Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders. We performed a worldwide, multicentric, retrospective study to assess the bleeding complications of surgery, the preventive and therapeutic approaches adopted, and their efficacy in patients with inherited platelet disorders: the Surgery in Platelet disorders And Therapeutic Approach (SPATA) study. We rated the outcome of 829 surgical procedures carried out in 423 patients with well-defined forms of inherited platelet disorders: 238 inherited platelet function disorders and 185 inherited platelet number disorders. Frequency of surgical bleeding was high in patients with inherited platelet disorders (19.7%), with a significantly higher bleeding incidence in inherited platelet function disorders (24.8%) than in inherited platelet number disorders (13.4%). The frequency of bleeding varied according to the type of inherited platelet disorder, with biallelic Bernard Soulier syndrome having the highest occurrence (44.4%). Frequency of bleeding was predicted by a pre-operative World Health Organization bleeding score of 2 or higher. Some types of surgery were associated with a higher bleeding incidence, like cardiovascular and urological surgery. The use of pre-operative pro-hemostatic treatments was associated with a lower bleeding frequency in patients with inherited platelet function disorders but not in inherited platelet number disorders. Desmopressin, alone or with antifibrinolytic agents, was the preventive treatment associated with the lowest bleedings. Platelet transfusions were used more frequently in patients at higher bleeding risk. Surgical bleeding risk in inherited platelet disorders is substantial, especially in inherited platelet function disorders, and bleeding history, type of disorder, type of surgery and female sex are associated with higher bleeding frequency. Prophylactic pre-operative pro-hemostatic treatments appear to be required and are associated with a lower bleeding incidence.

Uveitis in the pediatric population is not so common, and the etiology is different from adults. In the present study the charts of the patients with onset of uveitis at 16 years of age or younger were reviewed in order to analyze the etiology in pediatric patients with uveitis, and to compare the results with other studies carried out on different populations. The charts of 90 cases, followed at the Uvea-Immunology Clinic of the Cukurova University Medical Faculty Department of Ophthalmology, between January 1987 and February 1996 were reviewed retrospectively. There were 47 girls, 43 boys, aged 5-20 (13.64 +/- 4.24) in the study group. The average age at onset of uveitis was 12.20 +/- 4.81, and the follow-up period was 9-98 months (21.80 +/- 11.13). Of the 90 patients 31 (34.4%) had panuveitis, 30 (33.3%) had anterior uveitis, 21 (23.3%) had posterior uveitis and 8 (8.9%) had intermediate uveitis. Only 2 (9.5%) of the patients with posterior uveitis were considered idiopathic after extensive laboratory and clinical work-up, whereas idiopathic cases constituted 48.4% of panuveitis, and 46.7% of anterior uveitis cases. Of the 90 patients an associated condition could be found in only 59 (65.6%) patients. Of these 59 patients 23 had toxoplasmosis (39%), which constituted the most common associated condition in this study. The second most common underlying cause was Behçet's disease (17%), followed by pars planitis (13.6%), Fuchs' heterochromic iridocyclitis (8.5%), JRA (5.1%), leukemia (5.1%), and herpetic eye disease (5.1%). There were single cases with Reiter, toxocariasis, traumatic uveitis, and sympathetic ophthalmia. Environmental, cultural and genetic factors may be accountable for the differences in relative frequencies of some of the associated conditions between our findings and those of previously published studies in patients with pediatric uveitis.

Background Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent. Method Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered. Results The most frequently observed mutation was HAX1 mutation (n = 78, 36.1%). A heterozygous ELANE mutation was detected in 29 patients (13.4%) in our cohort. Biallelic mutations of G6PC3 (n = 9, 4.3%), CSF3R (n = 6, 2.9%), and JAGN1 (n = 2, 1%) were also observed. Granulocyte colony‐stimulating factor treatment was given to 174 patients (80.6%). Two patients died with infectious complications, and five patients developed myelodysplastic syndrome/acute myeloblastic leukemia. The mean (± mean standard error) follow‐up period was 129.7 ± 76.3 months, and overall survival was 96.8% (CI, 94.4–99.1%) at the age of 15 years. In Turkey, severe congenital neutropenia mostly resulted from the p W44X mutation in the HAX1 gene. Conclusion In Turkey, mutation analysis should be started with HAX1, and if this is negative, ELANE and G6PC3 should be checked. Because of the very high percentage of consanguineous marriage, rare mutations should be tested in patients with a negative mutation screen.

Rhabdomyosarcomas are the most common soft tissue tumors in children. Head and neck is one of the most frequently affected site. Within the nonparameningeal, nonorbital head and neck region, rhabdomyosarcomas of the tongue are very rare. We present a 2-year-old boy diagnosed with rhabdomyosarcoma of the tongue. The child was treated with complete surgical resection and chemotherapy. He is followed up with no evidence of disease 6 months after termination of therapy. The literature on rhabdomyosarcoma of the tongue is reviewed.

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