[A study on the distribution characteristics of peripheral retinal defocus in children and adolescents].

Objective: To explore the distribution characteristics of peripheral retinal defocus in children and adolescents. Methods: This cross-sectional study included 500 individuals aged 3 to 18 years, who visited the People's Hospital of Lincang, the First Affiliated Hospital of Dali University and Dali Ophthalmology Hospital between January and December 2021. Data of the right eye of each participant was analyzed. There were 226 males (45.20%) and 274 females (54.80%), with an average age of (10.79±3.79) years. All participants underwent post-cycloplegic refraction, optical biometry, and intraocular pressure measurement to obtain spherical equivalent, average corneal curvature, axial length, and intraocular pressure. Multispectral refraction topography was performed to obtain topographic maps and values at various field angles and orientations of peripheral retinal defocus. Based on multispectral refraction topography, peripheral retinal defocus values were categorized as crater type, hemilateral upturn type, saddle type, and relatively flat type. The distribution of different refractive states was analyzed. Results: The spherical equivalent of the 500 participants was(-1.51±2.61) D, axial length was (24.10±1.28) mm, and average corneal curvature was (43.20±1.22) D. Among the 500 eyes, 382 exhibited hyperopic peripheral retinal defocus values, with 316 eyes (82.72%) being myopic. Myopic peripheral retinal defocus values were observed in 118 eyes, with 15 eyes (12.72%) being myopic. Among different types of peripheral retinal defocus values, 112 eyes (22.4%) exhibited a crater type, 153 eyes (30.6%) exhibited a hemilateral upturn type, 107 eyes (21.4%) exhibited a saddle type, and 128 eyes (25.6%) exhibited a flat type. The proportion of myopia was 82.14% (92 eyes), 69.28% (106 eyes), 60.75% (65 eyes), and 3.90% (5 eyes), respectively. The peripheral retinal defocus values at 15°, 30°, and 45° were (0.01±0.08) D, (0.06±0.21) D, and (0.20±0.37) D, respectively. The peripheral retinal defocus values at temporal, inferior, nasal, and superior locations were (0.58±0.69) D, (0.52±0.63) D, (0.21±0.64) D, and (-0.26±0.67) D, respectively. Notably, the superior primarily manifested as myopic, while the others were predominantly hyperopic. Conclusions: Approximately three-fourths of children and adolescents exhibit hyperopic peripheral retinal defocus values, with a higher prevalence of myopia in this subgroup. The hyperopia peripheral retinal defocus value increases with the distance from the retina to the macula. The peripheral retinal defocus values between superior and inferior, nasal and temporal locations are asymmetrical, with the temporal hyperopic peripheral retinal defocus value being most prominent and the superior myopic peripheral retinal defocus value being most evident.

A Dosimetric Comparative Study of Carbon-Ion Radiotherapy Versus X-ray Volumetric Modulated Arc Therapy for Stage III Non-Small-Cell Lung Cancer.

BACKGROUND: Compared to photon beam, carbon-ion radiotherapy (CIRT) has both physical and biological advantages. AIM: To examine whether two-dimensional (2D) CIRT is dosimetrically superior to photon beam volume-modulated arc therapy (VMAT) in protecting the normal tissues for stage III non-small-cell lung cancer (NSCLC). SUBJECTS AND METHODS: A retrospective study was conducted. Thirteen patients with stage III NSCLC treated in our center with curative CIRT and a sham photon beam VMAT treatment planning with the same normal tissue dose constraints were included for analysis. Target dose distributions and the homogeneity index (HI) within the planning target volumes were compared. RESULTS: Both CIRT and VMAT plans have good tumor coverage with no significant differences in D98, D95, and D50 of Planning target volume 1 (PTV1) between the two plans. The HIs between the two plans are similar. The HI of PTV2 is superior in the CIRT plan (CIRT vs. VMAT: 0.08 vs. 0.16, P < 0.05). In general, CIRT results in a lower dose of the organ-at-risk (OAR) than the photon plans. The V5, V10, V20, V30, V40, and Dmean of the contralateral lung in the CIRT plan are significantly lower than that of the photon VMAT. For the ipsilateral lung, the V5 of CIRT is significantly lower. The CIRT also had significantly lower spinal cord Dmax, esophageal Dmean and V50, V10 and V30 of bone, and V50 of the trachea and bronchial tree. CONCLUSIONS: Compared with photon VMAT, 2D-CIRT using the passive beam scanning technique significantly reduces the radiation dose to the OARs in curative radiotherapy of stage III NSCLC, suggesting a better protection of the normal tissues.

