Results 51 to 60 of about 847 (152)

Preimplantation Genetic Testing in the 21st Century: Uncharted Territory

Clinical Medicine Insights: Reproductive Health, 2013
The past hundred years have given birth to arguably the most profound changes in society, medicine, and technology the world has ever witnessed. Genetics is one such field that has enjoyed a meteoric rise during this time.
Paul R. Brezina MD, MBA
doaj   +2 more sources

An attractive alternative to prenatal diagnosis: a case report of preimplantation genetic testing in familial cardiomyopathy

AJOG Global Reports
Familial hypertrophic cardiomyopathy is an autosomal dominant familial inherited heart disease caused by mutations in the sarcomere protein that affects nearly 1 in 500 people.
Shubhra Pandey, MBBS, DGO, FRM, Parth Khandhedia, MBBS, DGO   +1 more
doaj   +1 more source

Preimplantation genetic testing: Its evolution, where are we today?

Journal of Human Reproductive Sciences, 2018
Preimplantation genetic testing (PGT) is an early form of prenatal genetic diagnosis where abnormal embryos are identified, thereby allowing transfer of genetically normal embryos.
Firuza Rajesh Parikh, Arundhati Sitaram Athalye, Nandkishor Jagannath Naik, Dattatray Jayaram Naik, Rupesh Ramesh Sanap, Prochi Fali Madon   +5 more
doaj   +1 more source

Reproductive Challenges of the Ageing Female: A Comprehensive Narrative Review

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Changes in societal norms over the last few decades have resulted in novel family planning trends, notably delayed childbearing and increased maternal age at the birth of the first child. Despite advances in reproductive medicine, ageing poses significant challenges.
Sofia Bitzika, Meletios P. Nigdelis, Angelos Daniilidis, Erich‐Franz Solomayer, Irene Lambrinoudaki, Efstratios M. Kolibianakis, Dimitrios G. Goulis   +6 more
wiley   +1 more source

International Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema

Allergy, EarlyView.
ABSTRACT Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families.
Henriette Farkas, Inmaculada Martinez‐Saguer, Konrad Bork, Anastasios E. Germenis, Anete S. Grumach, Hanga Réka Horváth, Andrea Luczay, Andrea Zanichelli, Markus Magerl, Stephen Betschel, Emel Aygören‐Pürsün, Jonathan A. Bernstein, Isabelle Boccon‐Gibod, Teresa Caballero, Mauro Cancian, Sandra Christiansen, Danny M. Cohn, Francisco Contreras, Sansanee Craig, Camelia Isaic, Ankur Jindal, Constance H. Katelaris, Hilary J. Longhurst, Andrew MacGinnitie, Jonny Peter, Grzegorz Porebski, Avner Reshef, Dinh Van Nguyen, Bruce Zuraw, Anthony J. Castaldo, Henrik Balle Boysen, Timothy Craig, the Hereditary Angioedema Working Group (HAWK Group), Adil Adatia, Fiorella Adrianzen, Shimalee Andarawewa, Sladjana Andrejevic, Gabriel Emmanuel Arce‐Estrada, Ecem Ay, Adil Bahadir, Noemi Anna Bara, Marko Barešić, Krasimira Baynova, Shira Benor, Juliette Besson, Dharmagat Bhattarai, Patricia Bigas, Alexis Bocquet, Laurence Bouillet, Nicholas Brodszki, Thomas Buttgereit, Rosario Cabañas, Regis Campos, Asuman Çamyar, Orlane Chol, Stefan Cimbollek, Monica Colque Bayona, Cascia Day, Mats de Lange, Alex Fam, Davide Firinu, Tomas Freiberger, Johana Gil‐Serrano, Delphine Gobert, Dawn Goodyear, Maria del Mar Guilarte Clavero, Svetlana Hadvabova, David Hagin, Roman Hakl, George Harmat, Mensuda Hasanhodzic, Gocki Jacek, Joshua Jacobs, Rashmi Jain, Milos Jesenak, Amin Kanani, Daniela Kapustová, Boris Karanovic, Paul Keith, Tamar Kinaciyan, Pavlina Kralickova, Marcin Kurowski, Krzysztof Kuziemski, Rolando Laurel‐Laurel, Iris Leibovich‐Nassi, Gabriela Leon Zambrana, Ramon Lleonart, Lorena Lorenzo, Ferhat Maksudov, Ania Manson, Dusanka Markovic, Jayne McGucken, Nihal Mete Gokmen, Radovan Mijanovic, Vania Maria Miranda Saavedra, Irene Modestou, Sandra Nieto, Nora Nilsson, Patrik Nordenfelt, Francesca Perego, Angelica Petraroli, Elsa Phillips‐Angles, Alicia Prieto‐García, Michel Raguet, Marc Riedl, Matija Rijavec, Solange Rodrigues Valle, Yaryna Romanyshyn, Antoine Saut, Riccardo Senter, Branislav Šlenker, Marta Sobotkova, Peter J. Spaeth, Marcin Stobiecki, Linda Sundler Björkman, Mireille‐Maria Suttle, Agnes Szilágyi, Paola Triggianese, Kassiani Tzeli, Martina Vachová, Anna Valerieva, Solange Valle, Lilian Varga, Walter A. Wuillemin, Patrick Yong, Zhi Yuxiang, Liudmyla Zabrodska, Radana Zachova, Julia Zharankova   +128 more
wiley   +1 more source

Meiosis and preimplantation genetic testing

World Journal of Advanced Research and Reviews, 2023
This commentary was mainly written to clarify a fundamental concept related to meiosis, which is the type of cell division for the production of gametes. Meiosis consists of two nuclear and cell divisions without an intermediate phase, starting with a diploid cell while giving rise to four haploid cells.
Georgios Iatrakis, Dimitrios Iatrakis, Eirini Orovou, Evangelia Antoniou   +3 more
openaire   +2 more sources

Testicular SIRT1 Loss Reveals an Aging‐Like Proteomic Landscape and Precipitates Reproductive Deterioration

Andrology, EarlyView.
ABSTRACT Background Advanced paternal age is associated with reduced male fertility and testicular dysfunction. Among the molecular regulators involved in aging, SIRT1, a NAD+‐dependent deacetylase, plays a pivotal role in maintaining oxidative balance and cellular homeostasis.
María Iniesta‐Cuerda, Jiřina Havránková, Hedvika Řimnáčová, Jiří Moravec, František Liška, Martin Knytl, Milena Králíčková, Jan Nevoral   +7 more
wiley   +1 more source

Preimplantation Genetic Testing

Obstetrics & Gynecology, 2020
ABSTRACT: Preimplantation genetic testing comprises a group of genetic assays used to evaluate embryos before transfer to the uterus. Preimplantation genetic testing-monogenic is targeted to single gene disorders, and preimplantation genetic testing-aneuploidy is a broader test that screens for aneuploidy in all chromosomes, including the 22 ...
openaire   +4 more sources

Overview of ADPKD in Pregnancy

Kidney International Reports
Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder that often affects patients in their third to fifth decades of life and is characterized by kidney cysts, chronic kidney disease (CKD), hypertension, and hepatic cysts.
Ruth E. Campbell, Charles L. Edelstein, Michel Chonchol   +2 more
doaj   +1 more source

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 more
wiley   +1 more source