Maternal sleep deprivation(MSD)is a global public health problem that affects the physical and mental development of pregnant women and their newborns.The latest research suggests that sleep deprivation(SD)disrupts th...Maternal sleep deprivation(MSD)is a global public health problem that affects the physical and mental development of pregnant women and their newborns.The latest research suggests that sleep deprivation(SD)disrupts the gut microbiota,leading to neuroinflammation and psychological disturbances.However,it is unclear whether MSD affects the establishment of gut microbiota and neuroinflammation in the newborns.In the present study,MSD was performed on pregnant SpragueDawley rats in the third trimester of pregnancy(gestational days 15-21),after which intestinal contents and brain tissues were collected from offspring at different postnatal days(P1,P7,P14,and P56).Based on microbial profiling,microbial diversity and richness increased in pregnant rats subjected to MSD,as reflected by the significant increase in the phylum Firmicutes.In addition,microbial dysbiosis marked by abundant Firmicutes bacteria was observed in the MSD offspring.Furthermore,quantitative real-time polymerase chain reaction(q RT-PCR)and enzyme-linked immunosorbent assay(ELISA)showed that the expression levels of proinflammatory cytokines interleukin 1β(IL-1β)and tumor necrosis factorα(TNF-α)were significantly higher in the MSD offspring at adulthood(P56)than in the control group.Through Spearman correlation analysis,IL-1βand TNF-αwere also shown to be positively correlated with Ruminococcus_1 and Ruminococcaceae_UCG-005 at P56,which may determine the microbiota-host interactions in MSDrelated neuroinflammation.Collectively,these results indicate that MSD changes maternal gut microbiota and affects the establishment of neonatal gut microbiota,leading to neuroinflammation in MSD offspring.Therefore,understanding the role of gut microbiota during physiological development may provide potential interventions for cognitive dysfunction in MSD-impacted offspring.展开更多
Labial adhesions (LA)(also called labial agglutination) are defined as partial or complete agglutination of labia minora. The condition commonly occurs in girls during childhood with an estimated prevalence of 0.6%–5...Labial adhesions (LA)(also called labial agglutination) are defined as partial or complete agglutination of labia minora. The condition commonly occurs in girls during childhood with an estimated prevalence of 0.6%–5%and a peak incidence in the age-group of 13–24 months[1]. Over half of all patients present with symptoms related to urinary outlet obstruction[2].展开更多
A female patient aged 3 months and 10 days was admitted to the cardiology department because of symptoms of heart failure.According to the echocardiography results,the patient received a diagnosis of primary endocardi...A female patient aged 3 months and 10 days was admitted to the cardiology department because of symptoms of heart failure.According to the echocardiography results,the patient received a diagnosis of primary endocardial fi broelastosis and was treated withγ-globulin,prednisone,digoxin,and diuretics.Coronary computed tomographic angiography and coronary angiography were performed as there was no improvement after 2 months of treatment.Finally,the patient received a diagnosis of anomalous origin of the left coronary artery from the pulmonary artery(ALCAPA).ALCAPA is a rare congenital heart defect that can cause severe heart failure during infancy,and is easily misdiagnosed clinically.In this report,we show the process of misdiagnosis of the case and consult the relevant literature,hoping to improve the understanding and early diagnosis of ALCAPA.展开更多
Objective:To summarize the clinical features and therapeutic effects of transcatheter embolotherapy for congenital pulmonary arteriovenous fi stulas(PAVFs)in children,and to explore the method and therapeutic principl...Objective:To summarize the clinical features and therapeutic effects of transcatheter embolotherapy for congenital pulmonary arteriovenous fi stulas(PAVFs)in children,and to explore the method and therapeutic principle of transcatheter embolotherapy for congenital PAVFs in children.Method:We retrospectively reviewed nine patients with PAVF who underwent transcatheter embolotherapy in the Children’s Hospital of Chongqing Medical University from July 2004 to July 2019,including the demographic characteristics,clinical manifestations,effi ciency of closure,and follow-up.Results:Transcatheter embolotherapy was successful in all cases,and the symptom remission rate was 100%during the follow-up.No residual shunts or other complications occurred during the follow-up period.Compared with before embolotherapy,there were signifi cant changes in the percentage of saturated oxyhemoglobin and total hemoglobin level at the last follow-up(t=10.06,P=0.000;t=3.055,P=0.0076).No signifi cant difference was observed in pulmonary artery pressure before and after embolotherapy(t=0.13,P=0.90).Conclusions:Transcatheter embolotherapy offers the advantages of safety,with a decreased risk of trauma and a specifi c effect of treatment,and therefore is recommended as the fi rst-line treatment for congenital PAVFs in children.However,continued research is necessary to understand the full potential of transcatheter embolotherapy.展开更多
<b><span style="font-family:Verdana;">Aim:</span></b><span style="font-family:""><span style="font-family:Verdana;"> The aim of this study was to ...<b><span style="font-family:Verdana;">Aim:</span></b><span style="font-family:""><span style="font-family:Verdana;"> The aim of this study was to investigate whether magnetic resonance spectrum (MRS) and MR imaging features can be used for non-invasive medulloblastoma subgrouping, and analyse patient characteristics and prognosis of molecular subtypes of medulloblastoma. </span><b><span style="font-family:Verdana;">Material and Methods: </span></b><span style="font-family:Verdana;">32 patients with medulloblastoma underwent MRI prior to surgical resection, 16 of them underwent MRS. MR imaging features and metabolites measured by MRS were analysed to distinguish molecular subtypes of medulloblastoma. Patient demographics, histopathological types, and prognosis of different molecular subtypes were analysed and compared respectively. </span><b><span style="font-family:Verdana;">Results: </span></b><span style="font-family:Verdana;">MRS and MR imaging features </span><span style="font-family:Verdana;">differed from different individuals, but without statistical significance that involves acquiring non-quantitative MR imaging features and NAA/Cr, Cho/Cr, Lip/Cr, Glu and Gln/Cr ratio, to be used to determine molecular subtypes. There was no significant difference of the three molecular subtypes in age, gender and pathological type. The 5-year event-free survival (EFS) of SHH, WNT and non SHH/WNT subtype respectively were 75%, 57.1%, 38.1%, with no significant difference (</span><i><span style="font-family:Verdana;">p</span></i><span style="font-family:Verdana;"> = 0.382). 5-year EFS of non SHH/WNT subtype was significantly higher in ≤3 years old group than >3 years old group (</span><i><span style="font-family:Verdana;">p </span></i><span style="font-family:Verdana;">= 0.047). </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> MRS and MR imaging features can’t be used to determine molecular subtypes based on our small sample study. There was no significant difference of the prognosis in the three molecular subtypes. The prognosis of ≤3 years old group of non SHH/WNT subtype is better than >3 years old group.展开更多