The single nucleotide polymorphism rs11643718 in SLC12A3 is associated with the development of diabetic kidney disease in Chinese people with type 2 diabetes.

AIMS: To examine the association between 24 literature-based single nucleotide polymorphisms and diabetic kidney disease in Chinese people with type 2 diabetes. METHODS AND RESULTS: Twenty-four candidate diabetic kidney disease-susceptible single nucleotide polymorphisms were genotyped in 208 participants with type 2 diabetes and diabetic kidney disease and 200 participants with type 2 diabetes without diabetic kidney disease (case and control groups, respectively), together with 206 healthy participants using MassARRAY. Rs11643718 in the SLC12A3 gene was associated with diabetic kidney disease in the recessive model after adjusting for confounding factors, such as age and gender (adjusted odds ratio 2.056, 95% CI 1.120-3.776; P = 0.020). Meta-analyses further confirmed the association (P = 0.002). In addition, participants with the GG genotype had worse renal function and more albuminuria than those with the AA+AG genotype (P < 0.05). Renal section immunohistochemistry was conducted in participants with type 2 diabetes, diabetic kidney disease and AA+AG or GG genotypes and in participants with glomerular minor lesions. Together with data from the Nephroseq database, it was shown that the abundance of SLC12A3 was reduced in patients with the GG genotype, while elevated expression of SLC12A3 was associated with better renal function. In addition, rs10951509 and rs1345365 in ELMO1, which were determined to be in high linkage disequilibrium by SHEsis software, were also associated with diabetic kidney disease (adjusted P = 0.010 and 0.015, respectively). CONCLUSIONS: The G allele and GG genotype of SLC12A3 rs11643718 are associated with the development of diabetic kidney disease in a Chinese population with type 2 diabetes.

[Clinical analysis of golimumab in the treatment of severe/refractory cardiovascular involvement in Behcet syndrome].

OBJECTIVE: To explore the effectiveness and safety of golimumab in the treatment of severe/refractory cardiovascular Behcet syndrome (BS). METHODS: We retrospectively analyzed the clinical data of nine patients diagnosed with severe/refractory cardiovascular BS and treated with golimumab from February 2018 to July 2020 in Peking Union Medical College Hospital. We analyzed levels of erythrocyte sedimentation rate (ESR) and high-sensitivity C-reactive protein (hsCRP), imaging findings, and the doses of glucocorticoids and immunosuppressive agents during the period of combined treatment with golimumab. RESULTS: Nine patients were enrolled, including 8 males and 1 female, with a mean age and median course of (37.0±8.6) years and 120 (60, 132) months, respectively. Seven patients presented with severe aortic regurgitation combined with other cardiovascular involvement secondary to BS. Two patients presented with large vessel involvement, including multiple aneurysms and vein thrombosis. Prior to golimumab treatment, seven patients were treated with glucocorticoids and multiple immunosuppres-sants [with a median number of 3 (1, 3) types] while still experienced disease progression or elevated inflammation biomarkers during postoperative period. Eight patients with disease progression, uncontrolled inflammation and history of severe postoperative complications required effective and fast control of inflammation during perioperative period. One patient had adverse reaction with tocilizumab and switched to golimumab during perioperative period. The patients were treated with golimumab 50 mg every 4 weeks, along with concomitant treatment of glucocorticoid and immunosuppressants. After a median follow-up of (16.3±5.6) months, all the patients achieved clinical improvement. Vascular lesions were radiologically stable and no vascular progressive or newly-onset of vascular lesions was observed. The eight patients who experienced cardiac or vascular operations showed no evidence of postoperative complications. The ESR and hsCRP levels decreased significantly [16.5 (6.8, 52.5) mm/h vs. 4 (2, 7) mm/h, and 21.24 (0.93, 32.51) mg/L vs. 0.58 (0.37, 1.79) mg/L (P < 0.05), respectively]. The dose of prednisone was tapered from 35 (15, 60) mg/d to 10.0 (10.0, 12.5) mg/d. No prominent adverse reactions were observed. CONCLUSION: Our study suggests that golimumab is effective in the treatment of severe/refractory cardiovascular BS. Combination immunosuppression therapy with golimumab contributes to control of inflammation, reduction of postoperative complications and tapering the dose of glucocorticoids or immunosuppressants.

