The onset of critical rare diseases(RDs)in children is rapid and dangerous,accompanied by a high mortality rate,which brings a heavy burden to both families and society.Multiple malformations,neuromuscular diseases,me...The onset of critical rare diseases(RDs)in children is rapid and dangerous,accompanied by a high mortality rate,which brings a heavy burden to both families and society.Multiple malformations,neuromuscular diseases,metabolic diseases,and heart diseases are the most common types of RDs in children of China,often manifesting with multiple organ dysfunction.At present,the diagnosis and treatment of critical RDs in children face challenges such as prolonged diagnosis time,a high misdiagnosis rate,limited treatment modalities,and a significant disease burden.However,with the progress in genetic testing technology,the establishment of multidisciplinary diagnosis and treatment platforms,and the implementation of relevant RD policies in China,children with critical RDs will received enhanced medical services,experience improved prognoses,and reintegrate into social life.展开更多
Summary What is already known about this topic?Burkholderia pseudomallei(BP)infection leads to melioidosis,a tropical disease endemic to coastal provinces of southern China.Physicians in nonendemic areas,do not common...Summary What is already known about this topic?Burkholderia pseudomallei(BP)infection leads to melioidosis,a tropical disease endemic to coastal provinces of southern China.Physicians in nonendemic areas,do not commonly consider this disease as a primary differential diagnosis for febrile patients.What is added by this report?This article discusses a case of melioidosis in Northern China.The patient,who had recently visited a Southeast Asian region with high melioidosis prevalence,fell ill after exposure to contaminated water.The disease progressed quickly and with severity.What are the implications for public health practice?Healthcare workers need to remain vigilant regarding travel-related diseases for accurate differential diagnosis and to provide timely and effective treatment,especially for patients with recent travel history or symptoms during travel.展开更多
Importance:Neuroblastoma is the most common extracranial malignant solid tumor in children.Multidisciplinary care is critical to improving the survival of pediatric patients with neuroblastoma.Objective:To systematica...Importance:Neuroblastoma is the most common extracranial malignant solid tumor in children.Multidisciplinary care is critical to improving the survival of pediatric patients with neuroblastoma.Objective:To systematically summarize the clinical characteristics of children with neuroblastoma and evaluate their prognosis with multidisciplinary care provided in a single center.Methods:This retrospective study analyzed the clinical data of 1041 patients with neuroblastoma who were diagnosed,treated,and followed-up in the Hematology-Oncology Center of Beijing Children’s Hospital from 2007 to 2019.Results:The median age at diagnosis was 34 months;80.8%of the patients were younger than 5 years of age.Notably,243 patients(23.3%)were classified as low-risk,249 patients(23.9%)were classified as intermediate-risk,and 549(52.7%)were classified as high-risk.Furthermore,956 patients underwent surgical resections;986(94.7%)patients received chemotherapy;and 176 patients with high-risk neuroblastoma received hematopoietic stem cell transplantation.The 5-year event-free survival(EFS)rate was 91.3%and 5-year overall survival(OS)rate was 97.5%in low-risk group;in the intermediate-risk group,these rates were 85.1%and 96.7%,respectively,while they were 37.7%and 48.9%in the high-risk group(P<0.001 for both).The 5-year EFS and OS rates were significantly higher in patients diagnosed between 2015 and 2019 than in patients diagnosed between 2007 and 2014(P<0.001).In total,278 patients(26.7%)exhibited tumor relapse or progression;the median interval until relapse or progression was 14 months.Of the 233 patients who died,83%died of relapse or progression of neuroblastoma and 4.3%died of therapy-related complications.Interpretation:The 5-year OS rate was low in high-risk patients,compared with low-and intermediate-risk patients.Multidisciplinary care is critical for improvement of survival in pediatric patients with neuroblastoma.Additional treatment strategies should be sought to improve the prognosis of patients with high-risk neuroblastoma.展开更多
