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Introduction: The aim of this study was to assess the differences between childhood-onset and adult-onset systemic lupus erythematosus (cSLE and aSLE) for clinical manifestations and mortality using a meta-analytic approach. Methods: The PubMed, EMBASE, and the Cochrane library were searched for eligible studies published between January 1982 and March 2021. The odds ratio (OR) with 95% confidence interval was used to calculate the pooled effect estimates using the random-effects model. Results: Thirty-four studies involving 21,946 SLE patients were included. cSLE was associated with an increased risk of malar rash (OR: 1.64; p < 0.001), ulcers/mucocutaneous involvement (OR: 1.22; p = 0.039), general neurological involvement (OR: 1.52; p < 0.001), seizures (OR: 1.92; p < 0.001), general renal involvement (OR: 2.08; p < 0.001), proteinuria (OR: 1.35; p = 0.015), urinary cellular casts (OR: 1.67; p = 0.047), fever (OR: 2.31; p < 0.001), anemia (OR: 1.91; p < 0.001), thrombocytopenia (OR: 1.41; p < 0.001), leucopenia (OR: 1.57; p = 0.017), lymphadenopathy (OR: 2.40; p < 0.001), and cutaneous vasculitis (OR: 1.72; p = 0.001) as compared with aSLE. Moreover, cSLE versus aSLE was associated with a reduced risk of articular manifestations (OR: 0.63; p = 0.001), pulmonary involvement (OR: 0.54; p = 0.001), and pleuritis (OR: 0.61; p < 0.001). There were no significant differences between cSLE and aSLE for mortality risk (OR: 1.20; p = 0.203). Conclusion: We found that certain clinical manifestations of SLE are different in cSLE and aSLE. Moreover, the mortality risk of cSLE and aSLE was not significantly different.

The purpose of this study is to understand children’s clinical characteristics with pertussis and analyze risk factors on critical pertussis patients. Demographic data from patients with pertussis at Children’s Hospital affiliated to the Capital Institute of Pediatrics between March 2011 and December 2018 were collected. We retrospectively gathered more information with the positive exposure, vaccination, antibiotic usage before diagnosis, clinical manifestation, laboratory tests, therapy, and complications for hospitalized children. We divided the patients into severe and non-severe groups, comparing related factors and clinical characteristics among each group. In particular, we summarize the clinical features of the severe patients before aggravation. A total of 967 pertussis cases were diagnosed, of which 227 were hospitalized. The onset age younger than 3 months old accounted for the highest proportion, and 126 patients received hospitalization. For those patients, the incidence of post-tussive vomiting, paroxysmal cyanosis, post-tussive heart rate decrease, hypoxemia, severe pneumonia, and mechanical ventilation was significantly higher than that in the ≥ 3-month-old group (p

Background Langerhans cell histiocytosis (LCH) is a rare neoplastic disease that occurs in both children and adults, and BRAF V600E is detected in up to 64% of the patients. Several studies have discussed the associations between BRAF V600E mutation and clinicopathological manifestations, but no clear conclusions have been drawn regarding the clinical significance of the mutation in pediatric patients. Results We retrieved the clinical information for 148 pediatric LCH patients and investigated the BRAF V600E mutation using next-generation sequencing alone or with droplet digital PCR. The overall positive rate of BRAF V600E was 60/148 (41%). The type of sample (peripheral blood and formalin-fixed paraffin-embedded tissue) used for testing was significantly associated with the BRAF V600E mutation status (p-value = 0.000 and 0.000). The risk of recurrence declined in patients who received targeted therapy (p-value = 0.006; hazard ratio 0.164, 95%CI: 0.046 to 0.583). However, no correlation was found between the BRAF V600E status and gender, age, stage, specific organ affected, TP53 mutation status, masses close to the lesion or recurrence. Conclusions This is the largest pediatric LCH study conducted with a Chinese population to date. BRAF V600E in LCH may occur less in East Asian populations than in other ethnic groups, regardless of age. Biopsy tissue is a more sensitive sample for BRAF mutation screening because not all of circulating DNA is tumoral. Approaches with low limit of detection or high sensitivity are recommended for mutation screening to avoid type I and II errors.

