Results 41 to 50 of about 8,111 (187)

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.

, 2003
We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome.
BOCCARDO, FRANCESCO, HENNEKAM RC, SERRA G., TADDEI G, TOMA P, BELLINI C, CAMPISI, CORRADINO, MAZZELLA M, ARIONI C   +8 more
core   +3 more sources

A Practical and Efficient Multiplex qPCR Assay for Simultaneous Detection of HLA Cross‐Reactive Groups and Human Platelet Antigens

Journal of Clinical Laboratory Analysis, Volume 40, Issue 18, September 2026.
This assay enables multiplex genotyping of HLA‐CREGs and HPA alleles from whole blood using qPCR with an integrated parallel negative control. Results are interpreted based on amplification curves and Ct values, with validity dependent on strict quality control criteria for both the target reactions and the negative control.
Huimin Ji, Kaihao Feng, Yunping Xu, Le Chang, Ying Yan, Jie Ma, Yi Liu, Jinfeng Zeng, Huizhen Sun, Lunan Wang   +9 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, 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

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

Nonimmune Hydrops Fetalis due to Congenital Xerocytosis [PDF]

Journal of Perinatology, 2004
Hereditary xerocytosis is a rare hemolytic anemia in which erythrocytes are dehydrated due to a loss of potassium and water through their cell wall membrane. In adults, this condition leads to a mild-to-moderate hemolysis. We report a case of hydrops fetalis secondary to hereditary xerocytosis.
María Pilar, Vicente-Gutiérrez, Inés, Castelló-Almazán, Maria Dolors, Salvía-Roiges, José Manuel, Rodríguez-Miguélez, Joan-Lluis, Vives-Corrons, Josep, Figueras-Aloy, Xavier, Carbonell-Estrany   +6 more
openaire   +2 more sources

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

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

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

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

Hemophagocytic Lymphohistiocytosis Presenting with Nonimmune Hydrops Fetalis [PDF]

Journal of Perinatology, 2004
Hydrops fetalis is a condition of diverse etiologies. An association between hemophagocytic lymphohistiocytosis (HLH) and hydrops fetalis has not been reported in the English literature. We describe an intrauterine case of HLH in an infant who presented with hydrops fetalis at 32 weeks gestation.
Colleen Ann, Malloy, Carol, Polinski, Serhan, Alkan, Ricarchito, Manera, Malliswari, Challapalli   +4 more
openaire   +2 more sources