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PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis

World Journal of Gastroenterology 2014年第33期20卷 11788-11792页

作者： Mario Pelaez-luna Guillermo Robles-Diaz Samuel Canizales-Quinteros maria t tusié-luna Research Division School of Medicine UNAM Pancreas Clinic-Gastroenterology Department Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City CP 14000 Mexico maria t tusié-luna Unit of Molecular Biology and Genomic Medicine Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City CP 14000 Mexico

AIM: to identify gene mutations in PRSS1 and SPINK1 in individuals with early onset idiopathic chronic or recurrent acute pancreatitis.MEtHODS: the cationic trypsinogen gene(PRSS1; exons 2 and 3) and the serine protease inhibitor Kazal 1 gene(SPINK1; exon 3) were selectively amplified and sequenced from blood samples of 19 patients admitted to the Pancreas Clinic at our institution with chronic pancreatitis and/or idiopathic recurrent acute pancreatitis that were diagnosed or with onset before age 35. Fifty healthy volunteers served as controls. Whole blood samples were collected and gene specific sequences were amplified by polymerase chain reaction(PCR). All PCR products were subsequently sequenced in order to identify the presence of any mutations.RESULtS: Nineteen patients with pancreatitis(14 males; median age 24 years, range 15-48 years) were included in this study, of which five showed the presence of gene mutations. Direct sequencing results indicated the presence of two previously unidentified mutations in exon 2 of PRSS1(V39E and N42S) in two patients with recurrent acute pancreatitis. two cases had the N34 S SPINK1 mutation. Analysis of the relatives of one patient homozygous for this mutation showed that five of the six family members carried the N34 S SPINK1 mutation. Of these members, three were healthy heterozygous carriers and two were homozygotes(one sibling had diabetes, the other was healthy). Another patient was heterozygous for a novel SPINK1 mutation located on exon 3(V46D). All members from this patient's family had normal genotypes, indicating that it was a de novo mutation. No mutations in either gene were present in the control subjects. CONCLUSION: two novel PRSS1 mutations and one novel SPINK1 mutation were identified in Mexican patients with early onset idiopathic recurrent acute pancreatitis.

关键词： Cationic trypsinogen SPINK1 PRSS1 Chronic pancreat

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An integrated spatial planning of the mountainous landscapes for ski sports in a case area at the eastern türkiye

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Journal of Mountain Science 2024年第3期21卷 754-767页

作者： SAtIR Onur tOSUN Busra COSKUN OZYOL Funda OZDEMIR Omer Faruk BERBEROGLU Suha Dept.of Landscape Architecture Van Yuzuncu Yil UniversityVan 65090Türkiye School of Physical Education&Sports Van Yuzuncu Yil UniversityVan 65090Türkiye Van Yuzuncu Yil University Dept.of Architecture&Urban Planning Van 65090Türkiye Dept.of Remote Sensing&GIS Cukurova UniversityAdana 01330Türkiye

Mountainous regions have disadvantages in economic development because of harsh physical and climatic conditions.However,winter tourism activities are one of the key components for supporting economic development in the highlands.Establishing a ski resort area supports direct and indirect employment in a region,and it stops immigration from mountainous regions to other places.this research aimed to assess the potential ski areas using a multi criteria evaluation technique in the Van region which is located in the eastern part of türkiye.In this context,snow cover duration,sun effect,slope,slope length,elevation,population density,distance from main roads and lake visibility were used as input factors in the decision making process.Each factor was standardized using a fuzzy technique based on existing well-known ski centers in türkiye.the weight of inputs was defined by applying a survey to the professional skiers.the most important factors were detected as transportation opportunities and snow covers whereas,the least important factors were elevation and population density.Additionally,lake visibility was very important to make a difference from other existing facilities in the region.therefore,it was included as constraints and lake visible areas were extracted at the final stage of the research.Potential ski areas were mapped in three levels as professional,intermediate and beginner skiers.One of the suitable areas was selected as a sample projection and for the 3D simulation of the ski investment area.Potential costs and benefits were discussed.It was found that a ski tourism area investment can be amortized in 3 years in the region.

