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Circulating tumor DNA and its role in detection, prognosis and therapeutics of hepatocellular carcinoma

Chinese Journal of Cancer Research 2024年第2期36卷 195-214页

作者： Sana Rashid Yingchuan Sun Umair Ali Khan Saddozai Sikandar Hayyat Muhammad Usman Munir Muhammad Usman Akbar Muhammad Babar Khawar Zhiguang Ren Xinying Ji Malik Ihsan Ullah Khan Institute of molecular Biology and Biotechnology University of LahoreLahore 54590Pakistan Department of Internal Oncology(Section Ⅰ) Xuchang Municipal Central HospitalXuchang 461000China Institute of Translational Medicine Medical CollegeYangzhou UniversityYangzhou 225001China Australian Institute for Bioengineering&Nanotechnology the University of QueenslandBrisbane 4072Australia Gomal Center of Biochemistry and Biotechnology Gomal UniversityDera Ismail Khan 29111Pakistan Applied molecular Biology and Biomedicine lab Department of ZoologyUniversity of NarowalNarowal Punjab 51600Pakistan Kaifeng Municipal Key laboratory for Infection and Biosafety Henan International Joint Laboratory of Nuclear Protein RegulationSchool of Basic Medical SciencesHenan UniversityKaifeng 475004China Faculty of Basic Medical Subjects Shu-Qing Medical College of ZhengzhouZhengzhou 450064China Department of Medicine Huaxian County People's HospitalHuaxian 456400China

Hepatocellular carcinoma(HCC) is considered the fifth most prevalent cancer among all types of cancers and has the third most morbidity value. It has the most frequent duplication time and a high recurrence rate. Recently, the most unique technique used is liquid biopsies, which carry many markers;the most prominent is circulating tumor DNA(ctDNA). Varied methods are used to investigate ctDNA, including various forms of polymerase chain reaction(PCR) [emulsion PCR(ePCR), digital PCR(dPCR), and bead, emulsion, amplification, magnetic(BEAMing) PCR]. Hence ctDNA is being recognized as a potential biomarker that permits early cancer detection,treatment monitoring, and predictive data on tumor burden are subjective to therapy or surgery. Numerous ctDNA biomarkers have been investigated based on their alterations such as 1) single nucleotide variations(either insertion or deletion of a nucleotide) markers including TP53, KRAS, and CCND1;2) copy number variations which include markers such as CDK6, EFGR, MYC and BRAF;3) DNA methylation(RASSF1A, SEPT9, KMT2C and CCNA2);4) homozygous mutation includes ctDNA markers as CDKN2A, AXIN1;and 5) gain or loss of function of the genes, particularly for HCC. Various researchers have conducted many studies and gotten fruitful ***, there are some drawbacks to ctDNA namely low quantity, fragment heterogeneity, less stability, limited mutant copies and standards, and differential sensitivity. However, plenty of investigations demonstrate ctDNA's significance as a polyvalent biomarker for cancer and can be viewed as a future diagnostic, prognostic and therapeutic agent. This article overviews many conditions in genetic changes linked to the onset and development of HCC, such as dysregulated signaling pathways, somatic mutations, single-nucleotide polymorphisms, and genomic instability. Additionally, efforts are also made to develop treatments for HCC that are molecularly targeted and to unravel some of the genetic pathways that f

关键词： Hepatocellular carcinoma circulating tumor DNA biomarkers single nucleotide variations diagnosis prognosis

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A review of SARS-CoV-2 variants and vaccines:Viral properties,mutations,vaccine efficacy,and safety

Infectious Medicine

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Infectious Medicine 2023年第4期2卷 247-261页

作者： Md.Aminul Islam Advanced molecular lab Department of MicrobiologyPresident Abdul Hamid Medical CollegeKarimganj 2310Bangladesh COVID-19 diagnostic lab Department of MicrobiologyNoakhali Science and Technology UniversityNoakhali 3814Bangladesh

