[Application value of folate receptor-positive circulating tumor cells in the diagnosis of head and neck squamous cell carcinoma].

A total of 82 patients and healthy subjects in the First Affiliated Hospital of Sun Yat-sen University from March to August 2023 were recruited. The cohort consisted of 43 patients with head and neck squamous cell carcinoma (HNSCC) and 39 non-cancer patients or healthy subjects. There were 63 males and 19 females, with a median age of 62 (46, 67) years. The levels of folate receptor-positive circulating tumor cells (FR+CTCs) in the blood of HNSCC patients and non-cancer/healthy subjects were 12.4 (8.5, 17.8) floate unit (FU)/3 ml and 5.0 (3.8, 6.6) FU/3 ml, respectively, with a statistically significant difference (P<0.001). The area under the receiver operating characteristic (ROC) curve for FR+CTCs levels was 0.937 (95%CI: 0.888-0.986, P<0.001), with a cut-off value of 7.4 FU/3 ml determined by the maximum Youden index. At this cut-off value, the sensitivity and specificity of FR+CTCs for diagnosing HNSCC were 90.70% and 89.74%, respectively. The current study suggests that FR+CTCs could be used as a liquid biopsy marker for the screening and diagnosis of HNSCC.

[Recommendations for the diagnosis and treatment of rheumatic diseases-related hemophagocytic syndrome in China].

Hemophagocytic syndrome (HPS), which is currently named as hemophagocytic lymphohistiocytosis (HLH), is a hyperinflammatory syndrome characterized by persistent fever, hepatosplenomegaly, pancytopenia and hemophagocytosis found in bone marrow, liver, spleen and lymph nodes due to excessive activation of macrophages and cytotoxic T cells. Macrophage activation syndrome (MAS) is a specific form of HLH induced by autoinflammatory/autoimmune disorders which can be life-threatening and requires multiple disciplines. In order to improve clinicians' understanding of MAS and standardize the clinical diagnosis and treatment practice of MAS, the rheumatology branch of Chinese Rheumatology Association organized domestic experts to formulate the diagnosis and treatment standard, in order to improve the diagnosis and treatment level of MAS and improve the prognosis of patients.

Effect of Curcumin on Cognitive Behavior and Pathological Characteristics of the Hippocampus in Mice with Inherent Alzheimer's Disease.

This study examined the effect of curcumin on pathological manifestations and clearance of amyloid ß peptide (Aß) in the hippocampus of 8-month-old transgenic APP/PS1 mice with inherent Alzheimer's disease. APP/PS1 mice and the age-matched wild-type controls were subjected to 3 behavioral tests: open field, new object recognition, and Morris water maze. Expression of Aß, APP, CTF, BACE1, IDE, NEP, and LRP1 proteins in the extracted hippocampal tissue was evaluated by Western blotting. The distribution and the quantity of amyloid plaques and the spread of microglia in the hippocampus were determined by immunofluorescence. The contents of Aß40 and Aß42 in the hippocampus were assayed and analyzed on Simoa HD-1 analyzer. The proteins interacting with Aß in the hippocampus of APP/PS1 mice were detected by co-immunoprecipitation. Curcumin significantly reduced motor hyperactivity in the open-field test, improved short-term recognition memory, spatial learning, and reference memory in APP/PS1 mice. In the hippocampus of APP/PS1 mice, curcumin significantly diminished the elevated Aß levels and inhibited microglia proliferation. At the same time, curcumin had no effect on Aß production, extracellular enzymatic hydrolysis, and LRP1-mediated outward transport, but enhanced Aß clearance by activation of the intracellular ubiquitin-proteasome system and related peripheral mechanisms. Thus, curcumin improves the learning and memory abilities of APP/PS1 mice and reduces the pathological accumulation of Aß in the brain.

[Correlation between serum CCL20 level and disease severity in patients with rheumatoid arthritis].

