ABSTRACT
Objective:To analyze the clinical characteristics of pulmonary vein stenosis (PVS) in children, and to explore its treatment and prognostic factors.Methods:The clinical data of 19 children with PVS treated in Beijing Children′s Hospital, Capital Medical University from October 2016 to March 2022 were analyzed retrospectively.There were 16 males and 3 females.The median age at diagnosis was (2.81±1.95) years.A descriptive analysis of clinical characteristics of children was made.Results:Of the 19 children, 14 cases (73.7%) had primary PVS and 5 cases (26.3%) had secondary PVS after surgery of anomalous pulmonary venous connection (APVC). Thirteen children (68.4%) had hemoptysis.In the hemoptysis children, 5 cases had life-threatening massive hemoptysis, and 11 cases (57.9%) had a history of recurrent respiratory tract infection or pneumonia.Other manifestations of hemoptysis included failure to thrive (6 cases), cyanosis (5 cases), and dyspnea (3 cases). Complications were pulmonary hypertension (6 cases) and right heart failure (3 cases). There were 16 cases (84.2%) of unilateral PVS and 3 cases of bilateral PVS.Interlobular septal thickening, grid shadow and ground glass opacities were found on CT of all PVS cases.Ten cases underwent surgery, and 2 cases of them received angioplasty, but restenosis occurred in both of them.Eight children underwent pulmonary lobectomy, and their clinical symptoms were all relieved after operation.Nine patients were treated conservatively, and 3 cases of them died of bilateral PVS secondary to APVC.The remaining 6 alive cases still had intermittent clinical symptoms during follow-up.Conclusions:Hemoptysis and recurrent respiratory tract infection are the main clinical manifestations of PVS in children, and life-threatening massive hemoptysis can occur.Lobectomy is an effective treatment for unilateral PVS.The prognosis of secondary PVS after APVC is poorer and its mortality is higher, compared with primary PVS.
ABSTRACT
Niemann-Pick disease type C is a lipid storage disorder associated with impaired intracellular cholesterol trafficking, caused by mutations of either NPC1 or NPC2 genes.According to the age at onset of symptoms, it is divided into 5 categories, including neonatal, early-infantile, late-infantile, juvenile and adult type.There are differences in clinical manifestations and prognoses among each category.The characteristic clinical manifestations are hepatosplenomegaly, lung infiltration, vertical supranuclear gaze palsy and gelastic cataplexy.The definite diagnosis requires demonstration of unesterified cholesterol accumulated in fibroblasts cultured from skin biopsies with filipin staining and(or) of pathogenic mutation of NPC1/NPC2 genes.There is no effective treatment for this disease yet, therefore the overall prognosis is still poor.Miglustat can delay onset of the neurological symptoms, and prolong survival of partial patients.
ABSTRACT
Objective:To summarize the clinical features of children with autosomal dominant hyper-IgE syndrome (AD-HIES) and the differential diagnosis of hyper-IgE syndrome and allergic diseases as well.Methods:All clinical data, including general information, clinical features, and genetic changes, from 7 children with AD-HIES who were diagnosed in Beijing Children′s Hospital Affiliated to Capital Medical University from April 2016 to June 2020 were analyzed retrospectively.The diagnostic criteria are based on the National Institutes of Health′s (NIH)′s hyper-IgE syndrome score and combined with the results of gene detection, shown as follows: (1) NIH score over 40, with signal transducer and activator of transcription 3 gene ( STAT3) pathogenic mutation; (2) NIH score between 20 and 40, with reported STAT3 pathogenic mutation; (3) NIH score less than 20 points was excluded. Results:There were 3 males and 4 females.The onset age of 7 cases was within 2 months after birth, and the mean age at diagnosis was 3 years old.All seven cases had recurrent skin or lung infections, with 4 cases having skin and lung infections, 1 case of skin abscesses at the BCG vaccination site, and 2 cases without skin infection suffering from recurrent pneumonia.The mean onset age of skin abscess in 5 cases was 1.5 years, and pus culture of 3 cases were Staphylococcus aureus.Four cases developed bullae and 6 cases had lung infections.Four cases had otitis media, and oral thrush was seen in 4 cases.One case of skin and lung infection developed liver abscess and sepsis.Seven cases had eczema, which was disco-vered in the neonatal period for 6 cases.Four cases had the symptoms of eczema for the first visit.Two cases had food allergy, and 1 case had recurrent wheezing within 1 year old.The serum IgE level and blood eosinophil count in 7 children were elevated.All children had heterozygous pathogenic mutations in STAT3.Six patients had de novo mutations.There were 6 different mutation sites.The 4 mutation sites were reported: c.1145G>A, c.1144C>T, and c. 1699A>G were missense mutations, and c. 1139+ 5G>A was splicing mutation.Two mutation sites had not been reported: c.1031A>C was missense mutation, and c. 2050G>T was nonsense mutation.The pathogenic grade of them were likely pathogenic, and the NIH score of 2 cases were above 40 score, which was consistent with the clinical diagnosis of hyper-IgE syndrome. Conclusions:Eczema is a common and early clinical manifestation of hyper-IgE syndrome, along with elevated IgE levels and eosinophil counts that need to be differentiated from allergic diseases.On the contrary, it often had recurrent skin abscesses or pneumonia, which was prone to bullae.The clinical manifestations of young children were atypical, and genetic testing was helpful for early diagnosis.