The severe acute respiratory syndrome coronavirus disease 2 instigated by coronavirus disease of 2019(COVID-19)has delivered an unfathomable obstruction that has touched all sectors *** new vaccine tech-nologies and mass administration of booster doses,the virus persists,and unknown the ending of the pandemic for new variants and ***,whether leaning on home medications or using plant extracts is suf-ficient often to combat the virus has generated tremendous interest in the scientific *** databases including PubMed,Scopus,Web of Science,and Google Scholar used to find published articles linked with related ***,COVID-19 third and fourth shots of vaccines are progressively administered worldwide,where some countries trail others by a significant *** proteins related to viral activity have changed,possibly boosting the virus infectivity and making antibodies *** study will reminisce the viral genome,as-sociated pathways for viral protein functions,variants,and their *** current,comprehensive review will also provide information on vaccine technologies developed by several biotech companies and the efficacy of their doses,costs including boosters on a mass *** no vaccine is working to protect fully against all the variants,the new proactive vaccine research needs to be conducted based on all variants,their sub-lineage,and mutations.

关键词： SARS-CoV-2 Variants&subvariants Vaccines Booster doses Immunity

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Approach to cardiac masses: Thinking inside and outside the box

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World Journal of Clinical Cases 2024年第28期12卷 6132-6136页

作者： Elia De Maria Chief of Arrhythmology lab Cardiology UnitRamazzini HospitalCarpi 41012ModenaItaly

In this editorial we comment on the article by Huffaker et al,published in the current issue of the World Journal of Clinical *** masses encompass a broad range of lesions,potentially involving any cardiac structure,and they can be either neoplastic or *** cardiac tumors are rare,while metastases and pseudotumors are relatively *** masses frequently pose significant diagnostic and therapeutic *** imaging is fundamental for differential diagnosis,treatment,and surgical *** particular cardiac magnetic resonance(CMR)is currently the gold standard for noninvasive tissue *** allows evaluation of the relationship between the tumor and adjacent structures,detection of the degree of infiltration or expansion of the mass,and prediction of the possible malignancy of a mass with a high *** flow charts of diagnostic work-up have been proposed,based on clinical,laboratory and imaging findings,with the aim of helping physicians approach the problem in a pragmatic way(“thinking inside the box”).However,the clinical complexity of cancer patients,in particular those with rare syndromes,requires a multidisciplinary approach and an open mind to go beyond flow charts and diagnostic algorithms,in other words the ability to“think outside the box”.

关键词： Cardiac masses Cardiac tumors Cardio-oncology Cardiac magnetic resonance Primitive cardiac tumors

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Optimizing Deep Learning for Computer-Aided Diagnosis of Lung Diseases: An Automated Method Combining Evolutionary Algorithm, Transfer Learning, and Model Compression

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Computer Modeling in Engineering & Sciences 2024年第3期138卷 2519-2547页

作者： Hassen Louati Ali Louati Elham Kariri Slim Bechikh College of Information Technology Kingdom UniversityRiffa40434Bahrain SMART lab University of TunisISGTunisTunisia Department of Information Systems College of Computer Engineering and SciencesPrince Sattam bin Abdulaziz UniversityAl-Kharj11942Saudi Arabia

Recent developments in Computer Vision have presented novel opportunities to tackle complex healthcare issues,particularly in the field of lung disease *** promising avenue involves the use of chest X-Rays,which are commonly utilized in *** fully exploit their potential,researchers have suggested utilizing deep learning methods to construct computer-aided diagnostic ***,constructing and compressing these systems presents a significant challenge,as it relies heavily on the expertise of data *** tackle this issue,we propose an automated approach that utilizes an evolutionary algorithm(EA)to optimize the design and compression of a convolutional neural network(CNN)for X-Ray image *** approach accurately classifies radiography images and detects potential chest abnormalities and infections,including ***,our approach incorporates transfer learning,where a pre-trainedCNNmodel on a vast dataset of chest X-Ray images is fine-tuned for the specific task of detecting *** method can help reduce the amount of labeled data required for the task and enhance the overall performance of the *** have validated our method via a series of experiments against state-of-the-art architectures.

