Objective:To explore the genetic basis and pathogenesis for a child with type Ⅰ Hereditary hemorrhagic telangiectasia (HHTⅠ) and Splenic sinus shore cell hemangioma (LCA).Methods:A child with HHT complicated with LCA diagnosed at the First Affiliated Hospital of Dali University in April 2022 was selected as the study subject. Clinical data of the child and her relatives were collected, and pathogenic variants were screened by whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.Results:The patient, a 16-year-old female, had recurrent epitaxis since childhood, which sometimes necessitated hemostasis treatment. She also had splenectomy due to splenic rupture and was diagnosed with LCA. Her father and grandmother also had a history of recurrent epitaxis. Her father had deceased due to cerebral vascular rupture. The child was found to harbor a c. 360+ 1G>A variant in the ENG gene. The same variant was not found in her asymptomatic mother and brother. Conclusion:The c.360+ 1G>A variant of the ENG gene probably underlay the pathogenesis in this child.

BACKGROUND:Oxidative injury is considered to be one of the important factors of cerebral ischemia-reperfusion injury.Superoxide dismutase 2(SOD2)is a key mitochondrial antioxidant molecule,and fenofibrate can regulate the expression of SOD2 by activating peroxisome proliferator-activated receptor α. OBJECTIVE:To explore whether the mechanism of fenofibrate in the treatment of cerebral ischemia-reperfusion injury depends on the expression of SOD2. METHODS:The TALENs system was used to construct SOD2 transgenic mice.The transgenic mice were genotyped by PCR and DNA sequencing techniques.The expression of SOD2 protein in transgenic mice was detected by western blot assay.Wild-type and SOD2 transgenic mice were randomly divided into four groups:wild-type control group(n=6),wild-type fenofibrate group(n=6),SOD2 transgenic control group(n=5)and SOD2 transgenic fenofibrate group(n=5).A mouse model of middle cerebral artery occlusion was prepared using the suture-occlusion method.After 90 minutes of ischemia,the thread was removed to reperfuse cerebral blood flow for 30 minutes.A cerebral blood flow monitor was used to monitor local cerebral blood flow.Brain tissue slices were taken for 2,3,5-triphenyltetrazolium chloride staining to analyze the situation of cerebral infarction in each group. RESULTS AND CONCLUSION:After PCR and DNA sequencing analysis,nine SOD2+/+ transgenic mice were successfully constructed.After cerebral ischemia-reperfusion,the wild-type fenofibrate group showed partial recovery of cerebral blood flow and significantly reduced cerebral infarction volume compared with the wild-type control group(P<0.001).There was no significant difference in cerebral blood flow and cerebral infarction volume between the SOD2 transgenic fenofibrate group and the SOD2 transgenic control group.The SOD2 transgenic control was superior to the wild-type control group in terms of improving cerebral blood flow and cerebral infarction(P<0.001).There were also no significant differences in cerebral blood flow and cerebral infarction volume between the wild-type fenofibrate group and the SOD2 transgenic control group and between the wild-type fenofibrate group and the SOD2 transgenic fenofibrate group.To conclude,the expression of SOD2 is one of the mechanisms of fenofibrate in the treatment of cerebral ischemia-reperfusion injury.

Objective:To explore the genetic characteristics of a family with intellectual impairment and developmental delay caused by HERC2 gene mutation. Methods:A total of 10 individuals from a 3-generation family of a child with intellectual disability and developmental delay who was treated at the First Affiliated Hospital of Dali University from May to July 2020 were recruited. Clinical data of probands from the family and the illness status of family members were collected. Whole exome sequencing technology was used to screen for pathogenic genes in probands, meanwhile, Sanger sequencing was conducted to verify the family of suspected pathogenic genes. According to the American College of Medical Genetics and Genomics (ACMG) genetic variation interpretation standards and guidelines, pathogenicity classification of suspected pathogenic gene mutation sites was performed.Results:The patient, male, 12-year old, presented with the clinical characteristics of "developmental delay for 9 years and intellectual disability for 3 months". The patient was characterized by a short stature, spontaneous laughter and avoidance of the surrounding environment. One younger brother has symptoms similar to intellectual impairment with developmental delay, while the remaining family members are normal. The Wechsler Intelligence Test of the child indicates a low level of intelligence. The whole exome sequencing results showed that the proband carried a homozygous mutation at the c.7675A>G site of the HERC2 gene, while Sanger sequencing showed that the younger brother carried the same homozygous mutation at the c.7675A>G site of the HERC2 gene. The other family members carried the same heterozygous mutation at the c.7675A>G site of the HERC2 gene. According to the ACMG guidelines, the mutation at this gene site is clinically unclear. Conclusion:The mutation at the c.7675A>G locus of HERC2 gene is the genetic basis of mental retardation with stunting in this family.

