[Correlation of nutritional status with clinical characteristics and lung function in children with cystic fibrosis]. / å›Šæ€§çº¤ç»´åŒ–å„¿ç«¥è¥å »çŠ¶å†µä¸Žä¸´åºŠç‰¹å¾å’Œè‚ºåŠŸèƒ½çš„ç›¸å ³æ€§åˆ†æž.

OBJECTIVES: To investigate the nutritional status of children with cystic fibrosis (CF) and understand the correlation between malnutrition and clinical characteristics as well as lung function. METHODS: A retrospective analysis was performed on clinical data of CF children admitted from January 2016 to June 2023. Clinical characteristics of CF children with different nutritional statuses were compared, and the correlation between malnutrition and lung function was analyzed. RESULTS: A total of 52 CF children were included, comprising 25 boys (48%) and 27 girls (52%), aged between 7 months and 17 years. Respiratory symptoms were the predominant clinical manifestations (96%, 50/52). The prevalence of malnutrition was 65% (34/52), with moderate/severe malnutrition being the most common (65%, 22/34). The malnutrition group had a longer duration of illness, higher proportion of digestive system symptoms, and lower levels of serum albumin (P<0.05). Pulmonary function parameters, including forced expiratory volume in one second as a percentage of the predicted value, ratio of forced expiratory volume in one second to forced vital capacity, forced expiratory flow at 25% of forced vital capacity exhaled, forced expiratory flow at 50% of forced vital capacity exhaled, forced expiratory flow at 75% of forced vital capacity exhaled, and maximum mid-expiratory flow as a percentage of the predicted value, were lower in the malnutrition group compared to the normal nutrition group (P<0.05). Correlation analysis showed body mass index Z-score was positively correlated with the above six pulmonary function parameters (P<0.05). CONCLUSIONS: The prevalence of malnutrition is high in CF children and is associated with decreased lung function. CF children with higher body mass index have better lung function. Therefore, screening and evaluation of nutritional status as well as appropriate nutritional intervention should be emphasized in CF children.

Expert consensus on the diagnosis, treatment, and prevention of respiratory syncytial virus infections in children.

BACKGROUND: Respiratory syncytial virus (RSV) is the leading global cause of respiratory infections and is responsible for about 3 million hospitalizations and more than 100,000 deaths annually in children younger than 5 years, representing a major global healthcare burden. There is a great unmet need for new agents and universal strategies to prevent RSV infections in early life. A multidisciplinary consensus development group comprising experts in epidemiology, infectious diseases, respiratory medicine, and methodology aims to develop the current consensus to address clinical issues of RSV infections in children. DATA SOURCES: The evidence searches and reviews were conducted using electronic databases, including PubMed, Embase, Web of Science, and the Cochrane Library, using variations in terms for "respiratory syncytial virus", "RSV", "lower respiratory tract infection", "bronchiolitis", "acute", "viral pneumonia", "neonatal", "infant" "children", and "pediatric". RESULTS: Evidence-based recommendations regarding diagnosis, treatment, and prevention were proposed with a high degree of consensus. Although supportive care remains the cornerstone for the management of RSV infections, new monoclonal antibodies, vaccines, drug therapies, and viral surveillance techniques are being rolled out. CONCLUSIONS: This consensus, based on international and national scientific evidence, reinforces the current recommendations and integrates the recent advances for optimal care and prevention of RSV infections. Further improvements in the management of RSV infections will require generating the highest quality of evidence through rigorously designed studies that possess little bias and sufficient capacity to identify clinically meaningful end points.

Human Galectin-7 Gene LGALS7 Promoter Sequence Polymorphisms and Risk of Spontaneous Intracerebral Hemorrhage: A Prospective Study.

