Results 31 to 40 of about 750 (161)

Primary Congenital Lymphedema Complicated by Hydrops Fetalis: A Case Report and Review of the Literature

Case Reports in Obstetrics and Gynecology, 2013
Introduction. Primary congenital lymphedema is a rare disorder associated with insufficient development of lymphatic vessels. Usually most patients present with lower extremity edema seen sonographically.
Paul Singh, Matthew Connell
doaj   +1 more source

Fetal hydrops and anemia as signs of Down syndrome

Journal of the Formosan Medical Association, 2011
Before the 20th week of gestation, the most common cause of nonimmune hydrops fetalis is chromosomal abnormalities. Herein, we report a case of fetal hydrops, anemia, and intrauterine growth retardation that presented at 27 weeks of gestation with a ...
Yavuz Emre Şükür, Murat Gözüküçük, Vugar Bayramov, Acar Koç   +3 more
doaj   +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, Volume 46, Issue 5-6, Page 636-642, May 2026.
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

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, Volume 101, Issue 2, Page 751-803, April 2026.
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

Thymic teratoma presenting as non-immune hydrops fetalis

Autopsy and Case Reports, 2018
Teratomas are one of the most frequent tumors in the pediatric population. They occur anywhere along the midline of the body, following the course of the embryonic germ cell ridge.
Ameer Hamza, Eleftherios Vouyoukas, Ian Jacob Anderson, Martha Jaye Higgins   +3 more
doaj   +1 more source

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
wiley   +1 more source

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

Molecular Genetics & Genomic Medicine, 2020
Background Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF,
Mascha Schönfeld, Mareike Selig, Alexandra Russo, Christine Lindner, Christoph Kampmann, Eva Mildenberger, Catharina Whybra   +6 more
doaj   +1 more source

Multiple Mononeuropathy Secondary to Parvovirus B19 Infection: A Case Series

European Journal of Neurology, Volume 33, Issue 3, March 2026.
Parvovirus B19 infection can cause multiple mononeuropathy in young and immunocompetent patients, predominantly affecting sensory nerves, with frequent involvement of the median, fibular, and ulnar nerves, as well as occasional cranial nerve impairment.
Julian Theuriet, Maud Michaud, Guillaume Fargeot, Céline Labeyrie, Anaïs Grosset, Maude Bucy, Ludivine Kouton, Florian Hubben, Véronique Manel, Florent Cluse, Adrien Bohic, Nicolas Rodriguez, Philippe Petiot, Geneviève Billaud, Vincent Fabry, Pascal Cintas, Thierry Maisonobe, Karine Viala, Rabab Debs, Dimitri Psimaras, Sarah Leonard‐Louis, Benjamin Terrier, Alina Dorobat, Céline Tard, Stéphane Darteyre, Alex Vicino, Marie Théaudin, Clovis Adam, Françoise Bouhour, Timothée Lenglet, Grégory Destras, Nathalie Streichenberger, Antoine Pegat   +32 more
wiley   +1 more source

Hematologic disorders and nonimmune hydrops fetalis

Seminars in Perinatology, 1995
Hematologic disorders are implicated in approximately 10% to 27% of cases of nonimmune hydrops fetalis. In almost all of these disorders, anemia leading to heart failure, edema, ascites, and anasarca is the final common denominator. The etiology of the anemia in these cases can be conveniently divided into two categories: (1) excessive erythrocyte loss
M O, Arcasoy, P G, Gallagher
openaire   +2 more sources

Early infantile form of galactosialidosis presenting as nonimmune hydrops fetalis: a case report

Journal of Pediatric and Neonatal Individualized Medicine, 2022
Case report: A 20-year-old woman was referred to our tertiary center due to hydrops fetalis (HF) diagnosed at 24 weeks of gestation. She had severe acne and underwent treatment with isotretinoin up to a month before pregnancy.
Rita Gomes, Bebiana Sousa, Cláudia Falcão Reis, Anabela Bandeira, Lurdes Morais, Sandra Pereira, Sara Leite, Carmen Carvalho   +7 more
doaj   +1 more source