Ultrasound-guided core-needle biopsy for peripheral pulmonary lesions: a systematic review and meta-analysis.

AIM: To evaluate the diagnostic value and safety of ultrasound-guided core-needle biopsy for peripheral pulmonary lesions (PPLs). MATERIALS AND METHODS: PubMed, EMBASE, and the Cochrane Library for relevant were searched for studies published up to June 2022. The diagnostic accuracy of US-guided percutaneous transthoracic needle biopsy (PTNB) for the diagnosis of PPLs was evaluated using pooled sensitivity, specificity, diagnostic odds ratio (DOR), positive and negative likelihood ratios (PLR and NLR), and the area under the summary receiver operating characteristic curves value (SROC). RESULTS: The search included 12 original studies (3,830 procedures). For US-guided PTNB, the pooled sensitivity and specificity for the diagnosis of PPLs were 0.93 (95% confidence interval [CI]: 0.91-0.94) and 0.99 (95% CI: 0.96-1.00), respectively. The pooled estimates of the PLR, NLR, and DOR were 134.88 (95% CI: 24.88-731.74), 0.07 (95% CI: 0.06-0.09), and 1,814.95 (95% CI: 333.62-9,873.76), respectively. The area under the SROC curve was 0.95 (95% CI: 0.93-0.97). The overall complication rate was 3.6% (136 of 3,830), including self-limited haemoptysis and asymptomatic pneumothorax, and only six cases of pneumothorax requiring chest tube drainage and one case of severe bleeding were reported. CONCLUSIONS: US-guided core-needle biopsy is an excellent diagnostic tool for PPLs, with high accuracy and excellent technical performance and safety.

[The prevention and management of approach-specific complications of abdominal aortic balloon occlusion in pelvic and sacral surgery].

Objective: To investigate the causes,prevention and treatment of femoral artery puncture related complications caused by the application of resuscitative endovascular balloon occlusion of the aorta (REBOA) in the resection of pelvic and sacral tumors. Methods: Clinical data of 23 patients with femoral artery puncture related complications who received REBOA in the resection of pelvic and sacral tumors from August 2010 to August 2018 at the Musculoskeletal Tumor Center,Peking University People's Hospital were retrospectively analyzed.There were 8 males and 15 females,with the an age of (37.0±16.2) years (range:15 to 65 years).Arterial access via the Seldinger technique for REBOA was obtained in the right common femoral artery of 18 cases,and in the left of 6 cases.An arterial sheath with a diameter of 11 to 12 F(1 F≈0.33 mm) was used for the patient.The occurrence and treatment of postoperative complications were analyzed. Results: Acute femoral arterial thrombosis occurred in 18 patients,which was managed by open repair 48 hours postoperatively.Among the 349 patients admitted before 2015 who received hemostasis by compression after femoral artery sheath removal,12 patients (3.4%) developed acute femoral artery thrombosis.While the 476 patients admitted after 2015 who used a vascular stapler to close the femoral artery wound,6 patients (1.3%) developed acute femoral artery thrombosis.One case of retroperitoneal hematoma and 1 case of femoral pseudoaneurysm were found and surgically fixed.Postoperative follow-up was (40±18) months (range:13 to 108 months).Three cases with chronic lower extremity ischemia were confirmed by Doppler ultrasonography during 1 to 5 years follow-up.Two of them had minimal symptoms and denied further treatment,while the other one received femoral-femoral artery bypass surgery to restore distal flow for pain and numbness relief. Conclusions: Acute femoral arterial thrombosis was the most common femoral artery puncture.Technique refinement of REBOA,the use of percutaneous suture device and close follow-up can reduce the approach-specific complications,and help to detect and treat the complications timely,which may popularize the clinical application of REBOA.

[Analysis of a three-dimensional finite element model of atlas and axis complex fracture].