Importance:Regional clonal replacements of methicillin-resistant Staphylococcus aureus (MRSA) are common.It is necessary to understand the clonal and drug resistance changes in specific areas.Objective:To evaluate the...Importance:Regional clonal replacements of methicillin-resistant Staphylococcus aureus (MRSA) are common.It is necessary to understand the clonal and drug resistance changes in specific areas.Objective:To evaluate the clonal and drug resistance dynamics of MRSA in Chinese children from 2010 to 2017.Methods:MRSA was isolated from patients in Beijing Children's Hospital from 2010 to 2013 and from 2016 to 2017.The molecular characteristics and antibiotic resistance were determined,Results:In total,211 MRSA isolates were collected,and 104 isolates were classified as community-associated MRSA (CA-MRSA).ST59-SCCmec Ⅳ was the most prevalent type in both CA-MRSA (65.4%) and healthcare-associated-MRSA (HA-MRSA) (46.7%).ST239-SCCmec Ⅲ accounted for 21.5% of all HA-MRSA,which were not detected in 2016,and only three isolates were detected in 2017.The pvl gene carrying rate of CA-MRSA was significantly higher than that of HA-MRSA (42.3% vs.29.0%,P =0.0456).Among CA-MRSA,resistance rate to all tested antibiotics excluding chloramphenicol remained stable over the periods of 2010-2013 and 2016-2017.HA-MRSA displayed an overall trend of decreased resistance to oxacillin,gentamicin,tetracycline,ciprofloxacin,and rifampin,and increased resistance to chloramphenicol,consistent with the difference of antibiotic resistance patterns between ST59-SCCmec Ⅳ and ST239-SCCmec Ⅲ isolates.Vancomycin minimal inhibitory concentration (MIC) creep was found in the study period in all MRSA and ST59-SCCmec Ⅳ isolates.Interpretation:ST59-SCCmec Ⅳ has spread to hospitals and replaced the traditional ST239-SCCmec Ⅲ clone,accompanied by changes in drug resistance.Furthermore,vancomycin MIC creep indicated that the rational use of antibiotics should be seriously considered.展开更多
To the Editor:Acute necrotizing encephalopathy(ANE)is a rare but often devastating neurologic disorder in children.[1]Hereditary susceptibility and cytokine storm play important roles in ANE pathogenesis,[2,3]but the ...To the Editor:Acute necrotizing encephalopathy(ANE)is a rare but often devastating neurologic disorder in children.[1]Hereditary susceptibility and cytokine storm play important roles in ANE pathogenesis,[2,3]but the specific molecular biological mechanism is unclear.展开更多
Importance:Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase deficiency is a rare and underdiagnosed disorder with fewer than 30 patients reported worldwide.The application of whole-exome sequencing in p...Importance:Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase deficiency is a rare and underdiagnosed disorder with fewer than 30 patients reported worldwide.The application of whole-exome sequencing in patients could improve our understanding of this disorder.Objective:To identify the genetic causes and evaluate the phenotype of mitochondrial HMG-CoA synthase deficiency in a pediatric patient with uncommon features that included ketosis and elevated lactate and ammonia.Methods:The proband was referred to the pediatric intensive care unit of Beijing Children's Hospital and selected for molecular testing with whole-exome sequencing.Her parents and sibling also underwent sequencing for segregation information.Results:We identified two novel mutations (c.1347_1351 delAGCCT/p.Ala450Profs*7 and c.1201G>T/ p.Glu401*) in the HMG-CoA synthase-2 gene (HMGCS2,NM_005518.3) in the proband and her brother.Both variants were classified as pathogenic variants according to the American College of Medical Genetics and Genomics/ Association for Molecular Pathology guidelines.Metabolic acidosis in the proband was corrected with continuous renal replacement therapy and she left hospital after 21 days of treatment.Interpretation:Our results extend the genotypic and phenotypic spectrum of HMGCS2 mutation in mitochondrial HMG-CoA synthase deficiency patients and serve as a reminder for physicians to consider mitochondrial HMG-CoA synthase deficiency in newborns and children with coma and hypoketotic hypoglycemia after fasting.展开更多
Severe sepsis causes organ dysfunction and continues to be the leading reason for pediatric death worldwide.Early recognition of sepsis could substantially promote precision treatment and reduce the risk of pediatric ...Severe sepsis causes organ dysfunction and continues to be the leading reason for pediatric death worldwide.Early recognition of sepsis could substantially promote precision treatment and reduce the risk of pediatric death.The host cellular response to infection during sepsis between adults and pediatrics could be significantly different.A growing body of studies focused on finding markers in pediatric sepsis in recent years using multi-omics approaches.This narrative review summarized the progress in studying pediatric sepsis biomarkers from genome,transcript,protein,and metabolite levels according to the omics technique that has been applied for biomarker screening.It is most likely not a single biomarker could work for precision diagnosis of sepsis,but a panel of markers and probably a combination of markers detected at multi-levels.Importantly,we emphasize the importance of group distinction of infectious agents in sepsis patients for biomarker identification,because the host response to infection of bacteria,virus,or fungus could be substantially different and thus the results of biomarker screening.Further studies on the investigation of sepsis biomarkers that were caused by a specific group of infectious agents should be encouraged in the future,which will better improve the clinical execution of personalized medicine for pediatric sepsis.展开更多
