An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.

While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodeficiency, there have been rare reported instances of missense mutations of the IKBKG gene causing both Incontinentia Pigmenti (IP) and immunodeficiency in female patients. In this study, we described an atypical IP case in a 19-year-old girl, characterized by hyperpigmented and verrucous skin areas over the entire body. Remarkably, she experienced recurrent red papules whenever she had a feverish upper respiratory tract infection. Immunohistochemical staining unveiled a substantial accumulation of CD68+ macrophages alongside the TNF-α positive cells in the dermis tissue of new pustules, with increased apoptotic basal keratinocytes in the epidermis tissue of these lesions. Starting from the age of 8 years old, the patient suffered from severe and sustained chronic respiratory mucous membrane scar hyperplasia and occluded subglottic lumen. In addition to elevated erythrocyte sedimentation rate values, inflammatory cells were observed in the pathologic lesions of endobronchial biopsies and Bronchoalveolar Lavage Fluid (BALF) smear. Further histological analysis revealed a destructive bronchus epithelium integrity with extensive necrosis. Simultaneously, the patient experienced recurrent incomplete intestinal obstructions and lips contracture. The patient's BALF sample displayed an augmented profile of proinflammatory cytokines and chemokines, suggesting a potential link to systemic hyperinflammation, possibly underlying the pathogenic injuries affecting the subglottic, respiratory, and digestive systems. Furthermore, the patient presented with recurrent pneumonias and multiple warts accompanied by a T+BlowNKlow immunophenotype. Next generation sequencing showed that the patient carried a novel de novo germline heterozygous missense mutation in the IKBKG gene (c. 821T>C, p. L274P), located in the highly conserved CC2 domain. TA-cloning sequencing of patient's cDNA yielded 30 mutant transcripts out of 44 clones. In silico analysis indicated that the hydrogen bond present between Ala270 and Leu274 in the wild-type NEMO was disrupted by the Leu274Pro mutation. However, this mutation did not affect NEMO expression in peripheral blood mononuclear cells (PBMCs). Moreover, patient PBMCs exhibited significantly impaired TNF-α production following Lipopolysaccharide (LPS) stimulation. X-chromosome inactivation in T cells and neutrophils were not severely skewed. Reduced levels of IκBα phosphorylation and degradation in patient's PBMCs were observed. The NF-κB luciferase reporter assay conducted using IKBKG-deficient HEK293T cells revealed a significant reduction in NF-kB activity upon LPS stimulation. These findings adds to the ever-growing knowledge on female IP that might contribute to the better understanding of this challenging disorder.

Microplastics in the Bronchoalveolar Lavage Fluid of Chinese Children: Associations with Age, City Development, and Disease Features.

This study characterized the occurrence patterns of microplastics (MPs) in the bronchoalveolar lavage fluid (BALF) of children with pulmonary diseases. MPs were detected in 89.6% of BALF samples with an average of 4.31 ± 2.77 items/10 mL, supporting the hypothesis that inhalation is a significant pathway of airborne MP exposure to pediatric lungs. Inhaled MPs were predominantly composed of 10 polymer types [e.g., polypropylene (41.9%), polyethylene (19.4%), and polyester (13.6%)], with the majority being smaller than 20 µm. MP levels in BALF exhibited a negative correlation with children's age, probably owing to the preferential crawling and tumbling actions in indoor environments and underdeveloped immune systems of young children. Participants living in urban areas suffered from higher pulmonary MP exposure, likely due to higher environmental levels, compared with suburban/rural residents (P < 0.05). Although no significant differences were found between MP levels in pediatric lungs with community-acquired pneumonia (CAP) and asthma (P > 0.05), the severe CAP group displayed significantly higher MP contamination than the nonsevere group (P < 0.05), indicating that some yet undiscovered relationship(s) between inhaled MPs and pediatric pulmonary diseases may exist.