Objective: To investigate the correlation between serum CCL20 level and disease severity in patients with rheumatoid arthritis (RA). Methods: From July 2018 to July 2019, a cross-sectional study was conducted in the Department of Rheumatology and Immunology, the Third Affiliated Hospital of Southern Medical University. The observation group consisted of 105 outpatients and inpatients diagnosed with RA, while the control group was 90 healthy people with age and gender matched physical examination in the Third Affiliated Hospital of Southern Medical University. According to Steinbroker classification, RA patients were divided into Steinbroker grade 2 group (n=35), Steinbroker grade 3 group (n=38) and steinbroker grade 4 group (n=32); according to DAS28 score, RA patients were divided into remission group (DAS28<2.6)(n=39), mild active group (DAS28 2.6-3.2)(n=25), moderate active stage group (DAS28 3.2-5.1)(n=20) and severe active stage group (DAS28 ≥ 5.1)(n=21). The levels of chemokine ligand 20 (CCL20), erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were detected by ELISA. The levels of CCL20 in each group were compared, and the correlation between CCL20 and other indicators was analyzed. The receiver operating characteristic (ROC) curve of CCL20 in diagnosis of RA was analyzed to explore the correlation between CCL20 and disease severity of RA patients. Results: Compared with the normal control group, the serum CCL20 level in RA patients was significantly increased [(48.1±16.7) pg/ml vs (17.6±5.9) pg/ml, t=19.39, P<0.001]. In addition, serum CCL20 in steinbroker grade 4 group was significantly higher than that in Steinbroker grade 3 group [(59.5±10.1) pg/ml vs (47.4±17.5) pg/ml, t=3.472, P<0.001], and the serum CCL20 level in steinbroker grade 3 group was significantly higher than that in steinbroker grade 2 group [(47.4±17.5) pg/ml vs (38.4±14.6) pg/ml, t=2.370, P<0.001], CCL20 level in steinbroker grade 2 group was significantly higher than that in normal control group [(38.4±14.6) pg/ml vs (17.6±5.9) pg/ml, t=7.738, P<0.001]. In addition, serum CCL20 level was significantly positively correlated with steinbroker score (r=0.505, P<0.001); CCL20 level in active RA patients was significantly higher than that in remission RA patients [(57.2±13.2) pg/ml vs (32.7±8.9) pg/ml, t=10.31, P<0.001]. The serum CCL20 level in severe activity group was significantly higher than that in moderate activity group [(60.6±10.9) pg/ml vs (51.7±16.2) pg/ml, t=0.212, P=0.040], and the serum CCL20 level in moderate activity group was significantly higher than that in mild activity group [(51.7±16.2) pg/ml vs (40.5±18.6) pg/ml, t=0.217, P=0.037]. In addition, there was a significant positive correlation between serum CCL20 level and DAS28 score (r=0.451, P<0.001). In addition, serum CCL20 level was positively correlated with serum CRP (r=0.332, P<0.001). According to the ROC curve, the specificity of steinbroker grade 2 group was 0.53, and the sensitivity was 0.74, AUC was 0.659; the sensitivity of steinbroker grade 3 group was 0.78, and the specificity was 0.69, AUC was 0.734; the sensitivity of mild vs medium stage was 0.64, and the specificity was 0.70, AUC was 0.699; the sensitivity of medium stage vs severe stage was 0.57, and the specificity was 0.68,AUC was 0.678. Conclusion: Serum CCL20 level in RA patients is significantly increased and positively correlated with disease severity, which may be used as a marker to observe and evaluate the progression of RA.

[Associations of impaired glucose metabolism with chronic peridontitis in pre-diabetes patients].