[Clinical value of holographic multimodal real-time three-dimensional navigation technology in the surgical location of pulmonary lesions].

Objective: To investigate the clinical value of holographic multimodal real-time three-dimensional navigation (3D-HMRN) technology for navigation and localization of pulmonary micro lesions. Methods: A total of 152 patients who underwent thoracoscopic partial resection of small pulmonary nodules in the Department of Thoracic Surgery of the First Medical Center of Chinese PLA General Hospital from June 2017 to December 2019 were retrospectively collected and were divided into two groups by computer random number. The experimental group consists of 76 patients (31 males and 45 females) with a mean age of (47±17) years. CT scan in lateral position navigation mode and 3D reconstruction of the surgical area were performed on all patients. Before the operation, holographic multimodal real-time 3D navigation technology was used to guide the puncture of the lesion. After the operation was completed, the intraoperative CT was used to verify the location of the puncture and determine the accuracy and error rang of the puncture. The control group consists of 76 patients (34 males and 42 females) with a mean age of (50±19) years. Intraoperative CT positioning was directly subjected to the patients. And then, the localization data of the two groups were compared and statistically analyzed. Results: Seventy-six cases of positioning puncture using navigation technology, the first success rate was 97.4%, the error was (3.9±0.9) mm, and the average operation time was (4.4±1.2) min; while the success rate of one-time CT positioning during routine surgery was 98.7%, the error was (3.5±1.0) mm, and the average operating time was (10.7±2.6) min. Compared with intraoperative CT positioning, the success rate and positioning accuracy of 3D-HMRN were not statistically significant (both P>0.05), however the operation time was significantly shortened (P<0.01). Conclusion: The holographic multi-modal real-time 3D navigation technology saves time and has accurate positioning, which may be used as an effective method for localization of pulmonary micro nodules during surgical treatment.

[Comparative analysis of serum glutamate and gamma-aminobutyric acid levels in patients with bipolar depressive disorder and major depression disorder].

Objective: To investigate the difference of serum glutamate (Glu) and gamma- aminobutyric acid (GABA) levels between depressive patients and bipolar disorder patients with depressive episodes. Methods: From May 2018 to March 2019, forty-seven patients with depression (depression group) and 45 patients with bipolar depressive episode (bipolar depression group) were selected from the department of psychiatry, the First Affiliated Hospital of Jinan University, and 41 healthy controls (healthy control group) were simultaneously recruited from the community. The subjects' depression and anxiety were assessed by 17 items of Hamilton depression scale (HAMD-17) and Hamilton Anxiety Scale (HAMA). The serum levels of Glu, GABA and Glu decarboxylase (GAD) were detected by enzyme-linked immunosorbent assay (ELISA) . Results: The serum Glu level ( (36±7) mg/L, (37±7) mg/L vs (28±4) mg/L, F=10.97, P<0.01) and Glu/GABA ratio (5.77±0.35, 8.18±0.24 vs 3.35±0.33, F=37.68, P<0.01) in depression and bipolar depression groups were higher than those of healthy control group, while the GABA level ((6.1±0.7) µmol/L,(4.1±0.8) µmol/L vs (8.1±1.2) µmol/L, F=21.61, P<0.01) and GAD ((31±6) U/L, (31±6) U/L vs (35±6) U/L, F=5.61, P<0.01) were lower than those of healthy control group. The level of serum GABA in bipolar depression group was lower than that in depression group. However, Glu/GABA was higher in bipolar depression group than that in depression group (P<0.01). The level of serum GABA in depression group was negatively correlated with HAMD sleep disorder factor (r=-0.46, P=0.01). Conclusions: Both depression and bipolar depression have abnormal levels of Glu, GABA neurotransmitters and imbalance between Glu and GABA in peripheral blood circulation. Moreover, these abnormalities are more obvious in patients with bipolar depression.

