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Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families

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Asian Journal of Andrology 2021年第6期23卷 627-632页

作者： Ihsan Khan Basit shah 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 First Affiliated Hospital of USTC Hefei National Laboratory for Physical Sciences at Microscalethe CAS Key Laboratory of Innate Immunity and Chronic DiseaseSchool of Basic Medical SciencesDivision of Life Sciences and MedicineCAS Center for Excellence in Molecular Cell ScienceCollaborative Innovation Center of Genetics and DevelopmentUniversity of Science and Technology of ChinaHefei 230027China

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 *** 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 ***,none of them have been identified in infertile Pakistani males with *** the current study,two Pakistani families with MMAF patients were ***-exome sequencing(WES)of patients and their parents was *** analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families(Family 1:ENST00000357060.3,***300Lysfs*22 and ***526Serfs*43 in a compound heterozygous state;Family 2:ENST00000357060.3,***526Serfs*43 in a homozygous state).Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF *** reverse-transcriptase polymerase chain reaction(qRT-PCR)was carried out to detect the effect of the mutation on mRNA of the affected *** research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF *** 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 *** study will help researchers and clinicians to understand the genetic etiology of MMAF better.

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 missense mutation of CCDC34 causes male infertility with oligoasthenoteratozoospermia in a consanguineous Pakistani family

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Asian Journal of Andrology 2024年第6期26卷 605-609页

作者： Nisar Ahmad Meng-Lei Yang Aurang Zeb Jian-Teng Zhou Muhammad Zubair Tanveer Abbas Xiao-Hua Jiang Yuan-Wei Zhang Huan Zhang wasim shah Qing-Hua Shi Institute of Health and Medicine Hefei Comprehensive National Science CenterDivision of Reproduction and GeneticsFirst Affiliated Hospital of USTCHefei National Laboratory for Physical Sciences at MicroscaleSchool of Basic Medical SciencesBiomedical Sciences and Health Laboratory of Anhui ProvinceDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230027China

Male infertility is a worldwide health issue,affecting 8%–12%of the global ***(OAT)represents a severe type of male infertility,characterized by reduced sperm count and motility and an increased frequency of sperm with aberrant *** whole-exome sequencing,this study identified a novel missense mutation(c.848C>A,p.A283E)in the coiled-coil domain-containing 34 gene(CCDC34)in a consanguineous Pakistani *** rare mutation was predicted to be deleterious and to affect the protein *** and eosin staining of spermatozoa from the patient with OAT revealed multiple morphological abnormalities of the flagella and transmission electron microscopy indicated axonemal ultrastructural defects with a lack of outer dynein *** findings indicated that CCDC34 plays a role in maintaining the axonemal ultrastructure and the assembly or stability of the outer dynein arms,thus expanding the phenotypic spectrum of CCDC34 missense mutations.

关键词： CCDC34 consanguineous family male infertility missense mutation oligoasthenoteratozoospermia

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A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms

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Asian Journal of Andrology 2022年第3期24卷 255-259页

作者： Muhammad Zubair Ranjha Khan Ao Ma Uzma Hameed Mazhar Khan Tanveer Abbas Riaz Ahmad Jian-Teng Zhou wasim shah Ansar Hussain Nisar Ahmed Ihsan Khan Khalid Khan Yuan-Wei Zhang Huan Zhang Li-Min Wu Qing-Hua Shi The First Affiliated Hospital of USTC The CAS Key Laboratory of Innate Immunity and Chronic DiseasesSchool of Life SciencesCAS Center for Excellence in Molecular Cell ScienceCollaborative Innovation Center of Genetics and DevelopmentUniversity of Science and Technology of ChinaHefei 230027China Institute of Industrial Biotechnology Government College UniversityLahore 54000Pakistan Medical Genetics Research Laboratory Department of BiotechnologyQuaid-i-Azam UniversityIslamabad 45320Pakistan

Asthenoteratozoospermia is one of the most severe types of qualitative sperm *** cases are due to mutations in genes encoding the components of sperm flagella,which have an ultrastructure similar to that of motile ***-coil domain containing 103(CCDC103)is an outer dynein arm assembly factor,and pathogenic variants of CCDC103 cause primary ciliary dyskinesia(PCD).However,whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be ***-exome sequencing(WES)was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family.A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified(ENST00000035776.2,c.461A>C,***154Pro).CCDC103 ***154Pro was previously reported as a high prevalence mutation causing PCD,though the reproductive phenotype of these PCD individuals is *** electron microscopy(TEM)of affected individuals’spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms,similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same ***,our findings expand the phenotype spectrum of CCDC103 ***154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.