ABSTRACT
Objective To explore the application value of treatment-related markers PD-L1, PD-L2, CD30, CD23, BCL-2, BCL-6, MUM1 and GATA3 in the diagnosis and prognostic evaluation of primary mediastinal B-cell lymphoma(PMBL). Methods A retrospective study was conducted on 34 patients diagnosed with PMBL, and 31 patients with DLBCL-NOS which was not primary in the mediastinum were taken as control group. The expressions of 8 proteins were detected by IHC staining. Results The median percentages of tumor cells with PD-L1, PD-L2 and CD30 expression in PMBL group were 70% (30%, 90%), 25% (0, 70%) and 17.5% (0, 60%) respectively, which were significantly higher than those in the DLBCL-NOS group (P < 0.05). The positive rates of CD30 and CD23 in PMBL group were 61.76% (21/34) and 76.47% (26/34) respectively, significantly different with those in the DLBCL-NOS group (P=0.000). The survival curve of PMBL patients with CD30 or BCL-6 expression showed a trend of poor prognosis, despite the P value was > 0.05. Conclusion The high expression levels of PD-L1, PD-L2 and CD30 in PMBL are helpful to accurately identify more patients who may respond to immune or targeted therapy. Immunohistochemical staining of PD-L1, PD-L2, CD30 and CD23 is helpful for the differential diagnosis of PMBL and DLBCL-NOS. As candidate prognostic indicators of PMBL, CD30 and BCL-6 should be further studied in a larger number of samples.
ABSTRACT
Objective:To investigate the etiology of pleural effusion in hospitalized children in Beijing Children′s Hospital.Methods:Clinical information of children with pleural effusion admitted to Beijing Children′s Hospital Affiliated to Capital Medical University from January 2016 to December 2018 was retrospectively analyzed.According to the etiology, the children were divided into infection group (parapneumonic pleural effusion, tuberculous pleurisy and empyema) and non infection group.According to the age, the children were further divided into ≤ 3 years old, >3-7 years old and > 7 years old groups.Classification of statistics was performed, and the etiology of pleural effusion were retrospectively analyzed.Results:Among the 1 165 children with pleural effusion, 746 cases(64.0%) were infected with pleural effusion, 697 cases (697/746, 93.4%) of who were parapneumonic effusion.In patients with parapneumonic effusion, 457 cases (61.3%) had Mycoplasma pneumonia (MP) infection.Infectious pleural effusion was more common in children >7 years old(339/479 cases, 70.8%), while non-infectious pleural effusion was prevalent in children under 3 years old(188/324 cases, 58.0%). The difference was statistically significant ( χ2=96.33, P<0.05). Among the patients with non-infectious pleural effusion, 239 cases (239/419 cases, 57.0%) had multi-system diseases and 97 cases (97/419 cases, 23.2%) had malignant pleural effusion.All the 18 deaths were non-infectious pleural effusion. Conclusions:The leading reason for pleural effusion in children is infection.The most prevalent symptom is parapneumonic effusion, which is mainly caused by MP.
