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.Genetic analysis of weak expression of ABO blood group antigens in neonates
Jiali YANG ; Ding ZHAO ; Wei LI ; Xiaopan ZHANG ; Zhihao LI ; Dongdong TIAN
Chinese Journal of Blood Transfusion 2025;38(1):85-90
[Objective] To perform genetic analysis on samples with weak agglutination and mixed agglutination of ABO blood group antigens in neonates, and to investigate the molecular biological characteristics of ABO subtypes in neonates. [Methods] Serological identification of ABO blood group was performed by tube method and microcolumn gel method. The ABO exons 2-7 were amplified by PCR, and the amplified products were sequenced by Sanger sequencing method to determine the genotype. [Results] Among the ABO blood group serological results of 14 neonates, 8 cases showed weakened A antigen, and 6 cases showed weakened B antigen. Seven samples were identified with ABO subtype alleles, with genotypes as A102/B101+c.538C>T, Aw26/B102, A205/O02, A205/B101(2 cases), Aw26/O02, B(A)06/O01, B101/O01(3 cases), A102/O01(2 cases), A102/B101 and B101/O02. Additionally, three other family members were also found to carry B(A)06 allele in a pedigree investigation. [Conclusion] For samples showing weakened antigens in ABO blood type identification of neonates, it is necessary to consider the possibility of ABO subtype in addition to age factors, and genetic testing can be used to prevent missed detection of ABO subtypes in neonates.
3.Meta-integration of qualitative studies on body image experience in breast cancer patients
Shu YANG ; Yihui LIN ; Zhihao HAN ; Linxia TANG ; Yunxia QIU ; Xiaoqin MA
Chinese Journal of Nursing 2025;60(14):1786-1792
Objective To systematically integrate the qualitative studies on body image experience in breast cancer patients,in order to provide references for the clinical formulation of corresponding intervention programs.Methods Systematical search was conducted for qualitative studies on the body image experiences of breast cancer patients in databases including PubMed,Web of Science,Cochrane Library,CINAHL,PsycINFO,CNKI,WanFang Database,VIP and CBM.The search period was from the establishment of the database to July 2024.The quality of the literature was evaluated using the 2016 edition of the qualitative research appraisal tool from the Evidence-Based Health Care Center of the Joanna Briggs Research Institute in Australia,and the results were integrated using the pooled integration method.Results A total of 14 pieces of the literature were included,and 36 research results were extracted and summarized into 7 new categories.Totally 3 integrated results were obtained,namely the negative impact of changes in body image,patients' self-adjustment and growth,and patients' need for external support.Conclusion Breast cancer patients are plagued by multiple body images.Medical staff should pay attention to the psychological state of patients,do a good job in health education,improve the understanding and support of the society,provide targeted professional guidance,promote the psychological adaptation of patients,meet the emotional needs of patients,establish multiple support systems,and improve the body image and quality of life of patients.
4.Application of tabletop deduction and simulation drills in the training of infection prevention and control for acute respiratory infectious diseases on hospital ships
Anhua QIAO ; Zhengmei XU ; Li GUI ; Fei PENG ; Jing CHEN ; Zhihao YUE ; Yi CHEN ; Shanshan YANG
Journal of Navy Medicine 2025;46(7):662-666
Objective To carry out a joint simulation exercise of tabletop deduction for the staff performing overseas medical services on hospital ships,so as to improve the infection prevention and control.Methods Sixty mission members were selected by convenience sampling to carry out joint simulation drills for tabletop deduction.The effects of the drills were assessed by the survey on the satisfaction and participation of mission members,before-and-after control study,and mission execution.Results Overseas medical service tasks were successfully completed through the desktop-propelled joint simulation drills.The total score of response for infectious emergencies,prevention score,preparedness score,and rescue score after training were higher than those before training(P<0.05).There were high degrees of participation and satisfaction in the drills(≥4.5 points).Conclusion The tabletop deduction and simulation exercise achieve good results in the infection prevention and control of hospital ships.The scheme of tabletop deduction combined with simulation drills will be optimized to continuously improve the infection prevention and control of hospital ships.