关键词： asthenoteratozoospermia CCDC103 dynein arms male infertility

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Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice

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Zoological Research 2022年第2期43卷 225-228页

作者： Wei Liu Yue-Wen Wang Huan Zhang Xue-Feng Xie Ao Ma Qumar Zaman Abdul Rafay Javed Tanveer Abbas wasim shah Riaz Ahmad Da-Ren Zhao Hui Ma Muhammad Zubair Ranjha Khan Qing-Hua Shi Division of Reproduction and Genetics First Affiliated Hospital of USTCHefei National Laboratory for Physical Sciences at MicroscaleCAS Key Laboratory of Innate Immunity and Chronic DiseaseSchool of Basic Medical SciencesDivision of Life Sciences and MedicineBiomedical Sciences and Health Laboratory of Anhui ProvinceCAS Center for Excellence in Molecular Cell ScienceCollaborative Innovation Center of Genetics and DevelopmentUniversity of Science and Technology of ChinaHefeiAnhui 230027China Medical Genetics Research Laboratory Department of BiotechnologyQuaid-i-Azam UniversityIslamabad 45320Pakistan

Infertility is a major health issue,affecting approximately 15%of couples of child-bearing *** nearly half of idiopathic infertility cases are assumed to have a genetic basis,the underlying causes remain largely unkno... 详细信息

关键词： tile assumed USP9X

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Spectrum of venous thromboembolism in adult patients with ulcerative colitis in Pakistan:A single center retrospective study

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World Journal of Clinical Cases 2025年第6期13卷 9-13页

作者： Masood Muhammad Karim Hafsa Shaikh Faisal wasim Ismail Department of Medicine The Aga Khan University HospitalKarachi 74800Pakistan Department of General Surgery The Aga Khan University HospitalKarachi 74800Pakistan

BACKGROUND Patients with inflammatory bowel disease are at a 2-8-fold higher risk of deve-loping venous thromboembolism(VTE)as compared to the general *** the exact pathogenesis is unclear,the literature suggests that increased risk of thromboembolic events in such patients occurs as a result of increased coagulation factors,inflammatory cytokines,and reduction in anticoagulants leading to a prothrombotic *** To assess the prevalence,risk factors,management,and outcome of ulcerative colitis(UC)patients who develop *** This was a retrospective chart review done in The Gastroenterology Department of The Aga Khan University *** was collected from medical records for all patients admitted with a diagnosis of UC from January 2012 to December *** Seventy-four patients fulfilled the inclusion *** mean±SD of age at presentation of all UC patients was 45 years±10 years whereas for those who developed VTE,it was 47.6 years±14.7 *** and diabetes were the most common co-morbid seen among UC patients with a frequency of 17(22.9%)and 12(16.2%),respectively.A total of 5(6.7%)patients developed *** venous thrombosis was the most common thromboembolic phenomenon seen in 3(60%)*** the patients with UC and concomitant VTE were discharged home(5;100%).CONCLUSION The prevalence of VTE with UC in Pakistani patients corresponds with the international ***,multi-centric studies are required to further explore these results.

关键词： Deep venous thrombosis Inflammatory bowel disease Low-middle-income country Anticoagulation Protein C deficiency

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Rising incidence of acute hepatitis A among adults and clinical characteristics in a tertiary care center of Pakistan

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World Journal of Virology 2025年第1期14卷 73-82页

作者： Yumna shahid Amna Subhan Butt Iqra Jamali Faisal wasim Ismail Division of Gastroenterology Department of MedicineAga Khan University HospitalKarachi 74800Pakistan Department of Medicine Aga Khan University HospitalKarachi 74800Pakistan

BACKGROUND For decades,hepatitis A virus(HAV)has been a leading cause of acute hepatitis among children and was less prevalent among ***,recently a paradigm shift has been observed in the epidemiology of HAV,as evident by cases of acute hepatitis due to HAV among *** To estimate frequency of HAV in acute viral hepatitis and compare characteristics in HAV and hepatitis E virus(HEV)*** This was a trend analysis conducted at Aga Khan University Hospital Karachi(Sindh,Pakistan)from February 2024 to May *** aged 18 years and older diagnosed with acute viral hepatitis attributed to hepatotropic viruses in 2024 were *** compare the trend patients admitted with acute hepatitis during 2019-2023 were also *** regarding clinical and laboratory parameters were *** yearly trend of acute hepatitis due to HAV and HEV was analyzed,and comparative analysis was done between HAV and HEV cases among *** A total of 396 patients were found to have acute hepatitis during our study *** was diagnosed in 234 patients(59%)while 157 patients(39.6%)were found to have acute HEV ***,acute hepatitis B virus infection was identified in 3 patients(0.7%),whereas acute hepatitis C virus infection was found in 2(0.5%)cases of acute *** trends showed increasing occurrence of HAV infection among adults over last 5 *** patients with acute HAV were younger than patients with HEV(28 years±8 years vs 30 years±8 years;P<0.01).Higher levels of total bilirubin were seen in HEV infection,while higher levels of alanine transaminase were seen in HAV ***,a higher proportion of acute liver failure(ALF),coagulopathy,and mortality were observed in *** An increase in acute hepatitis A cases among adults shows less severity than hepatitis E,highlighting the need for better sanitation,hygiene,and adult hepatitis A vaccination programs.

