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Advanced Search Results For "DIAGNOSIS"

1 - 10 of 4,135,319 results for
 "DIAGNOSIS"
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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Publication Type:Report

Source(s):Genes [Genes (Basel)] 2022 Jul 27; Vol. 13 (8). Date of Electronic Publication: 2022 Jul 27.

Abstract:Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and development of skeletal structures. The high clinical and genetic diversity in SDs cause diffic...

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In vitro fertilization with preimplantation genetic testing for monogenetic diseases versus unassisted conception with prenatal diagnosis for Huntington disease: a cost-effectiveness analysis.

Publication Type:Academic Journal

Source(s):Fertility and sterility [Fertil Steril] 2022 Jul; Vol. 118 (1), pp. 56-64. Date of Electronic Publication: 2022 May 23.

Abstract:Objective: To investigate if in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disease is cost effective for heterozygous individuals with Huntington disease vs. unassisted conception with prenatal diagnosis.Design: Cost-e...

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Deep Learning Computer-aided Polyp Detection Reduces Adenoma Miss Rate: A United States Multi-center Randomized Tandem Colonoscopy Study (CADeT-CS Trial).

Publication Type:Academic Journal

Source(s):Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association [Clin Gastroenterol Hepatol] 2022 Jul; Vol. 20 (7), pp. 1499-1507.e4. Date of Electronic Publication: 2021 Sep 14.

Abstract:Background & Aims: Artificial intelligence-based computer-aided polyp detection (CADe) systems are intended to address the issue of missed polyps during colonoscopy. The effect of CADe during screening and surveillance colonoscopy has not previously be...

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BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND).

Publication Type:Academic Journal

Source(s):Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2022 Jul; Vol. 39 (7), pp. 1433-1443. Date of Electronic Publication: 2022 Jun 04.

Abstract:Purpose: To investigate the way carriers of a BRCA1/2 pathogenetic variant make their reproductive decisions and to examine the factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND).Methods: We condu...

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Differentiation of intestinal tuberculosis and Crohn's disease through an explainable machine learning method.

Publication Type:Academic Journal

Source(s):Scientific reports [Sci Rep] 2022 Feb 02; Vol. 12 (1), pp. 1714. Date of Electronic Publication: 2022 Feb 02.

Abstract:Differentiation between Crohn's disease and intestinal tuberculosis is difficult but crucial for medical decisions. This study aims to develop an effective framework to distinguish these two diseases through an explainable machine learning (ML) model. ...

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Testicular Pain as A Warning Symptom of a Symptomatic Abdominal Aortic Aneurysm: Case Report and Review of The Literature.

Publication Type:Academic Journal

Source(s):Annals of vascular surgery [Ann Vasc Surg] 2022 Mar; Vol. 80, pp. 395.e1-395.e5. Date of Electronic Publication: 2021 Nov 19.

Abstract:Background: Isolated testicular pain is an unusual clinical presentation of symptomatic abdominal aortic aneurysms (AAA). We present two patients hemodynamically stable with an isolated acute testicular pain related to an AAA and a review of the publis...

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Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome.

Publication Type:Report

Source(s):Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2022 May; Vol. 61 (3), pp. 521-524.

Abstract:Objective: To demonstrate the picture of a woman who had three times of pregnancies but fetuses were complicated with Fraser syndrome, a rare genetic disorder with multiple congenital anomalies.Case Report: Here are three complicated pregnancies with p...

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Prenatal diagnosis and pre-implantation genetic diagnosis for cancer susceptibility conditions.

Publication Type:Academic Journal

Source(s):BJOG : an international journal of obstetrics and gynaecology [BJOG] 2022 Apr; Vol. 129 (5), pp. 760. Date of Electronic Publication: 2021 Jul 22.

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Inborn Errors of Immunity in the Premature Infant: Challenges in Recognition and Diagnosis.

Publication Type:Academic Journal

Source(s):Frontiers in immunology [Front Immunol] 2021 Dec 24; Vol. 12, pp. 758373. Date of Electronic Publication: 2021 Dec 24 (Print Publication: 2021).

Abstract:Due to heightened awareness and advanced genetic tools, inborn errors of immunity (IEI) are increasingly recognized in children. However, diagnosing of IEI in premature infants is challenging and, subsequently, reports of IEI in premature infants remai...

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Predicting benign, preinvasive, and invasive lung nodules on computed tomography scans using machine learning.

Publication Type:Academic Journal

Source(s):The Journal of thoracic and cardiovascular surgery [J Thorac Cardiovasc Surg] 2022 Apr; Vol. 163 (4), pp. 1496-1505.e10. Date of Electronic Publication: 2021 Feb 16.

Abstract:Objective: The study objective was to investigate if machine learning algorithms can predict whether a lung nodule is benign, adenocarcinoma, or its preinvasive subtype from computed tomography images alone.Methods: A dataset of chest computed tomograp...

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