ABSTRACT
The clinical features, imaging findings and pathological manifestations of children diagnosed with acute interstitial pneumonia (AIP) in the Department of Respiratory, Beijing Children′s Hospital, Capital Medical University from January 2016 to December 2017 were retrospectively analyzed.One patient was a girl aged 8 years and 4 months, and the other patient was a boy aged 1 year and 11 months.Both of them had cough and tachypnea for 20 days with transient afebrile.They were diagnosed as Mycoplasma pneumonia and viral pneumonia, respectively, in other hospitals, but the treatment effect was poor.The physical examination results at admission suggested tachypnea, three depression sign (+ ), cyanosis of lips and fingers, no acropachia, and no rales.No abnormality in cardio abdominal and nervous system was detected.Both patients had hypoxemia.The partial pressure of carbon dioxide was normal.The investigations of pathogen were negative.Autoantibody and antineutrophil cytoplasmic antibodies were negative.High resolution CT (HRCT) showed reduced light transmittance of both lungs (especially the lower lung), diffuse bilateral ground glass opacities, consolidation, and traction associated bronchiectasis.The pulmonary histopathology showed di-ffuse alveolar damage, thickened alveolar septum and fibrous tissue in the alveolar cavity.The hyaline membrane was observed in the girl patient.Both patients were treated with corticosteroid.The girl patient had nasal cannula oxygenation, while the boy patient received nasal continuous positive airway pressure (NCPAP) support.They were followed up with improvement.The course of corticosteroid was taped for 8 months and 1 year in the girl patient and boy patient, respectively.After treatment, lung lesions were basically absorbed.
ABSTRACT
Objective:To understand the clinical characteristics of empyema caused by Streptococcus pneumoniae in children. Methods:The clinical manifestations, imaging characteristics, treatment and prognosis of 49 children with pneumococcal empyema admitted to Beijing Children′s Hospital, Capital Medical University from March 2007 to February 2018 were retrospectively analyzed.Results:Among the 49 children, 26 were male and 23 were female, with a median age of 2.63 years old.All the cases had cough and fever, 46 cases of them had high fever, 2 cases had moderate fever and 1 case had ultrahyperpyrexia.The course of disease before admission was 2-90 days, with a median of 10 days.All cases had toxic symptoms and signs of pleural effusion; 26 patients had dyspnea; 23 patients had moist rales, while 8 cases of whom had wheezing sounds.Eleven cases had extrapulmonary complications, including purulent meningitis in 6 cases, purulent pericarditis 1 case, 2 cases of hemophagocytic syndrome and hemolytic uremic syndrome respectively.The medians of leukocytes in the whole blood, white blood cells in pleural effusion and multinuclear cell percentage were 26.97×10 9/L, 32×10 9/L and 0.85, respectively.The average C-reactive protein (CRP) was 177.79 mg/L.The drug sensitivity test of Streptococcus pneumoniae showed that 68.89% strains were insensitive to Penicillin and all strains were resistant against Erythromycin.Chest image showed bilateral consolidation in 32 cases and pneumothorax in 31 cases.Besides antimicrobial therapy, 34 patients were treated with chest drainage, and 7 cases underwent surgery.Ten of the 49 cases were treated with nasal continuous positive airway pressure, tracheal intubated was used in 6 cases, and 1 case was given cardiopulmonary resuscitation.Forty-five cases discharged with improvement, 3 cases were not cured and 1 case died. Conclusions:Pneumococcal empyema is more common in children under 5 years old.Children with pneumococcal empyema usually have poor mental status, high fever, cough accompanied by dyspnea, high peripheral white blood cells and CRP.Their radiographic findings are usually serious, and the insensitive rate to Penicillin is high.The main treatment is anti-infection therapy and closed thoracic drainage.The prognosis of most patients is good, but there are still dead cases.
ABSTRACT
Objective@#To investigate the impact of ultrasonic assisted rapid processing technique combined with the environment friendly reagent (which can be utilized in fixing,dehydrating and clearing) on processing tumor biopsy specimens and the subsequent target detection.@*Methods@#Postoperative tissue samples of 56 cases of breast cancer, colorectal cancer, lung cancer, stomach cancer, liver mass, bladder mass, uterus mass were obtained at the National Cancer Center, Cancer Hospital, Chinese Academy of Medical Sciences from February to April, 2017. Three specimens ranging in size from 1 to 3 mm were collected from each sample, and were separated into control group (traditional tissue-processing method); experiment group 1 (3.7% neutral buffered formaldehyde fixation, composite environment friendly reagent and ultrasonic assisted rapid processing) and experimental group 2 (composite environment friendly reagent direct fixation, higher temperature and longer time for tissue processing). Two pathologists blinded to the experimental groups scored totally the nuclear, cytoplasmic, and membrane staining of 43 cases of immunohistochemistry (IHC), four HER2 fluorescence in situ hybridization (FISH), 20 extracted DNA quality and four EGFR gene mutation detection in lung adenocarcinoma; the results were compared with the control group.@*Results@#There was no difference in the IHC staining, HER2 FISH, the DNA quality, and EGFR genetic results between experimental group 1 and control group. For experiment group 2, comparing results of IHC staining, HER2 FISH and the quality of DNA, there was no obvious difference from control group and experiment group 1, but might show an increase in the background of IHC staining. The difference between the treatment temperature and time in the experimental group 2 did not affect the results of the gene mutation detection.@*Conclusions@#Environment freindly reagent and ultrasonic assisted rapid processing equipment could be used for rapid processing and diagnosis for tumor biopsies. Using complex environment-friendly reagents supplement fixation, higher treatment temperature and longer treatment time do not significantly affect the IHC, FISH and molecular detection accuracy.
