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two cases of variant late infantile ceroid lipofuscinosis in Jordan

World Journal of Clinical Cases 2019年第2期7卷 203-208页

作者： omar Nafi Bashar Ramadan Olaf Riess Rebecca Buchert tawfiq Froukh Department of Pediatrics Faculty of Medicine Mutah University Institute of Medical Genetics and Applied Genomics Rare Disease Center University of Tübingen Department of Biotechnology and Genetic Engineering Philadelphia University

BACKGROUND Late infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition, and the clinical course consisted of delayed developmental skills initially and later regression of previously acquired skills. the cases were initially considered as childhood disintegrative disorder(CDD); however, when whole exome sequencing(WES) genetic testing was done, they proved to be variant late infantile ceroid lipofuscinosis. this is the first report from *** SUMMARY Clinical presentation included developmental delay and initially speech delay,followed by lose of sphincter control. Motor development was normal until 4 years of age, then they developed ataxia(fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures become intractable, and this was followed by inability to stand or sit and loss of expressive language. In addition to complete blood count test, liver function test, kidney function test, serum electrolyte test, and blood sugar test, serum amino acid profile, B12 level test,thyroid function test, and a brain computed tomography scan were also *** electroencephalogram showed a generalized spike and wave pattern, and magnetic resonance imaging showed little to no abnormalities. After dealing with the cases as CDD, WES testing proved a final diagnosis of variant late infantile ceroid lipofuscinosis. Current treatment is anti-epileptic drugs and supportive care at home, and they are now in vegetative *** this report highlights the importance of WES for the identification of genetic diseases, especially neurodegenerative disorders.

关键词： Ceroid lipofuscinosis Childhood disintegrative disorder Lysosomal storage disorders Neurodegenerative disorders Variant late infantile Case report

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Six forests in one:tree species diversity in the Bosque Protector Chongón Colonche,a lowland mountain range in coastal Ecuadorian

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Forest Ecosystems 2022年第6期9卷 725-733页

作者： Oswaldo Jadan David ADonoso Edwin Ponce-Ramírez Franz Pucha-Cofrep omar Cabrera Facultad de Ciencias Agropecuarias Universidad de Cuenca12 de Octubre y Diego de TapiaCuenca010107Ecuador Programa de Doctorado en Conservacion de Recursos Naturales Escuela Internacional de DoctoradoUniversidad Rey Juan CarlosMostolesMadridES-28933Spain Departamento de Biología Escuela Politecnica NacionalLadron de Guevara E11⋅253Quito170525Ecuador Geoforest S.A 12 de febrero y Av.Franklin VegaMacas140150Ecuador Grupo de Investigacion Hidrología y Climatología Universidad Tecnica Particular de LojaSan Cayetano Alto S/NLoja110101Ecuador Brandenburg University of technology(BtU)Cottbus-Senftenberg 03044CottbusGermany Departamento de Ciencias Biologicas y Agropecuarias Universidad Tecnica Particular de LojaSan Cayetano Alto S/NLoja110101Ecuador

tropical mountain ranges shape the structure of tree communities and promote highly diverse natural ***“Bosque Protector Chong on-Colonche”(BPCC),an 86,000-ha mountain formation situated on the coast of Ecuador,is biogeographically important for the region by connecting floristic elements of the wet Choco and the dry tumbesian *** understanding of the factors that model tree and palm diversity and distribution in this mountain range are *** measured and identified all trees and palms(DBH≥10 cm)in 289 plots of0.2 ha,distributed throughout *** used generalized linear models to explain the relationship between forest diversity and structure and climatic variables(temperature,rain,aridity),and *** then used cluster and non-metric multidimensional scale(NMDS)analyses to search for distinct forest communities within the *** partition(varpart)was used to determine which predictor variables best explained these distinct forest communities.A species indicator analysis identified the species most likely to define these distinct forest ***,we carried out a niche modeling approach to identify the potential distribution of these forest communities within *** total,we identified 220 tree and palm species in our *** average number of species per plot was 17.8±5.8,ranging from 3 to 40 *** methods sorted the 289study plots into six different forest communities,three communities in the dry forest and three in the semi-humid Garúa *** and temperature,but not altitude or aridity,explained floristic *** results emphasize the high but little cataloged diversity in the lowland mountain rainforests of coastal Ecuador.

