"Journal of Clinical Pediatrics" is a monthly magazine. It was founded in 1983. ISSN-1000-3606 is the international magazine and CN:31-1377/R is the national standard magazine. It is a professional academic journal of Pediatrics sponsored by Shanghai Institute of Pediatrics Medicine and Xinhua Hospital affiliated to Shanghai Jiaotong University Medical College. Medical College of Shanghai Jiaotong...
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15 October 2020, Volume 38 Issue 10
  • Effect of exchange transfusion in the treatment of pertussis in children with hyperleukocytemia
    GAN Chuan, WU Xiaoying, XU Hongmei, et al
    2020, 38(10):  721.  doi:10.3969/j.issn.1000-3606.2020.10.001
    Abstract ( 43 )   PDF (1318KB) ( 41 )  
    Objective To explore the effect and timing of exchange transfusion on the treatment of pertussis in hyperleukocytemia. Method? The?effects?of?exchange?transfusion?and?other?treatments?in?pertussis?children?with?the?highest? white?blood?cell?count?(WBC)?of?>50×109/L?were?retrospectively?analyzed.?Results? A?total?of?72?children?with?pertussis?(24? boys?and?48?girls),?with?the?highest?WBC?of?>50×109/L?were?studied.?They?were?divided?into?the?exchange?transfusion?group?(17? cases)?and?the?non-exchange?transfusion?group?(55?cases).?Compared?with?the?non-exchange?transfusion?group,?the?interval?from? onset?to?admission?was?shorter,?the?incidence?of?severe?pneumonia?and?heart?failure?was?higher,?and?the?highest?WBC?was?higher? in?the?exchange?transfusion?group?(P<0.05).?The?distribution?of?the?highest?WBC?was?statistically?significant?different?between? the?two?groups?(P<0.01),?and?the?proportion?of?the?highest?WBC?≥70×109/L?in?the?exchange?transfusion?group?was?higher.?The? decrease?rate?of?WBC?in?children?with?the?highest?WBC?≥70×109/L?in?the?exchange?transfusion?group?was?higher?than?that?in?the? non-exchange?transfusion?group,?and?the?difference?was?statistically?significant?(P<0.05).?When?the?ROC?curve?of?the?highest? WBC?was?plotted?to?predict?pertussis?death?in?the?non-exchange?transfusion?group,?it?was?found?that,?at?the?optimal?critical?value? of?WBC?71.9×109/L,?the?sensitivity?and?specificity?of?the?prediction?of?death?were?80%?and?90%,?and??AUC?was?0.89?(95%?CI: 0.74~1.00,?P=0.004).?Conclusions? Exchange?transfusion?is?an?effective?treatment?to?reduce?WBC,?but?its?effect?on?improving? clinical?symptoms?is?not?clear.?When?WBC?is?(50~71.9)×109/L,?other?indicators?need?to?be?considered?for?whether?exchange? transfusion?should?be?applied.?When?WBC?≥71.9×109/L,?transfusion?therapy?may?be?required.?
    The level of antibodies to Bordetella pertussis among pregnant women and their newborns in Jinan area
    LIU Yanqin, WANG Li, YU Huafeng, et al
    2020, 38(10):  726.  doi:10.3969/j.issn.1000-3606.2020.10.002
    Abstract ( 22 )   PDF (1245KB) ( 10 )  
    Objective? To?explore?the?pertussis?antibody?levels?of?mothers?of?different?ages?and?their?newborns.? Methods Enzyme-linked?immunosorbent?assay?was?used?to?detect?the?pertussis?antibody?levels?in?the?peripheral?blood?of?100? pairs?of?healthy?mothers?of?different?ages?and?the?umbilical?cord?blood?(newborn?side)?of?their?newborns.?Results The median levels?of?pertussis?IgG?antibodies?in?women?born?in?the?1970s,?1980s?and?1990s?were?7.99?IU/mL,?5.00?IU/mL?and?5.71?IU/ mL,?respectively,?and?the?difference?among?the?three?groups?were?statistically?significant?(P<0.05).?Serum?pertussis?IgG?antibody? was?negative?in?97%?of?the?mothers?and?negative?in?92%?of?the?newborns.?There?was?a?positive?correlation?between?maternal? serum?pertussis?IgG?antibody?levels?and?neonatal?umbilical?cord?blood?pertussis?IgG?antibody?levels?(r=0.76, P<0.001).? Conclusion? Current?maternal?pertussis?antibodies?cannot?protect?women?from?pertussis?infection,?and?the?protective?effect?of?fetal? antibodies?obtained?from?the?mother?is?weak.?Further?adjustment?of?immunization?strategies?to?prevent?pertussis?may?be?considered.?
