OBJECTIVES: According to the World Health Organization (WHO), infertility rates have been steadily rising worldwide. Identifying risk factors for contrast agent reflux into the myometrium during hysterosalpingo-contrast sonography (HyCoSy) is of clinical significance in reducing this complication and improving infertility treatment. However, there is currently no standardized pre-evaluation method for predicting intra-myometrial contrast reflux, with clinical assessment often relying on physician experience and patient symptoms. This study aims to identify imaging risk factors for contrast agent reflux into the myometrium using four-dimensional (4D) HyCoSy and to construct a nomogram-based predictive model to assist in clinical decision-making. METHODS: A retrospective analysis was conducted on 1 274 infertile women who underwent 4D HyCoSy at the Women and Children's Hospital of Hunan and the the Third Xiangya Hospital of Central South University from January 1, 2020, to December 15, 2022. Patients were divided into a reflux group (n=234) and a non-reflux group (n=1 040) based on the presence of intra-myometrial contrast reflux. Univariate and multivariable Logistic regression analyses were used to identify significant predictors, which were then used to construct a nomogram model. Internal validation was performed using 500 bootstrap resamples. RESULTS: The age of the reflux group was significantly higher than that of the non-reflux group [(31.82±5.27) years vs (30.66±4.83) years, P=0.001 1]. Primary infertility was more common in the non-reflux group (50.96%), while secondary infertility dominated in the reflux group (76.50%), with 72.65% having a history of gynecological surgery (P<0.001). Abnormal menstrual volume and discomfort during the procedure were more common in the reflux group, while the non-reflux group tolerated higher contrast agent doses (P<0.001). Imaging differences included endometrial thickness, tubal wall smoothness, and peritoneal contrast dispersion, with the non-reflux group showing thicker endometrium and smoother, more patent tubes. The nomogram model yielded an area under the curve (AUC) of 0.854, indicating good predictive performance. The AUC of the decision curve analysis (DCA) for internal validation of the model was 0.737. When the threshold probability for contrast agent reflux into the myometrium ranged from 0.05 to 0.95, the maximum net benefit reached 0.18. The net benefit of applying the nomogram predictive model exceeded that of either full intervention or no intervention, indicating that the model demonstrates good clinical predictive performance. CONCLUSIONS The nomogram model, based on infertility type, endometrial thickness, contrast agent dose, and discomfort symptoms, effectively predicts intra-myometrial contrast agent reflux after 4D HyCoSy. It provides a valuable tool for clinicians to implement early preventive measures and reduce the risk of contrast leakage and associated complications.
Humans ; Female ; Nomograms ; Contrast Media/adverse effects* ; Retrospective Studies ; Adult ; Ultrasonography/methods* ; Hysterosalpingography/methods* ; Infertility, Female/diagnostic imaging* ; Myometrium/diagnostic imaging* ; Risk Factors

Objective To explore the risk factors for retinopathy in patients with metabolic syndrome.Methods A total of 120 patients with metabolic syndrome admitted to Nanyang Central Hospital from July 2021 to July 2023 were selected as the research subjects,and the patients were categorized into the retinopathy group(n=58)and the non-retinopathy group(n=62)according to the results of fundus examination.The clinical data of patients with metabolic syndrome in both groups were collected and compared.10 mL of blood was collected from the elbow vein of patients in both groups,and the hemoglobin level was measured using a fully automatic blood cell analyzer.The levels of total cholesterol(TC),triacylglycerol(TG),high density lipoprotein-cholesterol(HDL-C),and low density lipoprotein-cholesterol(LDL-C)in the two groups were measured using an automatic biochemical analyzer.The glycosylated hemoglobin(HbA1c)level was determined by high-performance liquid chromatography.The estimated glomerular filtration rate(eGFR)was calculated using the chronic kidney disease epidemiology collaboration equation.Multivariate logistic regression analysis was used to determine the risk factors for retinopathy in patients with metabolic syndrome.Results There were no statistically significant differences in smoking history,drinking history,usage rates of hypoglycemic drugs,lipid-lowering drugs and antihypertensive drugs,systolic blood pressure,cataract,TC,TG,HDL-C,LDL-C,and eGFR between the two groups(P＞0.05).The age,disease duration,insulin usage rate,diastolic blood pressure,HbA1c level,and anemia incidence of patients in the retinopathy group were significantly higher than those in the non-retinopathy group(P＜0.05).Multivariate logistic regression analysis showed that older age,longer disease duration,insulin injection,higher diastolic blood pressure,higher HbA1c level,and lower hemoglobin level were independent risk factors for retinopathy in patients with metabolic syndrome(P＜0.05).Conclusion Old age,long disease duration,insulin injection,high systolic blood pressure,high HbA1c level,and low hemoglobin level are independent risk factors for retinopathy in patients with metabolic syndrome.

