1.Analysis of serological and molecular genetic characteristics of a Chinese pedigree with a B(A)06 subtype.
Dongdong TIAN ; Ding ZHAO ; Wei LI ; Zhihao LI ; Jiali YANG ; Yongfang ZHANG ; Liuchuang ZHENG
Chinese Journal of Medical Genetics 2026;43(3):220-227
OBJECTIVE:
To explore the serological and molecular genetic characteristics of a family with subtype B(A)06.
METHODS:
A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036).
RESULTS:
The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family.
CONCLUSION
The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans
;
ABO Blood-Group System/genetics*
;
Female
;
Pedigree
;
Male
;
Infant, Newborn
;
Asian People/genetics*
;
Genotype
;
China
;
Blood Grouping and Crossmatching
;
Hyperbilirubinemia, Neonatal/blood*
;
East Asian People
2.The application of micro-debridement positioning suture in poor perineal wound healing after delivery
Yongfang MU ; Dan HU ; Maojing ZHAO ; Yangqin CHEN ; Yanyan ZHANG
China Modern Doctor 2025;63(18):14-17
Objective To investigate the clinical effect of micro-debridement and positioning suture in the treatment of poor perineal wound healing after delivery.Methods 106 pregnant women who were eligible for poor healing of perineal wounds(deep skin and muscle defragmentation,involving muscle layer depth ≥1 cm)after vaginal delivery in Affiliated Hospital of Zunyi Medical University were selected as the research objects from June 2021 to October 2024.From June 2021 to December 2022,53 cases in control group were treated with traditional anticipation therapy 1:5000 potassium permanganate solution shallow sitz bath,and from January 2023 to October 2024,53 cases in experimental group were treated with micro-debridement positioning suture.After the operation,follow-up was established with the pregnant women to evaluate the healing cycle of perineal wound,the degree of wound pain 7 days after the operation,the wound healing situation and the cure rate 1 month after the operation.Results The healing period of perineal wound in experimental group was shorter than that in control group;The degree of wound pain in experimental group was lower than that in control group 7 days after operation;The wound healing of one month after operation in experimental group was higher than that in control group;The effective rate of experimental group was higher than that of control group,the differences were statistically significant(P<0.05).Conclusion The use of micro-debridement and positioning suture in the treatment of poor perineal wound can shorten the healing period of perineal wound,reduce the degree of wound pain,the wound healing is good,and the treatment efficiency is good.
3.Comparison of phenotypes and mechanistic characteristics in two mouse models of sarcopenia
Qiang JIANG ; Jie YU ; Zixiang GENG ; Ning WANG ; Jia GUO ; Guangyue YANG ; Peige WANG ; Yongfang ZHAO
Chinese Journal of Tissue Engineering Research 2025;29(14):2922-2929
BACKGROUND:Dexamethasone and hindlimb suspension are commonly used methods for modeling sarcopenia in animal experiments due to their short modeling time,ease of operation,and low cost.OBJECTIVE:To compare the differences in muscle mass,strength and functional phenotypes and molecular mechanisms between two mouse sarcopenia models induced by dexamethasone and hindlimb suspension.METHODS:Thirty male C57BL/6 mice were randomly divided into three groups(n=10 per group).The normal control group received no intervention.The dexamethasone group received daily intraperitoneal injections of 1 mg/kg/d dexamethasone sodium phosphate solution for 6 continuous days to establish sarcopenia models in mice,while mice in the hindlimb suspension group were suspended by tail harness for 16 hours,once per day,to establish sarcopenia models.Within 6 weeks after modeling,changes in body mass were monitored.After 6 weeks of modeling,mice were tested for limb grip strength,mobility(swimming test),skeletal muscle wet mass,and skeletal muscle pathological morphology.Expressions of skeletal muscle protein synthesis and catabolism indexes as well as the AMPK/FoXO3α signaling pathway were detected by RT-PCR and western blot.RESULTS AND CONCLUSION:(1)Two weeks after modeling,both dexamethasone and hindlimb suspension groups showed a significant