[Classification of tracheobronchial tuberculosis in 252 children].

Objective: To provide theoretical basis for early diagnosis and accurate bronchoscopic classification of tracheobronchial tuberculosis (TBTB) in children through analyzing the clinical characteristics, bronchoscopic classifications and treatment effect in children with TBTB. Methods: In this respective study, we collected clinical data of patients with TBTB who accepted bronchoscopies in Interventional Pulmonology Department of Beijing Children's Hospital Affiliated to Capital Medical University between January, 2006 and December, 2019. The basic data, including clinical manifestations, imaging features, bronchoscopic characteristics and effects of interventional therapy were analyzed. The results of the study were statistically described and analyzed using SPSS 22.0 statistical software for relevant data. Results: Total 252 children with TBTB were included in this study. The median age was 1.7 years (quartile: 0.8 years, 5.2 years). Analysis of the classification of TBTB showed that the percent of lymph node fistula type was 96.4% (243/252), ulcerative necrosis type 1.2%(3/252), granulation proliferation type 0.4% (1/252), and cicatricial stricture type 0.8% (2/252). In addition, 1.2% (3/252) of the cases showed the same bronchoscopic manifestations as lymph node fistula type, but it was not clear on imaging whether the caseous material in the lumen was caused by lymph node or lung erosion. Therefore, the "bronchial fistula type" was proposed. Conclusions: Lymph node fistula type of TBTB was the common in children. The classification of lymph node fistula mostly depended on imaging evidence, and this may lead to some uncertainty in classifying TBTB in cases with no imaging evidence of enlarged lymph nodes.

Stent intervention for children with CHD and tracheal stenosis.

CHD is closely related to respiratory system diseases (Mok Q, Front Pediatr 2017; 5: 2296-2360). Flexible fibreoptic bronchoscopy will diagnose anatomical lesions of the trachea and perform interventions at the same time for children with indications. We report a case of pulmonary artery sling with severe tracheostenosis in a 11-month-old boy. Tracheal stents were placed with good prognosis.

Clinical characteristics of disseminated cryptococcosis in previously healthy children in China.

BACKGROUND: Disseminated cryptococcosis is a rare and fatal disease, and limited data exist regarding it in children. This study aimed to investigate the clinical characteristics of disseminated cryptococcosis in previously healthy children in China. METHODS: Hospitalized patients with disseminated cryptococcosis were enrolled during January 1996 to December 2015 in Beijing Children's Hospital, Capital Medical University, China. Data on clinical manifestations, laboratory tests, treatment, and prognosis were evaluated. RESULTS: A total of 52 pediatric patients with no underlying disease were enrolled, including 38 boys and 14 girls. Only 10 cases had a history of exposure to pigeon droppings. Fever, cough, and hepatomegaly were 3 main manifestations of disseminated cryptococcosis. However, headache was more common in patients with central nervous system (CNS) invasion than in patients with non-CNS invasion (P < 0.05). Lung (96.2%, 50/52) was the most commonly invaded organ, but only 9.6% (5/52) of patients had respiratory signs. The most common findings on chest imaging were hilar or mediastinal lymphadenopathy (46.8%, 22/47), and nodules (44.7%, 21/47), including small nodules in a scattered distribution (57.1%, 12/21) or miliary distribution (42.9%, 9/25), especially localized in subpleural area. Subsequent invasion occurred in the CNS, abdomen lymph nodes, liver, spleen, peripheral lymph nodes, and skin. In all patients, 42.3% (22/52) and 51.9% (27/52) had elevated eosinophils or IgE, respectively. The positive rate of serum cryptococcal antigen was higher, especially in patients with CNS invasion (approximately 83.3%), than with other primary methods used for pathogen detection, including cerebrospinal fluid (CSF) cryptococcal antigen, cultures of blood, bone marrow, or CSF, and CSF ink staining. The overall mortality rate of pediatric patients in our study was 11.5% (6/52). Some cases had long-term sequela, including hydrocephalus, cirrhosis, or blindness. CONCLUSIONS: Disseminated cryptococcosis can occur in previously healthy or immunocompetent children in China. Lung and CNS were most commonly invaded by this disease. Furthermore, most cases usually showed no obvious or specific symptoms or signs, and therefore pediatricians should pay more careful attention to identify this disease.