Background: Neuronal ceroid lipofuscinoses (NCLs) are rare lysosomal storage disorders, characterized by progressive mental retardation and motor developmental regression, and myoclonic seizures. Hematopoietic stem cell transplantation (HSCT) has been suggested to be used in the treatment of lysosomal disorders and brain damage caused by a deficiency of soluble lysosomal enzymes. However, there are no reports on treating NCLs with HSCT in China.Results: From January 2018 to May 2019, we performed haplo-HSCT followed by PT/Cy on 8 NCL pediatric patients. The median age was 4.5 years (range from 2.8 to 7 years). And the donors were their haploidentical HLA-matched parents, as no identically matched donor was found. The median nucleated cell count was 25.37 (10–34.41) ×108/kg and the median CD34+ count was 13.7(8.95–22)×106/kg. Neutrophil reconstitution occurred at 12 days (11–14 days) after transplantation, and median platelet reconstitution time was 12 days (9–14 days) after transplantation. All patients achieved full donor chimerism and did not develop Grade II–IV acute GvHD or chronic GvHD after transplantation. The median follow-up period was 2.2 (1.5–2.6) years. All patients are still alive at present, and develop no severe transplantation-related complications. The mental and motor disorders, myoclonic seizures, and vision loss of all patients continue to progress, but the progression slows down at 12 months after the transplantation. Conclusion: Observations reported in this study suggest it is safe and efficacy to treat NCLs with haplo-HSCT. Transplantation should be performed as early as possible for the survival quality of pediatric patients.

Background: DNA ligase IV (LIG4) deficiency is a rare autosomal recessive disorder caused by mutations in the DNA LIG4 gene. Nowadays hematopoietic stem cell transplantation(HSCT) is the most effective treatment option. Matched sibling or unrelated donor was the best choice for those patients. However, it will be a problem for LIG4 deficiency patients without proper donor as above but needed urgent transplantation because of infection or bone marrow failure. Furthermore, mixed donor chimerism after transplantation is more common in LIG4 deficiency patients because of reduced intensity conditioning(RIC) regimen. How to deal with those problems? Here we report a case which the patient received haploidentical HSCT and got complete donor chimerism after donor stem cell infusion. Results:The patient was diagnosed as LIG4 deficiency at 8-month-old. At 14 months of age, she received a T cell receptor(TCR)α/β and CD19+ B cells depleted graft from his haploidentical father, followed a RIC regimen with no additional graft versus host disease(GvHD) prophylaxis. Engraftment was as usual. However, mixed donor chimerism occurred after transplantation and viremia persisted. Cryopreserved donor cell infusion was initiated. The chimerism grew up steadily and viremia disappeared at four months post transplantation. Conclusions: This case report gives an example of successful haploidentical transplantation and donor stem cell infusion as a treatment option in a mixed donor chimerism situation after HSCT in LIG4 deficiency patients.

To control the ongoing COVID-19 pandemic, CoronaVac (Sinovac), an inactivated vaccine, has been granted emergency use authorization by many countries. However, the underlying mechanisms of the inactivated COVID-19 vaccine-induced immune response remain unclear, and little is known about its features compared to SARS-CoV-2 infection. Here, we implemented single-cell RNA sequencing (scRNA-seq) to profile longitudinally collected PBMCs (peripheral blood mononuclear cells) in six individuals immunized with CoronaVac and compared these to the profiles of COVID-19 infected patients from a Single Cell Consortium. Both inactivated vaccines and SARS-CoV-2 infection drove changes in immune cell type proportions, caused B cell activation and differentiation, and induced the expression of genes associated with antibody production in the plasma. The inactivated vaccine and SARS-COV-2 infection also caused alterations in peripheral immune activity such as interferon response, inflammatory cytokine expression, innate immune cell apoptosis and migration, effector T cell exhaustion and cytotoxicity, however, the magnitude of change was greater in COVID-19 patients, especially those with severe disease, than in immunized individuals. Further analyses revealed a distinct peripheral immune cell phenotype associated with CoronaVac immunization (HLA class II upregulation and IL21R upregulation in naïve B cells) versus SARS-CoV-2 infection (HLA class II downregulation and IL21R downregulation in naïve B cells severe disease). There were also differences in the expression of important genes associated with proinflammatory cytokines and thrombosis. In conclusion, this study provides a single-cell atlas of the systemic immune response to CoronaVac immunization and reveals distinct immune responses between inactivated vaccines and SARS-CoV-2 infection.

Objective We determined the yield, genetic spectrum, and actual origin of de novo mutations (DNMs) for infantile spasms (ISs) in a Chinese cohort. The efficacy of levetiracetam (LEV) for STXBP1‐related ISs was explored also. Methods Targeted sequencing of 153 epilepsy‐related candidate genes was applied to 289 Chinese patients with undiagnosed ISs. Trio‐based amplicon deep sequencing was used for all DNMs to distinguish somatic/mosaic mutations from germline ones. Results Total of 26 DNMs were identified from 289 recruited Chinese patients with undiagnosed ISs. Among them, 24 DNMs were interpreted as pathogenic mutations based on American College of Medical Genetics and Genomics guidelines, contributing to 8.3% (24/289) of diagnosis yield in the Chinese IS cohort. CDKL5 and STXBP1 are the top genes with recurrent DNMs, accounting for 3.1% (9/289) of yield. Further deep resequencing for the trio members showed that 22.7% (5/22) of DNMs are actually somatic in the proband or a parent. These somatic carriers presented milder seizure attacks than those with true germline DNMs. After treatment with LEV for half a year, three patients with DNM in STXBP1 showed improved clinical symptoms, including seizure‐free and normal electroencephalogram, except for a patient with a second DNM in DIAPH3. Significance Our study confirmed the contribution and genetic spectrum of DNMs in Chinese IS patients. Somatic mutation account for a quarter of DNMs in IS cases. Treatment with LEV improved the prognosis of STXBP1‐related ISs., The contribution and genetic spectrum of de novo mutations (DNMs) was confirmed in infantile spasms (ISs). Somatic mutation accounted for 22.7% of DNMs in IS patients. Treatment with levetiracetam improved the prognosis of STXBP1‐related ISs.

Background Neurodevelopmental disorders (NDDs) are a group of disorders with high genetic and phenotypic heterogeneities. The 16p11.2 microdeletion has been implicated as an important genetic risk factor for NDDs. Methods Multiple genetic tests were used to detect the 16p11.2 microdeletion from 918 Chinese children with NDDs. Targeted sequencing of genes in the 16p11.2 interval was performed in all carriers of the 16p11.2 microdeletion, and whole‐genome expression profiling analysis was performed for the patient carriers and normal carriers in their intra‐family. Results Three patients carrying the 16p11.2 microdeletion were screened out, indicating a frequency of 0.33% for the 16p11.2 microdeletion in this cohort. We reviewed the neurodevelopmental trajectories of the 16p11.2 microdeletion carriers from childhood to puberty and confirmed that this microdeletion was associated with abnormal neurodevelopment, with varied neurodevelopmental phenotypes. A differential PRRT2 genotype (rs10204, T>C) was identified between patients and normal carriers of the 16p11.2 microdeletion. Moreover, the determination of differential whole‐genome expression profiling demonstrated the destruction of the top‐ranked network in neurogenesis and accounted for observation of abnormal neurodevelopmental phenotypes in the 16p11.2 microdeletion carriers. Conclusions We have provided the frequency of the 16p11.2 microdeletion in a Chinese pediatric NDD cohort with a variable NDD phenotype from childhood to puberty, which is useful for Chinese geneticists/pediatricians to conduct the 16p11.2 microdeletion testing in children with NDDs., We screened out three patients carrying 16p11.2 microdeletion from a Chinese pediatric NDD cohort, producing a frequency of 0.33% for 16p11.2 microdeletion, which is useful for Chinese geneticists/pediatricians before conducting the 16p11.2 microdeletion testing in children with NDDs. We reviewed the neurodevelopmental trajectories of these child carriers of 16p11.2 microdeletion from childhood to puberty and confirmed that this microdeletion was associated with abnormal neurodevelopmental outcomes, but with varied neurodevelopmental phenotypes. Furthermore, the determination of differential whole‐genome expression profiling between a patient carrier and their intra‐family normal carrier of 16p11.2 microdeletion demonstrated destruction of the top‐ranked network for nervous system development, thus accounting for the observed abnormal neurodevelopmental phenotypes in 16p11.2 microdeletion carriers.

