Aysegul Bukulmez

Prevalence of Celiac Disease in Healthy Turkish School Children

OBJECTIVES:Epidemiological studies of celiac disease (CD) in Turkey have been performed only within some regions of the country. The aim of this study was to determine the prevalence of CD in Turkish school children.METHODS:Between 2006 and 2008, serum samples were collected from 20,190 students (age range, 6–17 years) in 139 schools in 62 cities from different regions of Turkey. CD was screened using IgA antitissue transglutaminase (IgA-tTG) and total serum IgA. Subjects with selective IgA deficiency were further tested for IgG-tTG. Serum samples positive for IgA or IgG-tTG were further tested for IgA antiendomysial antibodies (IgA-EMAs) using an indirect immunofluorescence method. Small-intestinal biopsy was offered to all subjects with tTG antibody positivity.RESULTS:Of the 20,190 subjects, 489 were antibody positive (IgA-tTG only in 270, both IgA-tTG and IgA-EMA in 215, and IgG-tTG in 4). Selective IgA deficiency was detected in 108 patients, and 4 of them were positive for IgG-tTG. An intestinal biopsy was conducted in 215 subjects (IgA-tTG positive in 110, IgA-tTG and IgA-EMA positive in 104, and IgG-tTG positive in 1). The biopsy findings of 95 children were consistent with CD. Thus, the estimated biopsy-proven prevalence was 1:212 children. The positive predictive value (PPV) for IgA-tTG plus EMA was 75.9%. PPV was 44.3% when only IgA-tTG was used.CONCLUSIONS: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.

Eponym: Papillon-Lefevre syndrome.

Papillon-Lefevre Syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset periodontitis, affecting the primary and permanent dentition. The syndrome was first described by Papillon and Lefevre in 1924. Genetic, immunologic, and microbiologic factors are suggested as responsible for the initiation and progression of the disease. A point mutation of cathepsin C gene has recently been detected in PLS. A multidisciplinary approach is important for management .The prognosis has improved with the early recognition of the syndrome, effective professional supervision, and home care.

Is familial Mediterranean fever a possible cofactor for Budd-Chiari syndrome?

Budd-Chiari syndrome (BCS) is characterized by obstruction of hepatic venous outflow at any level of the hepatic veins or the inferior vena cava (IVC). Clinical presentation ranges from asymptomatic cases to fulminant hepatic failure or end-stage liver disease (1). Primary endophlebitis or congenital malformations may be responsible for BCS (1). Although several hypercoagulable states such as antithrombin III, protein C and S deficiency, factor V Leiden (FVL), and prothrombin gene 20210A mutations have been linked to BCS, recent data show that primary BCS is a multifactorial disease and the combination of several prothrombotic factors play a role in the development of thrombosis (1). Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by episodic fever and polyserositis. Hypercoagulability has been recently reported in patients with FMF, yet thrombotic events were rarely reported in the literature. Although large vessel thrombosis in patients with FMF without amyloidosis is an unexpected event, an occurrence of superior vena cava thrombosis in a patient with FMF has also been reported (2-4). Our report is one of the few articles in the literature in which a major thrombotic event has occurred in the setting of FMF without amyloidosis.

Pyogenic liver abscess and peritonitis due to Rhizopus oryzae in a child with Papillon–Lefevre syndrome

Papillon–Lefevre syndrome (PLS) is an autosomal recessive disease that is characterized by symmetric palmoplantar keratodermatitis and severe periodontal destruction. Mutations in the cathepsin C gene (CTSC) have recently been detected in PLS. Immune dysregulation, due to a mutation in CTSC, increases the risk of pyogenic infections in PLS patients. A child with PLS is presented here with liver abscesses and peritonitis caused by Rhizopus oryzae. His liver abscess and peritonitis were cured with amphotericin B without surgical care. This is the first case in the literature liver abscess due to Rhizopus oryzae in a child with PLS.

Activated protein C resistance in cord blood from healthy and complicated newborns.

Objectives. Newborns are susceptible to thrombosis secondary to the immature hemostatic system and maternal and fetal complications. The contribution of activated protein C resistance (APCR) to thrombosis tendency has not yet been established. This study was conducted to investigate the effects of maternal and fetal complications on APCR levels. Methods. APCR levels were determined in cord blood from healthy term infants and compared with those in healthy preterm and complicated neonates as well as that in adult venous blood. Results. The mean value of APCR in cord blood from healthy term infants (166 ± 40 s) was not significantly different from that in adult venous blood (173 ± 40 s). No significant differences in the mean cord blood APCR values were observed between healthy term and preterm infants, infants with vaginal and cesarean delivery, infants from preeclamptic and non-eclamptic mothers, and infants with or without perinatal asphyxia. The activity levels of protein C, protein S, and antithrombin III were not significantly different between these groups except for lower levels in preterm babies. Conclusions. The level of APCR in cord blood is comparable to that in adults and not influenced by maternal and fetal complications. It appears that APCR does not contribute to the thrombotic tendency in newborns.