The therapy based upon individuality is becoming a trend Oil general surgery field which has been highlighted by lots of specialists,scholars and clinic doctors,and so as the therapy of inguinal hernia.Along with the rushing appearoace of new idea and technique,the problem up to the minite which is confusing clinic doctors is how to select proper method of inguinal hernia therapy.This article is focused on the therapy of inguinal hernia based upon individuality.

Objective To explore more reasonable way of early post-operative effect of enteral nutrition fluids support for colon cancer.Methods A total of 86 case of colon cancer were selected and assigned to enteral nutrition group(EN n=45)and parenteral nutrition group(PN n=41)randomly.Parameters inclu ding the body wetght,IsA,IgM,lymphocyte,human serum prealbumin and albumen were monitored on three days before operation,the fifth,and eighth days after operation.Results The IgA,IgM,lympho cyte,human serum prealbumin and albumen levels of patients in EN group were much higher than that in PN group on the fifth and eighth days after operation(P＜0.05).Also IgA,lgM levels of EN group patients were almost higher than that in PN group on eighth day after operation(P＜0.01).Concusions It showed that to perform enteral nutrient supports for patients of colon cancer during early post-operative could increase their gut immunity after operation and reduce the complications and raise human serum prealbumin and albu men of them for their body recovery.

Objective To evaluate the association between vitamin D deficiency and diabetic nephropathy in type 2 diabetic patients.Methods A total of 594 patients with type 2 diabetes were enrolled from the inpatients of the Nanjing Medical University Affiliated Nanjing Hospital.Fasting serum lipid profile,25-hydroxycalciferol vitamin D and urinary albumin excretion rate were investigated.The relationship between nephropathy and vitamin D deficiency (＜ 20 μg/L) or insufficiency (20-＜ 30 μg/L) was analyzed.Results Nephropathy was found in 177 subjects (29.8％) with albuminuria in 141 and proteinuria in 36 subjects.Vitamin D deficiency was found in 180 subjects and insufficiency in 157 subjects.The proportion of vitamin D deficiency was higher in the individuals with nephropathy than those without nephropathy (36.2％ vs 27.8％,P ＜0.05).The urinary albumin excretion rate was significantly higher in the patients with vitamin D deficiency than those with normal vitamin D concentration [(123.0 ± 299.2)mg/24h vs (47.6 ±97.1) mg/24h,P ＜0.01].The prevalence of nephropathy was higher in the patientswith vitamin D deficiency than those with normal vitamin D concentration (35.6％ vs 26.1％,P ＜ 0.05),while the prevalence of proteinuria was higher in patients with vitamin D deficency (12.2％ vs 3.1％,P ＜0.01).Logistic regression analysis demonstrated that vitamin D deficiency was associated with nephropathy (OR 1.57,95％ CI 1.04-2.37),even after the adjustment for age,gender,hypertension,dyslipidemia,smoking status,use of angiotensin-converting enzyme inhibitors or angiotensin receptor blockers (OR 1.78,95％ CI 1.12-2.81).The Vitamin D concentration was significantly negatively correlated with urinaryalbumin excretion rate (r =-1.783,P ＜ 0.001).Conclusions Type 2 diabetic patients have a high prevalence of vitamin D deficiency.Vitamin D deficiency is independently associated with diabetic nephropathy.

Objective To investigate the association between the six single nucleotide polymorphisms ( SNP),named as rs179247,rsl2101261,rs2284722,rs4903964,rs2300525,rsl7111394 in the intron 1 of thyroid stimulating hormone receptor gene (TSHR) and Graves' disease (GD).MethodsThe genotypes of the six SNPs were genotyped by Taqman probe technique on Fluidigm EP1 platform in 618 GD patients and 646 control subjects.Meanwhile,TSH receptor antibodies (TRAb) of the patients were determined.ResultsAmong the six SNPs,five S NPs were strongly associated with GD,with the most signals at rs179247_G,rs12101261_C,rs4903964 _G (P=2.85×10-10,OR=1.73,95％CI1.46-2.05;P=1.74×10-10,OR=1.73,95％CI 1.46-2.05;P=2.24×10-10,OR=1.69,95％ CI 1.44-1.99 ).The results of logistic regression analysis indicated that rs12101261 and rs4903964 were main susceptibility loci of GD in the intron 1 of TSHR.rs179247_G,rs1210126 1_C,and rs4903964_G were associated with subset of the GD patients with positive TRAb (P=4.24× 10-13,p=5.48× 10-13,P =3.89×10-12 ).Conclusionrs179247,rs12101261,and rs4903964 in TSHR intron 1 were significantly associated with GD in the Chinese Han population from Bengbu city.rs12101261 and rs4903964 were the major susceptibility SNPs associated with GD.TSHR gene may play a main role of susceptibility gene in the subset of GD patients with persistent positive TRAb.