Analysis of risk factors for acute attacks complicated by respiratory failure in children with asthma.

Objective: To describe the proportion and clinical characteristics of hospitalized children with acute asthma attacks complicated by respiratory failure and to analyze the risk factors. Methods: This retrospective study analyzed hospital admissions of children and adolescents with acute asthma attacks between January 2016 and December 2021. Inclusion criteria were used to identify eligible cases, and demographic information and disease characteristics were collected. Patients were categorized into respiratory failure group and the other group based on the result of artery blood gas analysis. Multivariate logistic regression was utilized to investigate the risk factors associated with respiratory failure resulting from acute asthma attacks. The data were analyzed using SPSS 22.0, and significance was considered at P < 0.05. Results: Our research involved 225 participants, with 18.7% diagnosed with respiratory failure. The respiratory failure group was found to be younger and have higher percentage of male, while birth weight, nationality, and type of residence did not differ between the two groups. In the respiratory failure group, a significant difference was observed in emergency hospitalization, ICU treatment, severe to critical attack, dyspnea and allergy history. The two groups did not differ in admission season, first asthma diagnosis, respiratory infection and comorbidity. The respiratory failure group exhibited a higher proportion of atopy-only asthma and a lower proportion of T2-high asthma. The eosinophil count, and eosinophil percentage were lower in the respiratory failure group, while neutrophil count was higher. Having a history of allergies (OR = 2.46, 95% CI: 1.08-5.59) and neutrophil count (OR = 1.10, 95% CI: 1.00-1.21) were the risk factors for respiratory failure in children with asthma. There also existed that the risk of respiratory failure increases with decreasing age of the children (OR = 0.85, 95% CI: 0.73-0.99). Conclusion: Notably, risk factors for respiratory failure in hospitalized asthma children include age, having a history of allergies, and neutrophil count. The identification of the above factors and the implementation of timely intervention can optimize the treatment of asthma in children.

Respiratory microbiota imbalance in children with Mycoplasma pneumoniae pneumonia.

Although previous studies have reported the dysregulation of respiratory tract microbiota in infectious diseases, insufficient data exist regarding respiratory microbiota imbalances in the lower respiratory tracts (LRTs) of children with Mycoplasma pneumoniae pneumonia (MPP). Here, we analysed the microbial community using 16S rRNA gene sequencing. Finally, bronchoalveolar lavage fluid (BALF) samples from 158 children with MPP and 29 with bacterial or viral pneumonia (control group) were collected. The diversity of the microbial community was significantly different between the two groups. A significantly increased abundance of Tenericutes and Mycoplasma was detected in the MPP group, exceeding 67% and 65% of the total bacterial population, respectively. Using Mycoplasma abundance as the diagnostic method, the sensitivity and specificity of the model was 97.5% and 96.6%, respectively. Compared to the mild MPP group, lower alpha diversity and significantly increased Mycoplasma abundance were found in the severe MPP group (P < 0.01). The abundance of Mycoplasma was positively correlated with complications and clinical indices in children with severe MPP compared with children with mild MPP. Our study describes the features of the LRT microbiota of children with MPP and uncovered its association with disease severity. This finding may offer insights into the pathogenesis of MPP in children.

Exhausted and Apoptotic BALF T Cells in Proinflammatory Airway Milieu at Acute Phase of Severe Mycoplasma Pneumoniae Pneumonia in Children.

