Objective To investigate pathogenesis, clinical and pathological feature of a case of nemaline myopathy and review of relevant researches. Methods A ease of an 8-year-old girl with muscle weakness and her clinical presentation, family history, changes of serum enzymology and EMG, characteristic of light and electron microscopic studies were described. The earlier literature and new genetic findings concerning these muscle abnormalities are also briefly summarized. Results Nemaline myopathy is diagonosed by clinical manifestation and observed result of electron microscopy. Conclusions Muscle biopsy is the only way to diagnose nemaline myopathy and electron microscopy plays an important role in diagnosing it.

Diffuse alveolar hemorrhage (DAH) is a life threatening clinical syndrome caused by a variety of causes.Early identification and etiological diagnosis of DAH in children are challenging.Despite some advances have been made in the identification and management of DAH,the mortality rate is still high.This article aims to raise the cognition of clinicians on DAH by providing a general review of some recent researches.

Objective To evaluate the relationship between airway inflammation before treatment and asthma status and response to inhaled corticosteroids treatment in children with mild or moderate asthma. Methods Eighty-seven children diagnosed with mild or moderate asthma were enrolled as study group, 20 healthy children as control group. Sputum induction, cellular differential count, and the assaying of mediators in sputum supernatant were performed before treatment with corticosteroids. Eosinophil cationic protein were measured by enzyme-linked fluorescent assay, interleukin-8 and transforming growth factor-β_1 (TGF-β_1) were measured by enzyme linked immunosorbent assay. Pulmonary function tests were performed for small airway function on the baseline and methacholine bronchial provocation tests were performed to screen airway hyperresponsiveness. SPSS13.0 software was used to analyze the data. Results (1) Among the 87 patients, 64 patients were studied as eosinophil asthma (EA) group, 23 patients as non-eosinophil asthma (NEA) group according to the ratio of eosinophils in sputum. The percentages of inflammatory cells and level of ECP, IL-8 were of significant difference between the two groups (P < 0.05), other indexes as FEV_1% pred, PEF% pred, moderate-severe AHR%. small airway function were also of significant difference between the two groups (P < 0.05). (2) Patients in EA group showed significant improvement in pulmonary function, bronchial hyperresponsiveness and small airway function after treatment with inhaled corticosteroids compared with NEA group. (3) Multiple stepwise regression analysis showed that among the different baseline variants considered only baseline FEVl%pred, sputum eosinophil percentages (EOS%), sputum TGF-β_1 significantly correlated with the response to inhaled cortieosteroids, moreover, sputum eosinophil percentages had the closest correlation (β= 0.583, t = 6.214, P < 0.05). Conclusions There were different patterns of airways inflammation in children with mild or moderate asthma. Sputum eosinophilia was associated with asthma status. Low sputum eosinophils, low FEV_1%pred, high sputum TGF-β_1 before treatment predict poor response to treatment with inhaled corticosteroids. Evaluation of those baseline indexes may be helpful to an individualized therapeutic regime.

Bronchopulmonary Dysplasia ; diagnostic imaging ; pathology ; therapy ; Female ; Glycogen Storage Disease ; diagnosis ; pathology ; therapy ; Humans ; Infant ; Infant, Newborn ; Lung ; diagnostic imaging ; growth & development ; pathology ; Lung Diseases, Interstitial ; classification ; diagnosis ; pathology ; therapy ; Male ; Neurosecretory Systems ; pathology ; Pediatrics ; Tomography, X-Ray Computed

Biopsy ; China ; epidemiology ; Diagnosis, Differential ; Humans ; Infant ; Infant, Newborn ; Lung ; pathology ; Lung Diseases, Interstitial ; diagnosis ; pathology