decrease in body mass compared with the normal control group(P<0.001).After 6 weeks of modeling,grip strength of mice in both dexamethasone and hindlimb suspension groups was lower than that in the normal control group(P<0.001).The wet mass of gastrocnemius and extensor digitorum longus muscles and the cross-sectional area of gastrocnemius and soleus muscles in the dexamethasone group were lower than those in the normal control group(P<0.05).Compared with the hindlimb suspension group,the cross-sectional area of gastrocnemius muscle was significantly smaller in the dexamethasone group(P<0.05),while the cross-sectional area of soleus muscle was larger in the dexamethasone group(P<0.05).Mice in the dexamethasone group had reduced mobility when compared with those in the normal control group and the hindlimb suspension group(P<0.05).(3)Compared with the normal control group,PI3K,mTOR,AMPK,and PGC-1α mRNA expression and P-AMPK/AMPK protein were decreased in the two modeling groups(P<0.05),and FoXO3α mRNA expression and PGC-1α and FoXO3 protein expression were elevated(P<0.05);in the dexamethasone group,Akt1 mRNA expression was decreased(P<0.05),while Atrogin-1 and MuRF-1 mRNA expression was elevated(P<0.05);in the hindlimb suspension group,Akt1 mRNA expression was elevated(P<0.05).(4)Compared with the dexamethasone group,mTOR,Akt1,and FoXO3α mRNA expression was elevated in the hindlimb suspension group(P<0.05),while Atrogin-1 and MuRF-1 mRNA expression was decreased(P<0.05).To conclude,both modeling methods could decrease the levels of mitochondrial energy metabolism in skeletal muscle,with the dexamethasone group mediating atrophy of skeletal muscle through the dual action of ubiquitin proteasome and energy metabolism pathways,and the hindlimb suspension group inducing atrophy of skeletal muscle by mediating the energy metabolism pathway through the AMPK/FoXO3α signaling pathway,subsequently causing a reduction in mass,strength,and function of skeletal muscle.
4.Arterial aging in naturally aging Wistar rats and the intervention effect of Rhizoma Polygonati
Zhen QIN ; Yongfang SHI ; Qin ZHAO ; Na LI ; Jianwei XU ; Libing YE
Acta Laboratorium Animalis Scientia Sinica 2025;33(10):1422-1430
Objective To explore the effect of Rhizoma Polygonati(RP)on arterial aging in naturally aging Wistar rats.Methods SPF Wistar rats aged 72 weeks were divided randomly divided into 4 groups:an old group and RP low,medium,and high-dose groups(n=14 rats per group).Another 14 male SPF Wistar rats aged 8~12 weeks were selected as the young group.Rats in the RP high,medium,and low-dose groups were administered with 4,2,and 1 g/kg RP,respectively,by gavage,and rats in the old and young groups were given the same amount of distilled water once a day for 12 weeks.Seven rats from each group were sacrificed under anesthesia at weeks 4 and 12 and aortas were isolated.The relative smooth muscle cell(SMC)and collagen fiber(CF)contents were analyzed,total antioxidant capacity(T-AOC),glutathione peroxidase(GSH-Px),superoxide dismutase(SOD),and malondialdehyde(MDA)levels were measured,and the expression levels of cell cycle-associated proteins in arterial tissue were detected by Western Blot.Results Rats in the old group showed obvious signs of vascular aging but there was no significant changes in arterial vascular tissue indexes in the old group with increased age.Aortas were obviously injured,relative contents of SMC and CF were significantly increased(P<0.01),T-AOC,SOD,and GSH-Px contents were significantly decreased and MDA was increased(P<0.01)in the old group compared with the young group at 4 and 8 weeks,and expression levels of cell cycle-associated proteins were significantly up-regulated(P<0.01).RP intervention significantly decreased the relative SMC and CF contents and MDA levels(P<0.05 or P<0.01)and significantly increased T-AOC,SOD,and GSH-Px(P<0.05 or P<0.01).Expression levels of cell cycle-associated proteins were also significantly decreased(P<0.05 or P<0.01).High-dose RP had the greatest effect.Conclusions Arterial aging is relatively stable in the short term in naturally aging rats.RP could delay arterial aging in naturally aging rats by regulating the level of oxidative stress and the expression of cell cycle-associated proteins.
