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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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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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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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A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families
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作者 Ansar Hussain Huan Zhang +16 位作者 Muhammad Zubair Wasim Shah Khalid Khan Imtiaz Ali Yousaf Raza Aurang Zeb Tanveer Abbas Nisar Ahmed Fazal Rahim Ghulam Mustafa Meftah Uddin Nadeem Ullah Musavir Abbas Muzammil Ahmad Khan Hui Ma Bo Yang Qing-Hua Shi 《Asian Journal of Andrology》 2025年第2期189-195,共7页
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
关键词 AK7 ASTHENOZOOSPERMIA male infertility multiple morphological anomalies of the flagella
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Novel mutation in ODF2 causes multiple morphological abnormalities of the sperm flagella in an infertile male 被引量:5
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作者 Zi-Jue Zhu Yi-Zhou Wang +6 位作者 Xiao-Bo Wang Chen-Cheng Yao Liang-Yu Zhao Zhen-Bo Zhang Yu Wu Wei Chen Zheng Li 《Asian Journal of Andrology》 SCIE CAS CSCD 2022年第5期463-472,共10页
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
关键词 intracytoplasmic sperm injection laser-assisted immotile sperm selection multiple morphological abnormalities of the sperm flagella outer dense fiber protein 2(ODF2)
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Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families 被引量:2
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作者 Ihsan Khan Basit Shah +12 位作者 Sobia Dil Nadeem Ullah Jian-Teng Zhou Da-Ren Zhao Yuan-Wei Zhang Xiao-Hua Jiang Ranjha Khan Asad Khan Haider Ali Muhammad Zubair Wasim Shah Huan Zhang Qing-Hua Shi 《Asian Journal of Andrology》 SCIE CAS CSCD 2021年第6期627-632,共6页
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
关键词 cilia and flagella-associated proteins male infertility multiple morphological abnormalities of the sperm flagella whole-exome sequencing
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A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family 被引量:1
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作者 Sobia Dil Asad Khan +9 位作者 Ahsanullah Unar Meng-Lei Yang Imtiaz Ali Aurang Zeb Huan Zhang Jian-Teng Zhou Muhammad Zubair Khalid Khan Shun Bai Qing-Hua Shi 《Asian Journal of Andrology》 SCIE CAS CSCD 2023年第3期350-355,共6页
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
关键词 DNAH8 gene mutation male infertility multiple morphological abnormalities of the sperm flagella
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Urodynamic Abnormalities in Patients with Relapsing Remitting Multiple Sclerosis
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作者 Alaaeldin Sedky Bekhit Mohammed Saber-Khalaf 《World Journal of Neuroscience》 2018年第4期423-431,共9页
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
关键词 URODYNAMIC BLADDER DYSFUNCTION multiple SCLEROSIS
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Illusion of inactivity:Revisiting progressive multiple sclerosis treatment paradigms
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作者 Tal Ganz Tamir Ben-Hur 《Neural Regeneration Research》 2026年第3期1134-1135,共2页
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
关键词 inflammatory versus degenerative dichotomythis treatment paradigms illusion inactivity multiple sclerosis traditionallythe central nervous system cns which progressive multiple sclerosis active inflammation progressive multiple sclerosis pms
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Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation—a rare case from South India
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作者 Sangeetha Vijay Santhi Sarojam +4 位作者 Sureshkumar Raveendran Vani Syamala Sreeja Leelakumari Geetha Narayanan Sreedharan Hariharan 《Chinese Journal of Cancer》 SCIE CAS CSCD 2012年第1期45-50,共6页
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
关键词 慢性粒细胞白血病 嗜酸性粒细胞 等臂染色体 染色体异常 髓细胞 急性 细胞遗传学分析 复发
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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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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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Multiple evanescent white dot syndrome and presentations similar to multiple evanescent white dot syndrome in other disorders:a narrative review
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作者 Zhen-Yu Liu Hang Zhang Xiu-Li Sun 《International Journal of Ophthalmology(English edition)》 2025年第9期1777-1789,共13页
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