关键词： Computer-aided diagnosis deep learning evolutionary algorithms deep compression transfer learning

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PICOTEES:a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts

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Journal of Genetics and Genomics 2024年第2期51卷 243-251页

作者： Xinran Dong Yulan Lu Lanting Guo Chuan Li Qi Ni Bingbing Wu Huijun Wang Lin Yang Songyang Wu Qi Sun Hao Zheng Wenhao Zhou Shuang Wang Center for molecular Medicine Children's Hospital of Fudan UniversityShanghai 201102China Key laboratory of Birth Defects Children's Hospital of Fudan UniversityShanghai 201102China Department of Bioinformatics Hangzhou Nuowei Information Technology Co.LtdHangzhouZhejiang 310000China The Third Research Institute of the Ministry of Public Security Shanghai 200031China Xiamen Campus of Children's Hospital of Fudan University XiamenFujian 361006China Institutes for Systems Genetics West China HospitalChengduSichuan 610041China Shanghai Putuo People's Hospital Tongji UniversityShanghai 200060China

The growth in biomedical data resources has raised potential privacy concerns and risks of genetic information leakage. For instance, exome sequencing aids clinical decisions by comparing data through web services, but it requires significant trust between users and providers. To alleviate privacy concerns, the most commonly used strategy is to anonymize sensitive data. Unfortunately, studies have shown that anonymization is insufficient to protect against reidentification attacks. Recently, privacy-preserving technologies have been applied to preserve application utility while protecting the privacy of biomedical data. We present the PICOTEES framework, a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants (https://***:3000/). PICOTEES enables privacy-preserving queries of the phenotype spectrum for a single variant by utilizing trusted execution environment technology, which can protect the privacy of the user's query information, backend models, and data, as well as the final results. We demonstrate the utility and performance of PICOTEES by exploring a bioinformatics dataset. The dataset is from a cohort containing 20,909 genetic testing patients with 3,152,508 variants from the Children's Hospital of Fudan University in China, dominated by the Chinese Han population (>99.9%). Our query results yield a large number of unreported diagnostic variants and previously reported pathogenicity.

关键词： Privacy protecti on Rare diseases in children Genetic testing Web system Trusted executi on envir onment

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Pancreatic acinar cell carcinoma:A comprehensive review

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World Journal of Gastroenterology 2022年第40期28卷 5827-5844页

作者： Luis Fernando Calimano-Ramirez Taher Daoud Dheeraj Reddy Gopireddy Ajaykumar C Morani Rebecca Waters Kazim Gumus Albert Russell Klekers Priya R Bhosale Mayur K Virarkar Department of Radiology University of Florida College of Medicine JacksonvilleJacksonvilleFL 32209United States Department of diagnostic Radiology The University of Texas MD Anderson Cancer CenterHoustonTX 77030United States Department of diagnostic Radiology University of Florida College of Medicine JacksonvilleJacksonvilleFL 32209United States Department of Pathology and lab Medicine The University of Texas MD Anderson Cancer CenterHoustonTX 77030United States Department of Research and diagnostic Radiology University of Florida College of Medicine JacksonvilleJacksonvilleFL 32209United States

Acinar cell carcinoma(ACC)is a rare pancreatic malignancy with distinctive clinical,molecular,and morphological *** long-term survival of ACC patients is substantially superior to that of pancreatic adenocarcinoma *** there are no significant patient series about ACCs,our understanding of this illness is mainly based on case reports and limited patient *** resection is the treatment of choice for patients with the disease restricted to one organ;however,with recent breakthroughs in precision medicine,medicines targeting the one-of-a-kind molecular profile of ACC are on the *** are no standard treatment protocols available for people in which a total surgical resection to cure the condition is not *** a result of shared genetic alterations,ACCs are chemosensitive to agents with activity against pancreatic adenocarcinomas and colorectal *** role of neoadjuvant or adjuvant chemoradiotherapy has not been *** article aims to do a comprehensive literature study and present the most recent information on acinar cell cancer.

