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Next-generation sequencing:toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure

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Asian Journal of Andrology 2021年第1期23卷 24-29页

作者： Rossella Cannarella Rosita A Condorelli Stefano Paolacci Federica Barbagallo Giulia Guerri Matteo Bertelli Sandro la Vignera Aldo e Calogero Department of Clinical and experimental Medicine University of CataniaCatania 95123Italy MAGI eUReGIO Bolzano 39100Italy

A large proportion of patients with idiopathic spermatogenic failure(SPGF;oligozoospermia or nonobstructive azoospermia[NOA])do not receive a diagnosis despite an extensive diagnostic *** evidence has shown that the etiology remains undefined in up to 75%of these patients.A number of genes involved in germ-cell proliferation,spermatocyte meiotic divisions,and spermatid development have been called into play in the pathogenesis of idiopathic oligozoospermia or ***,this evidence mainly comes from case ***,this study was undertaken to identify the molecular causes of *** accomplish this,15 genes(USP9Y,NR5A1,KLHL10,ZMYND15,PLK4,TeX15,TeX11,MeIOB,SOHLH1,HSF2,SYCP3,TAF4B,NANOS1,SYCe1,and RHOXF2)involved in idiopathic SPGF were simultaneously analyzed in a cohort of 25 patients with idiopathic oligozoospermia or NOA,accurately selected after a thorough diagnostic *** next-generation sequencing(NGS)analysis,we identified the presence of rare variants in the NR5A1 and TeX11 genes with a pathogenic role in 3/25(12.0%)*** other different variants were identified,and among them,13 have never been reported *** out of 17 variants were likely pathogenic and deserve functional or segregation *** genes most frequently mutated were MeIOB,followed by USP9Y,KLHL10,NR5A1,and *** alterations were found in the SYCP3,TAF4B,NANOS1,SYCe1,or RH0XF2 *** conclusion,NGS technology,by screening a specific custom-made panel of genes,could help increase the diagnostic rate in patients with idiopathic oligozoospermia or NOA.

关键词： azoospermia next-generation sequencing oligozoospermia spermatogenetic failure

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Two upper bounds for the erdos-Hooley Delta-function

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Science China Mathematics 2023年第12期66卷 2683-2692页

作者： Regis de la Breteche Gerald Tenenbaum Institut de Mathematiques Universite Paris CiteSorbonne UniversiteCNRSParis F-75013France Institut elie Cartan Universite de LorraineVandoeuvre-les-NancyBP 70239France

For integer n≥1 and real u,let Δ(n,u):=|{d:d] n,e^(u)e^(u+1)}|.The erdos-Hooley Deltafunction is then defined by Δ(n):=Max_(u∈R)Δ(n,u).We improve the current upper bounds for the average and normal orders of ... 详细信息

关键词： concentration of divisors average order normal order Waring’s problem

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Frictional Behavior of a Micro-sized Superconducting Fiber in a Low-Temperature Medium： experimental and Computational Analysis

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Acta Mechanica Solida Sinica 2018年第4期31卷 405-415页

作者： Shiren la Jun Wang Xingyi Zhang Youhe Zhou Department of Mechanics and engineering Sciences College of Civil Engineering and Mechanics Lanzhou University Lanzhou 730000 China Key laboratory of Mechanics on Disaster and environment in Western China Attached to the Ministry of education of China Lanzhou University Lanzhou 730000 China

The purpose of the current study is to explore the frictional behavior of a micro- sized superconducting fiber at the low-temperature condition. At first, a highly precise tribometer composed of a superconducting fiber wrapping around a cylinder made of pure Cu was immersed in liquid nitrogen. The force and displacement resolutions of the experimental system were as high as 0.01 mN and 0.03 ~m, respectively. The NbTi fibers with diameters ranging from 22.9 to 115 ~m were used in the experiments, and their frictional behaviors in three media, i.e., liquid nitrogen, air and water, were systemically investigated. It was found that the frictional force in air showed a remarkable size effect. The existence of water medium could significantly reduce the frictional force, but could not eliminate the size effect. For the samples with the same diameter, the frictional force in liquid nitrogen was about 1.4 times of that in air, accompanied with remark- able stick-slip phenomenon. Notably, the fiber＇s frictional behavior in liquid nitrogen showed no dependence on diameter. In order to interpret these phenomena, the frictional behaviors of the fibers in air, water and liquid nitrogen were simulated using a modified spring-slider model, by taking into account the influence of hydrophilicity on surface roughness, and the influence of surface roughness on the fiber＇s frictional behavior. The simulation results were consistent with the experimental data qualitatively.