关键词 classic multiple evanescent white dot syndrome epiphenomenon multiple evanescent white dot syndrome multiple evanescent white dot syndrome multimodal imaging secondary multiple evanescent white dot syndrome
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Predicting lymph node metastasis in colorectal cancer using caselevel multiple instance learning
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作者 Ling-Feng Zou Xuan-Bing Wang +4 位作者 Jing-Wen Li Xin Ouyang Yi-Ying Luo Yan Luo Cheng-Long Wang 《World Journal of Gastroenterology》 2026年第1期110-125,共16页
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
关键词 Colorectal cancer Lymph node metastasis Deep learning multiple instance learning HISTOPATHOLOGY
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Multiple Infantile Myofibromatosis with Skeletal Abnormalities
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作者 Ibrahim Abdulaziz Hamama Tariq Alhazmi Waseemoddin Patel 《Health》 2020年第7期849-856,共8页
Background: Infantile myofibromatosis is an uncommon disorder characterized by multiple fibromatous tumours involving skin, bone, muscle, viscera and subcutaneous tissue. It is a rare benign mesenchymal tumour;most co... Background: Infantile myofibromatosis is an uncommon disorder characterized by multiple fibromatous tumours involving skin, bone, muscle, viscera and subcutaneous tissue. It is a rare benign mesenchymal tumour;most commonly occurs in infancy or early childhood. The clinical presentation can mimic malignant tumours of infancy or childhood. Case Presentation: We describe a rare case of multicentric Infantile myofibromatosis in a 6-month-old infant presenting with multiple scalp swellings and associated skeletal abnormalities (adducted thumbs, clinodactyly and bilateral hallux valgus deformity of great toes). The case required surgical excision of all scalp lesions and orthopedic manipulation of skeletal abnormalities. Conclusion: Infantile myofibromatosis presenting as multiple lesions in the scalp associated with skeletal abnormalities, is very rare. To best of our knowledge, the unique combination of the distinct skeletal abnormalities in infantile myofibromatosis has not been reported so far. This report emphasizes the possibility of skeletal abnormalities in infantile myofibromatosis. 展开更多
关键词 Infantile Myofibromatosis multiple Fibromatous Skeletal abnormalities Clinodactyly Hallux Valgus Deformity
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Mobile blue-light communication over a signal optical path using a time-division multiplexing scheme 被引量:1
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作者 Pengzhan Liu Linning Wang +6 位作者 Jiayao Zhou Xinijie Mo Yingze Liang Jiahao Gou Ziqian Qi Ziping Cao Yongjin Wang 《Journal of Semiconductors》 2025年第3期82-88,共7页
Multiple quantum well(MQW) Ⅲ-nitride diodes that can simultaneously emit and detect light feature an overlapping region between their electroluminescence and responsivity spectra, which allows them to be simultaneous... Multiple quantum well(MQW) Ⅲ-nitride diodes that can simultaneously emit and detect light feature an overlapping region between their electroluminescence and responsivity spectra, which allows them to be simultaneously used as both a transmitter and a receiver in a wireless light communication system. Here, we demonstrate a mobile light communication system using a time-division multiplexing(TDM) scheme to achieve bidirectional data transmission via the same optical channel.Two identical blue MQW diodes are defined by software as a transmitter or a receiver. To address the light alignment issue, an image identification module integrated with a gimbal stabilizer is used to automatically detect the locations of moving targets;thus, underwater audio communication is realized via a mobile blue-light TDM communication mode. This approach not only uses a single link but also integrates mobile nodes in a practical network. 展开更多
关键词 multiple quantum well diodes electroluminescence and responsivity spectra overlap mobile light communication system time-division multiplexing scheme
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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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Ocean-bottom cable data multiple suppression based on equipoise pseudo-multichannel matching filter 被引量:3
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作者 王东凯 刘怀山 +1 位作者 童思友 朱伟强 《Applied Geophysics》 SCIE CSCD 2015年第2期179-186,274,共9页
