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
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
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
Multiple morphological abnormalities of the flagella(MMAF)represent a severe form of sperm defects leading to asthenozoospermia and male infertility.In this study,we identified a novel homozygous splicing mutation(c.8...Multiple morphological abnormalities of the flagella(MMAF)represent a severe form of sperm defects leading to asthenozoospermia and male infertility.In this study,we identified a novel homozygous splicing mutation(c.871-4 ACA>A)in the adenylate kinase 7(AK7)gene by whole-exome sequencing in infertile individuals.Spermatozoa from affected individuals exhibited typical MMAF characteristics,including coiled,bent,short,absent,and irregular flagella.Transmission electron microscopy analysis showed disorganized axonemal structure and abnormal mitochondrial sheets in sperm flagella.Immunofluorescence staining confirmed the absence of AK7 protein from the patients’spermatozoa,validating the pathogenic nature of the mutation.This study provides direct evidence linking the AK7 gene to MMAF-associated asthenozoospermia in humans,expanding the mutational spectrum of AK7 and enhancing our understanding of the genetic basis of male infertility.展开更多
Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF ...Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF cases remain unclear.To reveal the genetic causes of MMAF in an infertile patient,whole-exome sequencing was performed to screen for pathogenic genes,and electron microscope was used to reveal the sperm flagellar ultrastructure.A novel heterozygous missense mutation in the outer dense fiber protein 2(ODF2)gene was detected,which was inherited from the patient’s mother and predicted to be potentially damaging.Transmission electron microscopy revealed that the outer dense fibers were defective in the patient’s sperm tail,which was similar to that of the reported heterozygous Odf2 mutation mouse.Immunostaining of ODF2 showed severe ODF2 expression defects in the patient’s sperm.Therefore,it was concluded that the heterozygous mutation in ODF2 caused MMAF in this case.To evaluate the possibility of assisted reproductive technology(ART)treatment for this patient,intracytoplasmic sperm injection(ICSI)was performed,with the help of a hypo-osmotic swelling test and laser-assisted immotile sperm selection(LAISS)for available sperm screening,and artificial oocyte activation with ionomycin was applied to improve the fertilization rate.Four ICSI cycles were performed,and live birth was achieved in the LAISS-applied cycle,suggesting that LAISS would be valuable in ART treatment for MMAF.展开更多
Multiple morphological abnormalities of the sperm flagella(MMAF)is a specific type of asthenoteratozoospermia,presenting with multiple morphological anomalies in spermatozoa,such as absent,bent,coiled,short,or irregul...Multiple morphological abnormalities of the sperm flagella(MMAF)is a specific type of asthenoteratozoospermia,presenting with multiple morphological anomalies in spermatozoa,such as absent,bent,coiled,short,or irregular caliber flagella.Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins(CFAPs;e.g.,CFAP43,CFAP44,CFAP65,CFAP69,CFAP70,and CFAP251)responsible for the MMAF phenotype in infertile men from different ethnic groups.However,none of them have been identified in infertile Pakistani males with MMAF.In the current study,two Pakistani families with MMAF patients were recruited.Whole-exome sequencing(WES)of patients and their parents was performed.WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families(Family 1:ENST00000357060.3,p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state;Family 2:ENST00000357060.3,p.Thr526Serfs*43 in a homozygous state).Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype.Semiquantitative reverse-transcriptase polymerase chain reaction(qRT-PCR)was carried out to detect the effect of the mutation on mRNA of the affected gene.Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients.To the best of our knowledge,this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype.This study will help researchers and clinicians to understand the genetic etiology of MMAF better.展开更多
Multiple morphological abnormalities of the sperm flagella(MMAF)is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate.Whole-exome sequencing(WES)is used to detec...Multiple morphological abnormalities of the sperm flagella(MMAF)is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate.Whole-exome sequencing(WES)is used to detect pathogenic variants in patients with MMAF.In this study,a novel homozygous frameshift variant(c.6158_6159insT)in dynein axonemal heavy chain 8(DNAH8)from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES.Reverse transcription-polymerase chain reaction(RT-PCR)confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation.Hematoxylin–eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients.Furthermore,an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients'spermatozoa.Collectively,our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.展开更多
