Epidemiology of human papillomavirus infection in women from Xiamen, China, 2013 to 2023.

Background: Cervical cancer is primarily caused by HPV infection. The epidemiology of HPV infection in specific areas is of great meaning of guide cervical cancer screening and formulating HPV vaccination strategies. Here, we evaluated the epidemiological characteristics of HPV infection in Xiamen population. Methods: In total, 159,049 cervical exfoliated cell samples collected from female outpatients in Women and Children's Hospital, School of Medicine, Xiamen between January 2013 and July 2023 were analyzed. HPV DNA detection was performed using HPV genotyping kits (Hybribio Limited Corp, China). An analysis was conducted on the prevalence of HPV infection, taking into account factors such as age, year, and multiple patterns of HPV infection. The differences in prevalence among age groups and years were compared using χ2 test. Results: The overall prevalence of any 21 HPV genotypes was 18.4%, of which the high-risk HPV (HR-HPV) positive rate was 14.6%. The age-specific prevalence of HPV infection showed a bimodal distribution, with two distinct peaks, one at <25 years (31.2%) and the other at 60-64 years (32.9%). There was a downward trend in the prevalence of HPV infection over time, decreasing from 26.2% in 2013 to 14.5% in 2021, and then increasing to 19.0% in 2023. The five most prevent HR-HPV genotypes were HPV52 (4.0%), 58 (2.6%), 16 (2.5%), 51 (1.8%), and 39 (1.7%). Among the positive cases, 76.7% were detected with only one genotype and 23.3% with multiple genotypes. The most common co-infection was HPV52 + HPV58 (0.24%), followed by HPV16 + HPV52 (0.24%), HPV52 + HPV53 (0.21%), HPV52 + HPV81 (0.21%), HPV51 + HPV52 (0.19%), HPV16 + HPV58 (0.18%), and HPV39 + HPV52 (0.17%). Conclusion: The study provided the largest scale information on the recent epidemiological characteristics of HPV infection in Xiamen, and even in Fujian Province, China, which would support making the prevention and control strategies for cervical cancer in the region.

Ruminal degradation characteristics of bagasse with different fermentation treatments in the rumen of beef cattle.

This experiment aimed to study the degradation characteristics of bagasse after three fermentation treatments in beef cattle. Bagasse 1 was treated with 0.3% lactic acid bacteria (w/w). Bagasse 2 was treated with 0.3% mixed strains (Saccharomyces cerevisiae, Aspergillus niger, Aspergillus oryzae, and lactic acid bacteria at 2:1:1:1). Bagasse 3 was treated with 0.1% cellulase and 0.1% xylanase in addition to 0.3% mixed strains of bagasse 2. The dry matter (DM), crude ash (ASH), crude protein (CP), neutral detergent fiber (NDF), and acid detergent fiber (ADF) in the bagasses were determined. Compared to the control bagasse (without the strain and enzyme treatments), three fermented bagasses showed higher DM after 4 h fermentation. The CP and ASH contents in fermented bagasse 3 were the highest, while the contents of NDF and ADF in fermented bagasse 3 were the lowest among all the groups. The effective degradability of DM, CP, NDF, and ADF was highest in fermented bagasse 3 among the evaluated bagasse feed, followed by fermented bagasse 2 > fermented bagasse 1 > bagasse. Overall, fermented bagasse 3 was better than the control and other treated bagasses, thus fermented bagasse 3 is a hopeful source for ruminant diet of beef cattle.

Effects of replacing hybrid giant napier with sugarcane bagasse and fermented sugarcane bagasse on growth performance, nutrient digestibility, rumen fermentation characteristics, and rumen microorganisms of Simmental crossbred cattle.

