Acute hepatic porphyria （AHP） is a rare disease with abnormal heme metabolism， and breakthroughs have been made in the treatment of this disease in recent years. In addition to conventional treatment methods， this article reviews new therapies for AHP that are in the stage of initial clinical application or are still in the research stage， including RNAi therapy， enzyme replacement therapy， genetic supplementation of DNA or mRNA， drug molecular chaperones， and glycine transporter inhibitors for reducing heme synthesis. Moreover， this article also reviews the treatment of AHP-related comorbidities and complications， such as hyponatremia and posterior reversible encephalopathy syndrome. High glucose infusion is the main treatment method for AHP in China， and the improvement in diagnosis and increased attention to rare diseases in China has promoted the development of the diagnosis and treatment of AHP， and it is expected to explore more suitable treatment methods for AHP in the Chinese population in the future.

Objective: To identify the risk factors in mortality of pediatric acute respiratory distress syndrome (PARDS) in pediatric intensive care unit (PICU). Methods: Second analysis of the data collected in the "efficacy of pulmonary surfactant (PS) in the treatment of children with moderate to severe PARDS" program. Retrospective case summary of the risk factors of mortality of children with moderate to severe PARDS who admitted in 14 participating tertiary PICU between December 2016 to December 2021. Differences in general condition, underlying diseases, oxygenation index, and mechanical ventilation were compared after the group was divided by survival at PICU discharge. When comparing between groups, the Mann-Whitney U test was used for measurement data, and the chi-square test was used for counting data. Receiver Operating Characteristic (ROC) curves were used to assess the accuracy of oxygen index (OI) in predicting mortality. Multivariate Logistic regression analysis was used to identify the risk factors for mortality. Results: Among 101 children with moderate to severe PARDS, 63 (62.4%) were males, 38 (37.6%) were females, aged (12±8) months. There were 23 cases in the non-survival group and 78 cases in the survival group. The combined rates of underlying diseases (52.2% (12/23) vs. 29.5% (23/78), χ²=4.04, P=0.045) and immune deficiency (30.4% (7/23) vs. 11.5% (9/78), χ²=4.76, P=0.029) in non-survival patients were significantly higher than those in survival patients, while the use of pulmonary surfactant (PS) was significantly lower (8.7% (2/23) vs. 41.0% (32/78), χ²=8.31, P=0.004). No significant differences existed in age, sex, pediatric critical illness score, etiology of PARDS, mechanical ventilation mode and fluid balance within 72 h (all P>0.05). OI on the first day (11.9(8.3, 17.1) vs.15.5(11.7, 23.0)), the second day (10.1(7.6, 16.6) vs.14.8(9.3, 26.2)) and the third day (9.2(6.6, 16.6) vs. 16.7(11.2, 31.4)) after PARDS identified were all higher in non-survival group compared to survival group (Z=-2.70, -2.52, -3.79 respectively, all P<0.05), and the improvement of OI in non-survival group was worse (0.03(-0.32, 0.31) vs. 0.32(-0.02, 0.56), Z=-2.49, P=0.013). ROC curve analysis showed that the OI on the thind day was more appropriate in predicting in-hospital mortality (area under the curve= 0.76, standard error 0.05,95%CI 0.65-0.87,P<0.001). When OI was set at 11.1, the sensitivity was 78.3% (95%CI 58.1%-90.3%), and the specificity was 60.3% (95%CI 49.2%-70.4%). Multivariate Logistic regression analysis showed that after adjusting for age, sex, pediatric critical illness score and fluid load within 72 h, no use of PS (OR=11.26, 95%CI 2.19-57.95, P=0.004), OI value on the third day (OR=7.93, 95%CI 1.51-41.69, P=0.014), and companied with immunodeficiency (OR=4.72, 95%CI 1.17-19.02, P=0.029) were independent risk factors for mortality in children with PARDS. Conclusions: The mortality of patients with moderate to severe PARDS is high, and immunodeficiency, no use of PS and OI on the third day after PARDS identified are the independent risk factors related to mortality. The OI on the third day after PARDS identified could be used to predict mortality.
Female ; Male ; Humans ; Child, Preschool ; Infant ; Child ; Critical Illness ; Pulmonary Surfactants/therapeutic use* ; Retrospective Studies ; Risk Factors ; Respiratory Distress Syndrome/therapy*

