Results 51 to 60 of about 129,927 (262)

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

Acute Neurological Events in Children With Hemoglobin SC Disease: A Multicenter Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurological manifestations in children with hemoglobin SC (HbSC) disease remain insufficiently characterized, particularly regarding acute events. The aim of this study was to describe the spectrum and frequency of acute neurological events in a multicenter cohort of children with HbSC disease.
Célia Paulmin, Bérengère Koehl, Audrey Maudoux, Hanine Mansour, Marie‐Hélène Odievre, Nathalie Garrec, Emilie Georget, Cécile Arnaud, Slimane Allali, Lydia Doumdo, Marie Belloy, Corinne Guitton   +11 more
wiley   +1 more source

The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

International Journal of Neonatal Screening, 2016
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible ...
Barry Wolf
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

Generation of induced pluripotent stem cell line (MIPTi002-A) derived from a patient with a heterozygous type mutation in the CDC73 gene

Stem Cell Research
CDC73-related disorders are inherited in an autosomal dominant manner. An individual with a CDC73-related disorder may have inherited the disorder from an affected parent or developed it as the result of a de novo pathogenic variant of CDC73.
Almaqdad Alsalloum, Walaa Asaad, Julia Krupinova, Evgenii Kegeles, Polina Sirotkina, Alexandra Panova, Olga Mityaeva, Pavel Volchkov   +7 more
doaj   +1 more source

Association Between Individualized Education for Kidney Replacement Therapy Modality Selection and Peritoneal Dialysis Initiation: A Cross‐Sectional Study

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Peritoneal dialysis (PD) is an established home‐based kidney replacement therapy (KRT), but its uptake remains low in Japan. We evaluated whether individualized education in a dedicated outpatient clinic was associated with the initiation of PD.
Yasuko Ito, Ryuichi Yoshimura, Takaki Yamauchi, Yuta Funakoshi, Hirotaka Sonoda, Seiji Kobayashi, Hiroyuki Terawaki, Takafumi Ito   +7 more
wiley   +1 more source

Eye involvement in inherited metabolic disorders

Therapeutic Advances in Ophthalmology, 2020
Inherited metabolic disorders are a large group of rare disorders affecting normal biochemical pathways. Many metabolic disorders can present with symptoms affecting the eye, and eye disorders can evolve later in the natural history of an already ...
James E. Davison
doaj   +1 more source

Hepatitic inherited metabolic disorders

Seminars in Diagnostic Pathology, 2006
Primary metabolic disorders are a disparate group of diseases that may or may not be accompanied by hepatic manifestations. Those with liver involvement may show a range of histopathologic changes. Proper histologic diagnosis requires correlation with clinical and laboratory data, including evaluation for mutations either via serum protein ...
University of Florida College of Medicine, Gainesville, Florida. ( host institution ), Arroyo, May ( author ), Crawford, James M. ( author )   +2 more
openaire   +3 more sources

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source