This study investigated the effects of replacing hybrid giant napiers with sugarcane bagasse and fermented sugarcane bagasse on the growth performance, apparent nutrient digestibility, rumen fermentation characteristics, and rumen microorganisms of Simmental crossbred cattle. Twenty-one Simmental crossbred cattle with similar initial body weight (363.42 ± 8.67 kg) were randomly divided into three groups: Group CON (20% hybrid giant napier +45% distillers grains +35% concentrate mixture), Group SB (20% sugarcane bagasse +45% distillers grains +35% concentrate mixture), and Group FSB (20% fermented sugarcane bagasse +45% distillers grains +35% concentrate mixture). The average daily weight gain in the SB group was lower than in the CON group, no significant difference was found between the CON and FSB groups. The feed conversion ratio of the CON and FSB groups was lower compared to the SB group. The apparent digestibility of neutral detergent fiber and acid detergent fiber in the SB group was lower than in the CON group, no significant difference was found between the CON and FSB groups. The levels of NH3-N, microbial protein, acetate, propionate, butyrate, isobutyrate, and total volatile fatty acids were higher in the CON and FSB groups than in the SB group, no significant difference was found between the CON and FSB groups. The relative abundances of Christensenellaceae_R-7_group, Rikenellaceae_RC9_gut_group, Prevotellaceae_UCG-003, Saccharofermentans, and Eubacteriumcoprostanoligenes_group were lower in the CON and FSB groups compared to the SB group. The relative abundance of Succiniclasticum was highest in the FSB group, followed by the CON group and then the SB group. Correlation analysis showed that the relative abundance of Succiniclasticum was positively correlated with propionate and NH3-N content, while the relative abundance of Rikenellaceae_RC9_gut_group was inversely correlated with NH3-N content. Gene function prediction indicated that fermented sugarcane bagasse promoted rumen microbial amino acid metabolism. In conclusion, replacing hybrid giant napiers with 20% sugarcane bagasse negatively affected the growth performance of Simmental crossbred cattle, while the addition of 20% fermented sugarcane bagasse had no adverse effects on growth performance and rumen fermentation characteristics, and did not alter the abundance of the rumen core flora in Simmental crossbred cattle.

A retrospective study on the physical growth of twins in the first year after birth.

Objectives: This study analyzed the physical growth of small for gestational age (SGA) and appropriate for gestational age (AGA) twins up to one year after birth. Methods: Weight, length, and head circumference data of 0-1 year-old twins were collected from the Child Health Care System from 2010 to 2019. Physical data were presented as Z-scores. Five parameters - growth level of weight, body length, head circumference, growth velocity, and body proportion (weight for length) were compared in twins. Results: A total of 3,909 cases were collected (22.61% SGA, 77.39% AGA). 1. In both groups, WAZ (Weight for age z-score), HCZ (Head circumference for age z-score), and LAZ (Length for age z-score) increased more rapidly in the first 6 months. By one year of age, WAZ, HCZ, and LAZ had reached the normal range, but none had reached the average level of normal singleton children. 2. The mean values of WAZ, HCZ, and LAZ in the AGA group were between -1 and 0, and between -2 and - 1 in the SGA group, in the first year after birth. The SGA group lagged significantly behind the AGA group. The LAZ score of SGA and AGA was lower than the WAZ and HCZ scores. 3. The proportion of preterm AGA was the largest in twins, and the growth rate of preterm AGA was the fastest. Preterm twins had greater growth potential than term twins. However, the growth level of preterm SGA was always low. 4. The WFLZ (Weight for length z-score) in each group was approximately close to 0. The WFLZ of SGA was smaller than that of AGA twins at most time points. After 4 months of age, the WFLZ of twins had a downward trend. The WFLZ of preterm SGA approached -1 at approximately 1 year old. Conclusion: The physical growth of SGA and AGA in twins in the first year can reach the normal range but cannot reach the average level of normal singleton children. More attention should be paid to SGA in twins, especially preterm SGA. We should give proper nutritional guidance after 4 months of age to ensure the appropriate body proportion (weight for length) of SGA in twins. Clinical trial registration: www.chictr.org.cn, CTR2000034761.

Prevalence and genotype distribution of HPV infection among women in Xiamen, China.