关键词： Acinar cell carcinoma Pancreas Imaging Immunohistochemical stains molecular features Surgery Chemotherapy

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Untrained neural network for linear tomographic absorption spectroscopy

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Science China Technological Sciences 2024年第9期67卷 2787-2796页

作者： Chen JingRuo Xu ShiJie Liu HeCong Huang JianQing Liu YingZheng Cai WeiWei Key lab of Education Ministry for Power Machinery and Engineering School of Mechanical EngineeringShanghai Jiao Tong University EMPI Institute for Energy and Materials Processes Reactive FluidsUniversity of Duisburg-Essen Department of Electrical and Electronic Engineering The University of Hong Kong

Linear tomographic absorption spectroscopy(LTAS) is a non-destructive diagnostic technique widely employed for gas *** inverse problem of LTAS represents a classic example of an ill-posed problem. Linear iterative algorithms are commonly employed to address such problems, yielding generally poor reconstruction results due to the incapability to incorporate suitable prior conditions within the reconstruction process. Data-driven deep neural networks(DNN) have shown the potential to yield superior reconstruction results; however, they demand a substantial amount of measurement data that is challenging to *** surmount this limitation, we proposed an untrained neural network(UNN) to tackle the inverse problem of LTAS. In conjunction with an early-stopping method based on running variance, UNN achieves improved reconstruction accuracy without supplementary training data. Numerical studies are conducted to explore the optimal network architecture of UNN and to assess the reliability of the early-stopping method. A comparison between UNN and superiorized ART(SUP-ART) substantiates the exceptional performance of UNN.

关键词： absorption spectroscopy linear tomography untrained neural networks combustion diagnostics

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Neuroimaging features in a patient with non-ketotic hyperglycaemic seizures: A case report

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World Journal of Clinical Cases 2024年第5期12卷 1004-1009页

作者： Jing Wu Huijie Feng Yaxiong Zhao Junfeng Li Ting Li Kefeng Li Department of Radiology Heping Hospital Affiliated to Changzhi Medical CollegeChangzhi 046000Shanxi ProvinceChina Changzhi Key lab of Functional Imaging for Brain Diseases Heping Hospital Affiliated to Changzhi Medical CollegeChangzhi 046000Shanxi ProvinceChina Faculty of Applied Sciences Macao Polytechnic UniversityMacao 999078China

BACKGROUND Non-ketotic hyperglycaemic(NKH)seizures are a rare neurological complication of diabetes caused by hyperglycaemia in non-ketotic and non-hyperosmotic *** clinical characteristics of NKH seizures are atypical and lack unified diagnostic criteria,leading to potential misdiagnoses in the early stages of the *** SUMMARY This report presents a rare case of NKH seizures in a 52-year-old male patient with a history of type 2 diabetes *** performed comprehensive magnetic resonance imaging(MRI)studies at admission,12 d post-admission,and 20 d *** imaging techniques included contrast-enhanced head MRI,T2-weighted imaging(T2WI),fluid-attenuated inversion recovery(FLAIR),diffusion-weighted imaging,susceptibility-weighted imaging,magnetic reso-nance spectroscopy(MRS),and magnetic resonance *** the time of admission,T2WI and FLAIR of the cranial MRI showed that the left parieto-occipital cortex had gyrus-like swelling and high signal,and subcortical stripes had low *** showed a reduced N-acetylaspartate peak and increased creatine and choline peaks in the affected areas.A follow-up MRI 20 d later showed that the swelling and high signal of the left parieto-occipital cortex had disappeared,and the low signal of the subcortex had *** This case study provides valuable insights into the potential pathogenesis,diagnosis,and treatment of NKH *** comprehensive MRI findings highlight the potential utility of various MRI sequences in diagnosing and characterizing NKH seizures.

