Article
Hematology
Eun-Ji Choi, Young-Uk Cho, Eun-Hye Hur, Han-Seung Park, Yunsuk Choi, Jung-Hee Lee, Kyoo-Hyung Lee, Miyoung Kim, Sang-Hyun Hwang, Seongsoo Jang, Chan-Jeoung Park, Eul-Ju Seo, Je-Hwan Lee
Summary: This study compared the clinical and genetic characteristics of CCUS and lower-risk MDS, and found that patients with CCUS who had high-risk features had similar or worse overall survival compared to lower-risk MDS patients. These findings suggest that patients with certain clinical or genetic features of CCUS should be regarded and treated as lower-risk MDS.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Pediatrics
Andres Tajan, Andrea Riebel, Maria Jesus Zavala, Lily Quiroz, Paula Monzon, Leopoldo Ardiles, Paola Krall, Paula Lehmann
Summary: This article presents a case of a young girl who initially presented with severe anemia and was suspected of having myelodysplastic syndrome, but genetic testing results were negative. Further analysis led to a diagnosis of Pearson syndrome, a life-threatening condition associated with mitochondrial DNA abnormalities. The article emphasizes the importance of genetic testing and understanding the nature of mitochondrial disorders.
PEDIATRIC NEPHROLOGY
(2023)
Article
Rheumatology
Young-Eun Kim, Soo Min Ahn, Ji Seon Oh, Seokchan Hong, Chang-Keun Lee, Bin Yoo, Yong-Gil Kim
Summary: This study investigated the incidence and risk factors for myelodysplastic syndrome (MDS) in patients with rheumatologic diseases. The results showed that SLE is a significant risk factor for MDS among patients with rheumatologic diseases. A lower haemoglobin level at the time of diagnosis of rheumatologic disease was associated with the future development of MDS.
Article
Hematology
YunZu Michele Wang, Michaela Loveless, Erica Miller, Adam S. Nelson, Parinda A. Mehta, Stella M. Davies, Kasiani C. Myers
Summary: The long-term outcomes of adults with Fanconi anaemia have improved with advances in stem cell transplantation and improved follow-up and screening guidelines. The phenotype of survivors may differ from typical presentation of the disease. Endocrine complications and the development of solid tumors complicate adulthood for these patients. Further analysis is needed to characterize the phenotype of untransplanted adults with Fanconi anaemia.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Review
Genetics & Heredity
Emma R. Woodward, Stefan Meyer
Summary: Fanconi anaemia is a hereditary chromosomal instability disorder caused by pathogenic variants in BRCA2 and BRCA1 genes, which are strongly associated with specific types of cancers and may also play a role in non-syndromic cancer predisposition in children.
Article
Radiology, Nuclear Medicine & Medical Imaging
Toshiki Tasaki, Tetsuya Tsujikawa, Naoko Hosono, Tetsuya Mori, Akira Makino, Yasushi Kiyono, Hidehiko Okazawa, Takahiro Yamauchi
Summary: Quantitative whole-body bone marrow imaging using F-18-FLT PET helps distinguish AA from MDS and assess the severity of AA and prognosis of MDS.
CLINICAL NUCLEAR MEDICINE
(2022)
Article
Hematology
Moonjung Jung, Parinda A. Mehta, Caroline S. Jiang, Rasim O. Rosti, Gabriel Usleaman, Joel M. Correa da Rosa, Francis P. Lach, Erica Goodridge, Arleen D. Auerbach, Stella M. Davies, Agata Smogorzewska, Farid Boulad
Summary: Among siblings with Fanconi anaemia, there is significant correlation in hematological progression, while constitutional abnormalities do not show strong concordance except for kidney abnormalities and microcephaly.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Editorial Material
Hematology
James A. Connelly, Bipin N. Savani
Summary: The optimal approach for haploidentical haematopoietic cell transplant in Fanconi anaemia patients is still uncertain due to the rarity of the disease, increased sensitivity to DNA-damaging agents, and high risk of severe graft-versus-host disease. This commentary explores the outcomes in T-cell replete haploidentical haematopoietic cell transplant and discusses the potential drawbacks of eliminating total body irradiation in these patients.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Oncology
Emmanuel Gyan, Sylvain Thepot
Summary: The prognostic evaluation of myelodysplastic syndromes has undergone significant changes over time, and the IPSS-M score has become a reference for the prognosis of MDS.
