Type 1 diabetes mellitus and autoimmune thyroid disorders are the most common combination of autoimmune polyendocrine syndrome type Ⅲ(APS Ⅲ). However, APS Ⅲ combined with myasthenia gravis is rare. We described a male patient with myasthenia gravis, type 1 diabetes mellitus, and Hashimoto thyroiditis, who was diagnosed as APS Ⅲ. The human leukocyte antigen (HLA)type was analyzed in this patient. We subsequently reviewed 11 cases of APS Ⅲ combined with myasthenia gravis. This review revealed that HLA-DR9/DQ9 might be a specific HLA subtype associated with APS Ⅲ and complicated with myasthenia gravis .

Objective To detect methylation of p16 gene in lung cancer tissues of non-small cell lung cancer patients,and to approach its clinical diagnostic value.Methods The methylation of p16 gene in DNA from 47 non-small cell lung cancer tissues and corresponding nomalignant tissues were tested with methylation-specific PCR(MSP).Results The total frequency of p16 methylation was significantly higher in lung cancer tissues than that in the corresponding malignant tissue(44.7%vs 17%)(P＜0.01).But there was no significant difference in detectiveness,clinical staging,clinical pathology type and clinical classification(P＞0.05).Conclusion The detection of methylation of p16 gene may be helpful to clinical diagnosis for non-small cell lung cancer,but its specify,sensitivity and feasibility need to be further studied.

Objective · To investigate the possible factors affecting the gastric emptying rate in patients with type 2 diabetes mellitus. Methods · 94 type 2 diabetic patients treated at the Department of Endocrinology of Renji Hospital affiliated toShanghai Jiao Tong University School of Medicine from September 2013 to March 2014 were enrolled. The half gastric emptying time (T1/2) and retention at 120 min (R120 min) were measured.Results · Female patients had longer T1/2 (P=0.000) and higher R120 min (P=0.000) than male patients. The differences in age, duration of iabetes,BMI, blood glucose level, chronic diabetic complications, and gastrointestinal symptoms between normal and delayed gastric emptying groups were not statistically significant. Acarbose had no effect on the gastric emptying rate in type 2 diabeticpatients. Conclusion · The gastric emptying rate in type 2 diabetic patients is associated with the gender and has no significant correlation with blood glucose level, chronic diabetic complications, gastrointestinal symptoms, and acarbose.

OBJECTIVETo investigate the genetic linkage between several cytokine and cytokine-related receptor gene loci and essential hypertension (EH) in Chinese.

METHODSLinkage between seven genetic markers and EH in 95 Chinese nuclear families with EH (including 477 subjects) was analyzed using a technique of fluorescence-based gene scan with DNA short tandem repeat loci. These markers were selected from the chromosomal regions nearby eight cytokines and their receptor genes. The two-point non-parametric linkage analysis (NPL), maximum Lod score and transmission/disequilibrium test (TDT) with GENEHUNTER software package were used in this study.

RESULTSResult of TDT showed significant transmission disequilibrium between D14S61 and EH (Chi square 14.29,P=0.00016) although NPL and Lod score revealed no significant linkage (Z=0.78, P>0.05 and Lod score =0.72 respectively) at this locus. No linkage between other loci typed and EH was found by the three genetic analysis methods (P>0.05 or Lod score<-1).

CONCLUSIONAlleles at D14S61 were of significant transmission disequilibrium in affected siblings. Transforming growth factor beta 3 is 0.1 cM away from D14S61, which suggests that the relationship between genes at or near this regions and EH needs to be further explored.

Adult ; Alleles ; Blood Glucose ; metabolism ; Blood Pressure ; physiology ; Body Mass Index ; China ; Cholesterol ; blood ; Cholesterol, HDL ; blood ; Cholesterol, LDL ; blood ; Cytokines ; genetics ; DNA ; genetics ; Family Health ; Female ; Genetic Linkage ; Humans ; Hypertension ; blood ; genetics ; physiopathology ; Linkage Disequilibrium ; Lod Score ; Male ; Microsatellite Repeats ; Middle Aged ; Receptors, Cytokine ; genetics ; Triglycerides ; blood

