Results 31 to 40 of about 45,305 (223)

Thrombocytopenia and hemorrhagic pleural effusion as an initial presentation of polycythemia vera

Journal of Applied Hematology, 2015
Polycythemia vera (PV) is a chronic myeloproliferative disorder in which there is an alteration in the pluripotent progenitor cell leading to excessive clonal proliferation of erythroid, myeloid and megakaryocytic progenitor cells. The natural history of
Amrish Saxena, Sheetal Bodkhe, Deepankar Mishra, Vineeta Singh   +3 more
doaj   +1 more source

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Вопросы современной педиатрии
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

Macrophage Activation Syndrome as Onset of Systemic Lupus Erythematosus: A Case Report and a Review of the Literature [PDF]

, 2015
Macrophage activation syndrome (MAS) is a potentially fatal condition. It is a rare complication of several autoimmune disorders, including systemic lupus erythematosus (SLE) and systemic juvenile idiopathic arthritis (sJIA).
Didona, Dario, Feola, Aldo, Granata, Guido, Granata, Massimo, Stifano, Giuseppina   +4 more
core   +4 more sources

Modern Clinical Guidelines for the Management of Patients with Gaucher Disease

Педиатрическая фармакология
This article presents data on the epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher disease in children. The criteria for differential diagnosis with other diseases are given.
Inga V. Anisimova, Galina V. Baydakova, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Elena A. Dobrynina, Ekaterina Yu. Zaharova, Elena V. Kaytukova, Elena V. Komarova, Sergey I, Kutsev, Alla E. Lavrova, Svetlana V. Mihaylova, Goar B. Movsisyan, Lyudmila P. Nazarenko, Leyla S. Namazova-Baranova, Ekaterina A. Nikolaeva, Tatiana M. Pervunina, Natalia L. Pechatnikova, Nelya S. Pogosyan, Aleksander S. Potapov, Aleksander A. Pushkov, Svetlana A. Repina, Kirill V. Savostyanov, Liliya R. Selimzyanova, Olga Ya. Smirnova, Natalia S. Smetanina, Tatiana V. Strokova, Andrey N. Surkov, Marina V. Fedoseenko, Tatiana T. Batysheva, Olga V. Bykova, Yuriy A. Klimov, Sergey V. Tihonov   +33 more
doaj   +1 more source

Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemia

Indian Pediatrics Case Reports, 2023
Background: Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption.
Niraj Kumar Dipak, Nadia Shagufta
doaj   +1 more source

Amodiaquine Enhances Anti‐Melanoma Efficacy of Attenuated Salmonella via Targeting Glutathione Reductase in Neutrophils

Advanced Science, EarlyView.
This study shows that Salmonella VNP20009 recruits pro‐tumor neutrophils that reduce its anticancer efficacy. Combining VNP with amodiaquine selectively eliminates these neutrophils by targeting glutathione reductase. A GR‐shRNA‐loaded VNP strain was further developed, demonstrating an innovative strategy integrating drug repurposing with synthetic ...
Wanfa Dong, Chunyuan Zhao, Chengxi Li, Lin Weng, Zehan Ji, Peiqi Li, Jiqiang Lu, Danni Liu, Anni Yu, Tianyi Jiang, Shaokai Huang, Heng Liu, Xiao Chen, Zichun Hua   +13 more
wiley   +1 more source

Familial Hemophagocytic Lymphohistiocytosis Presenting as Hydrops Fetalis

American Journal of Perinatology Reports, 2015
Background Familial hemophagocytic lymphohistiocytosis (FLH) is an autosomal recessive disorder of immune regulation that leads to a hyperinflammatory syndrome. Fetal onset FHL is extremely rare and is considered to be the most severe form of FHL.
Sota Iwatani, Kazuya Uemura, Masami Mizobuchi, Seiji Yoshimoto, Keiichiro Kawasaki, Yoshiyuki Kosaka, Masayuki Hori, Takahiro Yasumi, Hideto Nakao   +8 more
doaj   +1 more source

An unusual case of hepatosplenomegaly [PDF]

Gut, 2005
A 21 year old Asian female presented to our clinic with impaired renal function (creatinine level 217 μmol/l). There was no history of note. Physical examination elicited hepatosplenomegaly. There were no other positive findings. Urine analysis was unremarkable. …
D, Joshi, J, Dungu, J, Dunga, A, James, M M, Yaqoob   +4 more
openaire   +2 more sources

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Gaucher disease type 2 (case report)

Русский журнал детской неврологии, 2020
The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the ...
D. R. Shagieva, R. V. Magzhanov, A. R. Rakhmatullin, E. V. Sayfullina, R. G. Musin   +4 more
doaj   +1 more source