-doped Cdl, Zn,Te films had not obvious change in conductive type and electrical resistivity after annealing and they exhibit good surface morphology. The transmissivity of 30% cu-doped Cd1-x, ZnxTe films decreased seriously below 10% after annealing, which indicate that they are not suitable to be the top cell materials in tandem structure. The 20% and 30% cu-doped Cd1-x Zn, Te films were both p-type conductivity.

Objective: To determine the frequency distribution and antibiotic resistance of pathogens isolated from the cerebrospinal fluid samples of children with bacterial meningitis (BM) and to provide a basis for the timely and effective treatment of childhood BM., Methods: Retrospective analysis was performed on pathogens isolated from 5097 cerebrospinal fluid samples collected from children in Kunming Children's Hospital between January 2008 and June 2012, as well as drug sensitivity test results. Kirby-Bauer antibiotic testing was used to analyze the sensitivity of these pathogens to commonly used antibiotics., Results: A total of 116 pathogen strains were detected from the 5097 cerebrospinal fluid samples, including 77 (66.4%) Gram-positive strains, 30 (25.9%) Gram-negative strains, and 9 (7.8%) fungal strains, with a positive rate of 2.28%. The six most frequently isolated pathogens were Staphylococcus epidermidis (32 strains, 27.6%), Streptococcus pneumoniae (15 strains, 12.9%), Escherichia coli (15 strains, 12.9%), Staphylococcus haemolyticus (9 strains, 7.8%), Cryptococcus neoformans (8 strains, 6.9%) and Staphylococcus aureus (6 strains, 5.2%). Coagulase-negative staphylococci was the predominant pathogen in neonates and young infants with BM, and its sensitivity rates to penicillin, erythromycin and clindamycin were lower than 40%. Streptococcus pneumoniae had a penicillin sensitivity rate of 13.4%, while sensitivity rates to erythromycin and clindamycin reached 60.0%. No Staphylococcus and Streptococcus pneumoniae pathogens resistant to vancomycin were found. Gram-negative bacilli had relatively high sensitivity rates to imipenem, meropenem, cefoperazone/sulbactam and cefepime., Conclusions: Gram-positive cocci are the predominant pathogens for childhood BM over the past five years. The detected pathogens develop high resistance to commonly used antibiotics. To prevent misdiagnosis, careful attention should be paid to BM caused by Cryptococcus neoformans.

Objective: To prepare small interfering RNA (siRNA) targeting survivin for inhibition of endogenous survivin gene expression in Hela cell line and evaluate its effect on promoting Hela cell apoptosis., Methods: The recombinant plasmid pshRNA-survivin-1 and pshRNA-survivin-2 were constructed and transfected into Hela cells, in which the expression level of survivin was determined by immunofluorescence staining and survivin gene transcription detected by semi-quantitative RT-PCR., Results: Introduction of the plasmids pshRNA-survivin-1 and pshRNA-survivin-2 into Hela cells resulted in efficient and specific inhibition of survivin expression as demonstrated by immunofluorescence staining. Semi-quantitative RT-PCR showed that mRNA transcription of survivin gene was reduced. In contrast, the control plasmid did not exhibit any inhibitory effect on the protein expression and mRNA transcription of survivin gene. PI-Annexin V staining indicated an apoptosis rate of the transfected Hela cells of (36.02-/+2.12)% (P<0.01) and (35.29-/+2.02)% (P<0.01), respectively., Conclusion: The prepared siRNA targeting survivin gene is capable of inducing marked inhibitions of survivin protein expression and RNA transcription and significant enhancement of apoptosis in Hela cells, which shed light on a new strategy in gene silence therapy targeting survivin.

As HuGM-CSF and huIL-6 seem to have synergistic and complementary actions, researchers have proposed that fusion proteins incorporating these two cytokines could show increased biological activity, especially in terms of hematopoietic function. Here, we sought to obtain a functional GM-CSF/IL-6 fusion protein and to investigate its biological activities in vitro. A novel construct encoding a fusion protein of huGM-CSF (9-127) and IL-6 (29-184) was generated in the pBV220 expression vector by step-by-step cloning. Amino acids 1-8 of huGM-CSF and amino acids 1-28 of huIL-6 were deleted by PCR. The mutant huGM-CSF (9-127) and huIL-6 (29-184) cDNAs were linked via a linker sequence encoding 15 amino acid residues (G-G-S-G-S)3. Direct sequencing was used to confirm the validity of the desired construct, and the fusion protein was expressed in Escherichia coli host strain BL21 (DE3) in the form of inclusion bodies (IBs). The expression level was more than 25% of the total cell lysate, and a novel purification and refolding strategy was used to isolate the fusion protein product. Inclusion bodies were purified by Q Sepharose H.P. ion exchange in 8 mol/L urea, followed by in situ refolding by Sephacryl S-200. The renatured fusion proteins were obtained at a purity of >95%, and the strategy of refolding on the gel filtration column was found to be efficient, with a relative refolding rate of 80%. This entire refolding and purification procedure could be performed within one day and may prove applicable to large-scale purification and refolding of recombinant proteins from IBs in E. coli. This new method was used to obtain huGM-CSF (9-127)/IL-6 (29-184) fusion protein with high purity and biological activity. MTT assays in TF-1 and B9 cell lines showed that the specific biological activity of huGM-CSF was 1.14+/-0.10 x 10(8) U/mg, and that for huIL-6 was 1.89+/-0.11 x 10(7) U/mg. The fusion protein exhibited enhanced huGM-CSF, but similar huIL-6 biological activities compared with those of either GM-CSF or IL-6 alone. This suggests that our novel huGM-CSF (9-127)/IL-6 (29-184) fusion protein may hold future promise as a therapeutic agent.