The patient was a boy aged 1 year and 9 months who presented with 46,XY disorder of sex development (DSD), with severe undermasculinization of the external genitalia. Laboratory tests and ultrasound examinations showed normal functions of Leydig cells and Sertoli cells in the testes. Genetic testing revealed a novel pathogenic heterozygous variant, c.1186dupA (p.T396Nfs*17), in the PPP1R12A gene. Thirteen cases of PPP1R12A gene variants have been reported previously. These variants may cause isolated involvement of the genitourinary or neurological systems, or affect other systems/organs including the digestive tract, eyes, heart, etc. Patients with DSD typically present with a 46,XY karyotype and variable degrees of undermasculinization involving the external genitalia, gonads, and reproductive tract. This article reports a child with 46,XY DSD accompanied by growth retardation caused by a heterozygous variant in the PPP1R12A gene, which expands the clinical disease spectrum associated with PPP1R12A gene variants.
Humans ; Male ; Infant ; Disorder of Sex Development, 46,XY/etiology* ; Protein Phosphatase 1/genetics*

Objective To explore clinical effect of closed reduction percutaneous elastic intramedullary nail assisted by arthrography in the treatment of radial neck fracture in children.Methods A retrospective analysis was performed on 23 chil-dren with radial neck fracture treated with arthrography assisted closed reduction and percutaneous elastic intramedullary nail internal fixation(arthrography with elastic nail group)from January 2019 to December 2022,including 12 males and 11 fe-males,aged from 2 to 12 years old with an average of(7.36±1.89)years old;According to Judet fracture types,14 children were type Ⅲ and 9 children were type Ⅳ.In addition,23 children with radial neck fracture were selected from January 2015 to December 2018 who were treated with closed reduction and percutaneous elastic intramedullary nail fixation(elastic nail group),including 11 males and 12 females,aged from 2 to 14 years old with an average of(7.50±1.91)years old;Judet classi-fication included 15 children were type Ⅲ and 8 children were type Ⅳ.Operative time and intraoperative fluoroscopy times were compared between two groups.Metaizeau evaluation criteria was used to evaluate fracture reduction,and Tibone-Stoltz evaluation criteria was used to evaluate functional recovery of elbow between two groups.Results Both groups were followed up for 12 to 24 months with an average of(16.56±6.34)months.Operative time and intraoperative fluoroscopy times of elastic nail group were(56.64±19.27)min and(21.13±7.87)times,while those of joint angiography with elastic nail group were(40.33±1 1.50)min and(12.10±3.52)times;there were difference between two groups(P＜0.05).According to Metaizeau evaluation,11 patients got excellent result,9 good and 3 fair in joint angiography with elastic nail group,while in elastic nail group,5 ex-cellent,13 good,4 acceptable,and 1 poor;the difference between two groups was statistically significant(P＜0.05).According to Tibone-Stoltz criteria,14 patients got excellent result,8 good,and 1 fair in joint arthrography with elastic nail group;while in elastic nail group,12 patients got excellent result,9 good,1 fair and 1 poor;there was no significant difference between two groups(P＞0.05).Conclusion Compared to percutaneous elastic intramedullary nail fixation,closed reduction assisted by arthrography has advantages of reduced operation time,decreased intraoperative fluoroscopy frequency,and improved fracture reduction.Arthrography enables clear visualization of the anatomical structures of radius,head,neck,bone,and cartilage in children,facilitating comprehensive display of fracture reduction and brachioradial joint alignment.This technique more pre-cisely guides the depth of elastic intramedullary nail implantation in radius neck,thereby enhancing surgical efficiency and success rate.

This study was aimed at studying the phenotypic and molecular characteristics of a Salmonella Grumpensis isolate from a patient with diarrhea in Shanghai,to provide evi-dence for the prevention of salmonellosis.Biochemical identifi-cation,serum agglutination testing,antimicrobial susceptibility testing,and whole genome sequencing(WGS)were performed on isolate 2023JD76.Global Salmonella Grumpensis genome sequences were searched and downloaded for serotyping predic-tion,multilocus sequence typing(MLST),prediction of anti-microbia resistance genes and virulence genes,and phylogenetic analysis of 2023JD76.The 2023JD76 strain was identified as Salmonella Grumpensis(13,23:d:1,7)with ST2060,and was susceptible to 20 antimicrobial agents.Strain 2023JD76 carried the aminoglycoside resistance gene aac(6')-Iaa and five types of virulence genes:the adhesion genes csg and rat;the secretion and transport genes sip and inv;the typhoid toxin genes cdt and plt;the invasive gene nutrient metabolism factor mgt;and the antimicrobial peptide resistance factor mig.Global S.Grumpensis strains harbored ten types of antimicrobial resistance genes whose prevalence ranged from 58.33％to 100％.The global genome sequences of S.Grumpensis were divided into two lineages.Lineage I was dominated by ST751(88.89％,16/18),and lineage Ⅱ was dominated by ST2060(89.47％,17/19).The genome sequence of strain 2023JD76 belonged to lineage Ⅱ,and was closely related to the genome sequences from human fecal and human cerebrospinal fluid.This study provides the first report of a S.Grumpensis isolate from the stool of a patient with diarrhea in China.Considerable variability in antimicrobial resistance genes was observed among genome sequences from different sources,and the strains harbored a substantial number of virulence genes.Enhanced surveillance should be emphasized to prevent a potential risk of global dissemination.