关键词： Winter sports and tourism Decision making 3D simulation and modelling Landscape planning GIS

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Geomorphological responses of rivers to active tectonics along the Karahay?t Fault, Western türkiye

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Journal of Mountain Science 2024年第5期21卷 1464-1474页

作者： Savaş tOPAL Pamukkale University Department of Geological EngineeringKınıklıCampusDenizli 20160Türkiye

Understanding the topography in active tectonic areas and assessing the rates and models of active deformation in the upper crust are primary objectives in tectonic geomorphology studies. the drainage pattern of river systems is highly sensitive to tectonically induced changes, and it often preserves the records of the formation and progression of most tectono-geomorphic processes within its boundaries. therefore, the evolution of landforms is a consequence of the evolution of individual drainage basins in which they are formed. Assessing the rates of tectonic deformation using geomorphic data is a traditionally adopted method to characterize the nature of active faults. Globally, the Digital Elevation Model(DEM) is widely used as a crucial tool to analyze the morphotectonic features of drainage basins. In this study, some geomorphic indices were applied to investigate the impact of tectonism on landscape along the Karahay?t Fault and its associated drainage areas. these geomorphic indices are mountain front sinuosity(Smf values between 1.17-1.52), valley floor width-to-height ratio(Vf values between 0.25-1.46), basin asymmetry factor(AF values between 15-72), drainage basin shape(Bs values between 3.18-6.01), hypsometric integral and curve(HI values between 0.32-047), channel sinuosity(S values between 1-1.6), normalized steepness index(Ksn values between 1-390) and Chi integral(χ values between 200-4400). the development of drainage areas on the hanging wall and footwall block of the Karahayit Fault differs depending on the uplift. the drainage areas developed on the hanging wall present different patterns depending on the regional uplift caused by the fault. this reveals that the fault contributed significantly to the development of drainage areas and regional uplift in the region. In addition, the maximum earthquake magnitude that may occur in the future on the Karahayit Fault, whose activity is supported by geomorphic indices, is calculated as 6.23. Since an earthquake of this magnitude may cause loss of lif

关键词： Drainage basins Geomorphic indices Normalized steepness index(Ksn) Chi integral(χ) Morphotectonic features Karahayıt Fault

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Changes in snow cover extent in the Central taurus Mountains from 1981 to 2021 in relation to temperature, precipitation, and atmospheric teleconnections

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Journal of Mountain Science 2024年第1期21卷 49-67页

作者： Ecmel ERLAt Fulya AYDIN-KANDEMİR Department of Geography Ege UniversityIzmir 35100Türkiye Climate Change and Zero Waste Department Antalya Metropolitan MunicipalityAntalya 07310Türkiye Hydropolitics Association Ankara 06680Türkiye

the snow cover over the taurus Mountains affects water supply, agriculture, and hydropower generation in the region. In this study, we analyzed the monthly Snow Cover Extent(SCE) from November to April in the Central taurus Mountains(Bolkar, Aladaglar, tahtali and Binboga Mountains) from 1981 to 2021. Linear trends of snow cover season(November to April) over the last 41 years showed decreases in SCE primarily at lower elevations. the downward trend in SCE was found to be more pronounced and statistically significant for only November and March. SCE in the Central taurus Mountains has declined about-6.3% per decade for 2500-3000 m in November and about-6.0% per decade for 1000-1500 m and 3000+ m in March over the last 41 years. the loss of SCE has become evident since the 2000s, and the lowest negative anomalies in SCE have been observed in 2014, 2001, and 2007 in the last 41 years, which are consistent with an increase in air temperature and decreased precipitation. SCE was correlated with both mean temperature and precipitation, with temperature having a greater relative importance at all elevated gradients. Results showed that there is a strong linear relationship between SCE and the mean air temperature(r =-0.80) and precipitation(r = 0.44) for all elevated gradients during the snow season. the Arctic Oscillation(AO), the North Atlantic Oscillation(NAO), and the Mediterranean Oscillation(MO) winter indices were used to explain the year-to-year variability in SCE over the Central taurus Mountains. the results showed that the inter-annual variability observed in the winter SCE on the Central taurus Mountains was positively correlated with the phases of the winter AO, NAO and MO, especially below 2000 m elevation.