    Clinical analysis of pulmonary abscess in 94 children
    TAN Jing, LI Zhuxia, LEI Yinlan, et al
    2020, 38(10):  730.  doi:10.3969/j.issn.1000-3606.2020.10.003
    Abstract ( 25 )   PDF (1269KB) ( 23 )  
    Objective? To?explore?the?diagnosis?and?treatment?of?pulmonary?abscess?in?children.?Method The clinical data?of?pulmonary?abscess?in?94?children?were?retrospectively?analyzed.?Results? There?were?totally?94?children?(57?boys?and? 37?girls)?with?a?median?age?of?2.3?years?(1?month?to?17?years?and?5?months),?including?54?children?with?primary?pulmonary? abscess?and?40?children?with?secondary?pulmonary?abscess.?The?common?symptoms?were?fever,?cough,?shortness?of?breath,? dyspnea?and?chest?pain.?Compared?with?primary?pulmonary?abscess?group,?the?proportion?of?albumin?<30?g/L?and?the?level?of? CRP?were?higher?in?the?secondary?lung?abscess?group?(P<0.05).?Sixty-six?children?were?detected?positive?for?pathogens,?and?81? strains?were?detected.?Streptococcus pneumoniae and Mycoplasma pneumoniae?were?the?main?pathogens?in?primary?pulmonary? abscess?group,?while?Staphylococcus aureus,?Streptococcus pneumoniae and Klebsiella pneumoniae?were?the?main?pathogens?in? secondary?pulmonary?abscess?group.?All?94?patients?were?treated?with?antibiotics,?2?with?antifungal?therapy?and?18?with?surgery.? Ninety-one?children?were?discharged?after?remission.?Three?patients?had?poor?outcomes?(2?gave?up?treatment?and?1?died)?and?all? of?them?were?secondary?pulmonary?abscesses.?Compared?with?the?primary?pulmonary?abscess?group,?the?secondary?pulmonary? abscess?group?had?a?higher?proportion?of?ICU?cases?and?longer?hospital?stay,?and?the?differences?were?statistically?significant? (P<0.05).?Conclusion? Children?with?primary?and?secondary?pulmonary?abscesses?are?commonly?infected?with?Streptococcus pneumoniae and Staphylococcus aureus,?respectively,?and?the?antibiotic?treatment?is?required,?and?surgery?is?required?in?some? cases.?Secondary?pulmonary?abscess?has?more?severe?symptoms?and?longer?treatment?time?than?primary?pulmonary?abscess.
    Effect of heparin combined with warfarin in the treatment of thrombogenesis in children
    DU Qingxia, LI Lei, BIE Wenhui, et al
    2020, 38(10):  736.  doi:10.3969/j.issn.1000-3606.2020.10.004
    Abstract ( 30 )   PDF (1300KB) ( 19 )  
    Objective? To?explore?the?common?causes?of?thrombogenesis?in?children?and?observe?the?anticoagulant? effect?of?heparin?combined?with?warfarin.?Methods? The?clinical?data?of?children?diagnosed?with?thrombosis?and?receiving? anticoagulant?treatment?of?heparin?combined?with?warfarin?from?March?2017?to?March?2019?were?analyzed?retrospectively.? According?to?the?target?value?of?international?standardized?ratio?(INR)?during?treatment,?the?children?were?divided?into?INR? 1.0~1.5?group,?INR?1.5~2.0?group?and?INR>2.0?group,?and?the?duration?and?efficacy?of?anticoagulation?therapy?among?the?three? groups?were?compared?and?analyzed.?Results? Sixty-four?children?were?included?(40?males?and?24?females),?and?29?patients? (45.3%)?were?younger?than?2?years?old.?The?primary?diseases?were?mainly?hematological?tumor?diseases?(36?cases,?56.2%)?and? cardiovascular?diseases?(20?cases,?31.2%).?Thrombogenesis?was?caused?by?central?venous?catheterization?in?38?cases?(59.38%),? peripheral?arteriovenous?puncture?in?12?cases?(18.75%),?severe?infection?in?4?cases?(6.25%),?tumor?in?4?cases?(6.25%),?femoral? venous?catheterization?in?2?cases?(3.12%),?arrhythmia?in?2?cases?(3.12%),?and?coronary?artery?disease?of?Kawasaki?disease?in?2? cases?(3.12%).?There?were?20?cases?in?the?INR?1.0~1.5?group?(11?males?and?9?females),?28?cases?in?the?INR?1.5~2.0?group?(18? males?and?10?females),?and?13?cases?in?the?INR>2.0?group?(9?males?and?4?females).?There?was?a?statistically?significant?difference? in?the?median?time?of?anticoagulation?treatment?among?the?three?groups?(P<0.05).?In?pairwise?comparison,?the?anticoagulation? treatment?time?in?the?INR?1.5~2.0?group?was?significantly?shorter?than?that?in?the?INR?1.0~1.5?group,?and?the?difference?was? statistically?significant?(P=0.014).?Conclusion? Anticoagulation?is?the?main?method?for?the?treatment?of?thrombogenesis?in? children?and?its?efficacy?is?good.?Low-dose?warfarin?anticoagulation?can?inhibit?thrombogenesis?and?there?is?no?need?to?adjust? INR?to?>2.0.
    A retrospective cohort study on gene variation and clinical features of steroid resistant nephrotic syndrome in children
    CAI Xiaoyi, DENG Huiying, CHEN Ye, et al
    2020, 38(10):  740.  doi:10.3969/j.issn.1000-3606.2020.10.005
    Abstract ( 22 )   PDF (1255KB) ( 22 )  
    Objective? To?explore?the?gene?variation?and?clinical?characteristics?of?steroid?resistant?nephrotic?syndrome? (SRNS).?Methods? The?clinical?data?of?58?children?with?SRNS?diagnosed?by?whole?exon?sequencing?(WES)?from?May? 2015?to?June?2019?were?retrospectively?analyzed,?and?the?clinical?indicators,?renal?pathological?types,?remission?rate?of? immunosuppressive?therapy?and?renal?survival?time?were?compared?between?children?with?or?without?gene?mutation.?Results? In? 58?children?with?SRNS?(35?boys?and?23?girls),?the?age?at?onset?ranged?from?1?month?to?12?years.?Gene?variation?was?detected? in?31?cases,?mainly?WT1?and?NPHS1.?The?incidence?of?renal?insufficiency?in?31?cases?with?gene?mutation?was?significantly? higher?than?that?in?27?cases?without?gene?mutation?(P<0.05).?The?complete?remission?rate?of?children?without?gene?mutation?was? 73.08%,?which?was?significantly?higher?than?that?of?children?with?gene?mutation?(41.18%),?and?the?difference?was?statistically? significant?(P<0.05).?The?kidney?survival?time?of?children?with?genetic?mutation?was?(39.40±6.95)?months,?as?compared? with?(58.90±4.87)?months?in?children?without?genetic?mutation?was,?and?the?difference?was?statistically?significant?(χ2=9.98,? P<0.01).?Conclusion? Gene?detection?is?of?great?significance?in?etiological?diagnosis,?treatment,?prognosis?and?recurrence? prediction?after?renal?transplantation?in?children?with?SRNS.
    Comparative analysis of clinical characteristics between Kawasaki disease and systemic macrophage activation syndrome and systematic-onset juvenile idiopathic arthritis
    ZHOU Weiran, LIU Xuemei, DONG Linlin, et al
    2020, 38(10):  744.  doi:10.3969/j.issn.1000-3606.2020.10.006
    Abstract ( 31 )   PDF (1232KB) ( 29 )  
    Objective? To?explore?the?comparison?of?the?clinical?features?between?Kawasaki?disease?(KD)?and?systematiconset?juvenile?idiopathic?arthritis?(SJIA)?with?macrophage?activation?syndrome?(MAS).?Method The clinical data of 5 cases of KD-MAS?and?8?cases?of?SJIA-MAS?children?admitted?from?September?2015?to?September?2019?were?retrospectively?analyzed.? Results? The?children?with?KD-MAS?were?all?male,?aged?from?5?months?to?7?years?and?10?months.?In?the?SJIA-MAS?group,?8? children?(3?boys?and?5?girls)?aged?from?1?year?and?2?months?to?11?years?had?10?times?of?MAS?in?total,?among?whom,?one?boy? and?one?girl?had?two?times?of?MAS?respectively,?and?the?age?at?recurrence?was?6?years?and?7?months,?and?8?years?and?5?months,? respectively.?The?main?clinical?manifestations?of?all?the?children?were?persistent?high?fever.?Comparison?of?laboratory?indicators? showed?that?ferritin?level?was?correlated?with?LDH?level?(r=0.071,?P=0.03).?The?median?ferritin?was?14900?ng/mL?and?the? median?LDH?was?1264.5?U/L?in?the?SJIA-MAS?group.?The?median?ferritin?and?LDH?in?the?KD-MAS?group?was?736?ng/ml?and? 492?U/L?respectively,?and?the?differences?between?the?two?groups?were?statistically?significant?(both?P<0.05).?One?case?in?the? KD-MAS?group?and?3?cases?in?the?SJIA-MAS?group?underwent?genetic?testing,?and?no?HLH-related?genes?were?detected.?The? condition?of?all?children?were?able?to?be?effectively?controlled.?Conclusion? LDH?may?serve?as?another?sensitive?indicator?for? early?identification?of?MAS?in?addition?to?ferritin.?There?are?differences?between?KD-MAS?and?SJIA-MAS?in?ferritin?and?LDH? levels.?The?application?of?SJIA-MAS?2016?diagnostic?criteria?to?diagnose?KD-MAS?is?more?sensitive.?KD-MAS?can?achieve? better?curative?effect?through?glucocorticoid?treatment,?and?the?prognosis?is?better?than?SJIA-MAS.
