Cornelia de Lange syndrome with recurrent seizures and SMC1A gene c. 2923C > T mutation: a case report and literature review / 中华实用儿科临床杂志

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.

Expression and significance of Toll-like receptor 4 in renal tissue and peripheral blood of children with idiopathic nephrotic syndrome / 中华实用儿科临床杂志

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.

Expressions and significance of Toll-like receptor 3 and Toll-like receptor 4 in renal tissues and peripheral blood mononuclear cells in childhood primary IgA nephropathy / 中华实用儿科临床杂志

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.

Correlation between the level of serum anterior gradient 2 and clinical pathological characteristics of nasopharyngeal carcinoma patients / 国际肿瘤学杂志

Objective To determine the levels of serum anterior gradient 2 (AGR2) before and after treatment in nasopharyngeal carcinoma (NPC) patients, and investigate the relationship of AGR2 and clinical pathological characteristics of NPC patients.Methods The serum levels of AGR2 were detected by enzyme linked immunosorbent assay (ELISA) in 55 NPC patients (NPC group) before and after treatment, 30 patients with nasopharyngeal inflammation (inflammation group) and 20 healthy controls (health control group).The correlations between serum AGR2 before and after treatment and clinical pathological characteristics of NPC were analyzed.The NPC patients received radiotherapy and were followed up for 6 months, and the therapeutic effect was evaluated.Results The serum AGR2 levels in NPC group before treatment, inflammation group and health control group were (22.92±5.24)μg/L, (9.50±4.15)μg/L and (8.75±2.18)μg/L respectively, and the difference was statistically significant (F=268.400, P=0.000).The level of serum AGR2 in NPC group was obviously higher than that in inflammation group (t=14.241, P=0.000) and health control group (t=15.254, P=0.000).The level of serum AGR2 in NPC group after treatment was significantly lower than that before treatment [(15.15±10.33)μg/L vs.(22.92±5.24)μg/L, t=12.774, P=0.000].In NPC patients, serum AGR2 levels of clinical Ⅲ-Ⅳ stage group before and after treatment were higher than those of clinical Ⅰ-Ⅱ stage group (t=5.938, P=0.000;t=0.759, P=0.032).Serum AGR2 levels of lymph node metastasis group before and after treatment were higher than those of no lymph node metastasis group (t=6.879, P=0.000;t=2.700, P=0.009).Serum AGR2 levels of carotid sheath and skull base involvement groups before treatment were higher than those of non-involvement groups (t=8.342, P=0.000;t=8.255, P=0.009).Serum AGR2 levels of cranial nerve involvement group before and after treatment were higher than those of non-involvement group (t=7.743, P=0.000;t=3.021, P=0.004).The serum AGR2 level after treatment in complete response patients [(13.86±2.93)μg/L] was significantly lower than that in partial response patients [(15.85±3.24)μg/L, t=2.267, P=0.028] and invalid patients [(20.65±6.59)μg/L, t=4.935, P=0.000].The serum AGR2 level in partial response patients was significantly lower than that in invalid patients (t=3.196, P=0.004).Conclusion The level of serum AGR2 in NPC patients increases obviously.AGR2 plays an important role in the genesis and development of NPC, and can be used as a new marker of NPC for judging the clinical therapeutic efficacy and prognosis.

Effects of exogenous hydrogen sulfide on the expressions of angiotensinⅡand proliferating cell nuclear an-tigen of tubulointerstitial fibrosis in rats with unilateral ureteral obstruction / 医学研究生学报

Objective Tubulointerstitial fibrosis(TIF) is the most important marker reflecting the degree of renal function decline and prognosis and hydrogen sulfide ( H2 S) is crucial in maintaining normal renal function and many diseases of renal injury. The aim of the article was to investigate the effects of exogenous H2 S on the expressions of angiotensinⅡ ( AngⅡ) , proliferating cell nuclear antigen (PCNA) and transforming growth factor beta-1 (TGF-β1) in rats with unilateral ureteral obstruction (UUO). Methods TIF rat model was built with UUO. Ninety-six SD rats were randomly divided into four groups:sham operation group, modelgroup, UUO+low-dose NaHS treatment group ( low dose group) and UUO+high-dose NaHS treatment group ( high dose group) ( n=24, respectively) . Rats in model group were treated with left-side ureteral obstruction and ureteral separation without obstruction was done in sham operation group. UUO rats in two treatment groups were injected intraperitoneally with two different doses of sodium hydrosulfide (NaHS, donor of endogenous H2 S), respectively. HE and Massonstaining and immunohistochemical staining were performed at the 7 d, 14 d and 21 d, respectively. Results In sham operation group, the expressions of AngⅡ, PCNA, and TGF-β1 were found in microamount in tubulointerstitium at each time points. Compared with sham operation group, the expressions of AngⅡ, PCNA and TGF-β1 in model group increased( P<0.01) . While in comparison to model group, the expressions of AngⅡ, PCNA and TGF-β1 decreased in low dose group and high dose group, but no significant differ-ence was found between low dose group and high dose group. Conclusion Exogenous H2 S supplementation can attenuate TIF partly via downregulating the expressions of AngⅡ, PCNA and TGF-β1 .

Expressions and significance of Toll-like receptor 3 and Toll-like receptor 4 in renal tissues and peripheral blood mononuclear cells in childhood primary IgA nephropathy / 中华实用儿科临床杂志

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.

The expression and clinical significance of toll-like receptor (TLR) 4 and TLR7 on renal tissue in children with pri-mary nephrotic syndrome / 临床儿科杂志

Objective To study the expression and clinical significance of toll-like receptor (TLR) 4 and TLR7 in primary nephrotic syndrome (PNS) of different pathological types in children. Methods Renal expressions of TLR4 and TLR7 were amined and analyzed retrospectively in renal biopsy specimens from 110 PNS patients and 21 healthy controls by immunohisto-chemical method. According to the renal pathologic classification of PNS, the TLR4 and TLR7 expression levels in PNS of dif-ferent types were compared. Results Compared with the renal tissue of healthy controls, the expression level of TLR4 on renal tissue of PNS patients was significantly increased (P<0.01). Among MN, MsPGN and FSGS, the highest expression of TLR4 was observed in MCD (P<0.01). Compared with the renal tissue of healthy controls, the expression level of TLR7 in re-nal tissue of PNS patients was also significantly increased (P<0.01). Among MCD, MN and FSGS, the highest expression of TLR7 was observed in MsPGN (P<0.01). Conclusions TLR4 and TLR7 expression levels are increased in renal tissue of PNS patients and the expression levels may be correlated with renal pathological types.

Effects of exogenous hydrogen sulphide on renal tubulointerstitial ifbrosis induced by unilateral ureteral obstruction in rats / 临床儿科杂志

Objectives To observe the expressions ofα-smooth muscle actin (a-SMA) and type III collagen (Col-III) of tubuloin-terstitial ifbrosis(TIF) induced by unilateral ureteral obstruction (UUO) in rat and the intervention effect of supplemental hydrogen sul-ifde (H2S). Methods Ninety-six male Sprague-Dawley rats were randomly divided into 4 groups, sham-operated group, UUO model group, NaHS low-dose group and high-dose group. TIF rat model was established via UUO. After UUO operation, low-dose and high-dose group were intraperitoneally injected twice a day with 1.4μmol/kg and 7.0μmol/kg NaHS, respectively. Sham-operated group and UUO model group were given an equivalent volume of normal saline. Eight rats in each group were killed randomly at 7, 14 and 21 days after UUO operation. The concentration of plasma H2S was detected using deproteinization. Renal tubulointerstitial damage was evaluated with routine Hematoxylin and Eosin staining and Masson staining under microscope. The expressions ofα-SMA, Col-III were measured with immunohistochemistry. Results Compared with sham-operated group, renal tubulointerstitial injury was severer in UUO model group and was alleviated after intervention of NaHS. There was signiifcant difference in tubulointerstitial injury among all groups (P0.05). Conclusions TIF induced by UUO is associated with decreased level of endogenous H2S. H2S supplementation can ameliorate the development of UUO-associated TIF in part through down-regulating the expressions ofα-SMA and Col-III in renal tissues. However, a dose dependent manner between the two doses of exogenous H2S supplementation was not observed.

Mobilization of autologous bone marrow stem cells is involved in cell apoptosis and proliferation following renal ischemia-reperfusion injuries / 中国组织工程研究

