Results 21 to 30 of about 257,150 (173)

First evidence of coexistence of Pseudo Pelger Huet anomaly and balanced translocation in a two decades retrospectively exposed human subject. [PDF]

Sci Rep
This study investigated the long-term stability of cytogenetic and morphological markers, including dicentric chromosomes (DC), unbalanced translocation (UT), balanced translocation (BT), and Pseudo Pelger-Huët Anomaly (PPHA), in a radiation worker ...
Chaurasia RK, Pathak RS, Goel A, Shirsath KB, Bhat NN, Khan A, Sapra BK.   +6 more
europepmc   +2 more sources

Novel Nonsense Mutation in <i>SMARCD2</i> Gene Results in Dysplasia of All Myeloid Cell Lines. [PDF]

EJHaem
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Brouwer MAE, Arensman A, Taal HR, Buddingh EP, Sun SM, Hulsmann A, Waals-Prinzen L.   +6 more
europepmc   +2 more sources

High Prevalence of Pseudo-Pelger-Huët Anomaly and Neutrophil Dysplasia in Children with Celiac Disease: A Retrospective Case-Control Study. [PDF]

Children (Basel)
Background/Objectives: Celiac disease (CD) is a chronic immune-mediated disorder associated with a broad spectrum of extraintestinal manifestations, including hematological abnormalities. Although anemia and micronutrient deficiencies are well recognized,
Kurucu B, Şahin G.
europepmc   +2 more sources

Harlequin Cells in Myeloid Neoplasm Post Cytotoxic Therapy for Gastric Primary Nasal-Type Extranodal Natural Killer/T-Cell Lymphoma. [PDF]

EJHaem
eJHaem, Volume 6, Issue 5, October 2025.
Tanaka S, Kinoshita H, Takahashi N, Ebihara Y.   +3 more
europepmc   +2 more sources

Anomalia de Pelger-Huët: um relato de caso pediátrico

Residência Pediátrica, 2022
The Pelger-Huët anomaly (PHA) is a benign, hereditary, usually autosomal dominant condition characterized by bilobulated or completely non-segmented granulocytes and excessive chromatin aggregation that can be mistaken for band cells.
Caroline Mundel, Irides Aparecida Cavalari, Ana Paula Vieira, Franciele Ani Follador, Guilherme Welter Wendt, Lirane Elize Defante Ferreto   +5 more
doaj   +1 more source

White Blood Cells in COVID-19: A Study on Viral Induced Cytopathic Changes in the Peripheral Smear [PDF]

Journal of Clinical and Diagnostic Research, 2022
Introduction: Laboratory parameters are crucial in diagnosis and prognosis of Coronavirus Disease 2019 (COVID-19). It would be of interest to explore morphological changes in infected White Blood Cells (WBCs).
Nidha Gaffoor, Archana Shetty, Aparna Muralidhar, Jessica Minal, PV Nikhil, Hima Sree Edupuganti   +5 more
doaj   +1 more source

Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients. [PDF]

Liver Int
ABSTRACT Background and Aims Since described in 2015, NBAS‐associated disease has emerged as an important cause of acute liver failure (ALF) in children. We analysed the variable expression, genotype–phenotype association, outcome and prognostic factors of the hepatic involvement.
Peters B, Schlieben LD, Brennenstuhl H, Arikan C, Bedoyan SM, Bulut FD, Crushell E, Dionisi-Vici C, Drab A, Fichtner A, Garcia AG, Fry D, Garbade SF, Hammann N, Hadzic N, Hegarty R, Jørgensen MH, Laaß M, Lainka E, Leghlam L, Lurz E, Mungan HNÖ, Pietrobattista A, Polo B, Socha P, Squires JE, Sun T, Vogel GF, Prokisch H, Kölker S, Hoffmann GF, Staufner C, Lenz D.   +32 more
europepmc   +2 more sources

Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

Molecular Genetics & Genomic Medicine, 2023
Background Biallelic pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not limited to recurrent acute liver failure, skeletal dysmorphism, susceptibility to infections, and ...
Claudia S. Priglinger, Günter Rudolph, Irene Schmid, Pascale Mazzola, Tobias B. Haack, Milda Reith, Katarina Stingl, Nicole Weisschuh   +7 more
doaj   +1 more source

Pyoderma gangrenosum associated with pseudo-Pelger-Huet anomaly in a patient with idiopathic myelofibrosis [PDF]

, 2022
Pseudo-Pelger-Huët anomaly is a condition in which almost all the granulocytes are hyposegmented and/or hypogranulated. It is typically recognized in peripheral blood smears and represents a marker of several disorders, such as myeloproliferative ...
Schena, Donatella, Antonio Furci, Furci, Antonio, Manfredo Bruni, Davide Geat, Donatella Schena, Girolomoni, Giampiero, Bruni, Manfredo, Chiara Colato, Giampiero Girolomoni, Geat, Davide, Colato, Chiara, Furci, Antonio ; Bruni, Manfredo ; Geat, Davide ; Colato, Chiara ; Girolomoni, Giampiero ; Schena, Donatella   +12 more
core   +1 more source

Phenotype and Long-Term Outcome in Recurrent Paediatric Acute Liver Failure: Systematic Review and Individual Participant Data Analysis. [PDF]

Liver Int
ABSTRACT Background and Aims Recurrent acute liver failure (RALF) in children is defined as two or more episodes of acute liver failure with complete recovery in between. Several genetic mutations are associated with this condition, including NBAS, RINT1, LARS1 and SCYL1.
Sutton H, Saban OS, Cunningham J, Bandsma R, Sayed B, Ng V.   +5 more
europepmc   +2 more sources