Introduction:Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis,characterized by hypoglycemia,ketonuria,metabolic acidosis and convulsions.Case presentation:We describe two...Introduction:Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis,characterized by hypoglycemia,ketonuria,metabolic acidosis and convulsions.Case presentation:We describe two brothers with FBPase deficiency.The proband developed severe hypoglycemia and progressed to status epilepticus,and the brother showed slightly hypoglycemia with a good prognosis.Whole exome sequencing (WES) identified compound heterozygous variants [c.333+1333+2delinsTC and c.490G>A (p.Gly164Ser)] in fructose-1,6-bisphosphatase 1 gene in the two brothers,which were inherited from the father and the mother,respectively.Conclusion:Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.展开更多
Importance Hypervirulent variants of Klebsiella pneumoniae(hvKp)are capable of causing life-threatening pyogenic liver abscesses(PLAs),but hvKp caused PLAs was seldom reported in pediatric populations.Hence,there is a...Importance Hypervirulent variants of Klebsiella pneumoniae(hvKp)are capable of causing life-threatening pyogenic liver abscesses(PLAs),but hvKp caused PLAs was seldom reported in pediatric populations.Hence,there is an urgent need to raise our awareness of this phenomenon in pediatric populations.Objective This study aimed to report the clinical characteristics of hvKp that caused fatal PLA complicated by bacteremia in an adolescent and further identify the microbiological and genomic features of the causative strain.Methods A 14-year-old boy with diabetes mellitus was admitted to our hospital with a diagnosis of PLA complicated by bacteremia.A hypermucoviscous hvKp strain,KPN_19-106,was isolated from the drainage fluid present within the liver abscess cavity and blood.The hypermucoviscosity phenotype of the causative strain was determined by string test.Its virulence was measured using serum resistance assay and Galleria mellonella larvae-killing assay.Antimicrobial susceptibility was determined by broth microdilution method.Genetic information was obtained by whole-genome sequencing and bioinformatics analysis.Results KPN_19-106 belonged to sequence type 380 and serotype K2 and exhibited stronger serum resistance and higher in vivo lethality than the well-characterized hvKp NTUH-K2044 strain.Although KPN_19-106 is susceptible to most antibiotics,no sign of improvement was observed during treatment with such drugs.Whole-genome sequencing revealed that the isolate had integrated multiple mobile genetic elements related to virulence.Interpretation Antibiotic-susceptible hvKp can cause fatal PLA complicated by bacteremia in adolescents,with no improvement during antimicrobial therapy.The causative strain in this case had integrated multiple virulence genes and thus exhibited higher virulence both in vitro and in vivo when compared with NTUH-K2044.展开更多
Importance Acute necrotizing encephalopathy(ANE)is a rare disease with high mortality.Plasma exchange(PLEX)has recently been reported to treat ANE of childhood(ANEC),but its efficacy is uncertain.Objective This study ...Importance Acute necrotizing encephalopathy(ANE)is a rare disease with high mortality.Plasma exchange(PLEX)has recently been reported to treat ANE of childhood(ANEC),but its efficacy is uncertain.Objective This study aimed to investigate the effectiveness of PLEX on ANEC.Methods A retrospective study was conducted in four pediatric intensive care units from December 2014 to December 2020.All patients who were diagnosed with ANEC were included;however,these patients were excluded if their length of stay was less than 24 h.Participants were classified into PLEX and non-PLEX groups.Results Twenty-nine patients with ANEC were identified,10 in the PLEX group and 19 in the non-PLEX group.In the PLEX group,C-reactive protein,procalcitonin,alanine aminotransferase,and aspartate aminotransaminase levels were significantly lower after 3 days of treatment than before treatment(13.1 vs.8.0,P=0.043;9.8 vs.1.5,P=0.028;133.4 