Objective:To investigate the effects of different concentrations of Qilan Prescription(QLP)on the proliferation and apoptosis of human PCa DU145 cells and its underlying mechanism.Methods:We treated human PCa DU145 cells with QLP at 400,200,100,50,25,12.5,6.25,3.125 or 1.56 μg/ml for 24,48 and 72 hours respectively.Then we observed the morphologi-cal changes of the cells,examined their viability by CCK-8 assay,detected their cell cycle and apoptosis by flow cytometry,and deter-mined the protein expressions of cyclin D1,Bax,Bcl-2 and cleaved-caspase 3 in the DU145 cells by Western blot,followed by com-parison of the parameters with those obtained from the blank control group.Results:QLP significantly inhibited the growth,reduced the contour clarity and adhesion ability of the DU145 cells at the concentrations of 100,200 and 400 μg/ml,and markedly decreased the activity of the cells at 200 and 400 μg/ml,most significantly at 400 μg/ml.The number of the G2-phase DU145 cells was dramat-ically increased in all the concentration groups(P＜0.01),so was the total number of apoptotic DU145 cells(P＜0.01),while that of the S-phase cells remarkably decreased in the 400 μg/ml QLP(P＜0.01)and 200 μg/ml QLP(P＜0.05)groups.The ex-pression of the cyclin D1 protein was significantly down-regulated in the 400 μg/ml QLP group(P＜0.01).That of Bcl-2 was also down-regulated(P＜0.01)while those of Bax and cleaved-caspase 3 up-regulated in the 400 and 200 μg/ml QLP groups(P＜0.01).Conclusion:QLP can inhibit the proliferation and promote the apoptosis of human PCa DU145 cells,which may be associat-ed with its effects of down-regulating the expression of the cell cycle-related protein cyclin D1,disrupting the Bax-Bcl-2 balance,and up-regulating the expression of cleaved-caspase 3.

OBJECTIVE: To investigate the clinical characteristics and risk factor analysis of necrotizing pneumonia in children. METHODS: A retrospective study was used to analyze the case data of 218 children with severe pneumonia hospitalized in the Department of Respiratory Medicine, Children's Hospital of Capital Institute of Pediatrics from January 2016 to January 2020, and they were divided into 96 cases in the necrotizing pneumonia group (NP group) and 122 cases in the non-necrotizing pneumonia group (NNP group) according to whether necrosis of the lung occurred. The differences in clinical characteristics (malnutrition, fever duration, hospitalization time, imaging performance, treatment and regression follow-up), laboratory tests [leukocytes, neutrophil ratio, platelet (PLT), C-reactive protein (CRP), procalcitonin (PCT), D-dimer, and lactate dehydrogenase (LDH)] and bronchoscopic performance between the two groups were compared, and Logistic regression analysis of clinical risk factors associated with necrotizing pneumonia was performed to further determine the maximum diagnostic value of each index by subject operating characteristic curve (ROC). The critical value of each index was further determined by the ROC. RESULTS: The differences in age, gender, pathogenic classification, and bronchoscopic presentation between the two groups of children were not statistically significant (P>0.05); whereas the imaging uptake time of the children in the NP group was higher than that in the NNP group (P < 0.05). The differences in malnutrition, fever duration, length of stay, white blood cell count, neutrophil ratio, CRP, PCT, and D-dimer were statistically significant between the two groups (P < 0.05). The imaging uptake time was lower in children under 6 years of age than in those over 6 years of age, and the imaging uptake time for bronchoalveolar lavage within 10 d of disease duration was lower than that for those over 10 d; the imaging uptake time was significantly longer in the mixed infection group than that in the single pathogen infection group. Logistic regression analysis of the two groups revealed that the duration of fever, hospital stay, CRP, PCT, and D-dimer were risk factors for secondary pulmonary necrosis (P < 0.001, P < 0.001, P < 0.001, P=0.013, P=0.001, respectively). The ROC curves for fever duration, CRP, PCT, and D-dimer were plotted and found to have diagnostic value for predicting the occurrence of pulmonary necrosis when fever duration >11.5 d, CRP >48.35 mg/L, and D-dimer > 4.25 mg/L [area under ROC curve (AUC)=0.909, 0.836, and 0.747, all P < 0.001]. CONCLUSION Children with necrotizing pneumonia have a longer heat course and hospital stay, and the imaging uptake time of mixed pathogenic infections is significantly longer than that of single pathogenic infections. Children with necrotizing pneumonia under 6 years of age have more advantageous efficacy of electronic bronchoscopic alveolar lavage within 10 d of disease duration compared with children in the group over 6 years of age and children in the group with disease duration >10 d. Inflammatory indexes CRP, PCT, and D-dimer are significantly higher. The heat course, CRP, PCT, and D-dimer are risk factors for secondary lung necrosis in severe pneumonia. Heat course >11.5 d, CRP >48.35 mg/L, and D-dimer >4.25 mg/L have high predictive value for the diagnosis of necrotizing pneumonia.
C-Reactive Protein/analysis* ; Child ; Child, Preschool ; Humans ; Malnutrition ; Necrosis ; Pneumonia/diagnosis* ; Pneumonia, Necrotizing ; Prognosis ; ROC Curve ; Retrospective Studies ; Risk Factors