OBJECTIVE: To investigate the associations of impaired glucose metabolism and insulin resistance with chronic periodontitis in pre-diabetes patients. METHODS: A cross-sectional analysis was conducted and we included a total of 171 pre-diabetes patients aged 30-65 years, free of diabetes. pre-diabetes was defined as impaired fasting glucose (IFG) [fasting glucose (FG): 6.1-7.0 mmol/L] and/or impaired glucose tolerance (IGT) [oral glucose tolerance test (OGTT): 7.8-11.0 mmol/L]. Chronic periodontitis was defined according to Centers for Disease Control and Prevention (CDC)/American Academy of Periodontology (AAP) definition and the patients were divided into mild, moderate, and severe chronic periodontitis groups [mild: at least two interproximal sites with clinical attachment loss (CAL) ≥3 mm and at least two interproxima sites with probing depth (PD) ≥4 mm or 1 site with PD≥5 mm; moderate: at least two interproximal sites with CAL ≥4 mm and at least two interproxima sites with at least two interproximal sites with PD ≥5 mm; severe: at least two interproximal sites with CAL ≥6 mm and at least one interproxima site with at least two interproximal sites with PD≥5 mm]. A periodontal examination indexes [plaque index (PLI), PD, CAL, and bleeding on probing (BOP)] and glucose metabolism indexes [FG, OGTT, hemoglobinA1c (HbA1c), fasting insulin and homeostasis model assessments of insulin resistance (HOMA-IR)] were measured. The association of glucose metabolism and chronic periodontitis was investigated by multivariable logistic regression analysis. RESULTS: FG in the moderate and severe chronic periodontitis groups was significantly higher compared with mild chronic periodontitis group, HOMA-IR in the moderate and severe chronic periodontitis groups was significantly higher compared with mild chronic periodontitis group, OGTT in the severe chronic periodntitis group was significantly higher compared with mild chronic peridontitis group and moderate chronic periodontitis groups, and there was no significant difference between moderate and mild chronic periodontitis groups. For the insulin and HbA1c, there was no significant difference among mild, moderate and severe chronic periodontitis groups. After multivariable adjustment of age, gender, smoking status, hypertension and body mass index, IFG (OR=1.39, 95%CI: 1.01-1.98) and HOMA-IR (OR=1.36, 95%CI: 1.04-1.76) were associated with moderate periodontitis; IFG (OR=1.64, 95%CI: 1.17-2.40), IGT (OR=1.65, 95%CI: 1.21-2.26), and HOMA-IR (OR=1.72, 95%CI: 1.23-2.41) were significantly associated with severe periodontitis. CONCLUSION: Our data provided evidences that impaired glucose metabolism were associated with chronic periodontitis among pre-diabetes patients.

[HIV positive rate from different detection methods in medical institutions in China: a Meta analysis].

Objective: To analyze the HIV positive detection rate from different detection channels in Chinese medical institutions. Methods: A Meta-analysis was conducted. First of all, the literature on HIV testing of medical institutions in China was systematically searched on China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, VIP Information Chinese journal Service platform and PubMed. Secondly, a self-made information table was used to collect the basic information, HIV positive number and test number of the literature. Finally, R 4.0.2 software was used to calculate the pooled HIV detection rate and 95%CI of the whole population, detection approaches subgroups and regions subgroups, and then the forest map was drawn. Funnel plot was used to analyze publication bias. Results: A total of 45 studies which covered 22 provinces. Meta analysis showed that the pooled HIV positive rate was 0.82‰ (95%CI: 0.62‰-1.04‰). Subgroup analysis showed that the HIV positive rate of STD outpatient was the highest (3.01‰ (95%CI: 1.76‰-4.58‰), followed by other patients (1.43‰ (95%CI: 1.00‰-1.93‰)). The HIV positive rate of western China was the highest (1.14‰ (95%CI: 0.72‰-1.63‰)). The HIV positive rate in 2008-2017 was higher than in 2000-2007. The Egger test indicated no publication bias (t=-0.737, P=0.465). Conclusion: The HIV positive detection rate of patients in medical institutions in China was at a low level, but the positive rate of patients in STD clinics was relatively high. Therefore, the HIV testing should be further expanded in this population. Secondly, HIV screening should be strengthened for other patients.

Two sphingomyelin synthase homologues regulate body weight and sphingomyelin synthesis in female brown planthopper, N. lugens (Stål).

