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Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula:A case report and review of literature

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World Journal of Clinical Cases 2020年第8期8卷 1477-1488页

作者： Abdullah Al-Ajmi Sarah Shamsah Aleksandar Janicijevic Michayla Williams Fahd Al-Mulla Neurology Unit Al-Jahra HospitalJahra City 13110Kuwait Faculty of Allied Health Sciences Kuwait UniversityKuwait City 13110Kuwait Department of radiology Al-Jahra HospitalJahra City 13110Kuwait Department of Genetics Genatak Center for Genomic MedicineKuwait City 12000Kuwait

BACKGROUND Familial cases of autosomal recessive spastic ataxia of charlevoix-saguenay have not been reported in the Arabian Peninsula,although the consanguineous marriage rate is very *** report the first family from the Arabian Peninsula harboring a novel frameshift mutation in the SACS *** SUMMARY A 33-year-old man presented to our neurology clinic with balance problems and weakness of distal upper and lower *** was previously clinically diagnosed with Friedreich's ***,the severity of polyneuropathy and the electrodiagnostic studies(EDX)findings are atypical features of Friedreich’s ataxia,and the deterioration was attributed to diabetic *** examination of other family members identified cerebellar ataxia,lower-limb pyramidal signs,peripheral neuropathy,and magnetic resonance imaging findings characterized by pontine linear *** testing for Friedreich’s ataxia did not yield a *** exome sequencing identified a novel frameshift germline mutation in the SACS gene termed c.5824_5827delTACT using the transcript NM_014363.5,which is predicted to cause premature termination of the sacsin protein at amino acid position 1942(***1942Metfs*9)and disrupts the sacsin SRR3 and domains downstream from *** mutation segregated with the disease in the *** Our data add to the spectrum of mutations in the SACS gene and argues for a need to implement suitably integrated clinical and diagnostic services,including next generation sequencing technology,to better classify ataxia in this area of the world.

关键词： Ataxia Autosomal recessive spastic ataxia of charlevoix-saguenay Sacsin SACS mutation Arabia Next generation sequencing Case report

Cardiac adverse events of immune checkpoint inhibitors in oncology patients:A systematic review and meta-analysis

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World Journal of Cardiology 2020年第11期12卷 584-598页

作者： Nso Nso Daniel Antwi-Amoabeng Bryce D Beutler Mark B Ulanja Jasmine Ghuman Ahmed Hanfy Joyce Nimo-Boampong Sirri Atanga Rajkumar Doshi Sostanie Enoru Nageshwara Gullapalli Department of Medicine Icahn School of Medicine at Mount SinaiQueensNY 10029United States Department of Internal Medicine University of NevadaReno School of MedicineRenoNV 89502United States Department of radiology University of Southern CaliforniaKeck School of MedicineLos AngelesCA 90033United States Department of Internal Medicine Warren Alpert Medical School of Brown UniversityProvidenceRI 02903United States Department of Medicine United Health Services Wilson Medical CenterJohnson CityNY 13790United States Department of Cardiovascular Disease SUNY Downstate Health Science UniversityBrooklynNY 11203United States

BACKGROUND Immune checkpoint inhibitors(ICIs)are novel therapeutic agents used for various types of *** have revolutionized cancer treatment and improved clinical outcomes among cancer ***,immune-related adverse effects of ICI therapy are *** immune-related adverse events(irAEs)are rare but potentially life-threatening *** To estimate the incidence of cardiovascular irAEs among patients undergoing ICI therapy for various *** We conducted this systematic review and meta-analysis by searching PubMed,Cochrane CENTRAL,Web of Science,and SCOPUS databases for relevant interventional trials reporting cardiovascular *** performed a single-arm meta-analysis using OpenMeta[Analyst]software of the following outcomes:Myocarditis,pericardial effusion,heart failure,cardiomyopathy,atrial fibrillation,myocardial infarction,and cardiac *** assessed the heterogeneity using the I2 test and managed to solve it with Cochrane’s leave-one-out *** risk of bias was performed with the Cochrane’s risk of bias *** A total of 26 studies were *** incidence of irAEs follows:Myocarditis:0.5%[95%confidence interval(CI):0.1%-0.9%];Pericardial effusion:0.5%(95%CI:0.1%-1.0%);Heart failure:0.3%(95%CI:0.0%-0.5%);Cardiomyopathy:0.3%(95%CI:-0.1%-0.6%);atrial fibrillation:4.6%(95%CI:1.0%-14.1%);Myocardial infarction:0.4%(95%CI:0.0%-0.7%);and Cardiac arrest:0.4%(95%CI:0.1%-0.8%).CONCLUSION The most common cardiovascular irAEs were atrial fibrillation,myocarditis,and pericardial *** rare,data from post market surveillance will provide estimates of the long-term prevalence and prognosis in patients with ICIassociated cardiovascular complications.

