Long bone fractures in neonatal intensive care units of Afyonkarahisar: Five-year's experience.

OBJECTIVE: To determine the incidence of long bone fractures and the clinical features related with these fractures diagnosed in neonatal intensive care units (ICUs) within the province of Afyonkarahisar in Turkey. MATERIALS AND METHODS: The incidence of clavicular fractures was 2.4 in 1000 live births, and the incidence of femoral fractures was 0.32 in 1000 live births at the neonatal ICUs of Afyonkarahisar. RESULTS: The incidence of birth trauma-related femoral fracture was 0.16 in 1000 live births, and the incidence of femoral fractures related with osteopenia of prematurity was 1.08 in 1000 live births. The mean gestational age at delivery was 39 weeks, the mean birth weight was 3.308 grams, and the male/female ratio was 3:2 for newborns with birth trauma-related femoral fractures. The mean gestational age at delivery was 30.4 weeks, the mean birth weight was 1256 grams, and the male/female ratio was 2:3 for newborns who had femoral fractures related with osteopenia of prematurity. Breech presentation was present in three newborns (60%), and cesarean section was the type of delivery in all newborns with birth trauma-related femoral fractures. CONCLUSION: Cesarean delivery does not reduce the risk for birth trauma-associated femoral fractures, and there is a risk for femoral fracture in cases of emergency cesarean performed for malpresentation. In order to overcome osteopenia of prematurity, calcium, phosphorus, and vitamin D should be supplemented in premature newborns with intrauterine growth retardation and receive long-term total parenteral nutrition.

Do toxic metals and trace elements have a role in the pathogenesis of conotruncal heart malformations?

OBJECTIVE: The aim of the present study was to determine the role of toxic elements and trace elements in the pathogenesis of conotruncal heart defects by measuring their concentrations in the first meconium specimens of the affected newborns. METHODS: Concentrations of lead, cadmium, iron, zinc, and copper were measured in 1st-day meconium specimens that were collected from 60 newborns with conotruncal heart defects (Group I) and 72 healthy newborns (Group II). RESULTS: The newborns with conotruncal defects and the healthy newborns had statistically similar demographic and clinical characteristics. When compared with healthy newborns, mean concentrations of lead, cadmium, iron, zinc, and copper were significantly higher in newborns with conotruncal heart defects (p=0.001 for each). In total, 51 newborns with conotruncal heart defects had normal karyotype. These newborns had significantly higher concentrations of lead, cadmium, iron, zinc, and copper when compared with healthy newborns. There were significant and positive correlations between the concentrations of lead and cadmium (r=0.618, p=0.001), lead and iron (r=0.368, p=0.001), lead and zinc (r=0.245, p=0.005), lead and copper (r=0.291, p=0.001), cadmium and iron (r=0.485, p=0.001), cadmium and zinc (r=0.386, p=0.001), and cadmium and copper (r=0.329, p=0.001). CONCLUSION: Toxic metals and trace elements may disturb DNA repair mechanisms by impairing DNA methylation profiles, and thus have a role in the pathogenesis of conotruncal heart defects.

Literature review and outcome of classic galactosemia diagnosed in the neonatal period.

BACKGROUND: The aim of this study was to evaluate the features and outcome of classic galactosemia diagnosed in the neonatal period. METHODS: A retrospective study was carried out on 22 newborns with classic galactosemia who were followed-up in a tertiary neonatal intensive care unit from January 2005 to January 2011. RESULTS: During the study period, 22 (18 boys, 4 girls) newborns were diagnosed with classic galactosemia. The median gestational age was 38 weeks (31 - 42) with a median age of 13 (3 - 23) days on admission. Major presenting symptoms were hepatomegaly (n = 22, 100%), jaundice [n = 19, 86%; including (n = 14, 63%) indirect and (n = 8, 36%) direct hyperbilirubinemia], vomiting (n = 17, 77%), and nuclear cataract (n = 15, 68%). Liver dysfunction (n = 22, 100%), Escherichia coli sepsis (n = 10), purpura fulminans (n = 1), hemophagocytosis (n = 1), and long QT syndrome (n = 1) were also noted. Cataract resolved in 11 (73%) patients with galactose-restricted diet in the first months. Four patients were operated for cataracts. Neurodevelopmental evaluation showed mild psychomotor retardation in one patient, learning disabilities in five, and developmental delay in three. None died from galactosemia or its complications. Patients who were diagnosed before 17 days did not require cataract operation. CONCLUSIONS: Early diagnosis of galactosemia and treatment with a galactose-restricted diet could partially prevent and recover complications of the disease, but not all of them. Cataracts can develop even in the first few weeks of life. Early diagnosis seems important in the prevention of severe cataracts. Therefore, newborn screening for galactosemia should improve morbidity.