关键词： Chongón-Colonche Climatic variables Dry forest Forest communities Garúa forest

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Erosion problem in tool steel using cold box core-making process

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China Foundry 2019年第3期16卷 204-210页

作者： Eduardo Rodríguez Alberto Pérez Rafael David Mercado-Solis Velasco-téllez Abraham omar Jimenez Martin Flores Marco Aurelio Gonzalez Jesus Ibarra Universidad de Guadalajara Departamento de Ingeniería de Proyectos/CUCEI CONACyT México Facultad de Ingeniería Mecánica y Eléctrica UANL México Nemak México S.A. García México Instituto tecnológico José Mario Molina Pasquel y Henríquez Unidad Zapopan México

this paper presents the erosion results of the AISI H13 steel impinged by resin-bonded silica sand, using a testing rig that closely simulates the real blowing conditions during industrial core-making. Steel specimens were heat treated to obtain hardness of 294, 445 and 595 HV200 (29, 45 and 55 HRC). Erosion tests were carried out at impingement angles from 20° to 90° and air drag pressures of 1.38, 2.07 and 2.76 bar (20, 30 and 40 psi). the main results are summarized as follows:(i) the harder material, the lower erosion;(ii) the maximum erosion rate is at 30°;(iii) Little difference in erosion rate at impact angle of 60° and 90° for a constant pressure tested regardless of the hardness level;(iv) As the pressure increases, so does the erosion rate, being more sensitive for low impact angles. Finally, a differential form of the general erosion equation is applied on a practical core-making case to evaluate the erosion rate of the H13 steel at 30° and 90° impingement angles.

关键词： erosion cold box core-making H13 tool steel resin coated silica sand

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Effect of Different Etching time on Fabrication of an Optoelectronic Device Based on GaN/Psi

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Journal of Renewable Materials 2023年第3期11卷 1101-1122页

作者： Haneen D.Jabbar Makram A.Fakhri Mohammed Jalal Abdul Razzaq omar S.Dahham Evan t.Salim Forat H.Alsultany U.Hashim Laser and Optoelectronic Engineering Department University of Technology-IraqBaghdadIraq Department of Civil Engineering College of EngineeringCihan University-ErbilKurdistan RegionIraq Department of Petroleum and Gas Refinery Engineering Al-Farabi University CollageBaghdadIraq Applied Science Department University of Technology-IraqBaghdadIraq Department of Medical Physics Al-Mustaqbal University CollegeBabylonIraq Institute of Nano Electronic Engineering University Malaysia PerlisKangarPerlisMalaysia

Gallium nitride(GaN)/porous silicon(PSi)film was prepared using a pulsed laser deposition method and 1064 nm Nd:YAG laser for optoelectronic applications and a series of Psi substrates were fabricated using a photoelectrochemical etching method assisted by laser at different etching times for 2.5–15 min at 2.5 min intervals.X-ray diffraction,room-temperature photoluminescence,atomic force microscopy and field emission scanning electron microscopy images,and electrical characteristics in the prepared GaN on the Psi film were *** optimum Psi substrate was obtained under the following conditions:10 min,10 mA/cm^(2),and 24%hydrofluoric *** substrate exhibited two highly cubic crystalline structures at(200)and(400)orientations and yellow visible band photoluminescence,and homogeneous pores formed over the entire *** pores had steep oval shapes and were accompanied by small dark pores that appeared topographically and *** GaN/Psi film fabricated through PLD exhibited a high and hexagonal crystallographic texture in the(002)*** properties results revealed that the photoluminescence emission of the deposited nano-GaN films was in the ultraviolet band(374 nm)related to GaN material and in the near-infrared band(730 nm)related to the Psi *** topographical and morphological results of the GaN films confirmed that the deposited film contained spherical grains with an average diameter of 51.8 nm and surface roughness of 4.8 *** GaN/Psi surface showed a cauliflower-like morphology,and the built-in voltage decreased from 3.4 to 2.7 eV after *** fabricated GaN/Psi film exhibited good electrical characteristics.