Objective: To explored the clinical application of the three-dimensional finite element model of atlantoaxial complex fracture. Methods: A three-dimensional finite element model of cervical spine (FEM/intact) was established by software of Abaqus6.12.On the basis of this model, a three-dimensional finite element model of four types of atlantoaxial complex fracture was established: C(1) fracture (Jefferson)+ C(2) fracture (type Ⅱfracture), Jefferson+ C(2) fracture(type Ⅲfracture), Jefferson+ C(2) fracture(Hangman), Jefferson+ stable C(2) fracture (FEM/fracture). The range of motion under flexion, extension, lateral bending and axial rotation were measured and compared with the model of cervical spine. Results: The three-dimensional finite element model of four types of atlantoaxial complex fracture had the same similarity and profile.The range of motion (ROM) of different segments had different changes.Compared with those in the normal model, the ROM of C(0/1) and C(1/2) in C(1) combined Ⅱ odontoid fracture model in flexion/extension, lateral bending and rotation increased by 57.45%, 29.34%, 48.09% and 95.49%, 88.52%, 36.71%, respectively.The ROM of C(0/1) and C(1/2) in C(1) combined Ⅲodontoid fracture model in flexion/extension, lateral bending and rotation increased by 47.01%, 27.30%, 45.31% and 90.38%, 27.30%, 30.0%.The ROM of C(0/1) and C(1/2) in C(1) combined Hangman fracture model in flexion/extension, lateral bending and rotation increased by 32.68%, 79.34%, 77.62% and 60.53%, 81.20%, 21.48%, respectively.The ROM of C(0/1) and C(1/2) in C(1) combined axis fracture model in flexion/extension, lateral bending and rotation increased by 15.00%, 29.30%, 8.47% and 37.87%, 75.57%, 8.30%, respectively. Conclusions: The three-dimensional finite element model can be used to simulate the biomechanics of atlantoaxial complex fracture.The ROM of atlantoaxial complex fracture is larger than nomal model, which indicates that surgical treatment should be performed.

[Genetic characterization of rubella virus isolated in Guizhou Province from 2012 to 2015].

Objective: To analyze the genetic characteristics of rubella virus isolated from 2012 to 2015 in Guizhou province. Methods: A total of 390 cases of suspected measles were collected from Guizhou measles network laboratory from 2012 to 2015 and 25 cases of rubella cases were diagnosed. Rubella virus isolation was performed using Vero/SLAM cells. The presence of rubella viral RNA was detected using Real-time RT-PCR after RNA extraction from infected tissue culture cells. Fragments of 480 bp and 633 bp nucleotides of E1 genes of the isolates were amplified by RT-PCR and the PCR products were sequenced and spliced. The phylogenetic tree was conducted based on the 739 bp nucleotide sequences of E1 genes and gene characteristic analysis was performed. Results: There were 19 cases of rubella outbreaks and 6 cases of rubella sporadic cases in 25 cases of suspected rubella cases. There were 11 males (44.0%) and 14 females (56.0%). The mean age and standard deviation were (12.3±3.9) years. A total of 10 rubella strains were isolated. The results of phylogenetic analysis showed that 7 strains of rubella virus isolates belonged to genotype 1E and the other belonged to genotype 2B. The nucleotide acid and amino acid homology among 7 strains 1E genotype were 99.0%-100% and 100% respectively. 2B genotype of 3 strains of nucleotide and amino acid homology were 99.4%-100% and 99.5%-100% respectively. Ten strains of rubella virus were not mutated in the E1 glycoprotein gene, Asn 177 and Asn 209 N-type glycosylation sites and E1 antigen epitopes between 213 and 285aa.Among them, 7 strains of 1E genotype had a mutation from leucine to phenylalanine in 338 amino acid, 2 strains of 2B genotype at 377 amino acids from valine to alanine. Conclusion: Rubella virus epidemic was caused by 1E and 2B genotypes in Guizhou from 2012 to 2015.Ten strains of rubella virus were highly conserved in nucleotide and amino acid sequences and there was no variation of important functional sites.

Characterization and comparison of transgenic Artemisia annua GYR and wild-type NON-GYR plants in an environmental release trial.

The anti-malarial drug, artemisinin, is quite expensive as a result of its slow content in Artemisia annua. Recent investigations have suggested that genetic engineering of A. annua is a promising approach to improve the yield of artemisinin. In this study, the transgenic A. annua strain GYR, which has high artemisinin content, was evaluated in an environmental release trial. First, GYR plants were compared with the wild-type variety NON-GYR, with regard to phenotypic characters (plant height, crown width, stem diameter, germination rate, leaf dry weight, 1000-seed weight, leave shape). Second, stress resistance in the two varieties (salt, drought, herbicide, and cold resistance) was evaluated under different experimental conditions. Finally, gene flow was estimated. The results indicated that there were significant differences in several agronomic traits (plant height, stem diameter, and leave dry weight) between the transgenic GYR and NON-GYR plants. Salt stress in transgenic and control plants was similar, except under high NaCl concentrations (1.6%, w/w). Leaf water, proline, and MDA content (increased significantly) were significantly different. Transgenic A. annua GYR plants did not grow better than NON-GYR plants with respect to drought and herbicide resistance. The two varieties maintained vitality through the winter. Third, gene flow was studied in an environmental risk trial for transgenic GYR. The maximum gene flow frequency was 2.5%, while the maximum gene flow distance was 24.4 m; gene flow was not detected at 29.2 m at any direction. Our findings may provide an opportunity for risk assessment in future commercialization of transgenic A. annua varieties.

