Objective:To screen for the mutation types of the FOXL2 in 4 families with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlations.Methods:To retrospectively analyze the result of FOXL2 gene detection by fluorescence quantification PCR, Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) in probands and families of BPES from January 2018 to January 2021, obtain mutation sites of pathogenic genes.Results:4 BPES families (8 cases) including 4 males and 4 females, with age ranged form 4 to 52 years (mean 24). The proband of family 1 has fragment deletion of Chr3∶138, 944, 224-138, 947, 137 region of FOXL2 gene. Proband of family 2 has heterozygosity deletion upstream of the 5’end of FOXL2 gene. There are missense mutations of c. 241 T>C(p.Y81 H)in proband and affected mother of family 3. There are c. 672_701dup(p.A224_A234dup) in-frame duplication mutations in proband and affected mother of family 4.Conclusions:Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The fragment deletion of Chr3∶138, 944, 224-138, 947, 137 region of FOXL2 gene and heterozygosity deletion upstream of the 5’end of FOXL2 gene are all new mutations that have not been reported. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.

Objective:To screen for the mutation types of the FOXL2 in 4 families with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlations.Methods:To retrospectively analyze the result of FOXL2 gene detection by fluorescence quantification PCR, Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) in probands and families of BPES from January 2018 to January 2021, obtain mutation sites of pathogenic genes.Results:4 BPES families (8 cases) including 4 males and 4 females, with age ranged form 4 to 52 years (mean 24). The proband of family 1 has fragment deletion of Chr3∶138, 944, 224-138, 947, 137 region of FOXL2 gene. Proband of family 2 has heterozygosity deletion upstream of the 5’end of FOXL2 gene. There are missense mutations of c. 241 T>C(p.Y81 H)in proband and affected mother of family 3. There are c. 672_701dup(p.A224_A234dup) in-frame duplication mutations in proband and affected mother of family 4.Conclusions:Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The fragment deletion of Chr3∶138, 944, 224-138, 947, 137 region of FOXL2 gene and heterozygosity deletion upstream of the 5’end of FOXL2 gene are all new mutations that have not been reported. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.

The intestinal permeability is crucial for human health,and the changes of intestinal permeability may cause variety of diseases,which is widely concerned.This article reviews the latest research progress in the relationship between intestinal permeability and diseases,the main influencing factors of intestinal permeability and its common testing methods,which may provide new ideas for the clinical treatment of related diseases.

Objective To explore self-care abilities and current status of fatigue and loneliness in peritoneal dialysis patients, and to determine the correlation between their self-care and fatigue & loneliness. Methods Totals of 237 cases with peritoneal dialysis followed up by Nephrology Department in the First Affiliated Hospital of Zhengzhou University were selected and surveyed by General patient information questionnaire, Exercise of Self-Care Agency Scale ( ESCA) , Multidimensional Fatigue Inventory-20 ( MFI-20) , and UCLA Loneliness Scale ( Chinese version ) . Results Scores of self-care ability in peritoneal dialysis patients were ( 92. 18 ± 15. 23) points, in the level above the average. Scores of fatigue in peritoneal dialysis patients were (61.24±11.72) points, and of loneliness (46.28±5.34), both higher than norm (P<0.01). Self-care ability of peritoneal dialysis patients showed a negative correlation with level of fatigue and loneliness ( P<0. 01) . It was revealed in multiple stepwise regression analysis that influencing factors of self-care abilities in peritoneal dialysis patients included comprehensive fatigue, less activity, physical fatigue and loneliness. Conclusions When making nursing measures for peritoneal dialysis patients, their fatigue and loneliness should be assessed. Targeting measures should be intervened to eliminate their fatigue and loneliness, so as to improve their self-care ability and quality of life.

BACKGROUNDHemoptysis is a significant clinical entity with high morbidity and potential mortality. Both medical management (in terms of resuscitation and bronchoscopic interventions) and surgery have severe limitations in these patients population. Bronchial artery embolization (BAE) represents the first-line treatment for hemoptysis. This article discusses clinical analysis, embolization approach, outcomes and complications of BAE for the treatment of hemoptysis.

METHODSA retrospective analysis of 344 cases, who underwent bronchial arteriography at Tianjin Haihe Hospital between 2006 and 2013. Several aspects of outcome were analyzed: Demographics, clinical presentation, radiographic studies, results, complications and follow-up of BAE.

RESULTSThree hundred and forty-four consecutive patients underwent bronchial arteriography, 336 of 344 patients (97.7%) performed BAE; there were 1530 coils for 920 arteries embolized; the main responsible sources for bleeding were right bronchial artery (29.7%), left bronchial artery (21.6%), combined right and left bronchial trunk (18.4%), right intercostal arteries (13.3%); 61 patients (17.7%) had recurrent hemoptysis within 1 month after undergoing BAE, 74 patients (21.5%) had recurrent hemoptysis over 1 month after undergoing BAE; The common complications of BAE included subintimal dissection, arterial perforation by a guide wire, fever, chest pain, dyspnea, etc. The follow-up was completed in 248 patients, 28 patients had been dead, 21 patients still bleed, 92 patients had lost to follow-up.

