Results 41 to 50 of about 3,937 (163)

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, Volume 40, Issue 15, August 2026.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect

Haematologica, 2008
Background Hereditary spherocytosis is a very heterogeneous form of hemolytic anemia. The aim of this study was to relate the type of molecular defect with clinical and hematologic features and response to splenectomy using information from a large ...
Mariagabriella Mariani, Wilma Barcellini, Cristina Vercellati, Anna Paola Marcello, Elisa Fermo, Paola Pedotti, Carla Boschetti, Alberto Zanella   +7 more
doaj   +1 more source

The association between inflammatory markers in routine blood counts at 1 year and attention‐deficit/hyperactivity disorder (ADHD): A case–control study

Journal of Child Psychology and Psychiatry, Volume 67, Issue 8, Page 1404-1411, August 2026.
Background Attention‐deficit/hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder marked by persistent patterns of inattention, disorganization, hyperactivity, and impulsivity. Increasing evidence implicates immune‐inflammatory processes in its etiology, with observed associations between ADHD and infectious diseases, allergic ...
Eugene Merzon, Ariel Israel, Shelly Salminis‐Linzen, Eli Magen, Akim Geishin, Shlomo Vinker, Ilan Green, Avivit Golan‐Cohen, Shai Ashkenazi, Stephen V. Faraone, Abraham Weizman, Iris Manor   +11 more
wiley   +1 more source

Acquired spherocytosis in the setting of myelodysplasia

Leukemia Research Reports, 2022
Hereditary spherocytosis (HS) is the most prevalent red blood cell (RBC) membrane disorder. We report a rare case of acquired SPTB spherocytosis coinciding with a myelodysplastic syndrome associated U2AF1 mutation, neither found in germline DNA.
Linda Katharina Karlsson, Mathis Nygaard Mottelson, Jens Helby, Jesper Petersen, Andreas Glenthøj   +4 more
doaj   +1 more source

Racemisation of Amino Acids: From Synthetic Challenge to Biological Significance

ChemBioChem, Volume 27, Issue 11, 15 June 2026.
Racemisation, once considered an undesirable synthetic side reaction, also occurs naturally in amino acids and influences biological processes. Evidence links stereochemical conversion to ageing, protein turnover, and cellular development. This review examines mechanisms, control strategies in synthesis, applications and implications in physiology ...
Othman Al Musaimi
wiley   +1 more source

Hereditary Spherocytosis [PDF]

Blood, 1951
Abstract Clinical, hematologic and genetic data on 28 cases of hereditary spherocytosis are presented for the purpose of characterizing this disorder as completely as possible. On the basis of this experience it is recommended that the following typical laboratory findings be sought in establishing a diagnosis in suspected cases: (1 ...
LAWRENCE E. YOUNG, MARY JANE IZZO, RICHARD F. PLATZER   +2 more
openaire   +1 more source

Intrathoracic Extramedullary Hematopoiesis Arising in the Anterior Mediastinum

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Arrows indicate enlarging anterior (a, b) and posterior (c, d) mediastinal extramedullary hematopoiesis (EMH). EMH should be included in the differential diagnosis of anterior mediastinal lesion. Histologic confirmation is desirable to obtain definitive diagnosis and guide management.
Yoshiki Kozu, Tomoaki Kinno, Kazunori Kajino, Kenji Suzuki   +3 more
wiley   +1 more source

Bilateral macular hemorrhage in a patient with COVID-19

American Journal of Ophthalmology Case Reports, 2020
Purpose: We report a case of a patient with a known hereditary spherocytosis who developed a bilateral macular hemorrhage in concurrence with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-related respiratory syndrome.
Rossella D'Aloisio, Vincenzo Nasillo, Matteo Gironi, Rodolfo Mastropasqua   +3 more
doaj   +1 more source

Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature

BMC Medical Genomics, 2021
Background To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membrane defects.
Lichun Xie, Zhihao Xing, Changgang Li, Si-xi Liu, Fei-qiu Wen   +4 more
doaj   +1 more source