Background and purpose: Despite evidence for the role of genetic factors in stroke, only a small proportion of strokes have been clearly attributed to monogenic factors, due to phenotypic heterogeneity. The goal of this study was to determine whether a significant relationship exists between human galectin-7 gene LGALS7 promoter region polymorphisms and the risk of stroke due to non-traumatic intracerebral hemorrhage (ICH). Methods: This two-stage genetic association study included an initial exploratory stage followed by a discovery stage. During the exploratory stage, transgenic galectin-7 mice or transgenic mice with the scrambled sequence of the hairpin structure -silenced down gene LGALS7-were generated and then expressed differentially expressed proteins and galectin-7-interacting proteins were identified through proteomic analysis. During the discovery stage, a single-nucleotide polymorphism (SNP) genotyping approach was used to determine associations between 2 LGALS7 SNPs and ICH stroke risk for a cohort of 24 patients with stroke of the Chinese Han population and 70 controls. Results: During the exploratory phase, LGALS7 expression was found to be decreased in TGLGALS-DOWN mice as compared to its expression in TGLGALS mice. During the discovery phase, analysis of LGALS7 sequences of 24 non-traumatic ICH cases and 70 controls led to the identification of 2 ICH susceptibility loci: a genomic region on 19q13.2 containing two LGALS7 SNPs, rs567785577 and rs138945880, whereby the A allele of rs567785577 and the T allele of rs138945880 were associated with greater risk of contracting ICH [for T and A vs. C and G, unadjusted odds ratio (OR) = 13.5; 95% CI = 2.249-146.5; p = 0.002]. This is the first study to genotype the galectin-7 promoter in patients with hemorrhagic stroke. Genotype and allele association tests and preliminary analysis of patients with stroke revealed that a single locus may be a genetic risk factor for hemorrhagic stroke. Conclusion: A and T alleles of two novel SNP loci of 19q13.2, rs567785577 and rs138945880, respectively, were evaluated for associations with susceptibility to ICH. Further studies with expanded case numbers that include subjects of other ethnic populations are needed to elucidate mechanisms underlying associations between these SNPs and ICH risk.

[Case Report: Three Pediatric Pulmonary Cryptococcosis Patients with Prominent Manifestation of Mediastinal Lymphadenopathy].

In this study, we report on three immunocompetent children with pulmonary cryptococcosis presenting mediastinal lymphadenopathy as the prominent manifestation. All three children were otherwise healthy previously. Two children had a history of exposure to pigeons and poultry. All three presented persistent fever accompanied by mild cough. There were no obvious positive signs in the lungs. One patient had enlarged cervical lymph nodes. All three had elevated levels of white blood cells, neutrophil count, and C-reactive protein (CRP). The levels of IgG, IgM, IgA, IgE and T cell subsets were normal in all cases, and they were all tested negative for HIV antibody. Two children were tested positive for serum cryptococcal antigen (sCRAG). The chest X-ray and pulmonary CT findings of the three patients all demonstrated marked enlargement of mediastinal lymph nodes, and one patient had nodules in the parenchyma. Surgical biopsies of mediastinal lymph nodes were performed in two children and large numbers of capsule spores were found in the histological examination. In the three cases, definitive diagnosis of pulmonary cryptococcosis were made in two patients, and clinical diagnosis was made in the third patient. Two patients were treated with fluconazole alone. The other patient whose condition was complicated with spleen infection was treated with fluconazole combined with amphotericin B for the first month, and was then given fluconazole for maintenance treatment. The overall treatment course lasted 5-9 months and all three were cured eventually. In conclusion, immunocompetent children with pulmonary cryptococcosis may present mediastinal lymphadenopathy as a prominent or isolated manifestation, which should be considered in differential diagnosis. Treatment with fluconazole alone or in combination with amphotericin B when it was necessary showed good therapeutic outcomes.

Efficacy of Huaiqihuang granules as adjuvant therapy for bronchial asthma in children: a real-world study. / æ§æžé»„é¢—ç²’è¾ åŠ©æ²»ç–—å„¿ç«¥æ”¯æ°”ç®¡å“®å–˜ç–—æ•ˆçš„çœŸå®žä¸–ç•Œç ”ç©¶.