关键词： Snow cover extent Atmospheric teleconnection Central taurus Mountains Air temperature and precipitation Geographic Information Systems türkiye

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Duplicated gallbladder with acute cholecystitis:a case of unusual presentation and diagnostic challenges

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World Journal of Emergency Medicine 2024年第2期15卷 156-158页

作者： Eren Ogut Fatos Belgin Yildirim Osman Memis Department of Anatomy Istanbul Medeniyet University Faculty of MedicineIstanbul 34722Türkiye Department of Anatomy Akdeniz University Faculty of MedicineAntalya 07070Türkiye Department of General Surgery Manavgat State HospitalAntalya 07060Türkiye

Anomalies in the gallbladder can lead to misidentifying anatomical structures,heightening the risk of complications in laparoscopic and open cholecystectomy procedures.Failure to recognize these variations increases t... 详细信息

关键词： gallbladder injuries cholecystitis

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Approximate contact solutions for non-axisymmetric homogeneous and power-law graded elastic bodies:A practical tool for design engineers and tribologists

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Friction 2024年第2期12卷 340-355页

作者： Valentin L.POPOV Qiang LI Emanuel WILLERt Institute of Mechanics Technische Universität BerlinBerlin 10623Germany

In two recent papers,approximate solutions for compact non-axisymmetric contact problems of homogeneous and power-law graded elastic bodies have been suggested,which provide explicit analytical relations for the force–approach relation,the size and the shape of the contact area,as well as for the pressure distribution therein.these solutions were derived for profiles,which only slightly deviate from the axisymmetric shape.In the present paper,they undergo an extensive testing and validation by comparison of solutions with a great variety of profile shapes with numerical solutions obtained by the fast Fourier transform(FFt)-assisted boundary element method(BEM).Examples are given with quite significant deviations from axial symmetry and show surprisingly good agreement with numerical solutions.

关键词： normal contact non-axisymmetric indenter extremal principle generalized method of dimensionality reduction(MDR) functional elastic grading

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K^(+) channel-mediated retarded maturation of interneurons and its role in neurodevelopmental disorders

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Neural Regeneration Research 2024年第7期19卷 1403-1404页

作者： Kaizhen Li Daria Savitska Olga Garaschuk Laboratory of Systems Neuroscience Department of PhysiologyUniversity of BernBernSwitzerland Institute of Physiology Department of NeurophysiologyEberhard Karls University of TübingenTübingenGermany

De novo mutations in genes encoding K^(+)channels are implicated in many severe neurodevelopmental disorders.Specifically,mutations in KCNA2,encoding the Shaker-type voltage-gated K^(+)channel Kv1.2,and KCNJ2,encoding the inwardly rectifying K^(+)channel Kir2.1,associate with focal and generalized epilepsies,brain atrophy,autism,ataxia and hereditary spastic paraplegia(Syrbe et al.,2015;Masnada et al.,2017;Cheng et al.,2021).

关键词： disorders atrophy

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A simulation study on spatial and time resolution for a cost-effective positron emission particle tracking system

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Particuology 2024年第5期88卷 312-322页

作者： Josephine Oppotsch Matthias Steinke Miriam Fritsch Fritz-Herbert Heinsius thomas Held Nikoline Hilse Viktor Scherer Ulrich Wiedner Ruhr-Universität Bochum Institut für Experimentalphysik I44801 BochumGermany Ruhr-Universität Bochum Lehrstuhl für Energieanlagen und Energieprozesstechnik44801 BochumGermany

this work is the second part of a simulation study investigating the processing of densely packed and moving granular assemblies by positron emission particle tracking (PEPt).Since medical positron emission tomography (PEt) scanners commonly used for PEPt are very expensive,a PEt-like detector system based on cost-effective organic plastic scintillator bars is being developed and tested for its capabilities.In this context,the spatial resolution of a resting positron source,a source moving on a freely designed model path,and a particle motion given by a discrete element method (DEM) simulation is studied using Monte Carlo simulations and the software toolkit Geant4.this not only extended the simulation and reconstruction to a moving source but also significantly improved the spatial resolution compared to previous work by adding oversampling and iteration to the reconstruction algorithm.Furthermore,in the case of a source following a trajectory developed from DEM simulations,a very good resolution of about 1 mm in all three directions and an average 3D deviation between simulated and reconstructed events of 2.3 mm could be determined.thus,the resolution for realistic particle motion within the generic grate system (which is the test rig for further experimental studies) is well below the smallest particle size.the simulation of the dependence of the reconstruction accuracy on tracer particle location revealed a nearly constant efficiency within the entire detector system,which demonstrates that boundary effects can be neglected.