关键词： Gallium nitride porous silicon photoelectrochemical etching pulsed laser deposition optical device

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A case series of precipitous cardiac tamponade from suspected perimyocarditis in COVID-19 patients

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Journal of Geriatric Cardiology 2021年第5期18卷 403-406,I0002-I0004页

作者： William Kogler Michael omar Naji Maaliki Shaorinkumar Patel Sam Foldy Jose Ruiz Department of Internal Medicine University of Florida JacksonvilleJacksonvilleFLUSA Department of Cardiology University of Florida JacksonvilleFLUSA

A 71yearold well controlled hypertensive female presented on day 4 of acute COVID19 illness with atypical chest pain and worsening exertional *** examination,heart rate was 110 beats/min,blood pressure was 125/82 mmHg and there were decreased heart sounds with visible jugular venous *** was not in respiratory distress at rest and was not requiring supplemental *** radiography showed bilateral diffuse opacities(Figure 1).transthoracic echocardiography(ttE)confirmed a moderate pericardial effusion with right ventricular systolic compression,paradoxical right ventricular septal motion,enddiastolic right atrial collapse,and a plethoric inferior vena cava(IVC)with no respiratory *** ejection fraction(EF)was 55%.Initial workup revealed mildly elevated troponin t levels of 0.14 ng/mL,NtPro BNP of 2500 pg/mL.

关键词： hypertensive distress elevated

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Effect of Hepatitis C treatment on Renal Function in Liver transplant Patients

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Journal of Clinical and translational Hepatology 2018年第4期6卷 391-395页

作者： Mohamed Shoreibah John Romano Ornar t.Sims Yuqi Guo DeAnn Jones Krishna Venkata Vishnu Kommineni Jordan Orr Paul Fitzmorris omar I.Massoud Division of Gastroenterology&Hepatology School of MedicineUniversity of Alabama at BirminghamBirminghamALUSA Department of Internal Medicine School of MedicineUniversity of Alabama at BirminghamBirminghamALUSA Department of Social Work College of Arts and SciencesUniversity of Alabama at BirminghamBirminghamALUSA Department of Health Behavior School of Public HealthUniversity of Alabama at BirminghamBirminghamALUSA Center for AIDS Research School of MedicineUniversity of Alabama at BirminghamBirminghamALUSA School of Social Work University of AlabamaTuscaloosaALUSA Department of Pharmacology University of Alabama at BirminghamBirminghamALUSA Division of Gastroenterology and Hepatology Department of MedicineVanderbilt UniversityNashvilleTNUSA

Background andAims:Hepatitis C Virus(HCV)is uniformly recurrent after liver transplant(Lt)and recurrence is associated with an increased risk of *** medications increase the risk of chronic kidney disease,and the presence of chronic kidney disease presents a challenge for HCV treatment in Lt *** aim of this study was to assess changes in glomerular filtration rates(GFRs)of Lt recipients receiving HCV ***:this is a retrospective study of Lt patients who received HCV treatment between 2015 and 2016(n=60).the outcomes of interest were differences in serum creatinine levels and in GFR,measured at treatment initiation and at 24 weeks after *** average age of the patients was 59 years-old,and 17%were cirrhotic and 67%were *** patients received sofosbuvir/ledipasvir without ***:All patients achieved sustained virologic response at 12 weeks after treatment(SVR12).At baseline,55%of patients had GFRthose patients,GFR did not change in 18%,33%had improved GFR,and 48%had worsened *** to 45%of the patients had a GFR>60 mL/min per 1.73 *** those patients,GFR did not change in 81%,and 19%had worsened *** the entire cohort,65%of patients had improved or stable GFR and 35%had worsened *** average change in serum creatinine between baseline and 24 weeks was 0.10(p=0.18).Conclusions:this study showed improved or unchanged GFR in 65%and worsened GFR in 35%of Lt recipients who achieved *** of GFR was more frequently encountered in those with impaired renal function at *** should be used when treating HCV in Lt recipients,especially those with baseline status of renal impairment.

关键词： Hepatitis C Renal function Direct-acting antivirals Liver transplant treatment

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Risk assessment of venous thromboembolism in inflammatory bowel disease by inherited risk in a population-based incident cohort

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World Journal of Gastroenterology 2023年第39期29卷 5494-5502页

作者： Andrew S Rifkin Zhuqing Shi Jun Wei Siqun Lilly Zheng Brian t Helfand Jonathan S Cordova Vincent F Biank Alfonso J tafur omar Khan Jianfeng Xu Program for Personalized Cancer Care NorthShore University HealthSystemEvanstonIL 60201United States Department of Surgery NorthShore University HealthSystemEvanstonIL 60201United States Pritzker School of Medicine University of ChicagoChicagoIL 60637United States Department of Pediatrics NorthShore University HealthSystemEvanstonIL 60201United States Cardiovascular Institute NorthShore University HealthSystemEvanstonIL 60201United States Department of Medicine NorthShore University HealthSystemEvanstonIL 60201United States