Purpose To examine the overall genomic copy-number variant (CNV) landscape of Chinese pediatric patients with developmental disorders. Methods De-identified chromosomal microarray (CMA) data from 10,026 pediatric patients with developmental disorders were collected for re-evaluating the pathogenic CNV (pCNV) yields of different medical conditions and for comparing the frequency and phenotypic variability of genomic disorders between the Chinese and Western patient populations. Results The overall yield of pCNVs in the Chinese pediatric patient cohort was 21.37%, with variable yields for different disorders. Yields of pCNVs were positively associated with phenotypic complexity and intellectual disability/developmental delay (ID/DD) comorbidity for most disorders. The genomic burden and pCNV yield in neurodevelopmental disorders supported a female protective effect. However, the stratification analysis revealed that it was seen only in nonsyndromic ID/DD, not in nonsyndromic autism spectrum disorders or seizure. Furthermore, 15 known genomic disorders showed significantly different frequencies in Chinese and Western patient cohorts, and profiles of referred clinical features for 15 known genomic disorders were also significantly different in the two cohorts. Conclusion We defined the pCNV yields and profiles of the Chinese pediatric patients with different medical conditions and uncovered differences in the frequency and phenotypic diversity of genomic disorders between Chinese and Western patients.

Background Neural tube defects (NTDs) are severe congenital malformations. Diabetes during pregnancy is a risk factor for NTDs, but its mechanism remains elusive. Emerging evidence suggests that protein malonylation is involved in diabetes. Here, we report the correlation between histone lysine malonylation in diabetes‐induced NTDs. Methods Nano‐HPLC/MS/MS was used to screen the histone malonylation profile in human embryonic brain tissue. Then, the histone malonylation level was compared between the brains of normal control mice and mice with diabetes‐induced NTDs. Finally, the histone malonylation level was compared under high glucose exposure in an E9 neuroepithelial cell line (NE4C). Results A total of 30 histone malonylation sites were identified in human embryonic brain tissue, including 18 novel sites. Furthermore, we found an increased histone malonylation level in brain tissues from mice with diabetes‐induced NTDs. Finally, both the histone malonylation modified sites and the modified levels were proved to be increased in the NE4C treated with high glucose. Conclusion Our results present a comprehensive map of histone malonylation in the human fetal brain. Furthermore, we provide experimental evidence supporting a relationship between histone malonylation and NTDs caused by high glucose‐induced diabetes. These findings offer new insights into the pathological role of histone modifications in human NTDs., In this manuscript, we reported, for the first time, the presence of histone malonylation in human fetal brain and mouse neural stem cells. The results reveal that histone malonylation aberrant in diabetes‐induced NTDs. These results may bring a new insight in the pathological role of histone modifications in human NTDs.

Background: We compared the safety and feasibility of single-incision laparoscopic surgery (SILS) and conventional laparoscopic-assisted anorectoplasty (CLAARP). Materials and Methods: We ...

Background Diamond-Blackfan anemia (DBA), a congenital pure red cell aplasia (PRCA), is characterized by normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. DBA10, a subset of DBA, is an autosomal dominant disease caused by a mutation in RPS26. So far, there are 30 disease-causing variants in RPS26 being reported, however, only three of them are small insert mutations. Case presentation Here we report a three-month Chinese boy who presents with anemia from postnatal day 2. He was suspected to have Diamond-Blackfan anemia, according to the clinical result. Thus, whole-exome sequencing was performed for precise diagnosis. Conclusion Here, a novel insert mutation c.96dupG in RPS26 was identified by whole-exome sequencing, which caused neonatal DBA in a Chinese boy. This is the first case report of a Chinese DBA10 patient who carries a small insertion in the RPS26 gene. These findings expand the mutation diversity of RPS26 and demonstrate the clinical presentations of the Chinese DBA10 patient. Electronic supplementary material The online version of this article (10.1186/s12881-019-0848-1) contains supplementary material, which is available to authorized users.

Vancomycin is a glycopeptide antibiotic widely used against Gram-positive bacteria such as methicillin-resistant Staphylococcus aureus and coagulase-negative Staphylococcus. Several studies have found that in adults, continuous infusions of vancomycin showed earlier attainment of desired target drug concentrations and reduced nephrotoxicity relative to intermittent infusion. In the pediatric population, there is no consensus on the best vancomycin infusion method. The present study developed and validated a simple and cost-effective UPLC method to determine serum vancomycin levels in pediatric patients and applied it to the therapeutic drug monitoring of vancomycin in children who were treated with either continuous infusion or intermittent infusion of vancomycin. The sample preparation procedure involves only protein precipitation and filtration, and the UPLC method takes 5 min/sample. The assay was linear from 5 mg/L to 100 mg/L (R2 = 0.999). The precision and accuracy were determined at 4 concentration levels. The intraday variability (%CV) ranged from 1.23% to 6.01% (n = 6), and the interday variability ranged from 3.02% to 9.75% (n = 18). The accuracies were good and ranged from 91.21% to 112.63%. Serum vancomycin was stable at room temperature for 12 h or for 3 freeze/thaw cycles, and the processed sample was stable in an autosampler within 15.5 h.

