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Nail abnormalities in upper extremity transplantation:Perspectives and insights from systemic diseases and organ transplantation
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作者 Naga Anvesh Kodali Ramu Janarthanan +6 位作者 Zeynep Demir Bedreddin Sazoglu Omer Faruk Dirican Dmitry Tuder Fatih Zor Yalcin Kulahci Vijay S Gorantla 《World Journal of Transplantation》 2026年第1期115-128,共14页
Nail changes following upper extremity transplantation(UET)cannot be overlooked as they possess diagnostic and prognostic relevance in allotransplantation of upper limbs.This comprehensive review explores nail and nai... Nail changes following upper extremity transplantation(UET)cannot be overlooked as they possess diagnostic and prognostic relevance in allotransplantation of upper limbs.This comprehensive review explores nail and nail bed related changes encountered in UET recipients in the literature.The differential diagnosis of nail abnormalities in UET includes a wide range of systemic,local and iatrogenic conditions other than immune responses to the allograft.It requires interdisciplinary evaluation by primary transplant surgeons,pathologists,dermatologists and immunologists.The possible underlying mechanisms of nail pathology in UET and the management are discussed.It also underscores the importance of onychodystrophy and need for timely intervention and to improve outcomes in UET recipients. 展开更多
关键词 Vascularized composite allotransplantation Upper extremity transplantation Hand transplantation Nail abnormalities Onychodystrophy Graft rejection Nailfold capillaroscopy
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Silent cardiac burden:Echocardiographic abnormalities and their predictors in kidney transplant candidates and their impact on graft function
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作者 Nihal Mohammed Sadagah Muhammad Abdul Mabood Khalil +3 位作者 Hinda Hassan Khideer Mahmood Ibtisam Ali Alghamdi Ghada Abdulrahman Buridi Salem H Al-Qurashi 《World Journal of Transplantation》 2026年第1期167-181,共15页
BACKGROUND An echocardiogram is an essential tool in the evaluation of potential kidney transplant recipients(KTRs).Despite cardiac clearance,potential KTRs still have structural and functional abnormalities.Identifyi... BACKGROUND An echocardiogram is an essential tool in the evaluation of potential kidney transplant recipients(KTRs).Despite cardiac clearance,potential KTRs still have structural and functional abnormalities.Identifying the prevalence of these abnormalities and understanding their predictors is vital for optimizing pretransplant risk stratification and improving post-transplant outcomes.AIM To determine the prevalence of left ventricular hypertrophy(LVH),left ventricular systolic dysfunction(LVSD),diastolic dysfunction(DD),pulmonary hypertension(PH),and their predictors,and to assess their impact on graft function in pre-transplant candidates.METHODS The study included all successful transplant candidates older than 14 who had a baseline echocardiogram.Binary logistic regression models were constructed to identify factors associated with LVH,LVSD,DD,and PH.RESULTS Out of 259 patients,LVH was present in 64%(166),12%(31)had LVSD,27.5%(71)had DD,and 66(25.5%)had PH.Independent predictors of LVH included male gender[odds ratio(OR):2.51;95%CI:1.17-5.41 P=0.02],PH(OR=2.07;95%CI:1.11-3.86;P=0.02),DD(OR:2.47;95%CI:1.29-4.73;P=0.006),and dyslipidemia(OR=1.94;95%CI:1.07-3.53;P=0.03).Predictors for LVSD included patients with DD(OR=3.3,95%CI:1.41-7.81;P=0.006)and a family history of coronary artery disease(OR=4.50,95%CI:1.33-15.20;P=0.015).Peritoneal dialysis was an independent predictor for DD(OR=10.03;95%CI:1.71-58.94,P=0.011).The presence of LVH(OR=3.32,95%CI:1.05-10.55,P=0.04)and mild to moderate or moderate to severe mitral regurgitation(OR=4.63,95%CI:1.45-14.78,P=0.01)were significant factors associated with PH.These abnormalities had no significant impact on estimated glomerular filtration at discharge,6 months,1 year,or 2 years post-transplant.CONCLUSION Significant echocardiographic abnormalities persist in a potential transplant candidate despite cardiac clearance,although they don’t affect future graft function.Understanding the risk factors associated with these abnormalities may help clinicians address these factors pre-and post-transplant to achieve better outcomes. 展开更多
关键词 Echocardiographic abnormalities Kidney transplant PREDICTORS Graft function
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Contiguous orbital inflammation from paranasal sinus abnormalities in etiology of thyroid-associated ophthalmopathy
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作者 Xin-Xin Hao Yang-Xu Tao +2 位作者 Xiang Xu Ming-Ming Liu Yang Li 《International Journal of Ophthalmology(English edition)》 2026年第1期97-104,共8页
