Results 51 to 60 of about 6,837 (184)

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Non-immune hydrops fetalis

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Non-immune hydrops fetalis (NIHF) refers to hydrops in the absence of maternal circulating red-cell antibodies, and constitutes up to 90% of all described hydrops fetalis cases.
Murat Yurdakök
doaj   +1 more source

Undetected cases after implementation of first‐trimester anomaly scan in low‐risk population: insights from the IMITAS study

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To assess the effectiveness of the first‐trimester anomaly scan (FTAS) performed as part of a centrally steered national screening program in The Netherlands by investigating false‐negative cases with a fetal structural anomaly that was not detected at the FTAS.
K. Bronsgeest, E. E. R. Lust, S. C. E. Zaaijer, L. Henneman, N. Crombag, C. M. Bilardo, R.‐J. H. Galjaard, E. Sikkel, A. K. K. Teunissen, M. N. Bekker, M. C. Haak, Collaborators, A. B. C. Coumans, A. Elvan‐Taşpınar, S. Galjaard, A. T. J. I. Go, E. van Leeuwen, G. T. R. Manten, E. Pajkrt   +18 more
wiley   +1 more source

Hydrops fetalis associated with chorioangioma and thrombosis of umbilical vein

The Turkish Journal of Pediatrics, 2009
Placental chorioangioma and thrombosis of an umbilical vein varix are rare etiologic factors of non-immune hydrops fetalis. Herein, we report a patient who had hydrops fetalis associated with placental chorioangioma and thrombosis of an umbilical ...
Ercan Sivasli, Ozlem Tekşam, Mithat Haliloğlu, Safak Güçer, Diclehan Orhan, Aytemiz Gürgey, Gülsevin Tekinalp   +6 more
doaj  

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, EarlyView.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

Ultrasound diagnosis of hydrops fetalis in consanguineous parents

PAMJ Clinical Medicine, 2020
This is a 25-year-old patient who has been married for 1 year to a first cousin. She is nulliparous and was pregnant with a first pregnancy at 27 weeks of gestation.
Ibrahima Niang, Mamadou Ly
doaj   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, EarlyView.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

A Preterm Infant with Gene Mutation Presenting with Cardiac Tamponade and Hydrops Fetalis: A Case Report [PDF]

Neonatal Medicine
Hydrops fetalis is a condition characterized by excessive fluid accumulation in the fetus, and is classified into immune and non-immune types depending on the underlying disease. Among cases of non-immune hydrops fetalis (NIHF), 15% to 20% are of cardiac
Jae Hun Jeong, Young Hyun Kim, Dong Won Lee   +2 more
doaj   +1 more source

Triage and care for women with symptoms or diagnosis of pregnancy loss between 14 + 0 and 21 + 6 weeks' gestation

International Journal of Gynecology &Obstetrics, Volume 172, Issue 1, Page 25-50, January 2026.
Abstract Mid‐trimester pregnancy loss (MTL), defined as a pregnancy loss occurring between 14 + 0 and 21 + 6 weeks of gestation, causes significant physical and emotional distress to women and presents clinical challenges to healthcare professionals. It is acknowledged that in low‐resource settings, this guideline might be applicable to births up to 28 
Caroline E. Fox, Rosinder Kaur, Kugajeevan Vigneswaran, Rachel Small, Jenny Carter, Keelin O'Donoghue, Alexander E. P. Heazell, Anna L. David, Nigel Simpson, Angharad Care, Lisa Starrs, Andrew Shennan, Catalina María Valencia González, Priya Soma‐Pillay, Leah Fitzsimmons, Adam J. Devall, Arri Coomarasamy, Mid‐trimester Pregnancy Loss Guideline Consensus Panel, Owen Arthurs, Ruth Bender‐Atik, Phil Bennett, Kirstien Boelaert, Elizabeth Bonney, Leanna Brace, Naomi Carlisle, Davide Casagrandi, Manju Chandiramani, Carolyn Chiswick, Alexandra Emms, Stella Fielder, James Goadsby, Laura Goodfellow, Jim Gray, Jemma Johns, Emma Kirk, Will Lester, Sophie Mackay, Maria Memtsa, Katie Morris, Sunbal Mukhtar, Naimah Raza, Rita Sarquis, Neil Sebire, Lucy Smith, Lucy Spencer, Amos Tetteh, Natalie Woodhead   +46 more
wiley   +1 more source

Immune hydrops fetalis [PDF]

Scripta Medica, 2015
Hydrops fetalis is a serious condition indicating a bad prognosis of affected fetuses. Incidence of immune hydropsfetalis is significantly decreasing, whereas more and more non-immune hydropsfetalisis are identified.
Jojić Dragica, Predojević-Samardžić Jelica, Guzijan Gordana, Petrović-Tepić Snežana   +3 more
doaj