Severe central nervous system thrombotic events in hemoglobin Sabine patient

Hemoglobin (Hb) Sabine is a rare, unstable Hb variant resulting from the point mutation in codon 91 (CTG --> CCG) of beta-globin gene. We report a case of Hb Sabine patient with mild hemolytic anemia, unusually high Hb F level and severe central nervous system thrombotic disturbances. We have tried to elucidate possible genetic background of this unusual Hb Sabine phenotype. Extremely high level of Hb F and rather mild anemia in our patient could be partially explained by the presence of G gamma Xmn I polymorphism. This case of Hb Sabine, unlike all other reported to date, shows extremely severe thromboembolic complications. It is our opinion that the hypercoagulable state described in thalassemia is not the only factor responsible for this specific clinical state. The presence of MTHFR C677T mutation in heterozygous state found in our patient and unstable Hb Sabine molecules could contribute to development of thromboembolic phenomena. However, it remains unclear whether other factors participate in pathogenesis of the disease. In this paper we emphasize different genetic background of father and son both affected with Hb Sabine, but with markedly different severity of the disease.     

An evaluation of polymer rotary instruments' ability to remove healthy, non-carious dentine

The aim of this study was to confirm that Smartprep burs do not cut non-carious, healthy dentine. Twenty non-carious extracted molars were trimmed with a diamond bur to remove enamel and to create a flat dentine surface. A new Smartprep bur (RA # 4) was applied to each tooth for 30 seconds. As a control, a new number three round stainless steel bur was applied to each tooth. The mean dentine loss was 4.25 mg (range 1.4 - 9 mg) for Smartprep burs and 12.21 mg (range 7.6 - 16.5 mg) for stainless steel burs. The Smartprep burs remove significantly less dentine than stainless steel burs.     

False anastomotic aneurysms

This retrospective study covers the period from 1991 to 2002, during which 3,623 patients were operated on because of aneurysmal or occlusive disease of aortoiliac and femoropopliteal segments. Among them, 87 patients (2.4%) developed a false anastomotic aneurysm in the 12-year follow-up period and were treated operatively. Most frequently, in 53 patients (6.9%), a false anastomotic aneurysm developed after aortobifemoral bypass performed owing to aortoiliac occlusive disease. The cause of false anastomotic aneurysm was infection in 21 cases (24.7%); resection and revascularization were performed with a Dacron graft in 46 cases (52.9%), with a polytetrafluoroethylene graft in 10 cases (11.5%), and with the great saphenous vein in 16 cases (18.4%). Homograft implantation in 4 patients (4.6%) or extra-anatomic bypasses in 11 cases (12.6%) were performed when graft infection was suspected. Of 87 patients who underwent surgery, 74 (85.5%) had good early results without infection, reintervention, limb loss, and mortality. The presence of infection as a cause of false anastomotic aneurysm and comorbidity increased the mortality rate significantly after the reoperation, whereas the type of graft used in treatment had no influence on early results.     

Incidence of FLT3 and nucleophosmin gene mutations in childhood acute myeloid leukemia: Serbian experience and the review of the literature

Mutations in the fms-like tyrosine kinase 3 (FLT3) gene (internal tandem duplication (ITD) and point mutation in the tyrosine kinase domain, FLT3/D835) as well as the nucleophosmin (NPM1) gene are the most common abnormalities in adult acute myeloid leukemia (AML). Their significance in pediatric AML is still unclear. In this study we evaluated the frequency of FLT3 and NPM1 mutations in childhood AML. We also examined clinical features and outcome of these patients. FLT3 and NPM1 mutations were analysed in 42 and 37 childhood AML patients, respectively, using polymerase chain reaction (PCR) and direct sequencing. FLT3 mutations were detected in 4/42 patients (9.5%). The frequencies of FLT3/ITD and FLT3/D835 were the same, 2/42 (4.7%). NMP1 mutations were found in 1/37 patients (2.7%). FLT3 gene mutations were correlated with induction failure. Here we report the results of the study of FLT3 and NPM1 gene mutations in childhood AML patients in Serbia. Low frequencies of these molecular markers point out that these abnormalities are rare in this cohort of patients. Comparative study of data on NPM1 mutations in childhood AML revealed that various NPM1 gene mutation types are associated with childhood AML. Our findings as well as previously reported data, contributes to a hypothesis of different biology and etiology of adult and childhood AML. More extensive studies of NPM1 and FLT3 mutations in childhood AML are needed to determine their biological and clinical importance.     

A matter of words: Impact of verbal and nonverbal information on impression formation in high-functioning autism

Clinical intuition and resent research (Senju et al., 2009) suggests that adults with high-functioning autism (HFA) are able to use explicit verbal information but fail to react upon subtle nonverbal cues in order to understand others and navigate social encounters.In order to investigate the relative influence of different domains of socially relevant information in HFA as compared to matched controls, we used verbal and nonverbal stimuli as a basis for an interpersonal impression formation task. Results demonstrated a reduced sensitivity to nonverbal cues in individuals with HFA when consideration of conflicting information from the different domains was required, although HFA participants could well evaluate nonverbal stimuli in isolation. Thus, in a more complex experimental setting nonverbal information had a comparably weak impact on the impression formation confirming that social processing is preferentially based on verbal information in HFA.