    Clinical analysis of metabolic bone disease in 6 premature infants with fracture
    LIU Yingli, ZHOU Lin, ZHANG Yonghong, et al
    2020, 38(10):  749.  doi:10.3969/j.issn.1000-3606.2020.10.007
    Abstract ( 22 )   PDF (1330KB) ( 26 )  
    Objective? To?explore?the?clinical?features?of?metabolic?bone?disease?with?fracture?in?preterm?infants.? Method? The?clinical?data?of?metabolic?bone?disease?with?fractures?in?6?neonates?admitted?from?January?2016?to?April?2020?were? retrospectively?analyzed.?Results? Among?the?6?newborns?(5?boys?and?one?girl),?the?median?gestational?age?was?27.1?weeks,? and?the?median?birth?weight?was?900?g.?Among?the?6?newborns,?multiple?costal?fractures?occurred?in?one?case,?left?humeral? fracture?occurred?in?one?case,?left?femoral?fracture?occurred?in?two?cases,?femoral?and?humeral?fracture?occurred?in?two?cases,? and?right?humeral?fracture?occurred?in?one?case.?The?blood?phosphorus?of?the?6?newborns?were?all?<1.8?mmol/L,?and?the?blood? alkaline?phosphatase?were?all?>600?IU/L,?and?the?blood?calcium?were?in?the?normal?range.?All?the?6?neonates?were?complicated? with?retinopathy?of?prematurity?and?bronchopulmonary?dysplasia,?and?one?was?complicated?with?necrotizing?enterocolitis.?After? active?treatment?with?calcium,?phosphorus?and?vitamin?D3,?6?neonates?were?discharged?from?hospital?after?recovery?from?fracture.? Conclusion? Premature?infants?with?very?low?birth?weight?should?pay?attention?to?avoid?metabolic?osteopathy?complicated?with? fracture.
    Incomplete Kawasaki disease with initial symptoms of fever and jaundice: a report of 2 cases and literature review
    MA Yingying, PENG Shao, CHU Weihong, et al
    2020, 38(10):  754.  doi:10.3969/j.issn.1000-3606.2020.10.008
    Abstract ( 27 )   PDF (1236KB) ( 30 )  
    Objective To?explore?the?clinical?features?of?incomplete?Kawasaki?disease?(IKD)?with?first?symptoms?of? fever?and?jaundice.?Method The?clinical?data?of?incomplete?KD?with?the?first?symptoms?of?fever?and?jaundice?in?2?cases?were? retrospectively?analyzed,?and?relevant?literature?was?reviewed.?Results In?two?patients?(3-year-?and?9-month-old?boy?and?a? 10-year-old?girl),?the?main?early?symptoms?were?fever,?yellowish?skin,?lymphadenopathy?and?bulbar?conjunctival?hyperemia,? and?no?rash.?They?presented?with?periungual?and?perianal?desquamation?and?coronary?artery?ectasia?at?the?later?stage.?The?boy? developed?oculomotor?palsy?and?gamma?globulin?resistance,?and?the?girl?developed?KD?shock?syndrome.?Conclusion The diagnosis?in?IKD?children?with?fever?and?jaundice?as?the?first?symptoms?may?be?delayed?due?to?atypical?symptoms.
    Antimicrobial resistance and resistance genes analysis of extended-spectrum β-lactamase producing Klebsiella pneumoniae in children with severe infection
    QIU Haiyan, WU Junhua
    2020, 38(10):  757.  doi:10.3969/j.issn.1000-3606.2020.10.009
    Abstract ( 29 )   PDF (1262KB) ( 17 )  
     Objective? To?understand?the?distribution?of?drug?resistance?and?genotype?of?extended-spectrum?β-lactamase? (ESBL)-producing?Klebsiella pneumoniae?(KP)?in?children?with?severe?infection.?Methods? KP?routinely?separated?in?intensive? care?unit?was?collected,?and?ESBLs?detection?was?conducted?by?double-paper?cooperative?test.?Drug?sensitivity?detection?was? conducted?by?microbroth?dilution?method,?and?drug?resistance?genes?including?intl1,?acc,?ampC,?CTX-M1,?CTX-M3,?DHA1,? OXA,?shv,?tem,?NDM,?DHA1,??fox and per?were?detected?by?polymerase?chain?reaction?(PCR).?Results? A?total?of?143?KP?strains? were?isolated?mainly?from?respiratory?specimens?(81.8%),?73.4%?of?which?were?sputum?specimens.?The?78?strains?of?ESBLs? KP?showed?varying?degrees?of?resistance?to?24?antibiotics,?and?the?rates?of?resistance?to?ampicillin,?cefazolin?and?piperacillin?were? up?to?100%.?The?rate?of?resistance?to?aztreonam,?ceftriaxone?and?tetracycline?were?over?74%.?The?rates?of?sensitivity?to?amikacin,? donipenem,?ertapenem,?meropenem,?tigecycline?and?nitrofurantoin?were?all?100%,?and?one?KP?strain?resistant?to?imipenem?was? detected.?The?drug?resistance?gene?test?showed?that?DHA1,?Shv,?Tem,?CTX-M1,?CTX-M3 and Intl1?were?all?detected?to?varying? degrees,?and?the?detection?rate?of?Shv?was?as?high?as?87.2%.?Strains?with?2,?3?and?≥4??resistant?genes?accounted?for?30.7%,? 62.8%?and?24.4%,?respectively.?Conclusion? The?rate?of?ESBLs?producing?KP?in?severe?infection?children?is?high?and?the? pattern of multidrug resistance is complex.