关键词： Micro-sized superconducting fiber Frictional behavior Surface roughness Hydrophilic-ity Stick-slip Size effect Modified spring-slider model

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A functional variant in the CD209 promoter is associated with DQ2-negative celiac disease in the Spanish population

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World Journal of Gastroenterology 2006年第27期12卷 4397-4400页

作者： C Nú■ez B Rueda A Martínez C Maluenda I Polanco MA López-Nevot e Ortega e Sierra e Gómez de la Concha e Urcelay J Martín Servicio de Inmunología Clínica Hospital Clínico San CarlosMadridSpain Instituto de Parasitología y Biomedicina "López Neyra" CSICGranadaSpain Servicio de Pediatría Hospital Clínico San CarlosMadrid Spain Servicio de Gastroenterología y Nutrición Pediátrica Hospital La PazMadridSpain Servicio de Inmunología Hospital Virgen de las NievesGranadaSpain Servicio de Pediatría Hospital Virgen de las NievesGranadaSpain Centro de Investigaciones Biológicas CISCMadridSpain

AIM： To address the role of CD209 in celiac disease （CD） patients. Non-human leukocyte antigen （Hla） genetic factors in CD predisposition are poorly understood, and environmental factors like infectious pathogens may play a role. CD209 is a dendritic and macrophage surface molecule involved in pathogen recognition and immune activation. Recently, a functional variant in the promoter of the CD209 gene （-336A/G） has been shown to affect the transcriptional CD209 activity in vitro and it has been associated with a higher susceptibility to/or severity of infection. MeTHODS： The study population was composed of two case-control cohorts of 103 and 386 CD patients and 312 y 419 healthy controls as well as a panel of 257 celiac families. Genotyping for the -336A/G CD209 promoter polymorphism was performed using a TaqMan 5＇ allelic discrimination assay. Hla-DQ was determined by hybridization with allele specific probes. ReSULTS： Initially, the case-control and familial studies did not find any association of the -336 A/G CD209 genetic variant with CD susceptibility. However, the stratification by Hla-DQ2 did reveal a significant association of CD209 promoter polymorphism in the Hla-DQ2 （-） group （carrier A vs GG in DQ2 （-） vs DQ2 （＋） patients （P = 0.026, OR = 3.71）. CONCLUSION： The -336G CD209 allele seems to be involved in CD susceptibility in Hla-DQ2 （-） patients. Our results might suggest a possible role of pathogens in the onset of a minor group of CD patients.

关键词： CD209 Hla-DQ2 Celiac disease Single nucleotide polymorphism Susceptibility

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effect of BaF2 addition on luminescence properties of er3+/Yb3+ co-doped phosphate glasses

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Journal of Rare earths 2018年第1期36卷 58-63页

作者： K.Linganna R.Narro-García P.Manasa H.Desirena e.De la Rosa C.K.Jayasankar Department of Physics Sri Venkateswara University Centro de Investigaciones en Optica Advanced Optical Lens Research Center Korea Photonics Technology Institute (KOPTI) Centro de Física Aplicada y Tecnología Avanzada UNAM

er/Ybco-doped phosphate glasses(PO-AlO-BaO-BaF-KO-erO-YbO) with varying BaFcontent,were prepared by a conventional melt quenching technique and their spectroscopic properties were examined through the Raman, absorption, emission and decay measurements. Raman spectra(350-1400 cm) of the er/Ybco-doped phosphate glasses with varying BaFcontent, were recorded upon laser excitation at 785 nm. Near infrared luminescence spectra were measured in the1400-1600 nm region under 970 nm diode laser excitation and characteristic band was observed at1533 nm corresponding to ~4Ⅰ→~4Ⅰtransition of erion. The decay curves for the ~4Ⅰlevel of erion, were measured and the lifetime is found to decrease from 7.94 to 7.70 ms when BaFcontent increases from 0 to 8 mol% and then increases up to 7.83 ms with further increase in BaFcontent(12 mol%). The emission *** and figure of merit for the ~4Ⅰ→~4Ⅰtransition of erion were evaluated and compared to the other host matrices. The upconversion luminescence was measured and intense red emission was observed for all the studied samples.

关键词： er3+/Yb3+co-doped phosphate glasses Raman spectra Absorption and emission cross-sections Lifetime Rare earths

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Management of lateral pelvic lymph nodes in rectal cancer:Is it time to reach an Agreement?

