Results 61 to 70 of about 10,888,325 (178)

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Clinical Genetics, EarlyView.
A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato, Jun Takayama, Yoshiko Suto, Yuji Noguchi, Sosuke Kinomura, Yusuke Ishizuka, Shun Watanabe, Koichi Kikuchi, Rui Makino, Mai Yoshida, Yuji Oe, Tasuku Nagasawa, Koji Okamoto, Takehiro Suzuki, Mariko Miyazaki, Shinya Kawaguchi, Takashi Suzuki, Takaaki Abe, Shigeo Kure, Atsuo Kikuchi, Tetsuhiro Tanaka   +23 more
wiley   +1 more source

Hydrops Fetalis [PDF]

, 2019
Tujuan: Melaporkan kasus hydrops fetalis Metode: Laporan kasus Hasil: Kasus pasien wanita usia 36 tahun, dengan diagnosa G3P1A1H1 gravid 23-24 minggu + Hydrops Fetalis + bekas SC 1x.
Roza Sriyanti, Jofril Azmi
core   +1 more source

Congenital Skin Sloughing in the Setting of Hydrops Fetalis Secondary to Congenital Diffuse Lymphangiectasia Mimicking Epidermolysis Bullosa

Pediatric Dermatology, EarlyView.
ABSTRACT We present a case where the combination of severe hydrops fetalis, lymphangiectasia, and skin desquamation created a clinical picture that masqueraded as epidermolysis bullosa (EB). A neonate presented at birth with severe hydrops fetalis and extensive skin sloughing.
Sophia Rafferty, Kate L. Wilson, Jennifer B. Mancuso, Nicole Larsen, Grace A. Osborne, Jacqueline Meadow   +5 more
wiley   +1 more source

Mapping obstetric biobanks: A scoping review highlighting gaps in the study of alloimmunized pregnancies

Transfusion, EarlyView.
Abstract Background Maternal red cell alloimmunization can cause hemolytic disease of the fetus and newborn (HDFN), yet prediction of disease severity remains limited. Biobanks that link pregnancy biospecimens with clinical and laboratory data could accelerate translational research; however, the landscape of relevant obstetric biobanks has not been ...
Orlin Chowdhury, Chantal Armali, Catherine Devion, Sasha Kyser‐Burke, Akash Gupta, Noor Niyar N. Ladhani, Harley Meirovich, Hubert Tsui, Noah Zweig, Yulia Lin, Heather VanderMeulen   +10 more
wiley   +1 more source

A case of fetal hydrops: prenatal diagnosis and neonatal management

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2018
Hydrops fetalis (HF) is a serious fetal condition defined as an abnormal fluid accumulation in fetal extravascular compartments and body cavities caused by either immune or non immune conditions.
Roberta Granese, Grazia Foti, Caterina Iozzo, Alessia Giofrè, Ilenia Panasiti, Gabriella D'Angelo, Lucia Marseglia, Eloisa Gitto   +7 more
doaj   +1 more source

Molecular characterization of CD36 deficiency in blood donors of Middle Eastern and African origin reveals transcript‐level defects beyond genomic variants

Transfusion, EarlyView.
Abstract Background The increasing diversity of blood donor populations has created new challenges for transfusion services worldwide. The identification of donors lacking relevant high‐prevalence antigens is becoming increasingly important to ensure compatible blood products for alloimmunized patients and to support the development of rare donor ...
Sarah Petermann, Inga Stellmacher, Brigitte K. Flesch, Tanja Rehling, Irina Häcker, Marc F. Schetelig, Alexander Carbol, Lambros Kordelas   +7 more
wiley   +1 more source

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. [PDF]

PLoS ONE, 2017
The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in ...
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan   +12 more
doaj   +1 more source

NON - IMMUNE HYDROPS FETALIS: A CASE REPORT

Journal of Evolution of Medical and Dental Sciences, 2015
Hydrops fetalis is a serious fetal condition characterized by abnormal accumulation of fluid in fetal soft tissues and serous cavities. There are two types of hydrop fetalis:Immune hydrops fetalis (IHF). Non-immune hydrops fetalis (NIHF). We report a case of NIHF delivered by a 18 year old primi gravida.
Suzanne Lalduhawmi Colney, Thounaojam Naranbabu Singh, Jaishree Devi A, Rajkumari Ajita   +3 more
openaire   +1 more source

Global, Regional and National Burden of Hemolytic Disease and Other Neonatal Jaundice, 1980/90‐2021, and Projections to 2050: A Global Burden of Disease Study 2021

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background and Aims Hemolytic disease of the fetus and newborn and other forms of neonatal jaundice remain important causes of morbidity and mortality among children under five worldwide. Despite improvements in prevention and treatment such as Rh screening, phototherapy, and exchange transfusion, the burden remains uneven across regions. This
Chalie Mulugeta, Tadele Emagneneh, Betelhem Ejigu, Esuyawkal Mislu, Mulat Ayele, Aynalem Yetwale, Ketemaw Negese, Abebaw Alamrew   +7 more
wiley   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, Volume 46, Issue 11, Page 1752-1759, October 2026.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source