TITLE

Thrombocytopenia Absent Radius (TAR) Syndrome

AUTHOR(S)
Azemi, Mehmedali; Kolgeci, Selim; Berisha, Majlinda; Ismaili-Jaha, Vlora; Spahiu, Lidvana; Grajçevci-Uka, Violeta
PUB. DATE
June 2011
SOURCE
Medical Archives / Medicinski Arhiv;2011, Vol. 65 Issue 3, p178
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Aim of the work was a presentation of one case with hrombocytopenia absent radius (TAR) syndrome. Methods: Diagnosis of TAR syndrome has been established on the basis of pedigree, laboratory findings (hemogram, platelet count, peripheral smear), bone marrow biopsy, radiological examination and karyotype. Results: A patient was a two months old female child, hospitalized due petechial bleeding, upper limb anomalies and diarrhea. Laboratory findings: red blood cell count was 2.1 x 1012/L, hemoglobin value was 62 g/L, white blood cell count indicated the existence of leukemoid reaction (40.0 x 109/L), the eosinophyle count at the leukocyte formula was increased (3%), bleeding time was prolonged (10'). he platelets at the peripheral blood smear were rarely present, whereas the megacaryocytes appeared in the bone marrow aspiration in the decreased number, or did not appear at all. At the radiological examination of the upper limbs, radius was absent in both shoulders. Conclusion: TAR syndrome is a rare hereditary disease. Obligatory clinical manifestations are: thrombocytopenia and bilateral absence of the radius. Prenatal diagnosis can be established during the 16th week of gestation by ultrasound and if it is continued with the pregnancy it is preferred that the platelet transfusion be given intrauterine. he mortality rate depends on the age of the patient and the platelet count.
ACCESSION #
66347084

 

Related Articles

  • SCT in Jehovah's Witnesses: the bloodless transplant. Sloan, J. M.; Ballen, K. // Bone Marrow Transplantation;May2008, Vol. 41 Issue 10, p837 

    Auto-SCT and Allo-SCT are procedures conventionally associated with intensive transfusion support. This dependence has historically prevented SCT in individuals with religious or personal objections to transfusion. More recently, a growing body of literature supports the feasibility of...

  • Thrombopoietin. Kaushansky, Kenneth // New England Journal of Medicine;09/10/98, Vol. 339 Issue 11, p746 

    Focuses on the physiology of thrombopoietin and megakaryocyte production, and how this information can impact the usefulness of thrombopoietin in the treatment of patients with bone marrow failure. Thrombocytopenia in the United States and the units of platelets used annually to reduce the risk...

  • Plateletpheresis and Plasmapheresis In the Routine Operation of a Children's Hospital Blood Bank. Djerassi, Isaac; Alvarado, Jorge; Wolman, Irving // Clinical Pediatrics;Aug1964, Vol. 3 Issue 8, p466 

    Focuses on the significance of platelet transfusions in controlling hemorrhage in thrombocytopenic states. Analysis on the blood samples of the patients; Concerns over the safety of plateletpheresis; Characterization of the red blood cells.

  • Thrombocytopaenia and intraventricular haemorrhage in very premature infants: a tale of two cities. von Lindern, Jeannette S.; Hulzebos, Christian V.; Bos, Arend F.; Brand, Anneke; Walther, Frans J.; Lopriore, Enrico // Archives of Disease in Childhood -- Fetal & Neonatal Edition;Sep2012, Vol. 97 Issue 5, pF348 

    Objective To study whether the incidence of intraventricular haemorrhage (IVH) in very premature infants (<32 weeks gestation) with thrombocytopaenia is lower when using a liberal platelet-transfusion guideline compared with a restrictive guideline. Study design A retrospective cohort study...

  • Retinopathy of Prematurity Treatment and Vitreous Hemorrhage. Funnell, Charlotte L.; Simmons, Ian G. // Journal of Pediatric Ophthalmology & Strabismus;Mar/Apr2008, Vol. 45 Issue 2, p118 

    Two cases of hemorrhagic retinopathy of prematurity associated with thrombocytopenia are presented. The negative prognosis of vitreous hemorrhage in retinopathy of prematurity and the option of platelet transfusions are discussed.

  • Thrombocytopenia in an elderly patient: case report.  // Reactions Weekly;5/29/2004, Issue 1003, p6 

    Presents a case report involving a man who developed immune thrombocytopenia after long-term treatment with amlodipine. Reference to a study by E. Garbe et al, published in the January 2004 issue of "VoK Sanguinis"; Impact of the start of prednisolone treatment and platelet transfusion on the...

  • Platelet transfusion dose did not affect bleeding in hypoproliferative thrombocytopenia. Cona, Christen; Harris, Jason; Lawrence, Leah; Southall, Jennifer // Hem/Onc Today;3/25/2010, Vol. 11 Issue 6, p32 

    The article discusses research on the impact of platelet transfusion on bleeding in patients with hypoproliferative thrombocytopenia, by S. J. Slichter and colleagues, published in the 2010 issue of the "New England Journal of Medicine."

  • Platelet alloantibody specificities in multiply transfuseed patient. Madhankumar, B. K. // Asian Journal of Transfusion Science;Jul-Dec2007, Vol. 1 Issue 2, p105 

    Background of the study: Patients who are given multiple platelet transfusions over a period of time for thrombocytopenia which is a specific feature in certain clinical diseases develop refractoriness. Platelet count increment deteriorates even though the adequate dose of platelet is...

  • Are there more tricks in the bag for treating thrombocytopenia? Leavitt, Andrew D. // Journal of Clinical Investigation;Nov2010, Vol. 120 Issue 11, p3807 

    Thrombocytopenia, an abnormally low number of circulating platelets, results from inadequate platelet production, splenic platelet sequestration, or accelerated platelet clearance. Platelet transfusions are now the cornerstone for treating thrombocytopenia. With an ever-expanding demand for...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics