Objective To determine the clinical features and gene expression of neonatal chronic granulomatous disease(CGD) in newborns,in order to provide the evidence for early diagnosis,treatment and infection prophylaxis and so as to improve prognosis.Methods The clinical data of 6 neonates with CGD who hospitalized in Beijing Children's Hospital,Capital University of Medical Sciences,from Jan.to Dec.2013 were retrospectively analyzed,to summarize their clinical features and gene expression.Results All patients were male,mean age of onset in 6 patients was 19 days old.Six patients were onset with cough and fever,3 cases with skin abscesses.All patients had special lung images and their respiratory burst test were all positive.Six patients were all X-linked recessive heredity with mutation in CYBB gene,4 cases carried missense mutation,1 case carried frameshit mutation,1 case had shear point disappear.All patients were improved during hospitalization with anti-infective therapy including antifungal and antibiotic drugs.After their discharge,the patients were followed up for 1 year,among them 5 patients taking antibiotics according to doctor's advise hadn't got any severe infections or other complications,1 patient did not receive antibiotics according to doctor's advise,caught respiratory infection was occured once per 1-2 months and died of multiple organ failure in 5 months due to severe infection.Conclusions For newborn with respiratory symptoms such as cough and fever,with apparently nodular and massive radiologic infiltrates,CGD cases should be highly suspected.Long term prognosis is good in children with prophylactic medication and they may have a longer infection interval.

Objective To explore the value of adaptive statistical iterative reconstruction (ASIR) and a sharp recon kernel to obtain high resolution pulmonary images in low-dose pediatric chest CT scans.Methods Totally 42 children underwent low-dose chest CT scans with ASIR were included.Age dependent noise index (NI) was used for dose optimization:NI=12 for 0-12 months old,NI=15 for ＞1 2 years old,NI=17 for 3-6 years old and NI=20 for ≥7 years old.Images were reconstructed to 0.625 mm using different recon kernels:Soft,Standard,Lung,and Chest kernel.ASIR blending was varied from 0 100％ to provide balanced image noise and spatial resolution.Two radiologists independently evaluated images for normal lung structures,abnormal CT findings and image noise on a 5 point scale with 3 being clinically acceptable.The best kernel,as well as the match with the best ASIR weight were analyzed statistically.Results CT images with lung kernel and ASIR 60％ were rated substantially better than those kernel.Conclusion ASIR 60％ with a sharp lung kernel can significantly improve image quality in low dose pediatric chest CT scans.

Objective:To explore the clinical value of stereotactic wire-localized biopsy(SWLB)in digital mammography in the detection of microcalcification of the breast.Methods:A total of 45 patients with nonpalpable breast lesions which were positive for microcalcification by mammography but could not be detected clinically underwent SWLB.Their mammography fndings were analyzed in detail with pathology.Results:Among the 45 cases,13 cases(28.9%)had malignant lesions including ductal carcinoma in situ in 3 cases (20.1%),ductal carcinoma in situ with microinvasion in 4 cases(30.8%),invasive ductal carcinoma in 5 cases (38.5%)and intraductal papillary carcinoma in 1 case(7.7%).Thirty-two cases(71.1%)had benign lesions,2 cases(6.3%)of which were severe atypical hyperplasia.Conclusion:SWLB can accurately guide the surgical excision of nonpalpable breast microcalcification lesions and diagnose microcalcifications exactly,which is helpful for increasing the detection rate of eady-stage breast cancer.

Stroke is the second leading cause of death worldwide,and oxidative stress plays a crucial role.Celastrol exhibits strong antioxidant properties in several diseases;however,whether it can affect oxidation in cerebral ischemic-reperfusion injury(CIRI)remains unclear.This study aimed to determine whether celastrol could reduce oxidative damage during CIRI and to elucidate the underlying mechanisms.Here,we found that celastrol attenuated oxidative injury in CIRI by upregulating nuclear factor E2-related factor 2(Nrf2).Using alkynyl-tagged celastrol and liquid chromatography-tandem mass spectrometry,we showed that celastrol directly bound to neuronally expressed developmentally downregulated 4(Nedd4)and then released Nrf2 from Nedd4 in astrocytes.Nedd4 promoted the degradation of Nrf2 through K48-linked ubiquitination and thus contributed to astrocytic reactive oxygen species production in CIRI,which was significantly blocked by celastrol.Furthermore,by inhibiting oxidative stress and astrocyte activation,celastrol effectively rescued neurons from axon damage and apoptosis.Our study uncovered Nedd4 as a direct target of celastrol,and that celastrol exerts an antioxidative effect on as-trocytes by inhibiting the interaction between Nedd4 and Nrf2 and reducing Nrf2 degradation in CIRI.

Laboratory-based pathogen isolation, identification, and toxicity determination were performed on samples from a suspected case of infant botulism. Mice injected with cultures generated from the enema sample and ingested Powered infant formula (PIF) presented typical signs of botulism. Antitoxins to polyvalent botulinum neurotoxins (BoNTs) and monovalent BoNT type B antitoxin had protective effects. Clostridium botulinum isolated from the enema and residual PIF samples were positive for type B toxin. Pulsed-field gel electrophoresis (PFGE) revealed that the two strains of C. botulinum isolated from the two samples produced indistinguishable pulsotypes. These findings confirmed this case of type B infant botulism associated with the ingestion of PIF contaminated by type B C. botulinum spores.
Animals ; Beijing ; epidemiology ; Botulinum Toxins ; isolation & purification ; toxicity ; Botulism ; diagnosis ; epidemiology ; Clostridium botulinum ; isolation & purification ; Gastrointestinal Tract ; microbiology ; Humans ; Infant ; Mice ; Toxicity Tests