Although sphingomyelins known to be are lipid constituents of the plasma membrane in vertebrates, much remains obscure about the metabolism of sphingomyelins in insects. With ultra performance liquid chromatography-time-of-flight-tandem mass spectrometry analysis, we revealed for the first time that sphingomyelins are abundant in Nilaparvata lugens (Stål), the brown planthopper (BPH), and their biosynthesis is carried out by sphingomyelin synthase-like protein 2 (SMSL2), which is homologous to sphingomyelin synthase-related protein (SMSr). Unlike other insect species, high concentrations of sphingomyelins rather than ceramide phosphoethanolamines exist in the BPH. Two putative genes, which are homologous to SMSr, are named Nilaparvata lugens SMS-like 1 (NlSMSL1) and 2 (NlSMSL2). Knockdowns of both NlSMSL2 and NlSMSL1 were conducted but only the first decreased concentrations of sphingomyelins in the BPH, indicating that NlSMSL2 plays a role in the biosynthesis of sphingomyelins. Real-time quantitative PCR analysis revealed both NlSMSL1 and NlSMSL2 are highly expressed in BPH adults, with NlSMSL1 specifically highly expressed in reproductive organs (ovaries and testes) whereas NlSMSL2 was highly expressed in the malpighian tubules. The knockdown of NlSMSL1 or NlSMSL2 increased BPH female body weight but not that of males, suggesting sex-specific roles for SMSLs in influencing BPH body weight. The results suggest that NlSMSL2 catalyses the synthesis of sphingomyelins and maintains female BPH body weight through alteration of sphingolipid content.

[Efficacy and safety of Anlotinib as a third-line chemotherapy for metastatic colorectal cancer].

Objective: To evaluate the efficacy and safety of Anlotinib as a third-line therapy in patients with metastatic colorectal cancer. Methods: Anlotinib was administered to patients with advanced colorectal cancer who had received ≥ second-line standardized treatment, with 12 mg daily lasting for 2 weeks and withdrawal of drugs for a week. The relevant clinical information and treatment protocols were recorded.The efficacy and safety of anlotinib were followed up. Results: A total of 26 patients were enrolled in the study group, and 24 patients could be evaluated, including 2 cases of partial response (PR) and 16 cases of stable disease (SD).The object response rate (ORR) and disease control rate (DCR) were 8.3% and 75%, respectively. The median progression-free survival (PFS) and overall survival (OS) was 4.3 months (95% CI: 2.9-5.7 months) and 14.7 months (95% CI: 10.0-19.4 months), respectively. The most common adverse reactions were fatigue in 17 cases (17/26) and hand-foot skin reactions in 16 cases (16/26). Analysis of Kaplan-Meier revealed that without liver metastasis (95% CI: 11.7-32.3, P=0.011) and left-sided colonic cancer (95% CI: 11.7-46.1, P=0.014) were related to longer OS. Conclusion: Anlotinib as a third-line therapy for advanced colorectal cancer is feasible with high disease control rate and minor side effects.

Metabolic profiling reveals new serum biomarkers of lupus nephritis.

Metabolomics has been applied to explore altered metabolite profiles in disease and identify unique metabolic signatures specific to certain pathologies. The aim of the current study is to characterize the metabolic profile of patients diagnosed with lupus nephritis (LN) and explore new insights into underlying disease processes. A metabolomic approach using ultra-high-performance liquid chromatography coupled with high-resolution mass spectrometry (UPLC-HRMS) was developed in serum samples from 32 LN patients, 30 idiopathic nephrotic syndrome (INS) patients and 28 healthy controls (HCs). Potential biomarkers were screened from orthogonal projection to latent structures discriminate analysis (OPLS-DA) and further evaluated by receiver operating characteristic analysis (ROC). A total of 14 potential biomarkers were screened and tentatively identified for LN patients compared to HCs. Compared to HCs and INS patients, the LN patients had increased serum levels of sorbitol and glycocholic acid metabolites and decreased levels of cortisol, creatinine and L-aspartyl-L-phenylalanine. A panel of three metabolomics (theophylline, oxidized glutathione and capric acid) was identified as biomarkers of LN with a sensitivity of 87.50% and a specificity of 67.86% using ROC analysis. Our results suggest that UPLC-HRMS based quantification of circulating metabolites was a useful tool for identification of biomarkers with the ability to segregate LN patients from INS patients and HCs. The potential biomarkers indicated that the LN metabolic disturbance may be closely associated with inflammation injury, oxidative stress and phospholipid metabolism.

[Antagonistic effect of quercetin on PM2.5 toxicity in the rat's embryonic development in vitro].