关键词： Positron emission particle tracking Monte Carlo method time-of-flight Plastic scintillators Silicon photomultipliers(SiPMs)

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A simulation study for a cost-effective PEt-like detector system intended to track particles in granular assemblies

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Particuology 2024年第1期84卷 117-125页

作者： Josephine Oppotsch Antonios Athanassiadis Miriam Fritsch Fritz-Herbert Heinsius thomas Held Nikoline Hilse Viktor Scherer Matthias Steinke Ulrich Wiedner Ruhr-Universität Bochum Institut für Experimentalphysik I44801 BochumGermany Ruhr-Universität Bochum Lehrstuhl für Energieanlagen und Energieprozesstechnik44801 BochumGermany

Since many industrial applications rely on the processing of densely packed and moving granular ma-terial,obtaining bulk internal information on the particle movement inside the reactors is of great importance.Such information can be delivered by Positron Emission Particle tracking(PEPt).By marking pellets with a positron-emitting radioisotope,the position of these tracer particles can be determined via the time-of-flight differences of the emitted gamma-ray pairs.the current paper proposes a PEt-like detector system based on cost-effective organic plastic scintillators instead of the more common but expensive inorganic scintillators.this system is currently under construction and was tested for its resolution and efficiency in this simulation study.Using Monte Carlo simulations and the software toolkit Geant4,three different geometries(an empty glass box,a generic grate system,and a cubic box of 1 m3 completely filled with pellets)were investigated,leading to a spatial resolution in the millimeter range and an efficiency,defined as the ratio of reconstructed decay locations to simulated decays,of 2.7%,1.4%,and 0.3%.

关键词： Positron emission particle tracking Geant4 Monte Carlo method time-of-flight Plastic scintillators Silicon photomultipliers(SiPMs)

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Prognostic factors and clinical features of rhino-orbitalmucormycosis cases:an update for patient and visual survivals

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International Journal of Ophthalmology(English edition) 2024年第5期17卷 916-923页

作者： Mustafa Aksoy Altan Atakan Ozcan Burak Ulas Department of Ophthalmology Cukurova University Faculty of MedicineSaricamAdana 01330Türkiye

AIM:to determine the frequency of patients’vision survival and prognostic factors and evaluate clinical features in rhino-orbital mucormycosis.MEtHODS:Forty-three eyes of 43 patients followed up with orbital mucormycosis infections were included in the study.Demographic characteristics of the patients,symptoms at admission,ophthalmologic and non-ophthalmologic examination findings,clinical findings during follow-up,medical and surgical procedures,and complications were recorded.Patient survival was determined by assessing the incidence of mortality,and vision survival was defined as achieving a final visual acuity of at least light perception.RESULtS:twenty-seven(62.8%)patients were male,and 16(37.2%)were female.When the underlying disease status of the patients was examined,it was observed that all patients had an underlying disease and diabetes constituted the majority(65.2%).Periorbital swelling(69.8%)and ophthalmoplegia(53.5%)were the most common symptoms and findings at the admission of patients with mucormycosis infection.the disease resulted in death in 22(51.2%)patients.the presence of fever and shorter duration of antifungal therapy were associated with lower patient survival.Exenteration surgery was not found to be associated with the survival of the patients.Frozen eye,loss of pupillary light reflex,and development of central retinal artery occlusion were associated with lower vision survival.CONCLUSION:this study presents one of the most extensive patient series in the literature on rhino-orbital mucormycosis.Knowing the patients’symptoms at the time of admission and the clinical findings during the infection process will increase awareness about the disease.

关键词： mucormycosis rhino-orbital-mucormycosis orbital apex syndrome retinal arterial occlusion

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