AIM:To define the prevalence and anatomical patterns of paranasal sinus abnormalities(PSA)in thyroid-associated ophthalmopathy(TAO)and to test the hypothesis that TAO is partially driven by contiguous orbital inflamma... AIM:To define the prevalence and anatomical patterns of paranasal sinus abnormalities(PSA)in thyroid-associated ophthalmopathy(TAO)and to test the hypothesis that TAO is partially driven by contiguous orbital inflammation rather than systemic autoimmunity or generalized orbital pressure.METHODS:Data included ophthalmic assessments and a panel of thyroid function and autoimmune biomarkers.Blinded radiological analysis of orbital computed tomography(CT)scans was performed to quantify sinus abnormalities and extraocular muscles(EOMs)involvement.Patients were categorized into two groups based on CT findings,those with no radiological evidence of sinus abnormalities(non-PSA control group)and those with identifiable PSA.Furthermore,ethmoid sinus mucosal biopsies from a subset of TAO patients and noninflammatory controls were subjected to histopathological analysis.RESULTS:Totally 121 TAO patients(mean age 42.4±12.8y,range 10-78y),male:female=42:79,were included.PSA was identified in 44.6%(n=54)of patients,with a distribution anatomically restricted to the maxillary(50.0%isolated)and ethmoid sinuses(18.5%isolated;29.6%combined).Compared to the non-PSA group(n=67),patients with PSA were significantly older(45.1±11.8 vs 40.3±13.2y;P=0.040)and were more likely to be male(55.6%vs 17.9%;P<0.001).They also had significantly higher proptosis(22.1±3.2 vs 20.7±2.9 mm;P<0.001).Medial/inferior rectus involvement was most frequent(88.4%vs 89.3%).Histopathological analysis of sinus mucosa from PSA patients provided direct evidence of pathology,revealing a dense,chronic lymphoplasmacytic infiltrate and submucosal edema,validating the radiological findings as a true inflammatory process.No significant correlation was found with systemic autoimmune markers,including thyroid-stimulating hormone(TSH)receptor antibodies(TRAb,median 4.86 vs 2.71 IU/L,P=0.104).CONCLUSION:TAO is associated with a high prevalence of PSA in a pattern consistent with the orbital anatomy.The correlation with ipsilateral muscle thickening combined with the lack of association with proptosis laterality or systemic biomarkers lend strong support to a model of contiguous inflammation over systemic autoimmunity,a hypothesis that warrants further validation through longitudinal and mechanistic studies. 展开更多
关键词 thyroid-associated ophthalmopathy paranasal sinus abnormalities PROPTOSIS orbital inflammation
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A Firefly Algorithm-Optimized CNN-BiLSTM Model for Automated Detection of Bone Cancer and Marrow Cell Abnormalities
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作者 Ishaani Priyadarshini 《Computers, Materials & Continua》 2026年第3期1510-1535,共26页
Early and accurate detection of bone cancer and marrow cell abnormalities is critical for timely intervention and improved patient outcomes.This paper proposes a novel hybrid deep learning framework that integrates a ... Early and accurate detection of bone cancer and marrow cell abnormalities is critical for timely intervention and improved patient outcomes.This paper proposes a novel hybrid deep learning framework that integrates a Convolutional Neural Network(CNN)with a Bidirectional Long Short-Term Memory(BiLSTM)architecture,optimized using the Firefly Optimization algorithm(FO).The proposed CNN-BiLSTM-FO model is tailored for structured biomedical data,capturing both local patterns and sequential dependencies in diagnostic features,while the Firefly Algorithm fine-tunes key hyperparameters to maximize predictive performance.The approach is evaluated on two benchmark biomedical datasets:one comprising diagnostic data for bone cancer detection and another for identifying marrow cell abnormalities.Experimental results demonstrate that the proposed method outperforms standard deep learning models,including CNN,LSTM,BiLSTM,and CNN-LSTM hybrids,significantly.The CNNBiLSTM-FO model achieves an accuracy of 98.55%for bone cancer detection and 96.04%for marrow abnormality classification.The paper also presents a detailed complexity analysis of the proposed algorithm and compares its performance across multiple evaluation metrics such as precision,recall,F1-score,and AUC.The results confirm the effectiveness of the firefly-based optimization strategy in improving classification accuracy and model robustness.This work introduces a scalable and accurate diagnostic solution that holds strong potential for integration into intelligent clinical decision-support systems. 展开更多
关键词 Firefly optimization algorithm(FO) marrow cell abnormalities bidirectional long short term memory(Bi-LSTM) temporal dependency modeling
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Detection of vitreoretinal interface abnormalities from OCT images based on DS-YOLOv7 network
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作者 Xin Zhou Ying Fan +6 位作者 Gaowei Li Menghan Li Weifang Zhu Dehui Xiang Xinjian Chen Xun Xu Fei Shi 《Journal of Innovative Optical Health Sciences》 2026年第2期102-115,共14页
