Combined deficiency of factor V and factor VIII (F5F8D) is caused by mutations in one of 2 genes, either LMAN1 or MCFD2. Here we report the identification of mutations for 11 additional F5F8D families, including 4 novel mutations, 2 in MCFD2 and 2 in LMAN1. We show that a novel MCFD2 missense mutation identified here (D81Y) and 2 previously reported mutations (

Background: Background: Ceftriaxone, a third generation cephalosporin, is widely used for treating infection during childhood. The kidneys eliminate approximately 33-67% of this agent, and the remainder is eliminated via the biliary system. Ceftriaxone may bind with calcium ions and form insoluble precipitate leading to biliary pseudolithiasis. The aim of this study was to assess whether ceftriaxone associated nephrolithiasis develops by the same mechanism, and whether this condition is dose related. Methods: The study involved 51 children with various infections. Of these, 24 were hospitalized with severe infection and received 100 mg/kg/day ceftriaxone divided into two equal intravenous doses. The other 27 patients received a single daily intramuscular injection of 50 mg/kg/day. Serum and urine parameters were evaluated before and after treatment, and abdominal ultrasonographic examinations were also carried out before and after treatment. Results: Serum urea, creatinine, and calcium levels were normal in all patients before and after treatment. Post-treatment ultrasound identified nephrolithiasis in four (7.8%) of the 51 subjects. The stones were all of small size (2 mm). Comparison of the groups with and without nephrolithiasis revealed no significant differences with respect to age, sex distribution, duration of treatment, or dose/route of administration of ceftriaxone. The renal stones disappeared spontaneously in three of the four cases, but were still present in one patient 7 months after ceftriaxone treatment. Conclusions: Conclusions: The study showed that children taking a 7 day course of normal or high dose ceftriaxone may develop small sized asymptomatic renal stones. The overall incidence of nephrolithiasis in this study was 7.8%.

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Food allergy has been increasingly reported in children who had orthotopic liver transplantation (OLT). We aimed to conduct a prospective study to investigate the prevalence of sensitizations and food allergy in pediatric OLT recipients. We also aimed to identify potential risk factors. The study group consisted of 28 children (14 male, 14 female, mean age 4.96 +/- 0.76 yrs) who had OLT. Total eosinophil count (TEC), total IgE, and specific IgEs were studied before and 3, 6, 12 months after OLT. Six patients (21%) developed multiple food allergies. Mean age of six patients at OLT who developed food allergy was younger compared to the non-food allergy group (10.2 months vs. 68.9 months, p < 0.05). Food allergy has been developed within 1 yr in 5, and in 20 months in one patient after OLT. All six patients had cow's milk and egg allergy after OLT. Five children developed wheat, one children developed lentil and another one developed peach allergy in addition to cow's milk and egg allergy. Out of six food-allergic patients after OLT, four children developed Epstein-Barr virus (EBV) infection prior to food allergy. Before OLT, TECs and total IgE levels were not differed among food allergic and non-food allergic patients (p > 0.05). Mean of TECs were significantly higher in food allergic group compared to non-food allergic group at each time point after OLT (p < 0.05). Though statistically insignificant, mean of total IgE levels were also higher in the food allergic group (p > 0.05). These findings suggest that food allergy should be considered after OLT in patients who are younger than 1 yr of age, who developed hypereosinophilia, high total IgE levels or EBV viremia.

Published reports dealing with rotavirus infections in Turkey are very scarce. This study included 1099 consecutive paediatric patients with diarrhoea, who sought care at 3 hospitals in Ankara, Turkey between 1999 and 2002 and were investigated for the presence of rotavirus antigen in faeces. Rotavirus antigen was detected by an immunochromatographic test, Simple Rotavirus (Operon, Spain). Other clinical and laboratory data were extracted from patient journals. A total of 404 (36.8%) patients were positive for rotavirus antigen. Rotavirus antigen was more frequently detected in boys than girls (40.8 vs 31.8%) and in children younger than 2 y (62.7%). The proportion of rotavirus-positive children was higher in the winter season (49.6%; November to April) and the highest proportion was observed in December (55.4%). Rotavirus-associated diarrhoea had a more severe clinical presentation than non-rotaviral diarrhoea; 55.3% of all patients who required hospitalization were rotavirus-positive. The seasonal and epidemiological characteristics of rotavirus diarrhoea in Ankara were similar to those in the USA and Europe. For reliable nationwide information about the epidemiology of rotavirus-associated disease in Turkey, more individual studies and reliable official statistics of gastroenteritis cases are needed.