Results 51 to 60 of about 2,332 (179)

Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family. [PDF]

Mol Genet Genomic Med
Integrated phenotypic, genomic and computational analyses identified a novel homozygous IFT122 variant causing cranioectodermal dysplasia 1. Structural modeling predicts destabilization of IFT122 protein and altered interactions within the IFT‐A complex, supporting its pathogenicity.
Aljeaid D, Almadiny A, Nasser KK, Almutadares M, Issa NM.   +4 more
europepmc   +2 more sources

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. [PDF]

Nat Commun, 2015
Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural ...
Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.   +17 more
europepmc   +2 more sources

Non-immune hydrops fetalis: A practical guide for obstetricians

, 2023
IntroductionHydrops Fetalis is the accumulation of two or more fetal fluid collections, including pericardial effusion, pleural effusions, ascites and skin oedema.
Navaratnam, Kate, Kate Navaratnam, Zarko Alfirevic, Delima Khairudin, Alfirevic, Zarko, Mone, Fionnuala, Fionnuala Mone, Khairudin, Delima, Mone, Fionnuala; id_orcid   +8 more
core   +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

Intrauterine treatment of idiopathic hydrops fetalis [PDF]

, 1988
Non-immune hydrops fetalis (NIHF), caused by disorders other than feto-maternal blood group incompatibility, is the predominant form of hy-drops fetalis in developed countries [1 ...
Shimokawa, Hiroshi, J. Perinat Med, Hiroshi Shimokawa, Nakano, Hitoo, Koyanagi, Takashi, Maeda, Hirotaka, Hitoo Nakano, Hirotaka Maeda, Miyamoto, Shingo, Shingo Miyamoto, Hara, Kenji, Takashi Koyanagi, Kenji Hara   +12 more
core   +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

Mediastinal teratoma with hydrops fetalis in a newborn and development of chronic respiratory insufficiency

Radiology and Oncology, 2014
Background. Mediastinal fetal teratoma can be detected as a mass in the chest during a routine prenatal ultrasound screening. Because of the pressure on mediastinal structures it can be the cause of non-immune hydrops fetalis and polyhydramnion.
Simoncic Milanka, Kopriva Silvo, Zupancic Ziva, Jerse Maja, Babnik Janez, Srpcic Matevz, Grosek Stefan   +6 more
doaj   +1 more source

Human parvovirus B19 infection and hydrops fetalis in Rio de Janeiro, Brazil

Memorias do Instituto Oswaldo Cruz, 1996
Formalin-fixed paraffin embedded lung and liver tissue from 23 cases of non immune hydrops fetalis and five control cases, in which hydrops were due to syphilis (3) and genetic causes (2), were examined for the presence of human parvovirus B19 by DNA ...
Rita CN Cubel, Aparecida GP Garcia, Claudia S Pegado, Hilda I Ramos, Maria EF Fonseca, Jonhatan P Clewley, Bernard J Cohen, Jussara P Nascimento   +7 more
doaj   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Non-immune hydrops fetalis: etiology, pathogenesis, features of diagnosis and treatment in the fetus and newborn

Детские инфекции (Москва)
Non-immune hydrops fetalis is a polyetiological disease characterized by high perinatal mortality. The development of non-immune fetal hydrops is associated with diseases of the cardiovascular and lymphatic systems, genetic and chromosomal diseases ...
S. V. Dumova, H. A. Sarkisyan, O. L. Chugunova, I. D. Prokhorov, M. I. Nikolaeva, M. R. Globa, D. I. Nam, I. V. Zhuravleva, P. V. Shumilov   +8 more
doaj   +1 more source