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Page 1
Diagnosis and management of heparin-induced thrombocytopenia.
Gruel Y, De Maistre E, Pouplard C, Mullier F, Susen S, Roullet S, Blais N, Le Gal G, Vincentelli A, Lasne D, Lecompte T, Albaladejo P, Godier A; Members of the French Working Group on Perioperative Haemostasis Groupe d’intérêt en hémostase périopératoire GIHP. Gruel Y, et al. Anaesth Crit Care Pain Med. 2020 Apr;39(2):291-310. doi: 10.1016/j.accpm.2020.03.012. Epub 2020 Apr 13. Anaesth Crit Care Pain Med. 2020. PMID: 32299756 Free article. No abstract available.
Congenital neutropenia: diagnosis, molecular bases and patient management.
Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Donadieu J, et al. Orphanet J Rare Dis. 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26. Orphanet J Rare Dis. 2011. PMID: 21595885 Free PMC article. Review.
Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia.Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (assoc …
Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia.Conge …
Management and prevention of imported malaria in children. Update of the French guidelines.
Leblanc C, Vasse C, Minodier P, Mornand P, Naudin J, Quinet B, Siriez JY, Sorge F, de Suremain N, Thellier M, Kendjo E, Faye A, Imbert P. Leblanc C, et al. Med Mal Infect. 2020 Mar;50(2):127-140. doi: 10.1016/j.medmal.2019.02.005. Epub 2019 Mar 15. Med Mal Infect. 2020. PMID: 30885541 Review.
Alternatively, a rapid antigen detection test can be paired with a thin blood film. Thrombocytopenia in children presenting with fever is highly predictive of malaria following travel to a malaria-endemic area and, when detected, malaria should be strongly considered. The …
Alternatively, a rapid antigen detection test can be paired with a thin blood film. Thrombocytopenia in children presenting with feve …
Long term follow-up of pediatric-onset Evans syndrome: broad immunopathological manifestations and high treatment burden.
Pincez T, Fernandes H, Leblanc T, Michel G, Barlogis V, Bertrand Y, Neven B, Chahla WA, Pasquet M, Guitton C, Marie-Cardine A, Pellier I, Armari-Alla C, Benadiba J, Blouin P, Jeziorski E, Millot F, Paillard C, Thomas C, Cheikh N, Bayart S, Fouyssac F, Piguet C, Deparis M, Briandet C, Dore E, Picard C, Rieux-Laucat F, Landman-Parker J, Leverger G, Aladjidi N. Pincez T, et al. Haematologica. 2022 Feb 1;107(2):457-466. doi: 10.3324/haematol.2020.271106. Haematologica. 2022. PMID: 33440924 Free PMC article.
Pediatric-onset Evans syndrome (pES) is defined by both immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) before the age of 18 years. ...
Pediatric-onset Evans syndrome (pES) is defined by both immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) …
Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.
Favier R, Akshoomoff N, Mattson S, Grossfeld P. Favier R, et al. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):239-50. doi: 10.1002/ajmg.c.31448. Epub 2015 Aug 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 26285164 Review.
In 1973, the Danish geneticist Petrea Jacobsen described a three-generation family in which the proband carried a presumed terminal deletion at the end of the long arm of chromosome 11 (11q). ...In this article, we review research describing individual causal …
In 1973, the Danish geneticist Petrea Jacobsen described a three-generation family in which the proband carried a presumed terminal …
Renal vein thrombosis in neonates: a case series of diagnosis, treatment and childhood kidney function follow-up.
Ndoudi Likoho B, Berthaud R, Dossier C, Delbet JD, Boyer O, Baudouin V, Alison M, Biran V, Hurtaud MF, Hogan J, Kwon T, Couderc A. Ndoudi Likoho B, et al. Pediatr Nephrol. 2023 Sep;38(9):3055-3063. doi: 10.1007/s00467-023-05918-w. Epub 2023 Mar 29. Pediatr Nephrol. 2023. PMID: 36988695
Among 25 treated patients, 19 (76%) received low molecular weight heparin (LMWH) as initial therapy, 2 (8%) received unfractionated heparin and 4 (16%) received fibrinolysis. ...Bleeding occurred significantly more often with fibrinolysis than with LMWH/supportive thera …
Among 25 treated patients, 19 (76%) received low molecular weight heparin (LMWH) as initial therapy, 2 (8%) received unfractionated h …
Topical cidofovir for the treatment of recalcitrant viral warts and molluscum contagiosum in Jacobsen syndrome.
Alsaleemi A, O'Connor C, Irvine AD, Leahy TR. Alsaleemi A, et al. Pediatr Dermatol. 2020 Nov;37(6):1191-1192. doi: 10.1111/pde.14355. Epub 2020 Sep 8. Pediatr Dermatol. 2020. PMID: 32897593
Jacobsen syndrome is caused by a terminal deletion on the long arm of chromosome 11 and can be associated with immunodeficiency. Patients with Jacobsen syndrome can be predisposed to cutaneous viral infections that are difficult to treat. ...
Jacobsen syndrome is caused by a terminal deletion on the long arm of chromosome 11 and can be associated with immunode …
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
Latger-Cannard V, Philippe C, Bouquet A, Baccini V, Alessi MC, Ankri A, Bauters A, Bayart S, Cornillet-Lefebvre P, Daliphard S, Mozziconacci MJ, Renneville A, Ballerini P, Leverger G, Sobol H, Jonveaux P, Preudhomme C, Nurden P, Lecompte T, Favier R. Latger-Cannard V, et al. Orphanet J Rare Dis. 2016 Apr 26;11:49. doi: 10.1186/s13023-016-0432-0. Orphanet J Rare Dis. 2016. PMID: 27112265 Free PMC article.
Bleeding tendency was mild and thrombocytopenia moderate (>50 x10(9)/L), with normal platelet volume. ...The genotype-phenotype correlations might be helpful in genetic counselling and appropriate optimal therapeutic management....
Bleeding tendency was mild and thrombocytopenia moderate (>50 x10(9)/L), with normal platelet volume. ...The genotype-phenotype co …