Objective:To investigate the etiological characteristics,clinical manifestations,and early identification methods of neonatal brain abscess.Methods:The baseline characteristics,clinical manifestations,and laboratory r...Objective:To investigate the etiological characteristics,clinical manifestations,and early identification methods of neonatal brain abscess.Methods:The baseline characteristics,clinical manifestations,and laboratory results of 12 neonatal brain abscess cases were retrospectively analyzed.Results:The clinical manifestations were fever,convulsion,and lethargy.A small number of them had respiratory and circulatory failure.The diagnosis made was based on imaging examination.All 12 cases were confirmed by cranial enhanced computed tomography(CT)or magnetic resonance imaging(MRI).Blood cultures of 9 cases were positive,with Escherichia coli in 6 cases,β-hemolytic Streptococcus in 1 case,methicillin-resistant Staphylococcus aureus in 1 case,and Enterococcus faecium in 1 case.However,only 3 of them had positive cerebrospinal fluid(CSF)cultures.All the 12 neonates were treated with antibiotic therapy upon admission,with only 3 cases treated with surgery.Among them,4 recovered and were discharged,while the remaining 8 discontinued their therapy.Conclusion:Escherichia coli is the most common pathogen of neonatal brain abscess in our study.The clinical manifestations of neonatal brain abscess are atypical,and the prognosis is poor.Respiratory and circulatory failure in children with intracranial infection may indicate the presence of brain abscess.For children with suspected brain abscess,cranial enhanced CT or MRI should be performed as soon as possible to make an early diagnosis.The prevention of brain abscess should be prioritized;neonates with sepsis or meningitis should receive prompt and strong antibiotic therapy in an effort to prevent the development of brain abscess.展开更多
SIL1,an endoplasmic reticulum(ER)-resident protein,is reported to play a protective role in Alzheimer’s disease(AD).However,the effect of SIL1 on amyloid precursor protein(APP)processing remains unclear.In this study...SIL1,an endoplasmic reticulum(ER)-resident protein,is reported to play a protective role in Alzheimer’s disease(AD).However,the effect of SIL1 on amyloid precursor protein(APP)processing remains unclear.In this study,the role of SIL1 in APP processing was explored both in vitro and in vivo.In the in vitro experiment,SIL1 was either overexpressed or knocked down in cells stably expressing the human Swedish mutant APP695.In the in vivo experiment,AAV-SIL1-EGFP or AAV-EGFP was microinjected into APP23/PS45 mice and their wild-type littermates.Western blotting(WB),immunohistochemistry,RNA sequencing(RNA-seq),and behavioral experiments were performed to evaluate the relevant parameters.Results indicated that SIL1 expression decreased in APP23/PS45 mice.Overexpression of SIL1 significantly decreased the protein levels of APP,presenilin-1(PS1),and C-terminal fragments(CTFs)of APP in vivo and in vitro.Conversely,knockdown of SIL1 increased the protein levels of APP,β-site APP cleavage enzyme 1(BACE1),PS1,and CTFs,as well as APP mRNA expression in 2EB2 cells.Furthermore,SIL1 overexpression reduced the number of senile plaques in APP23/PS45 mice.Importantly,Y-maze and Morris Water maze tests demonstrated that SIL1 overexpression improved cognitive impairment in APP23/PS45 mice.These findings indicate that SIL1 improves cognitive impairment in APP23/PS45 mice by inhibiting APP amyloidogenic processing and suggest that SIL1 is a potential therapeutic target for AD by modulating APP processing.展开更多
Objective:To compare the effects of the use and non-use of a disinfectant on the outcomes of separation of the labia minora in infants.Methods:The patients were randomly divided into an experimental group with 24 case...Objective:To compare the effects of the use and non-use of a disinfectant on the outcomes of separation of the labia minora in infants.Methods:The patients were randomly divided into an experimental group with 24 cases and a control group with 25 cases.In the control group,1%iodophor was used to clean and disinfect the large and small labia and the surrounding skin,while normal saline was used in the experimental group.Other procedures such as the surgery and nursing method were the same in both groups.Results:There were no symptoms of urinary tract infection such as redness of the vulva,swelling,pain,and abnormal urination in the test group and control group after three days of follow-up,and no recurrence was seen at one month of follow-up.There was no statistically significant difference between the two groups(P>0.05).Conclusion:Use or non-use of a disinfectant to clean the urethral opening before separation of the labia minora has no significant effect on the outcomes,and does not cause postoperative urinary tract infection symptoms.Moreover,non-use of a disinfectant can prevent local irritation and reduce the economic burden on the patients.展开更多
Hepatic ischemia-reperfusion injury is an unavoidable surgical complication of liver transplantation and the leading cause of poor graft function and increased mortality post-transplantation.Multiple mechanisms have b...Hepatic ischemia-reperfusion injury is an unavoidable surgical complication of liver transplantation and the leading cause of poor graft function and increased mortality post-transplantation.Multiple mechanisms have been implicated in ischemia-reperfusion injury;however,the characteristic changes at the transcriptional and metabolic levels in the early,intermediate,and late phases of ischemia-reperfusion injury remain unclear.In the study,mice underwent laparotomy following anesthesia,and the blood vessels of the liver were clipped using a vascular clamp to form 70%warm ischemia of the liver.Mouse liver sections and serum samples were collected and divided into the Sham,I1R12,11R24,and 11R48 groups.Transcriptomics and metabolomics analyses were performed to study characteristic alterations during the early,intermediate,and late phases of ischemia-reperfusion injury.Quantitative real-time PCR was used to validate the critical differentially expressed genes.The differentially expressed genes and metabolites were identified by transcriptomics and metabolomics analyses.Moreover,GO and KEGG enrichment analyses indicated that glucose metabolism remodeling,inflammatory response activation,and lipid metabolism remodeling were characteristic changes in the early,intermediate,and late phases of ischemia-reperfusion injury,respectively.In summary,our study revealed the importance of glucolipid metabolism in ischemia-reperfusion injury and provided potential therapeutic intervention targets and a new perspective to explore the underlying mechanisms of ischemia-reperfusion injury.展开更多
BACKGROUND Juvenile dermatomyositis(JDM)is an idiopathic inflammatory myopathy that occurs in childhood.It is characterized by muscle weakness and a characteristic rash.Previous literature reports have rarely describe...BACKGROUND Juvenile dermatomyositis(JDM)is an idiopathic inflammatory myopathy that occurs in childhood.It is characterized by muscle weakness and a characteristic rash.Previous literature reports have rarely described JDM with severe skin ulcers and infections.CASE SUMMARY Herein,we describe a case of a 2-year-old female patient who suffered from JDM,whose myositis-specific autoantibodies were positive for anti-nuclear matrix protein 2 antibody,with progressively worsening skin ulcers and severe infections.The patient was treated with glucocorticoids and various immunosuppressants.Nevertheless,further progression of the disease and the combination of primary disease and severe infection in the later period were fatal.CONCLUSION In children,anti-nuclear matrix protein 2+JDM combined with skin ulcers often indicates severe disease.In such cases,personalized treatment for the primary disease and infection prevention and control are essential.展开更多
