Fifteen pediatric cases of suspected Japanese encephalitis (JE) were reported in Beijing Children's Hospital during the late summer of 2013. The clinical manifestations in most cases included high fever, seizures, ...Fifteen pediatric cases of suspected Japanese encephalitis (JE) were reported in Beijing Children's Hospital during the late summer of 2013. The clinical manifestations in most cases included high fever, seizures, and abnormal magnetic resonance imaging findings. Twelve of 15 cases were laboratory-confirmed as JE cases by pathogen identification. Epidemiological investigations showed that five of the 12 laboratory-confirmed patients had an incomplete JE vaccination history. Follow-up investigations after discharge indicated that seven laboratory-confirmed JE patients without JE vaccinations had relatively poor prognoses, with an average Modified Rankin Scale (MRS) score of 2.6 when compared with the other five laboratory-confirmed, JE-vaccinated patients with an average MRS score of 0.5. The observation of pediatric JE cases among those with a history of JE vaccination warrants further attention.展开更多
Proteolytic cleavage of tau by asparagine endopeptidase(AEP)creates tau-N368 fragments,which may drive the pathophysiology associated with synaptic dysfunction and memory deterioration in the brain of Alzheimer’s dis...Proteolytic cleavage of tau by asparagine endopeptidase(AEP)creates tau-N368 fragments,which may drive the pathophysiology associated with synaptic dysfunction and memory deterioration in the brain of Alzheimer’s disease patients.Nonetheless,the molecular mechanisms of truncated tau-induced cognitive deficits remain unclear.Evidence suggests that signal transduction and activator of transcription-3(STAT3)is associated with modulating synaptic plasticity,cell apoptosis,and cognitive function.Using luciferase reporter assays,electrophoretic mobility shift assays,western blotting,and immunofluorescence,we found that human tau-N368 accumulation inhibited STAT3 activity by suppressing STAT3 translocation into the nucleus.Overexpression of STAT3 improved tau-N368-induced synaptic deficits and reduced neuronal loss,thereby improving the cognitive deficits in tau-N368 mice.Moreover,in tau-N368 mice,activation of STAT3 increased N-methyl-D-aspartic acid receptor levels,decreased Bcl-2 levels,reversed synaptic damage and neuronal loss,and thereby alleviated cognitive deficits caused by tau-N368.Taken together,STAT3 plays a critical role in truncated tau-related neuropathological changes.This indicates a new mechanism behind the effect of tau-N368 on synapses and memory deficits.STAT3 can be used as a new molecular target to treat tau-N368-induced protein pathology.展开更多
BACKGROUND Umbilical artery thrombosis(UAT)is extremely uncommon and leads to adverse perinatal outcomes.Hypercoagulation of blood in pregnant women is suspected to be an important risk for UAT.Ultrasound is an effect...BACKGROUND Umbilical artery thrombosis(UAT)is extremely uncommon and leads to adverse perinatal outcomes.Hypercoagulation of blood in pregnant women is suspected to be an important risk for UAT.Ultrasound is an effective way to detect thrombosis.The mother can monitor her own fetal health using ultrasound,which enables her to take preventative action in case of emergency.AIM To investigate ultrasonic blood signal after UAT in the umbilical artery,and evaluate the relationship between hypercoagulability and UAT.METHODS We described a case of a newly formed UAT with markedly altered ultrasonic indices of umbilical artery blood flow,and retrospectively studied it with 18 UAT patients confirmed by histopathology from October 2019 and March 2023 in Xiamen Women and Children's Hospital.Patients’information was collected from medical archives,including maternal clinical data,neonatal outcomes,pathological findings and ultrasonic indices of umbilical artery blood flow,such as systolic-diastolic duration ratio(S/D),resistance index(RI),pulsatility index(PI)and peak systolic velocity(PSV).Ultrasound and coagulation indices were analyzed with matched samples t-test and Wilcoxon rank sum test using the statistical packages in R(version 4.2.1)including car(version 3.1-0)and stats(version 4.2.1),and visualized by ggplot2 package(version 3.3.6).RESULTS A patient with normal findings in second and third-trimester routine ultrasound scan developed UAT with severe changes in ultrasonic indices of umbilical artery blood flow(within 2.5th of reference ranges)in a short period of time.Statistical analysis of umbilical artery blood flow ultrasound indices for 19 patients with UAT showed that the decrease in S/D,RI,and PI and increase of PSV during the disease process was greater than that of non-UAT.All 18 patients delivered in our hospital showed characteristic manifestations of UAT on histological examination after delivery,most of which(16/18)showed umbilical cord abnormalities,with 15 umbilical cord torsion and 1 pseudoknot.Coagulation parameters were not significantly changed in UAT patients compared with normal pregnancy women.CONCLUSION Significant changes in ultrasound indicators after UAT were demonstrated.PSV can play important roles in the diagnosis of UAT.Hypercoagulability alone is not sufficient for the occurrence of UAT.展开更多
BACKGROUND This case of gestational gingival tumor is huge and extremely rare in clinical practice.As the growth location of this gingival tumor is in the upper anterior tooth area,it seriously affects the pregnant wo...BACKGROUND This case of gestational gingival tumor is huge and extremely rare in clinical practice.As the growth location of this gingival tumor is in the upper anterior tooth area,it seriously affects the pregnant woman's speech and food,causing great pain to the patient.The use of Nd:YGA water mist laser to remove the gingival tumor resulted in minimal intraoperative bleeding,minimal adverse reactions,and good postoperative healing,which is worthy of clinical promotion and application.CASE SUMMARY The patient,a pregnant woman,reported a large lump in her mouth on the first day of postpartum treatment.Based on medical history and clinical examination,the diagnosis was diagnosed as gestational gingival tumor.Postoperative pathological biopsy also confirmed this diagnosis.The use of Nd:YAG water mist laser to remove the tumor resulted in minimal intraoperative bleeding,clear surgical field of view,short surgical time,and good postoperative healing.CONCLUSION In comparison to traditional surgery,Nd:YAG water mist laser surgery is minimally invasive,minimizes cell damage,reduces bleeding,ensures a clear field of vision,and virtually eliminates postoperative edema,carbonization,and the risk of cross infection.It has unique advantages in oral soft tissue surgery for pregnant patients.Therefore,the clinical application of Nd:YAG water mist laser for the treatment of gestational gingival tumors is an ideal choice.展开更多
Objective:To investigate the contribution of N-terminal pro B-type natriuretic peptide(NT-pro BNP)and troponin I to mortality in children with dengue shock syndrome.Methods:A longitudinal study was conducted on childr...Objective:To investigate the contribution of N-terminal pro B-type natriuretic peptide(NT-pro BNP)and troponin I to mortality in children with dengue shock syndrome.Methods:A longitudinal study was conducted on children with dengue shock syndrome in a hospital in southern Vietnam.Detailed clinical histories,physical examinations,and laboratory parameters,including NT-pro BNP and troponin I,were recorded.A comparison between survival and non-survival was carried out to identify factors influencing mortality.Results:A total of 107 patients with a median age of 9 years were included in the study.Among them,63.6%(68/107)presented with compensated shock,36.4%(39/107)had hypotensive shock,23.4%(25/107)required mechanical ventilation,and 12.1%(13/107)died.The NT-pro BNP levels were 3.9 pmol/L(IQR:1.9,10.3)and 15.2 pmol/L(5.8,46.3),while the median high sensitivity troponin I levels were 20 pg/L(6,95)and 62 pg/L(12,325)at the first and second measurements,respectively.The mortality group exhibited higher rates of hypotensive shock,prolonged shock,lactate levels,liver damage,NT-pro BNP,and troponin I levels.Hypotensive shock(OR 12.96,95%CI 2.70-62.30,P=0.004),prolonged shock(OR 39.40,95%CI 6.68-232.70,P<0.001),AST>1000 IU/L(OR 9.50,95%CI 2.63-34.34,P=0.041),and NT-pro BNP>7 pmol/L(OR 44.40,95%CI 5.44-362.20,P=0.001)were identified as predictive factors for mortality in dengue shock syndrome.Conclusions:The NT-pro BNP level could serve as a potential biomarker for predicting mortality in children with dengue shock syndrome.展开更多
