IRANIAN JOURNAL OF NEONATOLOGY
Year:2012 | Volume:1 | Issue:3|Papers Count:8

Introduction: There is a growing concern about an increasing bilirubin-induced neurological dysfunction (BIND) in healthy term neonates with no evidence of hemolytic disease or other risk factors. This study was done to determine the incidence of BIND in otherwise healthy, breast-fed newborn term infants without hemolysis who underwent exchange transfusion.Materials and Methods: This study was conducted in jaundiced newborn infants <7 days of age, from April 2005 to April 2007. The infants were selected if they underwent double volume exchange transfusion (ET) in the first week of life. Babies with any condition affecting neurodevelopment were excluded. Data obtained by clinical findings, and predetermined laboratory tests, and questionnaires. Infants with suspected bilirubin associated brain damage were reviewed according to findings.Results: During the 2- year period, 140 term newborn infants underwent ET; 7 of these patients were excluded; 133 patients were followed and 69 patients were selected without BIND, and 64 were assigned to the group with BIND. This study showed that 48% of jaundiced newborn infants who underwent exchange transfusion, manifested bilirubin induced neurological dysfunction. Unsuccessful breast feeding was found to be a statistically significant risk factor for BIND (p:0.001), sex, route of delivery, family history of jaundice, mean maternal age, number of gravity, parity, abortion, and babies mean admission age, mean age at jaundice presentation, amount of weight loss, mean total serum bilirubin level were not found to significantly influence BIND.Conclusion: Of the healthy term neonates who developed jaundice within the first week of life, 48% without hemolysis who underwent exchange transfusion demonstrated BIND. It is still not clear whether acute bilirubin encephalopathy affects neurodevelopmental outcome or not. Unsuccessful breast feeding was found to be a statistically significant risk factor.

Introduction: Retinopathy of prematurity (ROP) is a postnatal disorder of retinal vessels that develops in the incompletely vascularized retina of preterm infants. This disorder regresses in most patients but can lead to severe visual impairment. There is evidence that leptin stimulates angiogenesis.Objective: This study was conducted to determine blood levels of leptin in premature infants with proliferative ROP.Materials and Methods: Blood samples were obtained 6-8 weeks after birth from 71 preterm infants born at or before 32 weeks of gestation. These infants consisted of two groups according their eye examination results. The control group consisted of 41 neonates without evidence of ROP and the case group included 30 patients with proliferative ROP at stage III or more. Plasma leptin concentrations were measured using enzyme-linked immunosorbent assay (ELISA).Results: The mean gestation age of studied patients at birth were 28.4±1.6 wk and 28.8±1.6 in case and control group respectively (P= .25). The mean post menstrual age of studied patients at blood sampling was 34.9±1.2 wk in the case group and 34.6±1.3 wk in the control group (p=0.33). Mean blood levels of leptin were not significantly different among patients of the two groups (0.64±0.41 ng/ml in case group and 0.79±0.83 ng/ml in control group respectively, p=0.39).Conclusion: Our data demonstrated that plasma leptin concentrations were not significantly different in premature infants with proliferative ROP at 6-8 weeks after birth from premature infants without ROP at this age.

Introduction: Early diagnosis of biliary atresia is very important for better outcome of treatment. Ultrasonography is one of the diagnostic tools for early differentiation of biliary atresia from other causes of neonatal cholestasis. It has been reported that triangular cord sign (TACS) in sonography is a reliable sign for diagnosis of biliary atresia. The aim of this study was to re-assess the accuracy of TACS alone and coupled with an abnormal gallbladder in the diagnosis of biliary atresia.Materials and Methods: Infants with prolonged cholestatic jaundice underwent ultrasonography and liver biopsy. Results of ultrasound scans (TASC and gallbladder abnormality) were compared with histopathological findings. Sensitivity, specificity, positive predictive value, negative predictive value and accuracy of Ultrasonographic findings for diagnosis of biliary atresia based on liver histopathology were studied.Results: The sensitivity, specificity and accuracy of TACS for diagnosis of biliary atresia were 36%, 95% and 77% respectively. Positive predictive value and negative predictive value was 77%. The sensitivity and specificity of gallbladder abnormality for diagnosis of biliary atresia were 36% and 88% respectively. Positive predictive value of TACS coupled with gallbladder abnormality for diagnosis of biliary atresia was 100%.Conclusion: The Ultrasonographic TACS is very specific for diagnosis of biliary atresia. Positive predictive value and accuracy of this sign is much higher than of gallbladder abnormality. The sensitivity of TACS for diagnosis of biliary atresia is very low.