The effect of strong reflection interfaces, such as free surface, seabed, is strong; thus, the coupling of multiples and waves reduces the quality of ocean-bottom cable seismic data. Using the different polarity respo... The effect of strong reflection interfaces, such as free surface, seabed, is strong; thus, the coupling of multiples and waves reduces the quality of ocean-bottom cable seismic data. Using the different polarity response of hydrophones and geophones to downgoing wave fields, dual-sensor summation can eliminate receiver-side multiples, enhance primaries, and improve the resolution of seismic data. We present a dual-sensor summation method based on the equipoise pseudo-multichannel adaptive matching filter. Compared with traditional methods, the proposed method is totally data driven and does not depend on the reflection coefficient; moreover, good results are obtained using synthetic and real data. 展开更多
关键词 receiver-side multiple source-side multiple dual-sensor summation equipoise pseudo-multichannel matching
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Phase I clinical study of humanized BCMA-single-domain antibodies targeting CAR-T in patients with relapsed or refractory multiple myeloma
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作者 Gaofeng Zheng Ruyi Xu +6 位作者 Heng Mei Xiaoyan Han Donghua He Yanling Weng Cheng Wen Zhuoxiao Cao Zhen Cai 《Cancer Biology & Medicine》 2025年第11期1377-1380,共4页
Multiple myeloma(MM),one of the most common hemato logical neoplasms worldwide,originates from malignant plasma cells in the bone marrow.MM remains an incurable disease,although continued treatment advancements have m... Multiple myeloma(MM),one of the most common hemato logical neoplasms worldwide,originates from malignant plasma cells in the bone marrow.MM remains an incurable disease,although continued treatment advancements have markedly increased overall survival.Many patients with MM eventually experience relapse or become treatment-refractory1.Patients with relapsed or refractory multiple myeloma(RRMM)become progressively more challenging to manage and have poor prognosis2. 展开更多
关键词 CAR T relapsed refractory multiple myeloma bone marrowmm phase I clinical study hemato logical neoplasms multiple myeloma rrmm become malignant plasma cells multiple myeloma mm one
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Exploration of preventive treatment for high risk patients with metachronous multiple esophageal squamous cell carcinoma:A case report
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作者 Dan Chen Ding-Fu Zhong Dong Liu 《World Journal of Clinical Oncology》 2025年第8期243-249,共7页
BACKGROUND Metachronous multiple esophageal squamous cell carcinomas(ESCCs)may occur in some patients after endoscopic resection.Multiple dysplastic lesions in the esophagus increase risk of multiple squamous cell car... BACKGROUND Metachronous multiple esophageal squamous cell carcinomas(ESCCs)may occur in some patients after endoscopic resection.Multiple dysplastic lesions in the esophagus increase risk of multiple squamous cell carcinomas(SCCs).Endoscopic imaging technology such as narrow band imaging(NBI),can detect early SCC.Lugol chromoendoscopy is also the conventional standard technique for detecting superficial ESCC.However,little is known about the interval from the first SCC to the metachronous SCC.Effective methods to prevent multiple metachronous SCCs are needed in survivors of esophageal SCC.CASE SUMMARY A 56-year-old man showed a slightly elevated reddish area in the middle thoracic esophagus at 30 cm from the incisors on gastroscopy for routine examination.Esophageal mucosa lesion was about 2.5 cm.NBI and magnifying gastroscopy confirmed intra-epithelial papillary loop type B-1 according to the Japan Esophageal Society Classification.Lugol chromoendoscopy was used to evaluate the dysplastic squamous epithelium in the esophagus.Biopsy pathology revealed severe dysplastic squamous epithelium.Computed tomography showed no lymph node metastasis.His complete blood test and tumor markers were within reference values.He had no history of alcohol consumption and smoking.Mucosal lesion was dissected by endoscopic submucosal dissection(ESD).Postoperative pathological results showed moderately differentiated squamous carcinoma.No cancer thrombus was seen in the vasculature,and the surrounding cut edge was not involved.The patient underwent radiotherapy within 2 months after ESD.The multiple Lugol-voiding lesions disappeared,and enhanced chest computed tomography revealed no lymph node metastasis.CONCLUSION This is the first case of multiple dysplastic lesions of esophagus cured by radiotherapy.Radiotherapy after minimally invasive endoscopic treatment might be a safe and effective optional therapeutic strategy to prevent metachronous multiple esophageal SCCs. 展开更多
关键词 multiple dysplastic lesions Metachronous multiple esophageal squamous cell carcinomas Lugol-voiding lesions Lugol chromoendoscopy Radiotherapy Case report
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