The receptor for activated C kinase 1(RACK1)is a protein that plays a crucial role in various signaling pathways and is involved in the pathogenesis of Alzheimer's disease(AD),a prevalent neurodegenerative disease...The receptor for activated C kinase 1(RACK1)is a protein that plays a crucial role in various signaling pathways and is involved in the pathogenesis of Alzheimer's disease(AD),a prevalent neurodegenerative disease.RACK1 is highly expressed in neuronal cells of the central nervous system and regulates the pathogenesis of AD.Specifically,RACK1 is involved in regulation of the amyloid-β precursor protein processing through α-or β-secretase by binding to different protein kinase C isoforms.Additionally,RACK1 promotes synaptogenesis and synaptic plasticity by inhibiting N-methyl-D-aspartate receptors and activating gamma-aminobutyric acid A receptors,thereby preventing neuronal excitotoxicity.RACK1 also assembles inflammasomes that are involved in various neuroinflammatory pathways,such as nuclear factor-kappa B,tumor necrosis factor-alpha,and NOD-like receptor family pyrin domain-containing 3 pathways.The potential to design therapeutics that block amyloid-β accumulation and inflammation or precisely regulate synaptic plasticity represents an attractive therapeutic strategy,in which RACK1 is a potential target.In this review,we summarize the contribution of RACK1 to the pathogenesis of AD and its potential as a therapeutic target.展开更多
BACKGROUND Individuals with diabetes mellitus are more likely to experience depression,although most patients remain undiagnosed.The relation between total bilirubin and depression has been increasingly discussed,but ...BACKGROUND Individuals with diabetes mellitus are more likely to experience depression,although most patients remain undiagnosed.The relation between total bilirubin and depression has been increasingly discussed,but limited studies have examined the association of total bilirubin with depression risk in adults with diabetes,which warrants attention.AIM To investigate the association between total bilirubin levels and the risk of depression in adults with diabetes.METHODS The study included adults with diabetes from the National Health and Nutrition Examination Survey 2007-2018.Depression was determined using the Patient Health Questionnaire-9.Multivariable logistic regression,propensity scorematched analysis and restricted cubic spline models were utilized to investigate the association between total bilirubin levels and depression risk in adults with diabetes.RESULTS The study included 4758 adults with diabetes,of whom 602(12.7%)were diagnosed with depression.After adjusting for covariates,we found that diabetic adults with lower total bilirubin levels had a higher risk of depression(OR=1.230,95%CI:1.006-1.503,P=0.043).This association was further confirmed after propensity score matching(OR=1.303,95%CI:1.034-1.641,P=0.025).Subgroup analyses showed no significant dependence of age,body mass index,sex,race or hypertension on this association.Restricted cubic spline models displayed an inverted U-shaped association of total bilirubin levels with depression risk within the lower range of total bilirubin levels.The depression risk heightened with the increasing levels of total bilirubin,reaching the highest risk at 6.81μmol/L and decreasing thereafter.CONCLUSION In adults with diabetes,those with lower levels of total bilirubin were more likely to have depressive symptoms.Serum total bilirubin levels may be used as an additional indicator to assess depression risk in adults with diabetes.展开更多
BACKGROUND Epithelioid trophoblastic tumor(ETT)is an extremely rare malignant gestational trophoblastic neoplasm commonly presenting with abnormal vaginal bleeding,abdominal pain,and increased human chorionic gonadotr...BACKGROUND Epithelioid trophoblastic tumor(ETT)is an extremely rare malignant gestational trophoblastic neoplasm commonly presenting with abnormal vaginal bleeding,abdominal pain,and increased human chorionic gonadotropin(hCG).This study reported a case of uterine ETT with the main manifestation being increased hCG.CASE SUMMARY A 39-year-old female was referred to the Ningbo Maternal and Child Hospital of China in December 2022,complaining of increased hCG levels for 1 month.Magnetic resonance imaging revealed gestational trophoblastic tumor,and hysteroscopic electrotomy and curettage of intrauterine hyperplasia were performed.The patient was diagnosed with uterine ETT through postoperative pathological examination and immunohistochemical results.Total laparoscopic hysterectomy and bilateral salpingectomy were performed,and hCG levels returned to normal.The patient was without recurrence during the postoperative 3-month follow-up.CONCLUSION This study reported a case of uterine ETT with the main manifestation being increased hCG,highlighting that ETT should be considered in the presence of abnormal hCG.A total laparoscopic hysterectomy is recommended.展开更多
Objective:To explore which pattern recognition receptors(PRRs)play a key role in the development of hand,foot,and mouth disease(HFMD)by analyzing PRR-associated genes.Methods:We conducted a comparative analysis of PRR...Objective:To explore which pattern recognition receptors(PRRs)play a key role in the development of hand,foot,and mouth disease(HFMD)by analyzing PRR-associated genes.Methods:We conducted a comparative analysis of PRR-associated gene expression in human peripheral blood mononuclear cells(PBMCs)infected with enterovirus 71(EV-A71)which were derived from patients with HFMD of different severities and at different stages.A total of 30 PRR-associated genes were identified as significantly upregulated both over time and across different EV-A71 isolates.Subsequently,ELISA was employed to quantify the expression of the six most prominent genes among these 30 identified genes,specifically,BST2,IRF7,IFI16,TRIM21,MX1,and DDX58.Results:Compared with those at the recovery stage,the expression levels of BST2(P=0.027),IFI16(P=0.016),MX1(P=0.046)and DDX58(P=0.008)in the acute stage of infection were significantly upregulated,while no significant difference in the expression levels of IRF7(P=0.495)and TRIM21(P=0.071)was found between different stages of the disease.The expression levels of BST2,IRF7,IFI16 and MX1 were significantly higher in children infected with single pathogen than those infected with mixed pathogens,and BST2,IRF7,IFI16 and MX1 expression levels were significantly lower in coxsackie B virus(COXB)positive patients than the negative patients.Expression levels of one or more of BST2,IRF7,IFI16,TRIM21,MX1 and DDX58 genes were correlated with PCT levels,various white blood cell counts,and serum antibody levels that reflect disease course of HFMD.Aspartate aminotransferase was correlated with BST2,MX1 and DDX58 expression levels.Conclusions:PRR-associated genes likely initiate the immune response in patients at the acute stage of HFMD.展开更多
BACKGROUND Pulmonary alveolar proteinosis(PAP)and X-linked agammaglobulinemia(XLA)are rare diseases in children.Many theories infer that immunodeficiency can induce PAP,but these reports are almost all review articles...BACKGROUND Pulmonary alveolar proteinosis(PAP)and X-linked agammaglobulinemia(XLA)are rare diseases in children.Many theories infer that immunodeficiency can induce PAP,but these reports are almost all review articles,and there is little clinical evidence.We report the case of a child with both PAP and XLA.CASE SUMMARY A 4-month-old boy sought medical treatment due to coughing and difficulty in breathing for>2 wk.He had been hospitalized multiple times due to respiratory infections and diarrhea.Chest computed tomography and alveolar lavage fluid showed typical PAP-related manifestations.Genetic testing confirmed that the boy also had XLA.Following total lung alveolar lavage and intravenous immunoglobulin replacement therapy,the boy recovered and was discharged.During the follow-up period,the number of respiratory infections was significantly reduced,and PAP did not recur.CONCLUSION XLA can induce PAP and improving immune function contributes to the prognosis of children with this type of PAP.展开更多