5.Bibliometric analysis of research trends and hotspots in gamma-aminobutyric acid and liver-related diseases
Zhihao BAI ; Jiaxin LI ; Zhen YANG ; Ning ZHOU
Chinese Journal of General Surgery 2025;34(6):1246-1261
Background and Aims:Gamma-aminobutyric acid(GABA),the principal inhibitory neurotransmitter in the central nervous system,has been increasingly recognized in recent years as being closely associated with various liver-related diseases,such as hepatic encephalopathy,liver cirrhosis,and hepatocellular carcinoma.Abnormal GABA expression is strongly linked to pathological processes including cognitive impairment and neuroinflammation.Although numerous studies have investigated the mechanistic roles of GABA in neurological complications of liver disease,a systematic overview of the field's research trends,collaborative networks,and emerging hotspots remains lacking.This study employs bibliometric methods to comprehensively map the evolution and frontier topics in GABA and liver-related disease research from 2005 to 2024,aiming to inform future research planning and resource allocation in this area.Methods:English-language publications from 2005 to 2024 related to GABA and liver-related diseases were retrieved from the Web of Science Core Collection.Eligible articles were analyzed using VOSviewer,CiteSpace,and the R package"bibliometrix"to visualize and evaluate contributions by countries/regions,institutions,authors,and journals.Additional analyses included keyword clustering,co-citation analysis,and thematic evolution of research topics.Results:A total of 237 articles were included,contributed by 1 340 authors across 456 institutions in 47 countries,and published in 168 journals.The United States and China are leading contributors in this field.Although countries such as the United Kingdom and Italy had fewer publications,they demonstrated higher average citation counts,indicating strong research quality.Notably,Spain's Centro Investigación Principe Felipe and the research team led by Felipo Vicente exhibited high academic influence.Neurochemistry International and Hepatology were identified as core journals,with Hepatology having the highest impact factor(12.9).Keyword clustering revealed major research focuses including the regulatory role of GABA in the neural mechanisms of hepatic encephalopathy,the impact of liver-related metabolic disorders on neurotransmitter balance,the development and evaluation of GABA receptor-targeted therapeutics,and the function of the GABAergic system in the pathogenesis of hepatocellular carcinoma.As research deepens,the frequency of emerging keywords has diversified,with recent emphasis on terms such as"quality of life,""gene expression,"and"fatty liver disease,"reflecting a shift from fundamental mechanisms to clinical translation and interdisciplinary integration.Conclusion:The relationship between GABA and liver diseases has become a focal point of interdisciplinary research.Investigations have expanded from pathological mechanisms to therapeutic applications,with growing interest in GABA's roles in hepatic encephalopathy,metabolic dysregulation,and tumor progression.Future studies should explore the specific functions of GABA receptor subtypes,promote the development of precision-targeted therapies,and investigate novel mechanisms such as the gut microbiota-GABA metabolism-brain-liver axis to broaden the clinical and translational potential of GABA in neurological,metabolic,and oncological contexts.
6.Detection research of diatom by gene arrays in drowning cases
Ping YANG ; Yongjun XIA ; Min RAO ; Zhihao ZHANG ; Bo XIE ; Weiwen CAI ; Xiaoli WANG
Chinese Journal of Forensic Medicine 2025;40(1):56-59
Objective To detect diatoms in tissues and water samples from drowning cases by gene array,and explore the application value of DNA microarray.Methods Diatoms in the lung,liver,kidney samples,and on-site water samples from 19 drowned corpses that appeared in the rivers of Zhongshan City between July 2021 and April 2022,were detected by gene arrays.Moreover,diatom detection was also performed on 28 samples from 7 corpses by microscope.Then the testing results were compared and analyzed.Results For those 28 samples,diatom types in both tissue and water samples by gene detection were more than those detected by microscopy,the detection was statistically significant(P<0.05).However,there was no statistically significant difference(P>0.05)in the detection of diatom types between tissue samples and water samples both using gene arrays.In terms of tissue samples,diatoms were easier to be detected in lung than liver or kidney,and there were also more types of diatoms detected in lung.Diatom detection by gene arrays showed that the diatom types showed a decreasing trend as the tissue was further away from the entrance of body,and the difference of diatom types increased among tissues.Conclusion The gene array can effectively detect the diatom types and distribution characteristics in drowned corpses,and has great potential in the research of the traceability analysis of corpses found in water and the causes of death.
7.Identification results and distribution pattern of unexpected antibodies in 22 336 hospitalized pediatric patients
Xiaopan ZHANG ; Jiali YANG ; Zhihao LI ; Ding ZHAO ; Dongdong TIAN
Chinese Journal of Blood Transfusion 2025;38(12):1735-1741
Objective: To explore the positive rate and distribution characteristics of unexpected antibodies in hospitalized children. Methods: A total of 22 336 hospitalized pediatric patients admitted to Henan Children's Hospital from August 2018 to September 2022 were selected as the research subjects, and their relevant clinical data were collected. Blood samples of the patients were subjected to blood type identification and unexpected antibody screening. For samples with positive screening results, further antibody specificity identification was conducted using panel cells. The distribution patterns of unexpected antibodies across different genders, age groups, blood types, and disease categories were analyzed, and inter-group differences were compared. Results: Of the 22 336 patients, 286 (1.3%) tested positive for unexpected antibodies. The most frequently identified specificities belonged to the MNS blood group system (45.1%, 129/286), followed by the Rh system (24.5%, 70/286) and antibodies of undetermined specificity (24.5%, 70/286). Less common specificities included those from the P blood group system (2.4%, 7/286), Lewis blood group system (1.4%, 4/286), mixed antibodies from multiple systems (0.9%, 3/286), drug-induced antibodies (0.7%, 2/286), and LW blood group system (0.3%, 1/286). Within the MNS blood group system, anti-M was the most prevalent (129 cases). In the Rh blood group system, anti-E (30 cases, 10.5%) and anti-D (28 cases, 9.8%) were the main antibodies detected; other antibodies included anti-DE (4 cases, 1.4%), anti-DC (3 cases, 1.0%), anti-Ec (3 cases, 1.0%), and anti-c (2 cases, 0.7%). Only anti-P
