Results 71 to 80 of about 7,830 (207)

Acquired pelvic splenosis in a pediatric patient with inflammatory bowel disease: A rare case report

JPGN Reports, Volume 6, Issue 4, Page 469-472, November 2025.
Abstract Splenosis is an acquired condition in which splenic tissue becomes implanted and grows in abnormal locations within the body, usually after the spleen has been injured or surgically removed. It is often discovered incidentally due to its asymptomatic nature.
Brad Pasternak, Joshua Pohlman, Kinza Naeem   +2 more
wiley   +1 more source

Hereditary spherocytosis: Retrospective evaluation of 65 children

The Turkish Journal of Pediatrics, 2018
Hereditary spherocytosis (HS) is a common cause of congenital hemolytic anemia in Caucasians and it could be diagnosed at any age. The aim of this study is to examine the demographic characteristics, clinical features and laboratory findings of children
Ali Güngör, Neşe Yaralı, Ali Fettah, İkbal Ok-Bozkaya, Namık Özbek, Abdurrahman Kara   +5 more
doaj   +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

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia

Movement Disorders, Volume 40, Issue 11, Page 2531-2537, November 2025.
Abstract Background ANK3 encodes ankyrin‐G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.
Reza Maroofian, Giulia Spoto, Dalila Moualek, Maha S. Zaki, Asthik Biswas, Felice D'Arco, Sajjad Biglari, Pooneh Nikuei, Joseph G. Gleeson, Meriem Tazir, Lamia Ali Pacha, Henry Houlden   +11 more
wiley   +1 more source

A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis [PDF]

, 2017
Ankyrin defects are the most common cause of hereditary spherocytosis (HS). In some HS patients, mutations in the ankyrin promoter have been hypothesized to lead to decreased ankyrin mRNA synthesis.
Bodine, David M., Eber, Stephan W., Gallagher, Patrick G., Garrett-Beal, Lisa J., Nilson, Douglas G., Weisbein, Jessica L., Wong, Clara   +6 more
core  

Genetic factors for hematological traits in pigs

Animal Genetics, Volume 56, Issue 5, October 2025.
Abstract Complete blood count with differential is a critical diagnostic tool for evaluating the physiological and health status of individuals by analyzing white blood cells, red blood cells, and platelets. While extensively used in human medicine, the application of complete blood count biomarkers in pigs remain limited.
Jiahong Sun, Emil Ibragimov, Peter Karlskov‐Mortensen, Merete Fredholm   +3 more
wiley   +1 more source

Сlinical case of hemolytic anemia combined with secondary chronic pyelonephritis and intracellular infection in a 7-year-old child

Zdorovʹe Rebenka, 2017
Hemolytic anemias are group of diseases that are characterized by decreased lifetime of erythrocytes due to their accelerated destruction caused by membrane and enzymopathies of red blood cells, defects in globin synthesis or external factors such as ...
I.G. Samoylenko, V.V. Dolinsky, M.V. Karpovich, E.N. Pavlov, E.V. Tkachenko   +4 more
doaj   +1 more source

Chromatin insulator elements: establishing barriers to set heterochromatin boundaries [PDF]

, 2012
Epigenomic profiling has revealed that substantial portions of genomes in higher eukaryotes are organized into extensive domains of transcriptionally repressive chromatin.
Adam G West, Faust, Gomos-Klein, Gráinne Barkess, Hadjur, Hawkins, Hebbes, Ortiz, Roseman, Scott   +9 more
core   +1 more source

Breaking Free From MCHC Interferences? French‐Speaking Cellular Haematology Group (GFHC) Review of Causes, Rising Trends and Practical Solutions

International Journal of Laboratory Hematology, Volume 47, Issue 5, Page 798-807, October 2025.
ABSTRACT Mean corpuscular haemoglobin concentration (MCHC) is determined by the ratio of haemoglobin concentration to haematocrit. Managing increased MCHC presents significant challenges, mainly due to variations in analytical methods and pathophysiological conditions.
Sandrine Girard, Yaël Berda‐Haddad, Chantal Brouzes, Bouchra Badaoui, Agathe Boussaroque, Alexandre Janel, Bernard Chatelain, Véronique Baccini   +7 more
wiley   +1 more source

A Case of Hereditary Spherocytosis Initially Manifested as an Aplastic Crisis Caused by Parvovirus B19 Infection

Clinical Pediatric Hematology-Oncology, 2020
Hereditary spherocytosis (HS) is the most common inherited red cell membrane disorder. Its main laboratory finding is anemia with reticulocytosis. However, in the case of an aplastic crisis, there may be no reticulocytosis, making the diagnosis of HS ...
Hyungsuk Jin, Ji Won Lee, Hee Young Ju, Hee Won Cho, Ju Kyung Hyun, Ki Woong Sung, Hong Hoe Koo, Hee-Jin Kim, Keon Hee Yoo   +8 more
doaj   +1 more source