First experience of hematopoietic stem cell transplantation treatment of Shwachman-Diamond syndrome using unaffected HLA-matched sibling donor produced through preimplantation HLA typing.

The only proven cure for Shwachman-Diamond syndrome (SDS) bone marrow failure is allogeneic hematopoietic stem cell transplantation (HSCT). However HSCT with donors other than HLA-identical siblings is associated with high mortality and unfavorable prognosis. This paper presents the first experience of HSCT treatment of SDS using an unaffected HLA-identical sibling produced through preimplantation genetic diagnosis (PGD).

[Bacterial infections in the early period after allogeneic bone marrow transplantation].

Aim: To study the incidence and risk factors of bacterial infections and the efficiency of empirical antibacterial therapy in patients in the early period after allogeneic hematopoietic stem cell transplantation (allo-HSCT).

Subjects And Methods: The study included 155 patients who had undergone allo-HSCT. Myeloablative conditioning was used in 39% of the patients.

Three-dimensional analysis of maxillary development in patients with unilateral cleft lip and palate during the first six years of life.

Objectives: The purpose of this work was to analyse early upper-jaw development in patients with unilateral cleft lip and palate (UCLP) treated using two different concepts and to compare shape and size developments between these two groups and a group of noncleft patients.

Materials And Methods: A total of 204 maxillary casts available for this study from 50 UCLP patients were analyzed for upper-jaw development based on three-dimensional measurements performed with a Reflex Microscope from birth up to 71 months of age. Thirty-five of these 50 patients were part of an early treatment group (two-stage cleft closure with single-stage palatoplasty at an age of 10-14 months) and 15 were part of a late treatment group (two-stage cleft closure with palatoplasty at an age of 4-7 years).

Prognostic value of paroxysmal nocturnal haemoglobinuria clone presence in aplastic anaemia patients treated with combined immunosuppression: results of two-centre prospective study.

Paroxysmal nocturnal haemoglobinuria (PNH) clones are frequently detected in patients with aplastic anaemia (AA). To evaluate the prognostic role of PNH clone presence we conducted a prospective study in 125 AA patients treated with combined immunosuppressive therapy (IST). Seventy-four patients (59%) had a PNH clone (PNH+ patients) at diagnosis, with a median clone size of 0·60% in granulocytes and 0·15% in red blood cells.

[Extracorporeal photopheresis in the treatment of patients with refractory chronic graft-versus-host disease after allogeneic bone marrow transplantation].

Aim: To evaluate the efficiency of extracorporeal photopheresis (ECP) in the treatment of patients with refractory chronic graft-versus-host disease (cGVHD) after allogeneic hematopoietic stem cell transplantation (allo-HSCT).

Subjects And Methods: The study included 49 patients aged 2 to 55 years. Allo-HSCT was carried out in 38 (79%) patients with acute leukemias, 5 (10%) with chronic leukemias, 4 (8%) with myelodysplastic syndrome/myeloproliferative disease, and 2 (3%) with other hematologic diseases.