Atrial Appendage/surgery* ; Atrial Fibrillation/surgery* ; Cardiac Catheterization ; Humans ; Septal Occluder Device ; Treatment Outcome

Objective:To investigate clinical significance of Presepsin(soluble CD14 subtype) in the diagnosis and condition assessment of sepsis in children compared with traditional biomarkers.Methods:For the prospective study, 102 children with sepsis admitted to the PICU of the Children′s Hospital of the Capital Institute of Pediatrics from January 2017 to December 2018 were selected, including 57 cases in the sepsis group, 45 cases in the severe sepsis/septic shock group and 25 cases in the non-infectious systemic inflammatory response syndrome(SIRS group), and 35 children with healthy physical examination during the same period as the control group.The sepsis group was further divided into the survival group( n=86)and the death group( n=16)based on the 28-day mortality.The data collected included serum Presepsin, procalcitonin(PCT), C-reaction protein(CRP) and interleukin(IL)-6 levels on days 1, 3 and 7 of admission, and compared with paediatric critical case scores. Results:(1)The levels of serum Presepsin [12.43(7.21, 15.07) ng/mL], PCT [23.00(5.70, 87.00) ng/mL], CRP [160.0(105.5, 200.0) mg/L], IL-6 [1 000.0(125.0, 1, 000.0) pg/mL] were significantly higher than those in the sepsis, SIRS and control groups( P<0.001). (2) The area under the ROC curve(AUC) values for Presepsin, PCT, and IL-6 subjects on day 1 of admission were 0.856, 0.812, and 0.516, respectively.The sensitivity of Presepsin at a cut-off value of 4.40 ng/mL for the diagnosis of sepsis was 81.1% and the specificity was 72.3%, which would significantly higher diagnostic efficacy of the combination of Presepsin, PCT and IL-6.(3) There was a significant difference between the survival and death groups in Presepsin( P<0.001), and Presepsin was significantly higher in the death group on days 3 and 7 than those in the survival group(both P<0.001); IL-6 was significantly higher in the death group on day 3 than that in the survival group( P=0.04); the differences in PCT and CRP between the death and survival groups at all time points were not statistically significant(both P>0.05 ). (4) The AUCs of inflammatory factors on days 1, 3 and 7 to predict sepsis outcome were 0.597, 0.656 and 0.951 for Presepsin, 0.576, 0.613 and 0.655 for PCT and 0.726, 0.786 and 0.664 for IL-6, respectively.The diagnostic values of Presepsin on day 7 and IL-6 on days 1 and 3 were higher.The combination of Presepsin, PCT and IL-6 significantly improved the prognostic judgment of sepsis.(5) The difference between sepsis-related acute kidney injury(AKI) and non-AKI was not statistically significant when comparing Presepsin on day 1 and 3(all P>0.05). Presepsin levels on day 7 were significantly higher in children with sepsis-associated AKI than in those without AKI( P<0.001). Conclusion:Presepsin is a good biomarker for sepsis diagnosis in children, which is equivalent to PCT in the diagnosis of sepsis, superior to IL-6 and superior to PCT in the prognosis evaluation.Combined testing of Presepsin, PCT and IL-6 may improve the diagnosis of sepsis and the assessment of the condition in children.