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World Journal of Clinical Oncology 2024年第4期15卷 472-477页

作者： Sigfredo e Romero-Zoghbi Fernando López-Campos Felipe Couñago Department of Radiation Oncology GenesisCareTalavera de la Reina 45600ToledoSpain Department of Radiation Oncology Hospital Universitario Ramón Y CajalMadrid 28034Spain Department of Radiation Oncology GenesisCare-Hospital Universitario Vithas Madrid La MilagrosaMadrid 28010Spain

In this editorial,we proceed to comment on the article by Chua et al,addressing the management of metastatic lateral pelvic lymph nodes(mLLN)in stage II/III rectal cancer patients below the peritoneal *** treatment of this nodal area sparks significant controversy due to the strategic differences followed by eastern and Western physicians,albeit with a higher degree of convergence in recent *** dissection of lateral pelvic lymph nodes without neoadjuvant therapy is a standard practice in eastern *** contrast,in the West,preference leans towards opting for neoadjuvant therapy with chemoradiotherapy or radiotherapy,that would cover the treatment of this area without the need to add the dissection of these nodes to the total mesorectal *** the presence of high-risk nodal characteristics for mLLN related to radiological imaging and lack of response to neoadjuvant therapy,the risk of lateral local recurrence increases,suggesting the appropriate selection of strategies to reduce the risk of recurrence in each patient *** the heterogeneous and retrospective nature of studies addressing this area,an international consensus is necessary to approach this clinical scenario uniformly.

关键词： Rectal cancer lateral pelvic lymph node metastases Pelvic lymph node dissection Total neoadjuvant therapy Selective management of the lateral pelvic nodes Prophylactic management of the lateral pelvic nodes Chemoradiotherapy Total mesorectal excision

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effect of a force-free end on the mechanical property of a biopolymer--A path integral approach

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Chinese Physics B 2016年第8期25卷 468-473页

作者：周子聪 Bla Joós Department of Physics Tamkang University Ottawa Carleton Institute for Physics University of Ottawa Campus

We study the effect of a force-free end on the mechanical property of a stretched *** system can be divided into two *** first part consists of the segment counted from the fixed point（i.e.,the origin） to the forced point in the biopolymer,with arclength L_*** second part consists of the segment counted from the forced point to the force-free end with arclength △*** apply the path integral technique to find the relationship between these two *** finite temperature and without any constraint at the end,we show exactly that if we focus on the quantities related to the first part,then we can ignore the second part *** Carlo simulation confirms this *** contrast,the effect for the quantities related to the second part is dependent on what we want to observe.A force-free end has little effect on the relative extension,but it affects seriously the value of the end-to-end distance if △L is comparable to L_f.

关键词： statistical physics path integral biopolymers mechanical property

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A new concept to forecast the process of suspended sediment accumulation in the bottom sediment of small reservoirs

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International Journal of Sediment Research 2023年第4期38卷 556-565页

作者： Maksymilian Cie?la Renata Gruca-Rokosz Lilianna Bartoszek Department of environmental and Chemistry engineering Faculty of Civil and Environmental Engineering and Architecture Rzeszow University of Technology

The new concept presented for forecasting the rate of accumulation of suspended sediment in reservoir water in the bottom sediment allows reasonable estimates of the siltation process globally, regionally, or locally, to be obtained without the need for costly research. The method draws on three key parameters,i.e., the concentration of suspended sediments(SS), and its organic matter(OMSS) content, as well as the storage capacity(VR)(i.e., the water storage in the reservoir). All of these parameters easy to determine,with information on them, in fact, made widely available by most agencies managing reservoirs in different parts of the world. In practice, the proposed method can represent a missing link in the precise determination of a reservoirs rate of siltation(and hence, losses of storage capacity).

关键词： Sediment accumulation Suspended sediment Organic matter Storage reservoirs Siltation rates Water resources

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Comparative analysis of two nonlethal methods for the study of the gut bacterial communities in wild lizards

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Integrative Zoology 2023年第6期18卷 1056-1071页

作者： Mauricio HeRNÁNDeZ Sergio ANCONA Stephanie HeReIRA-PACHeCO Aníbal HDÍAZ De la VeGA-PÉReZ Yendi e.NAVARRO-NOYA Doctorado en Ciencias Biológicas Centro de Tlaxcala de Biología de la ConductaUniversidad Autónoma de TlaxcalaTlaxcalaMexico Departamento de ecología evolutiva Instituto de EcologíaUniversidad Nacional Autónoma de MéxicoMexico CityMexico estación Científica la Malinche Centro de Tlaxcala de Biología de la ConductaUniversidad Autónoma de TlaxcalaTlaxcalaMexico Consejo Nacional de Ciencia y Tecnología—Centro Tlaxcala de Biología de la Conducta Universidad Autónoma de TlaxcalaTlaxcalaMexico laboratorio de Interacciones Bióticas Centro de Investigación en Ciencias BiológicasUniversidad Autónoma de TlaxcalaTlaxcalaMexico

