Objective To explore the relationship between the changes of Caspase 3mRNA expression and the injuried nervous cell apoptosis after rat focal cerebral ischemia/reperfusion injury who was then treated by mild hypothermia.Methods The middle cerebral arteries(MCA) of SD rats were occluded for 2 hours,and reperfused for 12 hours.Using FCM and semiquantitative RT-PCR technique,the DNA fragmentation rate and Caspase 3mRNA expression level were detected in the shamoperation group,the control group and the mild hypothermia group,respectively.Results The DNA fragmentaation rate and Caspase 3mRNA expression level in the sham operation group and the mild hypothermia group were obviously lower than those in the control group.Conclusions The significantly decreased level of Caspase-3mRNA expression may be related to the obviously decreased nervous cell apoptosis after rat cerebrall ischemia/reperfusion injury treated by the mild hypothemia.

Objective To explore the inhibition effect on angiogenesis and plaque growth of carotid atherosclerosis by transfection of endostatin gene using microbubbles combined with ultrasound exposure.Methods Twenty rabbit models of carotid atherosclerosis were randomly divided into 3 groups:group A,microbubble+ ultrasound; group B, control plasmid + microbubble + ultrsound; group C, ES plasmid +microbubble+ ultrasound. Two weeks after surgery, ultrasound/microbubble mediated gene transfer was performed,and it was performed once again three weeks after the first transfection. Ultrasonography and digital subtraction angiography(DSA) were performed at the time of 14 weeks. The carotid arteries were taken to detect the neointima and angiogenesis, and the expression of endostatin was detected using pathological means. Results The imagings of ultrasound showed that the intima in group A and B were thick significantly with larger plaques, and the lumen became stenosis with the peak systolic velocity increasing,however,in group C,the parameters mentioned above were significantly less than those of group A and B ( P＜0.05). Pathological results displayed that intima-media thickness (IMT), intima thickness (IT), intima thickness/media thickness (IT/MT), intima area (IA), intima area/media area (IA/MA) and neointimal stenosis rates were greater in group A and B, however, they were less in group C ( P＜0.05).The number of neovascularization and vascular endothelial growth factor(VEGF) expression in group A and B were more than those of group C. There was more endostatin positive expression in carotid arteries and anterior tibial muscles of group C, while there was nearly no expression in group A and B. Conclusions Under the conditioned ultrasonic irradiation, ultrasound/microbubble mediated endostatin gene transfection can inhibit the development of carotid atherosclerosis in rabbits, which might provide a safe and effective strategy for gene therapy of atherosclerotic disease in future.

Objective:To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease.Methods:A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children′s Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was selected as the study subject. Clinical data of his pedigree were collected, and peripheral venous blood samples were collected for the extraction of genomic DNA and subjected to trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing and analyzed with bioinformatic software. This study was approved by the Medical Ethics Committee of Hunan Children′s Hospital (No. KYSQ2022-263).Results:The child had manifested repeated fractures, bilateral bowed femur, osteoporosis, cataract, atrial septal defect, and developmental delay. Ultrasonography has revealed fetal edema, peritoneal effusion, pleural effusion and polyhydramnios. Trio-whole exome sequencing and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XYLT2 gene, namely c. 1103_1104delAG (p.Gln368Argfs*8) and c. 1238_1253delinsA (p.Val413_Pro418delinsGlu), which were inherited from his phenotypically normal father and mother, respectively. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and recommendations from the Clinical Genome Resource (ClinGen), the c. 1103_1104delAG was predicted as a pathogenic variant (PVS1+ PM2_Supporting+ PP4), whilst the c.1238_1253delinsA was predicted as a likely pathogenic variant (PM4+ PM3+ PM2_Supporting+ PP4). Conclusion:The c. 1103_1104delAG and c. 1238_1253delinsA compound heterozygous variants of the XYLT2 gene probably underlay the pathogenesis in this child. Above finding has enriched the phenotypic and mutational spectrum of SOS, and provided a basis for the clinical diagnosis, treatment, prognosis assessment and genetic counseling for this pedigree.

Grooming,as an evolutionarily conserved repetitive behavior,is common in various animals,including humans,and serves essential functions including,but not limited to,hygiene maintenance,thermoregulation,de-arousal,stress reduction,and social behaviors.In rodents,grooming involves a patterned and sequenced structure,known as the syntactic chain with four phases that comprise repeated stereotyped movements happening in a cephalocaudal progression style,beginning from the nose to the face,to the head,and finally ending with body licking.The context-dependent occurrence of grooming behavior indicates its adaptive significance.This review briefly summarizes the neural substrates responsible for rodent grooming behavior and explores its relevance in rodent models of neuropsychiatric disorders and neurodegenerative diseases with aberrant grooming phenotypes.We further emphasize the utility of rodent grooming as a reliable measure of repetitive behavior in neuropsychiatric models,holding promise for translational psychiatry.Herein,we mainly focus on rodent self-grooming.Allogrooming(grooming being applied on one animal by its conspecifics via licking or carefully nibbling)and heterogrooming(a form of grooming behavior directing towards another animal,which occurs in other contexts,such as maternal,sexual,aggressive,or social behaviors)are not covered due to space constraints.

A 13-year and 6-month-old girl attended the Hunan Children's Hospital due to delayed menarche. The laboratory test results indicated increased follicle-stimulating hormone and luteinizing hormone, decreased anti-Mullerian hormone, and pelvic ultrasound showed a cord-like uterus and absence of bilateral ovaries. Her 11-year and 5-month-old younger sister had the same laboratory and imaging findings, and both girls were diagnosed with primary ovarian insufficiency. Whole exome sequencing and Sanger sequencing confirmed that the proband and her sister carried heterozygous variants of HROB gene c.718C>T (p.Arg240*) and c.1351C>T (p.Arg451*), which were inherited from their parents respectively and consistent with autosomal recessive inheritance. Oral estradiol valerate at an initial dose of 0.125 mg/d was given to the proband, and the secondary sexual characteristics began to develop after 6 months.
Humans ; Female ; Child ; Infant ; Primary Ovarian Insufficiency/genetics* ; Luteinizing Hormone ; Estradiol