Objective To investigate the distribution of surfactant protein-B(SP-B) gene single nucleotide polymorphisms and to clarify the correlation between SP-B gene polymorphisms and idiopathic interstitial lung disease(ILD) in children.Methods Sixty-seven children with idiopathic ILD(case group) and 102 children without idiopathic ILD(control group)were selected from October 2013 to September 2016 in Shenzhen Children's Hospital and the First Affiliated Hospital of Guangxi Medical University.Total exons and flanking region of SP-B were detected by high-throughput sequencing,genotype and allele distribution of exon 4(T131I)were analyzed.Results SP-B exon 4(T131I) genotypes could check out three genotypes:namely CC,CT and TT.The frequencies of genotype CC,CT and TT of exon 4(T131I) in the case group were 67.16%,25.37%,7.46%,and in the control group were 56.86%,35.29%,7.84%,respectively.There was no significant difference in genotype distribution between the two groups(χ2=1.981,P=0.371).Frequency of allele C was 79.85% in the case group and 74.51% in the control group,no significant difference showed between the two groups(χ2=1.288,P=0.256).In the control group,the mutation frequency of SP-B exon 4(T131I) was 43.14%(44/102),compared to the frequency of mutations in the population data in the thousands of human genome programs was 52.00%,in European was 53.88%,in South Asia was 45.50%,and in American was 41.93%(P>0.05);but the frequency of gene mutations was 26.39% in East Asia and 80.18% in Africa,there were significant differences compared to the control group(P<0.05).Conclusion The genetic polymorphism of SP-B exon 4(T131I)is not correlated with the susceptibility of idiopathic ILD in children.The mutation frequency of SP-B exon 4(T131I)is related to the race and the region.

Objective To explore the clinical and genetic characteristics,protein expression of Wiskott-Aldrich syndrome (WAS).Methods 1.Clinical data of a Chinese sick boy patient who was treated in the First Affiliated Hospital of Guangxi Medical University was collected,and DNA samples were obtained from the patient and his mother,12 WAS gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing,and then the protein expression was analyzed by Western blot.2.China National Knowledge Infrastructure (CNKI) was searched to identify the clinical data and clear genetic diagnosis of WAS literature from Jan.1991 to Oet.2013,combined with the case of WAS patient treated in this hospital,and a retrospective relationship analysis was made among WAS phenotype,genotype and protein phenotype in China.Results 1.The boy had a classical WAS phenotype,his clinical scores were 4.Sequencing revealed a nonsense mutation in exon 1,c.71C ＞ T (p.R13X).Western blot analysis revealed WASP-.The patient's mother was normal It's a de novo mutation in the patient.2.Other 53 cases of WAS patients had been reported,and they were all are male children,onset age from 1 day to 3 years.Forty-nine cases of typical WAS views,4 cases of X-linked thrombocytopenia (XLT).Immunological tests lack of specificity,mutant gene distribute in each exons except 4,5,6,9,12 and 1,3,6,7,8,9,11 introns.Protein detection was mostly negative.Conclusions Affected males who presented recurrent infections,persistent thrombocytopenia and eczema,should be considered to have the possibility of suffering from the WAS.Genetic diagnosis is the golden standard to diagnose the disease.And detection of protein expression can help define the relationship amone phenotype,genotype and protein phenotype.

Congenital lung anomalies are rare lung diseases,which caused by the deformity of the anatomical structure of the respiratory system in the development during the embryonic development.At present,there is a lack of standardization of nomenclature and classification for children with congenital lung anomalies.Based on the most upto-date research and treatment,this paper classifies congenital lung anomalies into 5 broad categories:bronchial anomalies,vascular anomalies,pulmonary parenchyma anomalies,combined lung and vascular anomalies,pulmonary lymphatic vessels anomalies.Knowledge of these areas is essential for accurate,timely,diagnosis,which aids in optimizing patient outcomes.

OBJECTIVETo investigate the diagnosis and treatment of invasive pulmonary aspergillosis (IPA) in children.

METHODThe clinical data of 16 cases of proven or probable IPA who had been in our Hospital from January 2006 to June 2014 were retrospectively analyzed.