    Application of splenectomy in Wiskott-Aldrich syndrome with eczema and thrombocytopenia in children
    DAI Rongxin, LI Wenyan, DU Xiao, et al
    2020, 38(10):  760.  doi:10.3969/j.issn.1000-3606.2020.10.010
    Abstract ( 15 )   PDF (1342KB) ( 13 )  
    Objectives To?explore?the?effect?of?splenectomy?on?the?prognosis?of?Wiskott-Aldrich?syndrome?(WAS)?with? eczema?and?thrombocytopenia.?Method The?clinical?data?of?mild?WAS?syndrome?in?a?child?who?underwent?splenectomy?in?2015? were?retrospectively?analyzed,?and?the?relevant?literature?was?reviewed.?Results A?boy?had?multiple?episodes?of?skin?and?mucous? membrane?bleeding?and?gastrointestinal?bleeding?after?birth,?and?the?lowest?platelet?count?was?3×109/L.?X-linked?thrombocytopenia? (XLT)?was?diagnosed?by?genetic?testing?at?the?age?of?12?years.?Splenectomy?was?performed?at?the?age?of?16?years?due?to?the? recurrence?of?skin?and?mucosal?bleeding.?No?targeted?vaccinations?were?given?before?and?after?the?operation.?On?the?2nd?day? after?splenectomy,?the?platelet?count?rose?to?normal.?On?the?26th?day?after?operation,?the?patient?developed?fever,?skin?and?mucous? membrane?hemorrhage,?accompanied?by?severe?thrombocytopenia,?so?he?was?diagnosed?with?severe?sepsis.?After?anti-infection?and? supportive?treatment?for?nearly?3?months,?the?temperature?was?gradually?stabilized,?respiratory?symptoms?was?improved,?and?platelet? count?was?stabilized?to?a?normal?level.?It?had?been?reported?that?platelet?counts?in?WAS?and?XLT?children?undergoing?splenectomy? could?rise?to?normal?levels,?but?these?children?were?at?risk?of?severe?postoperative?infection.?Conclusion Splenectomy is one of the?alternative?treatment?options?for?XLT?patients?with?refractory?thrombocytopenia?and?with?difficulty?in?conventional?treatment.? Prophylactic?vaccination?and?prophylactic?use?of?antibiotics?are?necessary?before?surgery.?
    Clinical and gene mutation analysis of paroxysmal exercise-induced dyskinesia in one family
    HU Shuxiang, LI Pei, WANG Yangdan, et al
    2020, 38(10):  765.  doi:10.3969/j.issn.1000-3606.2020.10.011
    Abstract ( 22 )   PDF (1416KB) ( 22 )  
    Objective? To explore the clinical manifestations and SLC2A1 gene mutation in paroxysmal exercise-induced dyskinesia?(PED).?Methods? The?clinical?data?of?the?proband?and?his?families?were?collected.?The?genomic?DNA?of?the?proband? was?sequenced?by?high-throughput?sequencing.?The?specific?coding?region?on?SLC2A1 ?gene?of?the?proband?and?his?families?were? amplified?by?polymerase?chain?reaction?and?verified?by?the?first-generation?sequencing.?Results? The?proband?was?an?11-yearold?male?who?developed?dyskinesia?after?exercising?at?the?age?of?8.?Gene?sequencing?showed?that?the?proband?had?heterozygous? variation?of?c.?940G>A?(p.?Gly314Ser)?in?exon?7?of?SLC2A1?gene.?It?was?confirmed?as?the?pathogenic?site?by?pathogenicity? analysis?according?to?the?guidelines?of?American?College?of?Medical?Genetics?and?Genomics?(ACMG).?The?younger?brother,?father, and aunt of?the?proband?all?had?the?same?heterozygous?mutation?as?the?proband.?The?younger?brother?of?the?proband?manifested?epilepsy.? His?father?and?aunt?also?manifested?PED.?Conclusion The SLC2A1?gene?mutation?and?genetic?characteristics?of?the?family?were? clarified,?and?the?newly?discovered?mutation?site?of?c.?940G>A?(p.?Gly314Ser)?enriched?the?SLC2A1 gene mutation spectrum.
