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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

Comprehensive review of telbivudine in pregnant women with chronic hepatitis B

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World Journal of Hepatology 2016年第9期8卷 452-460页

作者： Teerha Piratvisuth Guo rong Han Stanislas Pol Yuhong Dong aldo Trylesinski Department of Medicine NKC Institute of Gastroenterology and Hepatology Prince of Songkla University Department of Gynecology and Obstetrics the Second Affiliated Hospital of the Southeast University Département d’Hépatologie Inserm USM20 Institut Pasteur AP-HP hopital Cochin Université Paris Descartes Novartis Pharma AG

AIM:To achieve an evidence-based conclusion regarding the safety and efficacy of telbivudine during ***:A pooled analysis of data from a literature search reported 1739 pregnancy outcomes(1673 live births)from 1725 non-overlapping pregnant women treated with *** prevalence of live birth defects(3.6/1000)was similar to that of the nonantiviral controls(3.0/1000)and not increased as compared with overall prevalence(14.5 to 60/1000).No target organ toxicity was *** prevalence of spontaneous abortion in pregnant women treated with telbivudine(4.2/1000)was not increased compared with the overall prevalence(16/1000).The mother-to-child transmission rate was significantly reduced in pregnant women treated with telbivudine(0.70%)compared to those treated with the non-antiviral controls(11.9%;Pr compared to the historical rates of hepatitis B virus(HBV)-infected population without antiviral treatment(10%-15%).rESULTS:Cumulatively 489 pregnancy cases have been reported in the telbivudine pharmacovigilance database(with a cut-off date 31 August 2014),of those,308 had known pregnancy outcomes with 249 cases of live births(239 cases of live birth without congenital anomaly and 10 cases of live birth with congenital anomaly).In the latest antiretroviral pregnancy registry report(1 January 1989 through 31 January 2015)of27 patients exposed to telbivudine during pregnancy(18,6 and 3 during first,second and third trimester,respectively)19 live births were reported and there were no cases of birth defects ***:Telbivudine treatment during pregnancy presents a favorable safety profile without increased rates of live birth defects,spontaneous abortion or elective termination,or fetal/neonatal *** to telbivudine in the first,second and third trimester of pregnancy has been shown to significantly reduce the risk of HBV transmission from mother to child on the basis of standard immune prophylaxis procedure.

关键词： Telbivudine Hepatitis B virus Pregnancy Mother-to-child transmission Vertical transmission

A Set of GrASS GIS-Based Shell Scripts for the Calculation and Graphical Display of the Main Morphometric Parameters of a river Channel

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International Journal of Geosciences 2016年第2期7卷 135-143页

作者： aldo Clerici Susanna Perego Dipartimento di Fisica e Scienze della Terra “M. Melloni” University of Parma Parma Italy

For the analysis of river evolution, the use of quantitative parameters can be quite useful in order to assess changes in the channel planform. Among the several parameters proposed by different authors in a number of papers, channel length and width, braiding and sinuosity indexes, and channel lateral shifting are proved to be the most effective ones for a quantitative analysis of river changes. However, the calculation of these parameters is time-consuming, tedious and error-prone, even where made in a GIS environment. This work describes four shell scripts that perform fast and automatic calculation of the morphometric parameters and draw curves showing the variation of the calculated parameters along the entire channel development. The scripts are based on commands of the GrASS GIS free and open source software and, as input, they require a simple vector map containing the essential features of a river channel, i.e. bankfull channel limits and longitudinal and lateral bars.

关键词： GrASS GIS Shell Script river Morphometry

Controlling the Worldwide Chaotic Spreading of COVID-19 through Vaccinations

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Journal of Modern Physics 2022年第1期13卷 1-15页

作者： Hua Zheng aldo Bonasera School of Physics and Information Technology Shaanxi Normal University Xi’an China Cyclotron Institute Texas A&M University College Station USA Laboratori Nazionali del Sud INFN Catania Italy

The striking differences and similarities between the “Spanish-flu” of 1918 and the Coronavirus disease of 2019 (COVID-19) are analyzed. Progress in medicine and technology and in particular the availability of vaccines has decreased the death probability from about 2% for the Spanish-flu, to about 10-4 in the UK and 10-3 in Italy, USA, Canada, San Marino and other countries for COVID-19. The logistic map reproduces most features of the disease and may be of guidance for predictions and future steps to be taken in order to contrast the virus. We estimate 6.4 × 107 deceases worldwide without the vaccines, this value decreases to 1.6 × 107 with the current vaccination rate. In November 2021, the number of deceased worldwide was 5.1 × 106. To reduce the fatalities further, it is imperative to increase the vaccination rate worldwide to at least 120 millions/day and the AstraZeneca vaccine due to its efficacity and cost is a possible route to accomplish this.