vs.31.9,P=0.028;282.4 vs.50.5,P=0.046,respectively).Nine patients(31.0%,9/29)died at discharge,and a significantly difference was found between the PLEX group and non-PLEX group[0 vs.47.4%(9/19),P=0.011].The median follow-up period was 27 months,and three patients were lost to follow-up.Thirteen patients(50.0%,13/26)died at the last follow-up,comprising three(33.3%,3/9)in the PLEX group and ten(58.8%,10/17)in the non-PLEX group,but there was no significant difference between the two groups(P=0.411).Three patients(10.3%,3/29)fully recovered.Interpretation PLEX may reduce serum C-reactive protein and procalcitonin levels and improve liver function in the short term.PLEX may improve the prognosis of ANEC,and further studies are needed.展开更多
Thirty-six years ago,a small medical group with fewer than 10 people,only 1 ventilator and 6 beds,founded the first pediatric intensive care unit (PICU) in China,at Beijing Children's Hospital (BCH).It was the mil...Thirty-six years ago,a small medical group with fewer than 10 people,only 1 ventilator and 6 beds,founded the first pediatric intensive care unit (PICU) in China,at Beijing Children's Hospital (BCH).It was the milestone of Chinese pediatric critical care medicine.The leader of this medical group,a woman who deserved to be respected was Professor Xunmei Fan,also a doctoral supervisor and former director of BCH.Many domestic 'first' were created under the consistent efforts of Prof.展开更多
Overview of critical care medicineThe history of critical care medicine (CCM) dates back more than a century.The predecessor of the intensive care unit (ICU) was a 'special ward' where doctors and nurses used ...Overview of critical care medicineThe history of critical care medicine (CCM) dates back more than a century.The predecessor of the intensive care unit (ICU) was a 'special ward' where doctors and nurses used integrated equipment to effectively treat a large number of patients suffering from the same disease.展开更多
INTRODUCTION Herpes simplex virus (HSV) is a ubiquitous human pathogen that causes a range of diseases from mild uncomplicated mucocutaneous infection to life-threatening conditions.1 HSV-1 is normally associated with...INTRODUCTION Herpes simplex virus (HSV) is a ubiquitous human pathogen that causes a range of diseases from mild uncomplicated mucocutaneous infection to life-threatening conditions.1 HSV-1 is normally associated with orofacial infections,whereas HSV-2 usually causes genital infections and can be transmitted from infected mothers to neonates.2 Less common manifestations of HSV infection,such as meningitis,encephalitis,3,4 hepatitis,5 and pneumonitis,6,7 can occur in both children and adults.After primary infection by HSV,the virus establishes a lifelong latent infection in the neuronal district,resulting in reactivation due to various triggering factors.展开更多
基金National Key Clinical Specialty Construction Project:Grant/Award Number:2021-451Beijing Major Epidemic Prevention and Control Key Specialty Outstanding Project:Grant/Award Number:2021-135。
文摘The onset of critical rare diseases(RDs)in children is rapid and dangerous,accompanied by a high mortality rate,which brings a heavy burden to both families and society.Multiple malformations,neuromuscular diseases,metabolic diseases,and heart diseases are the most common types of RDs in children of China,often manifesting with multiple organ dysfunction.At present,the diagnosis and treatment of critical RDs in children face challenges such as prolonged diagnosis time,a high misdiagnosis rate,limited treatment modalities,and a significant disease burden.However,with the progress in genetic testing technology,the establishment of multidisciplinary diagnosis and treatment platforms,and the implementation of relevant RD policies in China,children with critical RDs will received enhanced medical services,experience improved prognoses,and reintegrate into social life.
文摘Summary What is already known about this topic?Burkholderia pseudomallei(BP)infection leads to melioidosis,a tropical disease endemic to coastal provinces of southern China.Physicians in nonendemic areas,do not commonly consider this disease as a primary differential diagnosis for febrile patients.What is added by this report?This article discusses a case of melioidosis in Northern China.The patient,who had recently visited a Southeast Asian region with high melioidosis prevalence,fell ill after exposure to contaminated water.The disease progressed quickly and with severity.What are the implications for public health practice?Healthcare workers need to remain vigilant regarding travel-related diseases for accurate differential diagnosis and to provide timely and effective treatment,especially for patients with recent travel history or symptoms during travel.
