Haemoglobinopathies and newborn haemoglobinopathy screening in Germany.

Germany has been an immigration country since the early 1950s. In December 2007, 6.7 million non-German citizens lived in the country. However, the total number of citizens with a migration background is 15–20 million, about 9 million of whom come from countries where sickle cell disease and thalassaemias are frequent. In a country with 82 million inhabitants health authorities are not worried by the presence of probably 1000–1500 sickle cell and 450 transfusion-dependent thalassaemia patients, and therefore no screening or preventive measures have been taken so far on a national scale. There are plans for a pilot project (1 year) to screen all newborns for sickle cell disease in obstetric hospitals in 4–5 cities with more than 20% migrants. Funding and lack of an infrastructure to provide counselling are major problems

Pulmonary, Gonadal, and Central Nervous System Status after Bone Marrow Transplantation for Sickle Cell Disease

We conducted a prospective, multicenter investigation of human-leukocyte antigen (HLA) identical sibling bone marrow transplantation (BMT) in children with severe sickle cell disease (SCD) between 1991 and 2000. To determine if children were protected from complications of SCD after successful BMT, we extended our initial study of BMT for SCD to conduct assessments of the central nervous system (CNS) and of pulmonary function 2 or more years after transplantation. In addition, the impact on gonadal function was studied. After BMT, patients with stroke who had stable engraftment of donor cells experienced no subsequent stroke events after BMT, and brain magnetic resonance imaging (MRI) exams demonstrated stable or improved appearance. However, 2 patients with graft rejection had a second stroke after BMT. After transplantation, most patients also had unchanged or improved pulmonary function. Among the 11 patients who had restrictive lung changes at baseline, 5 were improved and 6 had persistent restrictive disease after BMT. Of the 2 patients who had obstructive changes at baseline, 1 improved and 1 had worsened obstructive disease after BMT. There was, however, significant gonadal toxicity after BMT, particularly among female recipients. In summary, individuals who had stable donor engraftment did not experience sickle-related complications after BMT, and were protected from progressive CNS and pulmonary disease

Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: Indications and management recommendations from an international expert panel

Thalassemia major and sickle cell disease are the two most widely disseminated hereditary hemoglobinopathies in the world. The outlook for affected individuals has improved in recent years due to advances in medical management in the prevention and treatment of complications. However, hematopoietic stem cell transplantation is still the only available curative option. The use of hematopoietic stem cell transplantation has been increasing, and outcomes today have substantially improved compared with the past three decades. Current experience world-wide is that more than 90% of patients now survive hematopoietic stem cell transplantation and disease-free survival is around 80%. However, only a few controlled trials have been reported, and decisions on patient selection for hematopoietic stem cell transplantation and transplant management remain principally dependent on data from retrospective analyses and on the clinical experience of the transplant centers. This consensus document from the European Blood and Marrow Transplantation Inborn Error Working Party and the Paediatric Diseases Working Party aims to report new data and provide consensus-based recommendations on indications for hematopoietic stem cell transplantation and transplant management. \ua9 2014 by the Ferrata Storti Foundation

Ventilation and infiltration in high-rise apartment buildings

Air flow, air leakage measurements and numerical simulations were made on a 13-story apartment building to characterize the ventilation rates for the individual apartments. Parametric simulations were performed for specific conditions, e.g., height, orientation, outside temperature and wind speed. Our analysis of the air flow simulations suggest that the ventilation to the individual units varies considerably. With the mechanical ventilation system disabled and no wind, units at the lower level of the building have adequate ventilation only on days with high temperature differences, while units on higher floors have no ventilation at all. Units facing the windward side will be over-ventilated when the building experiences wind directions between west and north. At the same time, leeward apartments did not experience any fresh air-because, in these cases, air flows enter the apartments from the corridor and exit through the exhaust shafts and the cracks in the facade. Even with the mechanical ventilation system operating, we found wide variation in the air flows to the individual apartments. In addition to the specific case presented here, these findings have more general implications for energy retrofits and health and comfort of occupants in high-rise apartment buildings

Discrepancy between impedance and immunofluorescence platelet counting has implications for clinical decision making in patients with idiopathic thrombocytopenia purpura

This study investigated whether differences occur between the impedance and immunofluorescence methods for platelet quantification in idiopathic thrombocytopenia purpura (ITP). Immunofluorescence gave a platelet count >50% higher than the impedance test in 9/35 (26%) patients, of which 4/35 (11%) were >100% higher. The clinical severity of thrombocytopenia was changed as a result of the immunofluorescence test in 14/35 (40%) patients. Neither mean platelet volume nor platelet distribution width predicted impedance/immunofluorescence method discrepancy. It is suggested that immunofluorescence platelet counts should be performed on all ITP patients when the implementation of a therapeutic or diagnostic intervention is being considered