ABSTRACT
Objective@#To analyze the practical value of D-dimer in diseases condition judgment and prognosis evaluation of childhood Mycoplasma pneumoniae pneumonia (MPP).@*Methods@#Retrospective analysis was performed on clinical data of 606 MPP at Department of Respiratory, Beijing Children′s Hospital, Capital Medical University from January 2009 to July 2017, and the subjects were divided a severe group (298 cases) and a moderate group (308 cases) according to severity.By comparing clinical characteristics, laboratory tests and imaging findings, multivariate Logistic regression analysis for significant single factors was accomplished, which was to find out the independent factors affecting the severity of childhood MPP in acute phase.Receiver operating characteristic (ROC) curves were drawn in the area under the curve (AUC) and the diagnosis threshold value was calculated, which could be used to judge the predicators affecting the severity judgment of childhood MPP in acute phase.And the prognosis was judged according to the convalescent fiberoptic bronchoscopic indicators in recovery phase.@*Results@#The levels of white blood cells (WBC)[(10.25±3.76)×109/L], neutrophil(Neu)[(7.31±3.76)×109/L], platelet (PLT)[(334.66±143.80)×109/L], C-reactive protein(CRP)[(69.00±80.50) mg/L], erythrocyte sedimentation (ESR)[(39.38±26.29) mm/1h], lactate dehydrogenase (LDH)[(436.61±248.96) IU/L], fibrinogen(Fib)[(4.61±1.36) g/L] and D-dimer [(2.09±1.66) mg/L]in the severe group were higher than those in the moderate group[(7.55±3.14)×109/L, (4.77±2.54)×109/L, (291.60±109.19)×109/L, (23.40±42.50) mg/L, (30.25±16.18) mm/1 h, (318.05±116.97) IU/L, (4.18±0.88) g, (0.58±0.72) mg/L], and the differences were statistically significant (all P<0.01). The levels of Neu, PLT, CRP, LDH and D-dimer were independent and relevant factors for the severity of acute MPP.The area under each ROC curve was Neu 0.719, PLT 0.592, LDH 0.675, CRP 0.749, D-dimer 0.848, and each diagnostic threshold was 6.5× 109/L, 265.5×109/L, 417.5 IU/L, 28.9 mg/L, 0.73 mg/L, respectively.Obviously, D-dimer had the highest sensitivity and specificity for the severe MPP.There was a significant difference in D-dimer level between the endobronchial inflammation group and the subbronchial stenosis, poor ventilation and occlusion group of fiberoptic bronchoscopy [(1.11±0.26) mg/L vs.(2.14±1.84) mg/L, t=-5.870, P<0.05].@*Conclusion@#D-dimer levels can be used as one of the most sensitive indicator for determining the severity and prognosis of MPP.
ABSTRACT
Objective To analyze the practical value of D-dimer in diseases condition judgment and prognosis evaluation of childhood Mycoplasma pneumoniae pneumonia (MPP).Methods Retrospective analysis was performed on clinical data of 606 MPP at Department of Respiratory,Beijing Children's Hospital,Capital Medical University from January 2009 to July 2017,and the subjects were divided a severe group (298 cases) and a moderate group (308 cases) according to severity.By comparing clinical characteristics,laboratory tests and imaging findings,multivariate Logistic regression analysis for significant single factors was accomplished,which was to find out the independent factors affecting the severity of childhood MPP in acute phase.Receiver operating characteristic (ROC) curves were drawn in the area under the curve (AUC) and the diagnosis threshold value was calculated,which could be used to judge the predicators affecting the severity judgment of childhood MPP in acute phase.And the prognosis was judged according to the convalescent fiberoptic bronchoscopic indicators in recovery phase.Results The levels of white blood cells (WBC) [(10.25 ± 3.76) × 109/L],neutrophil (Neu) [(7.31 ± 3.76) × 109/L],platelet (PLT) [(334.66 ± 143.80) × 109/L],C-reactive protein (CRP) [(69.00 ± 80.50) mg/L],erythrocyte sedimentation (ESR) [(39.38 ± 26.29) mm/1 h],lactate dehydrogenase (LDH) [(436.61 ± 248.96) IU/L],fibrinogen (Fib) [(4.61 ± 1.36) g/L] and D-dimer [(2.09 ± 1.66) mg/L] in the severe group were higher than those in the moderate group [(7.55 ±3.14) × 109/L,(4.77 ±2.54) × 109/L,(291.60 ± 109.19) × 109/L,(23.40 ±42.50) mg/L,(30.25 ± 16.18) mm/1 h,(318.05 ± 116.97) IU/L,(4.18 ±0.88) g,(0.58 ±0.72) mg/L],and the differences were statistically significant (all P ＜ 0.01).The levels of Neu,PLT,CRP,LDH and D-dimer were independent and relevant factors for the severity of acute MPP.The area under each ROC curve was Neu 0.719,PLT 0.592,LDH 0.675,CRP 0.749,D-dimer 0.848,and each diagnostic threshold was 6.5 × 109/L,265.5 × 109/L,417.5 IU/L,28.9 mg/L,0.73 mg/L,respectively.Obviously,D-dimer had the highest sensitivity and specificity for the severe MPP.There was a significant difference in D-dimer level between the endobronchial inflammation group and the subbronchial stenosis,poor ventilation and occlusion group of fiberoptic bronchoscopy [(1.11 ± 0.26) mg/L vs.(2.14 ± 1.84) mg/L,t =-5.870,P ＜ 0.05].Conclusion D-dimer levels can be used as one of the most sensitive indicator for determining the severity and prognosis of MPP.
