Objective To investigate the expressions and clinical significance of Toll like receptor (TLR) 3 and TLR4 in peripheral blood mononuclear cells and renal tissues of children with primary IgA nephropathy.Methods A total of 34 children with primary IgA nephropathy were selected as the IgA nephropathy group,who were confirmed by renal biopsy,from the Department of Pediatrics,the First Affiliated Hospital of Xinxiang Medical University,from September 2014 to June 2016.In the same period,7 cases of renal tumor who underwent nephrectomy in Pediatric Surgery became control group A,and 10 cases of healthy children became control group B,and the expressions of TLR3 and TLR4 in renal tissue were detected by adopting immunohistochemistry between IgA nephropathy group and control group A,and the positive expression rate of TLR3 and TLR4 in peripheral blood mononuclear cells were detected by using flow cytometry in IgA nephropathy group.The expression of TLR3 and TLR4 in peripheral blood mononuclear cells of IgA nephropathy group and control group B were observed and compared.Results The expressions of TLR3 and TLR4 in renal tissue of IgA nephropathy group were respectively (68.28 ±6.37)％ and 0.048 ±0.018,which were significantly higher than TLR3 [(9.69 ±11.02)％] and TLR4 (0.003 ±0.001) in the control group A,and the differences were statistically significant (t =50.080,14.374,all P ＜ 0.01).The positive expressions of TLR3 and TLR4 in peripheral blood mononuclear cells of IgA nephropathy group were respectively (17.62 ± 8.33)％ and (23.85 ± 11.82)％,while the expressions were (0.31 ± 0.06) ％ and (3.02 ± 0.09) ％ respectively in the control group B,and the differences were statistically significant (t =12.109,11.612,all P ＜ 0.05).Conclusion The expressions of TLR3 and TLR4 in renal tissue and peripheral blood mononuclear cells of IgA nephropathy are increased,suggesting that the abnormal activation of TLR3 and TLR4 may be involved in the pathogenesis of IgA nephropathy.

Objective:To summarize the clinical and gene mutation characteristics of a child with Cowden syndrome and review the literature.Methods:The clinical data of a child with Cowden syndrome treated in the First Affiliated Hospital of Xinxiang Medical University in June 2020 were analyzed retrospectively.Taking " Cowden syndrome" , " PTEN gene" , " hamartoma polyps" , "child" , " Cowden syndrome and child" and " PTEN and child" as key words, literature was retrieved from Chinese databases (China National Knowledge Internet database and Wanfang database) and the PubMed database from the establishment of the database to March 2021. Results:A 13-year-old male had intermittent abdominal pain and abdominal distension for 5 months.Electron microscopic gastroenteroscopy showed multiple polyps, and focal lymphocyte aggregation and infiltration were found in tissue biopsy.Whole exon sequencing revealed a hemizygous mutation of c. 475 (exon5) A>T in PTEN gene, which led to the transformation of the 159 th amino acid from arginine to tryptophan.The prediction results of the tertiary structure of the protein indicated that the variation might affect the spatial structure of the protein and damage the protein function.According to the clinical characteristics, Cowden syndrome was diagnosed.The pedigree confirmed that the variation was inherited from the mother, who had a similar phenotype.No qualified Chinese report was retrieved.Among 41 English studies on PTEN gene mutation in children, there were only two reports related to pediatric Cowden syndrome.The hemizygous mutation of PTEN gene was not reported. Conclusions:The missense mutation of c. 475 (exon5) A>T in PTEN gene in this study is a novel cause of Cowden syndrome, and the case is the first case report in China.