基金Capital's Funds for Health Improvement and Research(No.CFH2018-2-2095)。
文摘Importance:Neuroblastoma is the most common extracranial malignant solid tumor in children.Multidisciplinary care is critical to improving the survival of pediatric patients with neuroblastoma.Objective:To systematically summarize the clinical characteristics of children with neuroblastoma and evaluate their prognosis with multidisciplinary care provided in a single center.Methods:This retrospective study analyzed the clinical data of 1041 patients with neuroblastoma who were diagnosed,treated,and followed-up in the Hematology-Oncology Center of Beijing Children’s Hospital from 2007 to 2019.Results:The median age at diagnosis was 34 months;80.8%of the patients were younger than 5 years of age.Notably,243 patients(23.3%)were classified as low-risk,249 patients(23.9%)were classified as intermediate-risk,and 549(52.7%)were classified as high-risk.Furthermore,956 patients underwent surgical resections;986(94.7%)patients received chemotherapy;and 176 patients with high-risk neuroblastoma received hematopoietic stem cell transplantation.The 5-year event-free survival(EFS)rate was 91.3%and 5-year overall survival(OS)rate was 97.5%in low-risk group;in the intermediate-risk group,these rates were 85.1%and 96.7%,respectively,while they were 37.7%and 48.9%in the high-risk group(P<0.001 for both).The 5-year EFS and OS rates were significantly higher in patients diagnosed between 2015 and 2019 than in patients diagnosed between 2007 and 2014(P<0.001).In total,278 patients(26.7%)exhibited tumor relapse or progression;the median interval until relapse or progression was 14 months.Of the 233 patients who died,83%died of relapse or progression of neuroblastoma and 4.3%died of therapy-related complications.Interpretation:The 5-year OS rate was low in high-risk patients,compared with low-and intermediate-risk patients.Multidisciplinary care is critical for improvement of survival in pediatric patients with neuroblastoma.Additional treatment strategies should be sought to improve the prognosis of patients with high-risk neuroblastoma.
基金This study was funded by National Natural Science Foundation of China(81571948)the Beijing Natural Science Foundation(7172075).
文摘Importance:Regional clonal replacements of methicillin-resistant Staphylococcus aureus (MRSA) are common.It is necessary to understand the clonal and drug resistance changes in specific areas.Objective:To evaluate the clonal and drug resistance dynamics of MRSA in Chinese children from 2010 to 2017.Methods:MRSA was isolated from patients in Beijing Children's Hospital from 2010 to 2013 and from 2016 to 2017.The molecular characteristics and antibiotic resistance were determined,Results:In total,211 MRSA isolates were collected,and 104 isolates were classified as community-associated MRSA (CA-MRSA).ST59-SCCmec Ⅳ was the most prevalent type in both CA-MRSA (65.4%) and healthcare-associated-MRSA (HA-MRSA) (46.7%).ST239-SCCmec Ⅲ accounted for 21.5% of all HA-MRSA,which were not detected in 2016,and only three isolates were detected in 2017.The pvl gene carrying rate of CA-MRSA was significantly higher than that of HA-MRSA (42.3% vs.29.0%,P =0.0456).Among CA-MRSA,resistance rate to all tested antibiotics excluding chloramphenicol remained stable over the periods of 2010-2013 and 2016-2017.HA-MRSA displayed an overall trend of decreased resistance to oxacillin,gentamicin,tetracycline,ciprofloxacin,and rifampin,and increased resistance to chloramphenicol,consistent with the difference of antibiotic resistance patterns between ST59-SCCmec Ⅳ and ST239-SCCmec Ⅲ isolates.Vancomycin minimal inhibitory concentration (MIC) creep was found in the study period in all MRSA and ST59-SCCmec Ⅳ isolates.Interpretation:ST59-SCCmec Ⅳ has spread to hospitals and replaced the traditional ST239-SCCmec Ⅲ clone,accompanied by changes in drug resistance.Furthermore,vancomycin MIC creep indicated that the rational use of antibiotics should be seriously considered.
基金supported by a grant from Capital’s Funds for Health Improvement and Research of Beijing Children’s Hospital,Capital Medical University(No.2020-2-2094)
文摘To the Editor:Acute necrotizing encephalopathy(ANE)is a rare but often devastating neurologic disorder in children.[1]Hereditary susceptibility and cytokine storm play important roles in ANE pathogenesis,[2,3]but the specific molecular biological mechanism is unclear.
