Rare Diseases Symptoms Automatic Extraction

Pre-transplant manipulation processing of umbilical cord blood units: Efficacy of Rubinstein's thawing technique used in 40 transplantation procedures.

[omenn syndrome]

Umbilical cord blood (UCB) is a valid alternative to be used in transplanted patients. Limitations of the use of stem cells depends on the small number of cells available; this is the reason why UCB can be used only in very low-weight patients. In this study we have evaluated the efficacy of cellular manipulation before transplant and in particular, before thawing the units through the Rubinstein method.We have evaluated the results obtained after thawing 40 UCB to be used for as many patients affected by several pathologies (21 ALL, 6 AML, 3 MDS, 2 LNH, 2 histiocytosis, 2 β-thalassemia, 1 Chédiak-Higashi syndrome, 1 Fanconi anemia, 1 Wiskott-Aldrich syndrome and 1 Omenn syndrome).After thawing, nucleated cells (NC) mean recovery was 76.81% (SD±15.41). The quantity of NC obtained was 124.29×107 (SD±43.18) and in only 5 cases the number of NC after the procedure was lower than the requested graft dose. Among the last ones, in two cases only we did not achieve the target after manipulation. The post-manipulation cellular viability was 83.48% (SD±10.6). For all the units shipment complied with all the necessary procedures; in fact the temperature never rose above -120°C.In our study we highlighted the efficacy of UCB thawing technique, with the same method defined in 1995 at the New York Blood Centre that guarantees an excellent NC recovery and maintains a high level of cell viability.

Diseases presenting "small number" symptom

  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • aromatase deficiency
  • cadasil
  • carcinoma of the gallbladder
  • cohen syndrome
  • cushing syndrome
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • dracunculiasis
  • erdheim-chester disease
  • focal myositis
  • gm1 gangliosidosis
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • locked-in syndrome
  • malignant atrophic papulosis
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • pleomorphic liposarcoma
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • thoracic outlet syndrome
  • triple a syndrome
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

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