Objective:To explore the genetic characteristics of a family with intellectual impairment and developmental delay caused by HERC2 gene mutation. Methods:A total of 10 individuals from a 3-generation family of a child with intellectual disability and developmental delay who was treated at the First Affiliated Hospital of Dali University from May to July 2020 were recruited. Clinical data of probands from the family and the illness status of family members were collected. Whole exome sequencing technology was used to screen for pathogenic genes in probands, meanwhile, Sanger sequencing was conducted to verify the family of suspected pathogenic genes. According to the American College of Medical Genetics and Genomics (ACMG) genetic variation interpretation standards and guidelines, pathogenicity classification of suspected pathogenic gene mutation sites was performed.Results:The patient, male, 12-year old, presented with the clinical characteristics of "developmental delay for 9 years and intellectual disability for 3 months". The patient was characterized by a short stature, spontaneous laughter and avoidance of the surrounding environment. One younger brother has symptoms similar to intellectual impairment with developmental delay, while the remaining family members are normal. The Wechsler Intelligence Test of the child indicates a low level of intelligence. The whole exome sequencing results showed that the proband carried a homozygous mutation at the c.7675A>G site of the HERC2 gene, while Sanger sequencing showed that the younger brother carried the same homozygous mutation at the c.7675A>G site of the HERC2 gene. The other family members carried the same heterozygous mutation at the c.7675A>G site of the HERC2 gene. According to the ACMG guidelines, the mutation at this gene site is clinically unclear. Conclusion:The mutation at the c.7675A>G locus of HERC2 gene is the genetic basis of mental retardation with stunting in this family.

Prostate cancer is one of the most common malignant tumors in the world.Without typical early manifestations in the early stage, it is often too late when found. Therefore, early diagnosis, treatment, and prognosis are critical to improving the survival rate of patients with prostate cancer. Over the past few years, artificial intelligence(AI) has developed rapidly in the field of prostate cancer. In terms of diagnosis, AI is used as a tool to screen the images to reduce the error caused by the professionalism and subjectivity of the technician and to improve the repeatability of the results; In the prediction of prognosis, the algorithm calculates and evaluates disease-related parameters such as recurrence rate, lymph node metastasis rate and mortality rate, so as to assistant clinicians in decision-making and treatment improvements. This reviews aims to introduce the application of artificial intelligence in the diagnosis, treatment and prognosis of prostate cancer in recent years, as well as the prospect and challenges faced by artificial intelligence in the medical field.

OBJECTIVE: To explore the genetic basis of a Chinese pedigree affected with chronic kidney disease (CKD). METHODS: A Chinese pedigree comprised of 10 individuals from four generation who had visited the First Affiliated Hospital of Dali University from August 15, 2018 to July 5, 2021 was selected as the study subject. Clinical data of the proband were collected, and a pedigree survey was conducted. The proband was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The proband, a 41-year-old female, has been diagnosed with chronic nephritis for more than 4 years. Routine urinary examination showed proteinuria and blood creatinine of 1 130 μmol/L. Renal biopsy has revealed hyperplastic glomerulonephritis, moderate tubulointerstitial disease and renal arteriosclerosis. Her elder sister, younger brother, younger sister and mother were all diagnosed with CKD stage 5. Except for her elder sister, all of them had deceased, whilst no abnormality was found in the remainders. Genetic testing revealed that the proband and four family members had harbored a c.467G>A missense variant of the PAX2 gene. The variant has been associated with focal segmental glomerulosclerosis and classified as likely pathogenic (PS1+PP3+PP4) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The c.167G＞A variant of the PAX2 gene probably underlay the CKD in this Chinese pedigree.
Adult ; Female ; Humans ; Male ; East Asian People ; Genetic Testing ; Mutation ; PAX2 Transcription Factor/genetics* ; Pedigree ; Renal Insufficiency, Chronic/genetics*