ABSTRACT
Objective@#To analyze the expression of programmed death ligand 1 (PD-L1) in patients with advanced lung adenocarcinoma and the consistency of four PD-L1 immunohistochemical detection platforms, with an aim of establishing baseline information to predict and select patients for programmed death 1 (PD-1)/PD-L1 immune inhibitor therapy. @*Methods@#This was a multi-center retrospective study, collecting totally 57 advanced lung adenocarcinoma biopsy specimens from four centers from August 2017 to December 2017.The mean age of 57 patients was 59 (range 34-81) years, and 29 cases were male, 28 cases were female. Four PD-L1 immunohistochemical stains were done for each case, including 22C3 (Dako), 28-8 (Abcam), SP263 (Ventana), and SP142 (Ventana). Among them, 22C3 staining was done using Dako autostainer, and for the other three antibodies, Ventana Ultraview detection system and autostainer was used. The immunohistochemical slides were read by two trained histopathologists in a double-blinded way, and the percentage of PD-L1 positive tumor cells was assessed as <1%, 1%-24%, 25%-49% and more than 50%. @*Results@#The Dako 22C3 was used as the standard. There were eight cases in which the PD-L1 staining was more than 50% (14.0%, 8/57). The staining consistency of tumor cells was higher in 22C3, 28-8 and SP263 (ρ=0.729-0.809). The two scoring doctors had a high degree of concordance in PD-L1 positive tumor cells (ρ=0.707-0.896), and this was most noticeable in 22C3 and SP263. @*Conclusions@#22C3, 28-8 and SP263 show high consistency in tumor cell staining. The study can provide an effective basis for screening for potential patient population that may benefit from immunotherapy.
ABSTRACT
Protracted bacterial bronchitis (PBB) is a major cause of chronic wet cough in children.PBB is a chronic and persistent bacterial infection of the conductive airway,and is increasingly considered to be an important disease in the world.PBB may be associated with upper airway cough syndrome and tracheobronchomalacia.In some cases of PBB,allergic rhinitis and sinusitis were reported.A total of 74％ were reported with tracheobronchomalacia.Adenovirus infection may be associated with PBB,and adenovirus infection may damage the mucosa and cause chronic inflammation in the airway.Gastroesophageal reflux or inhalation may also damage the airway mucosa,or may be the cause of PBB.In the flexible bronchoscopy,increased bronchial secretions and bronchial wall edema were found in the patient with the PBB.The culture of bronchoalveolar lavage is mainly Haemophilus influenzae and Moraxella catarrhalis and Streptococcus pneumoniae.PBB diagnosis is not specific,parents often complain of wheezing,and may be misdiagnosed as bronchial asthma,and gastroesophageal reflux,the PBB should be distinguished from the persistent asthma.PBB may be a precursor of the chronic suppurative pulmonary disease and bronchiectasis.Recurrent PBB may develop to the bronchiectasis.Primary cilia dysfunction and cystic fibrosis is the causes of chronic wet cough in children.Prior to the bronchiectasis in the early stages,it's need to test the sweat chloride and the gene mutation to identify the cystic fibrosis or primary cilia dysfunction from PBB.Therefore,when the PBB recurrent or poor response to antibiotic,the differential diagnosis of the PBB from the chronic suppurative pulmonary disease,bronchiectasis,primary cilia dysfunction and cystic fibrosis should be taken,it is also needed to identify the immune deficiency disease from PBB.
