Results 81 to 90 of about 13,066 (196)
Kazan medical journal, 1930 This rare clinical form deserves to be noted not only as a casuistic material, but also because the patient with this form was sent by the TB dispensary to the sanatorium as a tuberculosis one, after 6 months of observation, with a diagnosis of B-II fibro-productive.
openaire +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen +3 more
wiley +1 more source
Treatment of paroxysmal nocturnal hemoglobinuria
Онкогематология, 2014 Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life‑threatening clonal hematological disorder caused by an acquired mutation in the phosphatidylinositol glucan (PIG)-A gene.
I. A. Lisukov +2 more
doaj +3 more sources
Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia. [PDF]
, 2017 Acquired elliptocytosis is a known but rarely described abnormality in the myelodysplastic syndromes (MDS). Here we report the case of an elderly male who was admitted to the hospital with chest pain, dyspnea, and fatigue and was found to be anemic with ...
Dwyre, Denis M +2 more
core +2 more sources
British Journal of Haematology, Volume 208, Issue 1, Page 295-303, January 2026.Summary The efficacy of ciclosporin (CsA) to treat transfusion‐independent non‐severe aplastic anaemia (TI‐NSAA) has not yet been systematically evaluated. We conducted a prospective trial in patients with TI‐NSAA treated with CsA monotherapy. CsA (3.5 mg/kg/day) was administered to patients with TI‐NSAA aged ≥16.
Ken Ishiyama +14 more
wiley +1 more source
Left-Sided Portal Hypertension: a Case Series [PDF]
, 2018 Left-sided portal hypertension is rarely found, but this condition may cause gastrointestinal tract bleeding and can be life-threatening. The exact incidence of left-sided portal hypertension is unknown as it is rarely found, approximately 1-5%, and most
Agustanti, N. (Nenny) +2 more
core
Oral Protein Therapy for the Future - Transport of Glycolipid-Modified Proteins: Vision or Fiction? [PDF]
, 2010 The reliable and early diagnosis of common complex multifactorial diseases depends on the individual determination of all (or as many as possible) polymorphisms of each susceptibility gene together with amount and type of the corresponding gene products ...
Mueller, Guenter
core +1 more source
Journal of Clinical Pharmacy and Therapeutics, Volume 2026, Issue 1, 2026.Background Ravulizumab represents the inaugural long‐acting complement C5 inhibitor that has received approval in various countries around the globe for individuals diagnosed with generalized myasthenia gravis (gMG) who are positive for anti‐acetylcholine receptor antibodies.
Yakun Wang +5 more
wiley +1 more source
Paroxysmal Nocturnal Hemoglobinuria
JAMA, 1973 A 66-year-old white man with a previously normal hematological history was studied for hemolysis during the recovery phase of acute tubular necrosis. He demonstrated a persistently worsening anemia in the absence of blood loss and had an increase of his serum-free hemoglobin. A hemolytic process consistent with paroxysmal nocturnal hemoglobinuria (PNH)
E, Polli +4 more
openaire +3 more sources
Clinical Management Issues, 2019 Paroxysmal Nocturnal Hemoglobinuria (PNH) originates from an acquired genetic defect in a multipotent hematopoietic stem cell that becomes stem-cell-like in its ability to survive, expand, and self-renew.
Garrick Laudin, Lizemarie Wium
doaj +1 more source