Objective:To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype.Methods:A child with motor developmental delay as the initial symptom admitted to Xi ′an Children′s Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi′an Children′s Hospital (Ethics No. 20240045).Results:① The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. ② WES identified a homozygous variant in the MIDI gene, c. 1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.③ Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. Conclusion:The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c. 1483C>T(p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.

OBJECTIVE: To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype. METHODS: A child with motor developmental delay as the initial symptom admitted to Xi'an Children's Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi'an Children's Hospital (Ethics No. 20240045). RESULTS: The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. WES identified a homozygous variant in the MIDI gene, c.1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. CONCLUSION The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c.1483C>T (p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.
Humans ; Male ; Infant ; Transcription Factors/metabolism* ; Microtubule Proteins/genetics* ; Craniosynostoses/genetics* ; Hypospadias/genetics* ; Codon, Nonsense/genetics* ; RNA, Messenger/metabolism* ; Female ; RNA Stability/genetics* ; Phenotype ; Nuclear Proteins/genetics* ; Ubiquitin-Protein Ligases ; Esophagus/abnormalities* ; Hypertelorism

Objective:To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype.Methods:A child with motor developmental delay as the initial symptom admitted to Xi ′an Children′s Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi′an Children′s Hospital (Ethics No. 20240045).Results:① The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. ② WES identified a homozygous variant in the MIDI gene, c. 1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.③ Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. Conclusion:The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c. 1483C>T(p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.

Cervical cancer is the fourth most common cancer among women worldwide,and several screen-ing methods are currently available,with DNA testing for human papillomavirus(HPV)considered to be the most effective technique compared to other screening methods.However,due to the lack of organized screen-ing programs and facilities in developing countries,effective screening of cervical cancer is difficult to imple-ment,thereby delaying disease prediction and contributing to the high incidence of cervical cancer.In order to improve cervical cancer screening coverage in women,a simple,time-saving and non-invasive screening method is needed.At present,more and more evidence supports the validity and practicability of self-sampling as an al-ternative method for primary HPV screening.In this paper,we reviewed the application progress of HPV self-sampling in cervical cancer screening from three aspects:vaginal self-collection,initial urine sample self-collec-tion and menstrual blood sample self-collection.

Objective:To explore the expression levels of adrenomedullin (ADM) in follicular fluid of patients with polycystic ovary syndrome (PCOS) and its correlation with ovarian function and inflammation.Methods:To conduct a cohort study, the data on infertile couples who received an antagonistic regimen of in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) to promote ovulation from March to December 2023 at the Reproductive Medicine Center of Shanxi Children's Hospital (Shanxi Maternal and Child Health Hospital) were collected. PCOS patients were selected as the PCOS group, and patients who underwent IVF/ICSI assisted pregnancy solely due to tubal and/or male factors during the same period were selected as control group. The general clinical data of two groups of patients were analyzed, and the expression of ADM, interleukin 1β (IL-1β), IL-18, transforming growth factor β (TGF-β) in the follicular fluid were compared between the two groups of patients. And taking the concentration of ADM in follicular fluid as the main research indicator, correlation and multiple linear regression analysis were conducted with other indicators. Simultaneously the ADM mRNA expression, cell cycle and cell apoptosis of granulosa cells were compared between the two groups. Results:This study included 20 cases in the PCOS group and 20 cases in control group. Compared with control group, the expression of ADM in follicular fluid and granulosa cells of patients with PCOS were significantly lower (both P<0.001), while its testosterone, the ratio of luteinizing hormone and follicle-stimulating hormone, antral follicle count (AFC), number of retrieved eggs, ovarian sensitivity index, as well as IL-1β, IL-18 and TGF-β in follicular fluid were higher and negatively correlated with ADM ( r=-0.37, P=0.019; r=-0.32, P=0.047; r=-0.50, P<0.001; r=-0.38, P=0.017; r=-0.38, P=0.016; r=-0.44, P=0.005; r=-0.37, P=0.018; r=-0.54, P<0.001). Multiple linear regression showed that AFC, gonadotropin initiation dose, IL-1β and TGF-β were the independent related factors that affect local ADM levels ( r=-0.37, P=0.008; r=-0.27, P=0.035; r=-0.28, P=0.028; r=-0.45, P<0.001). There was no statistically significant difference in the cell cycle of granulocytes between the two groups ( P>0.05), but the apoptosis rate (AR) of granulocytes was higher in the PCOS group than in control group (median AR in the PCOS group was 46.07%, median AR in control group was 28.57%, n=10, P=0.036). Conclusion:The decreased expression of ADM in follicles of PCOS patients is related to ovarian endocrine disorders, multiple vesicles, high ovarian responsiveness and local inflammatory status.