Background: Multiple sclerosis (MS) is a disease with wide variability in clinical presentation. Bladder dysfunctions are very common in MS patients. Early detection of bladder abnormalities is important to improve th...Background: Multiple sclerosis (MS) is a disease with wide variability in clinical presentation. Bladder dysfunctions are very common in MS patients. Early detection of bladder abnormalities is important to improve the outcome in MS patients. Objectives: The aim of this study is to evaluate the urodynamic detected bladder dysfunctions in relapsing remitting MS patients with mild or without lower urinary tract symptoms. Methods: This is a prospective study for 32 patients with relapsing remitting Multiple Sclerosis from January 2017 to June 2018. We included patients with mild or without lower urinary tract symptoms (LUTS) who had mild to moderate disability. Urodynamic studies were performed for all patients. Results: Urodynamic abnormalities were detected in 22 patients (68.75%). Detrusor overactivity (DO) was present alone in 8 patients (25%);DO combined with detrusor external sphincter dyssynergia in 8 patients (25%);DO with low compliant bladder and impaired contractility in another 4 patients (13%) while DO with low complaint bladder in 2 patients (6%). Bladder dysfunction was correlated to high disability score;longer duration of illness;frequent relapses and the presence of LUTS. Conclusion: Urodynamic abnormalities were found in 68.75% of our patients. This highlights the importance of urodynamic studies in the early evaluation of relapsing remitting Multiple Sclerosis.展开更多
Active inflammation in“inactive”progressive multiple sclerosis:Traditionally,the distinction between relapsing-remitting multiple sclerosis and progressive multiple sclerosis(PMS)has been framed as an inflammatory v...Active inflammation in“inactive”progressive multiple sclerosis:Traditionally,the distinction between relapsing-remitting multiple sclerosis and progressive multiple sclerosis(PMS)has been framed as an inflammatory versus degenerative dichotomy.This was based on a broad misconception regarding essentially all neurodegenerative conditions,depicting the degenerative process as passive and immune-independent occurring as a late byproduct of active inflammation in the central nervous system(CNS),which is(solely)systemically driven.展开更多
Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the...Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the aggressive phase of the triphasic chronic myeloid leukemia (CML), which is a disease with Philadelphia (Ph) chromosome as the major abnormality. In the present study, we report a 76-year-old patient suspected of having AML with eosinophilic differentiation (AML-M4), which in clinical tests resembles CML blast crisis with multiple chromosomal abnormalities. Isochromosome 21 [i(21)(q10)] was the most recurrent feature noted in metaphases with 46 chromosomes. Ring chromosome, tetraploid endoreduplication, recurrent aneuploid clones with loss of X chromosome, monosomy 17, monosomy 7, and structural variation translocation (9;14) were also observed in this patient. Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome. This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML.展开更多
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
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
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
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
This paper studies cooperative robust parallel operation of multiple actuators over an undirected communication graph.The plant is modeled as an uncertain linear system,and the actuators are linear and identical.Based...This paper studies cooperative robust parallel operation of multiple actuators over an undirected communication graph.The plant is modeled as an uncertain linear system,and the actuators are linear and identical.Based on the internal model principle,a distributed dynamic output feedback control law is proposed to achieve both robust output regulation of the closed-loop system and plant input sharing among the actuators.A practical example of five motors cooperatively driving an uncertain shaft under an external load torque is presented to show the effectiveness of the proposed control law.展开更多
Multiple evanescent white dot syndrome(MEWDS)is an inflammatory fundus disease primarily affecting the outer retina.It is characterized by transient yellow-white dots on the outer retina.Although the exact pathogenesi...Multiple evanescent white dot syndrome(MEWDS)is an inflammatory fundus disease primarily affecting the outer retina.It is characterized by transient yellow-white dots on the outer retina.Although the exact pathogenesis remains unclear,the progress in multimodal imaging(MMI)has enhanced our understanding of MEWDS.Most cases of MEWDS are idiopathic,lacking a definite cause,and can spontaneously recover;these are what we term classic MEWDS.Consequently,MEWDS is often referred to as the“common cold of the retina”.Simultaneously,patients with other disorders may present with varying degrees of manifestations similar to MEWDS.The resemblance in clinical or imaging findings can lead to misdiagnosis and inappropriate treatment.These MEWDS-like presentations are actually caused by other systemic or ocular disorders with diverse mechanisms.Thus,they differ from classic MEWDS in certain aspects.Using the keywords“MEWDSlike”and“Secondary MEWDS”,we searched for all relevant studies published in the PubMed database from January 2021 to January 2024.Subsequently,we retrospectively summarized the clinical and imaging characteristics of MEWDS,along with the manifestations in other diseases that resembled those of MEWDS,and compared classic MEWDS with these similar presentations.Based on our review,we classified such similar presentations under other conditions into two categories and summarized their features for differential diagnosis.We recommend paying close attention to patients suspected of having MEWDS,as there may be more serious systemic or ocular disorders that require prompt treatment.展开更多
