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《YiNanBing ZaZhi》2024 Vol.22,No.04
  • Clinical value of serum IL-41 and ACE2 levels in the diagnosis of pediatric Kawasaki disease
    Author:Jin Cheng,Lu Dong-hui,Zhang Liuliu,Xie Jin. keyword:Kawasaki disease; Interleukin 41; Angiotensin-converting enzyme 2; Diagnosis; Children
    Objective To explore the expression level of serum interleukin 41 ( IL-41) and angiotensin-converting enzyme2 ( ACE2) and the clinical diagnostic value of pediatric Kawasaki disease ( KD) . Methods Eighty cases of KD children diagnosed and treated in the Department of General Pediatrics of Hefei Maternal and Child Health Hospital from December 2018 to December 2022 were selected as the KD group,which were divided into the coronary artery lesion ( CAL) subgroup according to echocardio-graphic results ( n = 26) and the non-CAL subgroup ( n = 54) ,with children with acute upper respiratory tract infection with fever in the same period as control group 2 ( n = 40) and children with inguinal hernia undergoing elective surgery in the same period as con-trol group 1 ( n = 40) . The enzyme-linked immunosorbent assay was used to detect the levels of serum IL-41 and ACE2; Pearson'scorrelation was used to analyze the correlation between serum IL-41 and ACE2 and the clinical data; multifactorial logistic regression was used to analyze the factors affecting the occurrence of CAL in children with KD; and the working characteristic curves of the
    subjects were plotted to analyze the value of serum IL-41 and ACE2 in predicting the occurrence of CAL in children with KD.The working characteristic curves of subjects were plotted to analyze the value of serum IL-41 and ACE2 in predicting CAL in children with KD. Results Comparison of serum IL-41 and ACE2 levels were as follows: KD group > control 2 group >control 1 group,and the differences were statistically significant ( F / P = 519. 731 / < 0. 001,1 115. 501 / < 0. 001) ; IL-41 and ACE2 levels of KD children were positively correlated with fever duration,C-reactive protein and calcitoninogen ( IL-41:r / P = 0. 562 / < 0. 001,0. 589 / < 0. 001,0. 613 / < 0. 001; ACE2: r / P = 0. 622 / < 0. 001,0. 609 / < 0. 001,0. 574 / < 0.001) . The CAL subgroup had higher duration of fever,C-reactive protein,calcitoninogen,and IL-41,ACE2 were higher than those in the non-CAL subgroup,and the differences were statistically significant ( t / P = 3. 459 /0. 001,11. 187 / < 0. 001,11.377 / < 0. 001,12. 299 / < 0. 001,25. 882 / < 0. 001) . Elevated serum IL-41,ACE2,duration of fever,C-reactive protein,and calcitoninogen were independent risk factors affecting the development of CAL in children with KD [OR( 95% CI) = 1. 598( 1. 271 - 2. 010 ) , 1. 573 ( 1. 241 - 1. 994 ) , 1. 384 ( 1. 142 - 1. 667 ) , 1. 496 ( 1. 171 - 1. 912) , 1. 513( 1. 159 - 1. 975) ]. The AUCs of serum IL-41,ACE2 and the combination of the two predicted the occurrence of CAL in children with KD were 0. 812,0. 815,and 0. 878,respectively,and the AUCs of the combination of the two were greater than those of serum IL-41 and ACE2 single test ( Z / P = 5. 116 / < 0. 001,4. 217 /0. 009) . Conclusion Elevated serum IL-41 and ACE2 in children with KD are related to the duration of fever,C-reactive protein and calcitoninogen,and the combination of these two tests has a high predictive value for the occurrence of CAL in children with KD.