To investigate the current situation and demand for specialized development of allergy nursing in 88 hospitals in Guangdong Province, as well as to provide evidence for the management of allergy nursing. From August to December 2023, a cross-sectional study was conducted to analyze the core managers of allergy nursing-related work in eighty-eight hospitals in Guangdong Province supported by the Allergy Nursing Branch of the Guangdong Nurses Association and the Nursing Group of the Allergy Branch of the Guangdong Medical Association. An online survey was conducted using the Delphi method to compile a questionnaire on the current status and demand for specialized development of allergy nursing in Guangdong Province. Chi-square tests and Fisher′s exact probability method were used to analyze the differences in the current status of specialty technology applications and the development and demand of specialized nursing between hospitals with or without allergy specialty departments. The results showed that among the eighty-eight hospitals in the nineteen prefecture-level cities surveyed in Guangdong Province, 17 hospitals (19%) had established allergy specialty departments, all of which were top-tier tertiary hospitals. The establishment duration [ M ( Q1, Q3)] was 3 (1, 10) years. The implementation rates of skin prick test (94%, 16/17), in-vitro examination (82%, 14/17), nasal endoscopy (82%, 14/17), subcutaneous specific immunotherapy (82%, 14/17), multidisciplinary consultation (65%, 11/17), fractional exhaled nitric oxide detection (47%, 8/17), skin patch test (41%, 7/17), and autologous serum skin test (35%, 6/17) in hospitals with allergy department were higher than those in hospitals without allergy department [59%, 42/71 ( χ 2= 7.462, P=0.006)], [54%, 38/71 ( χ 2= 4.717, P=0.030)], [51%, 36/71 ( χ 2= 5.599, P=0.018)], [34%, 24/71 ( χ 2= 13.177, P<0.001)], [24%, 17/71 ( χ 2= 10.505, P=0.001)], [24%, 17/71 ( χ 2= 5.540, P=0.019)], [11%, 8/71 (Fisher′s exact test, P=0.008)], [11%, 8/71 (Fisher′s exact test, P=0.025)]. In the development plan of allergy nursing in the next two years, hospitals that had set up allergy departments had a higher proportion in adding nurses (82%, 14/17, χ 2= 13.177, P<0.001), formulating specialized nurse training plans (71%, 12/17, χ 2= 3.980, P=0.046), formulating group standards or clinical guidelines (41%, 7/17, Fisher′s exact test, P=0.046), and formulating assessment standards (53%, 9/17, Fisher′s exact test, P=0.002). The demand for all aspects of allergy specialty nursing knowledge and skills accounted for more than 50%, and it was not related to whether the hospital set up an allergy department. In conclusion, the specialized development of allergy nursing in Guangdong province is still in its early stages, and there is a great demand for improving knowledge and skills in allergy. Further standardization of specialty construction is needed, along with the training of allergic nurses, to promote the comprehensive development of allergic reaction nursing specialties from point to area.

Objective:To determine the diagnostic accuracy and prognosis of fetal congenital heart disease (CHD) detected by ultrasound at 11-13 weeks gestation.Methods:Fetuses at 11 to 13 + 6 weeks gestation in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2015 and December 2022 were prospectively collected. Standrardized ultrasound was used to examine the fetuses. For the suspected fetal CHD, the section of cardiac ultrasound was improved as far as possible, and ultrasonic results, prenatal diagnosis, pathological anatomy and pregnancy outcome were followed up. Results:A total of 539 cases of CHD were detected in 72 242 fetuses with mixed risk in the first trimester, the incidence was 0.75% (539/72 242). The incidence of CHD in the fetuses with positive soft markers was 9.20% (287/3 118), and the incidence of multiple fetal malformations was 16.22% (235/1 449). The diagnostic accordance rate of complex CHD was 97.42%. For complex CHD, the sensitivity, specificity, false positive rate and false negative rate of first-trimester ultrasound were 90.41%, 99.98%, 0.02%, 9.59%. Combined with the results of this study, the abnormal section model of complex CHD was recommended. A total of 252 cases underwent staining chromosomal microarray or gene sequencing, of which 42.46% (107/252) were positive.Conclusions:Standardized ultrasound examination has a very high detection rate for fetal CHD in the first trimester. Transverse scanning of the heart can significantly improve the display of gray scale cardiac section, and reference to the cardiac section pattern map is beneficial to the early diagnosis of fetal CHD.

