Results 51 to 60 of about 3,349,140 (303)
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Allogeneic hematopoietic stem cell transplantation (alloHSCT) is an essential therapy for several malignant and nonmalignant diseases, but relapse and graft loss remain the principal threats to its success. Routine monitoring of chimerism and minimal residual disease (MRD) enables early detection of imminent recurrence and guides ...
Carmen Junk +10 more
wiley +1 more source
Work participation in adults with rare genetic diseases - a scoping review
BMC Public Health, 2023 Background Work participation is a crucial aspect of health outcome and an important part of life for most people with rare genetic diseases. Despite that work participation is a social determinant of health and seems necessary for understanding health ...
Gry Velvin +6 more
doaj +1 more source
Rare congenital bleeding disorders
Annals of Translational Medicine, 2018 The rare congenital bleeding disorders are a heterogeneous group of diseases which include deficiencies of fibrinogen, prothrombin and factors V, V + VIII, VII, X, XI and XIII. They are usually transmitted as autosomal recessive disorders, and the prevalence of the severe forms ranges from one case in 500,000 for factor VII up to one in 2,000,000 for ...
Franchini, Massimo +9 more
openaire +2 more sources
, 2014 The European Union has funded the development of a new disease registry for McArdle disease and other rare glyco (geno) lytic disorders presenting with exercise intolerance.
Baruch, N. +39 more
core +1 more source
Pediatric Idiopathic Multicentric Castleman Disease Is Often Severe But Responsive to Siltuximab
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Idiopathic multicentric Castleman disease (iMCD) is a potentially fatal immunologic disorder marked by widespread lymphadenopathy and inflammation. Siltuximab, an interleukin‐6 (IL‐6) inhibitor, is the only FDA‐approved treatment for adult patients with iMCD.
Bridget Austin +17 more
wiley +1 more source
Recent Advancement of Neurofibromatosis Type 1: A Narrative Review
Acta Neurologica TaiwanicaNeurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin.
Po-Yuan Huang +2 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Persons with rare disorders may experience poorer health services due to limited knowledge about rare disorders among health professionals.
Krister W. Fjermestad +3 more
doaj +1 more source
Rare disorders of penile erection [PDF]
Fertility and Sterility, 2020 This literature review presents two unusual and mystifying disorders of penile erection: painful nocturnal erections, alternatively termed sleep-related painful erections, and idiopathic stuttering priapism, a variant of recurrent ischemic priapism in which no cause is discernible. The disorders are closely related although they are distinct clinically
openaire +2 more sources
Rare chromosome disorders and their developmental consequences [PDF]
, 2009 Professionals working in disability services often encounter clients who have chromosome disorders such as Williams, Angelman or Down syndromes. As chromosome testing becomes increasingly sophisticated, however, more people are being diagnosed with very ...
Gilmore, Linda
core
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 +33 more
wiley +1 more source