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Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias

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Asian Journal of Urology 2022年第2期9卷 186-189页

作者： Nurin A.Listyasari Gorjana Robevska Katie L.Ayers Tiong Yang Tan andrew H.Sinclair Sultana m.H.Faradz Division of Human Genetics Center for Biomedical ResearchFaculty of Medicine Diponegoro UniversitySemarangIndonesia murdoch Children’s Research Institute MelbourneAustralia Department of Paediatrics University of MelbourneMelbourneAustralia Victorian Clinical Genetics Services Murdoch Children’s Research InstituteMelbourneAustralia Diponegoro National Hospital SemarangIndonesia

In Indonesia,undervirilisation in 46,XY males is the most common form of difference of sex development(DSD).This can include hypospadias(misplacement of the urethra),micropenis,bifid scrotum,and undescended testis[1].Undervirilisation or 46,XY DSD can be associated with a number of congenital syndromes,including Smith-Lemli-Opitz Syndrome(OmIm 602858),caused by an inborn error of cholesterol synthesis,and characterised by growth delay,intellectual disability,microcephaly,distinctive facial features,cleft palate,limb anomalies,and hypospadias[2]or Opitz syndrome(also known as Opitz G/BBB syndrome).Opitz syndrome can be caused by variants in the X-linked midline 1(mID1)gene(Type I)or in an autosomal dominant manner by monoallelic variants in sperm antigen with calponin homology and coiled-coil domains 1-like(SPECC1L)on chromosome 22q11.2(Type II)[3].Opitz syndrome is characterised by hypospadias,hypertelorism,cleft lip/palate,and heart defects[4].The prevalence of X-linked Opitz syndrome is estimated to be from 1 in 50000 to 1 in 100000 males[5].Recognition of a syndrome informs appropriate clinical management and patient ***,although these syndromes are rare,hypospadias may be diagnosed before the emergence of other comorbidities meaning that it is crucial for clinicians to perform a thorough clinical evaluation with syndromic causes in mind.

关键词： cholesterol analysis prior

On the horizon:Hedgehog signaling to heal broken bones

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Bone Research 2022年第1期10卷 20-30页

作者： Stephanie T.Kuwahara Shuwan Liu andrew Chareunsouk maxwell Serowoky Francesca V.mariani University of Southern California Keck School of MedicineDepartment of Stem Cell Biology and Regenerative MedicineLos AngelesCA 90033USA

Uncovering the molecular pathways that drive skeletal repair has been an ongoing challenge. Initial efforts have relied on in vitro assays to identify the key signaling pathways that drive cartilage and bone differentiation. While these assays can provide some clues, assessing specific pathways in animal models is critical. Furthermore, definitive proof that a pathway is required for skeletal repair is best provided using genetic tests. Stimulating the Hh(Hedgehog) pathway can promote cartilage and bone differentiation in cell culture assays. In addition, the application of HH protein or various pathway agonists in vivo has a positive influence on bone healing. Until recently, however, genetic proof that the Hh pathway is involved in bone repair has been lacking. Here, we consider both in vitro and in vivo studies that examine the role of Hh in repair and discuss some of the challenges inherent in their interpretation. We also identify needed areas of study considering a new appreciation for the role of cartilage during repair, the variety of cell types that may have differing roles in repair, and the recent availability of powerful lineage tracing techniques. We are optimistic that emerging genetic tools will make it possible to precisely define when and in which cells promoting Hh signaling can best promote skeletal repair, and thus, the clinical potential for targeting the Hh pathway can be realized.

关键词： healing Hedgehog horizon

Vascular disease in the older adult

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Journal of Geriatric Cardiology 2016年第9期13卷 727-732页

作者： andrew P miller Christopher m Huff Gary S Roubin Cardio Vascular Associates Birmingham Alabama USA

Among older adults, incidence and prevalence of aortic disease, peripheral arterial disease (PAD), and venous thromboembolism (VTE) increase as age-related alterations in vascular structure and function are compounded by longer exposure to cardiovascular disease (CVD) risk factors. This review highlights the unique presentations and treatment strategies for aortic dissection, abdominal aortic aneurysm (AAA), PAD, and VTE in older adults.

