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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

Fuzzy-Based Sentiment Analysis System for Analyzing Student Feedback and Satisfaction

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Computers, Materials & Continua 2020年第2期62卷 631-655页

作者： Yun Wang Fazli Subhan Shahaboddin Shamshirband muhammad zubair Asghar Ikram UllahAmmara Habib School of Public Administration Zhengzhou UniversityZhengzhouChina National University of Modern Languages IslamabadPakistan Department for Management of Science and Technology Development Ton Duc Thang UniversityHo Chi Minh CityVietnam Faculty of Information Technology Ton Duc Thang UniversityHo Chi Minh CityViet Nam Institute of Computing and Information Technology Gomal UniversityD.I.Khan(KP)Pakistan

The feedback collection and analysis has remained an important subject matter for *** traditional techniques for student feedback analysis are based on questionnaire-based data collection and ***,the student expresses their feedback opinions on online social media sites,which need to be *** study aims at the development of fuzzy-based sentiment analysis system for analyzing student feedback and satisfaction by assigning proper sentiment score to opinion words and polarity shifters present in the input *** technique computes the sentiment score of student feedback reviews and then applies a fuzzy-logic module to analyze and quantify student’s satisfaction at the fine-grained *** experimental results reveal that the proposed work has outperformed the baseline studies as well as state-of-the-art machine learning classifiers.

关键词： Student feedback analysis sentiments opinion words polarity shifters lexicon-based

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

Emotion Recognition from Occluded Facial Images Using Deep Ensemble Model

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Computers, Materials & Continua 2022年第12期73卷 4465-4487页

作者： Zia Ullah muhammad Ismail Mohmand Sadaqat ur Rehman muhammad zubair Maha Driss Wadii Boulila Rayan Sheikh Ibrahim Alwawi Department of Computer Science The Brains InstitutePeshawar25000Pakistan School of Natural and Computing Sciences University of AberdeenAberdeenUK Department of Neurosciences KU Leuven Medical SchoolLeuven3000Belgium Security Engineering Laboratory CCISPrince Sultan UniversityRiyadh12435Saudi Arabia Robotics and Internet of Things Lab Prince Sultan UniversityRiyadh12435Saudi Arabia Department of Computer Science Robert Gordon UniversityAberdeenUK

Facial expression recognition has been a hot topic for decades,but high intraclass variation makes it *** overcome intraclass variation for visual recognition,we introduce a novel fusion methodology,in which the proposed model first extract features followed by feature ***,RestNet-50,VGG-19,and Inception-V3 is used to ensure feature learning followed by feature ***,the three feature extraction models are utilized using Ensemble Learning techniques for final expression *** representation learnt by the proposed methodology is robust to occlusions and pose variations and offers promising *** evaluate the efficiency of the proposed model,we use two wild benchmark datasets Real-world Affective Faces Database(RAF-DB)and AffectNet for facial expression *** proposed model classifies the emotions into seven different categories namely:happiness,anger,fear,disgust,sadness,surprise,and ***,the performance of the proposed model is also compared with other algorithms focusing on the analysis of computational cost,convergence and accuracy based on a standard problem specific to classification applications.

关键词： Ensemble learning emotion recognition feature fusion occlusion

ROLE OF CONSTRUCTED WETLANDS IN NUTRIENT STRIPPING

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湿地科学 2005年第1期3卷 21-26页

作者： khan A zubair M Ali R Department of Civil Engineering Curtin University of Technology Western AustraliaDepartment of Civil Engineering Curtin University of Technology Western Australia CSIRO Land and Water Western Australia

