Objective: To develop a RHCE genotyping assay based on kompetitive allele-specific PCR (KASP) and assess its clinical accuracy for RhCE blood group determination. Methods: KASP primers were designed to interrogate three RHCE loci: the 109 bp insertion/deletion in intron 2, c. 307T>C, and c. 676C>G. A total of 1 194 RhD-positive inpatients from Chengdu were typed by both KASP genotyping and manual tube serology. Discordant samples (n=10) were retested by both methods and further resolved by Sanger sequencing. An additional 377 cases were tested for the c. 48C>G locus to evaluate the predictive accuracy of individual loci and combined locus testing for RhC antigen. Results: Genotyping concordance with serology was 100.0% for both the c. 676C>G locus (RhE/Rhe) and the c. 307T>C locus (Rhc). For RhC prediction using the 109 bp insertion, overall accuracy was 99.7% (1 191/1 194); the 3 discordant cases were confirmed by Sanger sequencing to be false negatives attributable to 109 bp deletion in intron 2. Testing the c. 48C>G allele for RhC prediction yielded 7 false positives, with an accuracy of 98.1% (370/377). RhC antigen status was determined by combining the 109 bp insertion and the c. 48C allele. After excluding 10 samples with inconsistent results between the two loci, the accuracy reached 100% in the remaining 367 samples. When both loci were applied in combination, accuracy reached 100% in the 367 cases with concordant results. Among the 1 194 patients, CCee (45.8%) and CcEe (31.7%) were the most common RhCE phenotypes. The e antigen had the highest positivity rate (92.2%), and the Ce haplotype was the most frequent (66.9%). Conclusion: The KASP-based RHCE genotyping method achieves high accuracy for clinical RhCE typing. Combining the 109 bp insertion/deletion with the c. 48C allele significantly improves RhC antigen prediction compared with either locus alone. This method was applied to RhCE genotyping of 1 194 RhD-positive inpatients in Chengdu, providing local RhCE phenotype and haplotype distribution data to support RhCE-matched transfusion practice.

Objective: To explore the relative importance of different food attributes and levels in food decision making of school aged children, and to understand their meal preferences, so as to provide the evidence for formulating precise intervention strategies for dietary behaviours of school aged children. Methods: From May to June 2024, a total of 854 children aged 11 to 15 years old were selected from 2 middle schools (each school in urban and rural areas) in both Hubei Province and Anhui Province by stratified cluster random sampling method to conduct a D-optimal discrete choice experiment. The mixed Logit model was used to analyze children s preference for meal attributes and different levels, and to calculate the relative importance (RI) of attributes and willingness to pay (WTP) in meal choices. Results: The included five food attributes had statistical significance on meal choice of school aged children ( P <0.05). The relative importance of food attributes affecting the meal choices of school aged children in descending order were dining mode ( RI =31.26%), food varieties ( RI =30.56%), cooking method( RI =23.84%), taste( RI =8.06%) and price ( RI =6.27%). Among them, school aged children preferred home cooked meals ( β =0.74) (WTP=86.3 yuan),varied foods(grain/tubers+vegetables+fish, meat, eggs and beans) ( β =0.61) (WTP=71.9 yuan), fried/roasted cooking ( β =0.51) and spicy taste ( β =0.33).Price was negatively correlated with meal choices( β =-0.01) ( P <0.05). Based on residential area and body mass index (BMI), the stratified analysis showed that dining mode was highest in the relative importance for rural children with overweight and obese children ( RI =31.28%,34.17%), both of whom preferred home cooked meals ( β =0.76, 0.91), and meals containing fish, meat, eggs and beans with grain/tubers or grain/tubers and vegetables in terms of food choice (area: β =0.53, 0.53 ; BMI: β =0.55, 0.56) ( P <0.05). Conclusions School aged children have different preferences for different attributes of meals. The quality of school meals should be improved,the cost of buying healthy meals should be reduced,targeted family health education should be carried out,and healthy cooking methods should be advocated.