Objective Both sequential embryo transfer(SeET)and double-blastocyst transfer(DBT)can serve as embryo transfer strategies for women with recurrent implantation failure(RIF).This study aims to compare the effects of Se...Objective Both sequential embryo transfer(SeET)and double-blastocyst transfer(DBT)can serve as embryo transfer strategies for women with recurrent implantation failure(RIF).This study aims to compare the effects of SeET and DBT on pregnancy outcomes.Methods Totally,261 frozen-thawed embryo transfer cycles of 243 RIF women were included in this multicenter retrospective analysis.According to different embryo quality and transfer strategies,they were divided into four groups:group A,good-quality SeET(GQ-SeET,n=38 cycles);group B,poor-quality or mixed-quality SeET(PQ/MQ-SeET,n=31 cycles);group C,good-quality DBT(GQ-DBT,n=121 cycles);and group D,poor-quality or mixed-quality DBT(PQ/MQ-DBT,n=71 cycles).The main outcome,clinical pregnancy rate,was compared,and the generalized estimating equation(GEE)model was used to correct potential confounders that might impact pregnancy outcomes.Results GQ-DBT achieved a significantly higher clinical pregnancy rate(aOR 2.588,95%CI 1.267–5.284,P=0.009)and live birth rate(aOR 3.082,95%CI 1.482–6.412,P=0.003)than PQ/MQ-DBT.Similarly,the clinical pregnancy rate was significantly higher in GQ-SeET than in PQ/MQ-SeET(aOR 4.047,95%CI 1.218–13.450,P=0.023).The pregnancy outcomes of GQ-SeET were not significantly different from those of GQ-DBT,and the same results were found between PQ/MQ-SeET and PQ/MQ-DBT.Conclusion SeET relative to DBT did not seem to improve pregnancy outcomes for RIF patients if the embryo quality was comparable between the two groups.Better clinical pregnancy outcomes could be obtained by transferring good-quality embryos,no matter whether in SeET or DBT.Embryo quality plays a more important role in pregnancy outcomes for RIF patients.展开更多
BACKGROUND Lung cancer(LC)is the leading cause of malignancy-related deaths worldwide.The most common sites of metastasis include the nervous system,bone,liver,respiratory system,and adrenal glands.LC metastasis in th...BACKGROUND Lung cancer(LC)is the leading cause of malignancy-related deaths worldwide.The most common sites of metastasis include the nervous system,bone,liver,respiratory system,and adrenal glands.LC metastasis in the parotid gland is very rare,and its diagnosis presents a challenge.Here,we report a case of parotid metastasis in primary LC.CASE SUMMARY The patient was a 74-year-old male who was discovered to have bilateral facial asymmetry inadvertently two years ago.The right earlobe was slightly swollen and without pain or numbness.Computed tomography(CT)examination showed bilateral lung space-occupying lesions.Pulmonary biopsy was performed and revealed adenocarcinoma(right-upper-lung nodule tissue).Positron emission tomography-CT examination showed:(1)Two hypermetabolic nodules in the right upper lobe of the lung,enlarged hy-permetabolic lymph nodes in the right hilar and mediastinum,and malignant space-occupying lesion in the right upper lobe of the lung and possible metastasis to the right hilar and mediastinal lymph nodes;and(2)multiple hypermetabolic nodules in bilateral parotid glands.Parotid puncture biopsy was performed considering lung adenocarcinoma metastasis.Gene detection of lung biopsy specimens revealed an EGFR gene 21 exon L858R mutation.CONCLUSION This case report highlights the challenging diagnosis of parotid metastasis in LC given its rare nature.Such lesions should be differentiated from primary tumors of the parotid gland.Simple radiological imaging is unreliable,and puncture biopsy is needed for final diagnosis of this condition.展开更多
BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 gene.In this case,a heterozygous mutation in exon5 of the ...BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 gene.In this case,a heterozygous mutation in exon5 of the LAMA2 gene,c.715C>G(resulting in a change of nucleotide number 715 in the coding region from cytosine to gua-nine),induced an amino acid alteration p.R239G(No.239)in the patient,repre-senting a missense mutation.This observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously reported.CASE SUMMARY We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive treatment.The chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 d.Ad-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited improvement.Whole exo-me sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical phenotype.However,the available informa-tion offers insufficient evidence for clinical pathogenicity.CONCLUSION Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment exists.Whole genome sequen-cing facilitates early diagnosis.展开更多
BACKGROUND The research findings suggest that the prognosis of children with Wilms tumor(WT)is affected by various factors.Some scholars have indicated that loss of heterozygosity(LOH)on chromosome 16q is associated w...BACKGROUND The research findings suggest that the prognosis of children with Wilms tumor(WT)is affected by various factors.Some scholars have indicated that loss of heterozygosity(LOH)on chromosome 16q is associated with a poor prognosis in patients with WT.AIM To further elucidate this relationship,we conducted a meta-analysis.METHODS This meta-analysis was registered in INPLASY(INPLASY2023100060).We systematically searched databases including Embase,PubMed,Web of Science,Cochrane,and Google Scholar up to May 31,2020,for randomized trials reporting any intrapartum fetal surveillance approach.The meta-analysis was performed within a frequentist framework,and the quality and network inconsistency of trials were assessed.Odds ratios and 95%CIs were calculated to report the relationship between event-free survival and 16q LOH in patients with WT.RESULTS Eleven cohort studies were included in this meta-analysis to estimate the relationship between event-free survival and 16q LOH in patients with WT(I^(2)=25%,P<0.001).As expected,16q LOH can serve as an effective predictor of eventfree survival in patients with WT(risk ratio=1.95,95%CI:1.52–2.49,P<0.001).CONCLUSION In pediatric patients with WT,there exists a partial correlation between 16q LOH and an unfavorable treatment prognosis.Clinical detection of 16q chromosome LOH warrants increased attention to the patient’s prognosis.展开更多
Adenine nucleotide translocator(ANT)is a mitochondrial protein involved in the exchange of ADP and ATP across the mitochondrial inner membrane.It plays a crucial role in cellular energy metabolism by facilitating the ...Adenine nucleotide translocator(ANT)is a mitochondrial protein involved in the exchange of ADP and ATP across the mitochondrial inner membrane.It plays a crucial role in cellular energy metabolism by facilitating the transport of ATP synthesized within the mitochondria to the cytoplasm.The isoform ANT1 predominately expresses in cardiac and skeletal muscles.Mutations or dysregulation in ANT1 have been implicated in various mitochondrial disorders and neuromuscular diseases.We aimed to examine whether ANT1 deletion may affect mitochondrial redox state in our established ANT1-de-cient mice.Hearts and quadriceps resected from age-matched wild type(WT)and ANT1-de-cient mice were snap-frozen in liquid nitrogen.The Chance redox scanner was utilized to perform 3D optical redox imaging.Each sample underwent scanning across 3–5 sections.Global averaging analysis showed no signi-cant differences in the redox indices(NADH,flavin adenine dinucleotide containing-flavoproteins Fp,and the redox ratio Fp/(NADH+Fp)between WT and ANT1-de-cient groups.However,quadriceps had higher Fp than hearts in both groups(p¼0:0004 and 0.01,respectively).Furthermore,the quadriceps were also more oxidized(a higher redox ratio)than hearts in WT group(p¼0:004).NADH levels were similar in all cases.Our data suggest that under non-stressful physical condition,the ANT1-de-cient muscle cells were in the same mitochondrial state as WT ones and that the signi-cant difference in the mitochondrial redox state between quadriceps and hearts found in WT might be diminished in ANT1-de-cient ones.Redox imaging of muscles under physical stress can be conducted in future.展开更多
This editorial presents an analysis of an article recently published in the World Journal of Clinical Cases.Kawasaki disease(KD)is a well-known pediatric vasculitis characterized by fever,rash,conjunctivitis,oral muco...This editorial presents an analysis of an article recently published in the World Journal of Clinical Cases.Kawasaki disease(KD)is a well-known pediatric vasculitis characterized by fever,rash,conjunctivitis,oral mucosal changes,and swelling of the extremities.This editorial aims to delve into the intricate relationship between KD and abdominal pain,drawing insights from recent research findings to provide a comprehensive understanding and potential avenues for future investigation.展开更多
