[Difficulties of the care of public antigen alloimmunization]. / Difficultés de la prise en charge de l'allo-immunisation anti-public.

Alloimmunization against high-frequency erythrocyte antigens is a problematic situation in terms of laboratory diagnosis, transfusion and obstetrical management. We report the case of a pregnant woman alloimmunized against public Ag. We detail the difficulties of alloantibody (Ab) identification and transfusion management of the deliveries. A 29-year-old pregnant woman was hospitalized in gynecology and obstetrics departments at 36 weeks of gestation for assessment of hydrops fetalis. Antibody identification test revealed the presence of a pan-reactive antibody. Investigations realized in CNRGS (Paris) concluded in anti-GE2+anti-RH3+autoantibody. The red cell phenotype was GE: -2,3. A therapeutic interruption of the pregnancy was indicated. A program of autologous transfusion was organized with withdrawal of 2 units of blood. The 2nd pregnancy took place normally. Before delivery, an autologous blood reserve consisting of 2 red cell packs and 2 fresh frozen plasma was withdrawn and transfused after delivery. The management of anti-public alloimmunization poses several problems. The first one is of diagnostic nature with, on the one hand, the difficulty of Ab identification by the available red cell panels and, on the other hand, the possible presence of alloantibodies of transfusional or obstetric interest masked by anti-public Ab. The second is represented by transfusional care of these patients. In the absence of a national reserve of frozen rare blood, the autologous transfusion remains the only alternative. However, it can answer only a limited number of indications and only in case of moderate blood loss.

[Motivation and sociology of blood donors in Tunisia: reality and perspectives]. / Motivation et sociologie des donneurs de sang en Tunisie : réalités et perspectives.

In Tunisia, blood donation is voluntary, anonymous and non-remunerated. The aim of the study is to analyze donor motivation and sociology in the regional center of transfusion of Sfax. Between 14 May 2007 and 23 June 2007, a total of 903 Tunisian blood donors filled a questionnaire. Among the donors, 81.8% were men and have a mean age of 34.2 years and the majority of them have an age between 18 and 29 years. The middle social class was majority (77.8%) as well as the liberal profession (65.1%). Primary and secondary education were dominant (79.3%). Among the blood donors, 41.6% were new donors and 28.6% had a history of a single donation, 50.3% were voluntary and 49.7% replacement donors. The reasons motivating the voluntary donation were solidarity (69.9%), religion (21.2%), health benefit (3.6%) and insurance for the family (5.2%). The replacement donors refuse the voluntary donation for not obvious reasons (51%), lack of availability (13.3%), difficulties of accessibility of the sites of collection (7.6%), phobia of the blood and the stings (4.02%) or by refusal of blood donation (1.79%). The information and the raising awareness of the replacement donors could change in a near future their attitudes to become voluntary and regular donors. The implication of donor associations in the organization of the collections and the promotion of the blood donation would be of considerable contribution.

Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1.

COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical characteristics resulting from such mutations have not been characterized in detail. In this study we assessed 86 patients (36 male, 50 female; mean age 13.3 years; range, 0.6 to 54 years) with COL1A1 haploinsufficiency mutations, of whom 70 were aged 21 years or less ("pediatric" patients). Birth history was positive for fracture or long-bone deformity in 12% of patients. The average rate of long-bone fracture (femur, tibia/fibula, humerus, radius/ulna) in pediatric patients was 0.62 fractures per year, one-half of which affected the tibia/fibula. Long-bone fracture rate was negatively associated with age and lumbar spine areal bone mineral density. Vertebral compression fractures were observed in 71% of the 58 pediatric patients who had lateral spine radiographs. The median number of vertebral fractures was higher for females (median 4; range, 0 to 14) than for males (median 1; range, 0 to 8) (p = 0.03). Lumbar spine areal bone mineral density was negatively associated with the severity of vertebral compression fractures, as reflected in the spine deformity index. Scoliosis was present in about 30% of pediatric patients but the Cobb angle was <30 degrees in all cases. The average final height Z-score was -1.1, representing a deficit of 8 to 10 cm compared to the general population. In summary, OI patients with COL1A1 haploinsufficiency mutations have high rates of significant skeletal involvement. Systematic follow-up of growing patients with COL1A1 haploinsufficiency mutations including radiographic screening for vertebral compression fractures and scoliosis is warranted.

