Results 31 to 40 of about 20,626 (220)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives To estimate the residual risk of fetal chromosomal aberrations in pregnant women with normal cell‐free DNA (cfDNA) screening results to refine prenatal counseling. Methods A retrospective single‐center study was conducted between April‐2017 and March‐2021. In total, 46,007 women received a normal cfDNA screening result.
Adriana I. Iglesias, Diane Van Opstal, Florentine F. Thurik, Mark Drost, Marjolein J. A. Weerts, Marieke Joosten, Karin E. M. Diderich, Vyne van der Schoot, Myrthe van den Born, Robert‐Jan H. Galjaard, Stefanie van Veen, Eveline Goedegebuur‐Zwalua, Sabina de Weerd, Anneke Dijkman, Dimitri Papatsonis, Jérôme M. J. Cornette, Sander Galjaard, Maarten F. C. M. Knapen, Krista Prinsen, Attie T. J. I. Go, Kyra E. Stuurman, Malgorzata I. Srebniak   +21 more
wiley   +1 more source

Association of abnormal placental perfusion with the risk of male hypospadias: a hospital-based retrospective cohort study

BMC Pregnancy and Childbirth, 2020
Background The effect and extent of abnormal placental perfusion (APP) on the risk of male hypospadias are poorly understood. We compared the prevalence of male hypospadias in the offspring of women with APP and quantify the extent of the APP effect on ...
Chen Zhu, Bin Zhang, Ting Peng, Ming-Qing Li, Yun-Yun Ren, Jiang-Nan Wu   +5 more
doaj   +1 more source

The optimal catheter duration in hypospadias repair: A systematic review

UroPrecision, EarlyView.
Abstract Hypospadias is the most prevalent congenital anomaly of the penis, with surgical intervention being its only treatment option. There remains ongoing debate regarding the necessity, the type, and duration of urine diversion following hypospadias repair.
Yasmine Adel Mohammed, Abdelrahman Abdelshafi, Bilal Alameddine, Hamza Elhashamy, Baha' Aldeen Bani Irshid, Mohammad Ghassab Deameh, Tarek Mohamed, Mohamed Ramez   +7 more
wiley   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

Tubularized incised plate and onlay island flap urethroplasty for management of fresh and recurrent hypospadias repair

Al-Azhar Assiut Medical Journal
Background and aim Hypospadias is the most prevalent congenital abnormality of the male genitalia, recurrent hypospadias is a term referrer to patients who have undergone unsuccessful attempts for hypospadias repair due to complications, and the proper ...
Mohamed M.A.A. Hamid, Hazem A.S. Deif, Emadeldeen S.A. Saleh, Mahmoud I.A.A. Baqi   +3 more
doaj   +1 more source

Whole-exome sequencing study of hypospadias

iScience, 2023
Summary: Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in the ...
Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Yu Ding, Zhixi Su, Yaping Wang, Hua Xie, Fang Chen   +7 more
doaj   +1 more source

Normozoospermic men in infertile couples: Potential benefit of early medical diagnostic procedures

Andrology, EarlyView.
Abstract Introduction Infertility, defined as the inability to achieve pregnancy despite regular, unprotected sexual intercourse for 1 year, affects approximately 15% of couples. Male factors contribute to 50% of these cases. The necessity of andrological evaluations for male partners of infertile couples with normozoospermia is currently under ...
Simone Bier, Anton Wolff, Michael Zitzmann, Sabine Kliesch   +3 more
wiley   +1 more source

Redo hypospadias surgery: current and novel techniques

Research and Reports in Urology, 2018
Sanjay B Kulkarni, Omkar Joglekar, Mohammad H Alkandari, Pankaj M Joshi Kulkarni Reconstructive Urology Center, Pune, India Abstract: Failed hypospadias includes patients with multiple attempts at hypospadias surgery. These present as recurrent stricture,
Kulkarni SB, Joglekar O, Alkandari MH, Joshi PM   +3 more
doaj  

THE RELATION OF HYPOSPADIAS TYPES, AGES, AND SURGICAL TECHNIQUES FOR URETHROCUTANEOUS FISTULA COMPLICATION IN CHILD HYPOSPADIAS CASES

Jurnal Urologi Indonesia, 2019
Objective: To find correlation between hypospadias type, age, and surgical technique for urethrocutaneous fistula in child hypospadias cases. Material & Method: This research was an observational analytic research with cross sectional approach.
Desy Pratiwi Widjajana, Septa Surya Wahyudi, Ika Rahmwati Sutejo   +2 more
doaj   +1 more source