Deficiencies remain in the early identification and screening method for type 2 diabetes mellitus(T2DM).Relying solely on blood glucose indicators as diagnostic criteria fails to capture the systematic evolution of glucose metabolism destabilization and does not allow for the identification of the critical transition period preceding the onset of T2DM.In the complex system of the human body,structural and state variables correspond to the traditional Chinese medicine concepts of"zang"and"xiang."These variables determine the landscape of the systemic state changes over time.The pathogenesis of T2DM is characterized by a shift from compensatory insulin secretion to β-cell dysfunction,driven by negative-positive feedback dynamics,ultimately resulting in a marked increase in blood glucose levels.A critical transition exists between glycemic homeostasis and the establishment of T2DM disease homeostasis.Using theoretical approaches such as critical slowing and dynamic network markers in dynamical systems theory,various clinical case data-including four-diagnosis information,multiple biological samples,and histological analysis method-can be leveraged to identify the critical transition key stage from pre-disease to disease of T2DM,facilitating early intervention.This paper aims to develop a dynamic model describing the transition from"glucose homeostasis-glycemic state of instability-steady state of T2DM"by analyzing the mechanism of the complex human system and the dynamic characteristics underlying T2DM onset.This framework aims to enhance early identification method.Establishing this holistic approach offers a novel perspective for the prevention and treatment of T2DM.

Deficiencies remain in the early identification and screening method for type 2 diabetes mellitus(T2DM).Relying solely on blood glucose indicators as diagnostic criteria fails to capture the systematic evolution of glucose metabolism destabilization and does not allow for the identification of the critical transition period preceding the onset of T2DM.In the complex system of the human body,structural and state variables correspond to the traditional Chinese medicine concepts of"zang"and"xiang."These variables determine the landscape of the systemic state changes over time.The pathogenesis of T2DM is characterized by a shift from compensatory insulin secretion to β-cell dysfunction,driven by negative-positive feedback dynamics,ultimately resulting in a marked increase in blood glucose levels.A critical transition exists between glycemic homeostasis and the establishment of T2DM disease homeostasis.Using theoretical approaches such as critical slowing and dynamic network markers in dynamical systems theory,various clinical case data-including four-diagnosis information,multiple biological samples,and histological analysis method-can be leveraged to identify the critical transition key stage from pre-disease to disease of T2DM,facilitating early intervention.This paper aims to develop a dynamic model describing the transition from"glucose homeostasis-glycemic state of instability-steady state of T2DM"by analyzing the mechanism of the complex human system and the dynamic characteristics underlying T2DM onset.This framework aims to enhance early identification method.Establishing this holistic approach offers a novel perspective for the prevention and treatment of T2DM.

Objective:To explore the clinical value of preconception expanded carrier screening (PECS) in Chinese Han population of childbearing age.Methods:The gene detection results of infertile couples with PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University from September 2019 to May 2022 were analyzed retrospectively. The carrier rate of pathogenic gene, the detection rate of high-risk couples and the clinical outcome of high-risk couples were counted and analyzed.Results:A total of 1 565 patients received PECS and they were all Chinese Han. A total of 504 patients received the 108 extended monogenic diseases testing, including 420 females and 84 males, the overall carrier rate of the target genes was 30.75% (129/420), and the detection rate of high-risk couples was 1.19% (1/84), the higher carrier rates of the tested genes were MMACHC [2.58% (13/504)], ATP7B [2.38% (12/504)], SLC22A5 [2.18% (11/504)], GALC [1.79% (9/504)], PAH [1.79% (9/504)] and MLC1 [1.19% (6/504)], the rest are less than 1%. There were 555 patients accepted FMR1 gene detection, and 5 patients with FMR1 gene mutation, accounting for 0.90%. Testing for direct relatives of patients with complete mutations, her mother is a pre mutation carrier with a CGG repeat count of 105. A total of 502 patients accepted SMN1 gene testing. Totally 14 femals and 2 males were found to be SMN1 gene carriers in this study, with a carrier rate of 3.19%. Conclusion:The carryier rate of single gene recessive disorder is high in the population. Screening before pregnancy can provide birth health guidance for patients, help them to choose preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis, to avoid the birth of silk children.