关键词： Acute hepatitis Hepatitis A virus Hepatitis E virus Acute liver failure Hepatotropic virus Vaccination

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Alternative Strategy for Development of Dielectric Calcium Copper Titanate‑Based Electrolytes for Low‑Temperature Solid Oxide Fuel Cells

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Nano-Micro Letters 2025年第1期17卷 310-332页

作者： Sajid Rauf Muhammad Bilal Hanif Zuhra Tayyab Matej Veis MAKYousaf shah Naveed Mushtaq Dmitry Medvedev Yibin Tian Chen Xia Martin Motola Bin Zhu College of Mechatronics and Control Engineering Shenzhen UniversityShenzhen 518060People’s Republic of China Department of Inorganic Chemistry Faculty of Natural SciencesComenius University BratislavaIlkovicova684215 BratislavaSlovakia Energy Storage Joint Research Center School of Energy and EnvironmentSoutheast UniversityNanjing 210096People’s Republic of China Hydrogen Energy Laboratory Ural Federal University620002 EkaterinburgRussia Laboratory of Electrochemical Devices Based on Solid Oxide Proton Electrolytes Institute of High Temperature Electrochemistry620066 EkaterinburgRussia School of Microelectronics Hubei UniversityWuhan 430062People’s Republic of China

The development of low-temperature solid oxide fuel cells(LT-SOFCs)is of significant importance for realizing the widespread application of *** has stimulated a substantial materials research effort in developing high oxide-ion conductivity in the electrolyte layer of *** this context,for the first time,a dielectric material,CaCu_(3)Ti_(4)O_(12)(CCTO)is designed for LT-SOFCs electrolyte application in this *** individual CCTO and its heterostructure materials with a p-type Ni_(0.8)Co_(0.15)Al_(0.05)LiO_(2−δ)(NCAL)semiconductor are evaluated as alternative electrolytes in LT-SOFC at 450–550℃.The single cell with the individual CCTO electrolyte exhibits a power output of approximately 263 mW cm^(-2) and an open-circuit voltage(OCV)of 0.95 V at 550℃,while the cell with the CCTO–NCAL heterostructure electrolyte capably delivers an improved power output of approximately 605 mW cm^(-2) along with a higher OCV over 1.0 V,which indicates the introduction of high hole-conducting NCAL into the CCTO could enhance the cell performance rather than inducing any potential short-circuiting *** is found that these promising outcomes are due to the interplay of the dielectric material,its structure,and overall properties that led to improve electrochemical mechanism in CCTO–***,density functional theory calculations provide the detailed information about the electronic and structural properties of the CCTO and NCAL and their heterostructure CCTO–*** study thus provides a new approach for developing new advanced electrolytes for LT-SOFCs.

关键词： LT-SOFCs Dielectric CaCu_(3)Ti_(4)O_(12) Semiconductor Ni_(0.8)Co_(0.15)Al_(0.05)LiO_(2−δ) Ionic conductivity Heterostructure electrolyte

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Restless head syndrome:A retrospective study

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World Journal of Methodology 2025年第1期15卷 51-59页

作者： Sanjay Prakash Varoon Vadodaria Niraj Chawda Chetsi S shah Anurag Prakash Department of Neurology Smt.B.K.Shah Medical Institute and Research CentreSumandeep VidyapeethVadodara 391760GujarātIndia Department of Medicine Smt.B.K.Shah Medical Institute and Research CentreSumandeep VidyapeethVadodara 391760GujarātIndia Department of Medicine Parul Institute of Medical Sciences and Research CentreParul University WaghodiaVadodara 391760India