Objective: Genome-wide association studies have demonstrated that single nucleotide polymorphisms (SNPs) are important risk factors for the development of prostate cancer (PCa). Preliminary studies have suggested that...Objective: Genome-wide association studies have demonstrated that single nucleotide polymorphisms (SNPs) are important risk factors for the development of prostate cancer (PCa). Preliminary studies have suggested that the incidence of PCa in Saudi males is low but is probably familial or genetically related.Methods: To identify any possible association of SNP with PCa development in Saudi patients, we investigated a group of SNPs in Saudi PCa patients (n=85) and compared the outcomes to healthy normal controls (n=115) and nodular hyperplasia patients (n=120). DNA was extracted from paraffin-embedded formalin fixed tissue or whole blood from both patients’ groups and healthy control group. A total of thirteen SNPs were genotyped using TaqMan® minor groove binder polymerase chain reaction assay.Results: The rs16901979A, s629242T and rs1447295A alleles were found at significantly higher frequency in PCa patients than controls (p< 0.05). The rs16901979 CA genotype was found at significantly greater frequency in PCa patients than in healthy controls (43% vs. 14%, odds ratio=4.6, p=0.0001) and benign hyperplasia group (43% vs. 25%, odds ratio=2.2, p=0.009).Conclusion: Our study has highlighted the association of rs16901979 SNP with PCa in Saudi males. Such findings have important implications in the PCa diagnosis and in screening unaffected family members of Saudi patients.展开更多
BACKGROUND Meniscal sparing surgery is a widely utilised treatment option for unstable meniscal tears with the aim of minimising the risk of progression towards osteoarthritis.However,there is limited data in the lite...BACKGROUND Meniscal sparing surgery is a widely utilised treatment option for unstable meniscal tears with the aim of minimising the risk of progression towards osteoarthritis.However,there is limited data in the literature on meniscal repair outcomes in skeletally immature patients.AIM To evaluate the re-operation rate and functional outcomes of meniscal repairs in children and adolescents.METHODS We performed a retrospective review of all patients who underwent arthroscopic meniscal repair surgery between January 2007 and January 2018.All patients were under the age of 18 at the time of surgery.Procedures were all performed by a single surgeon.Information was gathered from our hospital Electronic Patient Records system.The primary outcome measure was re-operation rate(need for further surgery on the same meniscus).Secondary outcome measures were surgical complications and patient reported outcome measures that were International Knee Documentation Committee(IKDC),Tegner and Lysholm scores.RESULTS We identified 59 patients who underwent 66 All-inside meniscal repairs(32 medial meniscus and 34 Lateral meniscus).Meniscal repairs were performed utilizing FasT-Fix(Smith and Nephew)implants.There were 37 males and 22 females with an average age of 14 years(range 6-16).The average follow-up time was 53 months(range 26-140).Six patients had concomitant anterior cruciate ligament reconstruction surgery along with the meniscal repair.There were no requiring further meniscal repairs and 9 patients underwent partial meniscectomies.The mean postoperative IKDC score was 88(44-100),Tegner score was 7(2-10)and Lysholm score was 94(57-100).CONCLUSION Our results showed that arthroscopic repair of meniscal tears in the paediatric population is an effective treatment option that has a low failure rate and good postoperative clinical with the advantage of preserving meniscal tissues.展开更多
The rodent running-wheel recording apparatus is a reliable approach for studying cir-cadian rhythm.This study demonstrated how to construct a simple and intelligent running-wheel recording system.The running wheel was...The rodent running-wheel recording apparatus is a reliable approach for studying cir-cadian rhythm.This study demonstrated how to construct a simple and intelligent running-wheel recording system.The running wheel was attached to the cage's base,whereas the Hall sensor was attached to the cage's cover.Then,the RJ25 adaptor relayed the running signal to the main control board.Finally,the main control board was connected to the USB port of the computer with the USB connection.Data were collected using the online-accessible,self-created software Magturning.Through Magturning,generated data were saved and exported in real time.Afterward,the device was validated by collecting data on the locomotor activities of mice under dif-ferent light conditions.In conclusion,this new device can record circadian activity of rodents.Our device is appropriate for interdisciplinary investigations related to biological clock research.展开更多
BACKGROUND Nonalcoholic fatty liver disease(NAFLD)is one of the most common chronic liver diseases in children and adolescents.NAFLD ranges in severity from isolated hepatic steatosis to nonalcoholic steatohepatitis(N...BACKGROUND Nonalcoholic fatty liver disease(NAFLD)is one of the most common chronic liver diseases in children and adolescents.NAFLD ranges in severity from isolated hepatic steatosis to nonalcoholic steatohepatitis(NASH),wherein hepatocellular inflammation and/or fibrosis coexist with steatosis.Circulating microRNA(miRNA)levels have been suggested to be altered in NAFLD,but the extent to which miRNA are related to NAFLD features remains unknown.This analysis tested the hypothesis that plasma miRNAs are significantly associated with histological features of NAFLD in adolescents.AIM To investigate the relationship between plasma miRNA expression and NAFLD features among adolescents with NAFLD.METHODS This study included 81 adolescents diagnosed with NAFLD and 54 adolescents without NAFLD from the Teen-Longitudinal Assessment of Bariatric Surgery study.Intra-operative core liver biopsies were collected from participants and used to characterize histological features of NAFLD.Plasma samples were collected during surgery for miRNA profiling.A total of 843 plasma miRNAs were profiled using the HTG EdgeSeq platform.We examined associations of plasma miRNAs and NAFLD features using logistic regression after adjusting for age,sex,race,and other key covariates.Ingenuity Pathways Analysis was used to identify biological functions of miRNAs that were associated with multiple histological features of NAFLD.RESULTS We identified 16 upregulated plasma miRNAs,including miR-193a-5p and miR-193b-5p,and 22 downregulated plasma miRNAs,including miR-1282 and miR-6734-5p,in adolescents with NAFLD.Moreover,52,16,15,and 9 plasma miRNAs were associated with NASH,fibrosis,ballooning degeneration,and lobular inflammation,respectively.Collectively,16 miRNAs were associated with two or more histological features of NAFLD.Among those miRNAs,miR-411-5p was downregulated in NASH,ballooning,and fibrosis,while miR-122-5p,miR-1343-5p,miR-193a-5p,miR-193b-5p,and miR-7845-5p were consistently and positively associated with all histological features of NAFLD.Pathway analysis revealed that most common pathways of miRNAs associated with multiple NAFLD features have been associated with tumor progression,while we also identified linkages between miR-122-5p and hepatitis C virus and between miR-199b-5p and chronic hepatitis B.CONCLUSION Plasma miRNAs were associated with NAFLD features in adolescent with severe obesity.Larger studies with more heterogeneous NAFLD phenotypes are needed to evaluate miRNAs as potential biomarkers of NAFLD.展开更多
基金grants from the National Key Research and Development Program(2016YFD0500401)a clinical technological innovation project supervised by the Beijing Hospital Authority(XMLX201401)+3 种基金a Development Grant of the State Key Laboratory of Infectious Disease Prevention and Control(2015SKLID505,2014SKLID03)Ministry of Science and Technology of the People’s Republic of China(No.2013ZX10004202,No.2013ZX10004101,No.2012ZX10004215)the National Natural Science Foundation of China(81290342 and 81501757)the Special National Project on Research and Development of Key Biosafety Technologies(2016YFC1201900)
文摘Fifteen pediatric cases of suspected Japanese encephalitis (JE) were reported in Beijing Children's Hospital during the late summer of 2013. The clinical manifestations in most cases included high fever, seizures, and abnormal magnetic resonance imaging findings. Twelve of 15 cases were laboratory-confirmed as JE cases by pathogen identification. Epidemiological investigations showed that five of the 12 laboratory-confirmed patients had an incomplete JE vaccination history. Follow-up investigations after discharge indicated that seven laboratory-confirmed JE patients without JE vaccinations had relatively poor prognoses, with an average Modified Rankin Scale (MRS) score of 2.6 when compared with the other five laboratory-confirmed, JE-vaccinated patients with an average MRS score of 0.5. The observation of pediatric JE cases among those with a history of JE vaccination warrants further attention.
