نتایج جستجو برای: poikiloderma with neutropenia syndrome

تعداد نتایج: 9376087  

Journal: :Blood 2013
Marlène Pasquet Christine Bellanné-Chantelot Suzanne Tavitian Naïs Prade Blandine Beaupain Olivier Larochelle Arnaud Petit Pierre Rohrlich Christophe Ferrand Eric Van Den Neste Hélène A Poirel Thierry Lamy Marie Ouachée-Chardin Véronique Mansat-De Mas Jill Corre Christian Récher Geneviève Plat Françoise Bachelerie Jean Donadieu Eric Delabesse

UNLABELLED Congenital neutropenia is a group of genetic disorders that involve chronic neutropenia and susceptibility to infections. These neutropenias may be isolated or associated with immunologic defects or extra-hematopoietic manifestations. Complications may occur as infectious diseases, but also less frequently as myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Recently, t...

Journal: :Pediatrics 2021

PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare early-onset autoinflammatory disease associated with various hematologic findings, including chronic neutropenia and pancytopenia. We report unique case of PAMI in toddler transfusion-dependent hemolytic anemia, hepatosplenomegaly, failure to thrive, developmental delay, multiple malformations. Because acute i...

Journal: :Annals of the Academy of Medicine, Singapore 2010
Philip L Tong Sujith Prasad Kumarasinghe

Annals Academy of Medicine Dear Editor, Bosentan is an endothelin-1 (ET-1) receptor antagonist approved for the treatment of pulmonary artery hypertension (PAH). Although fl ushing is a documented side effect of bosentan, the diagnosis can mimic other drug rashes and medical conditions where facial telangiectasis and/or fl ushing are prominent presentation. We present a 76-yearold woman complai...

Journal: :Indian Journal of Dermatology 2014

Journal: :Annals of oncology : official journal of the European Society for Medical Oncology 2003
W Scheithauer J McKendrick S Begbie M Borner W I Burns H A Burris J Cassidy D Jodrell P Koralewski E L Levine N Marschner J Maroun P Garcia-Alfonso J Tujakowski G Van Hazel A Wong J Zaluski C Twelves

BACKGROUND Oral capecitabine achieves a superior response rate with an improved safety profile compared with bolus 5-fluorouracil-leucovorin (5-FU/LV) as first-line treatment for patients with metastatic colorectal cancer. We report here the results of a large phase III trial investigating adjuvant oral capecitabine compared with 5-FU/LV (Mayo Clinic regimen) in Dukes' C colon cancer. PATIENT...

Journal: :Journal of the European Academy of Dermatology and Venereology : JEADV 2011
P Campolmi P Bonan G Cannarozzo N Bruscino M Troiano F Prignano T Lotti

BACKGROUND Intense pulsed light (IPL) treatment is one of the most effective procedures for patients with non-aesthetic vascular lesions in addition to signs of skin photoageing, and it has been reported as very successful in the treatment of telangiectasias, spider nevi, erythrosis, and above all, rosacea and poikiloderma. Its use is based on the principle of selective photothermolysis, which ...

Journal: :Blood 2007
Marshall S Horwitz Zhijun Duan Brice Korkmaz Hu-Hui Lee Matthew E Mealiffe Stephen J Salipante

Mutations in ELA2 encoding the neutrophil granule protease, neutrophil elastase (NE), are the major cause of the 2 main forms of hereditary neutropenia, cyclic neutropenia and severe congenital neutropenia (SCN). Genetic evaluation of other forms of neutropenia in humans and model organisms has helped to illuminate the role of NE. A canine form of cyclic neutropenia corresponds to human Hermans...

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