Objective To investigate the risk factors and risk prediction model of retinal detachment in patients with myopia.Methods The clinical data of myopic patients treated in our hospital from January 2021 to December 2023 were retrospectively analyzed.A total of 128 patients(128 eyes)with myopic retinal detachment who met the requirements were selected as the retinal detachment group,and 128 myopic patients(128 eyes)without retinal detachment were selected as the control group.The clinical data of patients in the two groups were collected and compared,including age,gender,di-opter,education level,affected side,whether to bear load or not,whether to vibrate or not,whether to have cataract or not,whether to have asthenopia or not,blood pressure,history of diabetes,history of ocular trauma,history of ophthal-mic surgery,and retinal thickness.Risk factors related to retinal detachment in myopia were determined through the multi-variate logistic regression analysis,and based on these factors,the risk prediction model was established.The receiver op-erating characteristic(ROC)curve was used to evaluate the predictive value of the model.Results The age,diopter,systolic blood pressure,cataract incidence,asthenopia incidence,ocular trauma and ophthalmic surgery rates of myopic patients in the retinal detachment group were significantly higher than those in the control group(all P＜0.05).The retinal thickness and choroidal thickness of myopic patients in the retinal detachment group were significantly smaller than those in the control group(both P＜0.05).The risk factors for retinal detachment in myopic patients were older age,higher diopter(absolute value),accompanied by ocular diseases or discomfort such as cataract,asthenopia and ocular trauma,thinner choroid,and thinner retina(all OR＞1,P＜0.05).The areas under the ROC curve(0.95CI)for predication of retinal de-tachment based on age,ocular disease or discomfort,diopter,choroidal thickness,and retinal thickness alone and their combination were 0.668(0.382-0.936),0.645,0.676(0.407-0.942),0.731(0.503-0.933),0.745(0.499-0.983),and 0.844(0.692-0.983),respectively.The area under the curve(0.844),sensitivity,specificity,and accuracy of the prediction model based on the combination of the five indicators were higher,indicating that this model had a better predic-tion effect.Conclusion The risk factors for retinal detachment in myopic patients are older age,higher diopter(abso-lute value),accompanied by ocular diseases or discomfort such as cataract,asthenopia and ocular trauma,thinner cho-roid,and thinner retina.The risk prediction model constructed based on these factors has a high evaluation effect.

OBJECTIVE: To explore the genetic basis for 7 families with gonadal mosaicism for Duchenne muscular dystrophy (DMD). METHODS: For the 7 families presented at the CITIC Xiangya Reproductive and Genetic Hospital from September 2014 to March 2022, clinical data were collected. Preimplantation genetic testing for monogenic disorders (PGT-M) was carried out for the mother of the proband from family 6. Peripheral venous blood samples of the probands, their mothers and other patients from the families, amniotic fluid samples from families 1 ~ 4 and biopsied cells of embryos cultured in vitro from family 6 were collected for the extraction of genomic DNA. Multiplex ligation-dependent probe amplification (MLPA) was carried out for the DMD gene, and short tandem repeat (STR)/single nucleotide polymorphism (SNP)-based haplotypes were constructed for the probands, other patients, fetuses and embryos. RESULTS: The results of MLPA showed that the probands and the fetuses/probands' brothers in families 1 ~ 4, 5, 7 had carried the same DMD gene variants, whilst the probands' mothers were all normal. The proband in family 6 carried the same DMD gene variant with only 1 embryo (9 in total) cultured in vitro, and the DMD gene of the proband's mother and the fetus obtained through the PGT-M were normal. STR-based haplotype analysis showed that the probands and the fetuses/probands' brothers in families 1 ~ 3 and 5 have inherited the same maternal X chromosome. SNP-based haplotype analysis showed that the proband from family 6 has inherited the same maternal X chromosome with only 1 embryo (9 in total) cultured in vitro. The fetuses in families 1 and 6 (via PGT-M) were both confirmed to be healthy by follow up, whilst the mothers from families 2 and 3 had chosen induced labor. CONCLUSION Haplotype analysis based on STR/SNP is an effective method for judging gonad mosaicism. Gonad mosaicisms should be suspected for women who have given births to children with DMD gene variants but with a normal peripheral blood genotype. Prenatal diagnosis and reproductive intervention may be adapted to reduce the births of further affected children in such families.
Male ; Pregnancy ; Child ; Humans ; Female ; Muscular Dystrophy, Duchenne/diagnosis* ; Dystrophin/genetics* ; Mosaicism ; Exons ; Prenatal Diagnosis/methods* ; Nucleotides