Comparison of extraction methods of total microbial DNA from freshwater.

The demand for molecular analysis of aquatic microbial communities in freshwater has highlighted the need for efficient methods of DNA extraction. The centrifugation method and filtration-membrane method are 2 widely used methods for extracting DNA. The objective of this study was to compare the extraction efficiency of 3 methods, including the centrifugation method, filtration-membrane method, and modified filtration-membrane method, by evaluating the quantity and purity of DNA extracts obtained from water. DNA extraction was analyzed by agarose gel electrophoresis, ultraviolet-spectroscopy, restriction enzyme digestion, and polymerase chain reaction. The results showed that the modified filtration-membrane method was the most efficient for extracting microbial DNA from freshwater with high integrity and purity and is suitable for molecular applications.

Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China.

Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency disease characterized by eczema, recurrent staphylococcal aureus skin abscesses, pneumonia with pneumatocele formation, remarkably high serum IgE levels, eosinophilia and involvement of skeleton and connective tissues. Heterozygous signal transducer and activator of transcription 3 (STAT3) mutations were shown to be the cause of autosomal dominant HIES (AD-HIES). In this study, we diagnosed nine patients with HIES from 9 unrelated families on the basis of a National Institutes of Health (NIH) score of ≥40 points, sequenced the STAT3 gene of all nine patients, and quantified Th17 cells in peripheral blood of seven patients by flow cytometry in mainland China. All nine patients had characteristic manifestation of HIES with the range of NIH scores 45-77 points. STAT3 hot mutations V637M or R382W/Q were identified in five patients. We identified two novel heterozygous missense mutations (T620S and R609G) located in Src homology 2 (SH2) domain in two patients, respectively. In two other patients, no STAT3 mutations were found. Quantified Th17 cell numbers were markedly decreased or absent (0-0.28% of CD4(+) T cells) in six patients with STAT3 mutations and almost normal (0.53% of CD4(+) T cells) in one wild-type STAT3 patient compared with healthy controls (0.40-2.25% of CD4(+) T cells). These results suggest that not all patients with HIES who had NIH scores over 40 points carry STAT3 mutations, those whose Th17 cell numbers strikingly decreased probably had AD-HIES with STAT3 mutations.

Converting surface plasmon to spatial Airy beam by graded grating on metal surface.

A well-developed phase modulation method is utilized to design a nanogroove grating for a desired diffraction process, which gives rise to the conversion of a surface plasmon wave to an Airy-like radiation beam. Experiments and simulations revealed the unique characteristics of the generated Airy-like beam, such as nonspreading, self-bending, and self-healing. Our result confirms the validation of the diffraction strategy for beam engineering in conversions and possibly indicates wider applications in broader areas.

[Clinical research of multisystem inflammatory syndrome in children].

Objective: To analyze the clinical characteristics of children with multisystem inflammatory syndrome (MIS-C) associated with SARS-CoV-2 in China, and to improve the understanding of MIS-C among pediatricians. Methods: Case series study.Collect the clinical characteristics, auxiliary examinations, treatment decisions, and prognosis of 64 patients with MIS-C from 9 hospitals in China from December 2022 to June 2023. Results: Among the 64 MIS-C patients, 36 were boys and 28 were girls, with an onset age being 2.8 (0.3, 14.0) years. All patients suffered from fever, elevated inflammatory indicators, and multiple system involvement. Forty-three patients (67%) were involved in more than 3 systems simultaneously, including skin mucosa 60 cases (94%), blood system 52 cases (89%), circulatory system 54 cases (84%), digestive system 48 cases (75%), and nervous system 24 cases (37%). Common mucocutaneous lesions included rash 54 cases (84%) and conjunctival congestion and (or) lip flushing 45 cases (70%). Hematological abnormalities consisted of coagulation dysfunction 48 cases (75%), thrombocytopenia 9 cases (14%), and lymphopenia 8 cases (13%). Cardiovascular lesions mainly affected cardiac function, of which 11 patients (17%) were accompanied by hypotension or shock, and 7 patients (12%) had coronary artery dilatation.Thirty-six patients (56%) had gastrointestinal symptoms, 23 patients (36%) had neurological symptoms. Forty-five patients (70%) received the initial treatment of intravenous immunoglobulin in combination with glucocorticoids, 5 patients (8%) received the methylprednisolone pulse therapy and 2 patients (3%) treated with biological agents, 7 patients with coronary artery dilation all returned to normal within 6 months. Conclusions: MIS-C patients are mainly characterized by fever, high inflammatory response, and multiple organ damage. The preferred initial treatment is intravenous immunoglobulin combined with glucocorticoids. All patients have a good prognosis.