基金supported in parts by the National Natural Science Foundation of China,Nos.82101501(to QF),and 82201589(to XH)。
文摘Proteolytic cleavage of tau by asparagine endopeptidase(AEP)creates tau-N368 fragments,which may drive the pathophysiology associated with synaptic dysfunction and memory deterioration in the brain of Alzheimer’s disease patients.Nonetheless,the molecular mechanisms of truncated tau-induced cognitive deficits remain unclear.Evidence suggests that signal transduction and activator of transcription-3(STAT3)is associated with modulating synaptic plasticity,cell apoptosis,and cognitive function.Using luciferase reporter assays,electrophoretic mobility shift assays,western blotting,and immunofluorescence,we found that human tau-N368 accumulation inhibited STAT3 activity by suppressing STAT3 translocation into the nucleus.Overexpression of STAT3 improved tau-N368-induced synaptic deficits and reduced neuronal loss,thereby improving the cognitive deficits in tau-N368 mice.Moreover,in tau-N368 mice,activation of STAT3 increased N-methyl-D-aspartic acid receptor levels,decreased Bcl-2 levels,reversed synaptic damage and neuronal loss,and thereby alleviated cognitive deficits caused by tau-N368.Taken together,STAT3 plays a critical role in truncated tau-related neuropathological changes.This indicates a new mechanism behind the effect of tau-N368 on synapses and memory deficits.STAT3 can be used as a new molecular target to treat tau-N368-induced protein pathology.
基金Natural Science Foundation of Xiamen,No.3502Z202373120and National Key R&D Program of China,No.2022YFF0606301.
文摘BACKGROUND Umbilical artery thrombosis(UAT)is extremely uncommon and leads to adverse perinatal outcomes.Hypercoagulation of blood in pregnant women is suspected to be an important risk for UAT.Ultrasound is an effective way to detect thrombosis.The mother can monitor her own fetal health using ultrasound,which enables her to take preventative action in case of emergency.AIM To investigate ultrasonic blood signal after UAT in the umbilical artery,and evaluate the relationship between hypercoagulability and UAT.METHODS We described a case of a newly formed UAT with markedly altered ultrasonic indices of umbilical artery blood flow,and retrospectively studied it with 18 UAT patients confirmed by histopathology from October 2019 and March 2023 in Xiamen Women and Children's Hospital.Patients’information was collected from medical archives,including maternal clinical data,neonatal outcomes,pathological findings and ultrasonic indices of umbilical artery blood flow,such as systolic-diastolic duration ratio(S/D),resistance index(RI),pulsatility index(PI)and peak systolic velocity(PSV).Ultrasound and coagulation indices were analyzed with matched samples t-test and Wilcoxon rank sum test using the statistical packages in R(version 4.2.1)including car(version 3.1-0)and stats(version 4.2.1),and visualized by ggplot2 package(version 3.3.6).RESULTS A patient with normal findings in second and third-trimester routine ultrasound scan developed UAT with severe changes in ultrasonic indices of umbilical artery blood flow(within 2.5th of reference ranges)in a short period of time.Statistical analysis of umbilical artery blood flow ultrasound indices for 19 patients with UAT showed that the decrease in S/D,RI,and PI and increase of PSV during the disease process was greater than that of non-UAT.All 18 patients delivered in our hospital showed characteristic manifestations of UAT on histological examination after delivery,most of which(16/18)showed umbilical cord abnormalities,with 15 umbilical cord torsion and 1 pseudoknot.Coagulation parameters were not significantly changed in UAT patients compared with normal pregnancy women.CONCLUSION Significant changes in ultrasound indicators after UAT were demonstrated.PSV can play important roles in the diagnosis of UAT.Hypercoagulability alone is not sufficient for the occurrence of UAT.
文摘BACKGROUND This case of gestational gingival tumor is huge and extremely rare in clinical practice.As the growth location of this gingival tumor is in the upper anterior tooth area,it seriously affects the pregnant woman's speech and food,causing great pain to the patient.The use of Nd:YGA water mist laser to remove the gingival tumor resulted in minimal intraoperative bleeding,minimal adverse reactions,and good postoperative healing,which is worthy of clinical promotion and application.CASE SUMMARY The patient,a pregnant woman,reported a large lump in her mouth on the first day of postpartum treatment.Based on medical history and clinical examination,the diagnosis was diagnosed as gestational gingival tumor.Postoperative pathological biopsy also confirmed this diagnosis.The use of Nd:YAG water mist laser to remove the tumor resulted in minimal intraoperative bleeding,clear surgical field of view,short surgical time,and good postoperative healing.CONCLUSION In comparison to traditional surgery,Nd:YAG water mist laser surgery is minimally invasive,minimizes cell damage,reduces bleeding,ensures a clear field of vision,and virtually eliminates postoperative edema,carbonization,and the risk of cross infection.It has unique advantages in oral soft tissue surgery for pregnant patients.Therefore,the clinical application of Nd:YAG water mist laser for the treatment of gestational gingival tumors is an ideal choice.
文摘Objective:To investigate the contribution of N-terminal pro B-type natriuretic peptide(NT-pro BNP)and troponin I to mortality in children with dengue shock syndrome.Methods:A longitudinal study was conducted on children with dengue shock syndrome in a hospital in southern Vietnam.Detailed clinical histories,physical examinations,and laboratory parameters,including NT-pro BNP and troponin I,were recorded.A comparison between survival and non-survival was carried out to identify factors influencing mortality.Results:A total of 107 patients with a median age of 9 years were included in the study.Among them,63.6%(68/107)presented with compensated shock,36.4%(39/107)had hypotensive shock,23.4%(25/107)required mechanical ventilation,and 12.1%(13/107)died.The NT-pro BNP levels were 3.9 pmol/L(IQR:1.9,10.3)and 15.2 pmol/L(5.8,46.3),while the median high sensitivity troponin I levels were 20 pg/L(6,95)and 62 pg/L(12,325)at the first and second measurements,respectively.The mortality group exhibited higher rates of hypotensive shock,prolonged shock,lactate levels,liver damage,NT-pro BNP,and troponin I levels.Hypotensive shock(OR 12.96,95%CI 2.70-62.30,P=0.004),prolonged shock(OR 39.40,95%CI 6.68-232.70,P<0.001),AST>1000 IU/L(OR 9.50,95%CI 2.63-34.34,P=0.041),and NT-pro BNP>7 pmol/L(OR 44.40,95%CI 5.44-362.20,P=0.001)were identified as predictive factors for mortality in dengue shock syndrome.Conclusions:The NT-pro BNP level could serve as a potential biomarker for predicting mortality in children with dengue shock syndrome.