    The oral-facial-digital type Ⅰsyndrome: a case report and literature review
    BAO Lisha, LI Jing, LIU Fang
    2020, 38(10):  769.  doi:10.3969/j.issn.1000-3606.2020.10.012
    Abstract ( 18 )   PDF (1729KB) ( 15 )  
    Objective? To?explore?the?clinical?and?genetic?variation?characteristics?of?the?oral-facial-digital?type?I syndrome. Method? The clinical data and gene test results of oral-facial-digital type I?syndrome?in?a?child?were?retrospectively?analyzed,?and? the?related?literature?was?reviewed.?Results? The?girl?was?admitted?to?the?hospital?2?days?after?birth?due?to?weak?suck?and?congenital? cleft?palate.?She?presented?a?distinctive?facial?appearance?such?as?frontal?bossing,?hypertelorism,?epicanthic?folds,?a?micro?chin,? low-set?ears,?cleft?palate,?multi-lobulated?tongue?(two?lobes),?tongue?hamartoma,?thick?alveolar?ridges,?facial?asymmetry?and?toe? deformity.?Genomic?sequencing?and?bioinformatics?analysis?showed?a?heterozygous?mutation,?c.312?+?2T>A?(thymine?>?adenine),? in intron 3 of OFD1 gene on the X chromosome. Conclusion? The?child?was?diagnosed?with?oral-facial-digital?syndrome,?and?the? OFD1?gene?mutation?spectrum?was?expanded.
    Diagnosis and treatment of biotinase deficiency with manifestations of wheezing and psychomotor retardation in a case
    XIE Lina, MAO Yingying, CHEN Qian, et al
    2020, 38(10):  773.  doi:10.3969/j.issn.1000-3606.2020.10.013
    Abstract ( 20 )   PDF (1356KB) ( 22 )  
    Objective To?explore?the?clinical?characteristics,?diagnosis?and?treatment?of?biotinidase?deficiency?(BTDD).? Method? The?clinical?data?of?BTDD?caused?by?biotinidase?gene?mutation?in?a?child?was?analyzed?retrospectively,?and?the? literature?was?reviewed.?Results? A?13-month-old?boy?had?onset?at?8?months?after?birth.?He?presented?with?recurrent?wheezing,? gross?motor?development?regression,?refractory?metabolic?acidosis?combined?with?compensatory?respiratory?alkalosis.?Urine? organic?acid?analysis?showed?that?the?levels?of?lactic?acid,?ketone?bodies,?succinic?acid,?fumaric?acid,?2.3DH2MB,?3meglutarconate,?and?malic?acid?were?increased.?The?activity?of?biotinidase?decreased?significantly.?The?whole-exome?gene?test? revealed?that?the?child?had?a?homozygous?variant?c.1493dupT?in?the?BTD?gene,?which?came?from?both?his?parents?with?normal? phenotype,?and?it?was?a?pathogenic?variant.?He?was?confirmed?with?the?diagnosis?of?BTDD.?The?wheezing?symptoms?in?the?child? were?relieved?within?a?few?hours?after?biotin?supplementation.?Conclusion? Children?with?suspected?BTDD?should?be?tested?by? hematuria?tandem?mass?spectrometry?as?soon?as?possible.?The?tests?for?biotinidase?activity?and?gene?should?be?improved.
    Cohen syndrome caused by compound heterozygous variation in VPS13B gene: a case report and literature review
    CAO Yuhong, ZHANG Guangyun, CAO Kaifang, et al
    2020, 38(10):  777.  doi:10.3969/j.issn.1000-3606.2020.10.014
    Abstract ( 21 )   PDF (1485KB) ( 18 )  
    Objective? To?explore?the?clinical?and?genetic?variation?characteristics?of?Cohen?syndrome.?Methods The clinical?data?and?molecular?genetic?test?results?of?Cohen?syndrome?in?a?child?were?retrospectively?analyzed,?and?the?related? literature?was?reviewed.?Results? A?1-year-?and?3-month-old?boy?visited?for?psychomotor?retardation.?He?presented?with?thick? hair,?hypertelorism,?down-slanting?palpebral?fissures,?short?philtrum,?a?short?upper?lip,?hyperlinear?and?single?transverse?palmar? creases,?joint?hypermobility,?hypotonia?and?neutropenia.?Brain?magnetic?resonance?imaging?showed?bilateral?ventricles?enlarged? and?extracerebral?spaces?widened.?Gene?detection?showed?compound?heterozygous?variants?of?c.3863delC?(p.T1288fs)?and? c.5082delT?(p.S1694fs)?in?VPS13B?gene,?which?came?from?parents?with?normal?phenotype.?The?variation?was?predicted?to?be? pathogenic?by?related?software,?and?they?have?not?been?reported.?Conclusions? The?child?was?diagnosed?with?Cohen?syndrome,? and the VPS13B?gene?variant?spectrum?in?Cohen?syndrome?patients?was?expanded.