CONCLUSIONSThe technique of BAE is a relatively safe and effective method for controlling hemoptysis . The complications of BAE are rare. Although the long-term outcome in some patients is not good, BAE may be the only life-saving treatment option in patients who are poor surgical candidates.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bronchial Arteries ; Embolization, Therapeutic ; methods ; Female ; Hemoptysis ; therapy ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

Objective to investigate the correlation between glutathione S- transferase gene M1,t1 and P1(GStM1,GStt1 and GStP1)poly-morphism and sperm DNA fragmentation index(DFI)in male patients with idiopathic infertile. Methods the study included 246 male patients with idiopathic infertility. Polymerase chain reaction(PCR)and polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) were used to identify the genotype of GStM1,GStt1 and GStP1,respectively. Sperm DFI was analyzed by flow cytometry with acridine orange staining. Results the sperm DFI was significantly higher in GStt1 gene null type group than in GStt1 gene wild type group(P < 0.01);and there were no significant differences in GStM1 and GStP1 gene mutation type groups when comparing with the wild type group(P > 0.05). Conclusion GStt1 gene deletion was positive associated with the sperm DFI in male idiopathic infertile patients.

Objective To establish a rabbit model of facial skin lifting and to evaluate the skin lifting effects of absorbable soft tissue plastic belt, and to provide experimental basis for clinical application of this plastic belt.Methods 36 Japanese white rabbits were randomly divided into model control group (n=6) and plastic belt lifting group (n=30). The model control group received only facial skin resection surgery, while the plastic belt lifting group had facial skin resection and plastic belt implantation.The changes of rabbit general status, skin lifting effects, performance of plastic belt and pathological changes of subcutaneous tissue after implantation were determined during the 4 weeks after surgery. Results The rabbit skin wound was healed within 3-7 days after surgery without infection.Meanwhile, the plastic belts did not show shifting or rupture, and only whitening around the perforations was observed in the two groups.Compared with the model control group, the MA and MB distances in the plastic belt lifting group were significantly lower ( P<0.01 ) , while the biological tension of plastic belts in the facial skin lifting rabbit models was significantly increased with the extension of time after implantation (P<0.01), and the biological tension was 18.62 N at 4 weeks after transplantation. In addition, the tensile intensities of perforations and plate in the two groups were significantly reduced at 4 weeks postoperatively (P<0.01), the tensile intensity of perforations and plate in the two groups were maintained at 35.07 N and 53.31 N, respectively, and the perforations/plate tensile intensity ratio of the two groups remained unchanged during 4 weeks after transplantation ( P >0.05 ) .Moreover, the molecular weight ( Mw ) , peak molecular weight ( Mp ) , Z molecular weight (Mz) and viscosity were gradually decreased along with the time passing after implantation (P<0.01), and its dispersion Mz/Mw ratio was also gradually decreased from 2 weeks after implantation (P<0.01), and no obvious pathological changes were found after subcutaneous implantation of the plastic belts.Conclusions We have successfully established a facial skin lifting rabbit model, and the plastic belt can obviously lift the facial skin fascia system and keep intact more than 4 weeks in the body.Therefore, this plastic belt can be applied for anti-wrinkle facial soft tissue lifting against the skin damage caused by aging.

This study aims to investigate the effect of total flavones of Fructus Chorspondiatis (TFFC) on the mRNA and protein expression of collagen type I and III of rat cardiac fibroblasts (CFs) induced by angiotensin II (Ang II), and explore its anti-myocardial fibrosis molecular mechanism. Neonatal rat CFs were prepared from Sprague-Dawley rats (1-3 d after birth). The expression of collagen type I and III mRNA and protein were measured by RT-PCR and Western blotting, respectively. The study showed that stimulation of neonatal rat CFs with 100 nmol.L-1 of Ang II for 72 h resulted in a significant increase of the expression of collagen type I and III mRNA and protein. The changes on the expression level were blocked by TFFC. The results demonstrated that TFFC can inhibit myocardial fibrosis induced by Ang II in rats, which is probably associated with the collagen type I and III mRNA and protein levels up-regulated by Ang II, and TFFC was shown to decrease the expression levels of collagen type I and III mRNA and protein.

Objective To investigate the effect of β-asarone on hippocampal neurons of experimental depression rats. Methods Eighty male adult SD rats were randomly divided into 4 groups, namely normal group, model group, fluoxetine(1.2 mg/kg) group and β-asarone (25 mg/kg) group. Depression rat model was established. The medication groups were given corresponding agents respectively. After treatment for 21 days, the number of apoptotic cells and the histological features in the hippocampus of rats were detected by flow cytometry and TUNEL, respectively. Results Compared with the normal group, typical apoptotic cells were found, apoptotic cell count and apoptotic rate were increased in the hippocampal CA3 and DG area of the model group (P<0.01). Compared with the model group, apoptotic cell count and apoptotic rate were decreased in the hippocampal area ofβ-asarone group and fluoxetine group (P<0.01). Conclusion The protective mechanism of β-asarone for the hippocampal cells of depression rats is probably associated with the reduction of the apoptosis of hippocampal neurons.