Advances in optical coherence tomography(OCT)technology allow a clear view of the vitreoretinal interface(VRI).The abnormality of the VRI is one of the common symptoms of high myopia,mainly including posterior vitreou... Advances in optical coherence tomography(OCT)technology allow a clear view of the vitreoretinal interface(VRI).The abnormality of the VRI is one of the common symptoms of high myopia,mainly including posterior vitreous detachment(PVD)and epiretinal membrane(ERM).They can cause severe damage to the structure and function of the retina,leading to permanent vision loss.Therefore,fully automated detection of abnormalities at the VRI is crucial for the management of high myopia.This paper presents a DS-YOLOv7 network aimed at accurately identifying abnormalities,including partial PVD,complete PVD,and ERM from retinal OCT images.Built upon the YOLOv7 network,the proposed model integrates the advanced dynamic snake convolution(DSConv)module to capture the curvilinear characteristics of lesions,and the mixture of attention and convolution(ACMix)module to improve the precision and robustness of feature extraction through effective fusion of self-attention mechanisms and convolution.Moreover,the introduction of the efficient complete intersection-over-union(ECIoU)loss function further enhances the coordinate regression capability of the model.Threefold cross-validation on a dataset with 1973 OCT B-scans from 46 patients shows that the DS-YOLOv7 achieved superior performance in vitreoretinal interface abnormality detection,with mAP@0.5 of 0.714,mAP@0.75 of 0.438,and mAP@0.5:0.95 of 0.424.The proposed model can provide an accurate and efficient diagnostic tool for patients with high myopia. 展开更多
关键词 YOLOv7 dynamic snake convolution mixture of attention and convolution optical coherence tomography vitreoretinal interface abnormality
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Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets 被引量:1
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作者 Tao Liu Fazal Rahim +15 位作者 Meng-Lei Yang Meftah Uddin Jing-Wei Ye Imtiaz Ali Yousaf Raza Abu Mansoor Muhammad Shoaib Mujahid Hussain Ihsan Khan Basit Shah Asad Khan Ahmad Nisar Hui Ma Bo Xu Wasim Shah Qing-Hua Shi 《Asian Journal of Andrology》 2025年第2期245-253,共9页
Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella(MMAF).Distinct projections encircling the central microtubules of the spermatozoal axoneme play p... Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella(MMAF).Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement.Mammalian sperm-associated antigen 17(SPAG17)encodes a conserved axonemal protein of cilia and flagella,forming part of the C1a projection of the central apparatus,with functions related to ciliary/flagellar motility,skeletal growth,and male fertility.This study investigated two novel homozygous SPAG17 mutations(M1:NM_206996.2,c.829+1G>T,p.Asp212_Glu276del;and M2:c.2120del,p.Leu707*)identified in four infertile patients from two consanguineous Pakistani families.These patients displayed the MMAF phenotype confirmed by Papanicolaou staining and scanning electron microscopy assays of spermatozoa.Quantitative real-time polymerase chain reaction(PCR)of patients’spermatozoa also revealed a significant decrease in SPAG17 mRNA expression,and immunofluorescence staining showed the absence of SPAG17 protein signals along the flagella.However,no apparent ciliary-related symptoms or skeletal malformations were observed in the chest X-rays of any of the patients.Transmission electron microscopy of axoneme cross-sections from the patients showed incomplete C1a projection and a higher frequency of missing microtubule doublets 1 and 9 compared with those from fertile controls.Immunofluorescence staining and Western blot analyses of spermatogenesis-associated protein 17(SPATA17),a component of the C1a projection,and sperm-associated antigen 6(SPAG6),a marker of the spring layer,revealed disrupted expression of both proteins in the patients’spermatozoa.Altogether,these findings demonstrated that SPAG17 maintains the integrity of spermatozoal flagellar axoneme,expanding the phenotypic spectrum of SPAG17 mutations in humans. 展开更多
关键词 C1a projection central apparatus male infertility multiple morphological abnormalities of the flagella SPAG17
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Research Progress on Embryonic Zona Pellucida Abnormalities
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作者 Wang Meng Li Shaojie Yang Jinji 《Science International Innovative Medicine》 2025年第1期65-69,共5页