OBJECTIVE: To explore the antagonistic effect of quercetin on fine particulate matter (PM2.5)-induced embryonic developmental toxicity in vitro. METHODS: PM2.5 was collected on glass fiber filters by PM2.5 samplers during the heating period of Dec. 2015 to Mar. 2016 in an area of Haidian District, Beijing City. The sampled filters were cut into 1 cm×3 cm pieces followed by sonication. The PM2.5 suspension was filtered into a 10 cm glass dish through 8 layers of sterile carbasus and stored at -80 °C until freeze drying. Frozen PM2.5 suspension was dried by vacuum freeze-drying. In vitro post-implantation whole embryo culture was used in this study. Pregnant rats with 9.5 gestation days (GD) were killed by cervical dislocation and the uteri were removed into sterile Hank's solution. The embryos with intact yolk sacs and ecto placental cones were induced by PM2.5, and then subjected to intervention of quercetin at the doses of 0.1 µmol/L, 0.5 µmol/L, 1.0 µmol/L and 5.0 µmol/L, respectively. At the end of the 48 h culture period, the cultures were terminated, and all embryos were removed from the culture bottles and placed in prewarmed Hank's solution for evaluation. Morphological evaluation of the embryos was conducted under a stereomicroscope using the morphologic scoring system by Brown and Fabro. The mitochondrial reactive oxygen species (ROS) level was detected by FACSCalibur flow cyto-metry using MitoSOXTM Red staining. RESULTS: An obvious antagonistic effect was achieved through quercetin at the dose of 1.0 µmol/L, which could result in an increase of visceral yolk sac (VYS) diameter, crown-rump length and head length, somite number, and the differentiation of visceral yolk sac vascular vessels. The scores of allantois, flexion, heart, hind brain, midbrain, forebrain, auditory system, visual system, olfactory system, branchialarch, maxillary process, forelimb bud and hindlimb bud also revealed a significant increase and the relative mitochondrial ROS level of embryonic cells was significantly decreased when compared with PM2.5 group. Although quercetin at the doses of 0.1 µmol/L, 0.5 µmol/L, 5.0 µmol/L also exhibited protective effects against PM2.5-induced embryonic developmental toxicity, the protective effect was weaker when compared with the dose of 1.0 µmol/L. CONCLUSION: Quercetin at proper dose may be of great benefit for the development of embryos exposed to PM2.5 in the uterus of the rats. Quercetin provides an effective strategy for the prevention of PM2.5-induced embryonic developmental toxicity. Clearance of mitochondrial ROS may be one of its mechanisms.

[The composition of gut microbiota in infant and its influencing factors].

Gut microbiota provide enzymes and additional biochemical metabolic pathways for the host, which together with the host genome and the external environment, influence the body function. The composition of gut microbiota in infant is closely related to health in later life. However, it is influenced by many factors, including delivery mode, feeding pattern, prenatal diet, pregnancy psychology and antepartum antibiotic treatment. Vaginal delivery and breastfeeding is beneficial for shaping gut microbiota, while cesarean section and formula feeding would reduce the amount of gut dominant bacteria. In addition, inappropriate diet during pregnancy, prenatal stress and antepartum antibiotic treatment alters bacterial colonization of the gut in infant.

Association between the 8q24 rs6983267 T/G polymorphism and prostate cancer risk: a meta-analysis.

Recent studies have indicated that single nucleotide polymorphisms (SNPs) within the 8q24 region may be a risk factor for prostate cancer (PCa). Here, we performed a meta-analysis to evaluate the association between the 8q24 rs6983267 T/G polymorphism and PCa risk. A systematic literature search was carried out in multiple electronic databases independently by two investigators. Pooled odds ratios (ORs) and 95% confidence intervals for 8q24 rs6983267 T/G and PCa were calculated using a fixed-effect model (the Mantel-Haenszel method). In total, 24 case-control studies from 19 articles were included in our meta-analysis. Our analysis indicated that there is a significant PCa risk associated with the rs6983267 polymorphism in a dominant model (GG vs GT+TT, pooled OR = 1.298, P < 0.001); recessive model (GG+GT vs TT, pooled OR = 1.302, P < 0.001); and homozygote comparison (GG vs TT, pooled OR = 1.494, P < 0.001). Similarly, in a subgroup analysis of European and Asian descent, our results revealed that there are associations between rs6983267 T/G polymorphism and PCa susceptibility with the dominant model (GG vs GT+TT), recessive model (GG+GT vs TT), and homozygote comparison (GG vs TT). To investigate the association between rs6983267 and risk of PCa under different clinical conditions, further analyses were conducted regarding different clinical characteristics including the Gleason score, tumor stage, and PSA level to provide a more comprehensive view of PCa risk and this SNP. Publication bias was assed using the Begg test and the Egger test, and none was detected.