Objective To investigate the relationship between the central foveal thickness(CFT),ellipsoid zone(EZ)interruption ratio and best corrected visual acuity(BCVA)in patients with idiopathic epiretinal membranes(iERM).Methods A retrospective case-control study was conducted.The cluster sampling method was used to select 336 iERM patients(500 eyes)who underwent physical examinations in 9 community hospitals of the Kailuan Group from 2014 to 2018.Among them,215 were male(64.0％)and 121 were female(36.0％),with an average age of 31-89(66.4±8.8)years.According to the gass classification,these patients were divided into three groups:gass 0 group(201 patients,305 eyes),gass 1 group(75 patients,101 eyes),and gass 2 group(60 patients,94 eyes).Pearson correlation analysis was used to evaluate the correlation between BCVA(converted to logMAR visual acuity)and gass classification,EZ interruption ratio,CFT.Results The average BCVA(logMAR)and CFT of 500 eyes were 0.45±0.28 and(337.6±101.8)μm,re-spectively,with EZ interruption in 86 eyes(17.2％).There were statistically significant differences in BCVA(logMAR)(0.62±0.29,0.48±0.23,0.26±0.32),CFT[(283.20±79.30)μm,(335.50±84.50)μm,(394.00±135.60)μm],and EZ interruption ratio(2.6％,20.8％,60.6％)among gass 0,gass 1 and gass 2 groups(all P＜0.05).Pearson correlation analysis showed that there was no correlation between age and BCVA among different groups(r2=0.021,P=0.314);BCVA was positively correlated with CFT(r2=0.531,P=0.000),EZ interruption ratio(r2=0.304,P=0.000),and gass classification(r2=0.587,P=0.000).Conclusion The EZ interruption may occur in the early stage of iERM.BCVA is correlated with CFT,EZ interruption ratio and gass classification;the incidence of EZ interruption in gass 2 iERM signifi-cantly increases.

Objective To compare the influence between self-monitoring of blood gluocose(SMBG)combined with digital diabetes management and traditional management mode on the related clinical indexes in the patients with type 2 diabetes mellitus(T2DM).Methods A total of 100 patients with T2DM treated in the endocrinology and metabolism outpatient department of this hospital from January 2022 to June 2022 and meeting the inclusion criteria of this study were successively included.They were divided into the experimental group and control group.The experimental group was managed by SMBG combined with digital diabetes man-agement mode,while the control group adopted the traditional management mode,the outpatient clinic follow up once a month.After 6 months of follow-up,fasting blood glucose,glycosylated hemoglobin(HbA1c),low density lipoprotein cholesterol(LDL-C)and urinary microalbumin/creatinine ratio(UACR)were compared between the two groups.Results The FBG,HbA1c,LDL-C,and UACR of the experimental group decreased after intervention when compared with baseline.Compared with the control group,the FBG[8.7(7.7,9.2)mmol/L vs.10.8(8.8,12.7)mmol/L,Z=-4.660,P＜0.001],HbA1c[6.3％(5.3,7.8)％vs.8.5％(7.2,10.0)％,Z=-5.130,P＜0.001],LDL-C[2.6(1.8,3.1)mmol/L vs.3.3(2.6,4.0)mmol/L,Z=-4.112,P＜0.001],UACR[16.1(3.5,46.5)mg/g vs.58.4(11.9,108.0)mg/g,Z=-2.220,P=0.026]for patients in the expriemental group after intervention were significantly decreased.Conclusion SMBG combined with digital diabetes management model can significantly improve the clinical indicators of patients.

Objective To analyze the effects of down-regulation+hormone replacement therapy(HRT)endometrial preparation regimen on the pregnancy outcomes of advanced age women(≥35 years old)undergoing frozen-thawed embryo transfer.Methods The clinical data of 329 patients with frozen-thawed em-bryo transfer in this hospital from June 2020 to June 2022 were analyzed retrospectively.Among them,149 pa-tients receiving gonadotropin-releasing hormone analogue(GnRHa)down-regulation+HRT endometrial preparation were included in the group A,and the other 180 patients with HRT endometrial preparation were included in the group B.The basic situation,endometrial transformation day situation and clinical outcome were compared between the two groups.The group A and group B were further divided into the two sub-groups according to age:group A1(35-＜40 years old,n=101),group A2(≥40 years old,n=48),group B1(35-＜40 years old,n=99)and group B2(≥40 years old,n=81).The effects of two endometrial prepara-tion regimens were compared among the different age groups.Results There were no significant differences in the age,infertility years,BMI,anti-Mullerian hormone level,as well as basal hormones levels such as estra-diol,progesterone,follicle-stimulating hormone,luteinizing hormone(LH),prolactin and testosterone between the two groups(P＞0.05).The levels of estradiol and LH on the endometrial transformation day in the group A were significantly lower than those in the group B(P＜0.05),the endometrial thickness,proportion of the patients with endometrial thickness ≥8 mm and proportion of the patients with type Ⅲ blood intima in the group A were significantly higher than those in the group B(P＜0.05).There was no significant difference in the number of transplanted embryos and the number of transplanted excellent embryos between the two groups(P＞0.05).The clinical pregnancy rate and embryo implantation rate in the group A were significantly higher than those in the group B(46.31％vs.35.56％;33.33％vs.25.18％,P＜0.05),and there was no significant difference in the early miscarriage rate between the two groups(P＞0.05).The further subgroup analysis showed that the clinical pregnancy rate and embryoimplantation rate in the group A2 were significant-ly higher than those in the group B2(35.42％vs.18.52％;21.43％vs.12.40％,P＜0.05),while there was no significant difference between the group A1 and group B1(P＞0.05).Conclusion The advanced age pa-tients undergoing frozen-thawed embryo transfer could select GnRHa down-regulation+HRT regimen to a-chieve better pregnancy outcomes,especially for those age ≥40 years old.