ABSTRACT
Objective To study the genetic mutation of surfactant dysfunction in children with interstitial lung disease.Methods The surfactant protein B (SFTPB),surfactant protein (SFTPC),ATP binding cassette transporter A3 (ABCA3) gene sequence detection were conducted for 26 patients with interstitial lung disease who were onset before 2 years old or without specific etiology after the biopsy during January 2012 to December 2017 in Beijing Children's Hospital Affiliated to Capital Medical University,then the result of gene sequence detection and the clinical data were analyzed.The method of gene analysis is PCR amplify and Sanger sequencing.Results (1) In total,4 cases of abnormal gene mutations had been found,of which 3 cases were pathogenic SFTPC gene mutations,such as c.218T ＞ C,IVS4,+ 1G ＞ C,c.115G ＞ T,1 case was ABCA3 compound heterozygous mutations,such as C.3913 T ＞ C and heterozygous deletion in Exon 13-18.(2)There were also 7 uncertain or suspected cases.Four cases were undefined pathogenic SFTPC mutations,such as c.406G ＞ C,IVS4,+ 12 G ＞ G,c.364T ＞ C,c.68G ＞ A.Three cases had been found with two ABCA3 heterozygous gene mutations,which were not confirmed by parents.The lung pathology of the patient with SFTPC (IVS4,+ 12 T ＞ G) and heterozygous ABCA3 (c.737C ＞ T)gene mutations was amyloidosis,and there was similar history in his family.(3) No pathogenic gene mutation was found in the 15 cases.No pathogenic SFTPB gene mutation was found in all the patient.Lung biopsy was performed in 2 cases of SFTPC c.115G ＞ T and ABCA3 compound heterozygous mutation,the lung tissue of this 2 cases were nonspecific interstitial pneumonia (NSIP).One case of SFTPC c.115G ＞ T had died at the age of 14 years old and 1 case of IVS4,+ 1G ＞ C had died at the age of 11 months old.Only 1 case of SFTPC c.218T ＞ C gene mutation with the similar family history,had improved significantly after glucocorticoid treatment,another case of ABCA3 compound heterozygous mutation was mildly improved after the glucocorticoid treatment.The chest CT/high resolution computed tomography displayed diffuse ground glass opacity in 4 cases,and cystic in 2 cases,all 2 cases with cystic were cases of SFTPC mutation and were dead.Conclusions The gene mutation of surfactant dysfunction is associated with interstitial lung disease in children.The pathology feature can be NSIP,and the prognosis may be poor in some cases,and the treatment of the corticosteroids may be effective in few case.
ABSTRACT
Interstitial lung disease (ILD),also known as the diffuse parenchymal lung diseases(DPLD),are a heterogeneous group of the chronic respiratory disorders with various causes.The etiology of the ILD in infants includes the surfactant dysfunction and immunodeficiency,which are mainly caused by single gene defects or mutations.The common surfactant dysfunction is caused by the mutation of surfactant protein B gene (SFTPB),surfactant protein C gene (SFTPC),adenosine triphosphate binding cassette transport A3 (ABCA3)gene and thyroid transcription factor 1 gene,can presented as the deadly neonatal respiratory distress syndrome(RDS),and the ILD in the children.Gene mutation of the granulocyte-macrophage colony stimulating factor receptor can lead to hereditary pulmonary alveolar proteinosis (PAP),and mucins 5 B gene,telomerase reverse transcriptase gene,telomerase RNA component gene were associated with adult pulmonary fibrosis.In recent years,it has been found that the mutation of some immune genes,such as STING,GATA2 and STAT5,which can lead to interstitial lung disease of children.With the development of gene technology,the more etiology of gene in the interstitial lung disease are diagnosed by the new technology.