Isolation and characterization of novel microsatellite markers from the sika deer (Cervus nippon) genome.

Microsatellite markers are widely and evenly distributed, and are highly polymorphic. Rapid and convenient detection through automated analysis means that microsatellite markers are widely used in the construction of plant and animal genetic maps, in quantitative trait loci localization, marker-assisted selection, identification of genetic relationships, and genetic diversity and phylogenetic tree construction. However, few microsatellite markers remain to be isolated. We used streptavidin magnetic beads to affinity-capture and construct a (CA)n microsatellite DNA-enriched library from sika deer. We selected sequences containing more than six repeats to design primers. Clear bands were selected, which were amplified using non-specific primers following PCR amplification to screen polymorphisms in a group of 65 unrelated sika deer. The positive clone rate reached 82.9% by constructing the enriched library, and we then selected positive clones for sequencing. There were 395 sequences with CA repeats, and the CA repeat number was 4-105. We selected sequences containing more than six repeats to design primers, of which 297 pairs were designed. We next selected clear bands and used non-specific primers to amplify following PCR amplification. In total, 245 pairs of primers were screened. We then selected 50 pairs of primers to randomly screen for polymorphisms. We detected 47 polymorphic and 3 monomorphic loci in 65 unrelated sika deer. These newly isolated and characterized microsatellite loci can be used to construct genetic maps and for lineage testing in deer. In addition, they can be used for comparative genomics between Cervidae species.

Mutation analysis of PVRL1 in patients with non-syndromic cleft of the lip and/or palate in Guangdong.

Non-syndromic cleft of the lip and/or palate (NSCLP) is a very common birth defect; the poliovirus receptor-like 1 gene (PVRL1) has been identified as a genetic risk factor for NSCLP in patients from Norway, the Philippines, and South America. Given the considerable variation in allele frequencies across these geographical regions, this study explored the relationship between NSCLP and mutations of PVRL1 in patients from Guangdong, China. We recruited 171 NSCLP patients and 100 volunteers, and divided our samples into 2 groups: a sequencing group and a mass spectrometry group. In the sequencing group, we screened for mutations in exons 2 and 5 of PVRL1 by polymerase chain reaction and direct sequencing in 71 NSCLP patients and 100 volunteers. In the mass spectrometry group, we screened for amino acid mutations in α-spliced transcript codons 112, 131, and 395, and in the ß-spliced transcript codon 1082 using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis in 100 NSCLP patients and 100 volunteers. No mutations were detected in either PVRL1 exons 2 or 5 in the 71 NSCLP patients and 100 volunteers, nor did we find mutations of α-spliced transcript codons 112, 131, 395 and the ß-spliced transcript codon 1082 in any of the 100 NSCLP patients and 100 volunteers. Thus, mutations in exons 2 and 5 of PVRL1, and T334A, A391T, G1183A in the α-spliced transcript, and G1082T in the ß-spliced transcript do not participate in the development of NSCLP in patients from Guangdong.

Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of China.