We assessed the relationship between serum 25-hydroxyvitamin D (25(OH)D) level and community-acquired pneumonia (CAP) among Chinese children. This observational study examined children aged 3 days to 14 years (n = 1582) from the Capital Institute of Pediatrics in 2009 to 2011. There were 797 children in the CAP group and 785 controls. The CAP group was divided into 2 groups: a pneumonia group and pneumonia-induced sepsis group. The serum 25(OH)D level was estimated using micro whole blood chemiluminescence. The average serum 25(OH)D level in all samples was 25.32 ± 14.07 ng/mL, with the CAP group showing a lower value than the control group (P

The mechanisms underpinning Kawasaki disease (KD) are incompletely understood. There is an unmet need for specific biomarkers for the early diagnosis of KD.Eighty-five KD patients suffering from acute-phase and subacute-phase KD, 40 healthy children, and 40 febrile children comprised the study cohort. An enzyme-linked immunosorbent assay was used to measure plasma levels of C1q, C1q-circulating immune complex (C1q-CIC), mannan-binding lectin-associated serine protease (MASP)-1, factor B, C4d, C3d, C5a, C5b-9 and CD59.Plasma concentrations of factor B and C5a in the acute phase were lower than those in healthy and febrile control groups (all P0.05). Compared with acute-phase KD patients, plasma concentrations of C1q, factor B, and C3d in KD patients were increased significantly (P0.05), but those of C4d, MASP-1 and CD59 decreased significantly (P0.05), in patients with sub-acute KD.These data suggest that more than one pathway in the complement system is activated in KD. Importantly, decreased plasma concentrations of factor B and C5a in the acute phase (6-10 d) could be employed as biomarkers for the early diagnosis of KD.

Objective To investigate the predictive value of thrombospondin-2 (TSP-2) in assessing the response to intravenous immunoglobulin (IVIG) in children with acute Kawasaki disease (KD). Methods This was a cohort study with controls. 71 children with KD were recruited as the case group, including IVIG non-responder (n=17) and IVIG responder (n=54), and healthy children (n=27) and febrile children (n=30) were used as control groups. ELISA was used to measure plasma TSP-2 and TSP-1 levels. The rank-sum test was used to compare groups of non-normally distributed data. Predictive value was evaluated through the receiver operating characteristic (ROC) curve. Results Compared with the control groups, the plasma TSP-2 levels in acute KD were significantly elevated (TSP-2: 31.00 (24.02, 39.28) vs 21.93 (17.00, 24.73) vs 16.23 (14.00, 19.64) ng/mL, P

Vitamin D receptor (VDR) is a potential candidate gene for community-acquired pneumonia (CAP). Examining the susceptibility VDR gene for CAP is essential for early intervention, prevention of related complications, and improvement of outcome. A case-control study was performed to examine the association between rs2239185 of VDR gene and CAP among children in Chinese Han population. Polymerase chain reaction and direct sequencing were used to genotype rs2239185 in 91 CAP children and 94 healthy children. For rs2239185, individuals with TT genotype showed a significantly higher risk of CAP than those with CC plus CT genotypes (P = 0.008). The occurrence of T allele of rs2239185 was significantly more frequent in CAP children than those in normal controls (P = 0.045).We found through stratification analysis that CAP children with systemic inflammatory response syndrome (SIRS), leukocyte count (WBC) >10 × 109/L, C-reactive protein (CRP) >25 mg/L, procalcitonin (PCT) >2 ng/mL, and pediatric critical illness score