To conduct marine surveys,multiple unmanned surface vessels(Multi-USV)with different capabilities perform collaborative mapping in multiple designated areas.This paper proposes a task allocation algorithm based on int...To conduct marine surveys,multiple unmanned surface vessels(Multi-USV)with different capabilities perform collaborative mapping in multiple designated areas.This paper proposes a task allocation algorithm based on integer linear programming(ILP)with flow balance constraints,ensuring the fair and efficient distribution of sub-areas among USVs and maintaining strong connectivity of assigned regions.In the established gridmap,a search-based path planning algorithm is performed on the sub-areas according to the allocation scheme.It uses the greedy algorithm and the A*algorithm to achieve complete coverage of the barrier-free area and obtain an efficient trajectory of each USV.The greedy algorithm enables fast local traversal of unvisited grids,while the A*algorithm ensures navigation to escape from deadlock areas and maintains global path continuity.The comparison of task allocation results proves that the task allocation algorithm based on ILP improves the mapping efficiency and task distribution fairness.The proposed allocation method and result analysis provide a certain reference for the practical application ofMulti-USV to perform survey tasks collaboratively.展开更多
Formation control of multiple spacecraft has attracted extensive research attention.However,achieving reliable performance under sensor failures remains a significant challenge.This paper develops an integrated framew...Formation control of multiple spacecraft has attracted extensive research attention.However,achieving reliable performance under sensor failures remains a significant challenge.This paper develops an integrated framework that jointly designs distributed observers and local controllers to ensure robust formation control in the presence of external disturbances and sensor malfunctions.Treating the spacecraft formation as a single interconnected system,each spacecraft constructs a distributed observer that estimates the overall system state by incorporating both its own measurements and the predicted control information shared among the spacecraft.Based on the observer estimates,a local control law is synthesized to maintain the desired formation.Rigorous theoretical analysis and numerical simulations demonstrate that the proposed integrated approach effectively guarantees formation stability and resilience against sensor failures and disturbances.展开更多
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
BACKGROUND The accurate prediction of lymph node metastasis(LNM)is crucial for managing locally advanced(T3/T4)colorectal cancer(CRC).However,both traditional histopathology and standard slide-level deep learning ofte...BACKGROUND The accurate prediction of lymph node metastasis(LNM)is crucial for managing locally advanced(T3/T4)colorectal cancer(CRC).However,both traditional histopathology and standard slide-level deep learning often fail to capture the sparse and diagnostically critical features of metastatic potential.AIM To develop and validate a case-level multiple-instance learning(MIL)framework mimicking a pathologist's comprehensive review and improve T3/T4 CRC LNM prediction.METHODS The whole-slide images of 130 patients with T3/T4 CRC were retrospectively collected.A case-level MIL framework utilising the CONCH v1.5 and UNI2-h deep learning models was trained on features from all haematoxylin and eosinstained primary tumour slides for each patient.These pathological features were subsequently integrated with clinical data,and model performance was evaluated using the area under the curve(AUC).RESULTS The case-level framework demonstrated superior LNM prediction over slide-level training,with the CONCH v1.5 model achieving a mean AUC(±SD)of 0.899±0.033 vs 0.814±0.083,respectively.Integrating pathology features with clinical data further enhanced performance,yielding a top model with a mean AUC of 0.904±0.047,in sharp contrast to a clinical-only model(mean AUC 0.584±0.084).Crucially,a pathologist’s review confirmed that the model-identified high-attention regions correspond to known high-risk histopathological features.CONCLUSION A case-level MIL framework provides a superior approach for predicting LNM in advanced CRC.This method shows promise for risk stratification and therapy decisions,requiring further validation.展开更多
基金supported by the National Natural Science Foundation of China(No.82171599 and No.32270901)the National Key Research and Developmental Program of China(2022YFC2702601 and 2022YFA0806303)the Global Select Project(DJKLX-2022010)of the Institute of Health and Medicine,Hefei Comprehensive National Science Center.
文摘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.
基金supported by the National Natural Science Foundation of China(No.32100689)the National Key Research and Development Program of China(No.2021YFC2700202,No.2022YFA0806303,and No.2022YFC2702601)+1 种基金the Global Select Project(No.DJK-LX-2022010)of the Institute of Health and MedicineHefei Comprehensive National Science Center,and the Joint Fund for New Medicine of USTC(No.YD9100002034).
