Results 121 to 130 of about 955,198 (296)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Summary of publicly-funded fertility preservation services [PDF]

To support the development of a national fertility preservation policy for Ireland, the Department of Health requested HIQA to undertake a review of publicly-funded fertility preservation services for medical reasons in selected countries.
Health Information and Quality Authority (HIQA)
core  

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

Animal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala, Mohammadjavad Rezaei‐Varmaziar, Majid Taati, Ali Soleimanzadeh, Abbas Raisi, Farshid Davoodi, Amir Ali Shahbazfar   +6 more
wiley   +1 more source

Stabilization of PUFA‐Rich Mayonnaise Against Lipid Oxidation: A Review of the Last Three Decades of Research

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT Mayonnaise, a widely consumed oil‐in‐water emulsion, is highly susceptible to lipid oxidation due to its high content of polyunsaturated fatty acids (PUFAs) and the presence of pro‐oxidant factors such as low pH and iron from egg yolk. Over the past three decades, extensive research has focused on understanding oxidation mechanisms, analytical
Sakhi Ghelichi, Betül Yesiltas, Charlotte Jacobsen   +2 more
wiley   +1 more source

Progestin-primed ovarian stimulation for oocyte cryopreservation in patients with nonmedical indications: a case–control study

Reproductive Biology and Endocrinology
Background The PPOS (Progestin Primed Ovarian Stimulation) protocol has been evaluated and has proved its effectiveness in preventing the LH (luteinizing hormone) surge.
Ophélie Sounigo, Léah Cohen Aloro, Michael Grynberg, Céleste Becquart, Maxence Majer, Vincent Puy, Christophe Sifer, Claire Vinolas, Florence Eustache, Laetita Hesters, Anne Mayeur, Isabelle Cedrin-Durnerin, Charlotte Sonigo, Maeliss Peigné   +13 more
doaj   +1 more source

Trends and outcomes of fertility preservation in patients presenting with cancer during pregnancy or postpartum—a longitudinal observational cohort study

Frontiers in Endocrinology
ObjectiveThe aim of this study was to assess the trends and outcomes of fertility preservation (FP) in women referred for FP counseling and presenting with pregnancy-associated cancer (PAC).MethodThis is a prospective cohort study of all patients ...
Hanna P. Nilsson, Riikka Bornhede, Riikka Bornhede, Anna L. V. Johansson, Kenny A. Rodriguez-Wallberg, Kenny A. Rodriguez-Wallberg   +5 more
doaj   +1 more source

2014-2015 Digital Preservation Community Survey

, 2015
The OPF (Open Preservation Foundation) conducted the 2014/2015 community survey between October 2014 and January 2015 and the results provide a detailed picture of the digital preservation landscape at that time.
Open Preservation Foundation
core   +1 more source

Rapid assessment of fern spore quality using microscale electrical conductivity testing

Applications in Plant Sciences, EarlyView.
Abstract Premise Ex situ spore banks are essential for fern conservation and research, yet traditional germination tests for assessing spore quality are time consuming and labor intensive. We explored whether electrical conductivity (EC), a rapid proxy for seed vigor, could offer an efficient alternative for evaluating fern spore quality. Methods Using
Yao‐Moan Huang, Chia‐Wen Ko, Chin‐Tzer Duh, Chu‐Mei Huang, Wen‐Liang Chiou, Tzu‐Tong Kao   +5 more
wiley   +1 more source

Herbarium‐based measurements are reliable predictors of fresh plant traits in Neotropical Myrtaceae

Applications in Plant Sciences, EarlyView.
Abstract Premise Herbarium specimens are increasingly used to extract morphological traits for ecological and evolutionary studies, yet the effects of tissue desiccation on trait measurements remain poorly understood. Here, we tested two hypotheses: (H1) whether higher tissue water content leads to greater measurement changes after herborization and ...
Yacov Kilsztajn, Lázaro Henrique Soares Moraes de Conceição, Thais Vasconcelos, Carolyn Elinore Barnes Proença, Vanessa Graziele Staggemeier   +4 more
wiley   +1 more source