Objective : To investigate whole genome information of a newly isolatedBifidobacterium animalissubsp. lactic B4 strain from healthy human feces was analyzed and its probiotic properties. Methods : The antimicrobial resistance, hemolytic, gastric acid tolerance and biochemical characteristics of B. animalis B4 were evaluated byin vitroexperiments, and its whole genome was sequentially sequenced and functional annotation was performed by next and three-generation sequencing technology. Results: Whole genome sequencing of B. animalis B4 showed that its genome size was 1 944 146 bp, with GC content of 60.49%, no plasmid, and a total of 1 642 genes. The results ofin vitroanalysis showed that the B. animalis B4 had good probiotic properties, including non-hemolytic and stomach acid resistance. At the same time, the genome results showed that the B. animalis B4 strain did not have toxin and disease-related genes, drug resistance genes were few and the transmission ability was not high, so it had high safety. Gene annotation of KEGG, COG and GO showed that it contained many biological active enzymes, such as β-galactosidase, L-lactate dehydrogenase and other probiotic genes. Conclusion The B. animalis B4 has good probiotic properties, showing excellent safety at the genetic level, with a probiotic gene sequence.

Performance appraisal of public hospitals have given a guidance for the development of public hospitals at all levels.A Class A tertiary hospital reviewed the problems in the development of the hospital at the present stage and focused on the following four aspects:①insufficient fine management;②No clear orientation of discipline development;③The bottleneck of the improvement of medical operation efficiency;④New challenges in the reform of payment mode.The tertiary hospital launched a fine management practice in May 2022,in order to solve the problems by taking the Department of Surgery as a pilot area,laying the foundation for fine management through information system construction,improving the efficiency of medical operation through management process optimization,improving the overall competitiveness of disciplines through the construction of sub-specialty and Discipline Alliance and adjusting the performance appraisal index system to play the role of performance incentives.The measures effectively improve the overall capacity and efficiency of hospital medical services and help the hospital to achieve high-quality development.

【Objective】 To investigate the clinicopathological characteristics and prognosis of solitary fibrous tumor (SFT) in the retroperitoneum. 【Methods】 We summarized the clinical and prognostic data of nine patients admitted to The First Affiliated Hospital of Xi’an Jiaotong University between January 2007 and December 2017 who were diagnosed with SFT by surgical resection and pathological examination. Nine cases of retroperitoneal SFT were detected by HE and immunohistochemical SP method. The expressions of Vimintin (Vim), CD34, CD99, Ki-67, Bcl-2 and S-100 in tumor cells were analyzed for their clinicopathological characteristics and prognosis. 【Results】 Among the nine patients, four were male and five were female, aged 37-69 years old. Five of them showed abdominal distension, while the other four had no obvious clinical symptoms. The tumor size was (1.0 cm×1.0 cm×2.0 cm)-(30.0 cm×25.0 cm×10.0 cm). There were seven single cases and two multiple cases. Histology showed bundle-shaped, braided spindle cells and collagen fibers of varying degrees, accompanied by mucinous degeneration and hemangiopericytoma-like morphology. Immunohistochemical results were as follows: The positive rate was 100% (9/9) for Vim, CD34 and CD99, 77% (7/9) for Ki-67, 67% (6/9) for Bcl-2, and 22% (2/9) for S-100. All the patients were followed up effectively. Two of them died (the cause of death was not related to the disease studied, and the survival time from postoperative to death was 6.5 years and 8.3 years, respectively). One surviving case relapsed 3 years after the operation, but did not recur after the second operation. No recurrence or metastasis was found in the remaining cases. 【Conclusion】 Retroperitoneal SFT is rare in the clinic, and there are no typical clinical symptoms in the early stage. Most of them are detected in physical check-ups. Ultrasound and CT examinations are the main preoperative examination methods, but they are not specific to SFT. Pathological examination is the only method for diagnosis. Radical resection is the first-choice of treatment. The preferred method for this disease is effective in early radical surgery and regular postoperative review.

Gastric bronchogenic cysts （GBCs） is uncommon with atypical clinical features. It is difficult to diagnose by preoperative imaging examinations. Therefore , postoperative histopatho-logical examination is regarded as the golden bacteria in ultimate diagnosis. The treatment of GBCs：ultrasound-guided fine needle aspiration and endoscopic mucosal resection is only used for small GBCs with intra-cavity growth pattern. However , GBCs with extra-cavity growth pattern is featured with deeply anatomical position , large size , and prone on attaching to vital blood vessels and organs , which makes laparoscopic resection is the first choice in treatment. The authors introduce the diagnosis and treatment of a case of GBCs attaching to lesser curvature , in order to provide references for clinical diagnosis of GBCs.

OBJECTIVETo detect pathogenic mutation of the SLC39A4 gene in a male patient with acrodermatitis enteropathica (AE).

METHODSPeripheral venous blood sample and clinical data from the patient and his parents were collected. One hundred unrelated healthy individuals were recruited as controls. All coding exons and flanking exon-intron sequences of the SLC39A4 gene were analyzed by PCR and direct sequencing.

RESULTSThe results revealed that the patient and his mother have both carried a novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) in exon 6. A novel nonsense mutation c.958C to T (p.Q320X) in exon 5 was also detected in the patient and his father and grandmother. This novel mutation was not detected in the unaffected family members and 100 unrelated healthy controls.