Objective: This study aimed to evaluate the prevalence of HPV and genotype distribution among female populations in Xiamen, Fujian Province, China, which can be conducive for local governments to formulate cervical cancer screening and HPV vaccine strategies. Methods: Cervical swabs were collected from 47,926 participants aged 16-92 years at the Women and Children's Hospital, Xiamen University, from November 2019 to June 2020. HPV DNA was extracted and detected using conventional PCR, followed by HPV subtype-specific hybridisation. HPV infection rates based on different groups were compared using the χ2 test. HPV prevalence and the corresponding 95% confidence intervals (95% CI) were calculated using SPSS 19.0. Results: The overall HPV prevalence among the 47,926 cervical swabs that were analysed was 15.13%, of which single, double, and multiple infections accounted for 76.83, 16.70 and 6.47%, respectively. The age-specific prevalence of HPV infection presented a "U" curve with a HPV prevalence peak observed in women aged <20 years. The gynaecology clinic group had significantly higher HPV positive rates than the health examination group (p < 0.001). The five most common HR-HPV subtypes in Xiamen were HPV52, 58, 16, 51, and 39 (2.69, 1.63, 1.23, 1.05, and 0.98%, respectively). The five most common LR-HPV subtypes were HPV54, 61, 81, 70, 34, and 84 (0.92, 0.86, 0.71, 0.45 and 0.35%, respectively). Conclusion: Our findings demonstrate that the 9-valent HPV vaccine is recommended for regular immunisation in Xiamen. It is necessary for elderly women to participate in HPV screening to decrease the morbidity and mortality of cervical cancer.

Migration risk of fall armyworm (Spodoptera frugiperda) from North Africa to Southern Europe.

With the development of globalization and agriculture trade, as well as its own strong migratory capacity, fall armyworm (FAW) (Spodoptera frugiperda) (J.E. Smith) has invaded more than 70 countries, posing a serious threat to the production of major crops in these areas. FAW has now also been detected in Egypt in North Africa, putting Europe, which is separated from it only by the Mediterranean Sea, at high risk of invasion. Therefore, this study integrated multiple factors of insect source, host plant, and environment to provide a risk analysis of the potential trajectories and time periods of migration of FAW into Europe in 2016~2022. First, the CLIMEX model was used to predict the annual and seasonal suitable distribution of FAW. The HYSPLIT numerical trajectory model was then used to simulate the possibility of the FAW invasion of Europe through wind-driven dispersal. The results showed that the risk of FAW invasion between years was highly consistent (P<0.001). Coastal areas were most suitable for the expansion of the FAW, and Spain and Italy had the highest risk of invasion, with 39.08% and 32.20% of effective landing points respectively. Dynamic migration prediction based on spatio-temporal data can enable early warning of FAW, which is important for joint multinational pest management and crop protection.

An AIE mechanism-based fluorescent probe for relay recognition of HSO3-/H2O2 and its application in food detection and bioimaging.

In view of the important physiological role of HSO3- and H2O2, it is of great significance to develop fluorescent probes to detect HSO3- and H2O2 in aqueous medium. We herein report a new fluorescent probe (E)-3-(2-(4-(1,2,2-triphenylvinyl)styryl)benzo [d]thiazol-3-ium-3-yl)propane-1-sulfonate (TPE-y) possessing benzothiazolium salt based on tetraphenylethene (TPE) moiety with aggregation-induced emission (AIE) characteristics. TPE-y can sequentially recognize HSO3- and H2O2 through colorimetric and fluorescence dual-channel response in HEPES (pH = 7.4, 1% DMSO) buffer solution, and exhibits high sensitivity and selectivity, a large Stokes shift (189 nm), as well as a wide applicable pH range. The detection limits of TPE-y and TPE-y-HSO3 for HSO3- and H2O2 are 3.52 µM and 0.15 µM, respectively. The recognition mechanism is verified by 1H NMR and HRMS methods. Furthermore, TPE-y can detect HSO3- in sugar samples, and can image exogenous HSO3- and H2O2 in living MCF-7 cells. TPE-y can relay detect HSO3- and H2O2, which is of great significance to maintain the redox balance in organisms.