BACKGROUND:Bone marrow stem cells are defined by their multi-potential ability, and can be differentiated into intrinsic cells in the kidney. OBJECTIVE:To study the effects of mobilizing autologous bone marrow stem cells by granulocyte colony-stimulating factor plus stem cellfactor on cellapoptosis and proliferation of rats with renal ischemia-reperfusion injury. METHODS:Total y 160 male Sprague-Dawley rats were randomly divided into four groups:control group, model group, cytokine treatment group, cytokine control group. Rat models of unilateral renal ischemia-reperfusion injury were established in the model and cytokine treatment groups. Rats in the cytokine treatment group and cytokine control group received subcutaneous injection of granulocyte colony-stimulating factor (50μg/kg) and stem cellfactor (200μg/kg), once a day, for 5 continuous days. Rats in the model and control groups had no treatment. Apoptotic cells were detected by terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling method, and the expression of CD34-positive cells, Caspase-3, Bcl-2, proliferating cellnuclear antigen in the kidney were measured using immunohistochemistry staining. RESULTS AND CONCLUSION:The number of CD34-positive cells in renal tissue of the cytokine treatment group was significantly higher than that of the control group and model group (P<0.05). The apoptotic index and expression of Capase-3 in the model group and cytokine treatment group were higher than those in the control group and cytokine control group (P<0.05). The apoptotic index and expression of Capase-3 in the cytokine treatment group were lower than that in the model group (P<0.05). The expression of Bcl-2 in the model group and cytokine treatment group was higher than that in the control group and cytokine control group (P<0.05). The expression of Bcl-2 in the cytokine treatment group was higher than that in the model group (P<0.05);however, as time went on, Bcl-2 expression was obviously decreased. Proliferating cellnuclear antigen expressed both in the model group and in the cytokine treatment group. Additional y, the proliferative index reached peak at 24 days in the model group, and then decreased gradual y;while in the cytokine treatment group, it reached the peak at 10 days, maintained a high level until the 17th day, and then decreased gradual y. Mobilization of autologous bone marrow stem cells by combination of granulocyte colony-stimulating factor and stem cellfactor can increase proliferation and decrease apoptosis of renal tubular epithelial cells after renal ischemia-reperfusion injury, and thus, promote the recovery from renal tubular injury.

Significance of heparanase, bFGF and VEGF in angiogenesis for nasopharyngeal angiofibroma outspreading / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To observe the expression of HPA, bFGF and VEGF in nasopharyngeal angiofibroma, and then explore its significance of inducing angiogenesis in the tumor's expansibility growth.@*METHOD@#The expression of heparanase, bFGF, VEGF and CD105 were examined in 30 (I - II period 9 cases, III - IV period 21 cases) samples from nasopharyngeal angiofibroma and 20 inferior turbinate tissues by immunohistochemical staining technique. The microvascular density (MVD) were measured by the immunohistostaining of CD105. The MVD was analyzed with the clinical stage.@*RESULT@#The positive rates of the HPA, bFGF and VEGF expression in JNA tissues were significantly higher than that in inferior turbinate group (P < 0.05). The positive rates of HPA, bFGF and VEGF expression in III - IV period were obviously higher than that in I - II period (P < 0.05). The expression of bFGF and VEGF in JNA tissues was respectively positive correlated with the HPA (r = by 0.499, 0.582, P < 0.05); In JNA tissues, the mean MVD in both HPA and bFGF positive group was higher than each one single positive group or both negative express group (P < 0.05). And the mean MVD in both HPA and VEGF positive group was higher than each one single positive group or both negative express group (P < 0.05).@*CONCLUSION@#HPA can induce angiogenesis to promote tumor growth by releasing bFGF and VEGF. Targeting the HPA can be a new direction in JNA adjuvant treatment.

Endoscopic thyroidectomy via suprasternal approach / 中国耳鼻咽喉头颈外科

OBJECTIVE To summarize the clinical experience of endoscopic thyroidectomy via suprasternal approach. METHODS Endoscopic thyroidectomy via suprasternal approach was performed in 35 patients with ultrasonic scalpel. RESULTS Operations were successfully performed in 35 patients. The mean operation times were 130 (105～190) minutes in 24 cases with subtotal lobectomy and 4 case with total lobectomy, 60 (50～70) minutes in 2 cases with isthmectomy, 228 (185～270) minutes in 2 case with bilateral subtotal lobectomy, 163 (140～215) minutes in 3 case with subtotal lobectomy and the contralateral ademona resection .The bleeding during operation was 5 to 40ml and the average hospital stay time was 4 (3～5) days. CONCLUSION Endoscopic thyroidectomy via suprasternal approach is a safe way with good cosmetic value.

Communicating Skills between Doctors and Children with Nephrotic Syndrome / 中国医学伦理学

Nephrotic syndrome,a common glomerular disease in pediatric department,is characterized by its long course of disease and facility to repeat or relapse,thus severely influences the physical and mental health of pediatric patients.Besides physical pains,most family members and patients show different degrees of mental stress towards this specific disease.Based on investigating clinical cases,we explored the features of mental stress among children with nephritic syndrome and their family members,and came up with corresponding psychological interference by effective communication skills between doctors and children with nephritic syndrome,offering humane concern,and proper instruction in clinical treatment in order to increase the compliance of children patients and their family members to medical treatment.Therefore,children patients and their family members manifest favorable attitude and cooperate with medical staff in the treating process,thus a satisfactory treating outcome will be achieved.