Event-specific qualitative and quantitative PCR detection of the GMO carnation (Dianthus caryophyllus) variety Moonlite based upon the 5'-transgene integration sequence.

To ensure the implementation of genetically modified organism (GMO)-labeling regulations, an event-specific detection method was developed based on the junction sequence of an exogenous integrant in the transgenic carnation variety Moonlite. The 5'-transgene integration sequence was isolated by thermal asymmetric interlaced PCR. Based upon the 5'-transgene integration sequence, the event-specific primers and TaqMan probe were designed to amplify the fragments, which spanned the exogenous DNA and carnation genomic DNA. Qualitative and quantitative PCR assays were developed employing the designed primers and probe. The detection limit of the qualitative PCR assay was 0.05% for Moonlite in 100 ng total carnation genomic DNA, corresponding to about 79 copies of the carnation haploid genome; the limit of detection and quantification of the quantitative PCR assay were estimated to be 38 and 190 copies of haploid carnation genomic DNA, respectively. Carnation samples with different contents of genetically modified components were quantified and the bias between the observed and true values of three samples were lower than the acceptance criterion (<25%) of the GMO detection method. These results indicated that these event-specific methods would be useful for the identification and quantification of the GMO carnation Moonlite.

[Clinical characteristics and risk factors of recurrent Kawasaki disease].

Objective: To summarize the clinical characteristics and explore the risk factors of recurrent Kawasaki disease. Methods: In this retrospective study, reviewed 41 cases with recurrent Kawasaki disease in Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University from January 2013 to January 2021. And another 123 children with Kawasaki disease who had no recurrence during at least 6 years of follow-up were assigned into control group. Furthermore, the risk factors of recurrence were derived by comparing the clinical characteristics of recurrent cases at their initial episodes with those of control cases by Chi-square test and the Mann-Whitney U test, followed by Logistic regression and receiver operating characteristic analysis. Results: There were 29 males and 12 females in 41 children with recurrent Kawasaki disease, 33 children (80%) suffered a recurrence within 2 years after the first episode and 8 children (20%) developed a recurrence after 2 years. Compared with the first episode, the second episode had lower white blood cell count (15.2 (12.8-18.8)×109 vs. 18.0 (14.9-23.4)×109/L, Z=-2.462, P=0.014) and rate of edema in extremities (54% (22/41) vs. 76% (31/41), χ2=4.321, P=0.038), shorter fever durations before intravenous immunoglobulin treatment (5.0 (5.0-6.0) vs. 6.0 (5.0-7.5) d, Z=-3.329, P=0.001) and higher levels of hemoglobin ((116±8) vs. (107±12)g/L, t=-4.124, P<0.05) and albumin((39±5) vs. (36±6) g/L, t=-3.009, P=0.004). Multivariate Logistic regression analysis showed that C-reaction protein>97.5 mg/L (OR=3.014, 95%CI 1.350-6.730, P=0.007), platelet >276 × 109/L (OR=4.099, 95%CI 1.309-12.838, P=0.015), intravenous immunoglobulin resistance (OR=9.239, 95%CI 1.178-72.477, P=0.034), Mycoplasma pneumoniae infection (OR=2.585, 95%CI 1.129-5.922, P=0.025) were independent risk factors for recurrent Kawasaki disease recurrence.The predictive model then was generated using these four risk factors. The receiver operating characteristic analysis showed that the area under curve was 0.732 (95%CI 0.647-0.817). When the cut-off was 0.241, the sensitivity and specificity were 63.4% and 70.7%, respectively. Conclusions: Children with Kawasaki disease should be followed up for at least 2 years after the first episode and should pay more attention to C-reactive protein. Children with Mycoplasma pneumoniae infection, intravenous immunoglobulin resistance, higher C-reactive protein and platelet at the first onset have a higher risk of recurrent Kawasaki disease.