Chlamydia psittaci inclusion membrane protein CPSIT_0842 induces macrophage apoptosis through MAPK/ERK-mediated autophagy.

Chlamydia psittaci is a multi-host zoonotic pathogen, which mainly infects poultry and inflicts an appreciable economic burden on the livestock farming industry. C. psittaci inclusion membrane proteins are uniquely positioned at the host-pathogen interface and are important virulence proteins. We have previously confirmed that Incs regulate host cell survival to help Chlamydia sp. evade host-cell-mediated defense mechanisms. However, the role of the Inc, CPSIT_0842, in the regulation of cell death following the establishment of persistent C. psittaci infection remains unknown. This study explored the effect of CPSIT_0842 on the crosstalk between the autophagic and apoptotic pathways in macrophages. Results showed that CPSIT_0842 initiated autophagy and blocked autophagic flux in human macrophages, as indicated by autophagy-related protein LC3-II, Beclin-1, and p62 upregulation, autophagosome accumulation, and lysosomal protein LAMP1 diminution. We also showed that the disruption of autophagic flux had a regulatory effect on CPSIT_0842-induced apoptosis. Moreover, the suppression of autophagy initiation by 3-methyladenine attenuated CPSIT_0842-induced apoptosis. By contrast, the induction of autophagic flux by rapamycin did not significantly affect CPSIT_0842-induced apoptosis. Taken together, these findings demonstrate that CPSIT_0842 induced macrophage apoptosis by initiating incomplete autophagy through the MAPK/ERK/mTOR signaling pathway, which may be instrumental to the ability of C. psittaci to evade the host innate immune response and establish persistent infection. The improved understanding of the autophagic and cell death pathways triggered upon bacterial inclusion will likely help in the development of novel treatment strategies for chlamydia infection.

Dissolution thermodynamics and preferential solvation of genistein in some (ethanol + water) mixtures at different temperatures.

The solubility of genistein was measured in the binary system of ethanol and water at temperatures ranging from 288.2 to 328.2 K. The obtained data were correlated with the modified Apelblat model, Yalkowsky model, λh model, CNIBS/R-K model, Jouyban-Acree-van't Hoff model, and modified Wilson model and their prediction accuracy was evaluated by calculating the mean relative deviation. The thermodynamic functions, Gibbs energy, enthalpy, and entropy of solution were determined using van't Hoff equation. Moreover, the preferential solvation was analyzed by using the solubility data at 298.2 K. The solubility of genistein in the system increased with an increase in temperature and mole fraction of ethanol in the solvent mixtures. The values for solubility of genistein are ranging from 0.47 obtained in neat water at T = 288.2 K to 5.02 obtained in absolute ethanol at T = 328.2 K. The values of ΔsolnG,0 ΔsolnH0 and ΔsolnH0 for the dissolution of genistein in mixtures are positive, whereas the values of ΔsolnH0 in neat water and absolute ethanol are negative. The thermodynamic properties of dissolution suggest that the dissolution process is non-spontaneous and endergonic. The modified Apelblat model can provide more accurate predictive solubility of genistein in the water and ethanol mixtures, whereas Yalkowsky model calculates solubility of genistein with large deviations. Genistein is preferentially solvated by water in water-rich mixtures (0 < x2 < 0.24) but preferential solvation by ethanol in the region of 0.24 < x2 < 1. Overall, this work could be applied for designing and optimizing the extraction, purification, and crystallization process of genistein.

Corrigendum: Mutations in FIGLA associated with premature ovarian insufficiency in a Chinese population.

[This corrects the article DOI: 10.3389/fmed.2021.714306.].

Speciation and bioaccessibility of arsenic in rice under different cooking methods and its implication in risk assessment.