Aim Methylation abnormalities in T lymphocytes have been reported to correlate with systemic lupus erythematosus (SLE). Previous studies identified hypomethylation in the promoter of several genes linked to SLE. Long interspersed nucleotide element-1 (LINE-1) constitutes 17–25% of the human genome, and LINE-1 hypomethylation has been reported in SLE. Limited information is available regarding LINE-1 methylation in juvenile SLE (JSLE). Method Methylation levels of LINE-1 in peripheral blood mononuclear cells (PBMCs) from 59 JSLE and 47 control samples were examined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Total homocysteine (tHcy) concentrations in plasma were measured by immunoassay. Results Significant hypomethylation of LINE-1 was observed in PBMCs from JSLE patients (60.93% in cases compared with 62.88% in controls, P = 0.001). Significant LINE-1 hypomethylation was observed in active SLE compared to controls (60.66% vs. 62.88%, P = 0.001). According to other clinical parameters, a significant correlation was found between LINE-1 methylation levels and the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2000) of the cases (r = −0.285, P = 0.032). The risk of JSLE increased with decreasing levels of LINE-1 methylation, with an odds ratio of 14.5 (95% CI: 2.8–75.6, P = 0.002). Cases had significantly higher plasma concentrations of tHcy than controls (15.11 vs. 11.02 μmol/L, P = 0.028); the correlation between LINE-1 methylation levels and tHcy was significant (r = −0.4, P = 0.013). Correlations between methylation levels of LINE-1 and complement component 3 were significant (r = 0.317, P = 0.044; r = 0.387, P = 0.031, in total JSLE and active JSLE, respectively). Conclusion Hypomethylation of LINE-1 is associated with risk of JSLE, and LINE-1 methylation levels were related to disease activity and clinical manifestations. The correlation between tHcy levels and LINE-1 methylation was significant.

To study the effects of hydrogen sulfide (H2S) on the left ventricular expression of MMP-8, MMP-13, and TIMP-1 in a rat model of congenital heart disease.Male SD rats underwent abdominal aorta-inferior vena cava shunt operation. H2S donor NaHS (56 μmol·kg(-1)·d(-1), ip) was injected from the next day for 8 weeks. At 8 weeks, the hemodynamic parameters, including the left ventricular systolic pressure (LVSP), the left ventricular peak rate of contraction and relaxation (LV ± dp/dtmax) and the left ventricular end diastolic pressure (LVEDP) were measured. The left ventricular tissues were dissected out, and hydroxyproline and collagen I contents were detected with ELISA. The expression of MMP-8, MMP-13, and a tissue inhibitor of metalloproteinase-1 (TIMP-1) in the tissues was measured using real-time PCR, Western blotting, and immunohistochemistry, respectively.The shunt operation markedly reduced LVSP and LV ± dp/dtmax, increased LVEDP, hydroxyproline and collagen I contents, as well as the mRNA and protein levels of MMP-8, MMP-13, and TIMP-1 in the left ventricles. Chronic treatment of the shunt operation rats with NaHS effectively prevented the abnormalities in the hemodynamic parameters, hydroxyproline and collagen I contents, and the mRNA and protein levels of MMP-13 and TIMP-1 in the left ventricles. NaHS also prevented the increase of MMP-8 protein expression, but did not affect the increase of mRNA level of MMP-8 in the shunt operation rats.H2S suppresses protein and mRNA expression of MMP-8, MMP-13, and TIMP-1 in rats with cardiac volume overload, which may be contributed to the amelioration of ventricular structural remodeling and cardiac function.

Hastalar ve yontemler: Calisma Beijing Pediatri Capital Enstitusu'nde Subat 2009 Aralik 2009 tarihleri arasinda yapildi. Yetmis iki JIA hastasinda (33 erkek, 39 kiz; ort. yas 7.6±3.9 yil; dagilim 2-15.9 yil), 65 RA hastasinda (14 erkek, 51 kiz; ort. yas 47±14.3 yil; dagilim 17-75 yil) ve 22 saglikli cocuk hastada (10 erkek, 12 kiz; ort. yas 14.1±0.4 yil; dagilim 6.1 to 15.7 yil) serum anti-CCP antikor duzeyleri, enzim bagli immunosorbent testi (ELISA) ile olculdu. Elde edilen veriler, klinik veriler ile birlikte analiz edildi.