[Intravenous immunoglobulin replacement therapy in 114 cases of congenital agammaglobulinemia].

Objective: To analyze the clinical characteristics of congenital agammaglobulinemia and the efficacy of intravenous immunoglobulin (IVIG) replacement therapy for this disease. Methods: The basic characteristics, clinical manifestations, laboratory examinations, and outcomes of 114 patients with congenital agammaglobulinemia diagnosed in Children's Hospital of Chongqing Medical University from January 1988 to April 2020 were retrospectively analyzed. The efficacy of IVIG in improving the clinical symptoms between regular and irregular treatment groups were compared by χ2 test. To explore the clinical characteristics associated with delayed diagnosis and treatment, the patients were also stratified into following subgroups: non-cough, short-term cough and long-term cough groups, chronic lung disease and non-chronic lung disease groups, and arthritis and non-arthritis groups. The age at onset, age at diagnosis, time consumed for diagnosis, initial time of immunoglobulin replacement, dose of IVIG, IgG trough level between the above groups were compared by t test, F test or non-parametric test. Results: All the 114 patients were male, with the onset age of (22±18) months. The age at diagnosis was (89±54) months, time consumed in diagnosis was (63±46) months, and the initial time of immunoglobulin replacement was (75±45) months. A total of 66 patients had been followed up to April 2020, with a follow-up period of (54±41) months. Among these children, 42 (63.6%) received regular infusion, whose monthly IVIG dose was (538±105) mg/kg and IgG trough level was (5.8±1.5) g/L, whereas 24 patients (36.4%) were treated irregularly. There was no significant difference in the improvement rate of fever, cough, sinusitis, diarrhea, otitis media and arthritis between regular and irregular IVIG replacement groups (all P>0.05). Sixty-one out of the 66 patients (92.4%) had fever before IVIG treatment, whose fever episodes were significantly decreased after IVIG treatment (5 (2,12) vs. 0 (0, 1) per year, Z =-6.436, P<0.01). Sixty patients (90.9%) suffered from wet cough before treatment and 36 (54.5%) after treatment. Initial time of immunoglobulin replacement was significantly delayed in the long-term cough (27 cases) and short-term cough groups (9 cases) compared with non-cough group (18 cases) ((97±51) vs. (64±41) vs. (63±42) months, F=3.554, P=0.035). Twenty-nine patients (43.9%) were diagnosed with chronic lung disease, whose initial time of immunoglobulin replacement (103 (75,144) vs. 46 (26,64) months, Z=-4.330, P<0.01), age at diagnosis (103 (75,142) vs. 47 (31,68) months, Z=-3.486, P<0.01), and time consumed in diagnosis (91 (55,129) vs. 29 (10,41) months, Z =-4.386, P<0.01) were significantly later and longer than those in children without chronic lung disease (37 cases). In addition, thirty-two patients(48.5%) were diagnosed with arthritis, whose initial time of immunoglobulin replacement ((98±51) vs. (58±39) months,t=3.420, P=0.001) and time consumed in diagnosis ((74±49) vs. (44±40) months, t=2.600, P=0.010) were also significantly later and longer than those in children without arthritis (34 cases). Conclusions: After immunoglobulin replacement therapy, the clinical symptoms such as fever, sinusitis, diarrhea, and otitis media can be improved more or less. However, long-term wet cough, chronic lung disease, and arthritis are still prominent clinical problems, which could be controlled by standard immunoglobulin replacement therapy in some patients.

[Clinical characteristics and risk factors of deaths in patients with Wiskott-Aldrich syndrome].

