Veidlapa Nr. M-3 (8)
Study Course Description

Rare blood disorders

Main Study Course Information

Course Code
RHE_042
Branch of Science
Clinical medicine
ECTS
4.05
Target Audience
Medicine
LQF
Level 8

Study Course Implementer

Course Supervisor

Residency Speciality

Speciality
Supervisor of Medical Speciality
Contacts

-

About Study Course

Objective

-

Learning Outcomes

Knowledge

1.-

Skills

1.-

Competences

1.-

Assessment

Individual work

Title
% from total grade
Grade
1.

Individual work

-
-

Examination

Title
% from total grade
Grade
1.

Examination

-
-

Study Course Theme Plan

FULL-TIME
Part 1
  1. Seminar

Modality
Location
-
-

Topics

-
  1. Seminar

Modality
Location
-
-

Topics

-
  1. Seminar

Modality
Location
-
-

Topics

-
  1. Seminar

Modality
Location
-
-

Topics

-
Total ECTS (Creditpoints):
4.05
Number of Residency Seminars:
4
Length (weeks):
4
Final Examination:
Residency exam (Theory and practice)

Bibliography

Required Reading

1.

Di Micco P. Thematic Series on Clinical Cases on Haemostatic Disorders. J Blood Med. 2020 Jan 30;11:33-34. doi: 10.2147/JBM.S243153. PMID: 32099497; PMCID: PMC6996545.

2.

Badin MS, Graf L, Iyer JK, Moffat KA, Seecharan JL, Hayward CP. Variability in platelet dense granule adenosine triphosphate release findings amongst patients tested multiple times as part of an assessment for a bleeding disorder. Int J Lab Hematol. 2016 Dec;38(6):648-657. doi: 10.1111/ijlh.12553. Epub 2016 Aug 30. PMID: 27571881.

3.

Teti A, Teitelbaum SL. Congenital disorders of bone and blood. Bone. 2019 Feb;119:71-81. doi: 10.1016/j.bone.2018.03.002. Epub 2018 Mar 6. PMID: 29522883.

4.

Hinckley J, Di Paola J. Genetic basis of congenital platelet disorders. Hematology Am Soc Hematol Educ Program. 2014 Dec 5;2014(1):337-42. doi: 10.1182/asheducation-2014.1.337. Epub 2014 Nov 18. PMID: 25696876.

5.

Shabtaie SA, Hogan AR, Slidell MB. Splenic Cysts. Pediatr Ann. 2016 Jul 1;45(7):e251-6. doi: 10.3928/00904481-20160523-01. PMID: 27403673.

6.

Erickson LA. Mantle Cell Involvement of the Spleen. Mayo Clin Proc. 2017 May;92(5):e81-e82. doi: 10.1016/j.mayocp.2017.03.006. PMID: 28473047.

7.

Mitteldorf C, Kempf W. Cutaneous pseudolymphoma-A review on the spectrum and a proposal for a new classification. J Cutan Pathol. 2020 Jan;47(1):76-97. doi: 10.1111/cup.13532. Epub 2019 Jul 31. PMID: 31237707.

8.

Miguel D, Peckruhn M, Elsner P. Treatment of Cutaneous Pseudolymphoma: A Systematic Review. Acta Derm Venereol. 2018 Mar 13;98(3):310-317. doi: 10.2340/00015555-2841. PMID: 29136262.

9.

Roy NBA, Babbs C. The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I. Br J Haematol. 2019 May;185(3):436-449. doi: 10.1111/bjh.15817. Epub 2019 Mar 5. PMID: 30836435; PMCID: PMC6519365.

10.

So CC. The significance of dyserythropoiesis. Br J Haematol. 2014 Feb;164(3):313. doi: 10.1111/bjh.12592. Epub 2013 Oct 5. PMID: 24117396.

11.

Hayward CPM. How I investigate for bleeding disorders. Int J Lab Hematol. 2018 May;40 Suppl 1:6-14. doi: 10.1111/ijlh.12822. PMID: 29741250.

12.

Hayward CP, Moffat KA. Laboratory testing for bleeding disorders: strategic uses of high and low-yield tests. Int J Lab Hematol. 2013 Jun;35(3):322-33. doi: 10.1111/ijlh.12077. Epub 2013 Mar 11. PMID: 23480172.

13.

Hayward CPM, Moffat KA, Brunet J, Carlino SA, Plumhoff E, Meijer P, Zehnder JL. Update on diagnostic testing for platelet function disorders: What is practical and useful? Int J Lab Hematol. 2019 May;41 Suppl 1:26-32. doi: 10.1111/ijlh.12995. PMID: 31069975.

14.

Brunet JG, Iyer JK, Badin MS, Graf L, Moffat KA, Timleck M, Spitzer E, Hayward CPM. Electron microscopy examination of platelet whole mount preparations to quantitate platelet dense granule numbers: Implications for diagnosing suspected platelet function disorders due to dense granule deficiency. Int J Lab Hematol. 2018 Aug;40(4):400-407. doi: 10.1111/ijlh.12801. Epub 2018 Mar 6. PMID: 29508516.

Additional Reading

1.

Zeidler C, Schwinzer B, Welte K. Congenital neutropenias. Rev Clin Exp Hematol. 2003 Mar;7(1):72-83. PMID: 14692235.

2.

Welte K, Zeidler C, Dale DC. Severe congenital neutropenia. Semin Hematol. 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461.

3.

Zeidler C, Welte K. Kostmann syndrome and severe congenital neutropenia. Semin Hematol. 2002 Apr;39(2):82-8. doi: 10.1053/shem.2002.31913. PMID: 11957189.

4.

Jamal A. Hereditary methemoglobinemia. J Coll Physicians Surg Pak. 2006 Feb;16(2):157-9. PMID: 16499818.

5.

Wickramasinghe SN. Dyserythropoiesis and congenital dyserythropoietic anaemias. Br J Haematol. 1997 Sep;98(4):785-97. doi: 10.1046/j.1365-2141.1997.2513065.x. PMID: 9326170.

6.

Delaunay J, Lolascon A. The congenital dyserythropoietic anaemias. Baillieres Best Pract Res Clin Haematol. 1999 Dec;12(4):691-705. doi: 10.1053/beha.1999.0048. PMID: 10895259.