Objective:To explore the prenatal and postnatal features and genetic characteristics of patients with Lymphedema-Distichiasis syndrome (LDS) due to variants of FOXC2 gene. Methods:A retrospective analysis was carried out on the phenotypic information, fetal ultrasound image, and genetic testing of two Chinese pedigrees diagnosed at the Third Affiliated Hospital of Zhengzhou University. A literature review was also carried out by searching the China National Knowledge Infrastructure (CNKI), Wanfang Database, and PubMed databases dated from January 2010 to June 2024 using keywords "Lymphedema-Distichiasis syndrome" and " FOXC2". This study has been approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethic No.2021-046-01). Results:Neither family was found to harbor chromosomal aneuploidy or pathogenic CNVs larger than 100 kb. The fetuses from pedigree 1 and pedigree 2 were respectively found to be heterozygous for a c. 361C>T (p.R121C) variant and a c. 168C>A (p.Y56*) variant of the FOXC2 gene. Both variants were paternally derived. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variants were classified as pathogenic and likely pathogenic, respectively. Literature search has identified 20 articles, and combined with our cases, a total of 117 patients were identified. Among them, 13 had shown prenatal phenotypes, primarily with increased nuchal translucency (NT) (12/13), urinary abnormalities (5/12), and fetal edema (4/13). Postnatal phenotypes were observed in 110 cases, mainly as distichiasis (87/110) and lymphedema (73/110). Only 6 cases had both prenatal and postnatal phenotypes. A total of 32 genetic variants were identified. Conclusion:The primary prenatal manifestations of LDS include increased NT, fetal edema, pleural and abdominal effusion, and separation of renal collecting system. Postnatal phenotypes are primarily characterized by lymphedema, distichiasis, and spinal extradural arachnoid cysts. Discovery of the c. 168C>A variant has expanded the spectrum of FOXC2 gene mutations in China.

OBJECTIVE: To explore the prenatal and postnatal features and genetic characteristics of patients with Lymphedema-Distichiasis syndrome (LDS) due to variants of FOXC2 gene. METHODS: A retrospective analysis was carried out on the phenotypic information, fetal ultrasound image, and genetic testing of two Chinese pedigrees diagnosed at the Third Affiliated Hospital of Zhengzhou University. A literature review was also carried out by searching the China National Knowledge Infrastructure (CNKI), Wanfang Database, and PubMed databases dated from January 2010 to June 2024 using keywords "Lymphedema-Distichiasis syndrome " and "FOXC2 ". This study has been approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethic No. 2021-046-01). RESULTS: Neither family was found to harbor chromosomal aneuploidy or pathogenic CNVs larger than 100 kb. The fetuses from pedigree 1 and pedigree 2 were respectively found to be heterozygous for a c.361C>T (p.R121C) variant and a c.168C>A (p.Y56*) variant of the FOXC2 gene. Both variants were paternally derived. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variants were classified as pathogenic and likely pathogenic, respectively. Literature search has identified 20 articles, and combined with our cases, a total of 117 patients were identified. Among them, 13 had shown prenatal phenotypes, primarily with increased nuchal translucency (NT) (12/13), urinary abnormalities (5/12), and fetal edema (4/13). Postnatal phenotypes were observed in 110 cases, mainly as distichiasis (87/110) and lymphedema (73/110). Only 6 cases had both prenatal and postnatal phenotypes. A total of 32 genetic variants were identified. CONCLUSION The primary prenatal manifestations of LDS include increased NT, fetal edema, pleural and abdominal effusion, and separation of renal collecting system. Postnatal phenotypes are primarily characterized by lymphedema, distichiasis, and spinal extradural arachnoid cysts. Discovery of the c.168C>A variant has expanded the spectrum of FOXC2 gene mutations in China.
Adult ; Female ; Humans ; Male ; Pregnancy ; China ; East Asian People/genetics* ; Eyelashes/abnormalities* ; Forkhead Transcription Factors/genetics* ; Genetic Testing ; Lymphedema/genetics* ; Pedigree ; Phenotype ; Retrospective Studies

Objective:To explore the prenatal and postnatal features and genetic characteristics of patients with Lymphedema-Distichiasis syndrome (LDS) due to variants of FOXC2 gene. Methods:A retrospective analysis was carried out on the phenotypic information, fetal ultrasound image, and genetic testing of two Chinese pedigrees diagnosed at the Third Affiliated Hospital of Zhengzhou University. A literature review was also carried out by searching the China National Knowledge Infrastructure (CNKI), Wanfang Database, and PubMed databases dated from January 2010 to June 2024 using keywords "Lymphedema-Distichiasis syndrome" and " FOXC2". This study has been approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethic No.2021-046-01). Results:Neither family was found to harbor chromosomal aneuploidy or pathogenic CNVs larger than 100 kb. The fetuses from pedigree 1 and pedigree 2 were respectively found to be heterozygous for a c. 361C>T (p.R121C) variant and a c. 168C>A (p.Y56*) variant of the FOXC2 gene. Both variants were paternally derived. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variants were classified as pathogenic and likely pathogenic, respectively. Literature search has identified 20 articles, and combined with our cases, a total of 117 patients were identified. Among them, 13 had shown prenatal phenotypes, primarily with increased nuchal translucency (NT) (12/13), urinary abnormalities (5/12), and fetal edema (4/13). Postnatal phenotypes were observed in 110 cases, mainly as distichiasis (87/110) and lymphedema (73/110). Only 6 cases had both prenatal and postnatal phenotypes. A total of 32 genetic variants were identified. Conclusion:The primary prenatal manifestations of LDS include increased NT, fetal edema, pleural and abdominal effusion, and separation of renal collecting system. Postnatal phenotypes are primarily characterized by lymphedema, distichiasis, and spinal extradural arachnoid cysts. Discovery of the c. 168C>A variant has expanded the spectrum of FOXC2 gene mutations in China.

