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Monogenic features of urolithiasis: A comprehensive review

Asian Journal of Urology 2024年第2期11卷 169-179页

作者： Kyo Chul Koo Abdulghafour Halawani Victor K.F.Wong dirk lange Ben H.Chew Department of Urology Yonsei University College of MedicineSeoulRepublic of Korea Department of Urology King Abdulaziz UniversityJeddahSaudi Arabia Department of Urological Sciences University of British ColumbiaStone Centre at Vancouver General HospitalVancouverBritish ColumbiaCanada

Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable component.Methods: This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis formation.Results: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis formers.Conclusion: The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans.

关键词： Gene Genetic expression Inheritance pattern Urolithiasis

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Stents for malignant ureteral obstruction

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Asian Journal of Urology 2016年第3期3卷 142-149页

作者： Kristina Pavlovic dirk lange Ben H.Chew Department of Urologic Sciences The Stone Centre at Vancouver General HospitalUniversity of British ColumbiaVancouverCanada

Malignant ureteral obstruction can result in renal dysfunction or urosepsis and can limit the physician’s ability to treat the underlying cancer.There are multiple methods to deal with ureteral obstruction including regular polymeric double J stents(DJS),tandem DJS,nephrostomy tubes,and then more specialized products such as solid metal stents(e.g.,Resonance Stent,Cook Medical)and polyurethane stents reinforced with nickel-titanium(e.g.,UVENTA stents,TaeWoong Medical).In patients who require long-term stenting,a nephrostomy tube could be transformed subcutaneously into an extra-anatomic stent that is then inserted into the bladder subcutaneously.We outline the most recent developments published since 2012 and report on identifiable risk factors that predict for failure of urinary drainage.These failures are typically a sign of cancer progression and the natural history of the disease rather than the individual type of drainage device.Factors that were identified to predict drainage failure included low serum albumin,bilateral hydronephrosis,elevated C-reactive protein,and the presence of pleural effusion.Head-to-head studies show that metal stents are superior to polymeric DJS in terms of maintaining patency.Discussions with the patient should take into consideration the frequency that exchanges will be needed,the need for externalized hardware(with nephrostomy tubes),or severe urinary symptoms in the case of internal DJS.This review will highlight the current state of diversions in the setting of malignant ureteral obstruction.

关键词： Malignant ureteral obstruction Ureteral stent Hydronephrosis

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Epidemiology and risk factors for mortality in critically ill patients with pancreatic infection

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Journal of Intensive Medicine 2024年第1期4卷 81-93页

作者： Marie Dejonckheere Massimo Antonelli Kostoula Arvaniti Koen Blot Ben CreaghBrown Dylan Wde lange Jan De Waele Mieke Deschepper Yalim Dikmen George Dimopoulos Christian Eckmann Guy Francois Massimo Girardis Despoina Koulenti Sonia Labeau Jeffrey Lipman Fernando Lipovestky Emilio Maseda Philippe Montravers Adam Mikstacki JoseArtur Paiva Cecilia Pereyra Jordi Rello JeanFrancois Timsit dirk Vogelaers Stijn Blot the Abdominal Sepsis Study(AbSeS)group on behalf of the Trials Group of the European Society of Intensive Care Medicine Department of Internal Medicine and Pediatrics Faculty of Medicine and Health SciencesGhent UniversityGhentBelgium Department of Anesthesiology Intensive Care and Emergency MedicineFondazione Policlinico Universitario A.Gemelli IRCCSRomeItaly UniversitàCattolica del Sacro Cuore RomeItaly Intensive Care Unit Papageorgiou University Affiliated HospitalThessaloníkiGreece Department of Epidemiology and Public Health SciensanoIxellesBelgium Surrey Perioperative Anaesthetic Critical Care Collaborative Research Group(SPACeR) Royal Surrey County HospitalGuildfordUK Department of Clinical and Experimental Medicine University of SurreyGuildfordUK Department of Intensive Care Medicine University Medical Center UtrechtUniversity UtrechtUtrechtthe Netherlands Department of Intensive Care Medicine Ghent University HospitalGhentBelgium Data Science Institute Ghent University HospitalGhentBelgium Department of Anesthesiology and Reanimation Cerrahpasa School of MedicineIstanbul University-CerrahpasaIstanbulTurkey rd Department of Critical Care “EVGENIDIO”HospitalNational and Kapodistrian University of AthensAthensGreece Department of General Visceral and Thoracic SurgeryKlinikum Hannoversch-MuendenGoettingen UniversityGöttingenGermany Division of Scientific Affairs-Research European Society of Intensive Care MedicineBrusselsBelgium Anesthesia and Intensive Care Department University Hospital of ModenaModenaItaly UQ Centre for Clinical Research Faculty of MedicineThe University of QueenslandBrisbaneQLDAustralia nd Critical Care Department Attikon University HospitalAthensGreece Department of Nursing Faculty of EducationHealth and Social WorkUniversity College GhentGhentBelgium Jamieson Trauma Institute The University of QueenslandBrisbaneQLDAustralia Nimes University Hospital University of MontpellierNimesFrance Critical Care Department Hospital of the Interamerican Open University(UAI)Buenos AiresArgentina Surgical Critical Care Department of AnesthesiaHospital Universitario