关键词：大动脉的疾病心血管的疾病外部动脉的疾病老

WEAK ERROR ESTImATES FOR TRAJECTORIES OF SPDEs UNDER SPECTRAL GALERKIN DISCRETIZATION

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Journal of Computational mathematics 2018年第2期36卷 159-182页

作者： Charles-Edouard Brehier martin Hairer andrew m. Stuart Univ Lyon CNRS Universite Claude Bernard Lyon 1 UMR5208 Institut Camille Jordan F-69622 Villeurbanne France Department of mathematics Imperial College London London SW7 2AZ UK Computing and mathematical Sciences California Institute of Technology 1200 E. California Blvd. MC 305-16 Pasadena CA 91125 USA

We consider stochastic semi-linear evolution equations which are driven by additive, spatially correlated, Wiener noise, and in particular consider problems of heat equation （analytic semigroup） and damped-driven wave equations （bounded semigroup） type. We discretize these equations by means of a spectral Galerkin projection, and we study the approximation of the probability distribution of the trajectories： test functions are regular, but depend on the values of the process on the interval [0, T]. We introduce a new approach in the context of quantative weak error analysis for discretization of SPDEs. The weak error is formulated using a deterministic function （It6 map） of the stochastic convolution found when the nonlinear term is dropped. The regularity properties of the It6 map are exploited, and in particular second-order Taylor expansions employed, to transfer the error from spectral approximation of the stochastic convolution into the weak error of interest. We prove that the weak rate of convergence is twice the strong rate of convergence in two situations. First, we assume that the covariance operator commutes with the generator of the semigroup： the first order term in the weak error expansion cancels out thanks to an independence property. Second, we remove the commuting assumption, and extend the previous result, thanks to the analysis of a new error term depending on a commutator.

关键词： Stochastic Partial Differential Equations Weak approximation Spectral Galerkin discretization

Synthesis and crystal structure of a neodymium coordination polymer with 2,6-anthraquinonedisulfonate

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Particuology 2010年第3期8卷 221-224页

作者： Jennifer L. Nicholls John Bacsa andrew m. Fogg Department of Chemistry University of Liverpool Crown Street Liverpool L69 7ZD United Kingdom

The coordination polymer, （Nd（H2O）5）2（2,6-AQDS）3.2H2O where 2,6-AQDS = 2,6- anthraquinonedisulfonate, has been synthesised via a hydrothermal route. Structurally, it consists of layers of monomeric Nd polyhedra which are linked by 2,6-AQDS anions forming a polymeric, three-dimensional network. Each Nd atom is nine coordinate, bonding to five water molecules and to four oxygen atoms from four 2,6-AODS anions which in turn pillar the layers by bridging two Nd atoms in one layer, and coordinating to a single Nd in the other.

关键词： Lanthanide Layered materials Sulfonate Coordination polymer

Recent developments on Opuntia spp.,their bioactive composition,nutritional values,and health effects

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Food Bioscience 2022年第3期47卷 46-66页

作者： Davor Daniloski Nathan m.D'Cunha Hollie Speer andrew J.mcKune Natalie Alexopoulos Demosthenes B.Panagiotakos Anka T.Petkoska Nenad Naumovski Victoria University Advanced Food Systems Research UnitInstitute for Sustainable Industries and Liveable Cities and College of Health and BiomedicineMelbourneVictoria8001Australia Teagasc Food Research Centre Food Chemistry and Technology DepartmentMooreparkFermoyP61 C996CorkIreland University of Canberra Faculty of HealthSchool of Rehabilitation and Exercise SciencesBruceAustralian Capital Territory2617Australia University of Canberra Functional Foods and Nutrition Research (FFNR) LaboratoryNgunnawal CountryBruceAustralian Capital Territory2617Australia University of Canberra Research Institute for Sport and Exercise (UC-RISE)BruceAustralian Capital Territory2617Australia University of KwaZulu-Natal Discipline of BiokineticsExercise and Leisure SciencesSchool of Health ScienceDurbanKwaZulu-Natal4000South Africa Chiron Organic Health WedderburnVictoria3518Australia Harokopio University Discipline of Nutrition and DieteticsSchool of Health Science and EducationAthens17676Greece St.Clement of Ohrid University of Bitola Faculty of Technology and Technical SciencesDimitar Vlahov4000VelesNorth Macedonia

