CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (the CHAPLE syndrome) is caused by abnormal complement activation due to biallelic loss-of-function mutations in CD55. (Funded by the National Institute of Allergy and Infectious Diseases and others.).

We estimate that the prevalence of CD is at least 0.47% in healthy Turkish school children. Screening for IgA-tTG plus EMA provided better results for diagnosis when compared with testing for IgA-tTG alone.

Between September 2004 and December 2005 a prospective study was conducted to understand the epidemiology of rotavirus infection among children with diarrhea attending two hospitals in Ankara, Turkey. Rotavirus was detected in 39.7% of the 322 stool samples and affected mainly children in the age group of 6-23 months. More than 70% and 39% of these cases occurred in children <2 and <1 year of age, respectively. In the temperate climate of Ankara rotavirus infection was prevalent throughout the year. Serotype G1P[8] was dominant followed by G9P[8]. In 38 samples a total of 5 electropherotypes were detected. All G9P[8] were of long electropherotype except one of short electropherotype. A proportion of G1 and G9 strains were in combination with P[6], P[4] or P nontypable. Mixed serotypes were responsible for 2.4% of the infections. A phylogenetic tree constructed with the deduced amino acid sequences of the VP7 gene showed that 16 Turkish G9 strains clustered with rotaviruses of lineage III. One G9 strain formed a new lineage, lineage IV with the Sri Lankan G9 rotaviruses. In the phylogenetic tree of the VP8* gene, the Turkish G9P[6] rotaviruses clustered with human strains of lineage Ia. Increased diversity of the G/P type combination and the presence of infection throughout the year in Turkey was a situation similar to developing countries. The occurrence of rotavirus infection at later age and low level of mixed infections in Turkey represented the situation of developed countries. This study suggests that diverse G9 rotaviruses are emerging in Turkey.

Both plasma and cerebrospinal fluid (CSF) are rich in cholesterol and its metabolites. Here we describe in detail a methodology for the identification and quantification of multiple sterols including oxysterols and sterol-acids found in these fluids. The method is translatable to any laboratory with access to liquid chromatography – tandem mass spectrometry. The method exploits isotope-dilution mass spectrometry for absolute quantification of target metabolites. The method is applicable for semi-quantification of other sterols for which isotope labelled surrogates are not available and approximate quantification of partially identified sterols. Values are reported for non-esterified sterols in the absence of saponification and total sterols following saponification. In this way absolute quantification data is reported for 17 sterols in the NIST SRM 1950 plasma along with semi-quantitative data for 8 additional sterols and approximate quantification for one further sterol. In a pooled (CSF) sample used for internal quality control, absolute quantification was performed on 10 sterols, semi-quantification on 9 sterols and approximate quantification on a further three partially identified sterols. The value of the method is illustrated by confirming the sterol phenotype of a patient suffering from ACOX2 deficiency, a rare disorder of bile acid biosynthesis, and in a plasma sample from a patient suffering from cerebrotendinous xanthomatosis, where cholesterol 27-hydroxylase is deficient.

No abstract