OBJECTIVES: To study the efficacy of Huaiqihuang granules as adjuvant therapy for bronchial asthma in children. METHODS: A multicenter, prospective, and registered real-world study was performed for the children, aged 2-5 years, who had a confirmed diagnosis of bronchial asthma in the outpatient service of 21 hospitals in China. Among these children, the children treated with medications for long-term asthma control (inhaled corticosteroid and/or leukotriene receptor antagonist) without Huaiqihuang granules were enrolled as the control treatment group, and those treated with medications for long-term asthma control combined with Huaiqihuang granules were enrolled as the combined treatment group. The medical data of all children were collected. Outpatient or telephone follow-up was performed at weeks 4, 8, 12, 20, 28, and 36 after treatment, including asthma attacks and rhinitis symptoms. A statistical analysis was performed for the changes in these indices. RESULTS: There was no significant difference in the frequency of asthma attacks or rhinitis attacks between the two groups before treatment (P>0.05). After treatment, the combined treatment group had significantly lower frequencies of asthma attacks, severe asthma attacks, and rhinitis attacks compared with the control treatment group (P<0.05). There was no signification difference in the incidence rate of adverse reactions between the two groups (P=0.667). CONCLUSIONS: Huaiqihuang granules in addition to medications for long-term asthma control can alleviate the symptoms of bronchial asthma and rhinitis and improve the level of asthma control in children with bronchial asthma, with good safety and little adverse effect. Citation.

Low Bacterial Co-infection Invalidates the Early Use of Non-anti-Mycoplasma pneumoniae Antibiotics in Pediatric Refractory Mycoplasma pneumoniae Pneumonia Patients.

Background: Childhood refractory mycoplasma pneumoniae (MP) pneumonia (RMPP) is a lung disease with elevated level of C-reactive protein and severe clinical and radiological deterioration. Whether bacterial co-infection contributes to disease of RMPP and whether inclusion of non-anti-MP antibiotics in treatment regimen would benefit RMPP patients remains elusive. Methods: We retrospectively reviewed the medical records of 675 RMPP children. Traditional bacterial culture and next generation sequencing (NGS) were used to detect bacteria in bronchoalveolar lavage fluid in all the 675 patients and 18 patients respectively. Antibiotics used and clinical outcomes were analyzed along with other clinical measurements. Results: Positive bacterial cultures were only found in 18 out of 675 cases (2.67%) and NGS analyses of another 18 cases did not revealed positive bacterial infection, which were consistent with the results of bacterial cultures. Non-anti-MP antibiotics were utilized in 630 cases (93.33%), even last-line antibiotics, such as glycopeptides or carbapenems, were frequently used. Conclusion: Bacterial co-infection in RMPP was rare and non-anti-MP antibiotics didn't show any efficacy for early treatment of RMPP patients, which may provide a rationale for restricting the use of non-anti-MP antibiotics in RMPP patients and preventing antibiotic resistance globally.

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.

Bronchiolitis obliterans organizing pneumonia due to gastroesophageal reflux.

The most common causes of bronchiolitis obliterans organizing pneumonia (BOOP) are connective tissue diseases, organ transplantation, drug reaction, and infections. Although rare, BOOP due to gastroesophageal reflux (GER) has been reported in adults but not to date in pediatric patients. This study describes 2 pediatric patients who developed GER and BOOP. One patient had superior mesenteric artery syndrome and Helicobacter pylori infection, and the other had a gastroduodenal ulcer with reflux esophagitis. Respiratory symptoms occurred concurrently or after gastrointestinal symptoms. Monitoring of esophageal pH for 24 hours revealed pathologic acid reflux. Lung biopsy findings confirmed BOOP. No other causes of BOOP were observed in these 2 patients. Both patients were cured with antireflux therapy and corticosteroids. To our knowledge, this is the first case report to implicate GER as a reversible cause of BOOP in children.

[Risk factors of invasive fungal infections in patients admitted to non- hematological oncology department and pediatric intensive care unit].