文摘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.
文摘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.
基金supported by the National Key Research and Development Program of China(No.2021YFC2700202,No.2022YFA0806303,and No.2022YFC2702601)the Global Select Project of the Institute of Health and Medicine,Hefei Comprehensive National Science Center(DJK-LX-2022010)the Joint Fund for New Medicine of USTC(YD9100002034).
文摘Multiple morphological abnormalities of the flagella(MMAF)represent a severe form of sperm defects leading to asthenozoospermia and male infertility.In this study,we identified a novel homozygous splicing mutation(c.871-4 ACA>A)in the adenylate kinase 7(AK7)gene by whole-exome sequencing in infertile individuals.Spermatozoa from affected individuals exhibited typical MMAF characteristics,including coiled,bent,short,absent,and irregular flagella.Transmission electron microscopy analysis showed disorganized axonemal structure and abnormal mitochondrial sheets in sperm flagella.Immunofluorescence staining confirmed the absence of AK7 protein from the patients’spermatozoa,validating the pathogenic nature of the mutation.This study provides direct evidence linking the AK7 gene to MMAF-associated asthenozoospermia in humans,expanding the mutational spectrum of AK7 and enhancing our understanding of the genetic basis of male infertility.
基金supported by grant from the National Key Research and Development Program of China(No.2017YFC1002003).
文摘Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF cases remain unclear.To reveal the genetic causes of MMAF in an infertile patient,whole-exome sequencing was performed to screen for pathogenic genes,and electron microscope was used to reveal the sperm flagellar ultrastructure.A novel heterozygous missense mutation in the outer dense fiber protein 2(ODF2)gene was detected,which was inherited from the patient’s mother and predicted to be potentially damaging.Transmission electron microscopy revealed that the outer dense fibers were defective in the patient’s sperm tail,which was similar to that of the reported heterozygous Odf2 mutation mouse.Immunostaining of ODF2 showed severe ODF2 expression defects in the patient’s sperm.Therefore,it was concluded that the heterozygous mutation in ODF2 caused MMAF in this case.To evaluate the possibility of assisted reproductive technology(ART)treatment for this patient,intracytoplasmic sperm injection(ICSI)was performed,with the help of a hypo-osmotic swelling test and laser-assisted immotile sperm selection(LAISS)for available sperm screening,and artificial oocyte activation with ionomycin was applied to improve the fertilization rate.Four ICSI cycles were performed,and live birth was achieved in the LAISS-applied cycle,suggesting that LAISS would be valuable in ART treatment for MMAF.
基金This work was supported by the National Natural Science Foundation of China(No.32070850)the National Natural Science Foundation of China(No.31630050,31890780,and 32061143006)+2 种基金the National Key Research and Developmental Program of China(2018YFC1003900,2019YFA0802600,and 2016YFC1000600)the Strategic Priority Research Program of the Chinese Academy of Sciences(No.XDB19000000)the Fundamental Research Funds for the Central Universities(No.YD2070002006).
文摘Multiple morphological abnormalities of the sperm flagella(MMAF)is a specific type of asthenoteratozoospermia,presenting with multiple morphological anomalies in spermatozoa,such as absent,bent,coiled,short,or irregular caliber flagella.Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins(CFAPs;e.g.,CFAP43,CFAP44,CFAP65,CFAP69,CFAP70,and CFAP251)responsible for the MMAF phenotype in infertile men from different ethnic groups.However,none of them have been identified in infertile Pakistani males with MMAF.In the current study,two Pakistani families with MMAF patients were recruited.Whole-exome sequencing(WES)of patients and their parents was performed.WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families(Family 1:ENST00000357060.3,p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state;Family 2:ENST00000357060.3,p.Thr526Serfs*43 in a homozygous state).Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype.Semiquantitative reverse-transcriptase polymerase chain reaction(qRT-PCR)was carried out to detect the effect of the mutation on mRNA of the affected gene.Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients.To the best of our knowledge,this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype.This study will help researchers and clinicians to understand the genetic etiology of MMAF better.
基金This work was supported by the National Natural Science Foundation of China(No.31871514,No.81971333,and No.82071709)the National Key Research and Development Program of China(2019YFA0802600 and 2021YFC2700202)。
文摘Multiple morphological abnormalities of the sperm flagella(MMAF)is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate.Whole-exome sequencing(WES)is used to detect pathogenic variants in patients with MMAF.In this study,a novel homozygous frameshift variant(c.6158_6159insT)in dynein axonemal heavy chain 8(DNAH8)from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES.Reverse transcription-polymerase chain reaction(RT-PCR)confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation.Hematoxylin–eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients.Furthermore,an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients'spermatozoa.Collectively,our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.