  • Predictive value of serum PON1 and 1,25( OH) 2 D3 in psoriasis patients with concomitant cardiovascular disease
    Author:Du Xiaoqing,Ma Yuxin,Yao Limin,He Qiang,Qi Yanning,Wei Bo. keyword:Psoriasis; Cardiovascular disease; Oxygen phosphodiesterase 1; 1,25 dihydroxyvitamin D3 ; Framingham score
    Objective To detect the levels of serum phosphorus oxysterase 1 ( PON1) and 1,25 dihydroxyvitamin D3 [1,25( OH) 2D3]and their predictive value of predictive value of concomitant cardiovascular disease ( CVD) in patients with psoriasis. Methods Eighty eight patients with psoriasis admitted to the Department of Dermatology,980 Hospital of the Joint Logistic Support Force of Chinese People's Liberation Army,from February 2018 to February 2022 were selected as the psoriasis group,which was subdivided into a mild subgroup according to the severity of the disease ( n = 34) ,a moderate subgroup ( n = 26) and severe subgroup ( n = 28) ; according to whether combined CVD was divided into non-CVD subgroup 63 cases and CVD subgroup 25 cases. Seventy cases of healthy people who underwent medical examination in the same period in the hospital were selected as the healthy control group. Enzyme-linked immunosorbent assay ( ELISA) was used to detect serum PON1 and 1,25( OH) 2D3 levels; differences in serum PON1 and 1,25( OH) 2D3 levels were compared among psoriasis patients with different degrees of disease; multifactorial Logistic Regression analysis of the factors affecting the complication of CVD in patients with psoriasis; analysis of the predictive value of serum PON1 and 1,25( OH) 2D3 on the complication of CVD in patients with psoriasis by working characteristic curve of the subjects. Results The serum PON1 and 1,25( OH) 2D3 levels in the psoriasis group were lower than those in the healthy control group ( t = 51. 008,25. 088,P < 0. 001) . Comparison of se-rum PON1 and 1,25( OH) 2D3 levels showed that mild subgroup > moderate subgroup > severe subgroup ( F = 207. 130,54. 240,P < 0. 001) ; high Framingham risk score ( FRS score) was an independent risk factor affecting patients with psoriasis complicating CVD,and elevated serum PON1 and 1,25 ( OH) 2D3 were protective factors [OR ( 95% CI) = 1. 791 ( 1. 294 - 2. 480) ,0. 623 ( 0. 493 - 0. 786) ,0. 630 ( 0. 495 - 0. 802) ]; serum PON1,1,25( OH) 2D3 and the combination of the two predicted the AUC of concurrent CVD in psoriasis patients to be 0. 815,0. 784,and 0. 878,respectively,and the AUC of the two combinations was higher than that of serum PON1 and 1,25( OH) 2D3 diagnosed alone,and the difference was statistically significant ( Z/P = 3. 124 / 0. 002,3. 349 /0. 001) . Conclusion The serum PON1 and 1,25( OH) 2D3 levels in psoriasis patients are related to the severity of the disease in psoriasis patients,which is expected to be used as a new indicator to evaluate the occurrence of CVD in psoriasis patients.
  • Silent TUFM regulates mitochondrial autophagy through the AMPK / mTOR signaling pathway and its effect on pul- monary arterial hypertension in a pulmonary heart disease model rat
    Author: Cui Benke ,Wang Yan,Lu Yunfeng,Du Juan, Zhai Yuhan. keyword:Pulmonary arterial hypertension; Mitochondrial translation elongation factor Tu; Smooth muscle cells; Mitochondrial autophagy; AMPK / mTOR pathway; Rats
    Objective To explore the mechanism by which mitochondrial translation elongation factor Tu ( TUFM)
    promotes vascular remodeling in pulmonary arterial hypertension ( PAH) through mitochondrial autophagy. Methods The ex-
    periment was conducted in the Central Laboratory of Liaoning Provincial People's Hospital from January 2022 to June 2023.