Numerous studies have studied the health risk assessment of human exposure to As or bioaccessible As via rice intake; however, the bioaccessibility of different As species in rice is seldom reported. In the present study, 31 rice samples were collected from markets or individual growers to investigate the speciation and bioaccessibility of As. Five different species (AsIII, AsV, DMA, MMA, and AsB) were detected in rice samples from different regions, among which AsIII accounted for the largest proportion (62.95% in average), followed by DMA and AsV. In addition, the cooking method could facilitate the release of As from rice into gastric and intestinal juice, and subsequently increase the bioaccessibility of As. The bioaccessibility of inorganic As in cooked rice ranged from 71.83 to 100%, and that of organic As ranged from 31.69 to 61.04%. Non-carcinogenic and carcinogenic risk assessment of children and adults exposure to As via rice intake considering the bioaccessibility of cooked rice was carried out. The target hazard quotient (THQ) of iAs and total As for children ranged from 0.21 to 1.61 and 0.48 to 2.26, respectively, while those for adults ranged from 0.12 to 0.88 and 0.26 to 1.23, respectively. Incremental lifetime cancer risk (ILCR) for children and adults ranged from 9.57 [Formula: see text] 10-5 to 7.25 [Formula: see text] 10-4 and 5.21 [Formula: see text] 10-5 to 3.95 [Formula: see text] 10-4, respectively. The results of risk assessment indicated that children would face a higher health risk than adults when they took the same type of rice as their staple food.

Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants.

We aimed to explore the genotypic and phenotypic characteristics of neonatal-onset inflammatory bowel disease (IBD) with combined immunodeficiency due to TTC7A mutation. We examined the clinical manifestations, imaging results, endoscopic and histological findings, interventions, and prognosis of a proband with neonatal-onset IBD and performed biochemical analyses, whole-exome sequencing (WES), and in silico analysis. Our proband developed severe early-onset diarrhea, malnutrition, electrolyte imbalance, dehydration, and recurrent infections after birth. Radiographic and ultrasonic images showed no specific manifestations. Endoscopic and histological examination revealed chronic inflammation. Immune function examination indicated immunodeficiency. WES identified compound heterozygous TTC7A mutations (c.2355+4A>G, c.643G>T) in the proband. In the expression analysis, no abnormal splicing in the TTC7A sequence was observed due to the c.2355+4A>G mutation; however, the mRNA expression was reduced. The proband's condition did not improve after treatment with methylprednisolone or leflunomide. The proband died when treatment was stopped at the age of 5 months and 19 days. Compound heterozygous mutations (c.2355+4A>G, c.643G>T) in the TTC7A gene are described and verified for the first time. Our report expands the phenotypic spectrum of TTC7A mutations and the genotypic spectrum of very early-onset IBD with combined immunodeficiency.

Chlamydia psittaci plasmid-encoded CPSIT_P7 induces macrophage polarization to enhance the antibacterial response through TLR4-mediated MAPK and NF-κB pathways.

Although the protective effects of Chlamydia psittaci plasmid-encoded protein CPSIT_P7 as vaccine antigens to against chlamydial infection have been confirmed in our previous study, the function and mechanism of CPSIT_P7 inducing innate immunity in the antibacterial response remain unknown. Here, we found that plasmid protein CPSIT_P7 could induce M1 macrophage polarization upregulating the genes of the surface molecule CD86, proinflammatory cytokines (TNF-α, IL-6, and IL-1ß), and antibacterial effector NO synthase 2 (iNOS). During M1 macrophage polarization, macrophages acquire phagocytic and microbicidal competence, which promotes the host antibacterial response. As we observed that CPSIT_P7-induced M1 macrophages could partially reduce the infected mice pulmonary Chlamydia psittaci load. Furthermore, CPSIT_P7 induced M1 macrophage polarization through the TLR4-mediated MAPK and NF-κB pathways. Collectively, our results highlight the effect of CPSIT_P7 on macrophage polarization and provide new insights into new prevention and treatment strategies for chlamydial infection.

A novel nitronyl nitroxide radical HPN-C6 attenuates brain damage in an acute hypobaric hypoxia mouse model through inhibition of the oxidative stress.