Objective To investigate a Chinese pedigree suffering from Leydig cell hypoplasia ( LCH) based on clinical data and genetic diagnosis. Methods The patient was diagnosed by means of clinical data, hormone profiles, and human chorionic gonadotropin ( hCC) test. The luteinizing hormone/chorionic gonadotropin receptor(LHCGR) gene of the patient and family members was amplified and sequenced. Results The patient presented with male pseudohermaphroditism, low level of testosterone, which did not respond to hCG. Genetic analysis of the LHCGR revealed two novel mutations: a missense mutation located in exon 5, resulting in Ile replaced by Thr in the extracellular domain; and a splice site mutation in the 3' terminal of intron 6( IVS6-3 C→A). Proband's sister (46, XX) who lacked clinical manifestations showed the identical genotype with the patient. Conclusions A mutation in the consensus sequence of 3' splice site, in addition to a missense mutation (Ile 152Thr)in the extracellular ligand-binding domain is the cause of inactivation of the LHCGR gene in patient with Leydig cell hypoplasia.

Objective To analyze CYP17A1 gene mutation in a patient with 46,XY disordered sex development and to explore the possible influence on the phenotype of the patient.Methods Eight exons of CYP17AI gene in the patient and her parents were amplified and directly sequenced.In order to construct Mini-gene system,PCR fragments containing wildtype and mutant splicing sites were inserted in expression vector,and then transfected into cells.RT-PCR was used to observe the influence of splicing site mutation.Wildtype and aberrant splicing CYP17A1 cDNA expression plasmids were constructed and transfected into cells respectively,and CYP17A1 enzyme activity was tested in vitro.Results Mutation analysis revealed compound heterozygous CYP17A1 mutations,with Y329fs in one allele and a synonymous substitution( c.1263G＞A:GCG＞GCA) in another allele.In vitro analysis showed that the synonymous substitution induced a novel splicing site,which resulted in aberrant splicing of CYP17A1 mRNA and lacked six or seven amino acids after 415 in splicing product.In vitro transfection and enzyme activity experiment showed that the aberrant splicing product abolished the enzyme activity completely.However,this mutation did not completely influence splicing.The patient also had a part of normal splicing product,which was a coincidence to the phenotype of the patient.Conclusion This is the first description of an exonic splicing mutation in CYP17A1 relevant to the 17ot-hydroxylase deficiency phenotype.The functional study of the aberrant splicing variant has been initiated.

Objective To investigate the association between single nucleotide polymorphisms in the intron 1 of thyroid stimnulating hormone receptor gene (TSHR) and Graves' disease (GD) in the Chinese Han population from Linyi city,Shandong Province.Methods A total of 1759 GD patients and 1740 control subjects were recruited for genotyping in TSHR intron 1 with genome-wide association study (GWAS) and Taqman probe technique.At the same time,serum thyroid hormone and TSH receptor antibody (TRAb) levels of patients were determined.Results Five SNPs were selected for further replication.The rs12101261 _T was significantly associated with GD risk ( OR=1.257,95％CI 1.137-1.390,P =8.23 × 10-6 ). Logistic regression identified that rs12101261 was an independent susceptibility locus of GD ( P=1.61 × 10-3 ).Furthermore,rs12101261 _T was strongly associated with GD ( OR =1.317,95％ CI 1.171-1.481,P=4.14× 10-4 ) in TRAb positive patients,but no association in TRAb negative patients ( OR=1.056,95％ CI 0.892-1.251,P=0.524 ).Serum TRAb concentration showed remarkable difference among three genotype groups of rs12101261.Conclusions Five SNPs in TSHR intron 1 are associated with GD.rs12101261 contributes to increased GD risk independently and is associated with serum TRAb level.