Coronary Angiography ; Coronary Disease ; Humans ; Liver ; Non-alcoholic Fatty Liver Disease/complications*

Objective: To analyze the influencing factors of iron metabolism assessment in patients with myelodysplastic syndrome. Methods: MRI and/or DECT were used to detect liver and cardiac iron content in 181 patients with MDS, among whom, 41 received regular iron chelation therapy during two examinations. The adjusted ferritin (ASF) , erythropoietin (EPO) , cardiac function, liver transaminase, hepatitis antibody, and peripheral blood T cell polarization were detected and the results of myelofibrosis, splenomegaly, and cyclosporine were collected and comparative analyzed in patients. Results: We observed a positive correlation between liver iron concentration and ASF both in the MRI group and DECT groups (r=0.512 and 0.606, respectively, P<0.001) , only a weak correlation between the heart iron concentration and ASF in the MRI group (r=0.303, P<0.001) , and no significant correlation between cardiac iron concentration and ASF in the DECT group (r=0.231, P=0.053) . Moreover, transfusion dependence in liver and cardiac [MRI group was significantly associated with the concentration of iron in: LIC: (28.370±10.706) mg/g vs (7.593±3.508) mg/g, t=24.30, P<0.001; MIC: 1.81 vs 0.95, z=2.625, P<0.05; DECT group: liver VIC: (4.269±1.258) g/L vs (1.078±0.383) g/L, t=23.14, P<0.001: cardiac VIC: 1.69 vs 0.68, z=3.142, P<0.05]. The concentration of EPO in the severe iron overload group was significantly higher than that in the mild to moderate iron overload group and normal group (P<0.001) . Compared to the low-risk MDS group, the liver iron concentration in patients with MDS with cyclic sideroblasts (MDS-RS) was significantly elevated [DECT group: 3.80 (1.97, 5.51) g/L vs 1.66 (0.67, 2.94) g/L, P=0.004; MRI group: 13.7 (8.1,29.1) mg/g vs 11.6 (7.1,21.1) mg/g, P=0.032]. Factors including age, bone marrow fibrosis, splenomegaly, T cell polarization, use of cyclosporine A, liver aminotransferase, and hepatitis antibody positive had no obvious effect on iron metabolism. Conclusion: There was a positive correlation between liver iron concentration and ASF in patients with MDS, whereas there was no significant correlation between cardiac iron concentration and ASF. Iron metabolism was affected by transfusion dependence, EPO concentration, and RS.
Ferritins ; Humans ; Iron ; Iron Overload ; Liver/metabolism* ; Myelodysplastic Syndromes/therapy* ; Primary Myelofibrosis ; Retrospective Studies ; Splenomegaly

[Abstract] Objective To investigate the effect of rutin (Rut) on sciatic nerve myelin injury induced by acrylamide(ACR), and to observe the changes of myelin structure, myelin basic protein (MBP) and myelin associated glycoprotein (MAG) in rats exposed to ACR. Methods Thirty-six adult male SD rats were randomly divided into 4 groups: control group (ddH

Clear cell renal cell carcinoma (ccRCC) has been proved to be a metabolic disease with high

The polymyxins are important antimicrobial agents against antibiotic-resistant gram-negative bacilli. In 2020, the Clinical and Laboratory Standards Institute modified the clinical breakpoints for polymyxin susceptibility test by eliminating the "susceptible" interpretive category, only reporting intermediate (≤2 mg/L) and resistant (≥4 mg/L). However, the European Committee on Antimicrobial Susceptibility Testing recommended the use of clinical breakpoints of ≤2 mg/L as susceptible and >2 mg/L as resistant. The first-line laboratorians and clinicians in China have been perplexed by the inconsistence of international polymyxin clinical breakpoints and discouraged by the difficulty of conducting polymyxin susceptibility testing. Therefore, it is urgently needed to make it clear for the laboratorians in China to know how to accurately carry out polymyxin susceptibility testing and standardize the interpretation of susceptibility testing results. To this end, the experts from relevant fields were convened to formulate this consensus statement on the testing and clinical interpretation of polymyxin susceptibility. Relevant recommendations are proposed accordingly for laboratorians and clinicians to streamline their daily work.