Background: Studies have shown that curcumin can regulate the expressions of a variety of miRNAs and affect tumor cell biological behavior. However, whether curcumin affects the biological behavior of gastric cancer cells by regulating expression of miR-539 has not been clarified. Aims: To investigate the effect and mechanism of curcumin on proliferation, migration, invasion, apoptosis of gastric cancer cells by regulating the expression of miR-539. Methods: A total of 49 gastric cancer tissue specimens were collected. Gastric cancer AGS, SGC7901 cells were divided into blank group, curcumin group, negative control group, miR-539 mimics group, miR-539 inhibitor group, inhibitor control group, miR-539 inhibitor +curcumin group. qRT-PCR was used to detect the mRNA expression of miR-539 in gastric cancer tissue and cells. Cell proliferation was detected by MTT. Scratch test, Transwell test were used to detected cell migration and invasion. Cell apoptosis was determined by flow cytometry. Western blotting was used to detect protein expressions of APOBEC3B, c-Myc, cyclin D1, claudin-1 and N-cadherin. Results: Expressions of miR-539 mRNA in gastric cancer tissue and gastric cancer cells were significantly decreased than those in corresponding controls (P<0.05), and was related to tumor stage in gastric cancer patients (P<0.05). Curcumin up-regulated the expression of miR-539 mRNA in a dose-dependent manner (P<0.05). Compared with corresponding control group, cell proliferation, migration and invasion were significantly decreased in miR-539 mimics group and curcumin group (P<0.05), cell apoptosis rate was significantly increased (P<0.05), and protein expressions of APOBEC3B, c-Myc, cyclin D1, claudin-1 and N-cadherin were significantly decreased (P<0.05). Conclusions: Expression of miR-539 is decreased in gastric cancer, and curcumin can inhibit proliferation, migration and invasion of gastric cancer cells and induce cell apoptosis by up-regulating the expression of miR-539.

Objective To explore the characteristics of alexithymia and interoception in patients with panic disorder(PD) and its relationship. Methods Thirty-seven patients with PD and 45 healthy con-trols who met the diagnostic criteria of DSM-Ⅳ were selected. Toronto Alexithymia Scale ( TAS) and state-trait anxiety inventory ( STAI) were used to assess the characteristics of alexithymia and anxiety symptoms respectively. The heartbeat perception levels were tested by the Mental Tracking Paradigm. Results The de-tection rate of alexithymia in patients with panic disorder was 37. 83% (14/37),but the rate in the normal control group was only 4. 44%(2/45),and the difference was statistically significant (χ2=14. 42,P<0. 05). The total score of TAS (55. 11±10. 99),factor Ⅰ (20. 62±6. 78) and factor Ⅱ (14. 68±3. 70) in the PD group were higher than those in the control group (42. 93± 9. 25,12. 82± 4. 99,11. 42±3. 04; F=20. 72, 31. 08,15. 31,P<0. 01). The levels of the heartbeat perception were higher in the PD group than that in the control group (0. 75±0. 15,0. 58±0. 19;t=4. 13,P<0. 05). In PD group,the score of STAI were positively correlated with TAS total score and factor Ⅰ and Ⅱ scores( r=0. 57,0. 61,0. 47;r=0. 54,0. 62,0. 39,P<0. 05). There was no significant correlation between the scores of STAI and the level of interoception. The mediating effect of interoception level on alexithymia and state anxiety was not significant while the mediating effect on alexithymia and trait anxiety was also not significant. Conclusions The alexithymia detection rate and interoception sensitivity in patients with panic disorder were higher than those of healthy people. There may be interaction between alexithymia and anxiety symptoms. Interoception may be a clinical feature of panic disorder.

miRNAs,as a class of endogenous small noncoding RNAs,have come to be a new treatment target for ischemic brain injury as many of them have been discovered to participate in multiple links of the injury.Autophagy,a catalysis process based on lysosomes,has become a current research hotspot because it has been found to participate in and regulate the pathological process of ischemic brain injury.As regulation of autophagy by miRNAs represents a new post-transcriptional regulatory mechanism,autophagy miRNAs after ischemic brain injury have attracted growing interest trom researchers worldwide.It is expected that the role of miRNAs in autophagy regulation can be clarified with the research progress and new therapeutic targets and directions can be found for the treatment of ischemic brain injury.This review gives a brief summary of the research progress conceming the role of miRNAs in regulating autophagy after ischemic brain injury,hoping the information may promote understanding of the important effects and potential therapeutic values of miRNAs-regulated autophagy in ischemic brain injury.