OBJECTIVE: To determine risk factors of invasive fungal infections (IFI) in patients admitted to non-hematological oncology department and pediatric intensive care unit (PICU), in order to improve diagnostic level of invasive fungal infections. METHOD: We retrospectively assessed 85 hospitalized pediatric patients with invasive fungal infections in Beijing Children's Hospital Affiliated to Capital Medical University from Jan.2007 to Nov.2012. All the cases were either from non-hematological oncology department or the PICU.We reviewed risk factors of invasive fungal infections. RESULT: Among 85 patients, 42 had invasive candida infection, 20 invasive aspergillus infection, 21 cryptococcus infection, 1 Histoplasma capsulatum infection and 1 Mucor mucedo infection.In the 42 patients with invasive candida infection, 5 were young infants, 3 had combined immunodeficiency, 1 cellular immunodeficiency, 25 secondary infection due to long term use of corticosteroids and/or combined use of more than 2 kinds of antibiotics with primary disease, 5 prior intestinal tract surgery or chronic diarrheal disease, 1 reflux gastritis.In the 20 patients with invasive aspergillosis infection, 10 patients had chronic granulomatous disease, 5 long term use of corticosteroids ≥ 1 month, 3 long term use of corticosteroids and combined use of more than 2 kinds of antibiotics, 2 had no apparent host factors.In the 21 patients with cryptococcus infection, 2 patients had used corticosteroids ≥ 1 month, 2 had immunodeficiency mainly for lack of antibodies, while others had no apparent host factors. The child with Mucor mucedo infection had diabetes mellitus. And the one with Histoplasma capsulatum infection had immunodeficiency. CONCLUSION: High risk factors for IFI in patients admitted to non-hematological oncology department and PICU are primary immunodeficiency disease and long term use of corticosteroids and/or long term combined use of more than 2 kinds of antibiotics. Besides, young infant is also a high risk factor for invasive candida infection. Most of the cryptococcus infections and certain aspergillosis had no obvious host factors.

[Clinical analysis of a Chinese child with leukocyte adhesion deficiency type 1].

OBJECTIVE: Leukocyte adhesion deficiency type 1 (LAD-I) is rare. We present 1 case of LAD-I patient diagnosed by gene analysis. His clinical manifestations and genetic mutation features are analyzed in this article. METHOD: The clinical material of the LAD-I patient who was diagnosed by gene analysis was retrospectively analyzed. RESULT: The patient was a 2-month-old boy. He had a complaint of recurrent fever and cough for 30 days. Pulmonary CT indicated a small to moderate quantity pleural effusion on the right side. His peripheral blood leukocyte and C-reactive protein (CRP) was always significantly higher than normal. After hospitalization he had diarrheal diseases, routine stool test showed 2 RBC cells/high power (HP), WBC 30 cells/HP, stool cultures were negative, digestive tract ultrasonography showed an array of defects, in the sigmoid colon and rectal mucosa suggestive of ulcerative colitis. He was treated with cefoperazone and sulbactam and vancomycin. He had a history of impetigo in his neonatal period and without delayed umbilical cord exfoliation. His family history was normal. ITGB2 genetic mutation analysis revealed a homozygous mutation (1062A > T). His parents did not participate in this study. He had no fever but had diarrheal disease after 1 month of follow up. CONCLUSION: This patient had suffered from impetigo, pleural effusion, diarrheal diseases, markedly increased peripheral white blood cell and ITGB2 genetic mutation analysis showed that homozygous mutation (1062A > T). He received a diagnosis of LAD-I.

[Clinical features of four atypical pediatric cases of endemic typhus with pneumonia].

OBJECTIVE: To analyze clinical manifestations, treatment and prognosis of 4 cases with endemic typhus. METHOD: The clinical data of four endemic typhus patients in prognosis were retrospectively analyzed. These four atypical cases of endemic typhus with pneumonia were treated in our department from October 2011 to March 2012. They were all male, with an age range of 15 months to 7 years. The four patients had long history, mild respiratory symptom and no improvement was found after treatment with cephalosporins. There were no evidences of bacterial, viral, or fungal infections and we thought they might have infection with other pathogen. Three were from rural areas. Routine blood tests, Weil-Felix reaction, blood smear (Giemsa staining) , and indirect immunofluorescence assay were performed. RESULT: Blood smear and IFA tests showed evidences for endemic typhus. The clinical presentations were atypical, the patients had no headache, but all had fever, rash, and pneumonia of varying severity. None of the patients had a severe cough, but bronchial casts were observed in one case. Recurrent fever was reported in three cases. Physical examinations showed no eschars, but one patient had a subconjunctival hemorrhage, and one had skin scratches, cervical lymphadenopathy, pleural effusion, pericardial effusion, and cardiac dilatation. Two patients had remarkably increased peripheral blood leukocyte counts; both these patients also had high alanine aminotransferase (ALT) levels and one had a high C-reactive protein (CRP) level. Weil-Felix testing was negative or the OX19 titer was low. The peripheral blood smear (Giemsa stain) showed intracellular pathogens in all four cases. After combined therapy with doxycycline and macrolide antibiotics, all four patients recovered well. CONCLUSION: The endemic typhus children often come from rural areas. The clinical presentations were atypical, they usually have no headache, but have fever (often Periodic fever) , rash, and pneumonia of varying severity in these four cases. Combined therapy with doxycycline and macrolide antibiotics was effective in all four patients.