Objective:To explore the characteristics, clinical manifestations and gene mutation types of Cornelia de Lange syndrome (CdLs), and to improve the understanding of the disease.Methods:Clinical data and gene test results of a pediatric case of CdLs diagnosed in the First Affiliated Hospital of Xinxiang Medical University in August 2019 were analyzed retrospectively.Results:A female patient with 2 years and 8 months old presented a special appearance with a low and flat nose, a wide eye distance, audition ears, a downward inclination of the mouth corner, a high arch of the jaw and a small jaw deformity, who had recurrent seizures, speech and mental retardation.The result of gene test showed the mutation of SMC1A gene c. 2923C > T, and thus the patient was diagnosed as type 2 CdLs. Conclusions:CdLs is a rare genetic metabolic disease with special facial features and physical signs.There is only one case of CdLs with gene mutation of SMC1A in China through literature review.The mutation of SMC1A gene c. 2923C>T in CdLs cases has not been reported at home and abroad, which expands the variation spectrum of the SMC1A gene.

Objective:To investigate the expression and significance of Toll-like receptor 4 (TLR4) in renal tissue and peripheral blood of children with idiopathic nephrotic syndrome(INS).Methods:The renal biopsy tissues of 78 children with INS diagnosed in the First Affiliated Hospital of Xinxiang Medical University from October 2015 to June 2018 and normal renal tissues of 21 children (control group 1) were collected, and the expressions of TLR4 in the renal tissue was detected by using immunohistochemical method.The expression of TLR4 in different renal pathological types and clinical types of INS was compared, and the correlation of TLR4 with 24-hour urinary protein and serum albumin was analyzed.The expression levels of TLR4 in peripheral blood of children with INS before and after treatment (active stage and remission stage) and 23 healthy children (control group 2) were detected by enzyme linked immunosorbent assay(ELISA). The serum expression levels of TLR4 in different renal pathological types and clinical types of INS were compared, and the correlation of TLR4 with 24-hour urinary protein and serum albumin was analyzed; The correlation between TLR4 expression in renal tubules and in the serum of children with INS was also analyzed.Results:(1)Compared with the expression of TLR4 in normal renal tissues[(0.93±0.26)%], the expression of TLR4 in glomeruli and interstitium of all pathological types of INS [mesangial proliferative glomerulonephritis (MsPGN): (0.93 ± 0.21)%, focal segmental glomerulosclerosis (FSGS): (1.02±0.25)%, membranous glomerulonephritis(MN): (1.03±0.09)%, minimal change disease(MCD): (1.02±0.27)%]was not significantly different ( F=0.741, P=0.562), but the expression of TLR4 in renal tubules[MCD: (82.94±4.62)%, MN: (63.54±1.98)%, MsPGN(42.32±2.97)%, FSGS: (22.60±2.07)%] was significantly increased ( F=1 929.842, P<0.01), Especially, the expression of TLR4 in renal tubules of MCD type INS was significantly higher than that of MN, MsPG N and FSGS [MCD: (82.94±4.62)%, MN: (63.54±1.98)%, MsPGN: (42.32±2.97)%, FSGS: (22.60±2.07)%], and the differences were statistically significant(all P<0.01). TLR4 expression in renal tubules was the highest in steroid-sensitive nephrotic syndrome (SSNS) type and the lowest in INS patients with steroid-resistant nephrotic syndrome (SRNS) type, and the differences were statistically significant( F=220.951, P<0.01). (2)The expression of serum TLR4 in INS children at the active stage [MsPNG: (143.36±12.99) ng/L, FSGS(75.94±7.29) ng/L, MN(210.22±14.66) ng/L, MCD(283.93±21.58) ng/L]was significantly higher than that in INS children at remission stage [MsPNG: (29.51±4.93) ng/L, FSGS(15.66±3.78) ng/L, MN(45.40±5.73) ng/L, MCD(62.29±7.90) ng/L]and control group 2[(0.69 ± 0.33) ng/L], and the differences were statistically significant(all P<0.01); the expression of serum TLR4 in INS children at remission stage was significantly higher than that in the control group 2 ( F=286.287, P<0.01). TLR4 had the highest expression level in serum of MCD type INS children at active and remission stages, followed by MN and FSGS successively.The expression of serum TLR4 was highest in SSNS and lowest in SRNS, and the differences were statistically significant ( F=147.438, P<0.01). (3)The expression of TLR4 in renal tubules of children with INS[(62.82 ±20.94)%]was positively correlated with the expression of TLR4 in serum[(213.26±73.33) ng/L] ( r=0.852, P< 0.05). The expression levels of TLR4 in renal tubules and serum of INS patients at active stage were positively correlated with 24-hour urinary protein level[(123.05±33.55) mg/kg] ( r=0.401, 0.427, all P<0.05), and negatively correlated with serum albumin level[(19.54±3.55)g/L] ( r=-0.602, -0.617, all P<0.05). Conclusions:The expression of TLR4 in renal tubules and serum of children with INS increases, and may be related to different renal pathological types and clinical types of children with INS, as well as disease activity.