Simplified LC-MS/MS method for quantification of IG-105, a novel tubulin ligand, and its application to the pharmacokinetic study in rats at the anticancer effective dose.

IG-105, N-(2, 6-dimethoxypyridine-3-yl)-9-methylcarbazole-3-sulfonamide, a novel carbazole sulfonamide, shows a potent anticancer activity in a variety of human tumor cells in vitro and in vivo. In the present study, a rapid and convenient liquid chromatography/tandem mass spectrometry (LC-MS/MS) method was developed and applied to the pharmacokinetic study of IG-105 in rats. Chromatographic separation was accomplished on a C18 column using an isocratic mobile phase of acetonitrile-water-acetic acid (56:44:0.2, v/v/v). The ion transitions of IG-105 and combretastatin A4 (internal standard) in selected reaction monitoring mode were m/z 398→154 and m/z 317→286, respectively. The assay exhibited good linearity over the range of 2-512 ng/mL. Intra- and inter-day precisions were within 8.2 %, and the accuracies ranged from -6.0 to 3.7 %. The extraction recoveries were higher than 90 %, and the matrix effects were negligible. All quality control samples were stable at different storage conditions. The validated LC-MS/MS method was successfully applied to a preclinical pharmacokinetic study of IG-105 in rats after a single oral dose of 100, 250, or 1000 mg/kg which showed tumor growth inhibition activity. The absorption of IG-105 was proved to be rapid but saturated to a certain extent into the blood circulation, from where it was distributed and eliminated gradually.

Increased risk of stroke in patients with osteoarthritis: a population-based cohort study.

OBJECTIVES: Osteoarthritis (OA) is related to carotid atherosclerosis. Few studies have investigated the incidence of cerebrovascular diseases in patients with OA. Therefore, we conducted a population-based cohort study to determine the incidence and risk of stroke in patients with OA. METHODS: We used data from Taiwan's Longitudinal Health Insurance Database 2000 (LHID2000) to investigate the incidence of stroke in 43,635 patients with OA newly diagnosed between 2002 and 2003. The non-osteoarthritis (non-OA) cohort comprised 43,635 people from the general population. The follow-up period was from the index date of OA to the date of censoring date or stroke diagnosis, or to the end of 2010. RESULTS: The overall incidence of stroke was 36% higher in the OA cohort than in the non-OA cohort, with an adjusted hazard ratio (aHR) of 1.10 (95% confidence interval [CI] = 1.06-1.14) after adjustment for covariates. Men, age, comorbidity, non-selective nonsteroidal anti-inflammatory drugs (NSAIDs), and Cox-2 selective NSAIDs are independent risk factors of stroke. The OA adults with mild to moderate OA (aHR = 1.97, 95% CI = 1.70-2.28 for young adults; aHR = 1.33, 95% CI = 1.25-1.42 for middle-aged adults; aHR = 1.16, 95% CI = 1.12-1.21 for older adults) and severe OA (aHR = 3.78, 95% CI = 2.50-5.70 for young adults; aHR = 1.34, 95% CI = 1.16-1.56 for middle-aged adults; and aHR = 1.01, 95% CI = 0.92-1.10 for older adults) exhibited increased risks of stroke compared with their counterparts without OA. CONCLUSION: OA may be associated with a slightly increased risk of stroke.

Distribution of common pathogens in patients with pyogenic liver abscess in China: a meta-analysis.

