The aim of this study was to determine the relationship between clinical findings and the most common mutated alleles of MEFV gene in a childhood population and to determine the sensitivity of the 12-mutation-strip assay test in familial Mediterranean fever (FMF). Records of 452 FMF children living in western Anatolia, Turkey, (12.3 ± 4.7 years mean) were retrospectively reviewed. Of the 408 patients who met the Tel-Hashomer criteria, 364 were classified into two main groups (two-mutant/one-mutant allele) either of which had three subgroups. The two-mutant allele frequency was 51% and one-mutant allele 38%; 1% had complex-mutant alleles and 10% no mutant-alleles. The mean severity score was 8.3 ± 2.5. Most common clinical features were fever (81.9%), abdominal pain (86.3%) and myalgia (58.8%), and the least common ones: diarrhea (1.7%), protracted febrile myalgia (1.2%) and acute orchitis (1.5%). We detected 33 different genotypes of the MEFV gene: the most common mutant allele was M694V followed by symptomatic allele mutation of E148Q. Although not significantly associated with clinical findings, P369S mutation was not rare (7.5%). Phenotype-genotype correlation revealed that patients with two-allele mutations had more severe clinical presentation and high constipation rate (22.5%); 32.6% of patients with M694V/M694V had splenomegaly. Acute orchitis and protracted febrile myalgia as rare clinical findings were more common in M694V homozygotes. Comparisons of clinical findings among patients with one-mutation allele were made for the first time, but no significant association was found. Positive predictive value of strip assay screening for 12 mutations was recorded as 89%. We suggest that whole sequence analysis for supportive diagnosis of FMF should be performed for selected patients only.

The prediction of NLR, an easy, inexpensive, and rapid method, along with CRP in the neonatal period for diagnosis of sepsis, will be more effective in detecting culture-proven sepsis and in decreasing unnecessary antibiotherapy.

Despite supplementation with 400 IU of vitamin D daily, the rate of vitamin D deficiency was worryingly high in 4-month-old exclusively breastfed infants living in Izmir, Turkey. So, additional studies are needed to clarify optimal amount of vitamin D supplementation to the infants, especially during winter days.

The VG option, when combined with A/C (in the acute phase of RDS) and SIMV (in the weaning), reduced VT variability, and may have shortened the duration of ventilation in VLBW infants. Overall mortality and BPD rates did not change, but their combined outcome was significantly improved in infants treated with VG modes as compared to those treated with synchronized pressure-limited modes alone.

NIPPV (although non-synchronized and delivered by single nasal prong) had a better effect than NCPAP after extubation of preterm infants on mechanical ventilation in respect to reducing the prevalence of post-extubation atelectasis, re-intubation and also death.