Objective:To observe the efficacy and adverse reactions of adrenocorticotropic hormone (ACTH) in the treatment of recurrent frequently relapsing nephrotic syndrome (FRNS), and explore the feasibility of treatment of ACTH in children.Methods:From November 2017 to June 2018, in the First Affiliated Hospital of Xinxiang Medical University of a total of 32 cases of FRNS ACTH therapy were all the role of ACTH consecutive 3-8 courses of treatment (when the dosage of prednisone was less than or equal to 0.5 mg/kg, 0.4 U/kg ACTH should be used every day.After 3 days of continuous application, the dosage of Prednisone should be reduced to 1.25-5.00 mg.ACTH was used for 3 days as a course of treatment, and continued to use ACTH for 2 courses until corticosteroid stopped). The number of recurrence, Prednisone maintenance dose, immunosuppressive use, serum cortisol and other relevant experimental indicators and adverse reactions were recorded during the follow-up period after ACTH treatment, and were followed up for 8-15 months.Results:Among the 32 children, the onset age (53.47±25.81) months, the course of disease (35.25±23.87) months, 22 patients (68.75%) had no recurrence after corticosteroid withdrawal, 7 patients (21.87%) had recurrence after corticosteroid withdrawal, and 3 patients (9.37%) had recurrence during corticosteroid withdra-wal.Compared with before ACTH treatment, Prednisone was significantly decreased[(0.08±0.14) mg/(kg·d) vs. (0.23±0.23) mg/(kg·d)], and the difference was statistically significant ( t=3.661, P<0.05), the number of immunosuppressant cases decreased significantly[42.38%(12/32 cases) vs. 58.62%(17/32 cases), χ2= 14.500, P<0.05]. Serum cortisol was measured at 8 Am increased significantly[(11.78±4.64) μg/dL vs. (4.42±3.13) μg/dL, t=7.340, P<0.05]. The results were stable during follow-up, with 2 patients presenting with systemic urticaria once and 1 patient presenting with headache after infusion. Conclusions:ACTH therapy is safe and effective in hormone therapy for child with FRNS, and less adverse reactions.

A case of primary amoebic meningoencephalitis (PAM) treated in the First Affiliated Hospital of Xinxiang Medical University in March 6, 2022 was reported.The proband was a 14-year-old boy, who was admitted to the hospital because of " fever, headache and vomiting for 2 days" . Metagenomic next-generation sequencing (mNGS) was consequently conducted to examine the pathogens in cerebrospinal fluid.Naegleria infection was detected, so the child was diagnosed with PAM.The disease developed rapidly, and the patient died 29 hours after admission.In the paper, a total of 13 studies were reviewed, and 15 children with PAM were reported.Of the reported cases, only 1 case survived, 14 cases died.PAM had a low incidence, a dangerous condition, and high mortality.Most cases were diagnosed by autopsy or pathogen diagnosis in cerebrospinal fluid.This case is confirmed by mNGS of pathogens, and it is rarely reported at home and abroad.