关键词： Atrial fibrillation Cancer Immune checkpoint inhibitors Immunotherapy Cardiovascular adverse events Pericardial effusion

COVIDX: Computer-aided diagnosis of COVID-19 and its severity prediction with raw digital chest X-ray scans

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Quantitative Biology 2022年第2期10卷 208-220页

作者： Wajid Arshad Abbasi Syed Ali Abbas Saiqa Andleeb Maryum Bibi Fiaz Majeed Abdul Jaleel Muhammad Naveed Akhtar Computational Biology and Data Analysis Lab Department of Computer Sciences&Information TechnologyKing Abdullah CampusUniversity of Azad Jammu&KashmirMuzaffarabadAJ&K 13100Pakistan Biotechnology Lab Department of ZoologyKing Abdullah CampusUniversity of Azad Jammu&KashmirMuzaffarabadAJ&K 13100Pakistan Department of Software Engineering University of GujratGujrat 50700Pakistan Department of Computer Science (RCET)UETLahore 54000Pakistan Computational and Internet services Division Pakistan Institute of Engineering and Applied Sciences(PIEAS)Islamabad 44000Pakistan

Background: Coronavirus disease (COVID-19) is a contagious infection caused by severe acute respiratory syndrome coronavirus-2 (SARS-COV-2) and it has infected and killed millions of people across the ***: In the absence or inadequate provision of therapeutic treatments of COVID-19 and the limited convenience of diagnostic techniques, there is a necessity for some alternate spontaneous screening systems that can easily be used by the physicians to rapidly recognize and isolate the infected patients to circumvent onward surge. A chest X-ray (CXR) image can effortlessly be used as a substitute modality to diagnose the ***: In this study, we present an automatic COVID-19 diagnostic and severity prediction system (COVIDX) that uses deep feature maps of CXR images along with classical machine learning algorithms to identify COVID-19 and forecast its severity. The proposed system uses a three-phase classification approach (healthy vs unhealthy, COVID-19 vs pneumonia, and COVID-19 severity) using different conventional supervised classification ***: We evaluated COVIDX through 10-fold cross-validation, by using an external validation dataset, and also in a real setting by involving an experienced radiologist. In all the adopted evaluation settings, COVIDX showed strong generalization power and outperforms all the prevailing state-of-the-art methods designed for this ***: Our proposed method (COVIDX), with vivid performance in COVID-19 diagnosis and its severity prediction, can be used as an aiding tool for clinical physicians and radiologists in the diagnosis and follow-up studies of COVID-19 infected ***: We made COVIDX easily accessible through a cloud-based webserver and python code available at https://***/view/wajidarshad/software and https://***/wajidarshad/covidx, respectively.

关键词： coronavirus COVID-19 radiology machine learning chest X-ray contagious infection

Impact of adjustment measures on reducing outpatient waiting time in a community hospital： application of a computer simulation

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Chinese Medical Journal 2010年第5期123卷 574-580页

作者： CHEN Bai-lian LI En-dong Kazunobu Yamawuchi Ken Kato Shinji Naganawa MIAO Wei-jun Department of Medical Information and Management Science Graduate School of Medicine Nagoya University 65 Tsurumai-cho Showa-ku Nagoya Japan Department of radiology Graduate School of Medicine Nagoya University 65 Tsurumai-cho Showa-ku Nagoya Japan Scientific Research Management Department Second Affiliated Hospital of Guangzhou Medical University Guangzhou Guangdong 510260 China