The zona pellucida(ZP)is a glycoprotein matrix surrounding the oocyte and early embryo,playing a crucial role in fertilization,embryonic development,and pre-implantation protection.Zona pellucida abnormalities,though ... The zona pellucida(ZP)is a glycoprotein matrix surrounding the oocyte and early embryo,playing a crucial role in fertilization,embryonic development,and pre-implantation protection.Zona pellucida abnormalities,though relatively rare,significantly impact reproductive success by affecting fertilization,embryo development,and implantation.This review systematically outlines the clinical manifestations,classification,underlying mechanisms,and therapeutic strategies related to ZP abnormalities.Studies indicate that ZP abnormalities are associated with fertilization failure,impaired embryonic development,and implantation failure.Techniques such as intracytoplasmic sperm injection(ICSI)and assisted hatching(AH),along with clinical strategies like growth hormone pretreatment and optimized ovulation induction protocols,have shown promise in improving reproductive outcomes for affected patients.Future research should focus on elucidating the molecular genetic mechanisms of ZP abnormalities and developing more precise interventions. 展开更多
关键词 Zona pellucida abnormalities fertilization failure assisted reproductive technology intracytoplasmic sperm injection AH clinical outcomes
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Skeletal abnormalities caused by a Connexin43_(R239Q)mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
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作者 Yasuyuki Fujii Iichiro Okabe +7 位作者 Ayano Hatori Shyam Kishor Sah Jitendra Kanaujiya Melanie Fisher Rachael Norris Mark Terasaki Ernst J.Reichenberger I-Ping Chen 《Bone Research》 2025年第2期370-383,共14页
Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of lo... Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones.Many patients with CMD suffer from neurological symptoms.The pathogenesis of CMD is not fully understood. 展开更多
关键词 connexin r q mutation mouse model hyperostosis craniofacial bones metaphyseal flaring craniometaphyseal dysplasia skeletal abnormalities autosomal recessive craniotubular disorderoccurs
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Propacetamol-related postoperative liver enzyme abnormalities:insights from a clinical prediction nomogram study
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作者 Shuhong Liang Haiyang Meng +4 位作者 Kai Kong Chaoying Kang Ning Liu Qianqian Yuan Jie Yang 《Journal of Chinese Pharmaceutical Sciences》 2025年第4期334-344,共11页
To investigate the correlation between propacetamol and postoperative liver enzyme abnormalities among patients,a retrospective analysis was conducted on inpatients in the thoracic surgery department spanning from Jan... To investigate the correlation between propacetamol and postoperative liver enzyme abnormalities among patients,a retrospective analysis was conducted on inpatients in the thoracic surgery department spanning from January 1 to June 30,2023.Causality assessment regarding propacetamol and postoperative liver enzyme abnormalities was performed using the updated Roussel Uclaf Causality Assessment Method(RUCAM).Furthermore,independent risk factors for liver enzyme abnormalities were identified through both univariate and multivariate analyses,followed by the construction and validation of a clinical nomogram.A total of 247 patients who received propacetamol were ultimately included in the study.Liver enzyme abnormalities post-surgery were more accurately predicted by considering the daily dose of propacetamol and the number of medications(OR(95%CI),4.831(2.797,8.344),P<0.001;10.007(3.878,25.823),P<0.001).A clinical predictive nomogram model was developed,incorporating these two independent risk factors,which exhibited favorable discrimination(AUC(95%CI),0.811(0.750,0.872)),calibration,and decision curve analysis(DCA)demonstrating the highest net benefits across a broad spectrum of threshold probabilities(10%to 90%).The daily dose of propacetamol and the number of medications were found to be independently associated with postoperative liver enzyme abnormalities.This user-friendly nomogram,comprising these two factors,might assist clinicians in assessing the risks of propacetamol-related liver dysfunction following surgery. 展开更多
关键词 Propacetamol NOMOGRAM Liver enzyme abnormalities Postoperative period Drug-induced liver injury
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The impact of myocardial injury markers and electrocardiographic abnormalities on prognosis in patients with acute ischemic stroke
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作者 CHEN Xuan LIU Shi-yang ZHOU Qin-zhi 《South China Journal of Cardiology》 2025年第4期239-248,共10页