Opuntia is a plant that grows in wild,arid,and semi-arid regions,and it is a renowned food source that is presently *** chemical composition and properties of the Opuntia genus have attracted research and commercial interest as its species are rich in phytochemicals,nutrients,and bioactive *** of these constituents have revealed anti-inflammatory,antioxidant,antibacterial,anti-cancer,anti-atherosclerotic,antidiabetic,neurological,and gut protective *** review provides an extensive and up-to-date evidence synthesis of the nutrients in the Opuntia genus,its phytochemical composition,health benefits,the influence of the processing technologies on its bioactive components,and the potential for functional food product *** to its high nutritional value,Opuntia genus has the potential to contribute to improving food security and contribute to the food industry as food additive or ***,Opuntia products can be utilized as food substitutes as part of a well-balanced diet and may potentially have pharmacological *** Opuntia genus is also used as animal feed,a source of nutraceuticals,an addition to edible packaging materials,wastewater treatment,and land rehabilitation in arid *** is a rich source of minerals,essential amino acids,and vitamins,and is high in antioxidants,making it a promising candidate for the management of non-communicable *** potential health-promoting effects of Opuntia consumption remain relatively unexplored,and further research human trials are required to unravel its mechanisms of action.

关键词： Opuntia Functional food Bioactive compounds Non-communicable diseases Health benefits

Age as a predictor of clinical outcomes and determinant of therapeutic measures for emergency medical services treated cardiogenic shock

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Journal of Geriatric Cardiology 2023年第1期20卷 1-10页

作者： Xiaoman Xiao Jason E Bloom Emily andrew Luke P Dawson Ziad Nehme michael Stephenson David Anderson Himawan Fernando Samer Noaman Shelley Cox William Chan David m Kaye Karen Smith Dion Stub Department of Cardiology Alfred Health55 Commercial RoadMelbourneAustralia Baker Heart and Diabetes Institute 75 Commercial RoadMelbourneAustralia Department of Cardiology Western HealthFurlong RoadSt AlbansAustralia Ambulance Victoria 31 Joseph StreetBlackburnAustralia School of Public Health and Preventive medicine Monash University553 St Kilda RoadMelbourneAustralia Department of Paramedicine Monash UniversityMcMahons RoadFrankstonAustralia

BACKGROUND The impact of age on outcomes in cardiogenic shock(CS)is poorly described in the pre-hospital *** assessed the impact of age on outcomes of patients treated by emergency medical services(EmS).mETHODS This population-based cohort study included consecutive adult patients with CS transported to hospital by *** linked patients were stratified into tertiles by age(18-63,64-77,and>77 years).Predictors of 30-day mortality were assessed through regression *** primary outcome was 30-day all-cause *** A total of 3523 patients with CS were successfully linked to state health *** average age was 68±16 years and 1398(40%)were *** patients were more likely to have comorbidities including pre-existing coronary artery disease,hypertension,dyslipidemia,diabetes mellitus,and cerebrovascular *** incidence of CS was significantly greater with increasing age(incidence rate per 100,000 person years 6.47[95%CI:6.1-6.8]in age 18-63 years,34.34[32.4-36.4]in age 64-77 years,74.87[70.6-79.3]in age>77 years,Pmortality with increasing age *** adjustment,compared to the lowest age tertile,patients aged>77 years had increased risk of 30-day mortality(adjusted hazard ratio=2.26[95%CI:1.96-2.60]).Older patients were less likely to receive inpatient coronary *** Older patients with EmS-treated CS have significantly higher rates of short-term *** reduced rates of invasive interventions in older patients underscore the need for further development of systems of care to improve outcomes for this patient group.

