Objective To evaluate the value of furosemide in magnetic resonance urography(MRU) with low field magnet.Methods The routine MRU and MRU after administration of intravein of furosemide were performed with heavily T_2 weighted fast spin echo pulse sequence in 32 cases with urethral diseases.Then three-dimensional(3D) reconstruction for post procedure processing with a maximum-intensity projection(MIP)algorithm was done.Results On routine MRU,there were no image of collecting systems of kidney in 5 cases,and poor images of parenchyma and collecting systems of kidney in 18 cases after using furosemide before MRU,MRU provided high resolution images of parenchyma and collecting systems of kidney in all cases,and images were much clear,the localized diagnosis was accurate.Conclusion MRU using furosemide before scanning can display the parenchyma and collecting systems of kidney distinctively,so furosemide can be regarded as a routine method used before MRU with low field magnet.

After communication with professional course teachers, clinical experts and graduates by investigation, informal discussion and expert interviews, the course and teaching of rehabilitation therapy was reformed to make the students not only meet the skill requirement,but also acquire basic theory and sustainable develop in their career.

BACKGROUNDTo establish a cohort for the study of risk factors of lung cancer, and to support the study of early biomarkers and prevention of lung cancer.

METHODSDesigned a special population-based prospectively dynamic cohort among radon- and arsenic-exposed tin miners aged 40 or more years old with at least 10 years of occupational exposure in Yunnan Province, P.R.China. The mass screenings with sputum cytology and chest X-ray were conducted annually. The baseline information was collected for assessing demographic characteristics and risk factors. The multiple sputum specimens, chest radiographs and numerous biologic specimens have been collected and stored.

RESULTSFrom 1992-1999, 9143 miners have been enrolled and 460 new cases of lung cancer have been found. There had 47655 person-time chest radiographs and 46625 person-time sputum cytology among the cohort in 8 years. The relative risks of age-adjusted exposure to chronic bronchitis, silicosis, and tobacco were 1.73, 1.46, and 1.32 respectively.

CONCLUSIONSA cohort of unique occupationally-exposed tin miners with an extensive biologic specimen repository and data bank has been successfully established. Although occupational exposures are the predominant risk factors among the high risk miners, lung cancer risk is also associated with chronic obstructive lung disease (chronic bronchitis and silicosis) and a number of measures of exposure to tobacco smoke, including early age of first use, duration, and cumulative exposure.

Objective: To explore the genetic basis for a patient with autism. Methods: High-throughput sequencing was carried out to detect copy number variations in the patient. Results: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. Conclusion Partial deletion of the NRXN1 gene may underlie the disease in this patient.

OBJECTIVE: To explore the genetic basis for a patient with autism. METHODS: High-throughput sequencing was carried out to detect copy number variations in the patient. RESULTS: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. CONCLUSION Partial deletion of the NRXN1 gene may underlie the disease in this patient.
Autistic Disorder ; genetics ; Cell Adhesion Molecules, Neuronal ; genetics ; DNA Copy Number Variations ; Gene Deletion ; Humans ; Male ; Nerve Tissue Proteins ; genetics

Objective:To report the clinical, electrophysiological and genetic features in a Chinese family with distal hereditary motor neuropathy type V (dHMN-V) and screen the pathogenic mutant gene.Methods:A family with the history of inherited peripheral neuropathy was recruited in the First Affiliated Hospital of Zhengzhou University in July 2017. The clinical features and electrophysiological data were investigated. Genetic testing on well-established genes associated with hereditary peripheral neuropathy was conducted by targeted high throughput sequencing and the candidate variant was screened in the family and normal controls.Results:There were four affected individuals in the family. The proband, a 25-year-old male, was characterized by weakness and atrophy in the distal extremities primarily affected the upper extremities without sensory impairment. Electrophysiological study showed chronic neurogenic pattern in the upper and lower limb muscles. The motor conduction showed reduced velocity and compound muscle action potential amplitude, while the sensory conduction studies results were normal. The grandfather, a maternal uncle and a cousin of the proband exhibited similar clinical manifestations and electrophysiological abnormality. Genetic testing revealed a heterozygous mutation, c.880G>A(p.G294R), in the GARS gene in the proband. Proband′s mother and two other affected individuals carried the mutation which was confirmed by Sanger sequencing. The mutation site was not found in the unaffected members from the family and 300 unrelated normal controls. The variant is a novel mutation which has not been reported in dbSNP, ExAC and 1000 Genomes Project databases. Conclusion:The results suggest that the novel c.880G>A(p.G294R) mutation of the GARS gene is responsible for the Chinese patients with dHMN-V, and the findings broaden the mutational spectrum of GARS gene.

Objective To investigate the effects of calcitriol intervention on PI3K/AKT signaling pathway and wound healing in rats with diabetic foot ulcer(DFU).Methods Thirty-two male SD rats were divided into normal control(Con)group,DFU group,calcitriol low dose(L)group and calcitriol high dose(H)group.A circular wound of 5 mm in diameter and deep to the fascia was made on the dorsum of the left foot of rats in each group.HE staining was used to evaluate the histopathological changes of the wounds.Immunohistochemical method was selected to compare the distribution of CD34-positive cells and the expression of p-PI3K and p-AKT in traumatic tissues of each group.ELISA was adopted in the detection of serum IL-6,IFN-γ,TNF-α and IL-7.RT-PCR was used to detect the mRNA expression of PI3K and AKT in each group,and western blot was used to detect the protein expression of PI3K,p-PI3K,AKT,p-AKT and VEGF.Results Compared with Con group,the expressions of IL-6,IFN-γ,TNF-α,IL-7,CD34,PI3K mRNA,AKT mRNA,p-AKT protein,p-PI3K protein,p-PI3K/PI3K,p-AKT/AKT increased,while PI3K protein expression decreased in DFU,L and H groups(P<0.05),VEGF and AKT protein expression decreased in DFV and L groups(P<0.05).Compared with DFU group,the expressions of VEGF,AKT and PI3K protein increased(P<0.05),while the expressions of p-PI3K/PI3K,p-AKT/AKT decreased in L and H groups(P<0.05),IL-6 decreased in L group(P<0.05),and CD34 expression increased in H group(P<0.05),while IL-6,IFN-γ,TNF-α and IL-7,PI3K mRNA,AKT mRNA,p-AKT protein and p-PI3K protein expression decreased(P<0.05).Compared with L group,the expressions of CD34,VEGF,AKT and PI3K protein increased(P<0.05),while IL-6,PI3K mRNA,AKT mRNA,p-AKT protein,p-PI3K protein,p-PI3K/PI3K and p-AKT/AKT decreased in H group(P<0.05).Conclusions Calcitriol intervention may reduce the activity of the PI3K/AKT signaling pathway,inhibit inflammation,promote neovascularization,and facilitate wound healing in rats with DFU.