Results 41 to 50 of about 6,886 (183)

Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis

Case Reports in Women's Health, 2017
Background: Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane.
Dawn M. Hannah, Terry B. Tressler, Claudia D. Taboada   +2 more
doaj   +1 more source

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

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Perinatal-lethal Gaucher disease presenting as hydrops fetalis

The Pan African Medical Journal, 2015
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis.
Emira Ben Hamida, Imene Ayadi, Ines Ouertani, Maroua Chammem, Ahlem Bezzine, Riadh Ben Tmime, Leila Attia, Ridha Mrad, Zahra Marrakchi   +8 more
doaj   +1 more source

Nonimmune Hydrops Fetalis and Early Skeletal Changes in Congenital Syphilis: Case Series and Review of Literature [PDF]

Pediatric Infectious Disease
Aim and background: Syphilis remains the most common congenital infection in the world. During pregnancy, syphilis is associated with numerous findings, including placentomegaly, hepatomegaly, polyhydramnios, fetal nonimmune hemolytic anemia, and hydrops
Kruti N Shah, Shwetal Bhatt, Vaishali Chanpura   +2 more
doaj   +1 more source

The Systematic Work Up to Identify Etiology of Non-immune Hydrops Fetalis: A perspective view of pathologist

Thai Journal of Obstetrics and Gynaecology, 2020
Non-immune hydrops (NIH) is an important condition in health service. Many etiologies of NIH have been described, but the definite cause of NIH in many cases is still reported as “unknown”. This finding may be partly explained by the inadequate
Patou Tantbirojn
doaj   +1 more source

Antenatal diagnosis and management of cystic hygroma with hydrops fetalis

MGM Journal of Medical Sciences, 2021
Cystic hygroma is a congenital thin-walled cyst that contains lymphatic fluids. Ultrasonography has helped in detecting more and more cases of cystic hygroma with fetal hydrops.
Saloni Pugalia, Shruti Shetty, Sabrina Mhapankar   +2 more
doaj   +1 more source

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

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

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