OBJECTIVE: To summarize the genetic characteristics of 671 Chinese pedigrees affected with Duchenne/Becker muscular dystrophy (DMD/BMD). METHODS: Clinical data of the pedigrees were collected. Multiplex PCR, multiple ligation dependent probe amplification (MLPA), next generation sequencing (NGS), Sanger sequencing and long read sequencing were used to detect the variant of DMD gene in the probands and their mothers, and prenatal diagnosis was provided for high risk pregnant women. RESULTS: Among 178 pedigrees analyzed by multiplex PCR, 44 variants of the DMD gene were detected, with the genetic diagnosis attained in 110 pedigrees. Among 493 pedigrees analyzed by MLPA in combination with NGS or Sanger sequencing, 294 pathogenic/possible pathogenic variants were identified, among which 45 were unreported previously, and the genetic diagnosis attained in 484 pedigrees. Structural variants of the DMD gene were identified in two pedigrees by long-read sequencing. Among 444 probands, 341 have inherited the DMD gene variant from their mothers (76.8%). Among 390 women with a high-risk, 339 have opted to have natural pregnancy and 51 chose preimplantation genetic testing for monogenetic disease (PGT-M). The detection rate of neonatal patients and carriers following natural pregnancy was significantly higher than that for PGT-M. CONCLUSION Combined application of MLPA, NGS, Sanger sequencing and long-read sequencing is an effective strategy to detect DMD/BMD. PGT-M can effectively reduce the risk of fetuses. Above finding has expanded the spectrum of DMD gene variants and provided a basis for reproductive intervention for pregnancies with a high risk for DMD/BMD.
China ; Dystrophin/genetics* ; Exons ; Female ; Genetic Testing ; Humans ; Infant, Newborn ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVES: The incidence of infertility is increasing, more than 30% of them having related abnormal tubal patency. Four-dimensional (4D) hysterosalpingo-contrast sonography (HyCoSy) overcomes the shortcomings of 3D HyCoSy in the diagnosis of tubal patency, showing high specificity and accuracy. In addition, 4D HyCoSy discards iodine allergy and X-ray radiation and possesses easy-operating, contributing to good acceptance in clinical practice. However, there is no research to explore the imaging standards related to the possibility of natural pregnancy after 4D HyCoSy. If a predictive model of postoperative natural pregnancy was established using the analysis of clinical data combined with imaging characteristics of 4D HyCoSy of patients with tubal factor infertility, clinical decision-making can be wisely guided in the future. This study aims to establish a predictive model of natural pregnancy after 4D HyCoSy based on clinical data and imaging characteristics of patients with tubal factor in fertility. METHODS: A retrospective study was conducted for patients who were diagnosed with tubal factor infertility in Hunan Guangxiu Hospital from February 2017 to May 2018. The patients ought to possess complete 4D HyCoSy imaging data and at least one-side-unobstructed fallopian tube. General clinical data and imaging data were collected. Pregnancy outcome was followed up till 3 months after 4D HyCoSy. According to pregnancy outcome, patients were divided into a pregnancy group and a non-pregnancy group. Binary logistic regression was used to analyze the correlation between various variables and natural pregnancy after 4D HyCoSy. The variables with significant difference (P<0.05) in single-factor logistic regression were included in the natural pregnancy probability prediction model. The classification accuracy was further verified with 10-fold cross-validation. RESULTS: A total of 1 085 patients with clinically suspected tubal factor infertility who met the requirements and followed the doctors' prescription were collected. Clinical characteristics (age and duration of infertility) and 4D HyCoSy imaging characteristics (thickness of endometrium from the 3rd to the 7th day after the end of menstruation, visualization of the left fallopian tube, the diffusion of contrast agent around the left ovary, and the diffusion of contrast agent around the right ovary) were independent predictors for natural pregnancy 3 months after 4D HyCoSy. A natural pregnancy probability prediction model was established with the area under the curve (AUC) verified by the 10-fold cross-validation all greater than 0.75, and the best AUC was 0.868. The Q value obtained by the prediction model was the probability of natural pregnancy, and the cutoff value was 0.5. When the Q value was greater than 0.5, it was recommended to attempt natural pregnancy for 3 months, and when the Q value was less than 0.5, in vitro fertilization was adviced. CONCLUSIONS A predictive model for the evaluating probability of natural pregnancy in women with tubal factor infertility after 4D HyCoSy is successfully established based on the analysis for clinical data and imaging characteristics. This model shows a great potential in assisting clinical decision making.
Humans ; Female ; Pregnancy ; Contrast Media ; Retrospective Studies