    Thirty-six healthy male Sprague Dawley rats were randomly divided into a blank control ( Ctrl) group,a model ( PAH) group,
    a TUFM overexpression ( OE) group,an OE negative control ( OE-NC) group,a short hairpin RNA ( Sh) knockout TUFM
    ​( Sh) group,and a Sh-NC negative control ( Sh-NC) group,with 6 rats in each group. Except for the Ctrl group,all other rats
    were given a one-time intraperitoneal injection of 1% monocrotaline ( 60 mg / kg) to induce cardiogenic pulmonary edema
    ( PAH) in a rat model. Rat pulmonary artery smooth muscle cells ( PASMC) were cultured under low oxygen ( 3% O 2 ) con-
    ditions for 24 hours to simulate the in vivo pulmonary arterial hypertension microenvironment. They were divided into normoxic
    ( Norm) group,hypoxic ( Hyp) group,small interfering RNA ( SiRNA-1 ) group,SiRNA-2 group,Si-NC group,OE-NC
    group,and OE group. Right heart catheterization and pulsed Doppler ultrasound were used to detect pulmonary hemodynamics
    in rats. Hematoxylin-eosin staining was used to detect the pathological structure of pulmonary arterioles. Immunofluorescence
    co staining was used to detect tissue localization of TUFM. Cell counting method is used to detect cell proliferation. Observa-
    tion of mitochondrial structure and autophagosomes using transmission electron microscopy. Protein immunoblotting was used to
    detect the expression of TUFM,autophagy,apoptosis,and adenosine phosphate activated protein kinase ( AMPK) / mammalian
    rapamycin target protein ( mTOR) pathway related proteins. Results Compared with the Ctrl group,the expression of TUFM
    protein in the PAH group rats increased and was mainly associated with PASMC markers α smooth muscle actin ( α- SMA) is
    co localized in the intima of pulmonary arterioles,but not with endothelial cell marker CD31. The pulmonary artery systolic
    pressure ( PASP) increases,the pulmonary artery acceleration time ( PAAT) shortens,the distal pulmonary arteriole wall
    shows concentric thickening,and the lumen is almost blocked. The expression of TUFM,benzyl chloride 1 recombinant pro-
    tein ( BECN1) ,human microtubule associated protein light chain 3 ( LC3) II / I,and B lymphocyte tumor 2 ( Bcl2) proteins
    increases,while the expression of P62,Bcl2 related X protein ( Bax) ,and apoptosis activating factor ( Apaf) proteins decrea-
    ses ( P < 0. 05) . Compared with the PAH group,the OE group showed an increase in PASP,a decrease in PAAT,an in-
    crease in pulmonary artery wall thickness,an increase in pulmonary artery TUFM,BECN1,LC3II / I,and Bcl2 expression,
    and a decrease in P62,Bax,and Apaf expression ( P < 0. 05) . Compared with the PAH group,the Sh group showed a de-
    crease in PASP,an increase in PAAT,an improvement in pulmonary artery wall thickness and luminal stenosis,a decrease in
    TUFM,BECN1,LC3II / I,and Bcl2 expression,and an increase in P62,Bax,and Apaf expression ( P < 0. 05) . Compared
    with the Norm group,the Hyp group showed an increase in TUFM protein expression in PASMC cells. Compared with the Si-
    NC group cells,the SiRNA-1 and SiRNA-2 groups showed increased expression of P62 and Bax proteins,decreased expression
    of BECN1,LC3II / I,Bcl2,and TUFM,intact mitochondrial structure,decreased proliferation activity of PASMC cells,de-
    creased expression of p-AMPK,and increased expression of p-mTOR ( P < 0. 05) . Compared with the OE-NC group,the ex-
    pression of P62 and Bax proteins was reduced in the OE group,while the expression of BECN1,LC3II / I,Bcl2,and TUFM
    was increased. Some mitochondria were damaged and collapsed,and cristae rupture disappeared. The proliferation activity of
    PASMC cells was significantly increased,and the expression of p-AMPK was increased and p-mTOR was decreased in cells
    ( P < 0. 05) . Conclusion Silencing TUFM can promote mitochondrial autophagy and accelerate apoptosis of PAH pulmonary
    artery smooth muscle cells by activating the AMPK / mTOR signaling pathway.
  • Finnish congenital nephrotic syndrome: a case report and literature review
    Author:Zhang Xing,Lin Xinyu,Wang Jiao,Fu Xiaowei,Zhang Liming. keyword: Finnish congenital nephrotic syndrome; NPHS1 gene; Diagnosis; Treatment
    Report the clinical data of a case of Finnish congenital nephrotic syndrome,and review the literature.
  • A case of X-linked intellectual disability caused by HUWE1 gene mutation combined with KDM5C gene mutation
    Author:Liu Qing,Chen Bo,Liu Chang. keyword: X-linked intellectual disability; HUWE1 gene; KDM5C gene; Genetic variation; Diagnosis; Treatment
    Report the clinical data of a patient with X-linked intellectual disability caused by a HUWE1 gene mutation
    combined with a KDM5C gene mutation,and review the literature.