Introduction: Background: Esophageal atresia (EA) is a congenital anomaly that is treated by surgical reconstruction. Some early postoperative complications may happen in this filed. we assessed complications following EA repair in a large series of neonates with EA / TEF and in hospital mortality among a large series of our cases.Materials and methods: 243 patients with EA / TEF that were treated operatively in Sarvar Children’s Hospital from 2002 to 2010 were studied. Early post-operative complications in ICU and surgery ward until hospital discharge were assessed.Results: Mean age was 3.4±2.76 days. Primary repair was performed in 83.5% Mean hospital stay was 12.5±12.81 days. Respiratory problems and food intolerance were most common early complications. In-hospital mortality rate was decreased significantly during last 8 years (from 17.6% to 4.7%)Conclusion: Acceptable results and a growing survival rate was observed in this series of patients and we hope better results with improvements in minimally invasive methods.

Introduction: The aim of study was to compare umbilical cord blood selenium levels in respiratory distress syndrome (RDS) and non RDS preterm babies.Materials and Methods: Umbilical cord blood selenium levels of all preterm newborn born during a 6-month period were enrolled in the study. They were divided into two groups: RDS and non-RDS. Selenium level was assessed by using electro-thermal atomic absorption spectrometry and serum concentration of selenium was compared between the two groups.Results: During the study 150 preterm babies were studied. Mean umbilical cord blood selenium levels were 98.5 mg/L. Among 150 preterm babies 27 (18%) had RDS and 82% no RDS. Mean umbilical cord blood selenium level in RDS and non RDS groups were 96.5 and, 96.6 mg/L respectively (P=0.64). There were no significant differences between the two groups with regard to umbilical cord blood selenium levels.Conclusion: In this study there was no significant relationship between selenium umbilical cord blood level and respiratory distress syndrome in preterm neonates.

Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss.Patients and Method: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome. Case one and two were siblings of healthy first-cousin parents and case three from a healthy second-cousin couple. These cases presented with hyperglycemia, anemia, and hearing loss. Thiamine reversed the anemia and there was a satisfactory response for the hyperglycemia as well.Results: In all three patients, direct sequencing revealed a homozygous mutation c.38 G>A (P.E.128K) resulting in the substitution of glutamic acid to lysine at position 128 in exon 2 of the SLC19A2 gene on  chromosome 1q23.3. This novel mutation was confirmed by the PCR RFLP assay of more than 100 control alleles.Conclusion: TRMA or Rogers' syndrome should be considered for patients with diabetes (DM) and other symptoms, including hearing loss and anemia. Early diagnosis can assist families in planning future pregnancies. The administration of thiamine ameliorates the megaloblastic anemic condition and produces a better response in DM.

Thanatophoric dysplasia (TD) is an osteochondrodysplasia always lethal in the neonatal period. The vast majority of cases are due to de novo mutations. It is divided into two types: a short curved femur characterizes type 1, while a straighter femur with clover leaf skull characterizes type 2. In thanatophoric dysplasia the limbs are very short. The rib cage is small. The vertebral bodies of the spine are greatly reduced in height with wide spaces between them. Autosomal dominant mutations in the fibroblast growth factor receptor 3 gene (FGFR3), which has been mapped to chromosome band 4p16.3, results in both subtypes. This condition has characteristic sonographic features that suggest the diagnosis prenatally. Thanatophoric fetuses usually die within the first 48 hours of life from pulmonary hypoplasia caused by a narrow thorax, leading to respiratory insufficiency. We reported twin dizygote cases of type 1 TD with similar findings adjusting with TD for the first time, along with a short review of the available literature.

A male neonate from a 23 year-old mother by cesarean section without complication in labor or delivery had vomiting from birth for 9 days and lost 400 grams of body weight. He had severe dehydration upon admission to our hospital. After treating his dehydration and assessment of his problem by laboratory tests and radiography we found that he had esophageal atresia without hypoglycemia. We repaired his atresia and he is normal now 10 months post-treatment.