    Height growth retardation in a child with acute myeloid leukemia caused by tyrosine kinase inhibitor: a case report and literature review
    ZHENG Fangyuan, ZHANG Leping
    2020, 38(10):  781.  doi:10.3969/j.issn.1000-3606.2020.10.015
    Abstract ( 13 )   PDF (1654KB) ( 11 )  
     Objective To?explore?the?effect?of?tyrosine?kinase?inhibitor?on?height?growth?in?children?with?acute?myeloid? leukemia. Method? The?clinical?data?of?a?child?with?height?growth?retardation?caused?by?tyrosine?kinase?inhibitor?were? retrospectively?analyzed,?and?the?relevant?review?was?reviewed.?Results? The?female?child?had?a?fraternal?twin?sister?with?similar? body?weight?at?birth.?At?the?age?of?19?months,?the?child?was?diagnosed?of?acute?myeloid?leukemia?by?clinical,?blood?routine,?bone? marrow?morphology,?immunology,?molecular, ?and?genetic?genetics.?Genetic?detection?showed?CBFβ-MYH11?fusion?gene?(531.8%)? and?positive?c-kitD419-L42 1delins WN,?and?the?child?received?routine?chemotherapy.?At?that?time,?the?height?of?the?child?and?her? sibling?were?both?at?the?P90?of?the?growth?curve?of?the?same?age?and?sex?in?China.?The?child’s?bone?marrow?was?completely?relieved? after?induction?chemotherapy,?but?the?CBF -MyH11?gene?did?not?turn?negative.?After?the?consolidation?chemotherapy,?the?treatment? with?imatinib?was?added?and?the?gene?turned?negative,?but?the?child?showed?slower?growth?in?height?(from?P90 to P75).?After?the? cessation?of?imatinib,?the?growth?rate?of?height?recovered.?However,?due?to?intermittent?positive?of?CBFβ-MYH11?gene,?imatinib? was?added,?and?the?height?growth?was?reduced.?With?dasatinib?to?replace?imatinib,?the?increase?in?height?was?still?slowed?down.?At?9? years?and?10?months?of?the?follow-up,?the?height?of?the?child?was?134?cm?at?P10~P25,?while?her?sibling?sister?was?146?cm,?still?at?P90. Conclusion? Tyrosine?kinase?inhibitors?can?cause?height?growth?retardation?in?acute?myeloid?leukemia?child.
    Glucose-6-phosphate isomerase deficiency caused by GPI gene mutation: a case report and literature review
    HUANG Peng, TANG Li, WANG Aiping, et al
    2020, 38(10):  785.  doi:10.3969/j.issn.1000-3606.2020.10.016
    Abstract ( 22 )   PDF (1470KB) ( 23 )  
    Objective To explore the clinical characteristics and pathogenic genes of glucose-6-phosphate isomerase (GPI)?deficiency.?Method? The?clinical?data?of?GPI?deficiency?in?a?child?was?retrospectively?analyzed,?and?the?related?literature? was?reviewed.?Results? A?4-year-?and?3-month-old?boy?suffered?from?repeated?anemia?and?jaundice?since?birth,?accompanied? by?hepatosplenomegaly,?knee?joint?pain?and?gross?motor?development?retardation.?No?abnormality?was?found?in?G6PD?enzyme,? pyruvate?kinase,?hemoglobin?electrophoresis,?direct?Coombs?test,?erythrocyte?fragility?and?bone?marrow?cytological?examination.? Knee?joint?MRI?showed?a?small?amount?of?fluid?and?synovitis?in?both?knee?joints.?Whole?exome?sequencing?showed?that?there?was? a?homozygous?missense?mutation,?c.553T>A?(F185I),?in?exon?6?of?the?GPI?gene.?Sanger?sequencing?verified?that?they?were?from? their?parents?and?it?was?a?new?mutation?not?reported?before.?The?mutation?was?pathogenic.?Conclusion? GPI?deficiency?is?a?rare? autosomal?recessive?genetic?disease,?and?early?genetic?testing?can?assist?in?the?diagnosis.