Cancer cell genomes originate from single-cell mutation with sequential clonal and subclonal expansion of somatic mutation acquisition during pathogenesis,thus exhibiting a Darwinian evolutionary process(Gerstung et a...Cancer cell genomes originate from single-cell mutation with sequential clonal and subclonal expansion of somatic mutation acquisition during pathogenesis,thus exhibiting a Darwinian evolutionary process(Gerstung et al.,2020;Nik-Zainal et al.,2012).Through next-generation sequencing of tumor tissue,this evolutionary process can be characterized by statistical modelling,which can identify the clonal state,somatic mutation order,and evolutionary process(Gerstung et al.,2020;Mcgranahan&Swanton,2017).Inference of clonal and subclonal structure from bulk or single-cell tumor genomic sequencing data has a huge impact on studying cancer evolution.Clonal state and mutation order can provide detailed insight into tumor origin and future development.In the past decade,various methods for subclonal reconstruction using bulk tumor sequencing data have been developed.However,these methods had different programming languages and data input formats,which limited their use and comparison.Therefore,we established a web server for Clonal and Subclonal Structure Inference and Evolution(COSINE)of cancer genomic data,which incorporated twelve popular subclonal reconstruction methods.We deconstructed each method to provide a detailed workflow of single processing steps with a user-friendly interface.To the best of our knowledge,this is the first web server providing online subclonal inference based on the integration of most popular subclonal reconstruction methods.COSINE is freely accessible at www.clab-cosine.net.展开更多
We investigated the associations of clinical and socioeconomic factors with delayed orchidopexy for cryptorchidism in China. A retrospective study was conducted on cryptorchid boys who underwent orchidopexy at Childre...We investigated the associations of clinical and socioeconomic factors with delayed orchidopexy for cryptorchidism in China. A retrospective study was conducted on cryptorchid boys who underwent orchidopexy at Children's Hospital at Chongqing Medical University in China from January 2012 to December 2017. Of 2423 patients, 410 (16.9%) received timely repair by 18 months of age, beyond which surgery was considered delayed. Univariate analysis suggested that the laterality of cryptorchidism (P = 0.001), comorbidities including inguinal hernia/scrotal hydrocele (P < 0.001) or urinary tract disease (P = 0.016), and whether patients lived in a poverty county (P < 0.001) could influence whether orchidopexy was timely or delayed. Logistic regression analysis suggested that the following factors were associated with delayed repair: unilateral rather than bilateral cryptorchidism (odds ratio [OR]= 1.752, P < 0.001), absence of inguinal hernia or hydrocele (OR = 2.027, P = 0.019), absence of urinary tract disease (OR = 3.712, P < 0.001), and living in a poverty county (OR = 2.005, P < 0.001). The duration of postoperative hospital stay and hospital costs increased with the patient's age at the time of surgery.展开更多
We aimed to explore the associations between the age at which children undergo surgery for hypospadias and a range of social and clinical factors in a single center.Our aim was to promote the early surgical treatment ...We aimed to explore the associations between the age at which children undergo surgery for hypospadias and a range of social and clinical factors in a single center.Our aim was to promote the early surgical treatment of children with hypospadias.For a 6-year period,social and clinical data were collected from all children undergoing surgery to repair hypospadias in Children’s Hospital of Chongqing Medical University(Chongqing,China),located in southwest of China.We analyzed the correlations between age at surgery and a range of social and clinical factors.A total of 1611 eligible cases were recruited,with a mean age of 54.3 months and a median age of 42 months:234 cases(14.5%)were classified into a“timely operation”group,419(26.0%)cases into a“subtimely operation”group,and 958(59.5%)cases into a“delayed operation”group.According to multivariate regression analyses,the higher the regional economic level,the closer the urethral opening to the perineum,and the higher the educational level of the guardians was,the younger the children were when they underwent the initial surgery for hypospadias;this was also the case for families without other children.Our subgroup analysis showed that the primary educational level of the guardians was a risk factor for subtimely surgery in their children(odds ratio[OR]=1.52,95%confidence interval[CI]:1.08-2.15,P<0.05).A lower regional economic level(OR=1.87,95%CI:1.26-2.78,P<0.01),a lower educational level of the guardians(OR=3.84,95%CI:2.31-6.41,P<0.01),and an anterior-segment urethral opening(OR_(1)[vs middle hypospadias]=2.07,95%CI:1.42-3.03;0R_(2)[vs posterior hypospadias]=2.63,95%CI:1.75-3.95;P<0.01)were all risk factors for delayed surgery in children.展开更多
Dissecting the genetic components that contribute to the two main subphenotypes of steroid-sensitive nephrotic syndrome(SSNS)using genome-wide association studies(GWAS)strategy is important for understanding the disea...Dissecting the genetic components that contribute to the two main subphenotypes of steroid-sensitive nephrotic syndrome(SSNS)using genome-wide association studies(GWAS)strategy is important for understanding the disease.We conducted a multicenter cohort study(360 patients and 1835 controls)combined with a GWAS strategy to identify susceptibility var-iants associated with the following two subphenotypes of ssNS:steroid-sensitive nephrotic syn-drome without relapse(SSNswR,181 patients)and steroid-dependent/frequent relapse nephrotic syndrome(SDNS/FRNS,179 patients).The distribution of two single-nucleotide poly-morphisms(SNPs)in ANKRD36 and ALPG was significant between SSNSWR and healthy controls,and that of two SNPs in GAD1 and HLA-DQA1 was significant between SDNS/FRNS and healthy controls.Interestingly,rs1047989 in HLA-DQA1 was a candidate locus for SDNS/FRNS but not for SSNSWR.No significant SNPs were observed between SSNSWR and SDNS/FRNS.Meanwhile,chromosome 2:171713702 in GAD1 was associated with a greater steroid dose(>0.75 mg/kg/d)upon relapse to first remission in patients with SDNS/FRNS(odds ratio=3.14;95%confidence interval,0.97-9.87;P=0.034).rs117014418 in APOL4 was significantly associated with a decrease in eGFR of greater than 20%compared with the baseline in SDNS/FRNS patients(P=0.0001).Protein-protein intersection network construction suggested that HLA-DQA1 and HLA-DQB1 function together through GSDMA.Thus,SSNSWR belongs to non-HLA region-dependent nephropathy,and the HLA-DQA/DQB region is likely strongly associated with dis-ease relapse,especially in SDNS/FRNS.The study provides a novel approach for the GWAS strategy of SsNS and contributes to our understanding of the pathological mechanisms of SSNSWRandSDNS/FRNS.展开更多
Background To systematically evaluate the incidence characteristics of testicular microlithiasis(TM)in children and its association with primary testicular tumors(PTT).Methods A systematic review and meta-analysis wer...Background To systematically evaluate the incidence characteristics of testicular microlithiasis(TM)in children and its association with primary testicular tumors(PTT).Methods A systematic review and meta-analysis were conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analysis(PRISMA)statement.A priori protocol was registered in the PROSPERO database(CRD42018111119),and a literature search of all relevant studies published until February 2019 was performed.Prospective,retrospective cohort,or cross-sectional studies containing ultrasonography(US)data on the incidence of TM or the association between TM and PTT were eligible for inclusion.Results Of the 102 identified articles,18 studies involving 58,195 children were included in the final analysis.The overall incidence of TM in children with additional risk factors for FTT was 2.1%.In children,the proportion of left TM in unilateral cases was 55.7%,the frequency of bilateral TM was 69.0%,and proportion of classic TM was 71.8%[95%confidence interval(Cl)62.4-81.1%,P=0.0,72=0.0%].About 93.5%of TM remained unchanged,and newly detected PTT rate was very low(4/296)during follow-up.The overall risk ratio of TM in children with a concurrent diagnosis of PTT was 15.46(95%Cl 6.93-34.47,P<0.00001).Conclusions The incidence of TM in children is highly variable.Nonetheless,TM is usually bilateral,of the classic type,and remains stable or unchanged at follow-up.Pediatric patients with TM and contributing factors for PTT have an increased risk for PTT;however,there is no evidence to support mandatory US surveillance of children with TM.展开更多