[Red blood cell immunization in haemoglobinopathie: about 84 cases]. / Immunisation anti-érythrocytaire dans les hémoglobinopathies : à propos de 84 cas.

AIMS: To estimate the rate of red cell immunization in hemoglobinopathies. PATIENTS AND METHODS: Prospective study (1990-2009) about 84 patients: 44 homozygous sickle cell anemia, one heterozygous sickle cell anemia S/C, 30 thalassemia and nine sickle cell anemia-thalassemia. The mean age was 10.13 years (extremes: 1-45). The red cell units transfused were ABORH1 compatible, then RH-KELL phenotyped after 2006 and phenocompatible after alloimmunisation. The cross-match was realized using indirect antiglobuline test. Irregular red cell antibody screening was realized before every transfusional episode and the direct antiglobuline test was done when there was a poor transfusional efficiency. RESULTS: The number of red blood cells units transfused was 3545 (42.2/patient). The number of red cell antibody screening and the number of direct antiglobulin test were respectively 1474 (17.5/patient) and 272 (3.2/patient). Twenty-seven antibodies were identified (32.1%): 14 alloantibodies (16.6%, 16.6% in sickle cell disease, 16.6% in thalassemia, P=1), 16 antoantibodies (19.04%, 11.1% in sickle cell disease, 33.3% in thalassemia, P=0.018). There were three cases of association of allo- and autoantibodies. The most frequent alloantibodies were anti-RH3 and anti-KEL1 and were developed after transfusion of standard red cell units. There was no significant relation, neither between sex and risk of immunization, nor between the number of red cell units transfused and alloimmunization. On the other hand, there was a significant relation between autoimmunization and the number of red cell units transfused in thalassemia (P<0.001). CONCLUSION: This study proves the interest of using RH-KELL red cell units compatible in patients with hemoglobinopathies in order to reduce alloimmunisation rates.

[Irregular antibody testing during pregnancy in Tunisia: clinical study of 5369 women]. / Recherche des agglutinines irrégulières en milieu obstétrical en Tunisie: étude à propos de 5369 femmes.

PURPOSE OF THE STUDY: To evaluate the prevalence of alloimmunization in women followed in an obstetrical environment in Tunisia, to identify the specificities of antibodies found and to determine factors that could influence the appearance of this immunization. METHODS: We proceeded to a retrospective analysis of search for irregular antibodies in women followed up in obstetrical environment over nine consecutive years (2000-2008). The panel was officially defined and produced by the Regional Centre for Blood Transfusion in Sfax (Tunisia). RESULTS: Overall 5369 women benefited from 6575 antibody testing (average: 1.22; extremes: 1-14). The results were positive for 278 women (5.17 %), allowing to identify 216 antibodies or associations of antibodies. Among identified antibodies, those immune were found in 198 women. The rate of alloimmunization was 3.68 % (198/5369). The majority of the antibodies found was anti-Rh1, isolated or associated with another antibody, in 84.3 % of the total immunized women. The immunization of women according to the number of gestations showed a significant increasing rate ranging from 2.34 % for a first gestation to 5.27 % for four gestations or more. In addition, a significant difference was also noted between the rate of immunization in women who had received anti-Rh1 immunoglobulin and those who had not. CONCLUSION: Anti-Rh1 immunization is the most frequent in the population of studied women. This could denote of an insufficiency in pregnancies follow-up and immunoprophylaxis protocols.

[Hemogram reference values: study of 1000 healthy adults from Sfax]. / Valeurs de référence de l'hémogramme: étude chez 1000 adultes sains de la region de Sfax.