OBJECTIVE: To investigate the correlation between the quadriceps cross-sectional area (CSA) and quadriceps muscle volume (QMV) at different horizontal levels from the upper edge of the patella, and to determine the best observation position. METHODS: Thigh magnetic resonance imaging (MRI) images of 22 Chinese young men [age: (29±6) years] with anterior cruciate ligament (ACL) rupture were examined. The CSA was measured at 18, 15, and 12 cm above the upper edge of the pate-lla (denoted by CSA-18, CSA-15 and CSA-12 respectively), and the QMV and CSA were determined by semiautomatic segmentation. A curve model was established to estimate QMV. Bland-Altman analysis was performed to determine the confidence limits of the volumes. RESULTS: On the unaffected side, the mean QMV was (1 944.45±323.77) cm³. The quadriceps CSA at the upper edge of the patella at 18, 15, and 12 cm was (80.80±12.16) cm², (77.53±12.03) cm², and (72.68±10.51) cm², respectively. The coefficients of determination (R²), ascertained using curve estimation models, for the 3 positions were 0.819, 0.755, and 0.684 (P < 0.001), and the standard deviations of the volume estimated value (SEE) were 7.4%, 8.7%, and 9.8%. The fitting equations of the three horizontal positions were all good, but the fitting degree of CSA-18 was the highest. The Bland-Altman scatter plot showed that the arithmetic means of the QMV at 18, 15 and 12 cm from the upper edge of the patella 0.8 cm³, -1.1 cm³, and 0.9 cm³ and 95% limits of agreement (LoA) were (-268.8, 270.5), (-315.2, 313.1), and (-355.7, 357.5), respectively. The estimated QMV was in good agreement with the measured value. The difference between the estimated CSA-18 and measured values was the smallest. The results on the affected side were consistent. CONCLUSION The correlation between QMV and CSA in the young men with the upper edge of patella as baseline was reliable and consistent. Among them, CSA-18 had the highest correlation with the QMV. However, different observation sites could be selected for different injuries of the quadriceps.
Adult ; Anterior Cruciate Ligament Injuries/surgery* ; Anterior Cruciate Ligament Reconstruction ; Humans ; Magnetic Resonance Imaging ; Male ; Patella ; Quadriceps Muscle/diagnostic imaging* ; Young Adult

OBJECTIVE: To explore the stress distribution characteristics of the graft after anterior cruciate ligament (ACL) reconstruction, so as to provide theoretical reference for the surgical plan of ACL reconstruction. METHODS: Based on 3D MRI and CT images, finite element models of the uninjured knee joint and knee joint after ACL reconstruction were established in this study. The uninjured knee model included femur, tibia, fibula, medial collateral ligament, lateral collateral ligament, ACL and posterior cruciate ligament. The ACL reconstruction knee model included femur, tibia, fibula, medial collateral ligament, lateral collateral ligament, ACL graft and posterior cruciate ligament. Linear elastic material properties were used for both the uninjured and ACL reconstruction models. The elastic modulus of bone tissue was set as 17 GPa and Poisson' s ratio was 0.36. The material properties of ligament tissue and graft were set as elastic modulus 390 MPa and Poisson's ratio 0.4. The femur was fixed as the boundary condition, and the tibia anterior tension of 134 N was applied as the loading condition. The stress states of the ACL of the intact joint and the ACL graft after reconstruction were solved and analyzed, including tension, pressure, shear force and von Mises stress. RESULTS: The maximum compressive stress (6.34 MPa), von Mises stress (5.9 MPa) and shear stress (1.83 MPa) of the reconstructed ACL graft were all at the anterior femoral end. It was consistent with the position of maximum compressive stress (8.77 MPa), von Mises stress (8.88 MPa) and shear stress (3.44 MPa) in the ACL of the intact knee joint. The maximum tensile stress of the graft also appeared at the femoral end, but at the posterior side, which was consistent with the position of the maximum tensile stress of ACL of the uninjured knee joint. More-over, the maximum tensile stress of the graft was only 0.88 MPa, which was less than 2.56 MPa of ACL of the uninjured knee joint. CONCLUSION The maximum compressive stress, von Mises stress and shear stress of the ACL graft are located in the anterior femoral end, and the maximum tensile stress is located in the posterior femoral end, which is consistent with the position of the maximum tensile stress of the ACL of the uninjured knee joint. The anterior part of ACL and the graft bore higher stresses than the posterior part, which is consistent with the biomechanical characteristics of ACL.
Anterior Cruciate Ligament Injuries/surgery* ; Anterior Cruciate Ligament Reconstruction ; Biomechanical Phenomena ; Femur/surgery* ; Finite Element Analysis ; Humans ; Knee Joint/surgery* ; Tibia/surgery*

Gastrectomy ; Humans ; Lymph Node Excision ; Lymph Nodes ; Lymphatic Metastasis ; Retrospective Studies ; Stomach Neoplasms/surgery*