Hypobaric hypoxia (HH) results in the increased formation of ROS and induces a wide range of deleterious effects on the brain. Nitronyl nitroxide radicals are a kind of stable organic nitroxide radicals with a good ability to scavenge ROS. Herein, a series of new nitronyl nitroxide radicals was synthesized according to the previous method. Among them, a compound with six carbon atoms alkyl chain (HPN-C6) was screened for estimating the protective effect against HH-induced brain injury in the acute HH mouse model. The results showed that HPN-C6 ameliorated oxidative stress by decreasing the activity of LDH and the content of H2O2, NO, and MDA, increasing the activities of SOD, CAT and GSH-PX in the brain tissue of HH injured mice. Moreover, HPN-C6 exhibited an anti-inflammatory effect by reducing the level of IL-1ß, TNF-α, and IL-6 in the brains of mice after HH exposure through regulating the P38 MAPK signaling pathway. In addition, HPN-C6 exhibited the protection effect by inhibiting the release of mitochondrial cytochrome C, locking the activation of caspase-3, and downregulating the expression of Bax and upregulating the expression of Bcl-2. HPN-C6 pretreatment could inhibit the caspase-dependent mitochondria apoptosis pathway. These findings indicate that HPN-C6 is a potential therapeutic agent to prevent brain damage induced by HH.

Hydrogen sulfide as a potent scavenger of toxicant acrolein.

Acrolein (ACR) is a metabolic byproduct in vivo and a ubiquitous environmental toxicant. It is implicated in the initiation and development of many diseases through multiple mechanisms, including the induction of oxidative stress. Currently, our understanding of the body defense mechanism against ACR toxicity is still limited. Given that hydrogen sulfide (H2S) has strong antioxidative actions and it shares several properties of ACR scavenger glutathione (GSH), we, therefore, tested whether H2S could be involved in ACR detoxification. Taking advantage of two cell lines that produced different levels of endogenous H2S, we found that the severity of ACR toxicity was reversely correlated with H2S-producing ability. In further support of the role of H2S, supplementing cells with exogenous H2S increased cell resistance to ACR, whereas inhibition of endogenous H2S sensitized cells to ACR. In vivo experiments showed that inhibition of endogenous H2S with CSE inhibitor markedly increased mouse susceptibility to the toxicity of cyclophosphamide and ACR, as evidenced by the increased mortality and worsened organ injury. Further analysis revealed that H2S directly reacted with ACR. It promoted ACR clearance and prevented ACR-initiated protein carbonylation. Collectively, this study characterized H2S as a presently unrecognized endogenous scavenger of ACR and suggested that H2S can be exploited to prevent and treat ACR-associated diseases.

Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.

Premature ovarian insufficiency (POI) is a heterogeneous condition occurring when a woman experiences a loss of ovarian activity before the age of 40. POI is one of the most common reproductive endocrine diseases in women of childbearing age. The present study investigated the clinical manifestations and genetic features of a Chinese patient affected by POI. Next­generation whole­exome capture sequencing with Sanger direct sequencing were applied to the proband and her clinically unaffected family members. Two novel compound heterozygous mutations were identified in PSMC3IP. The first was a splicing mutation (c.597+1G>T) that was inherited from her father, whereas the second mutation (c.268G>C p.D90H) was discovered in both her mother and younger sister. The two mutations were co­segregated with the disease phenotype in the family. In conclusion, the findings of the present study further support the key role of PSMC3IP in the etiology of POI and provide a novel insight into elucidating the mechanisms of female infertility.

Radiogenomics of Alzheimer's disease: exploring gene related metabolic imaging markers.

Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder and considerably determined by genetic factors. Fluorodeoxyglucose positron emission tomography (FDG-PET) can reflect the functional state of glucose metabolism in the brain, and radiomic features of FDG-PET were considered as important imaging markers in AD. However, radiomic features are not highly interpretable, especially lack of explanation of underlying biological and molecular mechanisms. Therefore, this study used radiogenomics analysis to explore prognostic metabolic imaging markers by associating radiomics features and genetic data. In the study, we used the FDG-PET images and genotype data of 389 subjects (Cohort B) enrolled in the ADNI, including 109 AD, 134 healthy controls (HCs), 72 MCI non-converters (MCI-nc) and 74 MCI converters (MCI-c). Firstly, we performed a Genome-wide association study (GWAS) on the genotype data of 998 subjects (Cohort A), including 632 AD and 366 HCs after quality control (QC) steps to identify susceptibility loci as the gene features. Secondly, radiomics features were extracted from the preprocessed PET images. Thirdly, two-sample t-test, rank sum test and F-score were regarded as the feature selection step to select effective radiomic features. Fourthly, a support vector machine (SVM) was used to test the ability of the radiomic features to classify HCs, MCI and AD patients. Finally, we performed the Spearman correlation analysis on the genetic data and radiomic features. As a result, we identified rs429358 and rs2075650 as genome-wide significant signals. The radiomic approach achieved good classification abilities. Two prognostic FDG-PET radiomic features in the amygdala were proven to be correlated with the genetic data.

Use of deep learning genomics to discriminate Alzheimer's disease and healthy controls.

Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. Because gene is an important clinical risk factor resulting in AD, genomic studies, such as genome-wide association studies (GWAS), have widely been applied into AD studies. However, main shortcomings of GWAS method were that hereditary deletions were evident in the GWAS studies, which resulted in low classification or prediction abilities by using GWAS analysis. Therefore, this paper proposed a novel deep learning genomics approach and applied it to discriminate AD patients and healthy control (HC) subjects. In this study, we selected genotype data of 988 subjects enrolled in the ADNI, including 622 AD patients and 366 HC subjects. The proposed deep learning genomics (DLG) approach was composed of three steps: quality control, SNP genotype coding, and classification. The Resnet framework was used as the DLG model in this study. In the comparative GWAS analysis, APOE ε4 status and the normalized theta-value of the significant SNP loci were seen as predictors to classify genetically using Support Vector Machine (SVM). All data were divided into one training & validation group and one test group. 5-fold cross-validation was used in 500 times. Finally, we compared the classification results between DLG model and traditional GWAS analysis. As a result, the accuracy, sensitivity, and specificity of classification for traditional GWAS analysis was 71.38%±0.63%, 63.13%±2.87% and 85.59%±6.66% in the test group; while the accuracy, sensitivity, and specificity of classification for DLG model was 92.65%±4.80%, 85.00%±16.25% and 97.10%±4.38% in the test group. Hence, the DLG model can achieve higher accuracy and sensitivity when applied to AD. More importantly, we discovered several novel genetic biomarkers of AD, including rs6311 and rs6313 in HTR2A, and rs690705 in RFC3. The roles of these novel loci in AD should be explored future.

Turner syndrome with Xp deletions and rare endometrial abnormalities: A case report.

RATIONALE: Turner syndrome (TS) is a genetic disorder associated with abnormalities of the X chromosome related to ovarian function, but whether it is associated with endometrial abnormalities is still not clear. PATIENT CONCERNS: We report the case of a 26-year-old Han Chinese woman with TS and Xp11.2 deletion, presenting with short final stature, ovarian hypofunction, unexplained cystic dilatation of the entire endometrium, and endometrial thickening. DIAGNOSES: The patient was diagnosed with chromosome Xp11.2 deletion through cytogenetic analysis and ultrasonic and endometrial pathology. INTERVENTIONS: The patient was treated with conventional in vitro fertilization preimplantation genetic testing for 1 cycle. OUTCOMES: Cytogenetic examination showed karyotype 45, X, del (X) del (p11, 2). Ultrasonic examination showed uneven endometrium thickness and a full-stage cystic dilation echo. After 1 cycle of in vitro fertilization treatment, 4 eggs were obtained without forming an available embryo. LESSONS: To our knowledge, the present case is the first report of a patient with TS with Xp deletions and ultrasound imaging endometrial abnormalities. Our findings expand the phenotypic spectrum of TS and may provide a reference for other clinicians.