[Clinical analysis of 20 cases with Streptococcus pneumoniae necrotizing pneumonia in China].

OBJECTIVE: Streptococcus pneumoniae necrotizing pneumonia (SPNP) was reported elsewhere but not in China yet. Inappropriate treatment due to poor recognition of this disease could influence its prognosis. This paper presents the clinical characteristics, diagnosis and treatment of SPNP hoping to elevate pediatrician's recognition level for this disease. METHOD: Clinical manifestations, radiological findings, treatment and prognosis of 20 patients (9 boys, 11 girls) who had been hospitalized with SPNP in Beijing Children's Hospital from 2004-2011 were retrospectively analyzed. RESULT: The patients included in this study aged from 9 months to 6 years [(27.9 ± 15.8) m] and were healthy before admission. They were febrile for 8 to 50 days [(27.7 ± 13.5) d] and hospital day was 24 - 55 days [(36.5 ± 8.3) d]. The general condition of all subjects was relatively poor and they all had fever and cough. One child had moderate fever and nineteen children had high fever. Dyspnea was found in sixteen children. Fine rales were found on auscultation in 18 children, among whom diffuse wheeze appeared in 4 children, and wheezy phlegm was found in two children. Signs of pleural effusion were discovered in all cases by physical examination and chest X-ray. White blood cell (WBC) count was 16.2 - 60.95×10(9)/L and neutrophil was 70.5% - 80.2% in peripheral blood routine test. Erythrocyte sedimentation rate (ESR) was 44 - 109 mm/h [(69.6 ± 16) mm/h]and C-reactive protein (CRP) was 80 - > 160 mg/L. The pleural effusion biochemistry and routine test revealed a WBC count of 6400×10(6)/L-too much to count, polykaryocyte of 51% - 90%, glucose of 0.02 - 1.8 mmol/L, protein of 32 - 51 g/L and LDH of 5475 IU/L-or higher. Pleural effusion culture in all cases and blood culture in 2 cases was positive for Streptococcus pneumoniae. Chest X-ray or CT revealed high density and well-distributed lobar consolidation in one lung or two lungs initially. Single or multiple low density lesions in the area of lobar consolidation were found a week later, accompanied by multiple cystic shadow or cavity at the same time or afterwards. Bulla of lung appeared later. Pleural effusions were found in all patients. Seven cases complicated with hydropneumothorax, two with otitis media, one with heart failure, one with cardiac insufficiency. Seventeen patients were treated with vancomycin or teicoplanin or linezolid two with amoxicillin and clavulanate potassium. Other two patients had been treated with meropenem and cephalosporin antibiotics respectively before admission, and they had been at recovery stage when they were hospitalized. Thoracic close drainage and thoracoscopy were performed respectively in 18 cases and 3 cases, respectively. After a follow up of more than 6 months, chest CT showed that almost all lesions in lungs recovered during 4-6 months. No one received pneumonectomy. CONCLUSION: SPNP has special manifestations. The incidence in infants is higher. Patients' general condition is poor and febrile course is relatively long. All patients manifested fever and cough, with a presence of dyspnea in most of them. WBC, neutrophil and CRP elevated apparently. The characteristic of pleural effusion indicates empyema. In early stage, the chest X-ray and CT showed high-density lobar lesions, followed by low-density lesions and cyst gradually. Bulla of lung and/or hydropneumothorax may appear at the late stage. But if diagnosed and treated promptly, the prognosis of SPNP was relatively good.