Background Patients with acute ischemic stroke(AIS)frequently present with subclinical cardiac injury.Current clinical assessments predominantly focus on neurological deficits,while the systematic identification and r... Background Patients with acute ischemic stroke(AIS)frequently present with subclinical cardiac injury.Current clinical assessments predominantly focus on neurological deficits,while the systematic identification and risk stratification of early cardiac complications remain inadequate.Myocardial injury markers and electrocardiographic abnormalities reflect biochemical myocardial damage and electrophysiological disturbances,respectively.Their combined use may provide a more comprehensive evaluation of cardiac involvement following AIS,thereby compensating for the limitations of neurological assessment alone.However,their synergistic value in predicting the prognosis of AIS patients requires further clarification.Methods A retrospective analysis was conducted on the medical records of 204 AIS patients admitted to our hospital from July 2023 to July 2025.Based on cardiac troponin I(cTnI)and creatine kinase-MB(CK-MB)levels,as well as electrocardiographic findings within 72 hours of onset,patients were categorized into a myocardial injury group(n=87)and a non-myocardial injury group(n=117).Both groups received standardized treatment.The modified Rankin Scale(mRS)scores at 90 days post-onset and the incidence of in-hospital major adverse cardiovascular events(MACE)were compared between the groups.Independent prognostic factors were analyzed,and the predictive performance of these factors was evaluated.Results Among the 204 patients,myocardial injury markers were elevated in 42.65%(87/204)of them.The incidence of electrocardiographic abnormalities,such as ST T changes(38.24%,78/204)and arrhythmias(24.02%,49/204),was significantly higher in the injury group than in the non injury group(all P<0.05).Elevated cTnI level(OR=1.052),prolonged QTc interval(OR=1.049),and a high National Institutes of Health Stroke Scale(NIHSS)score(OR=1.458)were identified as independent risk factors for poor prognosis at 90 days(all P<0.05),whereas CK-MB level was not an independent risk factor(P>0.05).The combination of NIHSS score,cTnI,and QTc interval demonstrated an area under the curve(AUC)of 0.920,with a specificity of 96.80%and a sensitivity of 70.89%,in predicting poor prognosis.Conclusions Patients with AIS frequently exhibit concomitant myocardial injury and electrocardiographic abnormalities.Elevated cTnI levels and prolonged QTc intervals are independently associated with poor 90-day prognosis,serving as significant predictive biomarkers.Early monitoring of these indicators contributes to risk stratification and personalized management. 展开更多
关键词 Acute ischemic stroke Myocardial injury markers Electrocardiographic abnormalities PROGNOSIS TROPONIN
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Genotypic Distribution of the Human Papillomavirus among Women with Cervical Cytological Abnormalities at the Sourô SANOU University Hospital in Bobo-Dioulasso, Burkina Faso
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作者 Pierre Zabré Tani Sagna +13 位作者 Valentin Konsegre Alioun Traore Sylvie Tuina Astrid Sana Abdou Azaque Zouré Wendkuuni Florencia Djigma Isabelle Tiendrebeogo Prosper Bado Tampoubila Edwige Yelemkoure Madeleine Kabre Kadari Cisse Albert T. Yonli Henri Gautier Ouedraogo Jacques Simporé 《American Journal of Molecular Biology》 2025年第1期11-24,共14页
Cervical cancer is the fourth most common cancer worldwide, accounting for 6.8% of new cancer cases and 8.1% of cancer-related deaths. About 85% of these deaths occurred in low- and middle-income countries. The aim of... Cervical cancer is the fourth most common cancer worldwide, accounting for 6.8% of new cancer cases and 8.1% of cancer-related deaths. About 85% of these deaths occurred in low- and middle-income countries. The aim of this study was to assess the frequency and distribution of the human papillomavirus (HPV) genotypes in women showing cytological abnormalities of the cervix at the Sourô SANOU University Hospital (CHUSS) in Bobo-Dioulasso, Burkina Faso. This is a descriptive study of women recruited at the CHUSS. The cervico-uterine smear examination was carried out at the CHUSS Anatomy and Pathology Department for cervical cancer screening. The data were collected from women with atypical cells on their cervico-uterine smear. Cervicovaginal samples were taken from consenting women and HPV genotyping was performed using the HPV Direct FLOW CHIP kit at CERBA. We obtained approval from the ethics committee. The data were analyzed using the SPSS 26 software. The results of the study showed that 67.79% of the participants were aged between 50 and 65, a group that is particularly vulnerable to persistent infection with high-risk oncogenic HPV genotypes. Of the women screened, 40.7% were HPV positive and 29.2% had multiple infections. The most common genotypes were HPV 35, followed by HPV 18, 52, 58 and 66. These data highlight the need for increased surveillance and targeted prevention strategies among this female population. 展开更多
关键词 GENOTYPING Human Papillomavirus Cervical Cytological abnormalities Burkina Faso
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A novel homozygous splicing mutation in AK7 associated with multiple morphological abnormalities of the sperm flagella
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作者 Thomas Greither Holger Herlyn 《Asian Journal of Andrology》 2025年第2期276-276,共1页
