Results 61 to 70 of about 202,059 (264)

A Population‐Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala, Riitta Niinimäki, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Pauliina Utriainen, Henri Aarnivala   +8 more
wiley   +1 more source

Administering Blinatumomab via Continuous Intravenous Infusion in Pediatric Patients—A Single‐Institution Retrospective Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Blinatumomab, a CD19xCD3 bispecific T‐cell engager, has become standard therapy for children with de novo B‐cell acute lymphoblastic leukemia (B‐ALL). This retrospective review describes the experience of blinatumomab administration in pediatric patients.
Julia M. Hurley, Ryleigh Krueger, Kellie Joyce, James Stanley, Mary Waskerwitz‐Freyer, Marielle Klunder, David J. Hoogstra   +6 more
wiley   +1 more source

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W

Cell & Bioscience, 2017
Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene.
Jackson Gao, Leera D’Souza, Keith Wetherby, Christian Antolik, Melissa Reeves, David R. Adams, Santa Tumminia, Xinjing Wang   +7 more
doaj   +1 more source

Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report

BMC Neurology, 2023
Background Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene.
Xi Chen, Piao Zhang, Lijuan Wang, Yuhu Zhang   +3 more
doaj   +1 more source

Infant Embryonal CNS Tumors: Molecular Insights and Treatment Considerations for Contemporary Pediatric Neuro‐Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan, Mariah Wright‐Nadkarni, Mohamed S. Abdelbaki, Girish Dhall   +3 more
wiley   +1 more source

Medullary thyroid carcinoma exclusively associated with a homozygous RET V778I pathogenic variant: a case report with review of literature

Endocrine Journal
Medullary thyroid carcinoma (MTC) can occur sporadically or as a hereditary disease. The latter often presents with a multiple endocrine neoplasia type 2 (MEN2) phenotype and is caused by germline-activating pathogenic variants in the RET proto-oncogene,
Minoru Kihara, Akira Miyauchi, Takashi Akamizu   +2 more
doaj   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome

Kidney International Reports
Introduction: X-linked Alport syndrome (XLAS) is a well-known monogenetic kidney disease caused by pathogenic variants in the COL4A5 gene. Routine analysis of exons and direct flanking regions fails to identify a pathogenic variant in 10% to 20% of ...
Dipti Rao, Bartholomeus T. van den Berge, Anneke T. Vulto-van Silfhout, Ilse M. Rood, Joanna A.E. van Wijk, Arend Bökenkamp, Layla Damen, Patrick Rump, Jasper J. van der Smagt, Jitske Jansen, Bart Smeets, Jack F. Wetzels, Rutger J. Maas, Michel van Geel   +13 more
doaj   +1 more source

Experience With Performing Rheocarna Therapy via the Single‐Needle Method for Treatment of Chronic Limb‐Threatening Ischemia

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction This study investigated the safety and efficacy of single‐needle Rheocarna therapy for chronic limb‐threatening ischemia (CLTI) with wounds. Methods Six patients with CLTI involving ulcers unresponsive to revascularization underwent single‐needle Rheocarna treatment.
Yasutaka Yamauchi, Rie Tanaka, Reona Kawahira, Shingo Nabeta, Kouhei Naoi, Kazuhito Kitajima, Akira Wada, Tomonari Takagi, Norihiko Ohura, Akira Miyamoto   +9 more
wiley   +1 more source

Establishing an Apheresis Medicine Program in a Resource‐Constrained Setting: A 5‐Year Experience From Lagos, Nigeria

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Establishing a comprehensive apheresis medicine program in a resource‐constrained setting presents significant structural, financial, and logistical challenges. Despite the growing clinical importance of apheresis services globally, published experience from sub‐Saharan Africa remains sparse.
Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Rasheed A. Balogun   +4 more
wiley   +1 more source