关键词： COVID-19 Vaccination Logistic Map

The effect of different technologies in Pomegranate jam preparation on the phenolic compounds, vitamin C and antioxidant activity

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FOOD BIOSCIENCE 2023年第3期53卷 667-673页

作者： Velotto, Salvatore Palmeri, rosa Alfeo, Vincenzo Gugino, Ignazio M. Fallico, Biagio Spagna, Giovanni Todaro, aldo Univ roma San raffaele Dept Promot Human Sci & Qual Life Via Val Cannuta 247 Rome Italy Univ Catania Dipartimento Agr Alimentaz Ambiente Di3A Via S Sofia 98 I-95123 Catania Italy Univ Perugia Italian Brewing Res Ctr Via San Costanzo S-N-C I-06126 Perugia Italy Univ Palermo Dept Agr Food & Forest Sci Viale Sci I-90128 Palermo Italy

The effect of different gelling agents and processing for jam production from pomegranate juice was evaluated. In the last years, different gelling agents were tested for improving jam quality in terms of color and bioactive compounds. The unsonicated and sonicated pomegranate juices were processed for jam production by microwaves, under vacuum and cryoconcentration concentration methods using low and high methoxy pectins, and carob seed flour as gelling agents. The polyphenols content of sonicated jam was significantly lower than unsonicated samples and cryoconcentrated jams showed the significantly highest value among other methods. The results showed the highest anthocyanin content in the both sonicated and unsonicated jam including carob seed flour and antocyanins content of the cryoconcentrated samples was in the range of 156.6-186.2 mg/kg, and revealed higher content compared to the other processed *** findings showed that cryoconcentrated method is more effective in preserving the total polyphenols, anthocyanins, vitamin C and antioxidant activity. Moreover, also the colour of cryoconcentrated pomegranade jam was preserved. Cryoconcentration is a promising method for preserving organoleptic and functional properties of the jam produced from pomegranate juice.

关键词： Pomegranate jam Cryoconcentration Antioxidants Anthocyanins

Getting physical with medical education:Exercise based virtual anatomy review classes for medical students

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World Journal of Methodology 2025年第1期15卷 20-25页

作者： Nadeesha r Samarasinghe Taniya S Nagpal Michele L Barbeau Charys M Martin Division of General Surgery Faculty of MedicineUniversity of British ColumbiaVancouver V6T 1Z3BCCanada Faculty of Kinesiology Sport and RecreationUniversity of AlbertaEdmonton T6G 2R3ABCanada Anatomy and Cell Biology University of Western OntarioLondon N6A 3K7ONCanada Department of Anatomy and Cell Biology Schulich School of Medicine and DentistryThe University of Western OntarioLondon N6A 3K7ONCanada

The benefits of regular physical activity are well ***,few studies have examined the effectiveness of integrating physical activity(PA)into curricula within a post-secondary *** investigate the incorporation of PA into medical curriculum,we developed a series of optional exercise-based review sessions designed to reinforce musculoskeletal(MSK)anatomy course *** synchronous sessions were co-taught by a group fitness instructor and an anatomy *** fitness instructor would lead students through both strength and yoga style exercises,while the anatomy instructor asked questions about relevant anatomical structures related to course material previously *** the sessions,participants were asked to evaluate the classes on their self-reported exam preparedness in improving MSK anatomy knowledge,PA levels,and mental *** participants completed surveys;a majority agreed that the classes increased understanding of MSK concepts(90.0%)and activity levels(97.7%).Many(70.0%)felt that the classes helped reduce *** majority of respondents(90.0%)agreed that the classes contributed to increased feelings of social ***,medical students saw benefit in PA based interventions to supplement MSK course *** with increasing activity levels and promoting health behaviours,integrating PA into medical curriculum may improve comprehension of learning material,alleviate stress and foster social connectivity among medical students.

关键词： Medical education Musculoskeletal Anatomy Exercise Online learning

Portable lensless wide-field microscopy imaging platform based on digital inline holography and multi-frame pixel super-resolution

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Light(Science & Applications) 2015年第1期4卷 152-162页

作者： Antonio C Sobieranski Fatih Inci H Cumhur Tekin Mehmet Yuksekkaya Eros Comunello Daniel Cobra aldo von Wangenheim Utkan Demirci Demirci Bio-Acoustic-MEMS in Medicine(BAMM)Laboratory Division of Biomedical EngineeringDivision of Renal MedicineDepartment of MedicineBrigham and Women’s HospitalHarvard Medical SchoolBostonMAUSA Demirci Bio-Acoustic-MEMS in Medicine(BAMM)Laboratory Division of Infectious DiseasesBrigham and Women’s HospitalHarvard Medical SchoolBostonMAUSA INCoD–National Brazilian Institute for Digital Convergence/LAPIX Image Processing and Computer Graphics LabFederal University of Santa CatarinaBrazil Demirci Bio-Acoustic-MEMS in Medicine(BAMM)Laboratory Stanford University School of MedicineCanary Center at Stanford for Cancer Early DetectionPalo AltoCAUSA Present Address:Department of Biomedical Engineering Faculty of Engineering Bas¸kent UniversityAnkaraTurkey VisionLab Master in Applied ComputingUniversity of Itajaı´ValleyBrazil CErTI Foundation FlorianopolisBrazil

