DHX37 gene heterozygous variant—a frequent cause of embryonic testicular regression syndrome / 中华内分泌代谢杂志

Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.

A novel mutation of the androgen receptor gene causes androgen insensitivity syndrome:a case report and literature review / 中华实用儿科临床杂志

Objective To explore the mutation of androgen receptor(AR)gene in a patient with 46,XY disorder of sex development(DSD)and to improve the diagnostic level and understanding of androgen insensitivity syndrome(AIS).Methods The clinical data of the child was analyzed,including physical examination,relevant laboratory examination,karyotype,pelvic B ultrasound,pelvic magnetic resonance imaging(MRI)and AR gene mutation.The peripheral blood of the child and his parents were drawn,and peripheral blood DNA was extracted.The polymerase chain reaction(PCR)-DNA sequencing method was used to amplify all exons of the AR gene in the child and his parents.Then,they were directly sequenced.Results A 7-years and 2-months old child who suffered from DSD,revealed physical examination that the child had normal female external genitalia,as the clitoris length was 2.0 cm×0.8 cm,with visible vaginal opening,and there were masses at bilateral inguinal region,with a size of 1.5 cm×0.8 cm.The results of human chorionic gonadotropin(HCG)stimulation test:testosterone was 0 nmol/L,androstenedione was 1.78 nmol/L,dihydrotestosterone was 0.07 nmol/L before HCG was injected;but testosterone was 4.69 nmol/L,androstenedione was 2.10 nmol/L,dihydrotestosterone was 0.33 nmol/L after HCG was injection.Sex chromosome analysis reported 46,XY karyotype.Pelvic B ultrasound revealed the absence of a uterus and ovaries and the presence of bilateral testes like gonad at each side of internal inguinal ring,with a size of 1.4 cm×1.0 cm×0.8 cm in the left,1.5 cm×0.7 cm×0.8 cm in the right;but the kidney,ureter,urinary bladder,adrenal gland and retroperitoneal for B ultrasound revealed no abnormality.Pelvic MRI(non-enhanced and enhanced)showed the presence of a blind ending vagina between rectum and urinary bladder(40 mm in depth)and the absence of uterus and ovarian tissue.DNA sequencing found one c.1685T>C heterozygous mutation(p.Ile562Thr)on exon 2 of AR gene in the child.But retrieving and summarzing documents of the domestic and foreign information databases and websites,the locus mutation of AR gene had never been reported.The structure prediction of the mutated protein(Polyohen2 and SIFT software)was significantly changed.By verifying the locus site of the parents of this child,it was found that his mother carried the same mutation,but his father was found to be normal.Conclusions A c.1685 T>C mutation(p.Ile562Thr)on exon 2 of AR gene is a novel mutation.Combined with the patient's clinical manifestations and computer prediction results,it may suggest that the novel mutation of AR gene can lead to the occurrence of AIS.

Laparoscopic radical resection of rectal cancer by natural orificespecimen extraction / 临床外科杂志

Objective To investigate the therapeutic effect of laparoscopic radical resection of rectal carcinoma via natural orificespecimen extraction(NOSE). Methods Laparoscopic resection of rec-tal carcinoma was performed using NOSE technique in 35 cases of rectal cancer from October 2013 to 2015 July. Analysis of clinical data,postoperative exhaust time,the number of resected lymph node,and anastomotic leakage rate was conducted. Results All 35 cases underwent laparoscopic radical resection of rectal cancer with successful anus preservation. There were no preventive transverse colostomy. Among them,the success rate of laparoscopic radical resection via NOSE for rectal cancer was 85. 71%(30 /35). The operation duration ranged from 105 to 186 min(mean 129. 50 min). Anal exhaust time was 22 to 80 h(average 38. 13 h). Postoperative hospital stay lasted for 9 ~ 21 days(mean 10. 27 d). Anas-tomotic leakage occurred in 1 case and puncture infection in 2 cases. Conclusion Laparoscopic radical resec-tion of rectal carcinoma in middle and low rectal cancer is safe and reliable,which is worthy of being spread.

Simvastatin prevents hypertrophy and keeps cardiac function in myocardium of rabbit with overlord by promoting PPAR gamma and inhibiting NF-kappa B / 中国药理学通报

Aim To observe the effects of simvastatin on PPARγ and p65 subunit of NF-κB and to invest the mechanism of simvastatin preventing hypertrophy and keeping cardiac function.Methods 24 rabbits were divided into 4 groups.Rabbits received sham operation as health control in group I. In other groups, aortic regurgitation and coarctation of ascending aorta were operated in rabbits.Rabbits received no drugs in Group Ⅱ. In group Ⅲ, rabbits were given simvastatin 5 mg·kg~(-1)·d~(-1) after the operation for 8 weeks. In group Ⅳ, rabbits were given simvastatin 5 mg·kg~(-1)·d~(-1) after 4 weeks of operation for 4 weeks. At the beginning and the end of the experiment, left ventricular end diastolic pressure (LVEDP) was measured with catheter. At the end of the experiment, heart weight (HW), left ventricular weight (LVW), body weight (BW), heart weight/body weight radio (HW/BW radio), left ventricular weight/body weight radio (LVW/BW radio) were measured.The PPARγ mRNA expression was analyzed by RT-PCR. PPARγ and p65 protein expression in cardiomyocyte nuclear were analyzed through Western blot. The activity of p65 was analyzed with EMSA.Results The HW, LVW, HW/BW were significantly decreased in the early and late treatment group than in CHF group(P<0.05,P<0.01). The LVW/BW was significantly decreased inearly treatment group than in CHF group, too (P<0.01). The LVEDP was significantly decreased in the early and late treatment group than in CHF group (P<0.01). The mRNA and protein of PPARγ significantly fell in CHF heart (P<0.01). The activity and protein expression of p65 were significantly increased in CHF heart (P<0.01). Simvastatin increased the mRNA and protein expression of PPARγ and decreased the activity and protein expression of p65 (P<0.01).Conclusions Simvastatin inhibits the cardiac hypertrophy and improves cardiac function. The mechanism of simvastatin on cardiac remodeling and function relates to the increase of PPARγ expression and preventing the NF-κB activation.

HEPATOPROTECTIVE ACTIVITY OF LOW MOLECULAR FUCOIDAN OLIGOSACCHARIDES FROM LAMINARIA JAPONICA IN MICE WITH LIVER INJURY / 营养学报

Objective: To study the antioxidative and hepatoprotective activities of low molecular fucoidan oligosaccharides(LMFO) from Laminaria japonica in mice.Methods: Mice were pretreated with LMFO(50?100?150 mg/kg ig respectively, 10 days),and then 0.2 % CCl 4 10 ml/kg ig and D-GalN(600 mg/kg)+LPS(lipopolysaccharide,1 ?g/kg) ig respectively in two model groups to induce liver injury. Liver injury was assessed by quantifying activities of plasma GPT, SOD, GSH-Px and MDA content.Results: The increase of plasma GPT activity was significantly inhibited by LMFO in two liver injury models, suggesting that LMFO had good protective effect on the hepatocytes. LMFO had good antioxidative effect in mice with liver injury induced by CCl 4 and D-GalN+LPS as indicated by decreased MDA content and increased activities of plasma SOD and GSH-Px. Conclusion: LMFO is protective against CCl 4-induced and D-GalN+ LPS induced liver injury in mice and its effect may be due to its antioxidative activities in vivo.