    Status and progress of research in biomarkers for the diagnosis of Kawasaki disease
    WANG Liang, SI Ping
    2020, 38(10):  789.  doi:10.3969/j.issn.1000-3606.2020.10.017
    Abstract ( 20 )   PDF (1201KB) ( 18 )  
    Kawasaki?disease?(KD)?is?an?acute?febrile?and?rash?disease?with?systemic?vasculitis?as?the?main?pathological? change.?The?coronary?artery?lesion?(CAL)?is?the?most?serious?complication?of?KD.?KD?has?the?characteristics?of?seasonality,? regionality,?self-limitation?and?high?incidence?in?infants?and?young?children.?Early?administration?of?intravenous?immunoglobulin? (IVIG)?can?prevent?the?occurrence?of?CAL?in?most?children.?However,?some?children?are?still?unresponsive?to?IVIG,?and?the? incidence?of?CAL?is?higher.?Therefore,?early?diagnosis?of?KD?is?of?great?significance?for?reducing?CAL?and?improving?the?life? quality?of?KD?children.?This?paper?reviews?the?current?status?and?progress?of?related?research.
    Application and prospect of gene therapy for rare diseases
    GUI Yiting, LI Qiang, GUI Yonghao
    2020, 38(10):  794.  doi:10.3969/j.issn.1000-3606.2020.10.018
    Abstract ( 21 )   PDF (1199KB) ( 37 )  
    The?incidence?of?rare?diseases?is?extremely?low,?but?most?of?them?are?serious?and?tend?to?occur?in?childhood.? Mostly?they?are?caused?by?genetic?mutations.?Due?to?the?small?number?of?patients?and?low?market?demand,?the?research?and? development?cost?of?rare?disease?drugs?is?very?high,?and?only?less?than?1%?of?rare?diseases?have?drugs?available?for?treatment.? With?the?advancement?of?genetic?diagnosis?technology,?gene?therapy?by?virtue?of?its?"one-time?complete?cure"?feature?has? brought?hope?to?patients?with?hereditary?rare?diseases.?This?article?reviews?the?current?status?of?gene?therapy?for?rare?diseases,?and? discusses?the?application?and?development?of?traditional?gene?delivery?technologies?and?gene?editing?technologies?represented?by? CRISPR-Cas9?in?rare?diseases.
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JIANG Tao, CHEN Weijian, OUYANG Wenxian, TANG Yanfang, YUAN Heli, LI Shuangjie
. 2016 Vol. 34 (1): 16- doi: 10.3969 j.issn.1000-3606.2016.01.005
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HAO Xiaojing, AN Shuhua, LI Jinying, LI Quanheng
. 2016 Vol. 34 (2): 97- doi: 10.3969 j.issn.1000-3606.2016.02.004
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XU Meng, HUANG Min, SHEN Jie, XIAO Tingting, WANG Jianyi, HUANG Yujuan
. 2016 Vol. 34 (3): 192- doi: 10.3969 j.issn.1000-3606.2016.03.009
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WU Su, WANG Sumei, ZHU Ziyang, GU Wei, NI Shining,SHI Xing, LIU Qianqi
. 2015 Vol. 33 (8): 730- doi: 10.3969 j.issn.1000-3606.2015.08.012
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LONG Zhi
. 2015 Vol. 33 (6): 592- doi: 10.3969 j.issn.1000-3606.2015.06.023
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LONG Xingjiang, JIN Lin
. 2015 Vol. 33 (5): 490- doi: 10.3969 j.issn.1000-3606.2015.05.023
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. 2015 Vol. 33 (6): 525- doi: 10.3969 j.issn.1000-3606.2015.06.006
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. 2015 Vol. 33 (5): 405- doi: doi:10.3969 j.issn.1000-3606.2015.05.002
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. 2015 Vol. 33 (6): 597- doi: 10.3969 j.issn.1000-3606.2015.06.024
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Clinical features and outcomes of 78 children with non-Hodgkin lymphoma
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. 2015 Vol. 33 (8): 715- doi: 10.3969 j.issn.1000-3606.2015.08.009
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Related factors analysis of obstructive hydrocephalus secondary to intracranial hemorrhage in premature infants
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. 2015 Vol. 33 (4): 319- doi: 10.3969 j.issn.1000-3606.2015.04.006
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Analysis of disease spectrum in Epstein-Barr virus infected children in Zhongshan 
REN Wei, LONG Xiaoling, LIU Yuling, FU Simao
. 2015 Vol. 33 (2): 164- doi: 10.3969 j.issn.1000-3606.2015.02.016
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Systematic review of clinical guidelines for Guillain-Barré syndrome in children
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. 2014 Vol. 32 (7): 686- doi: 10.3969 j.issn.1000-3606.2014.07.022
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Interpretation of the guideline for clinical practice of nutrition support in Chinese neonates
ZHUANG Siqi
. 2014 Vol. 32 (9): 801- doi: 10.3969 j.issn.1000-3606.2014.09.001
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The research progress of galactose-deficient IgA1 in the related kidney diseases    
Reviewer: Zhang Yuheng,Reviser: Gao Jin 
. 2014 Vol. 32 (5): 489-493
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. 2015 Vol. 33 (3): 205- doi: 10.3969j.issn.1000-3606.2015.03.002
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