Pyogenic liver abscess (PLA) is a potentially life-threatening disease in many parts of the world, especially in Asia. The aim of this study was to quantify the proportion of common pathogens in patients with PLA in China, using a meta-analysis method based on systematic review of published studies. Several electronic databases were searched to identify the studies reporting the pathogens of PLA. We performed a meta-analysis to calculate the pooled proportion of pathogens and subgroup analysis among the included studies using R 3.1.1 software. In total, 183 studies were included in our final analysis, Klebsiella spp (54 %), Escherichia spp (29 %), Enterobacter spp (9 %), Proteus spp (6 %) and Pseudomonas spp (5 %) comprised the major gram-negative bacteria. Gram-positive bacteria mainly included Staphylococcus spp (13 %), Streptococcus spp (8 %) and Enterococcus spp (7 %). The distribution of pathogens in PLA patients were different in different economic regions in China. The proportion of Klebsiella spp had an upward tendency in recent years compared to other pathogens. In addition, the proportion of common pathogens in PLA patients with diabetes mellitus (DM) were carried out indicating that the dominant pathogens were Klebsiella spp (66 %), Escherichia spp (21 %) and Enterobacter spp (11 %). This meta-analysis showed that the main pathogens of PLA were Klebsiella spp, Escherichia spp, Staphylococcus spp, and Enterobacter spp in China. To ensure a precise estimate of the epidemiology of the pathogens, further large-scale or even a population-based study is needed.

[Changes of HbCO in the Blood of Rats with Different CO Concentration and Inhalation Time].

OBJECTIVES: To explore the change rules of behavioral characteristics, survival time and saturation of carboxyhemoglobin （HbCO） in different CO concentration to provide experimental basis for the cases of CO poisoning death in forensic practice. METHODS: Total 160 SD rats were randomly divided into four groups. CO with the concentration of 1 250 mg/m³, 3 750 mg/m³, 6 250 mg/m³ were continuously and respectively replenished in a self-made toxicant exposure equipment until rats died from poisoning. In different CO concentration, the behavioral characteristics and survival time of poisoning rats were observed and recorded. The saturation of HbCO in heart blood was detected by spectrophotometric method. Organs such as brain, heart, lung and liver, and heart blood were obtained via autopsy and histopathological observation was performed. RESULTS: The behavioral characteristics of CO poisoning rats were limp and slow response. There were a gradual decrease of survival time and an increase of HbCO saturation in rats with the increase of CO concentration. Three rats in CO concentration of 1 250 mg/m³ group showed lower saturations of HbCO than the lethal dose and this situation hasn't been found in other groups. CONCLUSIONS: The animal model of CO poisoning established under different CO concentration has the advantages such as simplicity and good repeatability, which lays a foundation to the further study for CO and other inhaled toxic gas in the research of forensic sciences.

Regulatory T cell microRNA expression changes in children with acute Kawasaki disease.

Kawasaki disease (KD) is a type of systemic vasculitis syndrome related to immune dysfunction. Previous studies have implicated that dysfunctional regulatory T cells (Treg ) may be associated with the immune dysfunction in KD. In the absence of microRNAs (miRNAs), forkhead box protein 3 (FoxP3)(+) Treg develop but fail to maintain immune homeostasis. This study was designed to investigate the effects of miR-155, miR-21 and miR-31 on Treg in children with KD. The proportions of CD4(+) CD25(+) FoxP3(+) Treg and the mean fluorescence intensity (MFI) of phosphorylated-signal transducer and activator of transcription (pSTAT)-5 and pSTAT-3 protein in CD4(+) CD25(+) Treg were analysed by flow cytometry. The concentration of interleukin (IL)-6 in plasma was measured by cytometric bead array. Real-time polymerase chain reaction was performed to detect the levels of microRNAs and associated factors in CD4(+) CD25(+) Treg . The proportion of Treg and the mRNA levels of the associated factors [FoxP3, glucocorticoid-induced tumour necrosis factor-receptor (GITR), cytotoxic T lymphocyte antigen (CTLA)-4)] were significantly lower in KD patients (P < 0·05). MiR-155 and miR-21 levels were significantly down-regulated and miR-31 expression was higher in KD patients (P < 0·05). Plasma interleukin (IL)-6 concentrations, pSTAT-3 protein levels and suppressors of cytokine signalling (SOCS)-1 mRNA expression were remarkably elevated in acute KD (P < 0·05), while pSTAT-5 protein levels were remarkably decreased in acute KD (P < 0·05). These findings were reversed after intravenous immunoglobulin treatment (P < 0·05). Our results demonstrate that FoxP3 mRNA levels were primarily affected by the miR-155/SOCS1 and the miR-31 signalling pathways. These results suggest that the decrease in FoxP3(+) Treg might be associated with decreased expression of miR-155, leading to aberrant SOCS1/STAT-5 signalling and overexpression of miR-31 in patients with acute KD.

Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas.

Trichoepithelioma is a benign neoplasm that primarily shows follicular germinative differentiation. Classic trichoepithelioma typically presents as a skin-colored papule or nodule on the face or upper trunk; lesions have a predilection for the nose. Trichoepithelioma can be sporadic or familial and solitary or multiple. Most previously reported multiple trichoepithelioma cases are familial, and germline CYLD mutations could be detected in some patients. We performed mutational analysis of the germline CYLD gene in 8 Chinese multiple trichoepitheliomas patients, 6 of which were sporadic cases. A heterozygous missense mutation (c.1112C>A) in the 9th exon of the CYLD gene was detected in some mother-daughter patients. However, the germline CYLD mutation could not be detected in the 6 non-familial cases. The results suggest that the pathogenesis of sporadic multiple trichoepitheliomas may differ from that of familial cases. Our findings also further confirmed the genetic heterogeneity of multiple trichoepitheliomas.

[Correlation analysis of polyclonal plasma cell proportion in the bone marrow with clinical characteristics of patients with newly diagnosed multiple myeloma].

Objective: To explore the correlation of bone marrow polychonal plasma cell proportion (pPC% ) and clinical features in newly diagnosed multiple myeloma (NDMM) patients. Methods: A retrospective analysis of 317 patients with NDMM admitted to Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2018 to January 2023 was performed. The results of the pPC% in all patients were clear. The relationship between the pPC% and clinical characteristics was analyzed. Results: A total of 317 patients were included, comprising 180 males and 137 females. The median age at diagnosis was 61 (26-91) years, and 55.8% were 60 years or older. The pPC% in the bone marrow of patients with NDMM was different in the DS, International Staging System (ISS), and revised ISS (R-ISS) stages (P=0.002, 0.010, and 0.049, respectively), whereas no statistical difference in pPC% was observed among patients with different FISH risk stratigrams (P=0.971). The correlation coefficient between pPC% and hemoglobin (HGB) at the first diagnosis in patients was 0.211 (P<0.01). The correlation coefficients with serum calcium, serum creatinine, M protein level, and ß(2)-microglobulin were -0.141, -0.120, -0.181, and -0.207, respectively, and the results of the significance test were P=0.012, 0.033, 0.004, and 0.002, respectively, indicating a negative correlation. Compared with the patients with a pPC% of ≥2.5%, the group of patients with a pPC% of <2.5% had significantly higher levels of light chain, serum calcium, serum creatinine, M protein, and ß(2)-microglobulin at the initial diagnosis (P<0.05) ; lower HGB level (P<0.001) ; and a higher proportion of patients in ISS stage Ⅲ (P=0.034) . Conclusion: In this study, the pPC% in patients with NDMM was associated with clinical features of good prognosis, including higher HGB, lower serum calcium, serum creatinine, M protein quantity, ß(2)-microglobulin, light chain involvement, lower proportion of advanced disease (DS stage and ISS stage Ⅲ), and clinical features showing lower tumor burden.

Aberrantly decreased levels of NKG2D expression in children with kawasaki disease.

This study is designed to investigate the changes of NKG2D expression on CD8(+) T cells and CD3(-) CD56(+) NK cells in Kawasaki disease (KD). NKG2D/NKG2A expression on CD3(-) CD56(+) NK cells and CD8(+) T lymphocytes, and NKG2D ligands such as major histocompatibility complex I chain-related molecules A(MICA) and UL-16-binding proteins (ULBP-1) expression on CD14(+) mononuclear cells (MC) were analysed by flow cytometry in patients with KD. Real-time polymerase chain reaction (PCR) was used to evaluate the mRNA levels of interleukin (IL)-1ß, IL-6 and tumour necrosis factor (TNF)-α in CD14(+) cells. Plasma cytokine [IL-7, IL-12, IL-15, interferon (IFN)-γ and transforming growth factor (TGF)-ß] concentrations were measured by ELISA. The levels of NKG2D on NK cells and CD8(+) T cells expression in acute phase of KD were significantly lower than those in normal controls (P < 0.05), and the levels of NKG2D expression in the patients with coronary artery lesion (KD-CAL(+) ) were lower than those in patients with KD-CAL(-) . There was an upregulated tendency after treatment with IVIG. We found higher expression levels of proinflammatory cytokines from MC, such as IL-1ß, IL-6 and TNF-α in patients with KD compared with the healthy controls (P < 0.05). The concentrations of IL-7 and IL-15 were significantly decreased in acute phase of KD (P < 0.05) and to some extent elevated after therapy with IVIG (P < 0.05), while antagonistic cytokines like IFN-γ were increased in acute phase of KD (P < 0.05) and reduced after therapy with IVIG (P < 0.05). These results suggest that aberrantly decreased levels of NKG2D expression on NK cells and CD8(+) T cells might be one of the factors led to disturbed immunological function in patients with KD. Cytokines milieu could be important factors causing reduced expression of NKG2D.

