Crisponi syndrome/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder with a complex phenotype, reported in the neonatal period for CS and in the evolutive one for CISS. The syndrome usually manifests at birth. The aim of this study was to report on three new patients with CS and review the Turkish patients. We report here on three patients from two related families harboring a homozygous mutation in the cytokine receptor-like factor-1 (CRLF1) gene. DNA samples of the three patients and their parents were subjected to a mutational analysis of the CRLF1 gene at the Institute of Biomedical and Genetic Research - National Research Council, Cagliari (Italy). Direct sequencing of the nine coding exons and surrounding intronic regions of CRLF1 was performed using specific primers. All three patients were found to be homozygotes for the mutation c.708_709delinsT, which leads to a frameshift in the second fibronectin type III domain (p.Pro238Argfs*6). CS should be considered in the differential diagnosis of newborns with muscle contractions, feeding and swallowing difficulties, dysmorphic facial findings, camptodactyly, and hypertermia. Neonatologists must be aware of this syndrome that, although very rare worldwide, has a higher prevalence in Turkey.

Background: Procedural pain is one of the most significant problems in neonates, especially in premature babies. Harmless and effective pain relief modalities in newborns should thus be applied. Although sucrose is the most commonly used agent, the most effective dose and concentration of sucrose is not clear. In this study, we compared the efficacy of two different doses of sucrose during venepuncture in neonates. Methods: This was a prospective, randomized, double-blind study. The study was conducted during venous sampling. Oral 24% sucrose (Tool sweet TM Natus Medical, San Carlos, CA, USA) was given by sterile syringe onto the anterior part of the tongue. Group 1 (n = 65) received 0.2 mL/kg 24% sucrose and group 2 (n = 64) received 0.5 mL/kg 24% sucrose. The Bernese Pain Scale for Neonates (BPSN) was used to assess the pain scores before, during and after the procedure. Results: One hundred and twenty-nine premature infants were enrolled in the study, consisting of 67 girls (51.9%) and 62 boys (48.1%) aged 1-24 days (mean age, 8.34 AE 6.25 days). There was no significant difference in BPSN score between the groups (P > 0.05). There was also no statistically significant difference in BPSN subscale scores between the groups (P > 0.05). Conclusions: Twenty-four percent sucrose 0.2 mL/kg may be the minimum effective dose to relieve pain during venepuncture procedures in premature babies.

Objective: Neonatal sepsis is one of the most frequent and life threatening disorder in the first one month of life. The type of the causative organisms and their resistance may change by the time even in the same hospital. In this study, we aimed to evaluate characteristics of the culture-proven cases in our neonatal intensive care unit. Methods: Between January 2012-July 2015, 1735 neonates who were hospitalized at neonatal intensive care unit of Bezmialem Vakıf University Hospital. The 56 patients diagnosed as culture proven sepsis were involved in the study. Results: The mean gestational age of patients was 31.70±4.92 weeks, and the mean birth weight was 1654.07±906.6 grams. The patients were 76.8% premature and 23.2% term newborns. Early onset neonatal sepsis was diagnosed 14.3% of patients, late onset neonatal sepsis was diagnosed 85.7% of patients. KoNS was the most frequently isolated gram positive microorganism in whole cultures. Klebsiella pneumoniae was the most frequently isolated gram negative microorganisms. Vancomycin resistance was not determined in any of the gram positive microorganisms. Meropenem resistance was not determined and imipenem had a maximum value of 50% resistance in the evaluated gram negative microorganisms. Mortality rate was 12.5% in both early onset neonatal sepsis and in late onset neonatal sepsis. All of the babies who were died were premature in both sepsis groups. Conclusion: The type of sepsis and microorganisms and their antibiotic resistance changes amongst neonatal intensive care units and also in the same unit by the time. Active surveillance is recommended to update the treatment protocols.

No abstract

No abstract