TUSC3 interacts with the protein phosphatase 1 and magnesium ion transport system, which plays an important role in learning and memory. Abnormal conditions of learning and memory are common clinical characteristics of mental retardation (MR). However, the association of TUSC3 genetic polymorphisms with MR remains unknown. A total of 456 DNA samples including 174 nuclear families containing MR were collected in the Qinba mountain area of China. The genotypes of eight tag single nucleotide polymorphisms of TUSC3 were evaluated with traditional genetic methods. Family-based association tests, transmission disequilibrium tests (TDTs), and haplotype relative risk (HRR) analyses were performed to investigate the association between genetic variants of the TUSC3 gene and MR. The genetic polymorphisms rs10093881, rs6530893, and rs6994908 were associated with MR (all P values <0.05) based upon the results of single-site TDT and HRR analyses. The haplotype block consisting of rs6530893 and rs6994908, harboring the sixth exon of TUSC3, was also associated with MR (all P values <0.05). This study demonstrated an association between genetic polymorphisms of the TUSC3 gene and MR in the Qinba mountain area, the sixth exon of which might contribute to the risk of MR. However, further studies are needed on the causal mechanisms in this association.

Genetic dissection of upland cotton (Gossypium hirsutum) cultivars developed in Hubei Province by mapped SSRs.

The genetic diversity of 51 upland cotton cultivars with different parental origins and breeding periods that were developed in Hubei Province was studied on the basis of 237 mapped simple sequence repeat markers covering the cotton genome. A total of 108 polymorphic primer pairs amplified 196 loci; the polymorphism information content range was 0.04 to 0.83, with an average of 0.46. A model-based clustering analysis (STRUCTURE) of the genomic data identified 3 clear subpopulations, and the result was confirmed by principal components analysis. The genetic similarity coefficient among 51 upland cotton cultivars was 0.598 on average, ranging from 0.378 to 0.817. The unweighted pair group method with arithmetic average cluster analysis revealed inconsistencies in other clustering patterns: "Tianmian1" was distinct from the rest of the materials and formed a separate cluster. This study will provide a guide for breeders to develop new cultivars efficiently and to choose parents, and it supports the need to introduce new alleles into the gene pool of the upland cotton breeding program in Hubei Province.

No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area.

FGD1 encoding a guanine nucleotide exchange factor, specifically activates Rho GTPase cell division cycle 42 (Cdc42). Dysfunction of FGD1 causes Aarskog-Scott syndrome (MIM #305400), an X-linked disorder that may affect bone and intellectual development. However, the relationship between FGD1 and intellectual developmental disorders (IDD) remains unclear. The purpose of this study was to investigate the genetic association between the FGD1 polymorphism and IDD. Working with families from the Qinba mountain area where the occurrence of IDD is higher than the average in China, we analyzed 456 samples from 130 nuclear families, effectively controlling for stratification and environmental factors. Five SNP loci (rs2230265, rs7881608, rs2239809, rs6614244, and rs2284710) were selected that were well distributed within the FGD1 gene. Genotyping was performed through single-strand conformation polymorphism and restriction fragment length polymorphism. The data were analyzed with transmission disequilibrium tests. In the Qinba mountain area, no significant association was observed between IDD and allele or genotype frequencies, or the haplotype of the 5 SNP loci of the FGD1 gene. The results indicate that FGD1 may not be a monogenetic X-linked factor in IDD. Further studies are required to investigate its role in intellectual development based on its specific interactions with Cdc42 or other partner proteins contributing to IDD.

[Analysis of echocardiographic features and postnatal management of fetal pulmonary valve stenosis].