We describe and summarize the diagnosis,treatment,and reasons for delayed treatment of children with cryptorchidism torsion in Children's Hospital of Chongqing Medical University.The study included 19 cases of cry...We describe and summarize the diagnosis,treatment,and reasons for delayed treatment of children with cryptorchidism torsion in Children's Hospital of Chongqing Medical University.The study included 19 cases of cryptorchidism torsion.The age of the children ranged from 16 days to 12 years(median:6 years).The interval from diagnosis to surgery varied from 4 h to 16 days(median:3 days).Ultrasound was performed in all cases.Fifteen cases had cryptorchidism torsion,2 cases had a soft tissue mass in the inguinal region,and 2 cases had an inguinal/abdominal teratoma.Five cases were treated with an orchidopexy,12 cases were treated with orchiectomy,and 2 cases received resection of a testicular tumor.The 5 children with an orchidopexy were followed up from 1 month to 7 years(median:3 years),with 1 child having a testis retraction and no blood supply.Of the 12 children who had an orchiectomy,three had delayed diagnosis due to family unawareness of the condition,while other delays were due to delayed referral from primary care facilities.The relative rarity and insufficient awareness of cryptorchidism torsion resulted in a low rate of testicular salvage.Therefore,hospitals of all levels should be fully aware of cryptorchidism with torsion and ensure a male child's genital system and inguinal region are examined to improve the success rate of testicular salvage.展开更多
Inherited cardiovascular diseases(CVDs)threaten human health and pose an enormous economic burden worldwide.Genetic alteration is a major risk factor for many CVDs.These disorders are usually controlled by a pair of a...Inherited cardiovascular diseases(CVDs)threaten human health and pose an enormous economic burden worldwide.Genetic alteration is a major risk factor for many CVDs.These disorders are usually controlled by a pair of alleles,affecting offspring according to the Mendelian principle,regardless of isolated primary damage or secondary injury from other syndromes or deficiency.To date,there are hundreds of inherited CVDs.With advances in nextgeneration sequencing(NGS)technologies,rapid and accurate molecular diagnosis of patients with inherited CVDs is clinically practical.Besides,great improvements have been made in recent years,and targeted therapy and assist devices have been used in clinical practice.Yet there is still no totally efficient strategy for dealing with inherited CVDs.Accordingly.展开更多
Background Pediatric antineutrophil cytoplasmic antibody-associated vasculitis(AAV)is a life-threatening systemic vasculitis featured by liability to renal involvement.However,there are few studies on the risk factors...Background Pediatric antineutrophil cytoplasmic antibody-associated vasculitis(AAV)is a life-threatening systemic vasculitis featured by liability to renal involvement.However,there are few studies on the risk factors and predictive models for renal outcomes of AAV in children.Methods Data from 179 AAV children in multiple centers between January 2012 and March 2020 were collected retrospectively.The risk factors and predictive model of end-stage renal disease(ESRD)in AAV were explored.Results Renal involvement was the most typical manifestation(95.5%),and the crescent was the predominant pathological lesion(84.9%).The estimated glomerular filtration rate(eGFR)was evaluated in 114 patients,of whom 59.6%developed ESRD,and the median time to ESRD was 3.20 months.The eGFR[P=0.006,odds ratio(OR)=0.955,95%confidence interval(CI)=0.924–0.987]and the percentages of global glomerulosclerosis(pGGS;P=0.018,OR=1.060,95%CI=1.010–1.112)were independent risk factors for ESRD of renal biopsy.Based on the pGGS and eGFR at renal biopsy,we developed three risk grades of ESRD and one predictive model.The Kaplan‒Meier curve indicated that renal outcomes were significantly different in different risk grades(P<0.001).Compared with serum creatinine at baseline,the predictive model had higher accuracy(0.86 versus 0.58,P<0.001)and a lower coefficient of variation(0.07 versus 0.92)in external validation.Conclusions Renal involvement is the most common manifestation of pediatric AAV in China,of which more than half deteriorates into ESRD.The predictive model based on eGFR at renal biopsy and the pGGS may be stable and accurate in speculating the risk of ESRD in AAV children.展开更多
Respiratory syncytial virus(RSV)is an enveloped,negative-sense,single-stranded RNA virus of the Orthopneumovirus genus of the Pneumoviridae family in the order Mononegavirales.RSV can cause acute upper and lower respi...Respiratory syncytial virus(RSV)is an enveloped,negative-sense,single-stranded RNA virus of the Orthopneumovirus genus of the Pneumoviridae family in the order Mononegavirales.RSV can cause acute upper and lower respiratory tract infections,sometimes with extrapulmonary complications.The disease burden of RSV infection is enormous,mainly affecting infants and older adults aged 75 years or above.Currently,treatment options for RSV are largely supportive.Prevention strategies remain a critical focus,with efforts centered on vaccine development and the use of prophylactic monoclonal antibodies.To date,three RSV vaccines have been approved for active immunization among individuals aged 60 years and above.For children who are not eligible for these vaccines,passive immunization is recommended.A newly approved prophylactic monoclonal antibody,Nirsevimab,which offers enhanced neutralizing activity and an extended half-life,provides exceptional protection for high-risk infants and young children.This review provides a comprehensive and detailed exploration of RSV’s virology,immunology,pathogenesis,epidemiology,clinical manifestations,treatment options,and prevention strategies.展开更多
BACKGROUND Few studies have addressed the effects of human leukocyte antigen(HLA)alleles on different clinical sub-phenotypes in childhood steroid-sensitive nephrotic syndrome(SSNS),including SSNS without recurrence(S...BACKGROUND Few studies have addressed the effects of human leukocyte antigen(HLA)alleles on different clinical sub-phenotypes in childhood steroid-sensitive nephrotic syndrome(SSNS),including SSNS without recurrence(SSNSWR)and steroid-dependent nephrotic syndrome/frequently relapse nephrotic syndrome(SDNS/FRNS).In this study,we investigated the relationship between HLA system and children with SSNSWR and SDNS/FRNS and clarified the value of HLA allele detection for precise typing of childhood SSNS.METHODS A total of 241 Chinese Han individuals with SSNS were genotyped using GenCap-WES Capture Kit,and four-digit resolution HLA alleles were imputed from available Genome Wide Association data.The distribution and carrying frequency of HLA alleles in SSNSWR and SDNS/FRNS were investigated.Additionally,logistic regression and mediating effects were used to examine the relationship between risk factors for disease process and HLA system.RESULTS Compared with SSNSWR,significantly decreased serum levels of complement 3(C3)and complement 4(C4)at onset were detected in SDNS/FRNS(C3,P<0.001;C4,P=0.018).The average time to remission after sufficient initial steroid treatment in SDNS/FRNS was significantly longer than that in SSNSWR(P=0.0001).Low level of C4 was further identified as an independent risk factor for SDNS/FRNS(P=0.008,odds ratio=0.174,95% confidence interval 0.048-0.630).The HLA-A*11:01 allele was independently associated with SSNSWR and SDNS/FRNS(P=0.0012 and P=0.0006,respectively).No significant HLA alleles were detected between SSNSWR and SDNS/FRNS.In addition,a mediating effect among HLA-I alleles(HLA-B*15:11,HLA-B*44:03 and HLA-C*07:06),C4 level and SDNS/FRNS was identified.CONCLUSIONS HLA-I alleles provide novel genetic markers for SSNSWR and SDNS/FRNS.HLA-I antigens may be involved in steroid dependent or frequent relapse in children with SSNS as mediators of immunoregulation.展开更多