To investigate the clinical features, genetic diagnosis, and treatment of a patient with Prader-Willi syndrome(PWS). For a case with clinically suspected PWS, methylation specific PCR(MSPCR)amplification was applied to CpG islands of SNRPN(exon α)gene locus in the 15q11-q13. Furthermore, the diagnosis was comfirmed by the method of bisulfite sequencing PCR(BSPCR). Metabolic status before and after the operation of sleeve gastrectomy were compared. Absence of amplification of paternal allele on chromosome 15q11-q13 was detected in the case by MSPCR, different from the normal control. Results of BSPCR further proved a full methylation of CpG islands in the SNRPN gene locus. Four months after sleeve gastrectomy, systemic metabolic status and ventricular function were improved. MSPCR and BSPCR were both consistent with genetic diagnosis of PWS. Weight loss surgery is expected to be a major therapy of this disease.

Objective To investigate the adrenal steroidogenic function in genotype-proven heterozygotes carrying mutations in CYP17A1 gene in vivo. Methods Eight patients and 14 family members from 5 families with 17-hydroxylase/17,20-lyase deficiency (17OHD) were recruited. The mutations of the CYP17A1 gene in these individuals were screened by direct sequencing of PCR products. The hormonal response to ACTH was evaluated in the 14 genotype-proven carriers and 45 age- and sex-matched normal subjects. Results Three mutations were found in 5 unrelated families. 14 carriers with CYP17A1 mutation were identified, including 7 heterozygotes with D487_F489del, 6 with Y329fs, and 1 for H373L. Compared to the normal subjects, the carriers exhibited lower basal and ACTH-stimulated cortisol levels, but higher ACTH-stimulated corticosterone level. The ratios of corticosterone to cortisol in the genotype-proven heterozygotes were higher than those of normal individuals at baseline and following ACTH-stimulation. Similarly, progesterone level and ratios of progesterone to 17-hydroxyprogesterone in the male heterozygotes were also higher than that of normal individuals before and after stimulation. No significant differences were observed in the hormone levels between two genotypes (D487_F489del vs Y329fs). Conclusions Genotype-proven carriers of 17OHD without apparent clinical symptoms exhibit decreased enzyme activity,analogous to mildly impaired adrenal 21-hydroxylase activity in the carriers of CYP21 A2 gene mutation.

Objective To analyze the present situation of glucose metabolism and the characteristics of blood glucose fluctuation in in-hospital type l diabetic patients (T1DM). Methods One hundred and forty-three hospitalized cases of T1DM patients from November 2012 to November 2016 were retrospectively analyzed.The percentage of adult-onset T1DM patients was 76.22%(109/143)and none adult-onset was 23.78%(34/143). The following data were collected: general information, the indexes of glucose metabolism and islet function.Seventy-two-hour continuous glucose monitoring(CGM) was carried on 40 patients as a subgroup.Results The average age was(40.29 ± 16.79)years.The onset age of diabetes was(33.57 ± 17.18)years.The disease duration was 4.0(1.0,10.0)years.The body mass index(BMI)was(20.68 ± 2.95)kg/m2.The fasting blood glucose(FBG)was(12.02 ± 5.40)mmol/L.The HbA1c was(9.80 ± 2.65)%.The fasting C-peptide was 0.08(0.01,0.38)nmol/L.The 2-hour postprandial C-peptide (C-P 2 h) was 0.12(0.01, 0.70) nmol/L. The anti-glutamic acid decarboxylase antibody was 12.08(8.16,20.56)μg/L.The islet-cell antibody was 4.85(2.66,12.07)μg/L.By using multivariate linear regression analysis, HbA1c were negatively related to the duration and BMI of T1DM. CGM: the mean blood glucose was (10.34 ± 2.97) mmol/L. The standard deviation of blood glucose was (2.89 ± 1.07) mmol/L. The mean amplitude glycemic excursions was (7.10 ± 3.09) mmol/L. The incidence of hypoglycemia was 10.00% (≤ 2.8 mmol/L) and 32.50% (≤ 3.9 mmol/L). Conclusions Adult-onset T1DM patients account for more than two-thirds. In-hospital T1DM patients have poor control of blood glucose, and they show the clinical characteristics of high blood glucose fluctuation and more hypoglycemia.