Background:The AbSeS-classification defines specific phenotypes of patients with intra-abdominal infection based on the(1)setting of infection onset(community-acquired,early onset,or late-onset hospital-acquired),(2)presence or absence of either localized or diffuse peritonitis,and(3)severity of disease expression(infection,sepsis,or septic shock).This classification system demonstrated reliable risk stratification in intensive care unit(ICU)patients with intra-abdominal infection.This study aimed to describe the epidemiology of ICU patients with pancreatic infection and assess the relationship between the components of the AbSeS-classification and mortality.Methods:This was a secondary analysis of an international observational study(“AbSeS”)investigating ICU patients with intra-abdominal infection.Only patients with pancreatic infection were included in this analysis(n=165).Mortality was defined as ICU mortality within 28 days of observation for patients discharged earlier from the ICU.Relationships with mortality were assessed using logistic regression analysis and reported as odds ratio(OR)and 95%confidence interval(CI).Results:The overall mortality was 35.2%(n=58).The independent risk factors for mortality included older age(OR=1.03,95%CI:1.0 to 1.1 P=0.023),localized peritonitis(OR=4.4,95%CI:1.4 to 13.9 P=0.011),and persistent signs of inflammation at day 7(OR=9.5,95%CI:3.8 to 23.9,P<0.001)or after the implementation of additional source control interventions within the first week(OR=4.0,95%CI:1.3 to 12.2,P=0.013).Gramnegative bacteria were most frequently isolated(n=58,49.2%)without clinically relevant differences in microbial etiology between survivors and non-survivors.Conclusions:In pancreatic infection,a challenging source/damage control and ongoing pancreatic inflammation appear to be the strongest contributors to an unfavorable short-term outcome.In this limited series,essentials of the AbSeS-classification,such as the setting of infection onset,diffuse peritonitis,and severity of disease expression,

关键词： Pancreatic infection Intensive care unit Mortality Intra-abdominal infection Sepsis

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Monitoring travel patterns in German city regions with the help of mobile phone network data

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International Journal of Digital Earth 2021年第3期14卷 379-399页

作者： Stefan Fina Jigeeshu Joshi dirk Wittowsky ILS-Research Institute for Regional and Urban Development gGmbH RWTH Aachen UniversityDortmundGermany German Aerospace Center DLR Berlin BerlinGermany Institute of Mobility and Urban Planning University Duisburg-EssenEssenGermany

This paper discusses the possibility to use mobile phone network data to monitor spatial policies in land use and transport planning.Monitoring requires robust time series and reproducible concepts linking spatial policies to monitoring outcomes,a requirement differing from current literature where mobile phone data analysis is exemplified in selected areas with privileged data access.Concepts need to serve the evaluation of policy objectives,for example in regional or local area plans.In this study,we,therefore,extend the application of mobile phone network data to monitoring applications comparing urban settlement types and their characteristic mobility patterns.To accomplish this,we link mobile phone records with urban classifications and transport network data,using both visual and computational approaches to mine the data.The article presents comparisons of travel patterns for selected monocentric and polycentric city regions in Germany,testing hypotheses of transit-oriented regional development,as well as testing for congestion risks in the transport network.The results help us to gain a more detailed understanding of spatial and temporal patterns in mobility for different urban types and assess future potentials for monitoring spatial policies with mobile phone network data.

关键词： Mobile phone network data big data urban mobility visual analytics congestion analysis spatial and temporal analysis GIS

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