In this paper,an irregular displacement-based lensless wide-field microscopy imaging platform is presented by combining digital in-line holography and computational pixel super-resolution using multi-frame *** samples are illuminated by a nearly coherent illumination system,where the hologram shadows are projected into a complementary metal-oxide semiconductor-based imaging *** increase the resolution,a multi-frame pixel resolution approach is employed to produce a single holographic image from multiple frame observations of the scene,with small planar *** are resolved by a hybrid approach:(i)alignment of the Lr images by a fast feature-based registration method,and(ii)fine adjustment of the sub-pixel information using a continuous optimization approach designed to find the global optimum *** method for phase-retrieval is applied to decode the signal and reconstruct the morphological details of the analyzed *** presented approach was evaluated with various biological samples including sperm and platelets,whose dimensions are in the order of a few *** obtained results demonstrate a spatial resolution of 1.55 μm on a field-of-view of<30 mm^(2).

关键词： digital in-line holography image registration lensless imaging point-of-care platform pixel super-resolution

3D tomographic analysis of equatorial plasma bubble using GNSS-TEC data from Indonesian GNSS Network

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Earth and Planetary Physics 2025年第1期9卷 127-136页

作者： Ihsan Naufal Muafiry Prayitno Abadi Teguh N.Pratama Dyah r.Martiningrum Sri Ekawati Yuandhika GWismaya Febrylian FChabibi Gatot HPramono research Center for Climate and Atmosphere Indonesian National Research and Innovation Agency(BRIN)BandungIndonesia Indonesian Geospatial Information Agency(BIG) JakartaIndonesia Dept.of Physics Faculty of ScienceUniversiti Teknologi MalaysiaJohor BahruMalaysia Dept.Earth Planet Sci. Hokkaido UniversitySapporoJapan School of Electrical Engineering Telkom UniversityBandungIndonesia

Equatorial Plasma Bubbles(EPBs)are ionospheric irregularities that take place near the magnetic *** most commonly occur after sunset during the equinox months,although they can also be observed during other *** phenomenon significantly disrupts radio wave signals essential to communication and navigation *** national network of Global Navigation Satellite System(GNSS)receivers in Indonesia(>30°longitudinal range)provides an opportunity for detailed EPB *** explore this,we conducted preliminary 3D tomography of total electron content(TEC)data captured by GNSS receivers following a geomagnetic storm on December 3,2023,when at least four EPB clusters occurred in the Southeast Asian *** and extracted TEC depletion with a 120-minute running average were then used as inputs for a 3D tomography *** 2D spatial distribution consistently captured the four EPB clusters over *** tomography results were validated through a classical checkerboard test and comparisons with other ionospheric data sources,such as the Global Ionospheric Map(GIM)and International reference Ionosphere(IrI)*** of the results demonstrates the capability of the Indonesian GNSS network to measure peak ionospheric *** findings highlight the potential for future three-dimensional research of plasma bubbles in low-latitude regions using existing GNSS networks,with extensive longitudinal coverage.

关键词： EPB Indonesian GNSS Network 3D tomography

Artificial intelligence in andrology-fact or fiction:essential takeaway for busy clinicians

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Asian Journal of Andrology 2024年第6期26卷 600-604页

作者： aldo E Calogero Andrea Crafa rossella Cannarella ramadan Saleh rupin Shah Ashok Agarwal Department of Clinical and Experimental Medicine University of CataniaCatania 95123Italy Global Andrology Forum Moreland HillsOH 44022USA Glickman Urological and Kidney Institute Cleveland Clinic FoundationClevelandOH 44195USA Department of Dermatology Venereology and AndrologyFaculty of MedicineSohag UniversitySohag 82524Egypt Ajyal IVF Center Ajyal HospitalSohag 82511Egypt Division of Andrology Department of UrologyLilavati Hospital and Research CentreMumbai 400050India Cleveland Clinic Foundation ClevelandOH 44195USA

Artificial intelligence (AI) is revolutionizing the current approach to medicine. AI uses machine learning algorithms to predict the success of therapeutic procedures or assist the clinician in the decision-making process. To date, machine learning studies in the andrological field have mainly focused on prostate cancer imaging and management. However, an increasing number of studies are documenting the use of AI to assist clinicians in decision-making and patient management in andrological diseases such as varicocele or sexual dysfunction. Additionally, machine learning applications are being employed to enhance success rates in assisted reproductive techniques (ArTs). This article offers the clinicians as well as the researchers with a brief overview of the current use of AI in andrology, highlighting the current state-of-the-art scientific evidence, the direction in which the research is going, and the strengths and limitations of this approach.

关键词： andrology artificial intelligence assisted reproductive technique machine learning male infertility