Inflammatory bowel disease(IBD),including Crohn’s disease(CD)and ulcerative colitis(UC),is a chronic inflammatory disease of the digestive tract with increasing prevalence *** venous thromboembolism(VtE)is a major complication in IBD patients,it is often underappreciated with limited tools for risk *** to estimate the proportion of VtE among IBD patients and assess genetic risk factors(monogenic and polygenic)for *** Incident VtE was followed for 8465 IBD patients in the UK Biobank(UKB).the associations of VtE with F5 factor V leiden(FVL)mutation,F2 G20210A prothrombin gene mutation(PGM),and polygenic score(PGS003332)were tested using Cox hazards regression analysis,adjusting for age at IBD diagnosis,gender,and genetic background(top 10 principal components).the performance of genetic risk factors for discriminating VtE diagnosis was estimated using the area under the receiver operating characteristic curve(AUC).RESULtS the overall proportion of incident VtE was 4.70%in IBD patients and was similar for CD(4.46%),UC(4.49%),and unclassified(6.42%),and comparable to that of cancer patients(4.66%)who are well-known at increased risk for *** carriers of F5/F2 had a significantly increased risk for VtE compared to non-mutation carriers,hazard ratio(HR)was 1.94,95%confidence interval(CI):*** contrast,patients with the top PGS decile had a considerably higher risk for VtE compared to those with intermediate scores(middle 8 deciles),HR was 2.06(95%CI:1.57-2.71).the AUC for differentiating VtE diagnosis was 0.64(95%CI:0.61-0.67),0.68(95%CI:0.66-0.71),and 0.69(95%CI:0.66-0.71),respectively,for F5/F2 mutation carriers,PGS,and *** Similar to cancer patients,VtE complications are common in IBD *** provides more informative risk information than F5/F2 mutations(FVL and PGM)for personalized thromboprophylaxis.

关键词： Inflammatory bowel disease Venous thromboembolism Polygenic score Factor V leiden Prothrombin gene mutation

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Updated bone mineral density status in Saudi patients with inflammatory bowel disease

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World Journal of Gastroenterology 2020年第35期26卷 5343-5353页

作者： Mohammed Ewid Nawaf Al Mutiri Khalid Al omar Amal N Shamsan Awais A Rathore Nazmus Saquib Anas Salaas omar Al Sarraj Yaman Nasri Ahmed Attal Abdulrahman tawfiq Hossam Sherif Internal Medicine Department College of MedicineSulaiman Al Rajhi UniversityBukairyah 51941Al-QassimSaudi Arabia Internal Medicine Department Faculty of MedicineCairo UniversityCairo 11562Egypt Gastroenterology Department King Fahad Specialist HospitalBuraidah 52366Al-QassimSaudi Arabia Epidemiology Department College of MedicineSulaiman Al Rajhi UniversityBukairyah 51941Al-QassimSaudi Arabia Medical students College of MedicineSulaiman Al Rajhi UniversityBukairyah 51941Al-QassimSaudi Arabia Critical Care Medicine Department College of MedicineSulaiman Al Rajhi UniversityBukairyah 51941Al-QassimSaudi Arabia Critical Care Medicine Department Faculty of MedicineCairo UniversityCairo 11562Egypt

BACKGROUND Little is known about inflammatory bowel disease(IBD)burden and its impact on bone mineral density(BMD)among adult patients in Saudi *** the best of our knowledge,our study is the only study to give an update about this health problem in adult Saudi patients with *** is a great risk factor for reduced BMD due to its associated chronic inflammation,malabsorption,weight loss and medication side ***,screening for reduced BMD among patients with IBD is of utmost importance to curb and control anticipated morbidity and mortality among those *** to assess the relationship between IBD and BMD in a sample of adult Saudi patients with *** Ninety adult patients with IBD-62 Crohn’s disease(CD)and 28 ulcerative colitis(UC)-were recruited from King Fahad Specialist Hospital gastroenterology clinics in Buraidah,*** enrolled patients were interviewed for their demographic information and for IBD-and BMD-related clinical *** patients had the necessary laboratory markers and dual-energy x-ray absorptiometry scans to evaluate their BMD *** were divided into two groups(CD and UC)to explore their clinical characteristics and possible risk factors for reduced *** the CD group was significantly more prone to osteopenia and osteoporosis compared to the UC group;44%of the CD patients had normal BMD,19%had osteopenia,and 37%had osteoporosis,while 78%of the UC patients had normal BMD,7%had osteopenia,and 25%had osteoporosis(P valuethe CD group,the lowest t-score showed a statistically significant correlation with body mass index(BMI)(r=0.45,Pthe UC group,the lowest t-score showed only statistically significant correlation with the lumbar z-score(r=0.82,Pthe ROC-curve showed that low BMI could predict the lowest t-score in the CD group with the best cut-off value at≤23.43(m/kg2);area