Objective:To explore the clinical value of preconception expanded carrier screening (PECS) in Chinese Han population of childbearing age.Methods:The gene detection results of infertile couples with PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University from September 2019 to May 2022 were analyzed retrospectively. The carrier rate of pathogenic gene, the detection rate of high-risk couples and the clinical outcome of high-risk couples were counted and analyzed.Results:A total of 1 565 patients received PECS and they were all Chinese Han. A total of 504 patients received the 108 extended monogenic diseases testing, including 420 females and 84 males, the overall carrier rate of the target genes was 30.75% (129/420), and the detection rate of high-risk couples was 1.19% (1/84), the higher carrier rates of the tested genes were MMACHC [2.58% (13/504)], ATP7B [2.38% (12/504)], SLC22A5 [2.18% (11/504)], GALC [1.79% (9/504)], PAH [1.79% (9/504)] and MLC1 [1.19% (6/504)], the rest are less than 1%. There were 555 patients accepted FMR1 gene detection, and 5 patients with FMR1 gene mutation, accounting for 0.90%. Testing for direct relatives of patients with complete mutations, her mother is a pre mutation carrier with a CGG repeat count of 105. A total of 502 patients accepted SMN1 gene testing. Totally 14 femals and 2 males were found to be SMN1 gene carriers in this study, with a carrier rate of 3.19%. Conclusion:The carryier rate of single gene recessive disorder is high in the population. Screening before pregnancy can provide birth health guidance for patients, help them to choose preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis, to avoid the birth of silk children.

Objective To investigate the relationship between frailty and serum biomarkers in the elderly. Methods A total of 371 elderly individuals aged 60 years and above with complete medical data were recruited during health examinations. Frailty phenotype assessment and comprehensive geriatric assessment were conducted.Serum levels of interleukin-6 (IL-6 ) ,high sensitivity C-reactive protein(hs-CRP) ,tumor necrosis factor-α(TNF-α) ,homocysteine(Hcy) ,insulin-like growth factor-1(IGF-1) ,25-hydroxyvitamin D[25(OH)D] ,folic acid and vitamin B12(VitB12) were detected by enzyme-linked immunosorbent assays ( ELISA ) and chemiluminescence immunoassays. Associations between frailty and the above factors were analyzed. Results Serum levels of IL-6 ,TNF-α ,Hcy and IGF-1 were significantly elevated along with progressive increase in frailty severity(all P＜0.05).There were a downward trend in serum 25(OH)D levels and an upward trend in serum hs-CRP ,folic acid and VitB12 levels as frailty severity increased ,but the changes did not amount to any statistical significance(all P＞0.05).Logistic regression analysis showed that ,after adjusting for age ,gender ,body mass index (BMI)and some clinical aspects (hearing loss ,urinary incontinence ,pain ,malnutrition ,cognitive dysfunction ,decreased activities of daily living ,depression , insomnia ,and anemia) ,serum levels of IL-6(OR=1.012 ,95% CI=1.005-2.041 ,P=0.033) ,IGF-1 (OR= 1.017 ,95% CI = 1.011-1.118 ,P= 0.021)and Hcy (OR= 1.007 ,95% CI :1.002-1.073 ,P=0.047)were significantly associated with frailty status. Conclusions Serum levels of IL-6 ,Hcy and IGF-1 are related to frailty status and may be used as potential biomarkers for the assessment of frailty in older adults.

Objective To analyze the expression of the placenta Grb10 from women conceived by transferred thawed blastocyst,and to evaluate the security of blastocysts vitrification.Methods A cross-sectional study was performed in the Department of Obstetrics and Gynecology of Fujian Provincial Maternity and Children's Hospital from January 2012 to May 2014,50 women conceived by transferring thawing blastocyst and 50 natural pregnancy control women were enrolled in this study.The expression of Grb10 protein was detected by immunohistochemistry and Western blot,and the expression of Grb10 mRNA was detected by Realtime PCR method.Results Comparison of two cases of gestational age,gestational age,fetal sex,fetal body weight,body length,head circumference,abdominal circumference,there were no significant differences(P＞0.05),comparison of placental area,placental weight,the difference was statistically significant(P＜0.05).Real-time PCR and Western blot results showed that,there was no significant difference in the expression of Grb10 mRNA and protein between the two groups(P＞0.05).Conclusion Blastocysts vitrification may increase the area and quality of delivery of placenta,however,there was no significant change in the expression of Grb10 in placenta.

OBJECTIVETo develop a simple, cheap and efficient restriction endonucleases fingerprinting-single strand conformation polymorphism(REF-SSCP) method applied to screen for mutations in long segments.

METHODSThe genomic DNA of Cx26 gene segment of the patients with deafness was amplified. The amplification products were screened with SSCP and REF-SSCP technique and DNA sequencing to evaluate and compare the effect on detection of mutations in long segments.

RESULTSNo different band was found in 724 bp segment in SSCP examination. Three kinds of different bands were discovered in REF-SSCP examination and the 79 G -->A mutation detected by DNA sequencing were accorded with the REF-SSCP bands entirely. The rate of detection was 100%.

CONCLUSIONThe present REF-SSCP method is applicable to screen mutations in long segment DNA of mass specimens.

Connexin 26 ; Connexins ; genetics ; DNA Fingerprinting ; methods ; DNA Restriction Enzymes ; Deafness ; genetics ; Genetic Testing ; methods ; Humans ; Mutation ; Polymorphism, Single-Stranded Conformational ; Sensitivity and Specificity