A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.

Deficiency of the IL-1 receptor antagonist (DIRA) is a recently described rare autoinflammatory disease, caused by loss of function mutations in IL1RN leading to the unopposed activation of the IL-1 pathway. We describe a novel nonsense mutation in the IL1RN gene, associated with early intrauterine onset, death and multiorgan involvement in a prematurely born baby. The protein prediction model indicated that the novel Q119X mutation would result in a nonfunctional protein by impairing the ability of the IL-1Ra to bind and antagonize signaling through the IL-1R. Since the disorder may mimic severe bacterial infections and the treatment with anakinra is life saving, we intend to raise awareness of the syndrome and the possibility of a founder mutation that may lead to the diagnosis of additional cases in Turkey. The clinical suspicion of DIRA is critical to avoid improper management of the patients with antibiotics alone and death from multiorgan failure.

The relationship of active ghrelin levels and intrauterine growth in preterm infants.

OBJECTIVE: We examined the association of active ghrelin levels with birth weight, sex, and gestational age (GA) in small for GA (SGA) and appropriate for GA (AGA) preterm infants. METHODS: Active ghrelin levels were measured by ELISA method during the first five postnatal days in 38 preterm SGA infants and 32 preterm AGA controls. RESULTS: Active ghrelin levels were significantly higher in preterm SGA infants than in preterm AGA controls (P < 0.01). Active ghrelin levels in preterms with birth weight <1500 g were statistically higher than those over 1500 g. Active ghrelin levels in preterms ≤ 34 gestational weeks were similar to those over 34 weeks. A negative correlation was detected between active ghrelin levels and birth weight (r = -0.561, P < 0.0001) as well as GA (r = -0.449, P < 0.0001). CONCLUSION: We found significantly higher active ghrelin levels in SGA preterms than those in AGA preterms and demonstrated a negative correlation between active ghrelin levels and birth weight in preterm infants. This was the first study showing a negative correlation between active ghrelin levels and birth weight in preterm infants.

Intraventricular hemorrhage in preterm newborns: risk factors and results from a University Hospital in Istanbul, 8 years after.

BACKGROUND: In this prospective study, the authors aimed to show intraventricular hemorrhage (IVH) incidence of premature newborns in the Neonatal Intensive Care Unit of Cerrahpasa Faculty of Medicine, Istanbul, Turkey, and its risk factors, and they tried to compare these results with those they reported 8 years ago. METHODS: A total of 103 premature newborns, hospitalized between August 2003 and January 2005 with a gestational age equal or less than 33 weeks, were included in this study. IVH rates and changes in the incidences of risk factors were compared with those that had been reported between January 1995 and January 1997. RESULTS: Mean birthweight of this population was 1400 +/- 380 g (min, 550 g; max, 2000 g) and gestational age 30.3 +/- 2.1 weeks (min, 25 weeks; max, 33 weeks). IVH was diagnosed in 13 (13%) of them. IVH rates were 37, 10 and 5% for birthweight groups 501-1000, 1001-1500 and 1501-200 g, respectively. Statistically significant risk factors were found to be birthweight, gestational age, clinical risk index for babies score >5, mechanical ventilation, sepsis and hypotension. Maternal corticosteroid administration was found to be significantly protective. IVH rates and incidences of risk factors in this study were decreased compared to those reported 8 years ago. CONCLUSIONS: In developing countries, where well equipped Neonatal Intensive Care Units are limited, prevention of prematurity, better prenatal care and maternal corticosteroid administration become essential points for the prevention of IVH and its neurological consequences.

Amebiasis in infancy in the middle-high socioeconomic class in Istanbul, Turkey.

Amebiasis is a major cause of morbidity and mortality worldwide. We present 11 children with acute Entamoeba histolytica infection. None of the infants developed extraintestinal disease or required hospitalization. Light microscopy results correlated with stool antigen test for E. histolytica. Breast-feeding and middle-high socioeconomic status does not protect infants from infection with E. histolytica in endemic areas.

Congenital cutis laxa syndrome: type II autosomal recessive inheritance.

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the siblings also had similar features and wrinkled skin. Our case had markedly loose and wrinkled skin especially over the dorsum of the hands and feet, and on the face and abdomen, dolichocephaly, hypertelorism, blepharochalasis, long filtrum, pectus excavatus, large fontanelles, prominent low-set ears and umbilical hernia. These findings and skin biopsy were consistent with cutis laxa syndrome. In addition to these findings, consanguinity, atypical facies, large fontanelles and umbilical hernia were typical manifestations of type II autosomal recessive cutis laxa.

A premature newborn with vesiculobullous skin lesions.

UNLABELLED: Although the rate of congenital syphilis is declining in Western Europe and in the USA, a significant increase is observed in the developing countries. In this contribution, a newborn with cutaneous manifestations of congenital syphilis is presented. CONCLUSION: Pediatricians should be attentive when confronted with vesiculobullous skin lesions in a newborn, and congenital syphilis should be considered in the differential diagnosis.

Ankyloblepharon filiforme adnatum (AFA) associated with trisomy 18.

Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly which is characterized by single or multiple strands joining the upper and lower lids. Its etiology is unknown. A girl with a gestational age of 38 weeks is presented. It was interesting to find an association of AFA with hypoplasia of hair, eyelashes, eyebrows and nails and a karyotype of trisomy 18 in this case.