Objective: : Baculovirus inhibitory of apoptosis repeat-containing 5 (BIRC5) is critically implicated in various types of tumors. However, the specific mechanisms by which it operates in glioma are yet to be fully understood. Methods: : The data sourced from The Cancer Genome Atlas and Gene Expression Omnibus were merged and analyzed using the R software to investigate the relationship between BIRC5 expression and prognosis and diagnosis outcomes. This exploration was conducted utilizing various biological information repositories. The correlation between BIRC5 and immunity was obtained based on TIMER and TISIDB databases. Results: : Gliomas displayed a markedly elevated level of BIRC5 expression compared to adjacent tissues. Patients with glioma who exhibit elevated levels of BIRC5 experience poorer prognoses and shorter survival times. Subgroup classification further revealed that heightened expression of BIRC5 led to diminished overall survival. Analysis of logistic regression and COX indicated that expression of BIRC5 serves as a risk factor in glioma development. Functional enrichment pathways showed that the 72 hub genes related to BIRC5 were mainly closely related to nuclear division, spindle, tubulin binding, and cell cycle in glioma patients. BBIRC5 methylation suggested that BIRC5 might influence the immune response regulation and the tumor microenvironment within gliomas. BIRC5 is associated with many chemicals. Additionally, studies conducted using cell experiments and pathological sections have consistently shown that BIRC5 expression is higher in tumor cells compared to normal cells and tissues. Conclusion : BIRC5 holds promise as a valuable tool in the diagnosis, prognosis, and management of gliomas.

Objective: : Baculovirus inhibitory of apoptosis repeat-containing 5 (BIRC5) is critically implicated in various types of tumors. However, the specific mechanisms by which it operates in glioma are yet to be fully understood. Methods: : The data sourced from The Cancer Genome Atlas and Gene Expression Omnibus were merged and analyzed using the R software to investigate the relationship between BIRC5 expression and prognosis and diagnosis outcomes. This exploration was conducted utilizing various biological information repositories. The correlation between BIRC5 and immunity was obtained based on TIMER and TISIDB databases. Results: : Gliomas displayed a markedly elevated level of BIRC5 expression compared to adjacent tissues. Patients with glioma who exhibit elevated levels of BIRC5 experience poorer prognoses and shorter survival times. Subgroup classification further revealed that heightened expression of BIRC5 led to diminished overall survival. Analysis of logistic regression and COX indicated that expression of BIRC5 serves as a risk factor in glioma development. Functional enrichment pathways showed that the 72 hub genes related to BIRC5 were mainly closely related to nuclear division, spindle, tubulin binding, and cell cycle in glioma patients. BBIRC5 methylation suggested that BIRC5 might influence the immune response regulation and the tumor microenvironment within gliomas. BIRC5 is associated with many chemicals. Additionally, studies conducted using cell experiments and pathological sections have consistently shown that BIRC5 expression is higher in tumor cells compared to normal cells and tissues. Conclusion : BIRC5 holds promise as a valuable tool in the diagnosis, prognosis, and management of gliomas.

Objective: : Baculovirus inhibitory of apoptosis repeat-containing 5 (BIRC5) is critically implicated in various types of tumors. However, the specific mechanisms by which it operates in glioma are yet to be fully understood. Methods: : The data sourced from The Cancer Genome Atlas and Gene Expression Omnibus were merged and analyzed using the R software to investigate the relationship between BIRC5 expression and prognosis and diagnosis outcomes. This exploration was conducted utilizing various biological information repositories. The correlation between BIRC5 and immunity was obtained based on TIMER and TISIDB databases. Results: : Gliomas displayed a markedly elevated level of BIRC5 expression compared to adjacent tissues. Patients with glioma who exhibit elevated levels of BIRC5 experience poorer prognoses and shorter survival times. Subgroup classification further revealed that heightened expression of BIRC5 led to diminished overall survival. Analysis of logistic regression and COX indicated that expression of BIRC5 serves as a risk factor in glioma development. Functional enrichment pathways showed that the 72 hub genes related to BIRC5 were mainly closely related to nuclear division, spindle, tubulin binding, and cell cycle in glioma patients. BBIRC5 methylation suggested that BIRC5 might influence the immune response regulation and the tumor microenvironment within gliomas. BIRC5 is associated with many chemicals. Additionally, studies conducted using cell experiments and pathological sections have consistently shown that BIRC5 expression is higher in tumor cells compared to normal cells and tissues. Conclusion : BIRC5 holds promise as a valuable tool in the diagnosis, prognosis, and management of gliomas.

Objective: : Baculovirus inhibitory of apoptosis repeat-containing 5 (BIRC5) is critically implicated in various types of tumors. However, the specific mechanisms by which it operates in glioma are yet to be fully understood. Methods: : The data sourced from The Cancer Genome Atlas and Gene Expression Omnibus were merged and analyzed using the R software to investigate the relationship between BIRC5 expression and prognosis and diagnosis outcomes. This exploration was conducted utilizing various biological information repositories. The correlation between BIRC5 and immunity was obtained based on TIMER and TISIDB databases. Results: : Gliomas displayed a markedly elevated level of BIRC5 expression compared to adjacent tissues. Patients with glioma who exhibit elevated levels of BIRC5 experience poorer prognoses and shorter survival times. Subgroup classification further revealed that heightened expression of BIRC5 led to diminished overall survival. Analysis of logistic regression and COX indicated that expression of BIRC5 serves as a risk factor in glioma development. Functional enrichment pathways showed that the 72 hub genes related to BIRC5 were mainly closely related to nuclear division, spindle, tubulin binding, and cell cycle in glioma patients. BBIRC5 methylation suggested that BIRC5 might influence the immune response regulation and the tumor microenvironment within gliomas. BIRC5 is associated with many chemicals. Additionally, studies conducted using cell experiments and pathological sections have consistently shown that BIRC5 expression is higher in tumor cells compared to normal cells and tissues. Conclusion : BIRC5 holds promise as a valuable tool in the diagnosis, prognosis, and management of gliomas.

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.

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.