Severe mycoplasma pneumoniae pneumonia (MPP) in children presents with serious clinical complications. Without proper and prompt intervention, it could lead to deadly consequences. Dynamics of the inflammatory airway milieu and activation status of immune cells were believed to be the hallmark of the pathogenesis and progress of the disease. In this study, by employing the T-cell sorting and mRNA microarray, we were able to define the main feature of the chemokine/cytokine expression and the unique characteristics of T cells in the bronchoalveolar lavage fluid (BALF) from severe MPP patients at acute phase. Our study for the first time delineated the molecular changes in isolated BALF T cells in severe MPP children with respect to the cytokine/chemokine expression, cell activation, exhaustion, and apoptosis. By comparing the BALF aqueous expression of cytokines/chemokines with that in sorted T cells, our data give a preliminary clue capable of finishing out the possible cell source of the proinflammatory cytokines/chemokines from the BALF mixture. Meanwhile, our data provide a distinctively pellucid expression profile particularly belonging to the isolated BALF T cells demonstrating that in the inflammatory airway, overactivated T cells were exhausted and on the verge of apoptotic progress.

[Clinical analysis of bronchial foreign bodies in 246 children].

OBJECTIVE: To analyze the characters of bronchial foreign bodies in children and the utilization of bronchoscope in the treatment of bronchial foreign bodies. METHODS: A total of 246 children were diagnosed with bronchial foreign bodies at our hospital during January 2000 until August 2009. Under local mucosal anesthesia, a bronchoscope was inserted through nasal cavity into bronchi. After identifying the site of foreign body, grasping forceps was guided through bronchoscope to remove the foreign body from airway. RESULTS: Among 246 cases, hard nut and skin of melon seed were found (n = 230, 93.5%). The most common site of foreign body was in right lower lobe bronchi (n = 98, 38.9%). The average operative frequency was 1.9 +/- 1.3 and one-time extraction ratio 58.5% (n = 144). The one-time extraction ratio of patients with foreign body obstructed in main bronchi (91.1%), right middle lobe (60.0%) and right lower lobe (55.1%) was higher than others. The operation frequency of using basket grasping forceps (1.4 +/- 0.9) was lower than those using tooth type forceps (2.1 +/- 1.4). And the difference was significant (P = 0.000). CONCLUSION: For bronchial foreign body in pediatric patients, hard nut and skin of melon seed are the most common foreign bodies. The right and left lower lobe bronchi are the predilection site. Foreign body in main bronchus is the easiest to be removed by grasping forceps. For massive foreign bodies, basket grasping forceps fares better than tooth grasping forceps.

[Clinical features of endogenous bronchial foreign bodies and application of bronchoscopy in children].

OBJECTIVE: To study the clinical features of endogenous bronchial foreign bodies and the value of bronchoscopy in children. METHODS: One hundred and six children who presented lobe or lung segment atelectasis by the chest X-ray and bronchial foreign body inhalation was excluded by bronchoscopy were enrolled. The original diseases included Mycoplasma pneumonia (n=62), endobronchial tuberculosis (n=24), bronchial pneumonia (n=16), nephrotic syndrome (n=2), laryngotracheal bronchitis (n=1) and bronchiolitis (n=1). On the basis of conventional treatment of the original diseases, bronchoscopy was performed in the children. Eighty children with bronchial foreign body inhalation severed as the control group. RESULTS: Bronchoscopy showed the properties of endogenous foreign bodies: mucus emboli in 77 cases, cheese substances in 24 cases, dendritic white membrane in 4 cases, thrombosis in 1 case, and flaky pseudomembrane in 1 case. Hyperplasia of granulation tissue was seen in 25 cases. Of the 25 cases, endobronchial tuberculosis as the original disease was found in 22 cases. Mediastinal emphysema and pneumothorax occurred in 4 cases in the control group, but none in the endogenous foreign bodies group. The number of bronchoalveolar lavage by bronchoscopy in the endogenous foreign bodies group was significantly higher than that in the control group. CONCLUSIONS: Bronchoscopy is valuable in the diagnosis and treatment of endogenous bronchial foreign bodies.