基金supported by grants from the National Natural Science Foundation of China(Grant No.82071395)the Natural Science Foundation of Chongqing(Grant Nos.cstc2021ycjh-bgzxm0186,cstc2020jcyj-zdxmX0004,and cstc2021jcyj-bsh0023)the CQMU Program for Youth Innovation in Future Medicine(Grant No.W0044).
文摘The receptor for activated C kinase 1(RACK1)is a protein that plays a crucial role in various signaling pathways and is involved in the pathogenesis of Alzheimer's disease(AD),a prevalent neurodegenerative disease.RACK1 is highly expressed in neuronal cells of the central nervous system and regulates the pathogenesis of AD.Specifically,RACK1 is involved in regulation of the amyloid-β precursor protein processing through α-or β-secretase by binding to different protein kinase C isoforms.Additionally,RACK1 promotes synaptogenesis and synaptic plasticity by inhibiting N-methyl-D-aspartate receptors and activating gamma-aminobutyric acid A receptors,thereby preventing neuronal excitotoxicity.RACK1 also assembles inflammasomes that are involved in various neuroinflammatory pathways,such as nuclear factor-kappa B,tumor necrosis factor-alpha,and NOD-like receptor family pyrin domain-containing 3 pathways.The potential to design therapeutics that block amyloid-β accumulation and inflammation or precisely regulate synaptic plasticity represents an attractive therapeutic strategy,in which RACK1 is a potential target.In this review,we summarize the contribution of RACK1 to the pathogenesis of AD and its potential as a therapeutic target.
文摘BACKGROUND Individuals with diabetes mellitus are more likely to experience depression,although most patients remain undiagnosed.The relation between total bilirubin and depression has been increasingly discussed,but limited studies have examined the association of total bilirubin with depression risk in adults with diabetes,which warrants attention.AIM To investigate the association between total bilirubin levels and the risk of depression in adults with diabetes.METHODS The study included adults with diabetes from the National Health and Nutrition Examination Survey 2007-2018.Depression was determined using the Patient Health Questionnaire-9.Multivariable logistic regression,propensity scorematched analysis and restricted cubic spline models were utilized to investigate the association between total bilirubin levels and depression risk in adults with diabetes.RESULTS The study included 4758 adults with diabetes,of whom 602(12.7%)were diagnosed with depression.After adjusting for covariates,we found that diabetic adults with lower total bilirubin levels had a higher risk of depression(OR=1.230,95%CI:1.006-1.503,P=0.043).This association was further confirmed after propensity score matching(OR=1.303,95%CI:1.034-1.641,P=0.025).Subgroup analyses showed no significant dependence of age,body mass index,sex,race or hypertension on this association.Restricted cubic spline models displayed an inverted U-shaped association of total bilirubin levels with depression risk within the lower range of total bilirubin levels.The depression risk heightened with the increasing levels of total bilirubin,reaching the highest risk at 6.81μmol/L and decreasing thereafter.CONCLUSION In adults with diabetes,those with lower levels of total bilirubin were more likely to have depressive symptoms.Serum total bilirubin levels may be used as an additional indicator to assess depression risk in adults with diabetes.
文摘BACKGROUND Epithelioid trophoblastic tumor(ETT)is an extremely rare malignant gestational trophoblastic neoplasm commonly presenting with abnormal vaginal bleeding,abdominal pain,and increased human chorionic gonadotropin(hCG).This study reported a case of uterine ETT with the main manifestation being increased hCG.CASE SUMMARY A 39-year-old female was referred to the Ningbo Maternal and Child Hospital of China in December 2022,complaining of increased hCG levels for 1 month.Magnetic resonance imaging revealed gestational trophoblastic tumor,and hysteroscopic electrotomy and curettage of intrauterine hyperplasia were performed.The patient was diagnosed with uterine ETT through postoperative pathological examination and immunohistochemical results.Total laparoscopic hysterectomy and bilateral salpingectomy were performed,and hCG levels returned to normal.The patient was without recurrence during the postoperative 3-month follow-up.CONCLUSION This study reported a case of uterine ETT with the main manifestation being increased hCG,highlighting that ETT should be considered in the presence of abnormal hCG.A total laparoscopic hysterectomy is recommended.
文摘Objective:To explore which pattern recognition receptors(PRRs)play a key role in the development of hand,foot,and mouth disease(HFMD)by analyzing PRR-associated genes.Methods:We conducted a comparative analysis of PRR-associated gene expression in human peripheral blood mononuclear cells(PBMCs)infected with enterovirus 71(EV-A71)which were derived from patients with HFMD of different severities and at different stages.A total of 30 PRR-associated genes were identified as significantly upregulated both over time and across different EV-A71 isolates.Subsequently,ELISA was employed to quantify the expression of the six most prominent genes among these 30 identified genes,specifically,BST2,IRF7,IFI16,TRIM21,MX1,and DDX58.Results:Compared with those at the recovery stage,the expression levels of BST2(P=0.027),IFI16(P=0.016),MX1(P=0.046)and DDX58(P=0.008)in the acute stage of infection were significantly upregulated,while no significant difference in the expression levels of IRF7(P=0.495)and TRIM21(P=0.071)was found between different stages of the disease.The expression levels of BST2,IRF7,IFI16 and MX1 were significantly higher in children infected with single pathogen than those infected with mixed pathogens,and BST2,IRF7,IFI16 and MX1 expression levels were significantly lower in coxsackie B virus(COXB)positive patients than the negative patients.Expression levels of one or more of BST2,IRF7,IFI16,TRIM21,MX1 and DDX58 genes were correlated with PCT levels,various white blood cell counts,and serum antibody levels that reflect disease course of HFMD.Aspartate aminotransferase was correlated with BST2,MX1 and DDX58 expression levels.Conclusions:PRR-associated genes likely initiate the immune response in patients at the acute stage of HFMD.
基金Supported by Sanitation Research Project of Kunming Municipal Health Commission,No.2020-06-01-119.
文摘BACKGROUND Pulmonary alveolar proteinosis(PAP)and X-linked agammaglobulinemia(XLA)are rare diseases in children.Many theories infer that immunodeficiency can induce PAP,but these reports are almost all review articles,and there is little clinical evidence.We report the case of a child with both PAP and XLA.CASE SUMMARY A 4-month-old boy sought medical treatment due to coughing and difficulty in breathing for>2 wk.He had been hospitalized multiple times due to respiratory infections and diarrhea.Chest computed tomography and alveolar lavage fluid showed typical PAP-related manifestations.Genetic testing confirmed that the boy also had XLA.Following total lung alveolar lavage and intravenous immunoglobulin replacement therapy,the boy recovered and was discharged.During the follow-up period,the number of respiratory infections was significantly reduced,and PAP did not recur.CONCLUSION XLA can induce PAP and improving immune function contributes to the prognosis of children with this type of PAP.