Background As an important determinant of patient satisfaction, waiting time, has gained increasing attention in the field of health care services. The present study aimed to illustrate the distribution characteristics of waiting time in a community hospital and explore the impact of potential measures to reduce outpatient waiting time based on a computer simulation approach. Methods Dudng a one-month study period in 2006, a cross-sectional study was conducted in a community hospital located in Shanghai, China. Baseline data of outpatient waiting time were calculated according to the records of registration time and payment time. A simulation technique was adopted to investigate the impact of perspective reform methods on reducing waiting time. Results Data from a total of 10 092 patients and 26 816 medical consultations were collected in the study and 19 947 medical consultations were included. The average of the total visit time for outpatients in this hospital was 43.6 minutes in the morning, 19.1 minutes in the afternoon, and 34.3 minutes for the whole day studied period. The simulation results suggested that waiting time for outpatients could be greatly reduced through the introduction of appointment system and flexible demand-orientated doctor scheduling according to the numbers of patients waiting at different time of the workday. Conclusion Adoption of an appointment system and flexible management of doctor scheduling may be effective way to achieve decreased waiting time.

关键词： waiting time outpatient appointment system

Human rabies encephalomyelitis in the background of rabies outbreak in animals in Gelephu,Bhutan,2023:a case report

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Infectious Diseases of Poverty 2023年第5期12卷 102-102页

作者： Thinley Dorji Jeewanath Lamichaney Choeda Gyaltshen Lungten Lungten Guru Prasad Dhakal Sithar Dorjee Mimi Lhamu Mynak Department of Internal Medicine Central Regional Referral Hospital Gelephu Bhutan Regional Veterinary Hospital and Epidemiology Centre Gelephu Bhutan Faculty of Postgraduate Medicine Khesar Gyalpo University of Medical Sciences of Bhutan Thimphu Bhutan Office of the President Khesar Gyalpo University of Medical Sciences of Bhutan Thimphu Bhutan Office of the President National Medical Services Ministry of Health Thimphu Bhutan

Background Rabies continues to pose significant public health challenges in many developing countries including Bhutan.A probable case of rabies was admitted to our hospital and its reporting led to the uncovering of an outbreak in domestic and wild *** discuss the challenges in the diagnosis and management of rabies in a resource-limited *** presentation A 35-year-old male presented with intermittent fever,bilateral lower limb weakness that was rapidly progressive,urinary incontinence with episodes of palpitations and *** had sustained a Category III bite on the right lower thigh with four bite marks,inflicted by a stray *** had received post-exposure prophylaxis with intra-dermal anti-rabies *** initial examination,the patient was in distress but cooperative for the *** had pulse rate ranging from 60 to 100/min with episodes of diaphoresis and palpitations,but with normal capillary blood *** the lower limb,the muscle power was zero with absent tendon reflexes in the lower limb and impaired abdominal reflex below T10 *** had hyperaesthesia below T8,hydrophobia,aerophobia and *** had multiple spontaneous fasciculations in both the thighs and right deltoid and these later involved the intercostal muscles,neck and face *** had altered sensorium and desaturation for which he required mechanical *** chain reaction for rabies virus was negative in cerebrospinal fluid and *** virus neutralizing antibody was negative in cerebrospinal fluid but had high titres in the *** received Human Rabies Immunoglobulin after *** was managed in the intensive care unit and died 23 days *** this case was notified,a rapid response team was deployed in the field,and uncovered rabies outbreak in animals in the *** This case called for a serious evaluation of the country’s efforts in achieving zero rabies deaths by *** management of this case identi

关键词： Rabies Outbreak Encephalitis Lyssavirus Myelitis Neglected diseases One Health Tropical medicine

经颈静脉肝内门体静脉分流术治疗难治性腹水的肝硬化病人:使用8mm和10mm PTFE覆膜支架的临床预后比较

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国际医学放射学杂志 2017年第5期 593-594页

作者： R.Miraglia L.Maruzzelli F.Tuzzolino I.Petridis M.D'Amico A.Luca 张小琨 Department of Diagnostic and Therapeutic services

摘要目的比较对连续的难治性腹水(RA)的肝硬化病人分别使用8 mm和10 mm聚四氟乙烯(PTFE)覆膜支架行经颈静脉肝内门体静脉分流(TIPS)的疗效和并发症。材料与

关键词：肝硬化覆膜支架颈静脉难治性

Diagnostic challenges in Salla disease

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Open Journal of Genetics 2013年第2期3卷 46-49页