Objective: To explore the clinical characteristics and risk factors of pediatric patients with Wiskott-Aldrich syndrome (WAS). Methods: This was a case-control study. Clinical data of 165 cases of pediatric patients with WAS, who visited the Department of Rheumatology, Children's Hospital of Chongqing Medical University between January 2007 and August 2020 were retrospectively analyzed and divided into death group and survival group (control group) according to the prognosis in the follow-up. Two independent samples t-test, Welch approximate t-test, Mann-Whitney U test, Pearson χ² test, Yates corrected χ² test, or Fisher exact probability test were used for comparison between groups. Risk factors were analyzed by multivariate Logistic regression analysis. Results: A total of 165 patients with Wiskott-Aldrich syndrome were enrolled in this study, including 40 cases in the death group and 125 cases in the survival group. The WAS score was (4.1±0.8) score in the death group and (3.1±1.2) score in the survival group. The age was 19 (9, 28) months in the death group and 60 (36,86) in the survival group. The episode rates of recurrent infection and (or) severe infection, intracranial hemorrhage and eczema in the death group were significantly higher than those in the survival group (95.0% (38/40) vs.32.0% (40/125),25.0% (10/40) vs. 2.4% (3/125), 90.0% (36/40) vs. 72.0% (90/125), χ²=48.253, 18.325, 5.440, all P<0.05). Infection (22 cases, 55.0%) and intracerebral hemorrhage (15 cases, 37.5%) were the main causes of death, 3 cases (7.5%) died of severe graft-versus-host disease after transplantation. The Logistic regression model indicated that repeated infection and (or) severe infection and non-use of intravenous immunoglobulin (IVIG) replacement therapy were risk factors for death in Chinese WAS patients (OR values were 8.999 and 2.860, 95% CI were (2.041-39.667) and (1.375-5.950), respectively, all P<0.05). Conclusions: Recurrent and (or) severe infection is the main risk factor of death for WAS patietns. Regular IVIG treatment can improve the survival rate of patients with WAS.

[The analysis of clinical phenotypes and autoantibodies in juvenile dermatomyositis].

Objective: To elucidate the relationship between the myositis autoantibodies and clinical phenotypes of juvenile dermatomyositis (JDM). Methods: A total of 76 JDM patients admitted to the Children's Hospital of Chongqing Medical University from January 2017 to May 2020 were tested for myositis autoantibodies, including myositis-specific autoantibodies (MSAs) and myositis-associated autoantibodies (MAAs). Kruskal-Wallis test and logistic regression were used to analyze the relationship between the antibodies and clinical characteristics. Results: In the 76 cases, 37 were females and 39 males. Forty-three cases (53%) were MSAs positive, among which the most common subtypes were autoantibodies against nuclear matrix protein 2 (NXP2) (15/76, 20%), melanoma differentiation-associated protein 5 (MDA5) (13/76, 17%) and transcription intermediary factor 1 gamma (9/76, 11%). While 20 cases (26%) were positive for MAAs, among which anti-Ro-52 antibody (17/76, 22%) was the most common subtype. Sixteen patients (21%) had both MAAs and MSAs. The incidences of arthritis (9 cases), fever (8 cases), skin ulcers (5 cases) and macrophage activation syndrome (MAS) (1 case) were significantly higher in the patients with anti-MDA5 antibody among the antibody groups. Dysphasia (6 cases) and edema (8 cases) mainly occurred in patients with anti-NXP2 antibody. Children with anti-MDA5 antibody were more likely to develop arthritis (OR=10.636, 95%CI: 2.770-40.844, P=0.001), skin ulcers (OR=12.500, 95%CI: 2.498-62.522, P=0.002), fever (OR=5.600, 95%CI: 1.580-19.849, P=0.008) and interstitial lung disease (ILD) (OR=23.333, 95%CI: 4.750-114.616, P<0.01). In the patients with different subtypes of MSAs, the creatine kinase value was significantly lower in the anti-MDA5 group than those in the anti-aminoacyl-tRNA synthetase (P=0.03), anti-NXP2 (P<0.01), and MSAs-negative group (P=0.013). Conclusions: Most children with JDM have positive myositis autoantibodies, and will present with different clinical phenotypes based on different autoantibodies. And children with anti-MDA5 antibodies are likely to develop ILD and MAS. Therefore the detection of myositis-specific autoantibodies is important.

[A case report of BCL11B mutation induced neurodevelopmental disorder and literature review].