BACKGROUND Restless legs syndrome(RLS)is characterized by an urge to move with an unpleasant sensation in the lower *** typically affects the ***,it can also affect several other body regions,such as the arms,abdomen,face,neck,head,and genital *** are only a few reports of the RLS variant affecting the *** To assess the epidemiological,clinical,and other aspects of the RLS variant affecting the *** We conducted a retrospective study of 17 adult patients(>18 years)who met the RLS criteria and simultaneously experienced RLS-like symptoms in the *** The median age at which symptoms appeared was 41.6 *** and females were equally affected(1.1:1).All 17 patients had uncomfortable sensations in the lower *** or disturbed sleep was the most common comorbidity(n=16,88.2%).However,headache was the most common presenting or primary symptom(n=10,70.5%).Dizziness or an abnormal sensation in the head was the second most common presenting symptom(5 patients,29.4%).Other presenting features were leg pain,backache,and generalized body *** patients responded favorably to dopaminergic *** If RLS-related unpleasant sensations and pain are felt in the head,they may be misinterpreted as headache,dizziness,or psychosomatic *** and headaches in a subset of patients may be two phenotypic manifestations of the same disorder.

关键词： Restless legs syndrome Restless head syndrome Dopamine Headache Migraine Tension-type headache

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Airship aerodynamic model estimation using unscented Kalman filter

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Journal of Systems Engineering and Electronics 2020年第6期31卷 1318-1329页

作者： wasim Muhammad ALI Ahsan Department of Electrical Engineering University of Engineering and TechnologyTaxila 47080Pakistan

An airship model is made-up of aerostatic,aerodynamic,dynamic,and propulsive forces and *** others,the computation of aerodynamic forces and torques is ***,wind tunnel experimentation and potential flow theory are used for their ***,the limitations of these methods pose difficulties in their accurate *** this work,an online estimation scheme based on unscented Kalman filter(UKF)is proposed for their *** proposed method introduces six auxiliary states for the complete aerodynamic *** uses an extended model and provides an estimate of a complete state vector along with auxiliary *** proposed method uses the minimum auxiliary state variables for the approximation of the complete aerodynamic model that makes it computationally less *** estimation performance is evaluated by developing a nonlinear simulation environment for University of Engineering and Technology,Taxila(UETT)*** performance is vali􀅫dated by performing the error analysis based on estimation error and 2-σ uncertainty *** the same problem,the extended Kalman filter(EKF)is also implemented and its results are compared with *** simulation results show that UKF successfully estimates the forces and torques due to the aerodynamic model with small estimation error and the comparative analysis with EKF shows that UKF improves the estimation re􀅫sults and also it is more suitable for the under-consideration problem.

关键词： airship unscented Kalman filter(UKF) extend Kalman filter(EKF) state estimation aerodynamic model estimation

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Macular microvascular and structural changes on optical coherence tomography angiography in atypical optic neuritis

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World Journal of Methodology 2025年第1期15卷 88-94页

作者： Chinmay Mahatme Madhurima Kaushik Veerappan Rathinasabapathy Saravanan Karthik Kumar Virna M shah Department of General Ophthalmology Aravind Eye HospitalCoimbatore 641014Tamil NāduIndia Department of Neuro-ophthalmology Aravind Eye HospitalCoimbatore 641014Tamil NāduIndia Department of Vitreoretina Aravind Eye HospitalCoimbatore 641014Tamil NāduIndia

BACKGROUND Atypical optic neuritis,consisting of neuromyelitis optica spectrum disorders(NMOSD)or myelin oligodendrocyte glycoprotein antibody disease(MOGAD),has a very similar presentation but different prognostic implications and longterm management *** and metabolic factors are being thought to play a role in such autoimmune neuro-inflammatory disorders,apart from the obvious immune mediated *** the advent of optical coherence tomography angiography(OCTA),it is easy to pick up on these subclinical macular microvascular and structural *** To study the macular microvascular and structural changes on OCTA in atypical optic *** This observational cross-sectional study involved 8 NMOSD and 17 MOGAD patients,diagnosed serologically,as well as 10 healthy *** vascular density(MVD)and ganglion cell+inner plexiform layer thickness(GCIPL)were studied using *** There was a significant reduction in MVD in NMOSD and MOGAD affected as well as unaffected eyes when compared with healthy *** and MOGAD affected eyes had significant GCIPL thinning compared with healthy *** unaffected eyes did not show significant GCIPL thinning compared to healthy controls in contrast to MOGAD unaffected *** comparing NMOSD with MOGAD,there was no significant difference in terms of MVD or GCIPL in the affected or unaffected *** Although significant microvascular and structural changes are present on OCTA between atypical optic neuritis and normal patients,they could not help in differentiating between NMOSD and MOGAD cases.

关键词： Optical coherence tomography angiography Atypical optic neuritis Macular microvascular changes Neuromyelitis optica spectrum disorders Myelin oligodendrocyte glycoprotein antibody disorder

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