Objective.Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients.Methods.This is a descriptive study of 24 patients with DADA2 who were admitted to the Adult and Pediatric Rheumatology, Pediatric Haematology, and Pediatric Immunology Departments of Hacettepe University. All ADA2 exons were screened by Sanger sequencing. Serum ADA2 enzyme activity was measured by modified spectrophotometric method.Results.Twenty-four patients with DADA2 were included: 14 with polyarteritis nodosa (PAN)-like phenotype (Group 1); 9 with Diamond-Blackfan anemia (DBA)-like features, and 1 with immunodeficiency (Group 2). Fourteen PAN-like DADA2 patients did not have the typical thrombocytosis seen in classic PAN. Inflammatory attacks were evident only in Group 1 patients. Serum ADA2 activity was low in all patients with DADA2 except one, who was tested after hematopoietic stem cell transplantation. There was no significant difference in ADA2 activities between PAN-like and DBA-like patients. In DADA2 patients with one ADA2 mutation, serum ADA2 activities were as low as those of patients with homozygote DADA2. ADA2 activities were normal in non-DADA2 patients. ADA2 mutations were affecting the dimerization domain in Group 1 patients and the catalytic domain in Group 2 patients.Conclusion.We suggest assessing ADA2 activity along with genetic analysis because there are patients with one ADA2 mutation and absent enzyme activity. Our data suggest a possible genotype–phenotype correlation in which dimerization domain mutations are associated with PAN-like phenotype, and catalytic domain mutations are associated with hematological manifestations.

We aimed to analyse infant (birth characteristics, feeding type, faecal enzyme activities) and environmental (maternal smoking, nutrition and psychological status, mother-child bonding, family structure, support for the mother, familial atopy) risk factors for infant colic and to follow infants with respect to physical growth, sleeping status up to 8 months of age in a nested case-control study. 660 mothers who delivered at Dr Zekai Tahir Burak Maternity Hospital, were enrolled within 3-72 h post delivery. Each infant with inconsolable persistent crying and four matched infants with no crying episodes were invited by phone to Hacettepe University Ihsan Doğramacı Children's Hospital at 30-45 days post partum. At 40-55 days, we examined the infants and gave mothers a questionnaire, including crying characteristics of the infants; 47 infants were diagnosed with colic and 142 as non-colic. When the infants were 7-8 months old, another interview was done. The colic group had higher proportions of less-educated (≤ 8 years) and smoking mothers, extended family and families with domestic violence than the non-colic group. The colic group of mothers had significantly higher rates of 'impaired bonding' in the Postpartum Bonding Questionnaire, higher scores on the Edinburgh Postnatal Depression Scale, higher scores for hostility subscales of the Brief Symptom Inventory and a more irregular sleep pattern than the non-colic group. No differences were revealed for faecal enzyme activities. At 7-8 months, the colic group was shorter than the non-colic group. Colic was associated with various perinatal factors (maternal education, smoking habits, cheese consumption, hostility scores and domestic violence) and having colic in infancy negatively affected the sleeping pattern and the height of the infant.

No abstract

No abstract

Association of the three potential endothelial nitric oxide synthase gene (eNOS) polymorphisms (T-786C in promoter region, G894T in exon 7 and tandem 27-bp repeats in intron 4) with an increased risk of lacunar infarction (LI) were investigated. Genotypes of 70 patients and 81 healthy controls were determined through PCR with or without RFLP. Flow-mediated dilatation (FMD) was performed to assess endothelial-dependent vasodilatation, whereas the endothelial-independent vasodilatation was assessed with nitroglycerin (NTG). Genotype distribution was significantly different between LI patients and controls for intron 4aa (alleles for four repeats), genotype frequency being 1.4% and 16.0%, respectively (odds ratio for additive effect, 0.47; 95% CI, 0.28-0.81; p=0.006). Haplotypes with the intron 4aa polymorphism were significantly higher in controls when compared with the LI group (p=0.001). Diminished FMD but normal NTG response confirmed that patients with LI have generalized endothelial dysfunction. Intron 4aa genotype of eNOS gene seems to be protective for isolated LI and the effect was potentiated by the absence of 786C polymorphism in any allele of the promoter region.