Objective: To analyze the clinical , immunological and genetic features of a child with BCL11B mutation induced neurodevelopmental disorder. Methods: The clinical data and genetic test of a child with BCL11B mutation hospitalized in the Department of Rheumatology and Immunology in Children's Hospital of Chongqing Medical University in December 2018 were extracted and analyzed. The literature was searched with "BCL11B mutation" and "immunodeficiency 49" as key words in Chinese databases and Pubmed until January 2019 was reviewed. Results: A male patient aged 3 years and 11 months with facial dysmorphisms and delayed language and motor development was admitted due to neurodevelopmental retardation over two years. Laboratory tests showed normal human immunoglobulin (IgG 12.90 g/L, IgA 1.02 g/L, IgM 1.15 g/L, IgE 532 000 U/L), Trec (228) and proliferation of T and B cells. The lymphocyte subsets revealeda reduced percentage of B cells (0.108) but normal absolute numbers (0.574×10(-3)/L), and an increased percentage (0.828) as well as absolute numbers (4.415×10(-3)/L) of T cells. A heterozygous BCL11B mutation was detected by sanger sequencing, showing a de novo frameshift mutation c.1887_c.1893delCGGCGGG in exon 4. Two papers were found which were all in English, with total of 14 patients(13 patients with complete information). Thirteen mutations were reposed, including 7 frameshift, 2 nonsense, 2 missense, and 2 chromosomal rearrangements; Thirteen patients had heterozygous mutations. All patients had delayed language and motor development and facial dysplasia which were mainly hypertelorism, thin eyebrows and small palpebral fissures. Some patients had dental anomalies, ametropia and allergy, and a few were combined with immune impairment, but without overt signs of immunodeficiency. Only one patient had multisystem anomalies and profound immune deficiency. Conclusions: BCL11B is essential for development of the nervous and the immune system. In this study, the de novo mutation of BCL11B gene resulted in neurodevelopmental and immunological disorders.

[Targeted-knockdown of Yes-associated protein inhibits the Warburg effect and the invasion of laryngeal cancer cells].

Objective: To investigate the migration and invasion behaviors of Hep-2 after the targeted knockdown of yes-associated protein (YAP). Methods: Hep-2 cells were knock-downed for YAP by shRNA as YAP-shRNA group, Hep-2 treated with non-specific shRNA as YAP-NC group, and Hep-2 with no treatment as control. Glucose uptake and lactate production in the cells were examined to assess Warburg effect. The migration and invasion behaviors of cells in three groups were observed. The expressions of vimentin and E-cadherin were detected by RT-PCR and Western Blot. The statistical software GraphPad Prism 7.0 was used to analyze significance of data. Two tailed Student' s t-tests was used to determine significance when only two groups were compared. P values of less than 0.05 was considered statistically significant. Results: Downregulation of YAP led to a obvious decrease in glucose uptake [(18.51±1.72)%] and lactate production [103.40±8.32] in Hep-2 cells compared with control [(41.20±1.11)% and 743.69±19.49, t=19.20 and 52.33, respectively, both P<0.01] and YAP-NC group [(39.60±0.78)% and 705.22±17.20, t=19.34 and 54.56, respectively, both P<0.01]. Compared with the control group (78.32±4.04) and YAP-NC group (77.28±3.11), the scratch healing ability of Hep-2 cells was significantly decreased in YAP-shRNA group (44.71±4.68). The P value was less than 0.01 (t=9.42 and 10.04). The number of cells with YAP-shRNA (33.30±4.19) passing through compartments was remarkable fewer than the control group (133.71±6.72) and YAP-NC group (126.32±4.21). The P value was less than 0.01 (t=21.96 and 27.13). The expression of E-cadherin protein in cells of YAP-shRNA group (6.16±0.11) was up-regulated compared with control (0.97±0.10, t=35.70, P<0.01) and YAP-NC group (1.13±0.09, t=36.28, P<0.01), while the expression of vimentin protein in cells of YAP-shRNA group (1.08±0.09) was down-regulated compared with control (5.67±0.12, t=29.91, P<0.01) and YAP-NC group (5.51±0.12, t=29.04, P<0.01). Conclusions: The down-regulation of YAP in Hep-2 inhibits the migration and invasion of cells via suppressing Warburg and EMT program.

Proteolipid protein is necessary in peripheral as well as central myelin.

Alternative products of the proteolipid protein gene (PLP), proteolipid protein (PLP) and DM20, are major components of compact myelin in the central nervous system, but quantitatively minor constituents of Schwann cells. A family with a null allele of PLP has a less severe CNS phenotype than those with other types of PLP mutations. Moreover, individuals with PLP null mutations have a demyelinating peripheral neuropathy, not seen with other PLP mutations of humans or animals. Direct analysis of normal peripheral nerve demonstrates that PLP is localized to compact myelin. This and the clinical and pathologic observations of the PLP null phenotype indicate that PLP/DM20 is necessary for proper myelin function both in the central and peripheral nervous systems.