RESULTAmong the 16 patients, 11 were males and 5 were females. One child had proven IPA and 15 children had probable IPA. Host risk included long duration use of multiple broad-spectrum antibiotics in 16 cases, neutropenia in 9 cases, invasive mechanical ventilation in 3 cases, primary immunodeficiency disease in 2 cases, long-term use of glucocorticoids in 2 cases, measles in 2 cases, and congenital pulmonary hypoplasia in 1 case. Fever, cough and expectoration were present in all the children with IPA. At the time of diagnosis, the halo sign and subpleural wedge consolidation shadows were more common in neutropenia group (5/9, 7/9) than those in non-neutropenia group(0/7, 1/7)(P<0.05). The cavities and"air-crescent sign"were more common after 15 days to 1 month when the children had been treated with anti-aspergillosis drugs than that at the onset of diagnosis of IPA (P<0.05). The positive rate of serum galactomannan (GM) test was higher than that of sputum culture and serum G test (P<0.05). Thirteen children received voriconazole, in 7 of the children the treatment was effective.

CONCLUSIONNeutropenia were the common host risk factors in children with IPA. Subpleural wedge consolidation shadows, the halo sign and the"air-crescent"sign were highly suggestive of the diagnosis of IPA in children. Subpleural wedge consolidation shadows and the halo sign were more common in neutropenia group than in non-neutropenia group in the early stage of the course. Serum GM test played an important role in the diagnosis of IPA in children. Voriconazole was effective in majority of the children with IPA.

Anti-Bacterial Agents ; Aspergillosis ; Child ; Cough ; Female ; Fever ; Glucocorticoids ; Humans ; Male ; Mannans ; Measles ; Neutropenia ; Retrospective Studies ; Risk Factors ; Sputum ; Voriconazole

Objective To study the effect of inhibiting the phosphorylation of signal transducer and activator of transcription-3 (STAT3) on Th2 cell-mediated airway inflammation and airway remodeling,and to explore the role of STAT3 in the pathophysiology of bronchial asthma.Methods Forty Balb/c mice were randomly divided into control group(n =10),asthma group(n =10),AG490 by intraperitoneal group (n =10),and AG490 by inhalation group (n =10).The mice were sensitized with ovalbumin to establish the asthmatic model.The histological changes were evaluated by means of HE staining,while total broalchial wall thickness(Wat) and smooth muscle thickness(Wam) were measured by using image analysis system.The percentages of collagen deposition were detected by way of Masson's trichrome staining; the bronchoalveolar lavage fluid (BALF) were collected,the total cell and the cell differentials were counted,the levels of IL-4,IL-5 in BALF were measured by enzyme-linked immunosorbent assay; the lung tissue extracts were analyzed for phosphorylation of STAT3 (p-STAT3) by Western blot.The SPSS 13.0 software was used to analyze the data.Results 1.The histological changes by HE staining showed that less inflammatory cells infiltration in airway and around the pulmonary vascular in AG490 administration groups compared with asthmatic group.Wat,Wam and the percentages of collagen deposition in AG490 administration groups was significantly lower than that in asthmatic group(F =49.5,41.7,58.2,all P ＜ 0.05).2.The level of p-STAT3 in the lung of AG490 administration groups were significantly lower than those in asthmatic group(F =34.17,P ＜ 0.05).3.The total cells and eosinophils amounts in BALF of AG490 administration groups were significantly lower than those in asthmatic group (F =42.5,64.7,all P ＜ 0.05).The levels of IL-4,IL-5 in BALF of AG490 administration groups were significantly lower than those in asthmatic group,respectively (F =39.2,75.1,all P ＜ 0.05).Conclusions STAT3 signaling pathway is pivotal in Th2 cell-mediated airway inflammation and airway remodeling in asthmatic models,and AG490 can ameliorate airway inflammation and airway remodeling efficiently by inhibiting the phosphorylation of STAT3,and targeting this signaling pathway may be a novel therapy for asthma.