Objective:To explore the application value of co-management care pathway in elderly patients with thoracolumbar fractures.Methods:Totally, 104 elderly patients with thoracolumbar fractures were selected in Pingxiang No.2 People′s Hospital from January 2018 to August 2019. They were assigned to experimental group ( n=52) and control group ( n=52) by random number table method. The control group was given routine care, the experimental group implemented the intervention scheme of co-management care pathway on the basis of routine nursing. The effects were assessed by Elderly Frailty Assessment Scale and Barthel Index, respectively at 3 and 6 months after discharge. Results:Finally, 47 cases were included in the experimental group and 50 cases in the control group.After 3 months of intervention, the scores of Barthel Index were (71.87 ± 8.86) points in the experimental group, higher than in the control group (66.22 ± 8.99) points, the difference was statistically significant ( t=3.12, P<0.05). The scores of physiological and psychological frailty dimensions were (5.28 ± 1.06) points and (1.10 ± 0.25) points in the experimental group, lower than in the control group (5.78 ± 1.36) points and (1.27 ± 0.37) points, the difference was statistically significant ( t=2.04, 2.09, both P<0.05). After 6 months of intervention, the scores of physiological, psychological, cognitive dimensions and frailty total scores were (4.59 ± 1.17), (1.21 ± 0.44), (0.54 ± 0.14) points and (7.49 ± 1.21) points in the experimental group, lower than in the control group (5.24 ± 1.79), (1.49 ± 0.32), (0.67 ± 0.21) points and (8.51 ± 1.89) points, the differences were statistically significant ( t values were 2.11-3.51, all P<0.05). Conclusions:Co-management care pathway can effectively reduce the degree of frailty in elderly patients with thoracolumbar fractures, and improve the patients′ activities of daily living.

Objective:To explore the underlying genetic cause in two patients with mucopolysaccharidosis(MPS)using the whole-exome sequencing.Methods:Genomic DNA was extracted from the peripheral blood of two patients with MPS and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the mutation sites was analyzed by bioinformatics software. The effect of the splice mutation on mRNA was further determined by reverse transcription-PCR(RT-PCR).Results:The proband 1 was a 25-year-old male, who carried compound heterozygous mutations of α-L-iduronidas(IDUA) gene: p. T179R and p. S633L, and was diagnosed as MPSⅠ. His mother and sister carried heterozygous p. T179R, while his father carried heterozygous p. S633L, consistent with the autosomal recessive inheritance pattern. The proband 2 was a 3-year-old male, who was hemizygous for IVS 6-8A>G of iduronate-2-sulfatase(IDS) gene. His mother and grandmother were heterozygous for this mutation, consistent with the X-linked recessive inheritance. The proband 2 was diagnosed as MPSⅡ. Sequencing of RT-PCR products showed that the IVS 6-8A>G mutation activated an upstream cryptic splice-site in intron 6, leading to 7 nucleotide insertion in exon 7, frameshift, and shorter peptide chain.Conclusion:In this study, IDUA p. T179R and p. S633L, and IDS IVS 6-8A>G mutations were found in two patients with MPS by whole exome sequencing, which further expanded the genotypic and phenotype spectrum of MPS.

OBJECTIVETo verify the linkage of the candidate regions identified in a previous study (markers D2S168, D2S151, D2S142 on chromosome 2) with hypertension in Chinese families.

METHODSA genetic linkage study focused on chromosome 2 was performed on 240 Chinese families containing 856 patients with essential hypertension. A total of 1080 individuals were genotyped using 9 highly polymorphic microsatellite markers around the candidate regions on chromosome 2 with an average spacing of 5 cM. Non-parametric linkage (NPL), parametric linkage analysis and transmission-disequilibrium test (TDT) with the GENEHUNTER software were used to assess evidence for linkage.

RESULTSLinkage of a region on chromosome 2 around D2S151 and D2S142 with hypertension was confirmed by different statistical methods (NPL, LOD score and TDT). However, the linkage of D2S168 could not be replicated in this extension study.

CONCLUSIONSThe data suggest that a region on chromosome 2 at or near the loci of D2S142 and D2S151 may harbor genes responsible for the development of essential hypertension in Chinese.

Alleles ; China ; Chromosomes, Human, Pair 2 ; genetics ; Family Health ; Female ; Gene Frequency ; Genetic Linkage ; Humans ; Hypertension ; genetics ; Linkage Disequilibrium ; Male ; Microsatellite Repeats