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 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.

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.

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.

Background and Objectives: To investigate the effect and the underlying mechanism of exosomes secreted by human umbilical cord mesenchymal stem cells (hUCMSCs) on diffuse alveolar hemorrhage (DAH) in murine lupus. Methods: and Results: Exosomes were extracted from cultured hUCMSCs by ultracentrifugation. The expressions of exosome markers (Alix, CD63 and TSG101) were measured for identification of hUCMSC-derived exosomes (hUCMSC-exosomes). The alveolar hemorrhage of DAH mice was revealed by H&E staining. The primary alveolar macrophages were isolated from bronchoalveolar lavage fluid (BALF) of DAH mice. The expressions of M1 macrophage markers (iNOS, IL-6, TNF-α and IL-1β ) and M2 macrophage markers (Arg1, IL-10, TGF-β and chi3l3) were detected. Flow cytometry measured the ratio of M1/M2 macrophages. ELISA measured the secretion of pro-inflammatory cytokines (IL-6 and TNF-α) and anti-inflammatory cytokines (IL-10 and TGF-β ). DAH mice had hemorrhage and small-vessel vasculitis in the lung, with neutrophil and monocyte infiltration observed around the capillary and small artery. Furthermore, increases of IL-6 and TNF-α, and decreases of IL-10 and TGF-β were detected in the BALF of DAH mice. M1 makers were overexpressed in alveolar macrophages of DAH mice while M2 makers were lowly expressed. DAH mice had a higher proportion of M1 macrophages than M2 macrophages. After hUCMSC-exosome or methylprednisolone treatment in DAH mice, the alveolar injuries and inflammatory responses were attenuated, and the proportion of M2 macrophages was increased. Conclusions hUCMSC-exosomes attenuate DAH-induced inflammatory responses and alveolar hemorrhage by regulating macrophage polarization.

Background and Objectives: To investigate the effect and the underlying mechanism of exosomes secreted by human umbilical cord mesenchymal stem cells (hUCMSCs) on diffuse alveolar hemorrhage (DAH) in murine lupus. Methods: and Results: Exosomes were extracted from cultured hUCMSCs by ultracentrifugation. The expressions of exosome markers (Alix, CD63 and TSG101) were measured for identification of hUCMSC-derived exosomes (hUCMSC-exosomes). The alveolar hemorrhage of DAH mice was revealed by H&E staining. The primary alveolar macrophages were isolated from bronchoalveolar lavage fluid (BALF) of DAH mice. The expressions of M1 macrophage markers (iNOS, IL-6, TNF-α and IL-1β ) and M2 macrophage markers (Arg1, IL-10, TGF-β and chi3l3) were detected. Flow cytometry measured the ratio of M1/M2 macrophages. ELISA measured the secretion of pro-inflammatory cytokines (IL-6 and TNF-α) and anti-inflammatory cytokines (IL-10 and TGF-β ). DAH mice had hemorrhage and small-vessel vasculitis in the lung, with neutrophil and monocyte infiltration observed around the capillary and small artery. Furthermore, increases of IL-6 and TNF-α, and decreases of IL-10 and TGF-β were detected in the BALF of DAH mice. M1 makers were overexpressed in alveolar macrophages of DAH mice while M2 makers were lowly expressed. DAH mice had a higher proportion of M1 macrophages than M2 macrophages. After hUCMSC-exosome or methylprednisolone treatment in DAH mice, the alveolar injuries and inflammatory responses were attenuated, and the proportion of M2 macrophages was increased. Conclusions hUCMSC-exosomes attenuate DAH-induced inflammatory responses and alveolar hemorrhage by regulating macrophage polarization.