关键词： Non-ketotic hyperglycaemia seizures Magnetic resonance imaging Magnetic resonance spectroscopy Diabetes Case report

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Assessment of biosafety implementation in clinical diagnostic laboratories in Pakistan during the COVID-19 pandemic

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Journal of Biosafety and Biosecurity 2022年第1期4卷 43-49页

作者： Samreen Sarwar Faheem Shahzad Ayesha Vajeeha Rimsha Munir Amina Yaqoob Aniqa Naeem Mamoona Sattar Sheereen Gull Health Security Partners LahorePunjabPakistan Department of Immunology University of Health Sciences LahorePunjabPakistan Centre for Applied molecular Biology University of the PunjabLahorePunjabPakistan Cancer Biology lab Institute of Microbiology and Molecular GeneticsUniversity of the Punjaband Molecular GeneticistHormone LabLahorePunjabPakistan Center of Excellence in molecular Biology University of the PunjabLahorePakistan Food and Meal Science Kristianstad UniversityKristianstadSweden Microbiological Engineering and Industrial Biotechnology Group College of ChemistryChemical Engineering and BiotechnologyDonghua UniversityShanghaiChina School of Biological Sciences University of the PunjabLahorePakistan

laboratory diagnostic capacity is crucial for an optimal national response to a public health emergency such as the COVID-19 *** laboratory-acquired infections and the loss of critical human resources,especially during a public health emergency,requires laboratories to have a good biorisk management system in *** this study,we aimed to evaluate laboratory biosafety and biosecurity in Pakistan during the COVID-19 *** this cross-sectional study,a self-rated anonymous questionnaire was distributed to laboratory professionals(LPs)working in clinical diagnostic laboratories,including laboratories performing polymerase chain reaction(PCR)-based COVID-19 diagnostic testing in Punjab,Sindh,Khyber Pakhtunkhwa,and Gilgit-Baltistan provinces as well as Islamabad during March 2020 to April *** questionnaire assessed knowledge and perceptions of LPs,resource availability,and commitment by top management in these *** total,58.6%of LPs performing COVID-19 testing reported that their laboratory did not conduct a biorisk assessment before starting COVID-19 testing in their *** 31%of LPs were aware that COVID-19 testing could be performed at a biosafety level 2 laboratory,as per the World Health Organization interim biosafety guidelines.A sufficiently high percentage of LPs did not feel confident in their ability to handle COVID-19 samples(32.8%),spills(43.1%),or other accidents(32.8%).These findings demonstrate the need for effective biosafety program implementation,proper training,and establishing competency assessment *** findings also suggested that identifying and addressing gaps in existing biorisk management systems through sustainable interventions and preparing LPs for surge capacity is crucial to better address public health emergencies.

关键词： Biosafety laboratory professionals COVID-19 pandemic

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Screening for arboviruses in healthy blood donors: Experience from Karachi, Pakistan

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Virologica Sinica 2022年第5期37卷 774-777页

作者： Moiz Ahmed Khan Kehkashan Imtiaz Humaira Shafaq Joveria Farooqi Mohammad Hassan Afia Zafar Maureen T.Long Kelli L.Barr Erum Khan Clinical Microbiology laboratory Department of Pathology&Lab MedicineAga Khan UniversityKarachi 74800Pakistan Blood Bank Haematology&Transfusion MedicineDepartment of Pathology&Lab MedicineAga Khan UniversityKarachi 74800Pakistan Comparative diagnostic and Population Medicine University of FloridaGainesville FL32611USA Center for Global Health and Infectious Disease Research University of South FloridaTampa FL33620USA

Dear Editor,Arboviruses of medical importance are maintained in nature in enzootic cycles between haematogenous vectors and susceptible vertebrate hosts(Huang et al.,2019).The rapid increase in human populations around the globe and the associated urbanization are creating irreversible damage to the ecosystem,giving rise to many problems including emergence and intensification of the vector borne diseases(Sutherst,2004).Among vector borne diseases,mosquito-borne arboviruses including dengue virus(DENV),West Nile virus(WNV),Japanese Encephalitis virus(JEV)and Zika virus(ZIKV)are rapidly emerging in the affected regions of the world(Palmer et al.,2011).

关键词： maintained irreversible Pakistan

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