ABSTRACT
Objective To explore the diagnosis and treatment of atypical severe combined immunodeficiency disease (SCID). Methods The clinical data of atypical SCID in 7 children with IL2RG,JAK3,and RAG1 mutations were reviewed and analyzed from September 2012 to June 2017. Results In 7 cases (6 males and 1 female), there were 5 infants, 1 toddler and 1 school-age child. Cases 2, 4, and 6 were classic SCID clinical phenotypes. Cases 1, 3, 5, 7 were atypical SCID clinical phenotypes. Case 6 were diagnosed with Omenn syndrome. Cases 2, 5 were classic SCID immune phenotypes, cases 1, 3, 4, 6, 7 were atypical SCID immune phenotypes, and case 1 had maternal chimera. The next generation sequencing indicated that case 1 had a compound heterozygous JAK3 mutation with c.3097-1G>A/c.946-950GCGGA>ACinsGGT.Cases 2,3,and 4 had IL2RG mutations,with c.865C>T/p.R289X,c.664C>T/R222C,52delG,respectively.Case 5 had JAK3 mutations with c.2150A>G/p.E717G and c.1915-2A>G.Sanger sequencing indicated that case 6 had a RAG1 mutation of complex heterozygosity with c.994C>T/p.R332X and c.1439G>A/p.S480N. Case 7 had homozygous RAG1 mutation with c.2095C>T/p.R699W.Conclusion Under certain conditions,gene mutation can lead to atypical clinical and/or immune phenotypic SCID.
ABSTRACT
Objective@#To investigate the expressions and clinical significances of paired box gene 2 (Pax2) and cyclin D1 protein in advanced ovarian serous carcinoma.@*Methods@#From January 2003 to December 2013, the pathologic tissues of 202 patients with advanced ovarian serous cancer (Ⅲ-Ⅳ) who underwent initial cytoreductive surgery were collected. The expressions of Pax2 and cyclin D1 protein were detected by immunohistochemistry in tissue microarray. The relationships of their expressions with the clinicopathological features and prognosis of the patients were analyzed.@*Results@#The positive rate of Pax2 protein expression of the 202 patients with ovarian serous adenocarcinoma was 24.8% (50/202) and that of cyclin D1 was 25.2% (51/202). The expressions of Pax2 and cyclin D1 were not significantly related with age, clinical stage and pathological grade of ovarian serous adenocarcinoma patients (P>0.05). The median overall survival (OS) time of Pax2-negative patients was 53 months and the progression-free survival (PFS) time was 29 months. The median OS time of Pax2-positive patients was 66 months and PFS time was 33 months, the OS of Pax2-negative patients was significant different from that of Pax2-positive patients (χ2=4.06, P=0.04). The median PFS time of Pax2-negative patients was not significant different from that of Pax2-positive patients (χ2=2.43, P=0.11). The median OS time of cyclin D1-negative patients was 62 months and PFS time was 30 months. The median OS time of cyclin D1-positive patients was 48 months and PFS time was 22 months. The median OS time of cyclin D1-negative patients was significantly different from that of cyclin D1-positive patients (χ2=4.71, P=0.03), while the median PFS time of cyclin D1-negative patients was marginally different from that of cyclin D1-positive patients (χ2=0.59, P=0.41). Multivariate analysis showed that the expression of Pax2 was an independent factor of the prognosis for patients with ovarian serous adenocarcinoma (RR=0.597, 95% CI 0.371-0.962, P<0.034).@*Conclusion@#The expressions of Pax2 and cyclin D1 are associated with the prognosis of patients with advanced ovarian serous adenocarcinoma while Pax2 is an independent prognostic factor.
ABSTRACT
Objective@#To analyze the clinical characteristics, diagnosis and treatment of bronchopulmonary foregut malformation(BPFM).@*Method@#The clinical manifestations, imaging findings and treatment of 8 patients with BPFM were analyzed retrospectively from January 2006 to May 2016 in Beijing Children′s Hospital.@*Result@#The age of children varied from 2 months to 7 years and 3 children were male while 5 female. Symptoms showed cough in 6 cases, fever in 4 cases, bucking when intaking of fluids or foods in 3 cases, tachypnea in 1 case, wheezing in 1 case, vomiting in 1 case, haematemesis in 1 case Pulmonary signs were decreased breath sounds in 4 cases, phlegm rale in 3 cases, shortness of breath in 2 cases, wheeze in 1 case, and retraction in 1 case. The upper gastrointestinal series showed abnormal fistulous tracts arising from the esophagus or the gastric fundus and extending into the mass in the lung. CT showed pulmonary sequestration and prompted the tube between lung and esophagus. Six children underwent pneumonectomy and esophageal fistula repair. They were discharged and their symptoms were improved. Two cases of children were discharged from a hospital without surgery.@*Conclusion@#Bronchopulmonary foregut malformation usually has its onset in early stage of life. The most common symptoms include recurrent pneumonia or bucking when intaking of fluids or foods. CT can demonstrate the bronchopulmonary sequestration and evaluate the communication with the gastrointestinal tract. The upper gastrointestinal series can demonstrate the abnormal tract directly. Pneumonectomy and esophageal fistula repair are the treatment of this disease.