SLC11A1 (Formerly NRAMP1) gene polymorphisms associated with pediatric tuberculosis in China.

BACKGROUND: Tuberculosis is an urgent public health problem caused by Mycobacterium tuberculosis infection. Many factors, including host genetic factors, are involved in tuberculosis pathogenesis. The SLC11A1 gene (formerly NRAMP1) is a primary candidate for association with tuberculosis susceptibility. METHODS: We examined the association between SLC11A1 polymorphisms and susceptibility to tuberculosis in Han Chinese children. The study included 136 pediatric patients with tuberculosis and 435 pediatric control subjects. Polymerase chain reaction restriction fragment-length polymorphism analysis was performed with blood samples to distinguish allele genotypes of INT4 (a G-->C single nucleotide change in intron 4, 469 + 14G/C) and the 3'UTR (TGTG deletion in the 3' untranslated region, 1729 + 55del) in the SLC11A1 gene. Differences in genotype frequency were analyzed for patients with tuberculosis and control subjects. RESULTS: We did not identify any statistically significant differences between the tuberculosis and control groups with regard to the frequency of genotype variants G/C and C/C at the INT4 locus. The frequency of genotype variants (TGTG +/delete and TGTG delete/delete) was significantly higher in the tuberculosis group than in the control group at the 3'UTR locus. Differences in genotype distribution at the 3'UTR locus were only identified in female subjects, with a greater number of variant genotypes in the tuberculosis group. CONCLUSIONS: Variant genotypes at the 3'UTR locus in the SLC11A1 gene were associated with pediatric tuberculosis in Chinese patients. Patient sex may affect the outcome of M. tuberculosis infection in children.

[Measurement of pulmonary function with body plethysmograph in infants].

OBJECTIVE: To observe the alterations of pulmonary function in infants with respiratory diseases. METHODS: A total of 900 infants with respiratory diseases were recruited and pulmonary function measured in 30 healthy infants. The tests were performed in the sleeping infants with sedation. Tidal breathing flow-volume (TBFV) loops were recorded when infants were breathing quietly. Passive flow-volume technique was used to obtain static respiratory system compliance and resistance. Functional residual capacity was measured by body plethysmograph. RESULTS: The TBFV loop showed proximate round or oval curve in healthy infants. The shape and parameters of TBFV loop had significant differences in infants with respiratory diseases as compared with healthy controls. The TBFV loop displayed a concave expiratory curve and ratio of time to reach tidal peak flow to total expiratory time, the expiratory volume till peak flow divided by the total expiratory volume significantly decreased in infants with small airway obstruction. The expiratory or inspiratory curve showed a plateau and the ratio of mid-expiratory to mid-inspiratory flow was less than 60% or over 150% in infants with upper airway obstruction. The TBFV loop turned narrow and lung volume decreased in infants with restrictive diseases. CONCLUSION: The TBFV loop show proximate round or oval curve in healthy infants. Pulmonary function has significant differences between healthy controls and infants with respiratory diseases. Pulmonary function test is useful in the assessment of respiratory diseases.

[Association of NRAMP1 gene polymorphisms with the susceptibility to tuberculosis in ethnic Han Chinese children].