CONCLUSIONThe novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) derived from the mother and nonsense mutation c.958C to T (p.Q320X) of the SLC39A4 gene derived from the father may underlie the disease in the patient.

Acrodermatitis ; genetics ; Adolescent ; Base Sequence ; Cation Transport Proteins ; genetics ; Exons ; Homozygote ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Zinc ; deficiency

OBJECTIVETo identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC).

METHODSFor five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing.

RESULTSFor one family, a novel missense mutation c.1964C>T (p.S655F) was detected in the exon 19 of the TSC2 gene. For the sporadic patient, a repeat substitution with deletion mutation c.5238-5255delCATCAAGCGGCTCCGCCA (p.His1746GlnfsX56) was detected in the exon 40 of the TSC2 gene, which led to a stop codon TGA after the 56th amino acids. No mutation was found in another family.

CONCLUSIONThe missense mutation c.1964C>T(P.S655F) and the substitution with deletion mutation 5238-5255delCATCAAGCGGCTCCGCCA(p.His1746GlnfsX56) of the TSC2 gene probably underlie the disease in the first family and the sporadic case.

Adolescent ; Adult ; Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; Tuberous Sclerosis ; genetics ; Tumor Suppressor Proteins ; genetics

OBJECTIVETo identify potential mutation of the ADAR1 gene in a Chinese family and a sporadic case affected with dyschromatosis symmetrica hereditaria(DSH).

METHODSClinical data and peripheral blood samples from the pedigree and the sporadic patient were collected. Following extraction of genomic DNA, all 15 exons and exon-intron flanking sequences of the ADAR1 gene were amplified by polymerase chain reaction and subjected to direct sequencing.

RESULTSA novel frame-shift mutation c.2638delG (p.Asp880ThrfsX15) from the patients of the pedigree was detected in exon 8 of the ADAR1 gene. And a novel nonsense mutation c.2867C>A (p.Ser956X) was detected in exon 10 of the ADAR1 gene from the sporadic case. Neither mutation was identified among the unaffected family members nor 100 unrelated healthy controls.

CONCLUSIONThe frame-shift mutation c.2638delG (p.Asp880ThrfsX15) and the nonsense mutation c.2867C>A (p.Ser956X) in the ADAR1 gene probably underlie the DSH in our patients.

Adenosine Deaminase ; genetics ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Codon, Nonsense ; Exons ; Female ; Frameshift Mutation ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Pigmentation Disorders ; congenital ; enzymology ; genetics ; RNA-Binding Proteins ; genetics

OBJECTIVETo identify pathogenic mutation of the TSC1 and TSC2 genes in a patient with tuberous sclerosis.

METHODSPeripheral venous blood samples and clinical data of a pregnant woman with tuberous sclerosis and 4 family members (parents, uncle and husband) were collected. Genomic DNA was extracted. All coding exons of the TSC1 and TSC2 genes and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing.

RESULTSThe patient has presented facial angiofibroma and prefrons fibrous plaque for 20 years, and lumbar connective tissue nevus for 10 years. She also had mental retardation but no epilepsy. A novel frame-shift mutation c.4258-4261delTCAG was detected in exon 34 of the TSC2 gene, which had led to a premature stop codon TAG after the 55th amino acids. The same mutation was not found in the unaffected family members and 100 unrelated healthy controls.

CONCLUSIONThe novel frame-shifting mutation c.4258-4261delTCAG (p.Ser1420GlyfsX55) in the TSC2 gene may be responsible for the disease in the patient.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Pregnancy ; Tuberous Sclerosis ; genetics ; Tumor Suppressor Proteins ; genetics ; Young Adult

Objective To evaluate the effect of Dermlin,an inorganic activity induced skin wound dressing,in combination with a nano-silver dressing,on chronic diabetic foot ulcer.Methods A total of 93 elderly diabetic patients with chronic foot ulcer were recruited and randomly assigned into the treatment group and the control group.In additional to routine systemic and topical treatment for both groups,the treatment group was given a combination of Dermlin and nano silver dressngs,while for the control group,iodophor gause was used to cover the ulcer.The two groups were compared on ulcer grading,wound healing time and positive rate of bacterial culture.Results The wound healing time in the treatment group was significantly shorter than that in the control group [(41.6±2.7) d vs.(61.9±2.9) d,t=-35.09,P=0.000].Positive rates of bacterial culture for the treatment group at admission,14 d after admission and 28 d after admission were 88.46％,23.07％ and 15.38％,respectively,in contrast to 88.89％,59.26％ and 40.74,respectively,for the control group at the same time points (x2 =0.01,6.88,7.34,P=0.065,0.008,0.006).The rate of effectiveness for the control group was 63.83％ (30/47),clearly lower than the 82.61％ for the treatment group (38/46) (x2=4.17,P=0.035).The patients' foot ulcers were graded using the Wagner system.In the treatment group,27 patients with grade 2 ulcers showed an 88.89％effectiveness rate (24/27),considerably higher than the rate of 67.86％ in the control group (18/28)(x2=4.60,P=0.032).For grade 3 ulcers,the effectiveness rate was 73.86％ (14/19) for the treatment group and 63.15％ for the control group (12/19),with no statistical difference between the two groups (x2=0.49,P=0.364).Conclusions The combination of Dermlin and Nanosilver can promote healing for grade 2 chronic diabetic foot ulcers,but has no obvious effect on grade 3 ulcers.

10.3969/j.issn.2095-4344.2013.26.012