was identified in the P blood group system (7 cases), while anti-Lea was found in the Lewis blood group system (4 cases) and anti-LW in the LW blood group system (1 case). Mixed antibodies from multiple systems consisted of anti-D+Fy
, anti-e+Fy
, and anti-Le
+P
, with 1 case (0.3%) each. Among the antibodies with undefined specificity, 26 cases were autoantibodies. All drug-induced antibodies were anti-CD38 (2 cases). The distribution of unexpected antibodies showed statistically significant differences among different genders, ages, and ABO blood types (P<0.05). Regarding age distribution, Rh blood group antibodies associated with hemolytic disease of the fetus and newborn (HDFN) were predominant in the 0-1 month group, which differed significantly from all other age groups (P<0.001). In contrast, anti-M was predominant in children over 1 year of age (89.0%), while anti-E was detected in only 3 cases (10.0%) in children over 3 years old. After Bonferroni correction (α' = 0.003 3), a statistically significant difference was observed only between the 6-17 year group and the 1-3 year group (P=0.003). Among ABO blood types, type B had the highest antibody detection rate. Following Bonferroni correction (α' ≈ 0.008 3), a significant difference in detection rates was found solely between type B and type O blood (P=0.005), with no statistically significant differences among other blood types (P>0.008 3). Conclusion: In hospitalized pediatric patients, unexpected antibodies were mainly distributed in the MNS and Rh blood group systems, with anti-M being the most commonly detected specificity and anti-E the most prevalent within the Rh system.. Sex, age and blood type significantly influence the development of unexpected antibodies. Clinically, it is necessary to pay attention to the prenatal monitoring of unexpected antibodies in pregnant women, so as to achieve homotypic transfusion of other Rh antigens as early as possible.
8.Association between household solid fuel use for cooking and depressive symptoms among middle-aged and elderly adults in rural China: Evidence from the China Family Panel Studies Database
Ting YANG ; Yong LIU ; Xufeng LI ; Yun GAI ; Zhihao XIE ; Junkui WANG ; Yong YU ; Jingxuan WANG
Journal of Environmental and Occupational Medicine 2025;42(8):926-931
Background Although current evidence suggests a link between outdoor air pollution and depressive symptoms, the effect of solid fuel use (a significant indoor air pollutant) on depressive symptoms in China's rural middle-aged and elderly population remains poorly understood. Objective To explore the association between solid fuel use for cooking and depressive symptoms among middle-aged and elderly people in rural areas of China, and to provide a basis for the prevention and control of depressive symptoms among residents in rural areas. Methods Data were obtained from the 2020 China Family Panel Studies (CFPS), depressive symptoms were assessed using 8-item Center for Epidemiologic Studies Depression Scale (CES-D), and cooking fuel type was self-reported. Subsequently, two-level binary unconditional logistic regression models were fitted to assess the impact of solid fuel use for cooking on depressive symptoms. Results A total of
9.Adverse effects of mild traumatic brain injury on patients′ memory monitoring function
Yuyang Wang ; Bangyue Wang ; Zhihao Yang ; Xingrui Liu ; Xingui Chen
Acta Universitatis Medicinalis Anhui 2025;60(1):167-172
Objective :
To explore the adverse effects of mild traumatic brain injury ( MTBI) on the memory monito- ring function of patients.
Methods :
This study adopted a paired control research method,combined neuropsycho- logical background tests and memory monitoring task ( feeling of knowing,FOK) to conduct cognitive assessments on two groups of subjects: the patient group ( n = 42) and the matched control group ( n = 42) .
Results :
In neuropsychological background test,the patients' performance in digit span test,Stroop color task,digit link task and auditory verbal learning test were significantly lower than those in the control group ( P<0. 05) .In addition,there was significant difference in accuracy of FOK task between the two groups ( P <0. 05) .The ratio of right judge- ment / right recognition was relatively high in the control group,while the ratio of correct judgement /wrong recogni- tion was relatively high in the patient group.
Conclusion
This study confirms that memory impairment in MTBI patients is centered on damage to memory monitoring function.Moreover,the damage to attention,execution,and item content memory abilities in MTBI patients are important driving factors for their memory monitoring dysfunction.
10.Comparison and application of grading and classification methods for nuclear medicine workplaces
Yong YANG ; Xiang GAO ; Zhihao JU ; Haiyang DONG ; Fan BAI ; Liping ZENG
Chinese Journal of Radiological Health 2025;34(6):800-804
Objective To analyze the differences and connections between the current grading and classification methods for nuclear medicine workplaces, and to provide technical guidance for environmental impact assessments and technical reviews. Methods By comparing the objects, purposes, and computational approaches between the two methods, this article illustrates the usage of both methods through specific examples and analyzes the relationship between them. Results The two methods differed in objects, purposes, and computational approaches. The A, B, and C grading scheme was primarily used to establish the level of administrative supervision for an entire nuclear medicine workplace. In contrast, the I, II, and III classification system specifies the hardware facilities and engineering protection requirements of internal places or rooms. Conclusion These two methods are complementary and collectively provide a complete framework for the assessment of nuclear medicine workplaces.


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