[Analysis of clinical manifestations and diagnosis of 102 children with bronchial tuberculosis].

OBJECTIVE: Most of Endobronchial tuberculosis (EBTB) of children is caused by the bronchial erosion from the scrofula close to the bronchus. Due to its complicated mechanism, pediatricians have limited knowledge on the endobronchial tuberculosis, which makes the misdiagnosis rate high. This work explored the clinical features and diagnostic methods of endobronchial tuberculosis (EBTB), to improve the understanding of this disease. METHOD: A total of 102 cases with endobronchial tuberculosis (EBTB) were investigated by analyzing clinical and bronchoscopic features, imaging manifestation, PPD results and etiological examination; 71 cases were male, 33 were female, the youngest was 4 months old, and the oldest was 10 years old. The patients were treated in the fourth ward of the Department of Internal Medicine, Beijing Children's Hospital, Capital Medical University. RESULT: Of the 102 cases, 71 (69.6 percent) were infants and young children. (1) Age and clinical presentation: Infants and young children were more common, the main clinical manifestations were fever and cough, physical examination may find decreased breath sounds, wet and dry rale and wheezing. (2) In 81 cases who received CT there was bronchial obstruction, in 43 cases there were simultaneous manifestations of primary pulmonary tuberculosis (mediastinal and hilar lymph node enlargement and/or pulmonary consolidation), 21 cases had only manifestations of primary tuberculo. (3) The results of PPD: the positive rate was 95%. (4) Bronchoscopic feature: presence of mucosal swelling, caseous necrosis, bronchial stenosis/extrabronchial compression, granulomatous lesions and lymph node bronchial fistula. (5) Bacteriologic results: 21 patients were bacteriologically positive. CONCLUSION: Bronchial tuberculosis was more common in infants and young children, their major clinical manifestations were fever, cough, common findings on lung imaging was mediastinal and hilar lymph node enlargement and/or pulmonary consolidation, bronchial obstruction should be considered manifestations of bronchial tuberculosis, positive PPD should support the clinical diagnosis. Diagnosis can be confirmed by positive bacteriological tests.

[Clinical manifestations and gene analysis of 2 Chinese children with cystic fibrosis].

OBJECTIVE: Cystic fibrosis (CF) is rare in Chinese mainland. We present two cases of CF patients diagnosed by gene analysis. Their clinical manifestations and genetic mutation features are analyzed in this article. It will be of special interest to pediatricians in recognition of CF. METHOD: The clinical material of two CF patients who were diagnosed by gene analysis was retrospectively analyzed. RESULT: The first patient is a 13-year-old girl. She had a complaint of recurrent fever and cough for 6 months, expectoration for 2 months and hemoptysis for 20 days. After 3 months of her birth, she was operated on for bullae of lung. She was susceptible to upper respiratory tract infection. There was no family history of recurrent wheeze and other special diseases. Aspergillus fumigatus specific IgE was at grade 3 and aspergillus fumigatus IgG was high. Pseudomonas aeruginosa was positive in sputum culture. Sweat testing was performed and Na+ was higher. Pulmonary CT indicated bronchiectasis. Nasal sinus CT showed optical density of soft tissue within maxillary sinus and chronic bilateral sinusitis. The electron microscopy of cilia suggested immobile cilia syndrome. A heterozygotic mutation (263T > G, 2909G > A) was found after CFTR genetic mutation analysis. Both her parents were carriers. She was treated with inhalation of nebulized hypertonic saline and postural drainage for a long time. And she got better during a follow up period of 1 year. The second patient was a 10-year-old girl who complained of recurrent expectoration for 3 years and shortness of breath for half a year. She had a history of sinusitis and steatorrhea. The family history was normal. Both the lipase and insulin level in blood serum was lower.Pseudomonas aerugino and Aspergillus fumigatus were both positive in sputum culture. Aspergillus fumigatus IgE was normal. Pulmonary CT indicated bronchiolitis and bronchiectasis. Nasal sinus CT showed bilateral maxillary sinusitis. CFTR genetic mutation analysis revealed a homozygous mutation (3196C > T). Her parents and relatives did not participate in this study. Unfortunately, this child died of respiratory failure 3 months after discharge. CONCLUSION: CFTR gene mutation was a main cause of CF. Common symptoms are those of bronchiectasis, pancreatitis and sinusitis. The two Chinese patients were diagnosed by gene analysis. One had a heterozygous mutation (263T > G, 2909G > A) and the other had a homozygous mutation (3196C > T), not ΔF508 which is common in western countries.