Objective To investigate the community structure of intestinal bacteria from patients with cirrhosis and its influencing factors. Methods From 2016 to 2017, 24 patients with liver cirrhosis ( the LC group) and 23 healthy family members of patients ( the HC group) were enrolled at the First Hospital of Lanzhou University. A comparative analysis of the community structure of intestinal bacteria was performed using 16S rRNA gene sequencing in LC and HC groups. Combined with LEfSe analysis and NMDS analysis, the differential markers were screened and the factors affecting the intestinal community structure of subjects were studied. Results The dominant six phylum of bacteria in intestines in LC and HC groups included Firmicutes, Bacteroides, Proteobacteria, Actinobacteria, Fusobacteria and Tenericumes. However, in the LC sample, Firmicutes was significantly reduced, while Bacteroides was significantly increased. The diversity of intestinal bacteria was significantly reduced, and the Firmicutes/Bacteroides ratio was significantly decreased, suggesting a variation of the community structure in intestinal bacteria of cirrhosis patients. The LEfSe result indicated that the abundance of Enterococcus, Lactobacillales, Bacilli, and Bacteroidetes showed a significant difference in the LC sample, which may be used as potential marked bacterial groups for cirrhosis. The NMDS analysis revealed a positive relationship between the concentration of Cd and Pb and the abundance of intestinal bacteria in the LC sample. Conclusion The community structure of intestinal bacteria from patients with cirrhosis has changed. Enterococcus, Lactobacillales, Bacilli, and Bacteroidetes are potential marked bacterial groups. The concentration of Cd and Pb in the intestinal tract of cirrhosis patients may interact with the abundance and structure of bacteria, and further affect the occurrence and development of cirrhosis.

Objective To evaluate the impact of the professional knowledge and skills of hospital attendants on the quality of hospital care and its training effect. Methods200 accompanists from a Class ⅢGrade A hospital in Xi'an from January 2017 to December 2018 were selected as the subjects by convenient sampling. 100 accompanists from January to December 2018 were used as observation groups to develop their professional knowledge and skills training; 100 accompanists who did not carry out professional knowledge and skills training during from January to December 2017 were the control group. The professional knowledge and skills, quality of care were compared between the two groups before and after training. ResultsThe scores of basic care, daily life care, psychological care, functional rehabilitation, cleansing care, and communication in the observation group were higher than those in the control group, and the differences between the two groups were statistically significant (P＜ 0.05). After training, the patients' health education awareness rate, complication rate, safety incident rate, and satisfaction were better than before training, and the differences were statistically significant (P＜0.05). ConclusionsDue to the limitation of professional knowledge and skill level, the comprehensive quality of hospital accompanists needs to be improved. Strengthening the training of accompanists can not only improve the comprehensive quality of the accompanists themselves, but also improve the quality of hospital care, which is beneficial to the health and rapidity of the medical care industry.

OBJECTIVETo screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation.

METHODSPeripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis.

RESULTSA heterozygous c.672_701dup30 mutation was found in the probands from the two familial cases, while three heterozygous mutations (two were novel), namely c.462_468del (p.Pro156Argfs*113), c.251T to A (p.Ile84Asn) and c.988_989insG (p.Ala330Glyfs*204) were detected in the three sporadic cases. Literature review and bioinformatic analysis indicated that all these mutations are pathogenic.

CONCLUSIONIdentification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Blepharophimosis ; diagnosis ; genetics ; China ; Female ; Forkhead Box Protein L2 ; Forkhead Transcription Factors ; genetics ; Genetic Association Studies ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Skin Abnormalities ; diagnosis ; genetics ; Urogenital Abnormalities ; diagnosis ; genetics ; Young Adult

Objective To investigate the effects of Rosa Laevigata Michx Flavoid( RLMF) and Rosa laevigata Michx Polysaccharose (RLMP) on expression of TRPV5 in IgA Nephropathy (IgAN) rat renal tissue. Methods Forty Sprague-Dawley rats were randomly assigned to four groups.The rat model of IgA nephropathy was induced by intragastric administration of bovine serumalbumin and injections of LPS and CC14.Eight weeks later,the rats with IgAN were treated with RLMF or RLMP (4 weeks), or normal saline.Rats was sacrificed at thirteenth weeks, and RNA was extracted from the kidney.Expression of TRPV5 in tubulointerstitial tissues were analyzed by fluorescent quantitative RT-PCR. Results After RFLP intervention,the expression levels of TRPV5 were markedly increased (P<0.01) than model control group,while decreased (P<0.05) than normal control group but had no significance with model control group after RFLF intervention. Conclusion TRPV5 expression is decreased in IgAN,and RLMP can adjust TRPV5 expression and improve renal function of IgAN.