基金supported by the National Natural Science Foundation of China(82071395,91749116)Natural Science Foundation of Chongqing(cstc2021ycjh-bgzxm0186,cstc2020jcyjzdxm X0004)+1 种基金Science and Technology Research Program of Chongqing Municipal Education Commission(KJZD-K201900403)Innovation Research Group at Institutions of Higher Education in Chongqing(CXQTP19034)。
文摘Maternal sleep deprivation(MSD)is a global public health problem that affects the physical and mental development of pregnant women and their newborns.The latest research suggests that sleep deprivation(SD)disrupts the gut microbiota,leading to neuroinflammation and psychological disturbances.However,it is unclear whether MSD affects the establishment of gut microbiota and neuroinflammation in the newborns.In the present study,MSD was performed on pregnant SpragueDawley rats in the third trimester of pregnancy(gestational days 15-21),after which intestinal contents and brain tissues were collected from offspring at different postnatal days(P1,P7,P14,and P56).Based on microbial profiling,microbial diversity and richness increased in pregnant rats subjected to MSD,as reflected by the significant increase in the phylum Firmicutes.In addition,microbial dysbiosis marked by abundant Firmicutes bacteria was observed in the MSD offspring.Furthermore,quantitative real-time polymerase chain reaction(q RT-PCR)and enzyme-linked immunosorbent assay(ELISA)showed that the expression levels of proinflammatory cytokines interleukin 1β(IL-1β)and tumor necrosis factorα(TNF-α)were significantly higher in the MSD offspring at adulthood(P56)than in the control group.Through Spearman correlation analysis,IL-1βand TNF-αwere also shown to be positively correlated with Ruminococcus_1 and Ruminococcaceae_UCG-005 at P56,which may determine the microbiota-host interactions in MSDrelated neuroinflammation.Collectively,these results indicate that MSD changes maternal gut microbiota and affects the establishment of neonatal gut microbiota,leading to neuroinflammation in MSD offspring.Therefore,understanding the role of gut microbiota during physiological development may provide potential interventions for cognitive dysfunction in MSD-impacted offspring.
基金supported by National Natural Science Foundation of China [NO.81873828] in the document search and data analysis
文摘Labial adhesions (LA)(also called labial agglutination) are defined as partial or complete agglutination of labia minora. The condition commonly occurs in girls during childhood with an estimated prevalence of 0.6%–5%and a peak incidence in the age-group of 13–24 months[1]. Over half of all patients present with symptoms related to urinary outlet obstruction[2].
基金The project was funded by the Natural Science Foundation of Chongqing Science and Technology Commission(cstc2019jcyj-msxmX0866).
文摘A female patient aged 3 months and 10 days was admitted to the cardiology department because of symptoms of heart failure.According to the echocardiography results,the patient received a diagnosis of primary endocardial fi broelastosis and was treated withγ-globulin,prednisone,digoxin,and diuretics.Coronary computed tomographic angiography and coronary angiography were performed as there was no improvement after 2 months of treatment.Finally,the patient received a diagnosis of anomalous origin of the left coronary artery from the pulmonary artery(ALCAPA).ALCAPA is a rare congenital heart defect that can cause severe heart failure during infancy,and is easily misdiagnosed clinically.In this report,we show the process of misdiagnosis of the case and consult the relevant literature,hoping to improve the understanding and early diagnosis of ALCAPA.
文摘Objective:To summarize the clinical features and therapeutic effects of transcatheter embolotherapy for congenital pulmonary arteriovenous fi stulas(PAVFs)in children,and to explore the method and therapeutic principle of transcatheter embolotherapy for congenital PAVFs in children.Method:We retrospectively reviewed nine patients with PAVF who underwent transcatheter embolotherapy in the Children’s Hospital of Chongqing Medical University from July 2004 to July 2019,including the demographic characteristics,clinical manifestations,effi ciency of closure,and follow-up.Results:Transcatheter embolotherapy was successful in all cases,and the symptom remission rate was 100%during the follow-up.No residual shunts or other complications occurred during the follow-up period.Compared with before embolotherapy,there were signifi cant changes in the percentage of saturated oxyhemoglobin and total hemoglobin level at the last follow-up(t=10.06,P=0.000;t=3.055,P=0.0076).No signifi cant difference was observed in pulmonary artery pressure before and after embolotherapy(t=0.13,P=0.90).Conclusions:Transcatheter embolotherapy offers the advantages of safety,with a decreased risk of trauma and a specifi c effect of treatment,and therefore is recommended as the fi rst-line treatment for congenital PAVFs in children.However,continued research is necessary to understand the full potential of transcatheter embolotherapy.
文摘<b><span style="font-family:Verdana;">Aim:</span></b><span style="font-family:""><span style="font-family:Verdana;"> The aim of this study was to investigate whether magnetic resonance spectrum (MRS) and MR imaging features can be used for non-invasive medulloblastoma subgrouping, and analyse patient characteristics and prognosis of molecular subtypes of medulloblastoma. </span><b><span style="font-family:Verdana;">Material and Methods: </span></b><span style="font-family:Verdana;">32 patients with medulloblastoma underwent MRI prior to surgical resection, 16 of them underwent MRS. MR imaging features and metabolites measured by MRS were analysed to distinguish molecular subtypes of medulloblastoma. Patient demographics, histopathological types, and prognosis of different molecular subtypes were analysed and compared respectively. </span><b><span style="font-family:Verdana;">Results: </span></b><span style="font-family:Verdana;">MRS and MR imaging features </span><span style="font-family:Verdana;">differed from different individuals, but without statistical significance that involves acquiring non-quantitative MR imaging features and NAA/Cr, Cho/Cr, Lip/Cr, Glu and Gln/Cr ratio, to be used to determine molecular subtypes. There was no significant difference of the three molecular subtypes in age, gender and pathological type. The 5-year event-free survival (EFS) of SHH, WNT and non SHH/WNT subtype respectively were 75%, 57.1%, 38.1%, with no significant difference (</span><i><span style="font-family:Verdana;">p</span></i><span style="font-family:Verdana;"> = 0.382). 5-year EFS of non SHH/WNT subtype was significantly higher in ≤3 years old group than >3 years old group (</span><i><span style="font-family:Verdana;">p </span></i><span style="font-family:Verdana;">= 0.047). </span><b><span style="font-family:Verdana;">Conclusion:</span></b><span style="font-family:Verdana;"> MRS and MR imaging features can’t be used to determine molecular subtypes based on our small sample study. There was no significant difference of the prognosis in the three molecular subtypes. The prognosis of ≤3 years old group of non SHH/WNT subtype is better than >3 years old group.