OBJECTIVE: Tuberculosis is still a public health problem. Host genetic factors, such as polymorphisms in NRAMP1 gene, may play a role in the development of tuberculosis. To clarify the effect of NRAMP1 gene polymorphisms on the development of childhood tuberculosis, the association of NRAMP1 gene polymorphisms with susceptibility to tuberculosis in the ethnic Han Chinese children was investigated. METHODS: From January 2005 to March 2008, 130 ethnic Han children with tuberculosis (TB group) were enrolled. Three hundred and ninety hospitalized ethnic Han children for physical examination in the surgery department were used as the control group. The controls were matched with tuberculosis children by age, sex and area. PCR-RFLP analysis was performed on DNA samples to identify allele genotypes of INT4 and D543N in NRAMP1 gene. Genotype frequency differences between tuberculosis patients and controls were analyzed using x2 test. RESULTS: No statistical difference was found in the genotype frequency of variants G/C and C/C at the INT4 locus between the TB and the control groups. At the D543N locus, the frequency of genotype variants (G/A and A/A) was significantly higher in the TB group (34/130) than that in the control group (66/390) (x2=5.349, P<0.05; OR=1.74, 95%CI=1.08-2.79). When stratified by sex, differences in the genotype distribution were observed only in females at the D543N locus, which the variant genotypes were higher in the TB group (16/52) than in the control group (21/155) (x2=7.866, P<0.05; OR=2.84, 95%CI=1.34-5.99). For males, there was no difference between the TB and the control groups. At the INT4 locus, no difference was observed between the two groups in boys and girls. CONCLUSIONS: Genotypic variation at the D543N locus in NRAMP1 gene may be associated with susceptibility to tuberculosis in ethnic Han Chinese children. Variant genotypes in NRAMP1 gene (G/A and A/A) may be susceptible genotypes to tuberculosis in ethnic Han Chinese children. Girls with variant genotypes were more susceptible to tuberculosis.

A Test for More Accurate Diagnosis of Pulmonary Tuberculosis.

OBJECTIVES: Xpert Mycobacterium tuberculosis and rifampicin (MTB/RIF) Ultra assay has increasingly been used in adult tuberculosis diagnosis, but data relating to its diagnostic accuracy in children are lacking. Because a qualified sputum specimen is difficult to obtain in children, this study evaluated the diagnostic value of Ultra in childhood tuberculosis using bronchoalveolar lavage fluid. METHODS: The accuracy of Ultra was calculated by using bacteriologic results and clinical evidence as reference standards. Concordance between Ultra and Xpert MTB/RIF assays was assessed by using к coefficients. RESULTS: In total, 93 children with pulmonary tuberculosis and 128 children with respiratory tract infections were enrolled. The sensitivity of Ultra, in all pulmonary tuberculosis cases and in bacteriologically confirmed tuberculosis cases, was 70% and 91%, respectively. Ultra could detect Mycobacterium tuberculosis in 58% of cases with negative culture or acid-fast-staining results. The specificity of Ultra was 98%. There was no significant difference in sensitivity between samples with a volume ≤1 and >1 mL (66% vs 73%; P = .50; odds ratio [OR] = 0.71). Among 164 children for which Ultra and Xpert were simultaneously performed, the sensitivity was 80% and 67%, respectively, indicating good agreement (к = 0.84). An additional 6 children were identified as Ultra-positive but Xpert-negative. The positive rate decreased from 93% to 63% after 1 month (P = .01; OR = 0.12) and to 71% after 2 months (P = .03; OR = 0.18) of antituberculosis treatment. CONCLUSIONS: Ultra using bronchoalveolar lavage fluid has good sensitivity compared with bacteriologic tests and adds clinical value by assisting the rapid and accurate diagnosis of pulmonary tuberculosis in children.

Effective treatment of post-intubation subglottic stenosis in children with holmium laser therapy and cryotherapy via flexible bronchoscopy.

