AIM: To investigate the relationship between galectin-3 (Gal-3) and myocardial fibrosis, and to clarify the role of Gal-3 in ventricular remodeling in rabbits with ischemic cardiac insufficiency.METHODS: A rabbit model of ischemic cardiac insufficiency was established by ligation of the anterior descending branch of the coronary artery.The 20 rabbits were randomly divided into sham operation group and cardiac insufficiency group by random number table method.After 4 weeks of coronary artery ligation, the cardiac function was measured by cardiac echocardiogram.Real-time PCR and Western blot were used to detect the expression of Gal-3, type I collagen and type III collagen at mRNA and protein levels in the myocardium.The serum Gal-3 contents were measured by ELISA.HE staining and Masson staining were used to observe the degree of fibrosis development in myocardial tissues after infarction.RESULTS: Compared with sham operation group, the mRNA expression of Gal-3 in cardiac insufficiency group was significantly increased.At the same time, type I collagen, type III collagen and collagen type I/III ratio were also increased significantly.The protein contents of Gal-3, type I collagen and type III collagen were increased significantly.The serum Gal-3 levels were significantly increased.The pathological changes were observed in cardiac insufficiency group as the myocardial cell morphological disorder and marked hyperplasia of fibrous tissue were seen.CONCLUSION: Gal-3 aggravates myocardial fibrosis in rabbits with ischemic cardiac insufficiency, and promotes the ventricular remodeling and the occurrence of heart failure.

The clinical data of a child with paroxysmal kinesigenic dyskinesia (PKD) and being diagnosed and treated in the Department of Pediatrics of the First Affiliated Hospital of Zhengzhou University in October 2018 were analyzed retrospectively.The male patient was 13 years old.The clinical manifestation was the change of body position, and the temporary movement cannot appear.The manifestations included the turning of head to one side, the falling back of neck, head shaking, swinging, the tightly hugging of hands in front of the chest, the touching of two tiptoes to the ground, numb sole, and ache.Gene detection: chromosome 16p11.2 (chr16: 29594293-30189789) had about 595.5 kb heterozygosity deletion.A total of 8 cases of 16p11.2 microdeletion in children with PKD were reported in details.16p11.2 microdeletion is another form of gene expression that causes PKD.16p11.2 microdeletion should be screened for genetic evaluation in patients with PKD.

With the recent development in diagnostic tools and bio-information, significant progress has been made in clinical understanding of the etiology of neonatal encephalopathy, however, which continues to be a challenge in clinical management. Therefore, we summarize the concept and causes of neonatal encephalopathy and explore how to provide individualized, precise treatment and prognostic assessment for children with neonatal encephalopathy from the following aspects: the standardization and systematization of perinatal history, diagnosis and treatment strategy informed by the bio-information tools, neuro-neonatal intensive care with multi-modal monitoring, and long-term follow-up with family-centered care.

Objective To investigate the association between Gal-3 and the effect of perindopril on ventricular remodeling in ischemic heart failure rabbit.Methods A rabbit model of ischemic heart failure was made by ligationof the anterior descending branch of the coronary artery.Thirty rabbits were divided into sham operation group,heart failure group and perindopril group.Determination of cardiac function by echocardiography after 4 weeks of treatment respectively;mRNA expression and protein content of Gal-3 were detected by Real-time PCR or Western-blob.Serum Gal-3 level was determinated by ELISA.Results Compared with sham operation group,mRNA expression and protein content of Gal-3,type Ⅰ collagen and type Ⅲ collagen increased and the serum level of Gal-3 increased in heart failure group(P＜0.05);compared with heart failure group,mRNA expression and protein content of Gal-3,type Ⅰ collagen and type Ⅲ collagen decreased and the serum level of Gal-3 was reduced in perindopril group(P＜ 0.05).Gal-3 was negativelycorrelated with heart function(r=-0.925,P＜0.05).Conclusion Effect of perindopril inhibiting myocardial fibrosis,slowing the ventricular remodeling and improving heart function associated with level of Gal-3.

OBJECTIVE: To detect potential mutation in a Chinese pedigree affected with split hand/split foot malformation (SHFM). METHODS: The patients were screened for genome-wide copy number variations with single nucleotide polymorphism (SNP) microarray. Copy number variations were verified by real-time fluorescence quantitative PCR. RESULTS: There were 3 SHFM patients from three generations, which conformed to an autosomal dominant inheritance. SNP microarray assay revealed that all patients have carried a 0.34 Mb duplication in 10q24.31-q24.32 (102 993 649-103 333 271) encompassing the BTRC and DPCD genes. The result was verified by real-time fluorescence quantitative PCR, confirming that the duplication has co-segregated with the SHFM phenotype in the pedigree. CONCLUSION The 10q24.31-q24.32 duplication probably underlies the pathogenesis of SHFM in this pedigree. Tiny copy number variations can result in diseases featuring autosomal dominant inheritance.
Asian Continental Ancestry Group ; China ; Chromosome Duplication ; Chromosomes, Human, Pair 10 ; genetics ; DNA Copy Number Variations ; Foot Deformities, Congenital ; genetics ; Hand Deformities, Congenital ; genetics ; Humans ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide

Objective: To investigate the prevalence of witnessing domestic violence,and to explore the relationship between witness domestic violence in childhood and college students’ injury and violence behaviors. Methods: In October 2018, self-made questionnaire on “Health and Risky Behaviors among University Students in Anhui Province” was conducted among 4 034 college students from 4 universities in Hefei. Multivariate Logistic regression models (control of confounding factors) were used to explore the impact of childhood witnessing domestic violence on college students’ injury and violence. Results: Among 4 034 college students,the prevalence of witnessing domestic emotional violence,mild physical violence and severe physical violence in childhood was 27.6%,22.4%,10.7%,respectively. Univariate analysis showed that students with experiences of witness domestic emotional violence,mild physical violence and severe physical violence had higher rates of self-injury,physical,emotional,and sexual violence compared to those without domestic violence witness(P<0.05). Multivariate Logistic regression analysis showed that witnessing domestic severe physical violence,emotional violence in childhood associated positively with self-harm (OR=1.53,95%CI=1.05-2.23; OR=2.15,95%CI=1.51-3.04) and emotional violence (OR=1.65,95%CI=1.16-2.35; OR=2.57,95%CI=1.87-3.53). Witnessing domestic severe physical violence showed positive association with physical violence (OR=4.99,95%CI=2.58-9.62) and sexual violence (OR=8.68,95%CI=3.30-22.81) among college students (P<0.05). Conclusion The experiences of witness domestic violence can increases the risk of college student’s injury and violence behaviors,especially witness domestic severe physical violence.

OBJECTIVE: To carry out genetic and metabolite analysis for an infant with cerebral creatine deficiency syndrome type 2 (CCDS2). METHODS: Clinical data of the child was collected. Whole-exome sequencing was carried out to identify potential variants by next generation sequencing. Candidate variants were confirmed by Sanger sequencing. Metabolites were determined by tandem mass spectrometry and magnetic resonance spectroscopy. Treatment was carried out following the diagnosis and genetic counseling for the affected family. RESULTS: Two novel heterozygous variants (c.289delC and c.392-1G>C) of the GAMT gene were identified in the proband, which were respectively inherited from her father and mother. In silico analysis suggested both variants to be pathogenic. Creatine (Cr) level of the child was very low, and cerebral guanidinoacetate (GAA) level was slightly increased. But both had recovered to normal in two weeks, and cerebral Cr level was significantly improved after two months. Intellectual and motor development of the child were significantly improved. CONCLUSION The child was diagnosed with CCDS type 2, for which pathogenic variants of the GAMT gene may be accountable. Treatment has attained a satisfactory effect for the patient.

Objective: To explore the relationship between childhood abuse, adult attachment and borderline personality disorder (BPD) in college students, and to provide reference for promoting the physical and mental health of college students. Methods: We selected undergraduate students from four colleges in Hefei, a total of 4 034 college students were surveyed by the childhood trauma questionnaire short form(CTQ-SF), the state adult attachment measure (SAAM) and the Personality Diagnostic Questionnaire(PDQ). Results: BPD was found in 4.2% of subjects, 4.5% of males and 3.7% of females. The score of BPD in non-single-parent families was lower than that in single-parent families, in families with average family economic status was lower than that in families with poor and good family economic status, and in families with medium father education level was lower than that in fathers with low and high education level(Z=-2.30, 29.25, 9.63, P<0.05). Childhood abuse, avoidant attachment and anxious attachment positively predicted BPD(β=0.21, 0.10, 0.23, P<0.01), secure attachment negatively predicted BPD(β=-0.15, P<0.01). Adult attachment played a partial mediating role in the effects of childhood abuse on BPD, with the mediating effect accounting for 16.7% of the total effect. Conclusion Adult attachment plays a mediating role in the effects of childhood abuse on BPD.

Infant, Newborn ; Infant ; Female ; Humans ; Infant, Extremely Premature ; Uterus ; Gestational Age

Objective:To study the past 10 years' experiences of neonatal hydrocephalus in a single-center.Methods:From January 2010 to December 2019, clinical data of infants with hydrocephalus admitted to Neonatology Department of our hospital were retrospectively analyzed. The infants were assigned into different groups according to gestational age, different etiologies and treatments. Their clinical characteristics and outcomes were compared.Results:A total of 223 infants with hydrocephalus were included. 136 (61.0%) infants were in the preterm group and 87 (39.0%) in the full-term group. The incidence of post-intracranial hemorrhage (ICH) hydrocephalus in preterm infants was significantly higher than full-term infants ( P<0.001). According to the etiologies, 58 infants (26.0%) had congenital hydrocephalus (congenital group), 82 cases (36.8%) developed post-ICH hydrocephalus (ICH group), 48 cases (21.5%) had post-CNS-infection hydrocephalus (infection group) and 35 cases (15.7%) had post-ICH+CNS-infection hydrocephalus (ICH+infection group). The incidences of perinatal asphyxia, neonatal resuscitation and endotracheal intubation within 3 d after birth in the ICH group were significantly higher than the other groups ( P<0.05). Among the four groups, the infection group had the highest incidence of neonatal sepsis, the congenital group had the highest incidence of patent ductus arteriosus and the ICH group had the highest incidence of respiratory diseases (all P<0.05).137 cases (61.4%) received non-surgical therapy, 48 cases (21.5%) had temporary drainage, 37 cases (16.6%) with permanent shunt and 1 case (0.4%) intracranial hematoma removal. The congenital group and ICH group with permanent shunt showed significantly higher rate of improvement than temporary drainage group and non-surgical group ( P<0.001). Conclusions:The main etiologies of neonatal hydrocephalus are ICH and CNS infection. The incidence of post-ICH hydrocephalus in premature infants was quite high. Hydrocephalus of different etiologies have different comorbidities. Maternal and infant care during pregnancy and delivery, prevention of neonatal sepsis and ICH are crucial in the prevention of hydrocephalus. More studies are needed for better treatment.