Fecal samples or cloacal swabs are preferred over lethal dissections to study vertebrate gut microbiota for ethical reasons,but it remains unclear which nonlethal methods provide more accurate information about gut *** compared the bacterial communities of three gastrointestinal tract(GIT)segments,that is,stomach,small intestine(midgut),and rectum(hindgut)with the bacterial communities of the cloaca and feces in the mesquite lizard Sceloporus *** hindgut had the highest taxonomic and functional alpha diversity,followed by midgut and feces,whereas the stomach and cloaca showed the lowest *** taxonomic assemblages of the GIT segments at the phylum level were strongly correlated with those retrieved from feces and cloacal swabs(rs>0.84 in all cases).The turnover ratio of Amplicon Sequence Variants(ASVs)between midgut and hindgut and the feces was lower than the ratio between these segments and the *** than half of the core-ASVs in the midgut(24 of 32)and hindgut(58 of 97)were also found in feces,while less than 5 were found in the *** the ASVs level,however,the structure of the bacterial communities of the midgut and hindgut were similar to those detected in feces and *** findings suggest that fecal samples and cloacal swabs of spiny lizards provide a good approximation of the taxonomic assemblages and beta diversity of midgut and hindgut microbiota,while feces better represent the bacterial communities of the intestinal segments at a single nucleotide variation level than cloacal swabs.

关键词： animal microbiome cloacal swabs fecal samples intestinal tract reptile gut microbiome

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HVOF-sprayed HAp/S53P4 BG composite coatings on an AZ31 alloy for potential applications in temporary implants

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Journal of Magnesium and Alloys 2024年第1期12卷 345-360页

作者： Carlos A.Poblano-Salas John Henao Astrid L.Giraldo-Betancur Paola Forero-Sossa Diego German espinosa-Arbelaez Jorge A.González-Sánchez Luis R.Dzib-Pérez Susana T.estrada-Moo Idelfonso e.Pech-Pech CIATeQ A.C. Av.Manantiales 23-AParque Industrial Bernardo QuintanaEl MarquésQuerétaro 76246Mexico CONAHCYT-CIATeQ A.C. Av.Manantiales 23-AParque Industrial Bernardo QuintanaEl MarquésQuerétaro 76246Mexico CONAHCYT-Cinvestav Libramiento Norponiente#2000.Fraccionamiento Real de JuriquillaQuerétaro 76230Mexico Universidad Tecnológica de Querétaro Av.Pie de la Cuesta N°2501Querétaro 76148Mexico CIDeSI Av.Playa Pie de la Cuesta No 702Col.San PabloQuerétaro 76125Mexico Center for Corrosion Research Autonomous University of CampecheAv.Héroe de Nacozari No.480P.C.24070San Francisco de CampecheCam.Mexico

Bioactive thermal spray coatings produced via high-velocity oxygen fuel spray(HVOF)from hydroxyapatite(HAp)and bioactive glasses(BG)have the potential to be employed on temporary implants due to the ability of both HAp and BG to dissolve and promote osseointegration,considering that both phases have different reaction and dissolution rates under in-vitro *** the present work,75%***-25%wt.S53P4 bioactive glass powders were HVOF-sprayed to obtain HAp/S53P4 BG composite coatings on a bioresorbable AZ31 *** study is focused on exploring the effect of the stand-off distance and fuel/oxygen ratio variation as HVOF parameters to obtain stable structural coatings and to establish their effect on the phases and microstructure produced in those *** characterization techniques,such as scanning electron microscopy,X-ray diffraction,and Fourier transform infrared spectroscopy,were employed to characterize relevant structural and microstructural properties of the composite *** results showed that thermal gradients during coating deposition must be managed to avoid delamination due to the high temperature achieved(max 550℃)and the differences in coefficients of thermal *** was also found that both spraying distance and oxygen/fuel ratio allowed to keep the hydroxyapatite as the main phase in the *** addition,in-vitro electrochemical studies were performed on the obtained HAp/S53P4 BG composite coatings and compared against the uncoated AZ31 *** results showed a significant decrease in hydrogen evolution(at least 98%)when the bioactive coating was applied on the Mg alloy during evaluation in simulated body fluid(SBF).

关键词： Coatings Composites Thermal spray Temporary implants Hydrogen evolution

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