IMPORTANCE: Post-intubation subglottic stenosis (SGS) in children can be life threatening. Definitive treatment varies and lacks a universally accepted approach. OBJECTIVE: We performed a prospective study to assess the safety and feasibility of holmium laser combined with cryotherapy delivered via flexible bronchoscopy for the treatment of post-intubation SGS in children. METHODS: This study involved all patients with post-intubation SGS seen at the Interventional Pulmonology Department of Beijing Children's Hospital between July 2014 and December 2016. Holmium laser treatment and cryotherapy was then performed under flexible bronchoscopy, whose parents refused to accept the alternative standard treatment of tracheotomy and balloon dilation under direct laryngoscopy. RESULTS: Sixteen patients with post-intubation SGS were included in this study. Ages ranged from 2 months to 12.25 years old. According to the Cotton-Myer grading system, three cases were Grade II, 12 cases were Grade III, and one case was Grade IV. According to the McCaffrey system, eight cases were Stage 1, two cases were Stage 2, and six cases were Stage 3. The average number of procedures was 4.88. Fifteen of the 16 patients achieved clinical cure. One patient achieved clinical improvement. The average treatment course duration was 55.31 days. No severe complications were seen. Post-treatment clinical symptoms, endoscopic findings and quality of life showed marked improvement. INTERPRETATION: Our study supports the conclusion that holmium laser treatment combined with cryotherapy via flexible bronchoscopy appears to be a safe and feasible treatment for post-intubation SGS in children.

Characteristics and clinical role of bronchoscopy in diagnosis of childhood endobronchial tuberculosis.

BACKGROUND: Endobronchial tuberculosis (EBTB) is the most frequent complication of primary pulmonary tuberculosis (PTB) in children. The aim of the study was to analyze characteristics and clinical role of bronchoscopy in diagnosis of childhood EBTB. METHODS: A retrospective, descriptive study was undertaken in 157 children with EBTB undergone flexible bronchoscopy (FB) between January 2006 and June 2014. RESULTS: The median age of the enrolled patients was 3.4 years, with 73.2% of patients under five years old. The most common subtype was tumorous type (145/157, 92.4%). If only involved bronchus were considered, the common affected sites were right middle lobe bronchus (49/228, 21.5%), left upper lobe bronchus (41/228, 18.0%), right upper lobe bronchus (41/228, 18.0%), right main bronchus (35/228, 15.4%), respectively. Children younger than five years old were at higher risk to have multiple endobronchial lesions (P=0.044), with an odds ratio of 2.313 (95% confidence interval: 1.009-5.299). Before the bronchoscopy, only 16 (10.2%) patients were highly suspected of EBTB, while the others were diagnosed as PTB without EBTB (69.4%), or misdiagnosed as pneumonia or foreign body aspiration (20.4%) on admission. CONCLUSIONS: The patients under five years old are at high risk to progress to EBTB and have multiple endobronchial lesions. The most frequent subtype of EBTB in children is tumorous type. The lesions are seen in the right bronchial system more frequently. FB should be performed to detect the endobronchial lesions in suspected patients as soon as possible.

[Pulmonary function in infants with respiratory syncytial virus bronchiolitis].

OBJECTIVE: To observe the dynamics of pulmonary function in infants with respiratory syncytial virus (RSV) bronchiolitis. METHODS: The to test the pulmonary function of 31 infants with RSV bronchiolitis during acute phase at admission was tested. Pulmonary fuction test was performed for the second time among 17 out of the 31 infants during the clinical recovery phase, and performed for the third time among 10 out of the 17 infants one week after discharge. In the meantime pulmonary function test was performed in 74 healthy infants as controls. RESULTS: During the acute phase of RSV bronchiolitis, the respiratory rate (RR), peak tidal expiratory flow (PTEF), peak tidal flow/tidal volume (PF/Ve), respiratory system resistance (Rrs), and functional residual capacity per kilogram (FRC/kg) were significantly increased, while the inspiratory tidal volume (Vi), inspiratory volume per kilogram (Vi/kg), expiratory tidal volume (Ve), percent of tidal volume to peak tidal expiratory flow (%V-PF), terminal flows/peak expiratory flow (25/PF), respiratory system compliance (Crs), and respiratory system compliance per kilogram (Crs/kg) were significantly decreased as compared with those in healthy infants. Ratio of mid-expiratory to mid-inspiratory flow (ME/MI) and respiratory system time constant (Trs) showed no statistically significant differences. The tidal breathing flow-volume (TBFV) loop displayed a concave expiratory curve. During the clinical recovery phase, the above abnormal indexes showed significant improvement, except for the %V-PF, 25/PF and Crs/kg which were still lower as compared with those in healthy infants, most indexes had returned to normal. The TBFV loop showed mild decelerating expiratory limb. One week after discharge all of the indexes returned to normal. CONCLUSION: In the acute phase of RSV bronchiolitis higher resistance in small airway and obstructive ventilatory disturbance can be seen. Some of the indexes remain abnormal during the clinical recovery phase. However, the abnormalities disappear in a short time. Pulmonary function test is a valuable way for surveillance of the course and prognosis of RSV bronchiolitis. %V-PF, 25/PF, and FRC/kg are sensitive indexes.