Medically assisted reproduction(MAR)techniques are highly dependent on the sperm quantity and quality.Low sperm concentrations can be bypassed at least to some point by the usage of more sophisticated MAR techniques l... Medically assisted reproduction(MAR)techniques are highly dependent on the sperm quantity and quality.Low sperm concentrations can be bypassed at least to some point by the usage of more sophisticated MAR techniques like intracytoplasmic sperm injection(ICSI).Compared to this,disruptions in established indicators of sperm quality like motility or morphology pose greater challenges for the therapy of couple infertility. 展开更多
关键词 intracytoplasmic sperm injection icsi compared AK medically assisted reproduction medically assisted reproduction mar techniques sperm flagella morphological abnormalities therapy couple infertility mar techniques
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Novel bi-allelic variants in DNAH10 lead to multiple morphological abnormalities of sperm flagella and male infertility
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作者 Muhammad Shoaib Muhammad Zubair +10 位作者 Wasim Shah Meftah Uddin Ansar Hussain Ghulam Mustafa Fazal Rahim Huan Zhang Imtiaz Ali Tanveer Abbas Yousaf Raza Sui-Xing Fan Qing-Hua Shi 《Asian Journal of Andrology》 2025年第4期516-523,共8页
Multiple morphological abnormalities of sperm flagella(MMAF)is a severe form of asthenoteratozoospermia,characterized by morphological abnormalities and reduced motility of sperm,causing male infertility.Although appr... Multiple morphological abnormalities of sperm flagella(MMAF)is a severe form of asthenoteratozoospermia,characterized by morphological abnormalities and reduced motility of sperm,causing male infertility.Although approximately 60%of MMAF cases can be explained genetically,the etiology of the remaining cases is unclear.Here,we identified two novel compound heterozygous variants in the gene,dynein axonemal heavy chain 10(DNAH10),in three patients from two unrelated Pakistani families using whole-exome sequencing(WES),including one compound heterozygous mutation(DNAH10:c.9409C>A[p.P3137T];c.12946G>C[p.D4316H])in family 1 and another compound heterozygous mutation(DNAH10:c.8849G>A[p.G2950D];c.11509C>T[p.R3687W])in family 2.All the identified variants are absent or rare in public genome databases and are predicted to have deleterious effects according to multiple bioinformatic tools.Sanger sequencing revealed that these variants follow an autosomal recessive mode of inheritance.Hematoxylin and eosin(H&E)staining revealed MMAF,including sperm head abnormalities,in the patients.In addition,immunofluorescence staining revealed loss of DNAH10 protein signals along sperm flagella.These findings broaden the spectrum of DNAH10 variants and expand understanding of the genetic basis of male infertility associated with the MMAF phenotype. 展开更多
关键词 asthenoteratozoospermia DNAH10 male infertility multiple morphological abnormalities of sperm flagella
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Two-layer model for the early warning and analysis of condensate water quality abnormalities based on autoencoder and expert knowledge
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作者 Xin Wang Shengxu Jin +11 位作者 Chengwei Cai Junran Luo Xiangshuai Tan Yunfei Guo Zhao Li Jinghui Gao Xinlin He Litao Niu Yicun Lin Wei Zhao Guangjin Chen Chun Deng 《Chinese Journal of Chemical Engineering》 2025年第8期107-116,共10页
Thermal power generation systems have stringent requirements for water and steam quality,i.e.,condensate water quality is one of the critical issues.In this paper,we designed a two-layer model based on an autoencoder ... Thermal power generation systems have stringent requirements for water and steam quality,i.e.,condensate water quality is one of the critical issues.In this paper,we designed a two-layer model based on an autoencoder and expert knowledge to achieve the early warning and causal analysis of condensate water quality abnormalities.An early warning model using an autoencoder model is built based on the historical data affecting the condensate water quality.Next,an analytical model of condensate water quality abnormalities was then developed by combining expert knowledge and trend test algorithms.Two different datasets were used to test the proposed model,respectively.The accuracy of the autoencoder model in the short-period test set is 88.83%,which shows that the early warning model can accurately analyze the condensate water quality data and achieve the purpose of early warning.For the long-time period test set,the model can correctly identify each abnormality and simultaneously indicates the cause of the abnormal condensate water quality.The proposed model can correctly identify abnormal working conditions and it is applicable to other thermal power plants. 展开更多
关键词 Early warning DATA-DRIVEN Condensate water quality Abnormality detection ALGORITHM Neural network