5.A comparative study of asymmetrical prominent veins sign in stroke based on susceptibility maps and phase maps
Yongfang YIN ; Yan LIANG ; Yuhuan WANG ; Hao FANG ; Haibo LIU ; Yanling ZHAO
Journal of Practical Radiology 2025;41(10):1600-1603
Objective To explore the value of the minimum intensity projection(minIP)images generated by post-processing of susceptibility weighted imaging(SWI)and corrected phase image(CPI)in evaluating the asymmetrical prominent veins sign(APVS)in acute ischemic stroke.Methods A retrospective analysis was conducted on 86 patients with acute ischemic stroke.Group A underwent conventional SWI reconstruction to generate minIP images,while group B used CPI for re-reconstruction to produce minIP images.Both groups used the same scanning method but different post-processing techniques to generate two sets of images,with each group consisted of 86 patients.Two deputy chief physicians of imaging diagnostics scored subjectively with a double-blind 5-point method to compare the ability of the two groups to display APVS and analyze the display rate of APVS.Results The subjective scores of group B were significantly higher than those of group A,with a statistically significant difference(P<0.05).The display rates of APVS in groups A and B were 67.44%and 73.26%respectively.Group B had a higher display rate of APVS below the tentorium cerebelli than above it.Conclusion The minIP images generated by CPI post-processing can achieve the effects similar to phase difference enhanced imaging(PADRE),and is superior to SWI reconstruction method in displaying APVS.It can be used as a supplementary post-processing method when acute stroke shows poor APVS,which has practical clinical application value and can provide more imaging basis for clinical practice.
6.Arterial aging in naturally aging Wistar rats and the intervention effect of Rhizoma Polygonati
Zhen QIN ; Yongfang SHI ; Qin ZHAO ; Na LI ; Jianwei XU ; Libing YE
Acta Laboratorium Animalis Scientia Sinica 2025;33(10):1422-1430
Objective To explore the effect of Rhizoma Polygonati(RP)on arterial aging in naturally aging Wistar rats.Methods SPF Wistar rats aged 72 weeks were divided randomly divided into 4 groups:an old group and RP low,medium,and high-dose groups(n=14 rats per group).Another 14 male SPF Wistar rats aged 8~12 weeks were selected as the young group.Rats in the RP high,medium,and low-dose groups were administered with 4,2,and 1 g/kg RP,respectively,by gavage,and rats in the old and young groups were given the same amount of distilled water once a day for 12 weeks.Seven rats from each group were sacrificed under anesthesia at weeks 4 and 12 and aortas were isolated.The relative smooth muscle cell(SMC)and collagen fiber(CF)contents were analyzed,total antioxidant capacity(T-AOC),glutathione peroxidase(GSH-Px),superoxide dismutase(SOD),and malondialdehyde(MDA)levels were measured,and the expression levels of cell cycle-associated proteins in arterial tissue were detected by Western Blot.Results Rats in the old group showed obvious signs of vascular aging but there was no significant changes in arterial vascular tissue indexes in the old group with increased age.Aortas were obviously injured,relative contents of SMC and CF were significantly increased(P<0.01),T-AOC,SOD,and GSH-Px contents were significantly decreased and MDA was increased(P<0.01)in the old group compared with the young group at 4 and 8 weeks,and expression levels of cell cycle-associated proteins were significantly up-regulated(P<0.01).RP intervention significantly decreased the relative SMC and CF contents and MDA levels(P<0.05 or P<0.01)and significantly increased T-AOC,SOD,and GSH-Px(P<0.05 or P<0.01).Expression levels of cell cycle-associated proteins were also significantly decreased(P<0.05 or P<0.01).High-dose RP had the greatest effect.Conclusions Arterial aging is relatively stable in the short term in naturally aging rats.RP could delay arterial aging in naturally aging rats by regulating the level of oxidative stress and the expression of cell cycle-associated proteins.