文摘Objective:To investigate the etiological characteristics,clinical manifestations,and early identification methods of neonatal brain abscess.Methods:The baseline characteristics,clinical manifestations,and laboratory results of 12 neonatal brain abscess cases were retrospectively analyzed.Results:The clinical manifestations were fever,convulsion,and lethargy.A small number of them had respiratory and circulatory failure.The diagnosis made was based on imaging examination.All 12 cases were confirmed by cranial enhanced computed tomography(CT)or magnetic resonance imaging(MRI).Blood cultures of 9 cases were positive,with Escherichia coli in 6 cases,β-hemolytic Streptococcus in 1 case,methicillin-resistant Staphylococcus aureus in 1 case,and Enterococcus faecium in 1 case.However,only 3 of them had positive cerebrospinal fluid(CSF)cultures.All the 12 neonates were treated with antibiotic therapy upon admission,with only 3 cases treated with surgery.Among them,4 recovered and were discharged,while the remaining 8 discontinued their therapy.Conclusion:Escherichia coli is the most common pathogen of neonatal brain abscess in our study.The clinical manifestations of neonatal brain abscess are atypical,and the prognosis is poor.Respiratory and circulatory failure in children with intracranial infection may indicate the presence of brain abscess.For children with suspected brain abscess,cranial enhanced CT or MRI should be performed as soon as possible to make an early diagnosis.The prevention of brain abscess should be prioritized;neonates with sepsis or meningitis should receive prompt and strong antibiotic therapy in an effort to prevent the development of brain abscess.
基金National Natural Science Foundation of China(82230043,82293642)。
文摘SIL1,an endoplasmic reticulum(ER)-resident protein,is reported to play a protective role in Alzheimer’s disease(AD).However,the effect of SIL1 on amyloid precursor protein(APP)processing remains unclear.In this study,the role of SIL1 in APP processing was explored both in vitro and in vivo.In the in vitro experiment,SIL1 was either overexpressed or knocked down in cells stably expressing the human Swedish mutant APP695.In the in vivo experiment,AAV-SIL1-EGFP or AAV-EGFP was microinjected into APP23/PS45 mice and their wild-type littermates.Western blotting(WB),immunohistochemistry,RNA sequencing(RNA-seq),and behavioral experiments were performed to evaluate the relevant parameters.Results indicated that SIL1 expression decreased in APP23/PS45 mice.Overexpression of SIL1 significantly decreased the protein levels of APP,presenilin-1(PS1),and C-terminal fragments(CTFs)of APP in vivo and in vitro.Conversely,knockdown of SIL1 increased the protein levels of APP,β-site APP cleavage enzyme 1(BACE1),PS1,and CTFs,as well as APP mRNA expression in 2EB2 cells.Furthermore,SIL1 overexpression reduced the number of senile plaques in APP23/PS45 mice.Importantly,Y-maze and Morris Water maze tests demonstrated that SIL1 overexpression improved cognitive impairment in APP23/PS45 mice.These findings indicate that SIL1 improves cognitive impairment in APP23/PS45 mice by inhibiting APP amyloidogenic processing and suggest that SIL1 is a potential therapeutic target for AD by modulating APP processing.
文摘Objective:To compare the effects of the use and non-use of a disinfectant on the outcomes of separation of the labia minora in infants.Methods:The patients were randomly divided into an experimental group with 24 cases and a control group with 25 cases.In the control group,1%iodophor was used to clean and disinfect the large and small labia and the surrounding skin,while normal saline was used in the experimental group.Other procedures such as the surgery and nursing method were the same in both groups.Results:There were no symptoms of urinary tract infection such as redness of the vulva,swelling,pain,and abnormal urination in the test group and control group after three days of follow-up,and no recurrence was seen at one month of follow-up.There was no statistically significant difference between the two groups(P>0.05).Conclusion:Use or non-use of a disinfectant to clean the urethral opening before separation of the labia minora has no significant effect on the outcomes,and does not cause postoperative urinary tract infection symptoms.Moreover,non-use of a disinfectant can prevent local irritation and reduce the economic burden on the patients.
基金funded by the National Natural Science Foundation of China (No.82300745 to Yanyao Liu)China Postdoctoral Science Foundation (No.2023M730442 to Yanyao Liu)+2 种基金Chongqing Postdoctoral Science Foundation of China (No.CSTB2023NSCQ-BHX1003 to Yanyao Liu)Postdoctoral Cultivation Project of the First Affiliated Hospital of Chongqing Medical University (No.CYYY-BSHPYXM-202301 to Yanyao Liu)Chongqing Postdoctoral Innovation Talents Support Program (Chongqing,China) (No.2309013437264551 to Yanyao Liu)。
文摘Hepatic ischemia-reperfusion injury is an unavoidable surgical complication of liver transplantation and the leading cause of poor graft function and increased mortality post-transplantation.Multiple mechanisms have been implicated in ischemia-reperfusion injury;however,the characteristic changes at the transcriptional and metabolic levels in the early,intermediate,and late phases of ischemia-reperfusion injury remain unclear.In the study,mice underwent laparotomy following anesthesia,and the blood vessels of the liver were clipped using a vascular clamp to form 70%warm ischemia of the liver.Mouse liver sections and serum samples were collected and divided into the Sham,I1R12,11R24,and 11R48 groups.Transcriptomics and metabolomics analyses were performed to study characteristic alterations during the early,intermediate,and late phases of ischemia-reperfusion injury.Quantitative real-time PCR was used to validate the critical differentially expressed genes.The differentially expressed genes and metabolites were identified by transcriptomics and metabolomics analyses.Moreover,GO and KEGG enrichment analyses indicated that glucose metabolism remodeling,inflammatory response activation,and lipid metabolism remodeling were characteristic changes in the early,intermediate,and late phases of ischemia-reperfusion injury,respectively.In summary,our study revealed the importance of glucolipid metabolism in ischemia-reperfusion injury and provided potential therapeutic intervention targets and a new perspective to explore the underlying mechanisms of ischemia-reperfusion injury.
文摘BACKGROUND Juvenile dermatomyositis(JDM)is an idiopathic inflammatory myopathy that occurs in childhood.It is characterized by muscle weakness and a characteristic rash.Previous literature reports have rarely described JDM with severe skin ulcers and infections.CASE SUMMARY Herein,we describe a case of a 2-year-old female patient who suffered from JDM,whose myositis-specific autoantibodies were positive for anti-nuclear matrix protein 2 antibody,with progressively worsening skin ulcers and severe infections.The patient was treated with glucocorticoids and various immunosuppressants.Nevertheless,further progression of the disease and the combination of primary disease and severe infection in the later period were fatal.CONCLUSION In children,anti-nuclear matrix protein 2+JDM combined with skin ulcers often indicates severe disease.In such cases,personalized treatment for the primary disease and infection prevention and control are essential.
基金supported by the CAS Pioneer Hundred Talents Program and National Natural Science Foundation of China(32070683)to Y.P.C.the Science and Technology Planning Project of XI'AN(GXYD6.2)National Natural Science Foundation of China(61771369)to X.G.Y.