文摘Objective Both sequential embryo transfer(SeET)and double-blastocyst transfer(DBT)can serve as embryo transfer strategies for women with recurrent implantation failure(RIF).This study aims to compare the effects of SeET and DBT on pregnancy outcomes.Methods Totally,261 frozen-thawed embryo transfer cycles of 243 RIF women were included in this multicenter retrospective analysis.According to different embryo quality and transfer strategies,they were divided into four groups:group A,good-quality SeET(GQ-SeET,n=38 cycles);group B,poor-quality or mixed-quality SeET(PQ/MQ-SeET,n=31 cycles);group C,good-quality DBT(GQ-DBT,n=121 cycles);and group D,poor-quality or mixed-quality DBT(PQ/MQ-DBT,n=71 cycles).The main outcome,clinical pregnancy rate,was compared,and the generalized estimating equation(GEE)model was used to correct potential confounders that might impact pregnancy outcomes.Results GQ-DBT achieved a significantly higher clinical pregnancy rate(aOR 2.588,95%CI 1.267–5.284,P=0.009)and live birth rate(aOR 3.082,95%CI 1.482–6.412,P=0.003)than PQ/MQ-DBT.Similarly,the clinical pregnancy rate was significantly higher in GQ-SeET than in PQ/MQ-SeET(aOR 4.047,95%CI 1.218–13.450,P=0.023).The pregnancy outcomes of GQ-SeET were not significantly different from those of GQ-DBT,and the same results were found between PQ/MQ-SeET and PQ/MQ-DBT.Conclusion SeET relative to DBT did not seem to improve pregnancy outcomes for RIF patients if the embryo quality was comparable between the two groups.Better clinical pregnancy outcomes could be obtained by transferring good-quality embryos,no matter whether in SeET or DBT.Embryo quality plays a more important role in pregnancy outcomes for RIF patients.
文摘BACKGROUND Lung cancer(LC)is the leading cause of malignancy-related deaths worldwide.The most common sites of metastasis include the nervous system,bone,liver,respiratory system,and adrenal glands.LC metastasis in the parotid gland is very rare,and its diagnosis presents a challenge.Here,we report a case of parotid metastasis in primary LC.CASE SUMMARY The patient was a 74-year-old male who was discovered to have bilateral facial asymmetry inadvertently two years ago.The right earlobe was slightly swollen and without pain or numbness.Computed tomography(CT)examination showed bilateral lung space-occupying lesions.Pulmonary biopsy was performed and revealed adenocarcinoma(right-upper-lung nodule tissue).Positron emission tomography-CT examination showed:(1)Two hypermetabolic nodules in the right upper lobe of the lung,enlarged hy-permetabolic lymph nodes in the right hilar and mediastinum,and malignant space-occupying lesion in the right upper lobe of the lung and possible metastasis to the right hilar and mediastinal lymph nodes;and(2)multiple hypermetabolic nodules in bilateral parotid glands.Parotid puncture biopsy was performed considering lung adenocarcinoma metastasis.Gene detection of lung biopsy specimens revealed an EGFR gene 21 exon L858R mutation.CONCLUSION This case report highlights the challenging diagnosis of parotid metastasis in LC given its rare nature.Such lesions should be differentiated from primary tumors of the parotid gland.Simple radiological imaging is unreliable,and puncture biopsy is needed for final diagnosis of this condition.
基金Supported by The Suzhou Science and Technology Development Plan Guiding Project,No.SZSYYXH-2023-YB5The Suzhou Science and Technology Development Plan Project,No.SKY2023002The Suzhou Key Laboratory of Children's Structural Deformities,No.SZS2022018.
文摘BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 gene.In this case,a heterozygous mutation in exon5 of the LAMA2 gene,c.715C>G(resulting in a change of nucleotide number 715 in the coding region from cytosine to gua-nine),induced an amino acid alteration p.R239G(No.239)in the patient,repre-senting a missense mutation.This observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously reported.CASE SUMMARY We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive treatment.The chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 d.Ad-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited improvement.Whole exo-me sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical phenotype.However,the available informa-tion offers insufficient evidence for clinical pathogenicity.CONCLUSION Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment exists.Whole genome sequen-cing facilitates early diagnosis.
基金Supported by Yunnan Provincial Department of Science and Technology Provincial Basic Research Program(Kunming Medical Joint Special Project,No.2019FE001(-276)Kunming Health Science and Technology Talents Training Project and"Ten Hundred Thousands"Project Training Plan,No.2020-SW(Backup)-121.
文摘BACKGROUND The research findings suggest that the prognosis of children with Wilms tumor(WT)is affected by various factors.Some scholars have indicated that loss of heterozygosity(LOH)on chromosome 16q is associated with a poor prognosis in patients with WT.AIM To further elucidate this relationship,we conducted a meta-analysis.METHODS This meta-analysis was registered in INPLASY(INPLASY2023100060).We systematically searched databases including Embase,PubMed,Web of Science,Cochrane,and Google Scholar up to May 31,2020,for randomized trials reporting any intrapartum fetal surveillance approach.The meta-analysis was performed within a frequentist framework,and the quality and network inconsistency of trials were assessed.Odds ratios and 95%CIs were calculated to report the relationship between event-free survival and 16q LOH in patients with WT.RESULTS Eleven cohort studies were included in this meta-analysis to estimate the relationship between event-free survival and 16q LOH in patients with WT(I^(2)=25%,P<0.001).As expected,16q LOH can serve as an effective predictor of eventfree survival in patients with WT(risk ratio=1.95,95%CI:1.52–2.49,P<0.001).CONCLUSION In pediatric patients with WT,there exists a partial correlation between 16q LOH and an unfavorable treatment prognosis.Clinical detection of 16q chromosome LOH warrants increased attention to the patient’s prognosis.
基金supported in part by NIH Grant CA191207 and CA277037(L.Z.Li)AG078814 and CA259635(D.Wallace)and DOD Grant W81XWH2210561(D.Wallace).
文摘Adenine nucleotide translocator(ANT)is a mitochondrial protein involved in the exchange of ADP and ATP across the mitochondrial inner membrane.It plays a crucial role in cellular energy metabolism by facilitating the transport of ATP synthesized within the mitochondria to the cytoplasm.The isoform ANT1 predominately expresses in cardiac and skeletal muscles.Mutations or dysregulation in ANT1 have been implicated in various mitochondrial disorders and neuromuscular diseases.We aimed to examine whether ANT1 deletion may affect mitochondrial redox state in our established ANT1-de-cient mice.Hearts and quadriceps resected from age-matched wild type(WT)and ANT1-de-cient mice were snap-frozen in liquid nitrogen.The Chance redox scanner was utilized to perform 3D optical redox imaging.Each sample underwent scanning across 3–5 sections.Global averaging analysis showed no signi-cant differences in the redox indices(NADH,flavin adenine dinucleotide containing-flavoproteins Fp,and the redox ratio Fp/(NADH+Fp)between WT and ANT1-de-cient groups.However,quadriceps had higher Fp than hearts in both groups(p¼0:0004 and 0.01,respectively).Furthermore,the quadriceps were also more oxidized(a higher redox ratio)than hearts in WT group(p¼0:004).NADH levels were similar in all cases.Our data suggest that under non-stressful physical condition,the ANT1-de-cient muscle cells were in the same mitochondrial state as WT ones and that the signi-cant difference in the mitochondrial redox state between quadriceps and hearts found in WT might be diminished in ANT1-de-cient ones.Redox imaging of muscles under physical stress can be conducted in future.
基金Supported by The Hubei Pediatric Alliance Medical Research Project,No.HPAMRP202117。
文摘This editorial presents an analysis of an article recently published in the World Journal of Clinical Cases.Kawasaki disease(KD)is a well-known pediatric vasculitis characterized by fever,rash,conjunctivitis,oral mucosal changes,and swelling of the extremities.This editorial aims to delve into the intricate relationship between KD and abdominal pain,drawing insights from recent research findings to provide a comprehensive understanding and potential avenues for future investigation.