Overexpression of an alternative oxidase gene, OsAOX1a, improves cold tolerance in Oryza sativa L.

Low temperature is a major environmental stress in rice cultivating and production. The alternative oxidase 1 (AOX1) gene is potentially important for genetic engineering to increase cold adaptation. However, previous studies related to this effect have mostly focused on the dicot plants Arabidopsis and tobacco, whereas functional research on rice is limited. In this study, we cloned a rice predominant cold-response AOX1 gene, OsAOX1a. Transgenic rice plants with overexpression of OsAOX1a were obtained. We found that OsAOX1a overexpression could strongly enhance the cold growth of seedlings, especially with respect to root extension. However, growth between transgenic and control plants did not differ under normal conditions. Furthermore, the lipid peroxidation and ion leakage rate were determined after cold treatment in transgenic plants. Both factors were reduced by OsAOX1a overexpression, which revealed that OsAOX1a could reduce oxidative damage under cold stress. Taken together, our results suggested that overexpressing OsAOX1a could improve growth performance of rice under cold stress, which might be closely related to the reduction of reactive oxygen species generation and oxidative damage.

Two novel mutations of the nicastrin gene in Chinese patients with acne inversa.

Acne inversa (AI, OMIM 142690), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent and debilitating skin follicular disease that usually presents after puberty with painful, deep-seated, inflamed lesions in the apocrine gland-bearing areas of the body, most commonly the axilla, inguinal and anogenital regions.(1) The prevalence of AI has been estimated at 1 in 100 to 1 in 600.(2) Of patients with AI, 35-40% have a positive family history.(3) The pattern of transmission is consistent with autosomal dominant inheritance.(4) In 2006, Gao et al.(5) mapped the AI gene at chromosome 1p21.1-1q25.3. In 2010, Wang et al.(6) were the first to identify mutations of γ-secretase genes responsible for AI among six Chinese families. γ-Secretase is a transmembrane protease composed of four essential protein subunits: one catalytic presenilin (PSEN1) subunit and three cofactor subunits [presenilin enhancer 2 (PSENEN), nicastrin (NCSTN) and anterior pharynx defective 1 (APH1)]. Two, one and three mutations were found in PSENEN, PSEN1 and NCSTN, respectively. Here, we report a heterozygous nonsense c.1695T>G mutation and a heterozygous missense c.632C>G mutation of the NCSTN gene in two Chinese AI families.

Thermoelectric properties of rare-earth doped Fe2VAl Heusler alloys.

The low-temperature electrical transport properties of the rare-earth (RE) Ce, Dy, Sm element doped Fe2VAl Heusler alloys have been investigated. A significant enhancement in the Seebeck coefficient S (peak values of about -125 to -160 µV K-1) is observed as compared to the pure Fe2VAl (peak value of about 40 µV K-1). It is observed that the thermal conductivity reduced by 50% in RE-doped samples. The single parabolic band model has been used to analyze the experimental data and to understand the role of fundamental parameters like the Lorenz number. The lattice contribution to the total thermal conductivity was analyzed through the Callaway model, which in turn provided the insight into the phonon scattering in these alloys. Finally, we demonstrate a significant improvement in power factor and figure of merit at all temperatures for the RE-doped Fe2VAl alloys.