文摘Background: Multiple sclerosis (MS) is a disease with wide variability in clinical presentation. Bladder dysfunctions are very common in MS patients. Early detection of bladder abnormalities is important to improve the outcome in MS patients. Objectives: The aim of this study is to evaluate the urodynamic detected bladder dysfunctions in relapsing remitting MS patients with mild or without lower urinary tract symptoms. Methods: This is a prospective study for 32 patients with relapsing remitting Multiple Sclerosis from January 2017 to June 2018. We included patients with mild or without lower urinary tract symptoms (LUTS) who had mild to moderate disability. Urodynamic studies were performed for all patients. Results: Urodynamic abnormalities were detected in 22 patients (68.75%). Detrusor overactivity (DO) was present alone in 8 patients (25%);DO combined with detrusor external sphincter dyssynergia in 8 patients (25%);DO with low compliant bladder and impaired contractility in another 4 patients (13%) while DO with low complaint bladder in 2 patients (6%). Bladder dysfunction was correlated to high disability score;longer duration of illness;frequent relapses and the presence of LUTS. Conclusion: Urodynamic abnormalities were found in 68.75% of our patients. This highlights the importance of urodynamic studies in the early evaluation of relapsing remitting Multiple Sclerosis.
文摘Active inflammation in“inactive”progressive multiple sclerosis:Traditionally,the distinction between relapsing-remitting multiple sclerosis and progressive multiple sclerosis(PMS)has been framed as an inflammatory versus degenerative dichotomy.This was based on a broad misconception regarding essentially all neurodegenerative conditions,depicting the degenerative process as passive and immune-independent occurring as a late byproduct of active inflammation in the central nervous system(CNS),which is(solely)systemically driven.
基金supported by a grant from Kerala State Council for Science, Technology and Environment(KSCSTE), Govt. of Kerala, India
文摘Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the aggressive phase of the triphasic chronic myeloid leukemia (CML), which is a disease with Philadelphia (Ph) chromosome as the major abnormality. In the present study, we report a 76-year-old patient suspected of having AML with eosinophilic differentiation (AML-M4), which in clinical tests resembles CML blast crisis with multiple chromosomal abnormalities. Isochromosome 21 [i(21)(q10)] was the most recurrent feature noted in metaphases with 46 chromosomes. Ring chromosome, tetraploid endoreduplication, recurrent aneuploid clones with loss of X chromosome, monosomy 17, monosomy 7, and structural variation translocation (9;14) were also observed in this patient. Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome. This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML.
文摘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.
基金Supported by The National Natural Science Foundation of China(No.82101180)the Fund for Beijing Science&Technology Development of TCM(No.BJZYYB-2023-17)the Beijing Municipal Natural Science Foundation grant(No.7252093).
文摘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.
文摘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.
文摘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.
基金Supported by the Shenzhen Key Laboratory of Control Theory and Intelligent Systems (ZDSYS20220330161800001)the National Natural Science Foundation of China (62303207)the Guangdong Basic and Applied Basic Research Foundation (2024A1515010725)。
文摘This paper studies cooperative robust parallel operation of multiple actuators over an undirected communication graph.The plant is modeled as an uncertain linear system,and the actuators are linear and identical.Based on the internal model principle,a distributed dynamic output feedback control law is proposed to achieve both robust output regulation of the closed-loop system and plant input sharing among the actuators.A practical example of five motors cooperatively driving an uncertain shaft under an external load torque is presented to show the effectiveness of the proposed control law.
文摘Multiple evanescent white dot syndrome(MEWDS)is an inflammatory fundus disease primarily affecting the outer retina.It is characterized by transient yellow-white dots on the outer retina.Although the exact pathogenesis remains unclear,the progress in multimodal imaging(MMI)has enhanced our understanding of MEWDS.Most cases of MEWDS are idiopathic,lacking a definite cause,and can spontaneously recover;these are what we term classic MEWDS.Consequently,MEWDS is often referred to as the“common cold of the retina”.Simultaneously,patients with other disorders may present with varying degrees of manifestations similar to MEWDS.The resemblance in clinical or imaging findings can lead to misdiagnosis and inappropriate treatment.These MEWDS-like presentations are actually caused by other systemic or ocular disorders with diverse mechanisms.Thus,they differ from classic MEWDS in certain aspects.Using the keywords“MEWDSlike”and“Secondary MEWDS”,we searched for all relevant studies published in the PubMed database from January 2021 to January 2024.Subsequently,we retrospectively summarized the clinical and imaging characteristics of MEWDS,along with the manifestations in other diseases that resembled those of MEWDS,and compared classic MEWDS with these similar presentations.Based on our review,we classified such similar presentations under other conditions into two categories and summarized their features for differential diagnosis.We recommend paying close attention to patients suspected of having MEWDS,as there may be more serious systemic or ocular disorders that require prompt treatment.
