[Clinical phenotype analysis of 6 cases of TTC21B gene related nephronophthisis].

Objective: To analyze the clinical characteristics of 6 children with TTC21B-related nephronophthisis to provide reference for early clinical diagnosis. Methods: The general condition, clinical manifestations, laboratory tests and other clinical data of 6 children from 4 families diagnosed with nephronophthisis by genetic testing in Shanghai Children's Hospital from January 2015 to December 2020 were analyzed retrospectively. Results: A total of 6 children (3 males and 3 females) developed proteinuria and progressive renal dysfunction in early infancy. The onset age of proteinuria was 18 (6, 25) months. The age at the onset of renal impairment was 22 (10, 36) months. All 6 children progressed to end-stage renal disease (ESRD) within 10 (4, 65) months of onset. Five children had hypertension, 3 children with abnormal liver function, 2 children with visceral translocation and 1 child with growth retardation. The genetic results suggested that all children carried variations TTC21B gene p.C518R. Conclusions: Children with TTC21B gene p.C518R nephronophthisis had proteinuria and progressed to ESRD at the early stage of life. These nephronophthisis patients commonly presented with liver and renal dysfunction.

[Association of GMF-ß expression with Ki-67 and its significance in the prognostic evaluation of astrocytoma].

Objective: To clarify the correlation of the expression of glia maturation factor-ß (GMF-ß) with Ki-67 in astrocytoma, and to investigate the prognostic implications of combined detection of GMF-ß and Ki-67. Methods: One hundred and forty human astrocytoma samples (WHO Ⅱ-Ⅳ grade) were collected at Southwest Hospital, Army Medical University (the Third Military Medical University), China from 2006 to 2009. Clinicopathological information and 3-year follow-up data were collected. Expression of GMF-ß and Ki-67 was detected by single and double immunohistochemical staining, then the association of GMF-ß expression with Ki-67 and its significance in prognostic evaluation of astrocytoma were statistically analyzed. Results: GMF-ß expression in astrocytoma cells was correlated to both tumor grade and Ki-67 (both P<0.05); Kaplan-Meier survival analysis showed that GMF-ß and Ki-67 expression were negatively correlated to the 3 year-survival rates, respectively (both P<0.01). Further analysis demonstrated that the two factors were co-influenced on survival, showing a trend of "GMF-ßlow Ki-67low>GMF-ßhigh Ki-67low>GMF-ßlow Ki-67high>GMF-ßhigh Ki-67high" in 3-year survival rate with significant intergroup differences (P<0.05, P<0.01). Conclusions: GMF-ß expression is positively associated with Ki-67 in astrocytoma. Combined detection of GMF-ß and Ki-67 can predict prognosis of patients with glioma.

[The value of MRI in early diagnosis of dysbaric osteonecrosis].

Objective: To investigate the value of MRI in the early diagnosis of diagnosis of dysbaric osteonecrosis. Methods: Labor hygiene investigation and occupation health were examined on 52 high pressure operating personnel, were selected for the examination of both shoulders, hips and knees with X-ray and CT scan. Results: The cystic sign in dysbaric osteonecrosis as an important imaging feature, which perform in the MRI examination for T1W I sequence showed low or slightly low signal and T2W I sequence showed high signal, and X-ray and CT have a lower detection rate than MRI. The Kappa consistency test showed a high consistency with the two methods. At the same time MRI examination also can discover the bone marrow cavity necrosis early pathological change. Conclusion: MRI is an effective method for the diagnosis of early dysbaric osteonecrosis, which can improve the early diagnosis rate of dysbaric osteonecrosis.

[Clinical features and expression of PLA(2)R in renal tissue with idiopathic membranous nephropathy in children].

Objective: To explore the clinical features and expression of PLA(2)R in renal tissue of children with idiopathic membranous nephropathy. Methods: Retrospective study was performed in patients with membranous nephropathy diagnosed through renal biopsy and the follow-up time was at least half a year in Shanghai Children's Hospital from January 2010 to February 2017. We compared their clinicopathological and pathological findings of IMN. Indirect immunofluorescence assay was used to detect glomerular PLA(2)R expression. We analyzed the differences of clinical features between the PLA(2)R negative and positive groups. T test, rank-sum test and Fisher exact test were used. Results: Eleven cases had hematuria and proteinuria, 9 cases presented with nephrotic syndrome, and 2 cases showed isolated proteinuria. Of the 22 cases of children with IMN, 16 patients had complete remission (complete remission rate was 72.8%), and 22 patients had partial remission. The renal function of all cases was normal and in all cases the estimated glomerular filtration rate was > 90 ml/(min·1.73m(2)). Of 22 cases with IMN, 7 cases were PLA(2)R-positive in renal tissue and 15 cases were PLA(2)R-negative. The age of positive group (10 years old) was older than the negative group (6 years old)(Z=-2.483, P<0.05) and the time of positive group (6 months) for urine protein to return to negative was longer than the negative group (2.5 months) through treatment. These differences were significantly different (Z=-2.072, P<0.05). Conclusions: Hematuria and proteinuria can be found in most children with idiopathic primary membranous nephropathy. Prednisone combined with immunosuppressant was effective. The positive rate of PLA(2)R in renal tissue of children with IMN was about 32%. The age of PLA(2)R positive group was older than the negative group. And the time of urine protein turning to negative in positive group was longer than that in the negative group.