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Structural and functional kidney abnormalities in patients with Human immunodeficiency virus infection: A cross-sectional perspective
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作者 Sivaprakash Sundaramoorthy Devarajan Radha +2 位作者 Amalraj Ravi Kotha Sugunakar Reddy Sakthivadivel Varatharajan 《World Journal of Nephrology》 2025年第3期136-143,共8页
BACKGROUND Chronic kidney disease is a progressive disease that evolves towards the deve-lopment of end-stage renal disease.The superimposition of renal impairment on a complex disease,namely human immunodeficiency vi... BACKGROUND Chronic kidney disease is a progressive disease that evolves towards the deve-lopment of end-stage renal disease.The superimposition of renal impairment on a complex disease,namely human immunodeficiency virus(HIV)infection,will raise the burden of comorbidities and,predict worse outcomes in this group of the population.AIM To evaluate the structural and functional defects of kidney in patients with HIV infection.METHODS This cross-sectional study involved 227 patients with HIV infection.Participants were selected by simple random sampling method.Eligible participants included HIV infection-positive adults aged 18 years and above.Exclusion criteria en-compassed individuals with preexisting hypertension,diabetes mellitus,chronic kidney disease,chronic liver disease,and those receiving nephrotoxic drugs.Informed consent was obtained.Data collection involved recording medical histories,conducting clinical examinations,and performing baseline blood investigations and ultrasono-graphy to assess renal function and structural abnormalities.RESULTS The mean age of participants was 41 years.Females constituted 66.5%;78% were on Tenofovir-based regimen.The mean duration of HIV infection was 5 years;mean duration of antiretroviral therapy was 4 years.67.4% had a body mass index over 25.World Health Organization staging of HIV infection revealed that 41.9%were in stage 3,30%in stage 2.35.7% had cluster differentiation 4 counts<200.The mean creatinine was 1 mg/dL and mean urea was 25.1 mg/dL.54.6%had estimated glomerular filtration rate of<60.Enlarged kidneys in 39.2%and increased echogenicity in 82.8%of participants.A decline in estimated glomerular filtration rate and an increase in kidney size was significantly associated with advancing HIV stages.CONCLUSION Both structural and functional kidney abnormalities are common in patients with HIV infection.These abnor-malities increase with disease progression,underscoring the need for regular and consistent renal monitoring. 展开更多
关键词 Chronic kidney disease Estimated glomerular filtration rate Human immunodeficiency virus Structural renal abnormalities
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Risk factors and predictive modeling of early postoperative liver function abnormalities
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作者 Lin Zhong Hao-Yuan Wang +5 位作者 Xiao-Na Li Qiong Ling Ning Hao Xiang-Yu Li Gao-Feng Zhao Min Liao 《World Journal of Hepatology》 2025年第8期233-243,共11页
BACKGROUND Research has shown that several factors can influence postoperative abnormal liver function;however,most studies on this issue have focused specifically on hepatic and cardiac surgeries,leaving limited rese... BACKGROUND Research has shown that several factors can influence postoperative abnormal liver function;however,most studies on this issue have focused specifically on hepatic and cardiac surgeries,leaving limited research on contributing factors in other types of surgeries.AIM To identify the risk factors for early postoperative abnormal liver function in multiple surgery types and construct a risk prediction model.METHODS This retrospective cohort study involved 3720 surgical patients from 5 surgical departments at Guangdong Provincial Hospital of Traditional Chinese Medicine.Patients were divided into abnormal(n=108)and normal(n=3612)groups based on liver function post-surgery.Univariate analysis and LASSO regression screened variables,followed by logistic regression to identify risk factors.A prediction model was constructed based on the variables selected via logistic re-gression.The goodness-of-fit of the model was evaluated using the Hosm-er–Lemeshow test,while discriminatory ability was measured by the area under the receiver operating characteristic curve.Calibration curves were plotted to visualize the consistency between predicted probabilities and observed outcomes.RESULTS The key factors contributing to abnormal liver function after surgery include elevated aspartate aminotransferase and alanine aminotransferase levels and reduced platelet counts pre-surgery,as well as the sevoflurane use during the procedure,among others.CONCLUSION The above factors collectively represent notable risk factors for postoperative liver function injury,and the prediction model developed based on these factors demonstrates strong predictive efficacy. 展开更多
关键词 Perioperative period Abnormal liver function Risk factor Univariate analysis Risk prediction model