7.Comparison of phenotypes and mechanistic characteristics in two mouse models of sarcopenia
Qiang JIANG ; Jie YU ; Zixiang GENG ; Ning WANG ; Jia GUO ; Guangyue YANG ; Peige WANG ; Yongfang ZHAO
Chinese Journal of Tissue Engineering Research 2025;29(14):2922-2929
BACKGROUND:Dexamethasone and hindlimb suspension are commonly used methods for modeling sarcopenia in animal experiments due to their short modeling time,ease of operation,and low cost.OBJECTIVE:To compare the differences in muscle mass,strength and functional phenotypes and molecular mechanisms between two mouse sarcopenia models induced by dexamethasone and hindlimb suspension.METHODS:Thirty male C57BL/6 mice were randomly divided into three groups(n=10 per group).The normal control group received no intervention.The dexamethasone group received daily intraperitoneal injections of 1 mg/kg/d dexamethasone sodium phosphate solution for 6 continuous days to establish sarcopenia models in mice,while mice in the hindlimb suspension group were suspended by tail harness for 16 hours,once per day,to establish sarcopenia models.Within 6 weeks after modeling,changes in body mass were monitored.After 6 weeks of modeling,mice were tested for limb grip strength,mobility(swimming test),skeletal muscle wet mass,and skeletal muscle pathological morphology.Expressions of skeletal muscle protein synthesis and catabolism indexes as well as the AMPK/FoXO3α signaling pathway were detected by RT-PCR and western blot.RESULTS AND CONCLUSION:(1)Two weeks after modeling,both dexamethasone and hindlimb suspension groups showed a significant decrease in body mass compared with the normal control group(P<0.001).After 6 weeks of modeling,grip strength of mice in both dexamethasone and hindlimb suspension groups was lower than that in the normal control group(P<0.001).The wet mass of gastrocnemius and extensor digitorum longus muscles and the cross-sectional area of gastrocnemius and soleus muscles in the dexamethasone group were lower than those in the normal control group(P<0.05).Compared with the hindlimb suspension group,the cross-sectional area of gastrocnemius muscle was significantly smaller in the dexamethasone group(P<0.05),while the cross-sectional area of soleus muscle was larger in the dexamethasone group(P<0.05).Mice in the dexamethasone group had reduced mobility when compared with those in the normal control group and the hindlimb suspension group(P<0.05).(3)Compared with the normal control group,PI3K,mTOR,AMPK,and PGC-1α mRNA expression and P-AMPK/AMPK protein were decreased in the two modeling groups(P<0.05),and FoXO3α mRNA expression and PGC-1α and FoXO3 protein expression were elevated(P<0.05);in the dexamethasone group,Akt1 mRNA expression was decreased(P<0.05),while Atrogin-1 and MuRF-1 mRNA expression was elevated(P<0.05);in the hindlimb suspension group,Akt1 mRNA expression was elevated(P<0.05).(4)Compared with the dexamethasone group,mTOR,Akt1,and FoXO3α mRNA expression was elevated in the hindlimb suspension group(P<0.05),while Atrogin-1 and MuRF-1 mRNA expression was decreased(P<0.05).To conclude,both modeling methods could decrease the levels of mitochondrial energy metabolism in skeletal muscle,with the dexamethasone group mediating atrophy of skeletal muscle through the dual action of ubiquitin proteasome and energy metabolism pathways,and the hindlimb suspension group inducing atrophy of skeletal muscle by mediating the energy metabolism pathway through the AMPK/FoXO3α signaling pathway,subsequently causing a reduction in mass,strength,and function of skeletal muscle.
8.A comparative study of asymmetrical prominent veins sign in stroke based on susceptibility maps and phase maps
Yongfang YIN ; Yan LIANG ; Yuhuan WANG ; Hao FANG ; Haibo LIU ; Yanling ZHAO
Journal of Practical Radiology 2025;41(10):1600-1603
Objective To explore the value of the minimum intensity projection(minIP)images generated by post-processing of susceptibility weighted imaging(SWI)and corrected phase image(CPI)in evaluating the asymmetrical prominent veins sign(APVS)in acute ischemic stroke.Methods A retrospective analysis was conducted on 86 patients with acute ischemic stroke.Group A underwent conventional SWI reconstruction to generate minIP images,while group B used CPI for re-reconstruction to produce minIP images.Both groups used the same scanning method but different post-processing techniques to generate two sets of images,with each group consisted of 86 patients.Two deputy chief physicians of imaging diagnostics scored subjectively with a double-blind 5-point method to compare the ability of the two groups to display APVS and analyze the display rate of APVS.Results The subjective scores of group B were significantly higher than those of group A,with a statistically significant difference(P<0.05).The display rates of APVS in groups A and B were 67.44%and 73.26%respectively.Group B had a higher display rate of APVS below the tentorium cerebelli than above it.Conclusion The minIP images generated by CPI post-processing can achieve the effects similar to phase difference enhanced imaging(PADRE),and is superior to SWI reconstruction method in displaying APVS.It can be used as a supplementary post-processing method when acute stroke shows poor APVS,which has practical clinical application value and can provide more imaging basis for clinical practice.