The aim of this study was to compare the midterm outcomes of 1-stage and 3-stage surgical procedures to treat anorectal malformations (ARMs) with rectoprostatic and rectobulbar fistula using laparoscopic-assisted anorectoplasty (LAARP).A total of 56 patients with ARMs and rectoprostatic and rectobulbar fistula who underwent LAARP from January 2011 to May 2014 in our institution were included in the study. They were divided into 2 groups according to the stage of procedure. The patients' data and postoperative complications were compared between the 2 groups. The Krickenbeck classification was used for assessing the bowel functions.About 20 ARM newborns (rectoprostatic fistula [12], rectobulbar fistula [8]) successfully underwent a 1-stage LAARP, and about 36 ARM children (rectoprostatic fistula [20], rectobulbar fistula [16]) underwent a 3-stage LAARP (colostomy, LAARP, and closure of colostomy). The average age at the LAARP procedure in 1-stage group was significantly lower than that in 3-stage group (39.8 ± 8.1 hours vs 4.9 ± 1.2 months; P = .00). The average operative time during the definitive procedure was 132.2 ± 15.9 minutes in the 1-stage group and 120.5 ± 12.7 minutes in the 3-stage group (P = .13). There was only 5 to 10 mL of blood loss during the LAARP procedure both the groups (P = .75). There were no significant differences between the 2 groups in postoperative hospital stay during the definitive procedure (10.2 ± 2.3 days vs 8.5 ± 2.2 days; P = .22). The rate of surgical site infection and dehiscence was 5% (1/20) in the 1-stage group and 5.6% (2/36) in 3-stage group (P = 1.00). During the period of follow-up, the rate of voluntary bowel movement was 90% (18/20) in 1-stage group and 94.4% (34/36) in 3-stage group (P = .94). Free from soiling or grade I soiling was 80% (16/20) in 1-stage group and 83.3% (30/36) in 3-stage group (P = 1.00); grade II soiling was found in 3 (10%) patients in 1-stage group and 85.7% in 3-stage group (P = .75); grade III soiling was found in 3 (10%) patients in 1-stage group and 85.7% in 3-stage group (P = 1.00). Three patients (15%) in 1-stage group and 5 patients (13.9%) in 3-stage group suffered from grade I constipation (P = 1.00); while 3 (15%) patients in 1-stage group and 4 patients (11.1%) in 3-stage group had grade II constipation (P = 1.00); no patients in the 2 groups suffered from grade III constipation.The 1-stage LAARP procedure for neonate with rectoprostatic and rectobulbar fistula can achieve comparable midterm outcomes as the conventional 3-stage LAARP procedure. It provides an alternative method to rectify the ARMs with rectoprostatic fistula and rectobulbar fistula without colostomy.

Introduction Mitochondrial dysfunction of septic children is unclear. Purpose To explore the relationship between mitochondrial complexes Ⅰ +Ⅲ enzyme activity of peripheral blood mononuclear cells (PBMC) and prognosis of septic children. Materials and Method 50 septic children aged from 1 month to 13 years treated in the emergency room and ICU of Capital Institute of Pediatrics and 50 healthy …

Purpose There is not a safe concentration of lead to human health. Although the average BLLs of children decline were observed in China, children’s exposure to lead is still common. Now, we use the data to show the change feature of childhood blood lead levels in China. Methods Children were selected from …

Purpose To explore the changes of plasma LL-37 in the bloodstream infected children. Methods 40 patients with bloodstream infection were included in case group,they visited the Capital Institute of Pediatrics Affiliated to Children's Hospital between May 30th and January 1st, 2015. Double blood cultures from different parts were positive in these children. 40 normal children with matched age and gender were control groups.We determine plasma LL-37 content of two groups by enzyme-linked immunosorbent,and observed evolution and prognosis of the disease. Results Case group can be divided into MODS group and …

This study investigated prognostic factors for early recovery of coronary artery lesion (CAL) in children with Kawasaki disease (KD).Patients hospitalized for KD were enrolled less than 2 wk from the onset of illness and divided into two groups: KD with CAL and KD without CAL. The CAL group was further divided into two subgroups according to the degree of CAL: mild (n = 31) and moderate/severe (n = 6) and further divided into two subgroups according to the age: younger than 1 y (n = 9) and older than 1 y (n = 28). Lectin pathway-related factors MASP-1, CD59, and C5b-9 were measured, along with C-reactive protein, white blood cell counts, erythrocyte sedimentation rate, and platelet count. Patients were followed up for 3 mo. Correlation between the measured factors and the length of time of recovery from CAL was analyzed.Plasma concentrations of MASP-1 in the CAL group were significantly lower than those without CAL. MASP-1 and gender positively correlated with the recovery time of CAL. There was no difference in MASP-1 between mild and moderate/severe CAL. At 3-mo follow-up, there was a positive correlation between plasma MASP-1 concentration and recovery time of the patients with CAL older than 1 y.Plasma MASP-1 concentration at the early stage of KD is predictive of length of time of recovery from CAL.