The aims of this study is to determine the hemogram reference values in a population of healthy adults of the region of Sfax, to compare our results with those from the literature, to estimate the age and sex variations in the blood count. The hemogram parameters were analyzed in 1000 blood donors. Hemogram was performed using Coulter ACT10's analyser. The differential leukocyte count was manually performed. The means of erythrocyte count, hemoglobin, haematocrit and red cell indices were significantly lower in women than in men. There was a significant variation in the red blood cell count, hemoglobin and haematocrit with age. There is also sex and age differences of the leukocyte count. The neutrophil and eiosinophil counts were higher in women than in men. The lymphocytes decreased with age in both sexes. The platelet count was significantly higher in women than in men. These results can be applied only to our local population of adults. The definition of reference values for the Tunisian population requires a study on a more diversified population, including more important number of individuals from various regions of the country.

Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.

Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder caused by heterozygous mutations in the genes encoding transforming growth factor beta receptor 1 or 2 (TGFBR1 or TGFBR2). Although an association between LDS and osteoporosis has been reported, the skeletal phenotype regarding bone mass is not well characterized. Here, we report on two LDS patients with mutations in TGFBR2. Patient 1 was a 24-year-old man who had a total of three fractures involving the left radius, the left metacarpal, and the right femur. At the age of 14 years, lumbar spine areal bone mineral density Z-score was -4.0 and iliac bone histomorphometry showed elevated bone turnover (bone formation rate per bone surface: 91 µm³/µm²/year; age-matched control values 37 [10], mean [SD]) and mildly low trabecular bone volume per tissue volume (17.2%; age-matched control values 25.7 [5.3]). Bone mineralization density distribution (BMDD) in trabecular bone was increased (Ca(Peak) 22.70 wt% Ca; age-matched control values 21.66 [0.52]). Patient 2, a 17-year-old girl, suffered from diffuse bone pain but had not sustained fractures. At 14 years of age, her lumbar spine areal bone mineral density Z-score was -3.4. Iliac bone histomorphometry at that age confirmed low bone mass (bone volume to tissue volume 10.1%, same control values as above) and high bone turnover (bone formation rate per bone surface 70 µm³/µm²/year). BMDD in trabecular bone was significantly shifted toward increased mineralization (Ca(Peak) 22.36 wt% Ca). Thus, it appears that LDS can be associated with low bone mass and high bone turnover but increased matrix mineralization of trabecular bone.

Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is based on findings in a large single-centre OI population and a review of the literature.

[Effect of preservation of the kidney on the long-term function following autotransplantation]. / Influence de la conservation d'un rein sur son devenir fonctionnel à long terme dans un modèle d'autotransplantation.

The consequences of ischaemia-reperfusion injury from kidney recipients on delayed graft function and graft survival still remain a matter of debate. Using an autotransplanted pig kidney model, the influence of trimetazidine added to two standard preservation solutions (Euro-Collins and University of Wisconsin) was studied. The renal parameters were analysed over a period of 12 weeks after transplantation. The degree of interstitial fibrosis, and the number of CD4, CD8 and macrophage positive cells were analysed at 2, 4-5 and 11-12 weeks after the transplantation. Glomerular filtration and sodium reabsorption were significantly more improved after cold-flush and preservation with trimetazidine-supplemented solutions than with trimetazidine-free solutions. The cytoprotective action of trimetazidine also reduced interstitial fibrosis and the number of infiltrating CD4 and CD8-positive cells. These results indicate that the condition of cold preservation may influence long-term kidney graft functions and that trimetazidine reduces to a certain extent the degree of interstitial fibrosis.

[Gliomas of the uterus. Apropos of 3 cases and review of the literature]. / "Gliomes" de l'utérus. A propos de trois cas et revue de la littérature.

We report three cases of uterine gliomas in young women with a past history of pregnancies and abortions. A survey of the literature revealed that the published cases also concerned young women with the identical gynecological history. The general belief is that the cause of uterine gliomas is the transplanting of fetal nervous tissue during local manipulations in early abortions. Increased numbers of abortions should lead to a higher frequency of such tumors. Transplanted embryonic glial tissue is viable at the beginning of pregnancy and provokes only a weak immunologic rejection. These tumors are benign and no case of transformation into glioblastomas has been reported.