关键词： Inflammatory bowel disease Crohn’s disease Ulcerative colitis Bone mineral density Osteoporosis Fracture risk

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Influence of Cu content on microstructure and mechanical properties of thixoformed Al-Si-Cu-Mg alloys

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transactions of Nonferrous Metals Society of China 2015年第11期25卷 3523-3538页

作者： M.S.SALLEH M.Z.omar Department of Mechanical and Materials Engineering Faculty of Engineering and Built Environment Universiti Kebangsaan Malaysia Department of Manufacturing Process Faculty of Manufacturing Engineering Universiti Teknikal Malaysia Melaka

the effects of Cu content on the microstructure and mechanical properties of thixoformed Al-6Si-xCu-0.3Mg(x= 3,4,5and 6,mass fraction,%) alloys were *** samples were thixoformed at 50%liquid content and several of the samples were treated with the t6 heat *** samples were then examined by optical microscopy(OM),scanning electron microscopy(SEM),energy dispersive X-ray(EDX) spectroscopy and X-ray diffraction(XRD) analysis,as well as hardness and tensile *** results show that the cooling slope casting and thixoforming process promote the formation of very fine and well distributed intermetallic compounds in the aluminium matrix and the mechanical properties of the alloys increase considerably compared with the permanent mould *** results also reveal that as the Cu content in the alloy increases,the hardness and tensile strength of the thixoformed alloys also *** ultimate tensile strength,yield strength and elongation to fracture of the thixoformed heat-treated Al-6Si-3Cu-0.3Mg alloy are 298 MPa,201 MPa and 4.5%,respectively,whereas the values of the thixoformed heat-treated alloy with high Cu content(6%) are 361 MPa,274 MPa and 1.1%,*** fracture of the thixoformed Al-6Si-3Cu-0.3Mg alloy shows a dimple rupture,whereas in the alloy that contains the highest Cu content(6%),a cleavage fracture is observed.

关键词： Al-Si-Cu-Mg alloy Cu content thixoforming t6 heat treatment mechanical properties

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Evaluation of activity of triclabendazole against taenia solium metacestode in naturally infected pigs

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Asian Pacific Journal of tropical Medicine 2016年第1期9卷 20-23页

作者： Ana Vargas-Calla Luis A.Gomez-Puerta Juan Calcina omar Gonzales-Viera Cesar Gavidia Maria t.Lopez-Urbina Hector H.Garcia Armando E.Gonzalez School of Veterinary Medicine Universidad Nacional Mayor de San Marcos Cysticercosis Elimination Program and Center for Global Heath tumbes Universidad Peruana Cayetano Heredia Department of Microbiology School of SciencesUniversidad Peruana Cayetano Heredia

Objective:to assess the efficacy of triclabendazole(tCBZ) in porcine ***:Eighteen naturally infected cysticercotic pigs were divided into 3 groups of 6 individuals *** first group was treated orally with tCBZ at a single dose of 30 mg/kg of body weight,the second group was treated orally with oxfendazole at a single dose of 30 mg/kg of body weight and the third group received a placebo(control group).All animals were kept under the same management *** pigs were euthanized 17 wk post-treatment and the number of surviving cysts in muscles was assessed and compared between ***:All pigs treated with oxfendazole had only degenerated cysts in their *** contrast,tCBZ had very little effect against the parasitic *** from pigs in the tCBZ group looked apparently normal after ***,histological evaluation showed a mild to moderate degree of ***:tCBZ is not an efficacious drug against taenia solium cysticercosis in swine using a single dose.

关键词： taenia solium Cysticercosis triclabendazole Oxfendazole treatment

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