Background: The widespread threat of severe acute respiratory syndrome (SARS) to human life has spawned challenges to develop fast and accurate analytical methods for its early diagnosis and to create a safe antiviral vaccine for preventive use. Consequently, we thoroughly investigated the immunoreactivities with patient sera of a series of synthesized peptides from SARS-coronavirus structural proteins.Methods: We synthesized 41 peptides ranging in size from 16 to 25 amino acid residues of relatively high hydrophilicity. The immunoreactivities of the peptides with SARS patient sera were determined by ELISA.Results: Four epitopic sites, S599, M137, N66, and N371-404, located in the SARS-coronavirus S, M, and N proteins, respectively, were detected by screening synthesized peptides. Notably, N371 and N385, located at the COOH terminus of the N protein, inhibited binding of antibodies to SARS-coronavirus lysate and bound to antibodies in >94% of samples from SARS study patients. N385 had the highest affinity for forming peptide-antibody complexes with SARS serum.Conclusions: Five peptides from SARS structural proteins, especially two from the COOH terminus of the N protein, appear to be highly immunogenic and may be useful for serologic assays. The identification of these antigenic peptides contributes to the understanding of the immunogenicity and persistence of SARS coronavirus.

Streptococcal infection and basal ganglia inflammation are hypothesized to be involved in Tourette’s syndrome (TS). There is a need for effective therapies for managing TS. We studied streptococcal infection and immunity in TS following immunomodulator (pidotimod) therapy. Blood samples from 58 patients with TS and 128 age-matched healthy controls enabled measurement of antistreptolysin O (ASO), T cells, natural killer (NK) cells, interleukin-6 (IL-6) and interleukin-8 (IL-8), and tumor necrosis factor-α (TNF-α). Forty-four patients with abnormal T cell numbers were divided into two groups and treated with pidotimod granules (pidotimod group, n = 20) or pidotimod plus dopaminergic receptor antagonists (combination group, n = 24). Yale Global Tic Severity Scale (YGTSS) scores and immunologic indices were assessed after treatment. An ASO >1:200 was found in 22.4 % of children with TS, 7.5 % of controls, and 38.9 % of children with both TS and attention deficit hyperactivity disorder (ADHD) compared to 15.0 % of children with TS alone (P

Background Tryptophan hydroxylase-2 (TPH2) is a potential candidate gene for screening tic disorder (TD). Methods A case–control study was performed to examine the association between the TPH2 gene and TD. The Sequenom® Mass ARRAY iPLEX GOLD System was used to genotype two single nucleotide polymorphisms (SNPs) of the TPH2 gene in 149 TD children and in 125 normal controls. Results For rs4565946, individuals with the TT genotype showed a significantly higher risk of TD than those with TC plus CC genotypes [odds ratio (OR) =3.077, 95% confidence interval (CI): 1.273–7.437; P = 0.009], as did male TD children with the TT genotype (OR = 3.228, 95% CI: 1.153–9.040; P = 0.020). The G allele of rs4570625 was significantly more frequent in TD children with higher levels of tic symptoms (Yale Global Tic Severity Scale, YGTSS) than those in controls among the male children (OR = 1.684, 95%: 1.097–2.583; P = 0.017]. TD children with severe tic symptoms had significantly higher frequencies of rs4546946 TT genotype than did normal controls in boys (OR = 3.292, 95% CI: 1.139–9.513; P = 0.022). We also found that genotype distributions of both SNPs were different between the Asian and European populations. Conclusions Our results indicated that the TT genotype of rs4565946 is a potential genetic risk factor for TD, and the allele G of rs4570625 might be associated with the severity of tic symptoms in boys. These polymorphisms might be susceptibility loci for TD in the Chinese Han population. Because of the confounding of co-existing attention deficit hyperactivity disorder (ADHD),these findings need to be confirmed by studies in much larger samples.