Rapid diagnosis of childhood pulmonary tuberculosis by Xpert MTB/RIF assay using bronchoalveolar lavage fluid.

In order to evaluate the diagnostic accuracy of the Xpert MTB/RIF assay on childhood pulmonary tuberculosis (PTB) using bronchoalveolar lavage fluid (BALF), we evaluated the sensitivity, specificity, positive predictive value, and negative predictive value of Xpert MTB/RIF assay using BALF in comparison with acid-fast bacilli (AFB) microscopy and Mycobacterium tuberculosis (MTB) culture for diagnosing childhood PTB using Chinese "composite clinical reference standard" (CCRS) as reference standard. Two hundred fifty-five children with suspected PTB were enrolled at Beijing Children's Hospital from September 2010 to July 2013. Compared with Chinese CCRS, the sensitivity of AFB microscopy, MTB culture, and Xpert MTB/RIF assay was 8.4%, 28.9%, and 53.0%, respectively. The specificity of three assays was all 100%. Xpert MTB/RIF assay could detect 33.9% of cases with negative MTB culture, and 48.7% of cases with negative AFB microscopy. Younger age (<3 years), absence of BCG scar, and contact with TB patient were found significantly associated with a positive result of Xpert MTB/RIF assay. In conclusion, Xpert MTB/RIF assay using BALF can assist in diagnosing childhood PTB much faster when fiberoptic bronchoscopy is necessary according to the chest radiograph.

Impact of glutathione S-transferase M1 and T1 on anti-tuberculosis drug-induced hepatotoxicity in Chinese pediatric patients.

BACKGROUND: Anti-tuberculosis drug induced hepatotoxicity (ATDH) is a major adverse drug reaction associated for anti-tuberculosis therapy. The glutathione S-transferases (GST) plays a crucial role in the detoxification of hepatotoxic metabolites of anti-tuberculosis drugs.An association between GSTM1/GSTT1 null mutations and increased risk of ATDH has been demonstrated in adults. Given the ethnic differences and developmental changes, our study aims to investigate the potential impacts of GSTM1/GSTT1 genotypes on the development of ATDH in Han Chinese children treated with anti-tuberculosis therapy. METHODS: Children receiving anti-tuberculosis therapy with or without evidence of ATDH were considered as the cases or controls, respectively. The GSTM1 and GSTT1 genotyping were performed using the polymerase chain reaction. RESULTS: One hundred sixty-three children (20 cases and 143 controls) with a mean age of 4.7 years (range: 2 months-14.1 years) were included. For the GSTM1, 14 (70.0%) cases and 96 (67.1%) controls had homozygous null mutations. For the GSTT1, 13 (65.0%) cases and 97 (67.8%) controls had homozygous null mutations. Neither the GSTM1, nor the GSTT1 polymorphism was significantly correlated with the occurrence of ATHD. CONCLUSION: Our results did not support the GSTM1 and GSTT1 polymorphisms as the predictors of ADTH in Chinese Han children treated with anti-tuberculosis drugs. An age-related association between pharmacogenetics and ATHD need to be confirmed in the further study.