[Clinical characteristics and predictive factors of refractory Mycoplasma pneumoniae pneumonia].

OBJECTIVE: To investigate clinical characteristics and predictive factors of refractory Mycoplasma pneumoniae pneumonia (RMPP) in children so as to recognize and treat the disease earlier. METHOD: The data including febrile time, inflammatory markers (WBC, neutrophil, CRP) and radiological features of 213 children hospitalized with Mycoplasma pneumoniae pneumonia (MPP) (72 with refractory MPP and 141 with mild MPP were retrospectively analyzed). The primary diagnostic criteria of refractory MPP: the patient's condition still deteriorates after treatment with macrolides for more than 5 days. The independent variables which had significant difference in univariate analysis was analyzed by multivariate logistic regression analysis. The predictive criteria of RMPP were further applied in 100 other patients prospectively. Kappa test was used to evaluate the accuracy rate. RESULT: Refractory MPP patients: febrile time was more than 10 days, white blood cell (WBC) count was (3.8 - 18.5)×10(9)/L in peripheral blood routine test, CRP was 38 mg/L - > 160 mg/L, large lobar consolidation with high density (> 2/3 pulmonary lobe, CT value 40 - 50 HU, without air bronchogram). Mild MPP patients: febrile time was less than 10 days, CRP was often less than 40 mg/L. Independent risk factors for RMPP were febrile time, CRP, large consolidation area with high density in lungs with or without pleural effusion (OR = 1.586, P = 0.017; OR = 4.344, P = 0.001; OR = 2.660, P = 0.012), CT value 40 - 50 HU which were demonstrated by logistic regression analysis. The specificity, sensitivity and Youden index for this diagnostic test were respectively 0.96, 0.94 and 0.90 at a CRP cut off of 40 mg/L. The sensitivity, specificity, and Kappa value for the above criteria to diagnose RMPP were respectively 0.96, 0.94 and 0.9. CONCLUSION: The predictive factors for RMPP are febrile time (> 10 days), CRP (> 40 mg/L), large lobar consolidation with high density (> 2/3 pulmonary lobe, CT value > 40 HU with or without pleural effusion) for the purpose of treating earlier.

[Clinical features and molecular analysis of 2 Chinese children with autosomal recessive chronic granulomatous disease caused by CYBA mutations].

OBJECTIVE: To summarize clinical and molecular features of two children with autosomal recessive chronic granulomatous disease caused by CYBA mutations. METHOD: The clinical records and CYBA mutations were reviewed for analysis of infections and inflammatory complications. RESULT: The first case was a girl diagnosed with "liver and spleen abscess" in our hospital when she was 2.9 years old, with past history of neonatal impetigo and recurrent purulent lymphadenitis and positive family history. The results of DHR123 flow-cytometry showed that positive phagocytes after phorbol ester (PMA) stimulation was 84.63%. CYBA mutation analysis showed that she had heterozygous 35C > T, Q3X and IVS-2A > G. The second case was a boy diagnosed with "sepsis (salmonella D)" when he was 4 years old with a past history of impetigo, sepsis, perianal abscess, skin infection and positive family history. The results of flow cytometry showed that positive phagocytes after PMA stimulation was 96.13%. CYBA mutation analysis showed that he had homozygous 35C > T, Q3X and his parents were all carriers. All of them had BCG related axillary lymphnode calcification. CONCLUSION: A22CGD cases had recurrent purulent infections (skin, lymphnode, liver and spleen, lung, blood), DHR123 flow cytometric analysis helped the diagnosis of CGD, CYBA mutation analysis ascertained the diagnosis of A22CGD.