176 research outputs found
Thalassemia. A few new tiles in a large mosaic
No full textThalassemia is considered the most common genetic
disorder worldwide. In Europe the disease is particularly
prevalent in inhabitants of Italy and Greece. It is also
common in South East Asia and in the Middle East,
where it represents an important economic and social
burden. In North America more than 800 patients are
included in the Registry of the National Institutes of
Health-sponsored Thalassemia Clinical Research
Network.1 Thalassemia major used to be a rapidly fatal
disease and the results obtained in terms of survival
have been striking in the more industrialized parts of
the world, while they remain disappointing in lowincome
countries.
In this issue of the journal there is one article reporting
the results, in terms of survival, in the Greek Cypriot
population,2 and two articles evaluating new approaches
to the therapy of thalassemia
Can the surgical tourniquet be used in patients with sickle cell disease or trait? A review of the literature.
No full textIntroduction: In patients with sickle cell disease, circulatory stasis, acidosis, and hypoxemia induce red cell deoxygenation and consequent sickling. Tourniquets are an important adjunct in limb surgery to obtain a bloodless field. Many local and systemic effects, due to the inflation and deflation of the tourniquet, can develop. These effects may have severe consequences if comorbidities are present. The use of a tourniquet in sickle cell patients is controversial because it may provoke vaso-occlusive complications.
Areas covered: We reviewed the literature to detect reports of the use of tourniquet in sickle cell disease or sickle trait. We found only three case reports and five case series, three of which controlled, none randomized, on the complications of tourniquet.
Expert commentary: From what we could find in the literature and contrary to what is suggested by most guidelines it appears that complications are rare. However, caution must be applied and the risk/ benefit ratio carefully considered
Cholostase recurrente benigne
No full textA 14-year-old girl with recurrent episodes of cholestatic jaundice since 7 years of age is presented. Absence of extrahepatic obstruction, recurrent character of jaundice and liver biopsy pattern suggest the diagnosis of benign recurrent cholestasis. Spontaneous variations in the clinical course of the illness make it difficult to evaluate the therapeutic value of drug
Treatment of chronic childhood immune thrombocytopenic purpura with intramuscular anti-D immunoglobulins
No full textSeven patients with chronic immune thrombocytopenic purpura (ITP) were treated with intramuscular anti-D (anti-D IgG) five times, on an alternate-day basis, or until a platelet count of 100 x 109/l was achieved, and, subsequently, when necessary to maintain platelet counts above 50 x 109/l. Five patients responded to therapy, two of whom entered long-term remission. Although signs of haemolysis were present in all patients, anaemia was never a problem. No patient developed haematomas at the site of injection. We suggest that intramuscular anti-D represent a safe and relatively inexpensive alternative to intravenous gamma globulin (IVGG) for children with severe chronic ITP
Treatment of chronic childhood immune thrombocytopenic purpura with intramuscular anti-D immunoglobulin
No full textSeven patients with chronic immune thrombocytopenic purpura (ITP) were treated with intramuscular anti-D (anti-D IgG) five times, on an alternate-day basis, or until a platelet count of 100 x 10(9)/l was achieved, and, subsequently, when necessary to maintain platelet counts above 50 x 10(9)/l. Five patients responded to therapy, two of whom entered long-term remission. Although signs of haemolysis were present in all patients, anaemia was never a problem. No patient developed haematomas at the site of injection. We suggest that intramuscular anti-D represents a safe and relatively inexpensive alternative to intravenous gamma globulins (IVGG) for children with severe chronic ITP
Successful pregnancy after bone marrow transplantation for thalassaemia
No full textBone marrow transplantation from an HLA-identical sibling can cure thalassaemia. The risk of chemotherapy-induced sterility, however, represents a deterrent for many patients already at risk of gonadal insufficiency and reduced fertility because of the effects of transfusional iron overload. We report here the first patient transplanted for thalassaemia, after ablative therapy with busulfan and cyclophosphamide, who, despite late pubertal maturation, became pregnant and delivered a full-term, normal infant
Delayed separation of an appendix-containing umbilical stump
No full textA case of delayed separation of the umbilical cord is reported. Ultrasonography and radiographic examination of the stump showed connection with the bowel. During surgery the cord was found to contain the appendix. The authors hypothesize that this anomaly represents a small omphalocele, resulting from failure of the gut to withdraw completely from the umbilical cord, or, less likely, a hernia
- …