关键词： assessed services shock

High-throughput predictions of metal-organic framework electronic properties:theoretical challenges,graph neural networks,and data exploration

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npj Computational materials 2022年第1期8卷 1053-1062页

作者： andrew S.Rosen Victor Fung Patrick Huck Cody T.O’Donnell matthew K.Horton Donald G.Truhlar Kristin A.Persson Justin m.Notestein Randall Q.Snurr Department of materials Science and Engineering University of CaliforniaBerkeleyCA94720USA miller Institute for Basic Research in Science University of CaliforniaBerkeleyBerkeleyCA94720USA materials Science Division Lawrence Berkeley National LaboratoryBerkeleyCA94720USA Department of Chemical and Biological Engineering Northwestern UniversityEvanstonIL60208USA Center for Nanophase materials Sciences Oak Ridge National LaboratoryOak RidgeTN37831USA Energy Technologies Area Lawrence Berkeley National LaboratoryBerkeleyCA94720USA Department of Chemistry Chemical Theory Centerand Minnesota Supercomputing InstituteUniversity of MinnesotaMinneapolisMN55455USA molecular Foundry Lawrence Berkeley National LaboratoryBerkeleyCA94720USA

With the goal of accelerating the design and discovery of metal–organic frameworks(mOFs)for electronic,optoelectronic,and energy storage applications,we present a dataset of predicted electronic structure properties for thousands of mOFs carried out using multiple density functional *** to more accurate hybrid functionals,we find that the widely used PBE generalized gradient approximation(GGA)functional severely underpredicts mOF band gaps in a largely systematic manner for semi-conductors and insulators without magnetic ***,an even larger and less predictable disparity in the band gap prediction is present for mOFs with open-shell 3d transition metal *** regards to partial atomic charges,we find that different density functional approximations predict similar charges overall,although hybrid functionals tend to shift electron density away from the metal centers and onto the ligand environments compared to the GGA point of *** more significant differences in partial atomic charges are observed when comparing different charge partitioning *** conclude by using the dataset of computed mOF properties to train machine-learning models that can rapidly predict mOF band gaps for all four density functional approximations considered in this work,paving the way for future high-throughput screening *** encourage exploration and reuse of the theoretical calculations presented in this work,the curated data is made publicly available via an interactive and user-friendly web application on the materials Project.

关键词： charges electronic centers

A Ring-Reinforced Right Ventricle to Pulmonary Artery Conduit Is Associated with Better Regional mechanics after Stage I Norwood Operation

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Congenital Heart Disease 2022年第5期17卷 591-603页

作者： Benjamin Zielonka David m.Harrild Sunil J.Ghelani Eleni G.Elia Christopher W.Baird andrew J.Powell Rahul H.Rathod Department of Cardiology Boston Children’s HospitalBostonUSA Department of Pediatrics Harvard Medical SchoolBostonUSA Department of Cardiothoracic Surgery Boston Children’s HospitalBostonUSA Department of Surgery Harvard Medical SchoolBostonUSA

Background:The right ventricle to pulmonary artery conduit(RVPAC)may impair right ventricular(RV)function in patients with functional single right *** of the RVPAC using a ring-reinforced end with dunked insertion into the RV through a limited ventriculotomy may reduce the impact on RV *** compared RV segmental strain between patients with a traditional RVPAC and ring-reinforced RVPAC using feature tracking cardiovascular magnetic resonance(CmR)***:Patients with CmR examinations after Stage I operation with RVPAC between 2000 and 2018 were *** mass,volumes,late gadolinium enhancement(LGE),and peak radial and circumferential strain of the 4 segments near the RVPAC insertion site were ***:The study included 71 CmR examinations in 61 patients(30 traditional RVPAC,31 ring-reinforced RVPAC).Prior to Stage II,the ring-reinforced RVPAC group had better peak radial strain and circumferential strain in 1 of 4 segments proximal to the RVPAC insertion site compared to the traditional RVPAC *** to Stage III operation,the ring-reinforced group had better peak radial and circumferential strain in 2 of 4 *** at the RVPAC insertion site was observed in 97%of patients before Stage II and 95%of patients before Stage *** type and regional strain were not associated with transplant-free survival during a median follow-up of 6.3 ***:Compared to a traditional RVPAC,the ring-reinforced RVPAC is associated with improved regional mechanics at the conduit insertion *** investigation of long-term outcomes after ring-reinforced RVPAC is warranted.

关键词： Single ventricle hypoplastic left heart syndrome cardiovascular magnetic resonance feature tracking