基金supported by King Fahad Medical City,Riyadh,Saudi Arabia(IRF No:017-059).
文摘Objective: Genome-wide association studies have demonstrated that single nucleotide polymorphisms (SNPs) are important risk factors for the development of prostate cancer (PCa). Preliminary studies have suggested that the incidence of PCa in Saudi males is low but is probably familial or genetically related.Methods: To identify any possible association of SNP with PCa development in Saudi patients, we investigated a group of SNPs in Saudi PCa patients (n=85) and compared the outcomes to healthy normal controls (n=115) and nodular hyperplasia patients (n=120). DNA was extracted from paraffin-embedded formalin fixed tissue or whole blood from both patients’ groups and healthy control group. A total of thirteen SNPs were genotyped using TaqMan® minor groove binder polymerase chain reaction assay.Results: The rs16901979A, s629242T and rs1447295A alleles were found at significantly higher frequency in PCa patients than controls (p< 0.05). The rs16901979 CA genotype was found at significantly greater frequency in PCa patients than in healthy controls (43% vs. 14%, odds ratio=4.6, p=0.0001) and benign hyperplasia group (43% vs. 25%, odds ratio=2.2, p=0.009).Conclusion: Our study has highlighted the association of rs16901979 SNP with PCa in Saudi males. Such findings have important implications in the PCa diagnosis and in screening unaffected family members of Saudi patients.
文摘BACKGROUND Meniscal sparing surgery is a widely utilised treatment option for unstable meniscal tears with the aim of minimising the risk of progression towards osteoarthritis.However,there is limited data in the literature on meniscal repair outcomes in skeletally immature patients.AIM To evaluate the re-operation rate and functional outcomes of meniscal repairs in children and adolescents.METHODS We performed a retrospective review of all patients who underwent arthroscopic meniscal repair surgery between January 2007 and January 2018.All patients were under the age of 18 at the time of surgery.Procedures were all performed by a single surgeon.Information was gathered from our hospital Electronic Patient Records system.The primary outcome measure was re-operation rate(need for further surgery on the same meniscus).Secondary outcome measures were surgical complications and patient reported outcome measures that were International Knee Documentation Committee(IKDC),Tegner and Lysholm scores.RESULTS We identified 59 patients who underwent 66 All-inside meniscal repairs(32 medial meniscus and 34 Lateral meniscus).Meniscal repairs were performed utilizing FasT-Fix(Smith and Nephew)implants.There were 37 males and 22 females with an average age of 14 years(range 6-16).The average follow-up time was 53 months(range 26-140).Six patients had concomitant anterior cruciate ligament reconstruction surgery along with the meniscal repair.There were no requiring further meniscal repairs and 9 patients underwent partial meniscectomies.The mean postoperative IKDC score was 88(44-100),Tegner score was 7(2-10)and Lysholm score was 94(57-100).CONCLUSION Our results showed that arthroscopic repair of meniscal tears in the paediatric population is an effective treatment option that has a low failure rate and good postoperative clinical with the advantage of preserving meniscal tissues.
基金Startup Fund for scientific research,Fujian Medical University,Grant/Award Number:2020QH1039Joint Funds for the Innovation of Science and Technology,Fujian Province,Grant/Award Number:2020Y9114 and 2020Y9119。
文摘The rodent running-wheel recording apparatus is a reliable approach for studying cir-cadian rhythm.This study demonstrated how to construct a simple and intelligent running-wheel recording system.The running wheel was attached to the cage's base,whereas the Hall sensor was attached to the cage's cover.Then,the RJ25 adaptor relayed the running signal to the main control board.Finally,the main control board was connected to the USB port of the computer with the USB connection.Data were collected using the online-accessible,self-created software Magturning.Through Magturning,generated data were saved and exported in real time.Afterward,the device was validated by collecting data on the locomotor activities of mice under dif-ferent light conditions.In conclusion,this new device can record circadian activity of rodents.Our device is appropriate for interdisciplinary investigations related to biological clock research.
基金Supported by National Institute of Environmental Health,No.R01ES030691No.R01ES030364,No.R01ES029944,No.U01HG013288,No.T32-ES013678,No.P30ES007048,No.U2CES030859,No.R01ES032831,No.R01ES033688,No.P30ES023515,and No.P2CES033433+8 种基金National Human Genome Research Institute and National Institute of Environmental Health,No.U01HG013288California Environmental Protection Agency,No.20-E0017National Cancer Institute and National Institute of Environmental Health,No.P01CA196569Ministry of Science and Innovation and State Research Agency,No.CEX2018-000806-SEuropean Union(“NextGenerationEU/PRTR”),No.IJC2020-043630-IEuropean Union’s Horizon Europe Research And Innovation Programme Under the Marie Skłodowska-Curie Actions Postdoctoral Fellowships,No.101059245United States Department of Agriculture,No.6250-51000-053National Institutes of Health,No.R01DK128117-01A1The Teen-LABS Consortium:National Institute of Diabetes and Digestive and Kidney Diseases,No.UM1DK072493 and No.UM1DK095710.
文摘BACKGROUND Nonalcoholic fatty liver disease(NAFLD)is one of the most common chronic liver diseases in children and adolescents.NAFLD ranges in severity from isolated hepatic steatosis to nonalcoholic steatohepatitis(NASH),wherein hepatocellular inflammation and/or fibrosis coexist with steatosis.Circulating microRNA(miRNA)levels have been suggested to be altered in NAFLD,but the extent to which miRNA are related to NAFLD features remains unknown.This analysis tested the hypothesis that plasma miRNAs are significantly associated with histological features of NAFLD in adolescents.AIM To investigate the relationship between plasma miRNA expression and NAFLD features among adolescents with NAFLD.METHODS This study included 81 adolescents diagnosed with NAFLD and 54 adolescents without NAFLD from the Teen-Longitudinal Assessment of Bariatric Surgery study.Intra-operative core liver biopsies were collected from participants and used to characterize histological features of NAFLD.Plasma samples were collected during surgery for miRNA profiling.A total of 843 plasma miRNAs were profiled using the HTG EdgeSeq platform.We examined associations of plasma miRNAs and NAFLD features using logistic regression after adjusting for age,sex,race,and other key covariates.Ingenuity Pathways Analysis was used to identify biological functions of miRNAs that were associated with multiple histological features of NAFLD.RESULTS We identified 16 upregulated plasma miRNAs,including miR-193a-5p and miR-193b-5p,and 22 downregulated plasma miRNAs,including miR-1282 and miR-6734-5p,in adolescents with NAFLD.Moreover,52,16,15,and 9 plasma miRNAs were associated with NASH,fibrosis,ballooning degeneration,and lobular inflammation,respectively.Collectively,16 miRNAs were associated with two or more histological features of NAFLD.Among those miRNAs,miR-411-5p was downregulated in NASH,ballooning,and fibrosis,while miR-122-5p,miR-1343-5p,miR-193a-5p,miR-193b-5p,and miR-7845-5p were consistently and positively associated with all histological features of NAFLD.Pathway analysis revealed that most common pathways of miRNAs associated with multiple NAFLD features have been associated with tumor progression,while we also identified linkages between miR-122-5p and hepatitis C virus and between miR-199b-5p and chronic hepatitis B.CONCLUSION Plasma miRNAs were associated with NAFLD features in adolescent with severe obesity.Larger studies with more heterogeneous NAFLD phenotypes are needed to evaluate miRNAs as potential biomarkers of NAFLD.