Objective:To explore the carrier rate and the genetic distribution characteristics of spinal muscular atrophy(SMA)pathogenic genes in Huizhou,and analyze the prenatal diagnosis results of fetuses from couples who are both carriers,in order to provide scientific reference for genetic counseling and prenatal diagnosis.Meth-ods:13472 peripheral blood samples were collected for the survival motor neuron gene 1(SMN1)testing at Huizhou First Maternal and Child Health Care Hospital from August 2021 to October 2024.And prenatal diagnosis was conducted on high-risk pregnant couple who were both carriers of SMA pathogenic genes.Fluorescence quantitative polymerase chain reaction(PCR)was used to detect the copy numbers of SMN1 exon 7 and 8(E7,E8),screen for SMA pathogenic gene carriers,and calculate the carrier rate.For samples identified as homozy-gous deletions and prenatal diagnosis samples,further validation of copy number variations in E7 and E8 of the SMN1 gene was performed using multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among the 13472 screened individuals,268 carriers of the SMA pathogenic gene were detected,with a carrier rate of approximately 1/50(1.99％,268/13472).Among them,there were 251 cases of E7 and E8 heterozygous dele-tion,3 cases of E7 heterozygous deletion and E8 homozygous deletion,and 14 cases of pure E7 heterozygous de-letion;2 cases of E7 and E8 homozygous deletion were detected.One case had obvious motor developmental dis-orders in the child,and the other case had a normal phenotype in the pregnant woman.Among 20 couples who were both SMA carriers,17 pregnant women underwent prenatal diagnosis.The results showed that 4 cases were normal E7 and E8 types,7 cases were E7 and E8 heterozygous deletion types,all of whom continued to conceive.6 cases were E7 and E8 homozygous deletion type,namely SMA patients,and the pregnancy was terminated by pregnant women.Conclusions:This study reports the carrier rate of SMA pathogenic genes in the population of Huizhou for the first time,and the combined use of MLPA for prenatal diagnosis of high-risk couples can effective-ly prevent the birth of SMA children,which is of great significance for the prevention and control of SMA birth de-fects.

OBJECTIVE: To analyze the hematological characteristics of patients with three common deletional β-thalassemia and concomitant α-thalassemia in Huizhou, Guangdong province. METHODS: A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥ 5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thalassemia, respectively. The hematological characteristics of patients with the deletional β-thalassemia were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)]. RESULTS: A total of 384 cases of the three common deletional β-thalassemia were identified, including 184 cases of Chinese Gγ⁺(Aγδβ)⁰, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Chinese Taiwanese, for a total detection rate of 28.76%. Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A2 levels in patients with Chinese Gγ⁺(Aγδβ)⁰, the levels of Hb A2 in patients with the other two deletional β-thalassemia were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A2 and Hb F values among the groups of the three common deletional β-thalassemia heterozygotes (P < 0.05). According to the type of gene variation, 180 patients with Chinese Gγ⁺(Aγδβ)⁰ heterozygotes were divided into three groups, including αα/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (149), -α/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (14), and --/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β^N (150), -α/αα, SEA-HPFH/β^N (12), and --/αα, SEA-HPFH/β^N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ⁺(Aγδβ)⁰ combined with α⁰-thalassemia group were significantly lower than those of the Chinese Gγ⁺(Aγδβ)⁰ combined with α⁺-thalassemia group and the control group (P < 0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α⁰-thalassemia group were significantly lower than those of the SEA-HPFH combined with α⁺-thalassemia group and the control group (P < 0.05). CONCLUSION The above research results can not only enhance the ability of clinicians to identify deletional β-thalassemia and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thalassemia prevention and control programme and the development of prenatal and postnatal care.
Humans ; beta-Thalassemia/complications* ; alpha-Thalassemia/complications* ; Female ; China ; Male ; Adult ; Fetal Hemoglobin/genetics* ; Adolescent ; Young Adult

The menopausal age is one of the important menopausal factors, and women of different menopausal ages have different risks of diabetes. This study reviewed the evidence from prospective studies on the association between the age at natural menopause and diabetes risk, both domestically and internationally, and presented its research design and main findings. Advanced menopause, especially premature and early menopause, will increase the risk of diabetes in postmenopausal women. The research on the influence of delayed menopause on the incidence of diabetes is still insufficient. Many factors may modify the association between menopausal age and the risk of diabetes.

Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.

Objective:To analyze the hematological characteristics of patients with three common deletional β-thalassemias (β-thal) and concomitant α-thal in Huizhou, Guangdong province.Methods:A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thal, respectively. The hematological characteristics of patients with the deletional β-thal were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)].Results:① A total of 384 cases of the three common deletional β-thal were identified, including 184 cases of Chinese Gγ + ( Aγδβ) 0, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Taiwanese, for a total detection rate of 28.76%. ② Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A 2 levels in patients with Chinese Gγ + ( Aγδβ) 0, the levels of Hb A 2 in patients with the other two deletional β-thal were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A 2 and Hb F values among the groups of the three common deletional β-thal heterozygotes ( P<0.05). ③ According to the type of gene variation, 180 patients with Chinese Gγ + ( Aγδβ) 0 heterozygotes were divided into three groups, including αα/αα, Chinese Gγ + ( Aγδβ) 0/β N (149), -α/αα, Chinese Gγ + ( Aγδβ) 0/β N (14), and --/αα, Chinese Gγ + ( Aγδβ) 0/β N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β N (150), -α/αα, SEA-HPFH/β N (12), and --/αα, SEA-HPFH/β N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ + ( Aγδβ) 0 combined with α 0-thal group were significantly lower than those of the Chinese Gγ + ( Aγδβ) 0 combined with α + -thal group and the control group ( P<0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α 0-thal group were significantly lower than those of the SEA-HPFH combined with α + -thal group and the control group ( P<0.05). Conclusion:The above research results can not only enhance the ability of clinicians to identify deletional β-thal and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thal prevention and control programme and the development of prenatal and postnatal care.