9.The application of micro-debridement positioning suture in poor perineal wound healing after delivery
Yongfang MU ; Dan HU ; Maojing ZHAO ; Yangqin CHEN ; Yanyan ZHANG
China Modern Doctor 2025;63(18):14-17
Objective To investigate the clinical effect of micro-debridement and positioning suture in the treatment of poor perineal wound healing after delivery.Methods 106 pregnant women who were eligible for poor healing of perineal wounds(deep skin and muscle defragmentation,involving muscle layer depth ≥1 cm)after vaginal delivery in Affiliated Hospital of Zunyi Medical University were selected as the research objects from June 2021 to October 2024.From June 2021 to December 2022,53 cases in control group were treated with traditional anticipation therapy 1:5000 potassium permanganate solution shallow sitz bath,and from January 2023 to October 2024,53 cases in experimental group were treated with micro-debridement positioning suture.After the operation,follow-up was established with the pregnant women to evaluate the healing cycle of perineal wound,the degree of wound pain 7 days after the operation,the wound healing situation and the cure rate 1 month after the operation.Results The healing period of perineal wound in experimental group was shorter than that in control group;The degree of wound pain in experimental group was lower than that in control group 7 days after operation;The wound healing of one month after operation in experimental group was higher than that in control group;The effective rate of experimental group was higher than that of control group,the differences were statistically significant(P<0.05).Conclusion The use of micro-debridement and positioning suture in the treatment of poor perineal wound can shorten the healing period of perineal wound,reduce the degree of wound pain,the wound healing is good,and the treatment efficiency is good.
10.Feasibility analysis and application of ovarian tissue oocyte- in vitro maturation in the patients with malignant tumors undergoing fertility preservation
Weie ZHAO ; Peng SUN ; Panyu CHEN ; Yongfang LI ; Jingjie LI ; Haitao ZENG ; Cong FANG ; Xiaoyan LIANG
Chinese Journal of Reproduction and Contraception 2023;43(2):140-144
Objective:To explore the prospects of ovarian tissue oocyte- in vitro maturation (OTO-IVM) in fertility preservation for patients with malignancy. Methods:OTO-IVM outcomes from 27 malignant tumor patients who underwent fertility preservation in Reproductive Medicine Research Center of the Sixth Affiliated Hospital of Sun Yat-Sen University from March 2017 to August 2022 were analyzed, including the number of mature oocytes (M II oocytes), maturation rate, and maturation time. The fertilization rate, the cleavage rate, and the embryonic development potential of IVM-derived M II were also analyzed. Further, the short-term use of gonadotropin (Gn) in OTO-IVM before ovarian tissue acquisition was initially explored. Results:After OTO-IVM, 81.48% (22/27) of patients had at least one M II oocyte, with a mean number of M II oocytes of 3.00 (1.50, 7.00) and a maturation rate of 38.81%. About 4.85% (13/268) of oocytes matured within 24 h; 14.93% (40/268) matured between 24 h and 36 h; 16.79% (45/268) matured between 36 h and 48 h, and only 2.24% (6/268) matured after 48 h. A total of 41 M II oocytes from 4 patients were fertilized by intracytoplasmic sperm injection (ICSI), with a fertilization rate of 85.37% (35/41), cleavage rate of 94.29% (33/35), variable embryo rate of 54.29% (19/35), and high-quality embryo rate of 34.29% (12/35). The IVM rate was significantly higher in patients who used Gn than in those who did not [63.16% (48/76) vs. 29.17% (56/192), P<0.001]. Conclusion:OTO-IVM can be used as a complementary method for fertility preservation in oncology patients and obtain a certain number of oocytes and embryos. Short-term use of Gn before ovarian tissue acquisition can improve oocyte maturation rate, but further studies are needed to verify the value of Gn in OTO-IVM.

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