ABSTRACT
Objective@#To explore the expressional differences between paired box genes 2(Pax2) and 8 (Pax8) protein in different kinds of epitheliums and tumors, and to investigate the clinicopathologic significance.@*Methods@#Expression levels of Pax2 and Pax8 protein were detected in 75 cases of different human epithelium tissues and 255 cases of different tumors on tissue microarray by immunohistochemistry.@*Results@#Pax2 and Pax8 selectively expressed in different tissues. The positive rates of Pax8 protein expressed in the normal epithelium of the thyroid, urinary system and female reproductive system were 100% (2/2), 60.0% (3/5) and 76.9% (10/13), respectively. The positive rates of Pax2 expressed in the epithelium tissues of urinary system and the female reproductive system were 40.0% (2/5) and 38.5% (5/13) respectively. However, the expression of Pax2 protein was not detected in the normal thyroid epithelium. The positive rate of Pax8 protein expressing in the epithelium of reproductive system was significantly higher than that of Pax2 protein (P<0.05). The tumors derived from different tissues also expressed different levels of protein Pax2 and Pax8. The positive rates of Pax8 in renal cell carcinoma, thyroid carcinoma and endometrial adenocarcinoma were 65.2% (15/23), 66.7% (10/15) and 80.0% (4/5), respectively. The positive rates of Pax2 in renal cell carcinoma, thyroid carcinoma and endometrial adenocarcinoma were 34.8% (8/23), 13.3% (2/15) and 20.0% (1/5), respectively. The positive rates of Pax8 protein expressed in renal cell carcinoma, thyroid carcinoma and endometrial adenocarcinoma were significantly higher than those of Pax2 protein (P<0.05). The positive rates of Pax8 in ovarian serous carcinoma, endometrial carcinoma and clear cell carcinoma were 92.9% (26/28), 81.8% (9/11) and 82.4% (14/17), respectively. The positive rates of Pax2 in ovarian serous carcinoma, endometrial carcinoma and clear cell carcinoma were 28.6% (8/28), 9.1% (1/11) and 17.6% (3/17), respectively. The positive rates of Pax8 protein expressed in ovarian serous carcinoma, endometrial carcinoma and clear cell carcinomawere significantly higher than those of Pax2 protein (P<0.05).@*Conclusions@#Pax2 and Pax8 are specifically expressed in female reproductive system and uritany system. However, the positive expression of Pax8 is superior to that of Pax2. The combined expression of Pax8 and Pax2 can be used in the differential diagnosis of epithelial tumors derived from different origins.
ABSTRACT
Objective To explore the clinical features of chronic granulomatous diseases and Mcleod syndrome caused by continuous X chromosome deletion. Methods The clinical data of two children diagnosed as chronic granulomatous disease and Mcleod syndrome by gene detection were retrospectively analyzed. Results Two males, 4 year 1 month and 1 year 9 month old, were both hospitalized due to persistent pulmonary infections. Both of them had a history of repeated severe infections and BCG vaccine associated lymphadenitis, and were diagnosed as X-linked chronic granulomatous disease for respiratory burst defects and deletion of all CYBB exons. Both of them had retarded motor development, and were diagnosed as DMD for detection of DMD gene exons and muscle speciifc promoter region and exon 1-2 deletion by MLPA. One case was found with obvious echinocytes, the other case showed whole exons deletion of XK gene. Both of them were diagnosed as Mcleod syndrome. Conclusion Continuous X chromosome deletion could lead to combination of Mcleod syndrome, DMD, and X-CGD, which may complicate the condition. Due to the lack of Kx antigen, repeated common blood transfusion can produce relative antibody, which lead to severe hemolytic crisis.
ABSTRACT
Vasculitis is divided into large,medium-sized,small vasculitis based on the size of the affect vessel.Pulmonary vasculitis may affect any vessel of the lung.It was pulmonary capillaritis if capillary vessels were involved.The common pulmonary vasculitis were granulomatosis polyangiitis,microscopic polyangiitis,allergic granulomatosis angitis,the less common pulmonary vasculitis were Schonlein-Henoch purpura,Takayasu'arteritis,Giant-cell arteritis,cryglobulinemia,polyarteritis nodosa,and Bechet'disease.The clinical features of the pulmonary vasculitis were alveolar hemorrhage,hemoptysis,anemia and pulmonary infiltration,other clinical manifestation were cough,fever,weight loss.The diagnosis of the pulmonary vasculitis was based on the clinical symptoms,signs and positive anti-neutrophil cytoplasmic antibodies or lung biopsy.Large vasculitis was diagnosised by the magnetic resonance imaging and colour Doppler ultrasonography.The glucocorticoid and immunosuppressant was used in the treatment of the vasculitis.