The menopausal age is one of the important menopausal factors, and women of different menopausal ages have different risks of diabetes. This study reviewed the evidence from prospective studies on the association between the age at natural menopause and diabetes risk, both domestically and internationally, and presented its research design and main findings. Advanced menopause, especially premature and early menopause, will increase the risk of diabetes in postmenopausal women. The research on the influence of delayed menopause on the incidence of diabetes is still insufficient. Many factors may modify the association between menopausal age and the risk of diabetes.

Objective To observe the correlation between cortical thickness and pathological deposition of β-amyloid(Aβ)in patients with Alzheimer disease(AD)induced mild cognitive impairment(MCI)or dementia.Methods Totally 22 AD patients were prospectively enrolled and divided into dementia group(n=12)and MCI group(n=10)based on the degree of cognitive impairment,while 17 healthy individuals without cognitive impairment were recruited as control group.MR examination and 18F-florbutaben(18F-FBB)PET imaging were performed,the cortical thickness and Aβ deposition value(Centiloid[CL]value)were calculated and compared among 3 groups and between each 2 groups,then the correlation between the above two indexes was analyzed.Results The cortical thickness in dementia group,MCI group and control group was(2.18±0.14),(2.35±0.08)and(2.36±0.09)mm,respectively,with significant difference among 3 groups(P＜0.05).The cortical thickness in dementia group was significantly thinner than that in MCI group and control group(both P＜0.05).CL value in dementia group,MCI group and control group was 77.97(63.07,95.55),65.51(54.54,90.50)and-1.17(-9.66,4.88),respectively,with significant difference among 3 groups(P＜0.05).CL value in dementia group and MCI group were significantly higher than in control group(both P＜0.05).The cortical thickness was moderately negatively correlated with CL value in MCI group(r=-0.580,P=0.048)but not in the other 2 groups(both P＞0.05).Conclusion The cortical thickness was moderately negatively correlated with abnormal deposition of Aβ in patients with AD induced MCI,but was not during dementia.

Objective:To explore the carrier rate and the genetic distribution characteristics of spinal muscular atrophy(SMA)pathogenic genes in Huizhou,and analyze the prenatal diagnosis results of fetuses from couples who are both carriers,in order to provide scientific reference for genetic counseling and prenatal diagnosis.Meth-ods:13472 peripheral blood samples were collected for the survival motor neuron gene 1(SMN1)testing at Huizhou First Maternal and Child Health Care Hospital from August 2021 to October 2024.And prenatal diagnosis was conducted on high-risk pregnant couple who were both carriers of SMA pathogenic genes.Fluorescence quantitative polymerase chain reaction(PCR)was used to detect the copy numbers of SMN1 exon 7 and 8(E7,E8),screen for SMA pathogenic gene carriers,and calculate the carrier rate.For samples identified as homozy-gous deletions and prenatal diagnosis samples,further validation of copy number variations in E7 and E8 of the SMN1 gene was performed using multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among the 13472 screened individuals,268 carriers of the SMA pathogenic gene were detected,with a carrier rate of approximately 1/50(1.99％,268/13472).Among them,there were 251 cases of E7 and E8 heterozygous dele-tion,3 cases of E7 heterozygous deletion and E8 homozygous deletion,and 14 cases of pure E7 heterozygous de-letion;2 cases of E7 and E8 homozygous deletion were detected.One case had obvious motor developmental dis-orders in the child,and the other case had a normal phenotype in the pregnant woman.Among 20 couples who were both SMA carriers,17 pregnant women underwent prenatal diagnosis.The results showed that 4 cases were normal E7 and E8 types,7 cases were E7 and E8 heterozygous deletion types,all of whom continued to conceive.6 cases were E7 and E8 homozygous deletion type,namely SMA patients,and the pregnancy was terminated by pregnant women.Conclusions:This study reports the carrier rate of SMA pathogenic genes in the population of Huizhou for the first time,and the combined use of MLPA for prenatal diagnosis of high-risk couples can effective-ly prevent the birth of SMA children,which is of great significance for the prevention and control of SMA birth de-fects.