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Ambulatory Blood Pressure Characteristics and Risk Factors for Circadian Rhythm Abnormalities in Elderly Patients with Hypertension
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作者 Yaqian Huang 《Journal of Clinical and Nursing Research》 2025年第3期154-160,共7页
Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patie... Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patients’blood pressure,they were divided into group A,group B,and group C,and all the data of hypertension patients in this study were collected,including age,gender,BMI,smoking,drinking,basic diseases(diabetes,cerebrovascular disease,hyperlipidemia,etc.),fasting blood glucose,ambulatory blood pressure(24-hour mean systolic pressure,24-hour mean diastolic pressure,daytime mean systolic pressure and daytime mean diastolic pressure).Results:There were significant differences in mean systolic blood pressure and mean diastolic blood pressure at night among group A,group B and group C(P<0.05).Age,hyperlipidemia and fasting blood glucose were risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium was a protective factor for circadian rhythm abnormality(P<0.05).Conclusion:Age,hyperlipidemia and fasting blood glucose are risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium is a protective factor for circadian rhythm abnormality(P<0.05). 展开更多
关键词 Elderly patients HYPERTENSION Ambulatory blood pressure Abnormal circadian rhythm
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Ambulatory Blood Pressure Characteristics and Risk Factors for Circadian Thythm Abnormalities in Elderly Patients with Hypertension
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作者 Yaqian Huang 《Journal of Clinical and Nursing Research》 2025年第2期153-159,共7页
Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patie... Objective:To analyze the characteristics of ambulatory blood pressure in elderly patients with hypertension and find out the risk factors of abnormal circadian rhythm.Methods:According to the circadian rhythm of patients'blood pressure,they were divided into Group A,Group B and Group C,and all the data of hypertension patients in this study were collected,including age,gender,BMI,smoking,drinking,basic diseases(diabetes,cerebrovascular disease,hyperlipidemia,etc.),fasting blood glucose,ambulatory blood pressure(24-hour mean systolic pressure,24-hour mean diastolic pressure,daytime mean systolic pressure and daytime mean diastolic pressure).Results:There were significant differences in mean systolic blood pressure and mean diastolic blood pressure at night among Group A,Group B and Group C(P<0.05).Age,hyperlipidemia and fasting blood glucose were risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium was a protective factor for circadian rhythm abnormality(P<0.05).Conclusion:Age,hyperlipidemia and fasting blood glucose are risk factors for circadian rhythm abnormality(P<0.05),and 24-hour urinary sodium is a protective factor for circadian rhythm abnormality(P<0.05). 展开更多
关键词 Elderly patients HYPERTENSION Ambulatory blood pressure Abnormal circadian rhythm
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伴-7/7q-染色体异常的儿童急性髓系白血病临床特征及预后分析
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作者 郑方圆 王淼 +4 位作者 丁明明 陆爱东 贾月萍 曾慧敏 张乐萍 《中国当代儿科杂志》 北大核心 2026年第1期84-89,共6页
目的 分析伴单体7(-7)和7号染色体长臂缺失(7q-)的儿童急性髓系白血病(acute myeloid leukemia, AML)的临床特征及预后相关因素。方法 回顾性分析2010年1月—2024年12月北京大学人民医院儿科收治的伴-7/7q-AML儿童的临床资料、治疗及预... 目的 分析伴单体7(-7)和7号染色体长臂缺失(7q-)的儿童急性髓系白血病(acute myeloid leukemia, AML)的临床特征及预后相关因素。方法 回顾性分析2010年1月—2024年12月北京大学人民医院儿科收治的伴-7/7q-AML儿童的临床资料、治疗及预后。结果 共收治染色体核型分析结果完整的AML儿童869例,其中伴-7/7q-染色体异常32例(3.7%);男20例,女12例;中位诊断年龄6岁。伴孤立性-7染色体异常6例(19%),伴孤立性7q-染色体异常2例(6%),伴额外染色体异常24例(75%)。诱导化疗后获得完全缓解16例(50%)。随访时死亡15例(47%),存活17例(53%),3年无病生存率为(54.1±0.1)%,3年总生存率为(52.6±0.1)%,行造血干细胞移植(hematopoietic stem cell transplantation, HSCT)为3年无病生存率(HR=0.17,95%CI:0.04~0.62,P=0.008)及总生存率(HR=0.16,95%CI:0.04~0.59,P=0.006)的独立影响因素,行HSCT治疗的儿童可获得更好的预后。结论 -7/7q-染色体在儿童AML中的发生率为3.7%,易合并额外染色体异常,诱导化疗后完全缓解率低,行HSCT治疗有助于改善预后,提高生存率。 展开更多
关键词 急性髓系白血病 7号染色体异常 儿童
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基于机器学习构建早产儿肺功能异常的预测模型
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作者 张渊博 徐昌富 +2 位作者 朱艳可 王丹 王楸 《浙江医学》 2026年第4期373-379,I0002,共8页
目的探讨早产儿肺功能异常的危险因素,构建预测模型并绘制列线图。方法回顾性纳入2023年3月至2024年2月在温州医科大学附属第一医院新生儿重症监护病房治愈出院的胎龄<34周的85例早产儿为研究对象,纠正胎龄至37~42周行肺功能检查,根... 目的探讨早产儿肺功能异常的危险因素,构建预测模型并绘制列线图。方法回顾性纳入2023年3月至2024年2月在温州医科大学附属第一医院新生儿重症监护病房治愈出院的胎龄<34周的85例早产儿为研究对象,纠正胎龄至37~42周行肺功能检查,根据肺功能检查结果,分为肺功能正常或轻度异常组58例和肺功能中重度异常组27例。采用机器学习最小绝对收缩和选择算子(LASSO)回归和极致梯度提升(XGBoost)算法构建模型,通过ROC曲线、校准曲线、临床决策曲线和临床影响曲线评估模型效能,并绘制列线图。结果LASSO回归模型筛选出的变量为出生体重,验证集AUC为0.933。XGBoost模型筛选出的变量为出生体重、支气管肺发育不良(BPD)和新生儿呼吸窘迫综合征(RDS),验证集AUC为0.967。校准曲线显示两种模型预测概率与实际观察结果高度一致,提示预测与观察匹配度良好;临床决策曲线和临床影响曲线显示XGBoost模型在不同阈值下均能提供更高的临床净获益。XGBoost模型列线图将出生体重、BPD和新生儿RDS整合为风险评分,可直观预测早产儿肺功能异常发生率。结论出生体重、BPD及新生儿RDS是早产儿肺功能异常的独立预测因素,XGBoost模型具有较高的临床实用性。 展开更多
关键词 早产儿 肺功能异常 新生儿支气管肺发育不良
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