Objective To investigate the changes of cortical thickness and relative resting state functional connectivity in patients with generalized anxiety disorder (GAD).Methods The present study analyzed structural and eyes-open resting state functional MRI were performed in 21 patients with GAD and 22 matched healthy controls.Cortical thickness was estimated with FreeSurfer.The structurally altered regions were defined as region of interest (ROI) to analyze functional connectivity (FC) using resting state functional MRI data by DPABI.Results Cortical thickness of patients with GAD were increased in right rostral middle frontal gyrus (rMFG;MNI:x =27.9,y =53.4,z =-11.1;size:241.93 mm2;FDR corrected,P ＜ 0.1) and right inferior temporal gyrus (IGT;MNI:x =49.7,y =-57.8,z =-8.7;size:138.93 mm2;FDR corrected,P＜0.1) compared with healthy controls.FC between right rMFG and right superior/middle occipital gyrus as well as well as FC between rMFG and right precentral gyrus showed decreased in patients with GAD compared with healthy controls(AlphaSim corrected,P＜0.05).FC between right rMFG and right angular gyrus showed increased in patients with GAD compared with healthy control (AlphaSim corrected,P＜0.05).Conclusion The rMFG may play an important role in the pathophysiology of GAD,which can be used as an stimuli target in physicotherapeutics to improve anxiety symptoms.

Objective To investigate the relationship between adiponectin combined with the ultrasound blood flow index of the umbilical artery and perinatal outcome in women with severe preeclampsia. Methods Placental tissues were obtained from normal term pregnancies (control group, n=50) and severe preeclampsia patients (PE group, n=50) in Third Affiliated Hospital of Zhengzhou University from February 2014 to October 2014. The expression of adiponectin was examined using immunohistochemical methods and real-time polymerase chain reaction. The umbilical artery was measured by color Doppler, and the umbilical artery systolic/diastolic ratio (UA-S/D), umbilical artery resistance index (UA-RI) and umbilical artery pulsatility index (UA-PI) were determined. The relationship between the expression of adiponectin in placental tissues, UA-S/D and perinatal outcome were analyzed. The data were analyzed using two dependent-sample t test, the log-rank test and Spearman correlation analysis. Results Compared with the control group, infants in the PE group had lower birth weight and placental weight, shorter height, and greater umbilical artery indices including UA-S/D, UA-RI and UA-PI (all P<0.05). The expression of adiponectin and its mRNA in placentae of the PE group was significantly higher than that of the control group (adiponectin: 0.326±0.011 vs. 0.116±0.011, t=99.144, P=0.000;mRNA:4.18±1.80 vs. 1.00±0.51, t=11.985, P=0.000). UA-S/D had a negative correlation with birth weight, onset gestational age and gestational age at birth (r= - 0.897, - 0.469 and - 0.524, all P<0.01). The expression of adiponectin mRNA had a negative correlation with birth weight, onset gestational age, and gestational age at birth (r=-0.580,-0.407 and-0.449, all P<0.01). The expression level of adiponectin had positive correlations with body mass index of the mothers and the UA-S/D (r=0.261 and 0.788, both P<0.01). Conclusions The expression of adiponectin in placental tissues and blood flow index of the umbilical artery both increase in severe preeclampsia, and are associated with poor perinatal outcome.

Objective To explore the diagnostic value of 18F-FDG PET/CT delayed imaging after induced diuresis for primary bladder tumor.Methods Fourteen patients (12 males,2 females; age range 35-88 years) with pathologically confirmed primary bladder tumor (clinical stage T1.3N0M0) were retrospectively analyzed.All patients underwent standard 18F-FDG PET/CT followed by a delayed (2.5-3.0 h later)pelvic imaging post intravenous injection of 20 mg furosemide and oral intake of 600 ml water.A positivelesion was defined as the uptake of 18F-FDG greater than the urine radioactivity and negative as equaled to or less than the urine radioactivity.Diagnostic efficacy of 18F-FDG PET/CT was calculated with pathology as the gold standard.Mann-Whitney u test was used to analyze data.Results There were 12 malignant (11 urothelium carcinomas and 1 squamous cell carcinoma) and 2 benign tumors (papillary epitheliomas).On standard PET/CT imaging,3 of 12 malignant lesions showed increased metabolism of 18F-FDG and the other 9 were false negative; while the 2 benign tumors showed no abnormal 18F-FDG uptake.The sensitivity,specificity,and accuracy of 18F-FDG PET/CT were 3/12,2/2 and 5/14,respectively.Sizes of the 3 18F-FDG-avid malignant lesions were greater than those of other 9 18F-FDG-negative lesions (26,30,35 mm vs (15.6±6.3) mm; Z=-2.315,P＜0.05).The sensitivity,specificity,and accuracy of delayed pelvic imaging were 11/12,2/2,13/14,respectively.Conclusion 18F-FDG PET/CT delayed imaging after diuresis has a high diagnostic efficacy for primary bladder tumor.