Nonhuman primates(NHPs)are susceptible hosts of tuberculosis(TB).After infection,TB not only spreads among monkey populations but can also spread to humans.An effective vaccine to protect NHPs from TB has not been developed.Although prevention and control protocols have matured and reduced the incidence of TB among NHPs in captivity,outbreaks continue to occur.This article summarizes the worldwide epidemiological situation of TB in monkeys in captivity and in the wild,analyzes the advantages and disadvantages of commonly used detection method,and summarizes the most common practices of TB prevention and control in NHPs.Our findings indicate that TB poses a great threat to NHPs,underscoring the importance of raising awareness of TB among NHP breeding workers and managers.Additionally,our result provide a basis for improving current management procedures and offer valuable insights for TB diagnosis,prevention,and control in NHPs in China.

OBJECTIVE: To identify pathogenic mutation of TSC1 and TSC2 genes in a patient with long-time misdiagnosis of epilepsy. METHODS: Peripheral blood samples and clinical data of the patient and her 2 parents were collected. Potential mutation of TSC1 and TSC2 genes were detected by direct sequencing. RESULTS: The patient had frequent episodes of epilepsy in addition with Shagreen patches for 10 years. A frame-shifting mutation c.2509_2512delAACA was detected in exon 20 of the TSC1 gene. This same mutation was not found in her unaffected parents. CONCLUSION The recurrent frame-shifting mutation c.2509_2512delAACA (p.Asn837ValfsX11) of the TSC1 gene probably underlies the disease in this patient.
Diagnostic Errors ; Epilepsy ; diagnosis ; genetics ; Female ; Frameshift Mutation ; Humans ; Tuberous Sclerosis ; diagnosis ; genetics ; Tuberous Sclerosis Complex 1 Protein ; genetics ; Tuberous Sclerosis Complex 2 Protein ; genetics

Objective: To identify pathogenic mutation of TSC1 and TSC2 genes in a patient with long-time misdiagnosis of epilepsy. Methods: Peripheral blood samples and clinical data of the patient and her 2 parents were collected. Potential mutation of TSC1 and TSC2 genes were detected by direct sequencing. Results: The patient had frequent episodes of epilepsy in addition with Shagreen patches for 10 years. A frame-shifting mutation c. 2509_2512delAACA was detected in exon 20 of the TSC1 gene. This same mutation was not found in her unaffected parents. Conclusion The recurrent frame-shifting mutation c. 2509_2512delAACA (p.Asn837ValfsX11) of the TSC1 gene probably underlies the disease in this patient.

Objective: : To observe the short-term efficacy and toxicity of apatinib monotherapy as well as docetaxel plus cisplatin in advanced gastric cancer. Method: : According to inclusion and exclusion criteria, 108 patients with advanced gastric cancer in the 105th Hospital of PLA were selected. According to random table grouping method, there were 54 cases in group A and 54 cases in group B. Patients in group A received continuous oral administration of apatinib alone, while group B received docetaxel plus cisplatin chemotherapy, with 3 weeks as a cycle and 4 cycles for a course. The efficacy and side effects were evaluated 3 months later. Results: : In groupA, there were 4 cases of CR, 25 cases of PR, 18 cases of SD and 7 cases of PD; the ORR was 53.7% and DCR was 87%. In group B, there were 2 cases of CR, 19 cases of PR, 21 cases of SD and 12 cases of PD; the ORR was 38.9% and DCR was 77.8%. The ORR and DCR in group A were significantly better than those in group B (P<0.05). The main adverse reactions were gastrointestinal reaction, myelosuppression, hypertension and hand-foot syndrome, all of which were grade 1 to 2; The incidence of bone marrow suppression and gastrointestinal reaction in group A was lower than that in group B (P<0.05), while the incidence of hand-foot syndrome and hypertension in group B was lower than that in group A (P<0.01). Conclusion： ：The short-term efficacy of targeted therapy of apatinib alone was better than that of docetaxel combined with cisplatin chemotherapy, and the toxicity and side effects of both regimens were controllable;Apatinib can be used as the primary regimen for the treatment of advanced gastric cancer.

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

Objective To investigate the clinical features and changes of the patients with colorectal polyps in the recent 5 years of the Central Hospital of Jiangjin district.Methods Inpatients and outpatients with colorectal polyps found by colonoscopy were collected from January 2011 to December 2015 in Central Hospital of of Jiangjin district.Index of each patient's gender,age,the location,size,number and pathological results of each enrolled.Then the data were analyzed statistically.Results Patients with colorectal polyps in the ratio of male to female was 1.56:1(P＜0.05),middle and old aged group multiple (compared with the young group,P＜0.05);left half colon accounted for 53.0 ％ (P＜0.05),48.0 ％ of them were single shot,diameter≤ 1 cm accounted for most.Adenomatous polyp accounted for 71.0％,most of them were tubular adenoma (54.0％).29.9％ of patients with colorectal polyps had abdominal pain,29.0 ％ changed in bowel habits and traits,only 6.7 ％ of the patients had typical hematochezia.Conclusion According to the anlysis results there's no obvious changes happened on the clinical features of colorectal polyps in the past 5 years.

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

We established an ELISPOT for bovine interferon-gamma (BoIFN-γ), and applied it in the diagnosis of bovine tuberculosis (bTB). Monoclonal antibodies that can bind with native BoIFN-γ were screened as the coating antibody and detecting antibody. After optimization of detecting conditions including coating antibody concentration, cell number, and detecting antibody concentration, the ELISPOT assay was established. Peripheral mononuclear cells (PBMCs) isolated from 30 cows were co-cultured with PPD, and detected with the ELISPOT assay. The optimal conditions of ELISPOT assay were 2.5 μg/mL coating antibody 2G5, 2.5 x 10(5) cells/well, and 1 μg/mL detecting antibody Bio-5E11. In these 30 cows tested both with the ELISPOT assay and the BOVIGAM kit, 11 cows were proved to be positive in ELISOPT assay with the sensitivity of 78.6%, and 12 cows were proved to be negative in ELISOPT assay with the specificity of 75%. The ELISPOT assay for BoIFN-γ could be used to detect bTB efficiently and it might be an alternative method for the diagnosis of bTB.
Animals ; Antibodies, Monoclonal ; Cattle ; Enzyme-Linked Immunospot Assay ; veterinary ; Female ; Interferon-gamma ; isolation & purification ; Sensitivity and Specificity ; Tuberculosis, Bovine ; diagnosis

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