文摘Cancer cell genomes originate from single-cell mutation with sequential clonal and subclonal expansion of somatic mutation acquisition during pathogenesis,thus exhibiting a Darwinian evolutionary process(Gerstung et al.,2020;Nik-Zainal et al.,2012).Through next-generation sequencing of tumor tissue,this evolutionary process can be characterized by statistical modelling,which can identify the clonal state,somatic mutation order,and evolutionary process(Gerstung et al.,2020;Mcgranahan&Swanton,2017).Inference of clonal and subclonal structure from bulk or single-cell tumor genomic sequencing data has a huge impact on studying cancer evolution.Clonal state and mutation order can provide detailed insight into tumor origin and future development.In the past decade,various methods for subclonal reconstruction using bulk tumor sequencing data have been developed.However,these methods had different programming languages and data input formats,which limited their use and comparison.Therefore,we established a web server for Clonal and Subclonal Structure Inference and Evolution(COSINE)of cancer genomic data,which incorporated twelve popular subclonal reconstruction methods.We deconstructed each method to provide a detailed workflow of single processing steps with a user-friendly interface.To the best of our knowledge,this is the first web server providing online subclonal inference based on the integration of most popular subclonal reconstruction methods.COSINE is freely accessible at www.clab-cosine.net.
基金the National Natural Science Foundation of China (Grant No. 81571425).
文摘We investigated the associations of clinical and socioeconomic factors with delayed orchidopexy for cryptorchidism in China. A retrospective study was conducted on cryptorchid boys who underwent orchidopexy at Children's Hospital at Chongqing Medical University in China from January 2012 to December 2017. Of 2423 patients, 410 (16.9%) received timely repair by 18 months of age, beyond which surgery was considered delayed. Univariate analysis suggested that the laterality of cryptorchidism (P = 0.001), comorbidities including inguinal hernia/scrotal hydrocele (P < 0.001) or urinary tract disease (P = 0.016), and whether patients lived in a poverty county (P < 0.001) could influence whether orchidopexy was timely or delayed. Logistic regression analysis suggested that the following factors were associated with delayed repair: unilateral rather than bilateral cryptorchidism (odds ratio [OR]= 1.752, P < 0.001), absence of inguinal hernia or hydrocele (OR = 2.027, P = 0.019), absence of urinary tract disease (OR = 3.712, P < 0.001), and living in a poverty county (OR = 2.005, P < 0.001). The duration of postoperative hospital stay and hospital costs increased with the patient's age at the time of surgery.
基金the National Natural Science Foundation of China(No.81970571)。
文摘We aimed to explore the associations between the age at which children undergo surgery for hypospadias and a range of social and clinical factors in a single center.Our aim was to promote the early surgical treatment of children with hypospadias.For a 6-year period,social and clinical data were collected from all children undergoing surgery to repair hypospadias in Children’s Hospital of Chongqing Medical University(Chongqing,China),located in southwest of China.We analyzed the correlations between age at surgery and a range of social and clinical factors.A total of 1611 eligible cases were recruited,with a mean age of 54.3 months and a median age of 42 months:234 cases(14.5%)were classified into a“timely operation”group,419(26.0%)cases into a“subtimely operation”group,and 958(59.5%)cases into a“delayed operation”group.According to multivariate regression analyses,the higher the regional economic level,the closer the urethral opening to the perineum,and the higher the educational level of the guardians was,the younger the children were when they underwent the initial surgery for hypospadias;this was also the case for families without other children.Our subgroup analysis showed that the primary educational level of the guardians was a risk factor for subtimely surgery in their children(odds ratio[OR]=1.52,95%confidence interval[CI]:1.08-2.15,P<0.05).A lower regional economic level(OR=1.87,95%CI:1.26-2.78,P<0.01),a lower educational level of the guardians(OR=3.84,95%CI:2.31-6.41,P<0.01),and an anterior-segment urethral opening(OR_(1)[vs middle hypospadias]=2.07,95%CI:1.42-3.03;0R_(2)[vs posterior hypospadias]=2.63,95%CI:1.75-3.95;P<0.01)were all risk factors for delayed surgery in children.
基金funded by the China National Natural Science Foundation(No.81970618,82170720,82200788)China National Clinical Research Centre Foundation(No.NCRC-2019-GP-02)+2 种基金Science and Technology Research Project of Chongqing Education Commission of China(No.KJZDM201900401)Chongqing Science and Health Joint Medical Research Project(China)(No.2023GGXM001)National Key R&D Program of China(No.2022YFC2705101).
文摘Dissecting the genetic components that contribute to the two main subphenotypes of steroid-sensitive nephrotic syndrome(SSNS)using genome-wide association studies(GWAS)strategy is important for understanding the disease.We conducted a multicenter cohort study(360 patients and 1835 controls)combined with a GWAS strategy to identify susceptibility var-iants associated with the following two subphenotypes of ssNS:steroid-sensitive nephrotic syn-drome without relapse(SSNswR,181 patients)and steroid-dependent/frequent relapse nephrotic syndrome(SDNS/FRNS,179 patients).The distribution of two single-nucleotide poly-morphisms(SNPs)in ANKRD36 and ALPG was significant between SSNSWR and healthy controls,and that of two SNPs in GAD1 and HLA-DQA1 was significant between SDNS/FRNS and healthy controls.Interestingly,rs1047989 in HLA-DQA1 was a candidate locus for SDNS/FRNS but not for SSNSWR.No significant SNPs were observed between SSNSWR and SDNS/FRNS.Meanwhile,chromosome 2:171713702 in GAD1 was associated with a greater steroid dose(>0.75 mg/kg/d)upon relapse to first remission in patients with SDNS/FRNS(odds ratio=3.14;95%confidence interval,0.97-9.87;P=0.034).rs117014418 in APOL4 was significantly associated with a decrease in eGFR of greater than 20%compared with the baseline in SDNS/FRNS patients(P=0.0001).Protein-protein intersection network construction suggested that HLA-DQA1 and HLA-DQB1 function together through GSDMA.Thus,SSNSWR belongs to non-HLA region-dependent nephropathy,and the HLA-DQA/DQB region is likely strongly associated with dis-ease relapse,especially in SDNS/FRNS.The study provides a novel approach for the GWAS strategy of SsNS and contributes to our understanding of the pathological mechanisms of SSNSWRandSDNS/FRNS.
基金This study was supported by the National Natural Science Foundation of China(Protocol no.81873828).
文摘Background To systematically evaluate the incidence characteristics of testicular microlithiasis(TM)in children and its association with primary testicular tumors(PTT).Methods A systematic review and meta-analysis were conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analysis(PRISMA)statement.A priori protocol was registered in the PROSPERO database(CRD42018111119),and a literature search of all relevant studies published until February 2019 was performed.Prospective,retrospective cohort,or cross-sectional studies containing ultrasonography(US)data on the incidence of TM or the association between TM and PTT were eligible for inclusion.Results Of the 102 identified articles,18 studies involving 58,195 children were included in the final analysis.The overall incidence of TM in children with additional risk factors for FTT was 2.1%.In children,the proportion of left TM in unilateral cases was 55.7%,the frequency of bilateral TM was 69.0%,and proportion of classic TM was 71.8%[95%confidence interval(Cl)62.4-81.1%,P=0.0,72=0.0%].About 93.5%of TM remained unchanged,and newly detected PTT rate was very low(4/296)during follow-up.The overall risk ratio of TM in children with a concurrent diagnosis of PTT was 15.46(95%Cl 6.93-34.47,P<0.00001).Conclusions The incidence of TM in children is highly variable.Nonetheless,TM is usually bilateral,of the classic type,and remains stable or unchanged at follow-up.Pediatric patients with TM and contributing factors for PTT have an increased risk for PTT;however,there is no evidence to support mandatory US surveillance of children with TM.
基金supported by the Basic Research and Frontier Exploration Project of Chongqing Science and Technology Bureau of Yuzhong District(No.20200151).