BULLETIN DU CANCER
(2023)
Article
Hematology
Blanche P. Alter, Neelam Giri, Lisa J. McReynolds, Burak Altintas
Summary: Fanconi anaemia (FA) is an inherited bone marrow failure syndrome with a high cancer predisposition rate. This study compared FA patients diagnosed in childhood (FA-PED) and those diagnosed as adults (FA-ADULT), and found that FA-ADULT patients had distinct features and were more likely to develop head and neck squamous-cell carcinoma and/or gynaecological cancers compared to FA-PED patients. It suggests that adult haematology-oncology centers should consider FA diagnosis in patients with early-onset head and neck squamous-cell carcinoma or gynaecological cancer.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Review
Hematology
Andrew D. Hughes, Peter Kurre
Summary: Recent advances have led to a better understanding of the clonal architecture of the aging hematopoietic system and its impact on bone marrow failure disorders, including Fanconi anemia (FA). Studying clonality in FA may provide insights into the predisposition to cancer and rapid decline in regenerative reserve. These findings could also have broader implications for hematopoietic stem cell biology in other diseases with clonal restrictions.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Review
Pediatrics
Anna Luiza Braga Albuquerque, Rafael dos Santos Borges, Ana Flavia Conegundes, Erika Emmylaine dos Santos, Frederico Moreira Man Fu, Clara Tavares Araujo, Pedro Alves Soares Vaz de Castro, Ana Cristina Simoes e Silva
Summary: Fanconi-Debre-de Toni syndrome is a disease that affects the function of the proximal convoluted tubule in the kidney. It can be inherited or secondary to systemic disorders. In children, it is often associated with energy supply disorders, and early diagnosis and treatment can improve prognosis and quality of life.
WORLD JOURNAL OF PEDIATRICS
(2023)
Article
Medical Laboratory Technology
Yulia O. Davydova, Elena N. Parovichnikova, Irina V. Galtseva, Alina V. Kokhno, Valentina N. Dvirnyk, Alla M. Kovrigina, Tatyana N. Obukhova, Nikolay M. Kapranov, Ksenia A. Nikiforova, Svetlana A. Glinkina, Vera V. Troitskaya, Elena A. Mikhailova, Zalina T. Fidarova, Tatyana N. Moiseeva, Elena A. Lukina, Nina V. Tsvetaeva, Olga F. Nikulina, Larisa A. Kuzmina, Valeriy G. Savchenko
Summary: The study aimed to determine the optimal MFC approach for MDS and found that iFC is a useful diagnostic tool in MDS, especially in low-grade MDS. The results support the utility of iFC in the diagnosis of MDS.
CYTOMETRY PART B-CLINICAL CYTOMETRY
(2021)
Article
Medicine, General & Internal
Bibi Areefa Alladin, Pheona Mohamed-Rambaran, Vijay Grey, Andrea Hunter, Pranesh Chakraborty, Matthew Henderson, Jennifer Milburn, Laurie Tessier
Summary: The study aimed to assess the feasibility of implementing a NBS programme in Guyana for congenital hypothyroidism (CH) and haemoglobinopathies (HBG). Results showed a screen positive rate of 0% for CH and 0.3% for HBG in Guyanese infants. Future work should focus on conducting larger pilots to inform diagnosis and treatment guidelines for the Guyanese population.
Article
Health Care Sciences & Services
Ofelia A. Alvarez, Hector Rodriguez-Cortes, E. Leila Jerome Clay, Sandra Echenique, Julie Kanter, John J. Strouse, Talia Buitrago-Mogollon, Cheryl Courtlandt, Laura Noonan, Ifeyinwa Osunkwo
Summary: The EMBRACE SCD project aimed to increase the prescription rate of hydroxyurea (HU) for children with sickle cell anemia (SCA) through a quality improvement framework and patient education. The project successfully increased the prescription rate of HU by assessing reasons for acceptance and refusal of HU.
BMJ QUALITY & SAFETY
(2023)