Objective: To investigate the echocardiographic features, consistency of diagnosis between fetal and postnatal periods and postnatal clinical outcomes of fetal pulmonary valve stenosis (PS) with different degrees. Methods: This study was a retrospective cohort study comprising 108 cases of fetal PS diagnosed during the fetal period and followed up postnatally at Xinhua Hospital, Shanghai Jiaotong University School of Medicine from November 2012 to February 2023. Echocardiographic characteristics, including morphological and hemodynamic features were collected for all fetuses who were then were followed up to at least 6 months after birth. One-way analysis of variance and Kruskal-Wallis test were used to compare the differences in the echocardiographic features among fetuses with different degrees of PS. Subsequently, McNemar test was used to assess the consistency of diagnosis between the fetal and postnatal periods. Furthermore, Logistic regression analysis was applied to explore the risk factors for neonatal intervention in fetuses with moderate PS and the receiver operating characteristic (ROC) curve was utilized to ascertain the optimal cut-off value for continuous variables. Results: The age of the mothers of the 108 fetuses at the initial assessment was (30.8±4.0) years, and the gestational age was 26.5 (24.6, 30.0) weeks. The fetuses were categorized into mild (17 cases), moderate (49 cases), and severe groups (42 cases) based on the initial echocardiographic features. Mild PS was characterized by valve thickening and hyperechogenicity combined with systolic flow acceleration or dilation of main pulmonary artery. Moderate PS exhibited both restricted valve motion and a colorful blood flow pattern at the valve orifice. The peak flow velocities of fetuses with moderate and critical PS were notably higher than those in the mild group ((2.66±0.86) and (2.77±1.30) vs. (1.43±0.59)m/s, F=14.52, P<0.001). In critical PS, all cases showed retrograde ductal flow, with a significantly higher proportion of a small right ventricle compared to the mild and moderate PS (42.9% (18/42) vs. 0 and 2.0% (1/49), χ2=31.73, P<0.001). The proportion of severe tricuspid regurgitation was also higher (35.7% (15/42) vs. 0 and 10.2% (5/49), χ2=36.94, P<0.001). Compared to mild and severe PS, the consistency of diagnosis between fetal and postnatal periods in moderate PS was lower (40.8% (20/49) vs.13/17 and 80.3% (35/42), χ2=12.45, P=0.006). The systolic flow velocity was identified as an independent risk factor for neonatal intervention in fetuses with moderate PS (OR=7.21, 95%CI2.11-24.62). A flow velocity of ≥2.18 m/s in second trimester and ≥3.15 m/s in third trimester indicated the necessity of neonatal intervention for fetal moderate PS. Among the 108 fetuses, 68 underwent surgical intervention and all survived. Additionally, 39 fetuses were regularly followed up. A sole non-surgical fatality occurred, leading to a 6-month survival rate of 99.1% (107/108). Conclusions: Various degrees of fetal PS demonstrate distinctive morphological and hemodynamic alterations in echocardiography. The disparity in severity between the postnatal and fetal stages requires ongoing monitoring for fetal PS. The prognosis for fetal PS is generally favorable.

[Analysis of risk factors and construction of nomogram model for local lymph node metastasis in salivary gland mucoepidermoid carcinoma].

Objective: To analyze the risk factors affecting regional lymph node metastasis in salivary gland mucoepidermoid carcinoma (MEC) and to establish a nomogram model for individually predicting lymph node metastasis in salivary gland MEC. Methods: The clinical data of 2 152 patients with salivary gland MEC from 1975 to 2020 were collected from the Surveillance, Epidemiology, and End Results (SEER) database of the National Cancer Institute. The collected data were divided into training cohort (1 506 cases) and validation cohort (646 cases) according to the ratio of 7∶3. Single-factor regression and multi-factor logistic regression were used to screen factors related to local lymph node metastasis in salivary gland MEC, with constructing of a nomogram. Calibration curve, receiver operating characteristic (ROC) curve, area under the ROC curve (AUC) and decision curve analysis were used to evaluate model performance in the validation cohort and the total cohort. Statistical tests were performed using SPSS (26.0) and R (4.3.0) software. Results: Multivariate logistic regression results showed that M stage [OR(95%CI):12.360(3.295-46.365), P=0.014], pathological grade Ⅱ、Ⅲ、Ⅳ[OR(95%CI): 1.956(1.329-2.879), 9.654(6.309-14.772), 9.298(6.072-14.238), P<0.001], T staging T2, T3, T4[OR(95%CI): 1.706(0.932-3.124), 3.021(1.790-5.096), 3.311(1.925-5.695), P<0.001], and gender [OR(95%CI):0.759(0.593-0.972), P=0.029] were independent factors affecting local lymph node metastasis in salivary gland MEC. Through verification in the validation cohort and the total cohort, the AUC values were greater than 0.8, and the calibration curve was close to the perfect reference line, proving that the constructed nomogram model had good specificity and sensitivity for predicting local lymph node metastasis in salivary gland MEC. Conclusion: M stage, pathological grade, T stage, and gender are risk factors for predicting regional lymph node metastasis and the established-nomogram has good predictive performance for local lymph node metastasis in salivary gland MEC.