文摘We describe and summarize the diagnosis,treatment,and reasons for delayed treatment of children with cryptorchidism torsion in Children's Hospital of Chongqing Medical University.The study included 19 cases of cryptorchidism torsion.The age of the children ranged from 16 days to 12 years(median:6 years).The interval from diagnosis to surgery varied from 4 h to 16 days(median:3 days).Ultrasound was performed in all cases.Fifteen cases had cryptorchidism torsion,2 cases had a soft tissue mass in the inguinal region,and 2 cases had an inguinal/abdominal teratoma.Five cases were treated with an orchidopexy,12 cases were treated with orchiectomy,and 2 cases received resection of a testicular tumor.The 5 children with an orchidopexy were followed up from 1 month to 7 years(median:3 years),with 1 child having a testis retraction and no blood supply.Of the 12 children who had an orchiectomy,three had delayed diagnosis due to family unawareness of the condition,while other delays were due to delayed referral from primary care facilities.The relative rarity and insufficient awareness of cryptorchidism torsion resulted in a low rate of testicular salvage.Therefore,hospitals of all levels should be fully aware of cryptorchidism with torsion and ensure a male child's genital system and inguinal region are examined to improve the success rate of testicular salvage.
基金Key R&D Program of Sichuan Province of China(No.2021YFQ0061)Science and Technology Department of Sichuan Province(No.2022ZYD0067 and MSGC20230024)+2 种基金Natural Science Foundation of China(Nos.82070324,82001496,and 82270249)Project of Chengdu Science and Technology Bureau(No.2021-YF05-02110-SN)China Postdoctoral Science Foundation(Nos.2020M680149 and 2020T130087ZX)
文摘Inherited cardiovascular diseases(CVDs)threaten human health and pose an enormous economic burden worldwide.Genetic alteration is a major risk factor for many CVDs.These disorders are usually controlled by a pair of alleles,affecting offspring according to the Mendelian principle,regardless of isolated primary damage or secondary injury from other syndromes or deficiency.To date,there are hundreds of inherited CVDs.With advances in nextgeneration sequencing(NGS)technologies,rapid and accurate molecular diagnosis of patients with inherited CVDs is clinically practical.Besides,great improvements have been made in recent years,and targeted therapy and assist devices have been used in clinical practice.Yet there is still no totally efficient strategy for dealing with inherited CVDs.Accordingly.
基金approved by the Ethics Committee of the Children’s Hospital of Chongqing Medical University(approval Number:149/2022)other enrolled centers.This study was registered at the Chinese Clinical Trial Registry(registered number:ChiCTR2000034203).
文摘Background Pediatric antineutrophil cytoplasmic antibody-associated vasculitis(AAV)is a life-threatening systemic vasculitis featured by liability to renal involvement.However,there are few studies on the risk factors and predictive models for renal outcomes of AAV in children.Methods Data from 179 AAV children in multiple centers between January 2012 and March 2020 were collected retrospectively.The risk factors and predictive model of end-stage renal disease(ESRD)in AAV were explored.Results Renal involvement was the most typical manifestation(95.5%),and the crescent was the predominant pathological lesion(84.9%).The estimated glomerular filtration rate(eGFR)was evaluated in 114 patients,of whom 59.6%developed ESRD,and the median time to ESRD was 3.20 months.The eGFR[P=0.006,odds ratio(OR)=0.955,95%confidence interval(CI)=0.924–0.987]and the percentages of global glomerulosclerosis(pGGS;P=0.018,OR=1.060,95%CI=1.010–1.112)were independent risk factors for ESRD of renal biopsy.Based on the pGGS and eGFR at renal biopsy,we developed three risk grades of ESRD and one predictive model.The Kaplan‒Meier curve indicated that renal outcomes were significantly different in different risk grades(P<0.001).Compared with serum creatinine at baseline,the predictive model had higher accuracy(0.86 versus 0.58,P<0.001)and a lower coefficient of variation(0.07 versus 0.92)in external validation.Conclusions Renal involvement is the most common manifestation of pediatric AAV in China,of which more than half deteriorates into ESRD.The predictive model based on eGFR at renal biopsy and the pGGS may be stable and accurate in speculating the risk of ESRD in AAV children.
文摘Respiratory syncytial virus(RSV)is an enveloped,negative-sense,single-stranded RNA virus of the Orthopneumovirus genus of the Pneumoviridae family in the order Mononegavirales.RSV can cause acute upper and lower respiratory tract infections,sometimes with extrapulmonary complications.The disease burden of RSV infection is enormous,mainly affecting infants and older adults aged 75 years or above.Currently,treatment options for RSV are largely supportive.Prevention strategies remain a critical focus,with efforts centered on vaccine development and the use of prophylactic monoclonal antibodies.To date,three RSV vaccines have been approved for active immunization among individuals aged 60 years and above.For children who are not eligible for these vaccines,passive immunization is recommended.A newly approved prophylactic monoclonal antibody,Nirsevimab,which offers enhanced neutralizing activity and an extended half-life,provides exceptional protection for high-risk infants and young children.This review provides a comprehensive and detailed exploration of RSV’s virology,immunology,pathogenesis,epidemiology,clinical manifestations,treatment options,and prevention strategies.
基金funded by the China National Natural Science Foundation(No.81770713)China National Clinical Research Center Foundation(No.YBXM-2019-002).
文摘BACKGROUND Few studies have addressed the effects of human leukocyte antigen(HLA)alleles on different clinical sub-phenotypes in childhood steroid-sensitive nephrotic syndrome(SSNS),including SSNS without recurrence(SSNSWR)and steroid-dependent nephrotic syndrome/frequently relapse nephrotic syndrome(SDNS/FRNS).In this study,we investigated the relationship between HLA system and children with SSNSWR and SDNS/FRNS and clarified the value of HLA allele detection for precise typing of childhood SSNS.METHODS A total of 241 Chinese Han individuals with SSNS were genotyped using GenCap-WES Capture Kit,and four-digit resolution HLA alleles were imputed from available Genome Wide Association data.The distribution and carrying frequency of HLA alleles in SSNSWR and SDNS/FRNS were investigated.Additionally,logistic regression and mediating effects were used to examine the relationship between risk factors for disease process and HLA system.RESULTS Compared with SSNSWR,significantly decreased serum levels of complement 3(C3)and complement 4(C4)at onset were detected in SDNS/FRNS(C3,P<0.001;C4,P=0.018).The average time to remission after sufficient initial steroid treatment in SDNS/FRNS was significantly longer than that in SSNSWR(P=0.0001).Low level of C4 was further identified as an independent risk factor for SDNS/FRNS(P=0.008,odds ratio=0.174,95% confidence interval 0.048-0.630).The HLA-A*11:01 allele was independently associated with SSNSWR and SDNS/FRNS(P=0.0012 and P=0.0006,respectively).No significant HLA alleles were detected between SSNSWR and SDNS/FRNS.In addition,a mediating effect among HLA-I alleles(HLA-B*15:11,HLA-B*44:03 and HLA-C*07:06),C4 level and SDNS/FRNS was identified.CONCLUSIONS HLA-I alleles provide novel genetic markers for SSNSWR and SDNS/FRNS.HLA-I antigens may be involved in steroid dependent or frequent relapse in children with SSNS as mediators of immunoregulation.