基金supported in part by the International Science and Technology Project of Guangzhou Development District under Grant 2023GH08the Science and Technology Development Fund,MSAR,under Grants 0029/2022/AGJ and 0029/2023/RIA1the Program of Guangdong under Grant 2023A0505020003.
文摘To conduct marine surveys,multiple unmanned surface vessels(Multi-USV)with different capabilities perform collaborative mapping in multiple designated areas.This paper proposes a task allocation algorithm based on integer linear programming(ILP)with flow balance constraints,ensuring the fair and efficient distribution of sub-areas among USVs and maintaining strong connectivity of assigned regions.In the established gridmap,a search-based path planning algorithm is performed on the sub-areas according to the allocation scheme.It uses the greedy algorithm and the A*algorithm to achieve complete coverage of the barrier-free area and obtain an efficient trajectory of each USV.The greedy algorithm enables fast local traversal of unvisited grids,while the A*algorithm ensures navigation to escape from deadlock areas and maintains global path continuity.The comparison of task allocation results proves that the task allocation algorithm based on ILP improves the mapping efficiency and task distribution fairness.The proposed allocation method and result analysis provide a certain reference for the practical application ofMulti-USV to perform survey tasks collaboratively.
基金supported by the National Natural Science Foundation of China(62088101,62522307,62273045,U2341213)Beijing Nova Program(20230484481)。
文摘Formation control of multiple spacecraft has attracted extensive research attention.However,achieving reliable performance under sensor failures remains a significant challenge.This paper develops an integrated framework that jointly designs distributed observers and local controllers to ensure robust formation control in the presence of external disturbances and sensor malfunctions.Treating the spacecraft formation as a single interconnected system,each spacecraft constructs a distributed observer that estimates the overall system state by incorporating both its own measurements and the predicted control information shared among the spacecraft.Based on the observer estimates,a local control law is synthesized to maintain the desired formation.Rigorous theoretical analysis and numerical simulations demonstrate that the proposed integrated approach effectively guarantees formation stability and resilience against sensor failures and disturbances.
基金supported by the National Natural Science Foundation of China(62271337,62371326,and 62371328)the National Key Research and Development Program of China(2019FYC1710204)+1 种基金the National Clinical Key Specialty Construction Project(10000015Z155080000004)the Natural Science Foundation of Jiangsu Province(BK20231310).
文摘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.
基金Supported by Chongqing Medical Scientific Research Project(Joint Project of Chongqing Health Commission and Science and Technology Bureau),No.2023MSXM060.
文摘BACKGROUND The accurate prediction of lymph node metastasis(LNM)is crucial for managing locally advanced(T3/T4)colorectal cancer(CRC).However,both traditional histopathology and standard slide-level deep learning often fail to capture the sparse and diagnostically critical features of metastatic potential.AIM To develop and validate a case-level multiple-instance learning(MIL)framework mimicking a pathologist's comprehensive review and improve T3/T4 CRC LNM prediction.METHODS The whole-slide images of 130 patients with T3/T4 CRC were retrospectively collected.A case-level MIL framework utilising the CONCH v1.5 and UNI2-h deep learning models was trained on features from all haematoxylin and eosinstained primary tumour slides for each patient.These pathological features were subsequently integrated with clinical data,and model performance was evaluated using the area under the curve(AUC).RESULTS The case-level framework demonstrated superior LNM prediction over slide-level training,with the CONCH v1.5 model achieving a mean AUC(±SD)of 0.899±0.033 vs 0.814±0.083,respectively.Integrating pathology features with clinical data further enhanced performance,yielding a top model with a mean AUC of 0.904±0.047,in sharp contrast to a clinical-only model(mean AUC 0.584±0.084).Crucially,a pathologist’s review confirmed that the model-identified high-attention regions correspond to known high-risk histopathological features.CONCLUSION A case-level MIL framework provides a superior approach for predicting LNM in advanced CRC.This method shows promise for risk stratification and therapy decisions,requiring further validation.