作者： Jessica N. Hartley Michael S. Salman Frances A. Booth Lorne Seargeant David A. Wenger Jens Wrogemann Aizeddin A. Mhanni Department of Biochemistry and Medical Genetics University of Manitoba Winnipeg Canada Program of Genetics and Metabolism Winnipeg Canada Department of Biochemistry and Medical Genetics University of Manitoba Winnipeg Canada Program of Genetics and Metabolism Winnipeg Canada Department of Pediatrics and Child Health University of Manitoba Winnipeg Canada Department of Pediatrics and Child Health University of Manitoba Winnipeg Canada Diagnostic Services Manitoba University of Manitoba Winnipeg Canada Department of Pediatrics and Child Health University of Manitoba Winnipeg Canada Section of Pediatric Neurology University of Manitoba Winnipeg Canada Department of radiology Section of Pediatric Radiology University of Manitoba Winnipeg Canada Lysosomal Diseases Testing Laboratory Thomas Jefferson University Philadelphia USA

Sialic acid storage disease (Salla disease) is an autosomal recessive disorder caused by mutations in a lysosomal sialic acid export protein, SLC17A5 (OMIM #604369). This disorder was initially described in Northern Finland but more recently has been reported in patients of other ethnicities. We describe the clinical presentation and the neuroimaging findings of two non-Finnish children where a diagnosis of Salla disease was suspected on the basis of brain magnetic resonance imaging. The biochemical confirmation of this diagnosis posed a challenge as both patients had elevated percent free urine sialic acid but biochemical analyses in fibroblasts were not conclusive;therefore, molecular testing was necessary for confirmation of the diagnosis. The described encounters demonstrate the importance of pursuing confirmatory molecular diagnostic testing when a sialic acid storage disorder is suspected.

关键词： Sialic Acid Salla Disease Lysosomal SLC17A5

弹道解剖模型的CT弹道创伤路径识别及轨迹分析

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国际医学放射学杂志 2011年第3期 282-282页

作者： L.R.Folio T.V.Fischer P.J.Shogan M.I.Frew R.Bunger 庞国栋 Departments of radiology Uniformed Services University of the Health Sciences

目的确定实际射击角度与影像存储和传输系统(PACS)的角度测量工具测量轨道角度及由射击入口、出口点x,y,z坐标计算的角度的一致性,由此评价模型CT弹道创伤

关键词：弹道 PACS 创伤 CT 角度测量工具路径识别

Outcomes of Thyroid Surgery at Niamey National Hospital

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Surgical Science 2021年第7期12卷 218-225页

作者： Lassey James Didier Maman Bachir Abdoulaye Ousseini Adakal Harissou Adamou Adama Saidou Ibrahim Amadou Magagi Kadi Idé Moussa Gagara Maarouf Malam Taher Sidibé Rachid Sani Department of Surgery and Surgical Specialties National Hospital of Niamey Faculty of Health Sciences of the University Abdou Moumouni Niamey Niger Department of Surgery and Surgical Specialties Faculty of Health Sciences of the University of Maradi Maradi Niger Department of Surgery and Surgical Specialties Zinder National Hospital Faculty of Health Sciences of the University of Zinder Zinder Niger Department of Anesthesia Intensive Care and Emergencies Niamey National Hospital Niamey Niger Maternity Issaka Gazobi Gynecology and Obstetrics Services Niamey Niger radiology Department at Niamey National Hospital Niamey Niger

Introduction: Goiter is the most common endocrine disease in the world. The objective of our study is to assess and compare the morbidity linked to the surgical management of goiters and thyroid tumors in the general surgery department of the Niamey National Hospital. Result: We collected data on a prospective basis on 112 cases having undergone a thyroidectomy between March 2019 and April 2020. The female sex is predominant with 96.4%, i.e. a sex ratio of 0.037. The average age is 41.2 years with extremes ranging from 22 to 72 years old. The average duration of evolution of goiter is 7.5 years with extremes ranging from 5 months to 20 years old. The first reason for consultation is anterior cervical swelling. TSH testing confirmed euthyroidism in 107 patients (95.5%). Therapeutically, loboisthmectomy is the most performed procedure with 43.7%. The postoperative hormonal assessment revealed 32% hypothyroidism at 6 months, with a significant difference for cases of total thyroidectomy. The occurrence of postoperative hypocalcemia was significantly greater after total and subtotal thyroidectomy. There is no significant difference in terms of recurrent complications. Conclusion: Thyroidectomies must be performed after adequate preparation and information to the patient on possible postoperative complications, hence the need for close medical monitoring immediately and remotely.

关键词： Goiter Thyroidectomy Complications Niamey Niger