A number of research programs have been established to evaluate potential applications of constructed wetlands in Western Australia. These constructed wetlands are known not only for their nutrient removal capability, but also their role in habitat creation, urban landscaping and water quality and environmental health. They play an important role in the reduction of nutrients, particularly phosphorous, from entering the waterways. This paper reports on the improvement of water quality in the Peel Main Drain before its disposal into the Peel Estuary, Perth, Western Australia. The nitrogen to phosphorous (N:P) ratio was below the critical limit during summer (dry spell) and the system was limited by nitrogen. The concentration of phosphorus was high in summer and low in winter due to increased availability of dissolved oxygen in winter. A wetland was proposed to improve the water quality in the Peel Main Drain using vegetation and substrate. The hydrologic effectiveness was found to be 78% for a detention time of 30 hours. It is expected that the maximum nitrogen removal efficiency of the constructed wetland will be 80% with an estimated efficiency of 40% in the first year and 60-80% in the subsequent years. For phosphorous it is expected that the constructed wetland will be effective in removing filterable reactive phosphorous. Traditional sediment remediation techniques have been found unsuitable for the long term binding of the phosphorous therefore the use of Phoslock TM is recommended.

关键词：湿地富营养化环境保护水资源

Optimizing Storage for Energy Conservation in Tracking Wireless Sensor Network Objects

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Computer Systems Science & Engineering 2023年第5期45卷 1211-1231页

作者： Vineet Sharma Mohammad zubair khan Shivani Batra Abdullah Alsaeedi Prakash Srivastava Department of Computer Science and Engineering KIET Group of InstitutionsDelhi-NCRGhaziabad201206India Department of Computer Science and Information Taibah UniversityMedina42353Saudi Arabia Department of Computer Science Taibah UniversityMedina42353Saudi Arabia Department of Computer Science and Engineering Graphic Era(Deemed to be University)Dehradun248002India

The amount of needed control messages in wireless sensor networks(WSN)is affected by the storage strategy of detected *** broadcasting superfluous control messages consumes excess energy,the network lifespan can be extended if the quantity of control messages is *** this study,an optimized storage technique having low control overhead for tracking the objects in WSN is *** basic concept is to retain observed events in internal memory and preserve the relationship between sensed information and sensor nodes using a novel inexpensive data structure entitled Ordered Binary Linked List(OBLL).Whenever an object passes over the sensor area,the recognizing sensor can immediately produce an OBLL along the object’s *** retrieve the entire information,the OBLL can be traversed with logarithmic complexity which is much less than the traversing complexity of existing linked list *** evaluation and simulations were carried out to ensure that the suggested technique minimizes the number of messages and thus saving energy and extending the network life.

关键词： Energy conservation linked list object tracking wireless sensor networks

SRC:Superior Robustness of COVID-19 Detection from Noisy Cough Data Using GFCC

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Computer Systems Science & Engineering 2023年第8期46卷 2337-2349页

作者： Basanta Kumar Swain Mohammad zubair khan Chiranji Lal Chowdhary Abdullah Alsaeedi Department of Computer Science&Engineering Government College of EngineeringKalahandiBhawanipatna766002India Department of Computer Science and Information Taibah UniversityMedina42353Saudi Arabia School of Information Technology and Engineering VIT University Vellore632014Tamil NaduIndia Computer Science Department College of Computer Science and EngineeringTaibah UniversityMedina42353Saudi Arabia

This research is focused on a highly effective and untapped feature called gammatone frequency cepstral coefficients(GFCC)for the detection of COVID-19 by using the nature-inspired meta-heuristic algorithm of deer hunting optimization and artificial neural network(DHO-ANN).The noisy crowdsourced cough datasets were collected from the public *** research work claimed that the GFCC yielded better results in terms of COVID-19 detection as compared to the widely used Mel-frequency cepstral coefficient in noisy crowdsourced speech *** proposed algorithm's performance for detecting COVID-19 disease is rigorously validated using statistical measures,F1 score,confusion matrix,specificity,and sensitivity ***,it is found that the proposed algorithm using GFCC performs well in terms of detecting the COVID-19 disease from the noisy crowdsourced cough dataset,***,the proposed algorithm and undertaken feature parameters have improved the detection of COVID-19 by 5%compared to the existing methods.

