OBJECTIVE: To explore the phenotypic characteristics of paternal chromosomal simplex 3q microduplication syndrome. METHODS: Amniotic fluid samples of 3 fetuses from a same couple were subjected to prenatal diagnosis through combined high-resolution chromosomal G-banding karyotyping and chromosomal microarray analysis (CMA). Peripheral blood samples were also collected the couple for the determination of parental origin. RESULTS: The karyotypes of all three fetuses were 46,XN,dup(3)(q25q26.1), and their CMA results were arr[hg19]3q25.33q26.1(159 336 333-166 924 969)×3. The duplication in the three fetuses have all derived from their father. No anomaly with found with the mother by CMA . CONCLUSION Through combined G-banded chromosomal karyotyping and CMA assay, a paternally derived 3q25.33-q26.1 microduplication has been identified, which has enabled genetic counseling for this couple.
Female ; Pregnancy ; Humans ; Male ; Prenatal Diagnosis ; Genetic Testing ; Fetus ; Syndrome ; Mothers ; Fathers

Patients with Crohn's disease (CD) are often complicated with malnutrition and enteral nutrition is the preferred option for nutritional support. Enteral nutrition is the first-line therapy to induce remission of CD in children, but its application in adults has not been well established. In recent years, studies have found that enteral nutrition can not only improve the nutritional status in adult CD patients, but also induce and maintain CD remission through various mechanisms. Given its favorable nutritional efficacy and safety, enteral nutrition has been considered as the basic treatment for adult CD patients and often used in combination with other treatment approaches. However, any combination therapy should be assessed in terms of benefit and risk. This review aims to describe the efficacy and safety of enteral nutrition combined with other treatment approaches in adult CD patients and enumerate common applicable clinical settings, so as to better inform clinical treatment.

Anxiety and depression are common in patients with inflammatory bowel disease (IBD), especially in patients with complex and active disease. IBD promotes the occurrence of anxiety and depression, while anxiety and depression also affect the progression of IBD. However, the pathogenesis has not been fully clarified, which is related mainly to inflammation, immune activation and brain-gut axis. Clinically, psychological disorders could be screened and identified by quantifiable assessment tools. Appropriate psychotherapy and psychiatric drugs can reduce the level of anxiety and depression and improve the quality of life of patients. This article reviewed the anxiety and depression related to IBD and its intervention.

Objective: To investigate the mechanism of resveratrol promoting fibronectin type Ⅲ domain-containing 5 (FNDC5) degradation in skeletal muscle of male obese mice． Methods: Six-week-old male C57BL /6 mice were randomly divided into three groups : standard control diet ( SCD) ，high-fat diet ( HFD) and high-fat diet treated with resveratrol (HFD + RES) ．HFD + RES group was intervened with resveratrol via gavage ［400 mg / kg · d) ］ while fed HFD for 20 weeks．The body mass，serum TG，TC，LDL-C and HDL-C levels were detected．The pathological changes in skeletal muscle were detected by HE staining．The expression of FNDC5，SIRT1，SIRT2，LC3， p62，Beclin-1，ATG5，ATG7 was assessed by immunohistochemistry，RT-PCR and Western blot respectively. Results: The body mass ，serum TG ，TC and LDL-C levels increased significantly ，meanwhile HDL-C levels decreased in HFD group．Lipid deposition between skeletal muscle fibers were obvious in HFD group．The immuno- histochemistry results showed that protein expression levels of SIRT1，SIRT2 and LC3 obviously decreased，while the protein levels of FNDC5 and p62 obviously increased．The expression levels of FNDC5 significantly increased， while the gene expression levels of SIRT1，SIRT2，LC3，Atg7 and Beclin-1 obviously decreased．All these responses were attenuated by treatment with RES． Conclusion RES has obvious effects of lipid-lowering and promoting FNDC5 degradation in skeletal muscle tissues，which may be related with SIRT1 and SIRT2-induced autophagy， thus resulting in degradation of FNDC5 .

Objective: To investigate the oxidative stress injury of nano zinc oxide nanoparticles(ZnO NPs) on human myocardial cells (AC16) ，and to analyze the mechanism of ZnO NPs from the transcriptome level． Methods: Dynamic light scattering (DLS) was used to characterize and detect ZnO NPs．After AC16 cells were exposed to ZnO NPs at different doses and at different times，the cell survival rate was determined by CCK-8 method．AC16 cells were divided into control group，ZnO NPs (50，100，200 μmol /L) ，after 6 h treatment，the mitochondrial membrane potential (MMP) and reactive oxygen species (ROS) were measured．AC16 cells were divided into control group，50 μmol /L ZnO NPs group and 200 μmol /L ZnO NPs group．After 6 h exposure，total RNA was extracted by TRIzol for transcriptome analysis ，and the differentially expressed genes were enriched by gene body ( GO) ，Kyoto Encyclopedia of Genes and Genomes (KEGG) . Results : The results of DLS showed that the hydrodynamic diameter was ( 192. 2 ± 1. 63 ) nm and the Zeta potential was ( －23. 26 ± 1. 05 ) mV． CCK-8 results showed that the survival rate of AC16 cells decreased with the increase of dose and time of exposure to ZnO NPs. Fluorescence quantification showed that with the increase of ZnO NPs exposure dose，MMP significantly decreased at 100 μmol /L ZnO NPs(P＜0. 05) ，and ROS significantly increased at 50 μmol /L ZnO NPs(P＜0. 05) ．Using the multifunctional microplate reader，it was observed that MMP and ROS were statistically significant at 100 and 50 μmol /L ZnO NPs，respectively，showing a decrease in MMP and an increase in ROS．Transcriptome analysis showed that 1 071 genes were enriched in the 50 μmol /L ZnO NPs group compared with the control group，including 561 up-regulated genes and 510 down-regulated genes．Compared with the control group，7 164 genes were enriched in 200 μmol /L ZnO NPs group，including 4 098 up-regulated genes and 3 066 down-regulated genes．GO and KEGG analysis showed that the differential genes were mainly concentrated in ROS，antioxidant activity，mitochondrial cytochrome C release，apoptosis and other signaling pathways． Conclusion ZnO NPs can decrease the survival rate of AC16 cells and induce mitochondrial damage and oxidative stress，among which ROS-mediated oxi- dative stress and mitochondrial function changes are important toxic mechanisms of ZnO NPs induced AC16 cytotoxicity.