Experimental demonstration of high sensitivity refractive index sensing based on magnetic plasmons in a simple metallic deep nanogroove array.

A high-performance wide-angle refractive index sensor based on a simple one-dimensional (1D) metallic deep nanogroove array with a high aspect ratio is experimentally fabricated and demonstrated. The 1D deep groove array is featured by the excitation of magnetic plasmon (MP), referring to an effective coupling of incident electromagnetic waves with a strong magnetic response induced inside the deep grooves. Utilizing the MP resonances that are extremely sensitive to the surrounding dielectric medium, we successfully achieve a refractive index sensitivity (RIS) up to ∼1300 nm/RIU, which is higher than that of most experimentally designed plasmonic sensors in the infrared region. Importantly, benefiting from angle-independent MP resonances with strong confinement of the magnetic field inside the deep grooves and strong electric field localization at the groove openings, we demonstrate wide-angle sensing capability valid in a broadband infrared region with an excellent linear dependence on the change of refractive index. Such a MP-based sensor, together with its simple 1D flat nature and ease of fabrication, has great potential for the practical design of high sensitive, cost-effective and compact sensing devices.

[Expression profiles of long non-coding RNAs in human liver cell line LO2 with stable expression of hepatitis B x gene].

OBJECTIVE: To investigate the differential expression profiles of long non-coding RNAs (lncRNAs) in human liver cell line LO2 with stable expression of hepatitis B x (HBx) gene, and to screen out the lncRNAs which play an important role in HBV-related liver cancer. METHODS: The lncRNA microarray was used to establish the differential expression profiles of lncRNAs, and the methods such as scatter plots and cluster analysis were used to obtain the HBx-related lncRNAs with differential expression. The qRT-PCR was used to verify some lncRNAs with differential expression. The t-test was used to compare the expression of lncRNAs between the two microarray groups, and hierarchical cluster analysis was used for the original data of lncRNAs with differential expression. RESULTS: Compared with the control group transfected with blank plasmids (L02/pcDNA3.0), LO2/HBx cells had 323 lncRNAs with > 2-fold upregulation and 421 lncRNAs whose expression was reduced by more than 50% (P < 0.05). The results of qRT-PCR verified 4 upregulated lncRNAs (TCONS_00006195, ENST00000557524, NR_037597, and ENST00000539975) and 3 downregulated lncRNAs (ENST00000508424, ENST00000447433, and uc001lva.4), which were consistent with the results of microassay. CONCLUSION: HBx-related lncRNAs are successfully screened out, which lays a foundation for further investigation of the role of lncRNAs in the pathogenesis of liver cancer.

A study on dysbaric osteonecrosis in caisson workers.

PURPOSE: To study the effects of exposure to compressed air on tunnel workers' health and to investigate the prevalence of dysbaric osteonecrosis (DON) in caisson workers. METHODS: 128 tunnel workers were divided into the exposed group (n = 58) and the control group (n = 70), and their shoulders, hips and knees were examined with X-ray, computed tomography (CT) and magnetic resonance imaging (MRI). RESULTS: 1) 34.5% of the exposed group were diagnosed with DON based on the national diagnostic criteria of decompression sickness. 2) The incidental difference of skeletal cystic changes between the exposed group and the control group was highly statistically significant (p < 0.01). 3) CT and MRI examination could detect early onset of DON lesions, and the cystic changes shown in CT and abnormal signals in MRI were diagnostic indicators in cases. CONCLUSION: Cystic changes in CT and abnormal signals in MRI are key imaging findings of early DON.

Calculating and modeling the exchange energies of homonuclear and heteronuclear alkali dimers based on the surface integral method.

The exchange energies of all homonuclear and heteronuclear alkali dimers are calculated based on the surface integral method. These results are generally in good agreement with both ab initio calculations and experimental results where available. It is also shown that the exchange energies could be fitted by an analytical expression of AR(b) exp(-cR). b and c can be calculated by two simple formulas that are only related to the ionization energies of the constituent atoms. A is the only parameter in this expression. More interestingly, it is found that the parameter A for the heteronuclear dimers could be approximated by a combining rule.

A study on oxidative stress in lead-exposed workers.

To explore the possible oxidative stress induced by lead, heparinized whole blood and urine of 66 secondary smelter lead workers (46 for Comet assay) and 28 controls were collected. The concentrations of blood lead (BPb) and urinary lead (UPb) and alpha-aminolevulinic acid (alpha-ALA), indices of lead exposure level of the body, were determined. Malondialdehyde (MDA) concentrations and superoxide dismutase (SOD) activity of plasma were also measured. Single-cell gel (SCG, Comet assay) was used to measure the DNA damage of peripheral blood cells. There was a positive correlation between the presence of Pb in blood and significant increases in MDA levels and SOD activity. Alcohol consumption and smoking with increased exposure to Pb was associated with enhanced DNA damage. A positive correlation was found between MDA and DNA damage.