Results 51 to 60 of about 54,540 (236)

Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues

Diagnostics, 2021
Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities.
Valeria Cortesi, Francesca Manzoni, G. Raffaeli, G. Cavallaro, B. Fattizzo, G. Amelio, Silvia Gulden, Ilaria Amodeo, J. Giannotta, F. Mosca, Stefano Ghirardello   +10 more
semanticscholar   +1 more source

Next‐Generation Paleopathology: Using Commercial AI in Bioarchaeological Diagnosis

International Journal of Osteoarchaeology, EarlyView.
ABSTRACT Artificial intelligence encompasses computational systems capable of performing cognitive functions such as learning, reasoning, and problem‐solving. Within this domain, generative AI and large language models such as ChatGPT, Gemini, and Copilot have shown significant potential in clinical diagnostics.
Jessica Mongillo, Giulia Vescovo, Giulia Manzo, Nicoletta Zedda, Barbara Bramanti   +4 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Thrombotic Thrombocytopenic Purpura in a Patient with Klinefelter Syndrome

İstanbul Medical Journal, 2018
Thrombotic thrombocytopenic purpura (TTP) is a rare disease associated with microangiopathic hemolytic anemia, thrombocytopenia, fever, neurological disorders, and renal insufficiency pentad. It is a fatal hematologic emergency if left untreated.
Sinan Demircioğlu, Seda Yılmaz, Özlen Bektaş, Özcan Çeneli   +3 more
doaj   +1 more source

A RARE CAUSE OF ANEMIA IN ADULTHOOD CONGENITAL DYSERYTHROPETIC ANEMIA

Hematology, Transfusion and Cell Therapy, 2021
Objective: Congenital dyserythropoietic anemia is a group of diseases characterized by ineffective erythropoiesis and multinuclear erythroblasts, mostly diagnosed in childhood. Although there are 3 main types, type II is the most common.
Buğra Sağlam, Murat Albayrak, Hacer Berna Afacan Öztürk, Merih Reis Aras, Pınar Tığlıoğlu, Mesut Tığlıoğlu, Fatma Yılmaz, Senem Maral   +7 more
doaj   +1 more source

An epidemiological study on the clinico-hematological profile of pediatric patients with congenital hemolytic anemia

, 2017
Background:  Among the inherited disorders of blood, haemoglobinopathy and thalassaemia constitute a major bulk of congenital hemolytic anemia in India.
Santosh Kumar, Deepak Singh, Abhay Garg
semanticscholar   +1 more source

Prenatal Diagnosis and Management of Kaposiform Hemangioendothelioma With Kasabach–Merritt Phenomenon: Imaging Features and First Experience With Maternal Sirolimus Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the prenatal diagnosis, evolution, and perinatal management of kaposiform hemangioendothelioma (KHE) complicated by the Kasabach–Merritt phenomenon (KMP), and to report the first documented use of maternal sirolimus therapy (MST) in this setting. Methods We retrospectively reviewed four fetuses with a prenatal soft‐tissue
Antoine Fraissenon, Chris Minella, Marion Bordas‐Fournel, Anne Gaëlle Grebille, Olivia Boccara, Marie Cassart, Sarah Simon‐Locatelli, Gwenaelle André, Guillaume Canaud, Alexandre Guilhem, Sara Cabet, Laurent Guibaud   +11 more
wiley   +1 more source

Developmental Trends in Serum Iron, Transferrin, and Transferrin Saturation From Birth to 12 Months

Acta Paediatrica, EarlyView.
ABSTRACT Aim There is a need for updated reference intervals for iron status biomarkers during infancy. This study aimed to investigate reference interval trends and diurnal variation of iron, transferrin, and transferrin saturation in infants subjected to delayed cord clamping at birth (DCC). Methods Data analysis from population‐based Swedish studies,
Sara Marie Larsson, Lena Hellström‐Westas, Ulrica Askelöf, Cecilia Götherström, Magnus Domellöf, Ola Andersson   +5 more
wiley   +1 more source

Methaemoglobinaemia: From pathophysiology to contemporary clinical management

British Journal of Haematology, EarlyView.
Summary Methaemoglobin (MetHb) is an oxidised form of haemoglobin (Hb) unable to bind oxygen. Raised levels of MetHb reduce the blood's oxygen‐carrying capacity, causing potentially severe hypoxaemia and possible death. The condition arises from three main pathologies: mutations in globin genes causing Haemoglobin‐M, inherited deficiency of the enzyme ...
Alexander J. Twine, David C. Rees
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source