OBJECTIVE: To provide new concepts of anterior cruciate ligament (ACL) reconstruction by anatomical gross observation of ACL tibial insertion and finite element analysis of distribution of ACL mechanical insertion. METHODS: In the anatomical study, ten fresh adult cadaveric knees were dissected, including 6 males and 4 females, all knees were generally observed through standard medial parapatellar approaches, paying attention to the close anatomical relationship of tibial insertion and anterior horn of lateral meniscus, and ACL was exposed and gradually removed from the inside. The shape of tibial insertion of ACL was observed and recorded, and anterior-posterior diameters and left-right diameters of tibial insertion were measured with vernier caliper. For the study of finite element analysis, three-dimensional thin-layer magnetic resonance imaging of normal knee joint was used to establish knee joint model. Three-dimensional reconstruction software MIMICS and finite element analysis software ANSYS were used to establish knee joint model, subsequently, clinical physical examination Lachman test and pivot-shift test were simulated to observe the force distribution of ACL tibial insertion and femoral insertion. RESULTS: The ACL tibial mechanical insertion was rather flat and long similar as an arc shape without a clear separation between anterior medial bundle (AMB) and posterolateral bundle (PLB) in gross observation. The dense fibers lies belonged to the medial intercondylar ridge and ended up anterior with the osseous landmark of anterior ridge. Its average anterior-posterior diameter was (13.8±2.0) mm, the average left-right diameter of midsubstance was (5.3±0.6) mm, and the average left-right diameter of anterior margin was (11.5±1.2) mm. The finite element analysis showed that distribution on the femoral side was oval shape mainly below the residents' ridge, while the tibial side was rather flat mainly along the medial intercondylar ridge, which was consistent with the anatomical observation. The biomechanical characteristics of ACL attachments were verified theoretically. CONCLUSION Anatomical study and finite element analysis have confirmed the flat arc shape of ACL tibial insertion. The ideal reconstruction technique of ACL should be based on its biomechanical insertion. Based on anatomical study and biomechanical analysis, we have proposed the idea of ACL biomechanical insertion reconstruction (BIR) and established a surgical model with oval femoral tunnel and rounded-rectangle tibial tunnel.
Anterior Cruciate Ligament ; Anterior Cruciate Ligament Reconstruction ; Biomechanical Phenomena ; Cadaver ; Female ; Finite Element Analysis ; Humans ; Knee Joint ; Male ; Tibia

Objective: To obtain recombinant major surface glycoprotein(rMsg)of Pneumocystis jirovecii(Pj) and survey anti-Pj rMsg IgG and IgM antibodies using enzyme-linked immunosorbent assay (ELISA) among randomly selected sera from Beijing local children under 14 years of age. Methods: ELISA method were established to detect anti-Pj rMsg IgG and IgM antibodies. We randomly selected sera of 201 cases who were under 14 years of age were screened. Results: There were 78 cases in the age group of 1 day to 30 days, 33 cases in the group of 1 month to 12 months, and 90 cases in the group of 1 year to 14 years. The positive rates of anti-Pj rMsg IgG antibody in these three age groups were 10.3%(8/78), 21.2%(7/33), and 41.1%(37/90)respectively(χ²=21.190, P=0.000). The positive rates of anti-Pj rMsg IgM antibody were 6.4%(5/78), 39.4%(13/33), and 76.7%(69/90)respectively(χ²=84.260, P=0.000). The overall positive rates of anti-Pj rMsg IgG and IgM antibodies were 25.9%(52/201)and 43.3%(87/201)respectively(χ²=53.463, P=0.000). Among these, simultaneously IgG positive IgM positive, IgG positive IgM negative, IgG negative IgM positive and IgG negative IgM negative rates were 22.4%(45/201), 3.5%(7/201), 20.9%(42/201), and 53.2%(107/201)respectively. Conclusions The overall serological response rate after Pj exposure, either anti-Pj IgG or IgM antibody positive, was as high as 46.8% in children under 14 years of age in Beijing area. The positive rates of anti-rMsg IgG and IgM antibodies increased with age, with highest rate in age group of more than one years old.