文摘Importance:Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase deficiency is a rare and underdiagnosed disorder with fewer than 30 patients reported worldwide.The application of whole-exome sequencing in patients could improve our understanding of this disorder.Objective:To identify the genetic causes and evaluate the phenotype of mitochondrial HMG-CoA synthase deficiency in a pediatric patient with uncommon features that included ketosis and elevated lactate and ammonia.Methods:The proband was referred to the pediatric intensive care unit of Beijing Children's Hospital and selected for molecular testing with whole-exome sequencing.Her parents and sibling also underwent sequencing for segregation information.Results:We identified two novel mutations (c.1347_1351 delAGCCT/p.Ala450Profs*7 and c.1201G>T/ p.Glu401*) in the HMG-CoA synthase-2 gene (HMGCS2,NM_005518.3) in the proband and her brother.Both variants were classified as pathogenic variants according to the American College of Medical Genetics and Genomics/ Association for Molecular Pathology guidelines.Metabolic acidosis in the proband was corrected with continuous renal replacement therapy and she left hospital after 21 days of treatment.Interpretation:Our results extend the genotypic and phenotypic spectrum of HMGCS2 mutation in mitochondrial HMG-CoA synthase deficiency patients and serve as a reminder for physicians to consider mitochondrial HMG-CoA synthase deficiency in newborns and children with coma and hypoketotic hypoglycemia after fasting.
基金Research and Application of Clinical Diagnosis and Treatment Technology in Capital,Grant/Award Number:Z211100002921063Beijing Natural Science Foundation,Grant/Award Number:7232052。
文摘Severe sepsis causes organ dysfunction and continues to be the leading reason for pediatric death worldwide.Early recognition of sepsis could substantially promote precision treatment and reduce the risk of pediatric death.The host cellular response to infection during sepsis between adults and pediatrics could be significantly different.A growing body of studies focused on finding markers in pediatric sepsis in recent years using multi-omics approaches.This narrative review summarized the progress in studying pediatric sepsis biomarkers from genome,transcript,protein,and metabolite levels according to the omics technique that has been applied for biomarker screening.It is most likely not a single biomarker could work for precision diagnosis of sepsis,but a panel of markers and probably a combination of markers detected at multi-levels.Importantly,we emphasize the importance of group distinction of infectious agents in sepsis patients for biomarker identification,because the host response to infection of bacteria,virus,or fungus could be substantially different and thus the results of biomarker screening.Further studies on the investigation of sepsis biomarkers that were caused by a specific group of infectious agents should be encouraged in the future,which will better improve the clinical execution of personalized medicine for pediatric sepsis.
基金grants from the National Natural Science Foundation of China(81701125)the Foundation of Henan Scientific committee(182102310418)+1 种基金the Foundation of Henan Provincial Department of health(2018020603)the Educational commission of Henan province of China(18A310029).
文摘Introduction:Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis,characterized by hypoglycemia,ketonuria,metabolic acidosis and convulsions.Case presentation:We describe two brothers with FBPase deficiency.The proband developed severe hypoglycemia and progressed to status epilepticus,and the brother showed slightly hypoglycemia with a good prognosis.Whole exome sequencing (WES) identified compound heterozygous variants [c.333+1333+2delinsTC and c.490G>A (p.Gly164Ser)] in fructose-1,6-bisphosphatase 1 gene in the two brothers,which were inherited from the father and the mother,respectively.Conclusion:Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.
基金Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support(grant number ZYLX201813).
文摘Importance Hypervirulent variants of Klebsiella pneumoniae(hvKp)are capable of causing life-threatening pyogenic liver abscesses(PLAs),but hvKp caused PLAs was seldom reported in pediatric populations.Hence,there is an urgent need to raise our awareness of this phenomenon in pediatric populations.Objective This study aimed to report the clinical characteristics of hvKp that caused fatal PLA complicated by bacteremia in an adolescent and further identify the microbiological and genomic features of the causative strain.Methods A 14-year-old boy with diabetes mellitus was admitted to our hospital with a diagnosis of PLA complicated by bacteremia.A hypermucoviscous hvKp strain,KPN_19-106,was isolated from the drainage fluid present within the liver abscess cavity and blood.The hypermucoviscosity phenotype of the causative strain was determined by string test.Its virulence was measured using serum resistance assay and Galleria mellonella larvae-killing assay.Antimicrobial susceptibility was determined by broth microdilution method.Genetic information was obtained by whole-genome sequencing and bioinformatics analysis.Results KPN_19-106 belonged to sequence type 380 and serotype K2 and exhibited stronger serum resistance and higher in vivo lethality than the well-characterized hvKp NTUH-K2044 strain.Although KPN_19-106 is susceptible to most antibiotics,no sign of improvement was observed during treatment with such drugs.Whole-genome sequencing revealed that the isolate had integrated multiple mobile genetic elements related to virulence.Interpretation Antibiotic-susceptible hvKp can cause fatal PLA complicated by bacteremia in adolescents,with no improvement during antimicrobial therapy.The causative strain in this case had integrated multiple virulence genes and thus exhibited higher virulence both in vitro and in vivo when compared with NTUH-K2044.