关键词： COVID-19 GFCC DHO-ANN cough data

Diagnostic dilemma of abdominal tuberculosis in non-HIV patients:An ongoing challenge for physicians

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World Journal of Gastroenterology 2006年第39期12卷 6371-6375页

作者： Rustam khan Shahab Abid Wasim Jafri Zaigham Abbas Khalid Hameed zubair Ahmad Section of Gastroenterology Department of Medicine The Aga Khan University Hospital Karachi Pakistan Department of Surgery The Aga Khan University Hospital Karachi Pakistan Department of pathology The Aga Khan University Hospital Karachi Pakistan

AIM： To assess the clinical features, yield of the diagnostic tests and outcome of abdominal tuberculosis in non-HIV patients.METHODS： Adult patients with discharge diagnosis of abdominal tuberculosis （based upon; positive microbiology, histo-pathology, imaging or response to trial of anti TB drugs） during the period 1999 to 2004 were analyzed. Patient＇s characteristics, laboratory investigations, radiological, endoscopic and surgical findings were evaluated. Abdominal site involved （intestinal, peritoneal, visceral, and nodal） and response to treatment was also noted.RESULTS： There were 209 patients enrolled. One hundred and twenty-three （59%） were females. Symptoms were abdominal pain 294 （93%）, fever 234 （64%）, night sweats 99 （48%）, weight loss 98 （47%）, vomiting 75 （36%）, ascites 74 （35%）, constipation 64 （31%）, and diarrhea 25 （12%）. Sub-acute and acute intestinal obstruction was seen in 28 （13%） and 12 （11%） respectively. Radiological evidence of pulmonary tuberculosis was found in 134 （64%） patients. Basis of diagnosis of abdominal tuberculosis were radiology （Chest and barium X-Rays, Ultrasound and CT scan abdomen） in 111 （53%） and histo-pathology （tissue obtained during surgery, colonoscopy, CT or ultrasound guided biopsy, laparoscopy and upper gastro intestinal endoscopy） in 87 （42%） patients. Mycobacterium culture was positive in 6/87 （7%） patients and response to therapeutic trial of anti tubercular drugs was the basis of diagnosis in 5 （2.3%） patients. Predominant site of involvement by abdominal TB was intestinal in 103 （49%） patients, peritoneal in 87 （42%） patients, solid viscera in 10 （5%） and nodal in 9 （4%） patients. Response to medical treatment was found in 158 （76%） patients and additionally 35 （17%） patients also underwent surgery. In a 425 ± 120 d follow-up period 12 patients died （eight post operative） and no case of relapse was noted.CONCLUSION： Abdominal TB has diverse and nonspecific symptomatology. No single test is adequate for d

关键词： Abdominal tuberculosis Gastrointestinal tuberculosis Tuberculosis Diagnosis and abdominal tuberculosis

Neighborhood topological effect on grain topology-size relationship in three-dimensional polycrystalline microstructures

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Chinese Science Bulletin 2013年第30期58卷 3704-3708页

作者： ASAD Ullah LIU GuoQuan WANG Hao MATIULLAH khan DIL Faraz khan M zubair Iqbal School of Materials Science and Engineering University of Science and Technology Beijing Department of Mathematics Karakoram International University Gilgit-Baltistan State Key Laboratory for Advanced Metals and Materials University of Science and Technology Beijing Department of Physics University of Science and Technology Bannu School of Applied Sciences University of Science and Technology Beijing

A new grain topology-size relationship in three-dimensional(3D)polycrystalline microstructures has recently been established by considering the effects of non-random first nearest neighbor *** this contribution,a generalized form for this relationship is presented by considering the interactions of kth(k=1,2,3…)nearest neighbor grains,and large scale Monte Carlo-Potts model simulation is used to investigate the general neighborhood topological effect on the topology-size *** results show that,unlike their first nearest neighbors(k=1),the topological correlations of 3D grains with their kth layers(k 2)of nearest-neighbors may have trivial effect on the topology-size relationship.

关键词：拓扑关系微观结构大小关系邻居多晶三维粮食 Potts模型