基金This study was supported by Capital’s Funds for Health Improvement and Research of Beijing Children’s Hospital,Capital Medical University(No.2020-2-2094)the CAMS Innovation Fund for Medical Sciences(No.2019-I2M-5-026)We would like to thank all the families and individuals who participated in this study,and appreciate all the staffs in the PICU from the four centers.
文摘Importance Acute necrotizing encephalopathy(ANE)is a rare disease with high mortality.Plasma exchange(PLEX)has recently been reported to treat ANE of childhood(ANEC),but its efficacy is uncertain.Objective This study aimed to investigate the effectiveness of PLEX on ANEC.Methods A retrospective study was conducted in four pediatric intensive care units from December 2014 to December 2020.All patients who were diagnosed with ANEC were included;however,these patients were excluded if their length of stay was less than 24 h.Participants were classified into PLEX and non-PLEX groups.Results Twenty-nine patients with ANEC were identified,10 in the PLEX group and 19 in the non-PLEX group.In the PLEX group,C-reactive protein,procalcitonin,alanine aminotransferase,and aspartate aminotransaminase levels were significantly lower after 3 days of treatment than before treatment(13.1 vs.8.0,P=0.043;9.8 vs.1.5,P=0.028;133.4 vs.31.9,P=0.028;282.4 vs.50.5,P=0.046,respectively).Nine patients(31.0%,9/29)died at discharge,and a significantly difference was found between the PLEX group and non-PLEX group[0 vs.47.4%(9/19),P=0.011].The median follow-up period was 27 months,and three patients were lost to follow-up.Thirteen patients(50.0%,13/26)died at the last follow-up,comprising three(33.3%,3/9)in the PLEX group and ten(58.8%,10/17)in the non-PLEX group,but there was no significant difference between the two groups(P=0.411).Three patients(10.3%,3/29)fully recovered.Interpretation PLEX may reduce serum C-reactive protein and procalcitonin levels and improve liver function in the short term.PLEX may improve the prognosis of ANEC,and further studies are needed.
文摘Thirty-six years ago,a small medical group with fewer than 10 people,only 1 ventilator and 6 beds,founded the first pediatric intensive care unit (PICU) in China,at Beijing Children's Hospital (BCH).It was the milestone of Chinese pediatric critical care medicine.The leader of this medical group,a woman who deserved to be respected was Professor Xunmei Fan,also a doctoral supervisor and former director of BCH.Many domestic 'first' were created under the consistent efforts of Prof.
文摘Overview of critical care medicineThe history of critical care medicine (CCM) dates back more than a century.The predecessor of the intensive care unit (ICU) was a 'special ward' where doctors and nurses used integrated equipment to effectively treat a large number of patients suffering from the same disease.
基金grants from the National Major S&T Research Projects for the Control and Prevention of Major Infectious Diseases in China(2017ZX10103004-004,2018ZX10003006-001-004)the National Natural Science Foundation of China(31370203)+1 种基金the Capital Health Research and Development of Special Projects(2016-2-1142)Hospitals Foundation(QML20161201).
文摘INTRODUCTION Herpes simplex virus (HSV) is a ubiquitous human pathogen that causes a range of diseases from mild uncomplicated mucocutaneous infection to life-threatening conditions.1 HSV-1 is normally associated with orofacial infections,whereas HSV-2 usually causes genital infections and can be transmitted from infected mothers to neonates.2 Less common manifestations of HSV infection,such as meningitis,encephalitis,3,4 hepatitis,5 and pneumonitis,6,7 can occur in both children and adults.After primary infection by HSV,the virus establishes a lifelong latent infection in the neuronal district,resulting in reactivation due to various triggering factors.
