Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with tyrosinemia type I. In addition, clinical and biochemical findings were evaluated to establish a genotype-phenotype relationship in the patients. Mutation screening was performed using a 50K custom-designed resequencing microarray chip (TR_06_01r520489, Affymetrix) and sequencing analysis. Of the 12 different mutations found, 6 are categorized as novel. Three of the mutations-IVS6-1G>A, D233V, and IVS3-3C>G-are the most common in Turkish patients, comprising 25%, 17.1%, and 12.5% of mutant alleles, respectively.Clinical evaluations suggest that the spectrum of symptoms observed in the patients with very early and early disease were of the more nonspecific form, whereas the patients with late-presenting disease had more of the distinctive form over the course of the disease. This study adds support to the notion that the D233V mutation is specific to the Turkish population.

Resistin levels in preterms: are they influenced by fetal inflammatory course?

OBJECTIVE: Many different factors are involved in the pathogenesis of preterm deliveries and among them maternal or perinatal infections and inflammatory response have the major role. Researches were carried out about resistin, which is thought to have a role in inflammatory cytokine cycle and it was shown to be associated with growth in neonates. However, no research has been carried out showing its relationship with inflammation in neonates. In this study, we aimed to evaluate the resistin levels in premature neonates and the effect of events such as preterm prelabour rupture of the membranes (PPROMs) and the use of antenatal steroids on these levels. STUDY DESIGN: The study included 118 preterm neonates. Their medical data together with their mothers' were recorded. Serum resistin levels together with interleukin (IL)-6, C-reactive protein (CRP) and procalcitonin were evaluated in the first 2 h of life. RESULT: Mean gestational age and birth weight of babies included in the study were 29.6 ± 2.7 weeks and 1306.4 ± 393.4 g, respectively. Babies with PPROMs had significantly higher levels of resistin ((n=30); 70.7 (7.8 to 568.4) ng ml(-1)) than babies without PPROM ((n=88); 25.9 (5.5 to 528.9) ng ml(-1)) (P=0.005), and the babies of mothers who received antenatal steroids had significantly lower resistin levels ((n=44); 20.8 (5.5 to 159.9) ng ml(-1)) than the babies of mothers who did not ((n=66); 34.6 (7.2 to 568.4) ng ml(-1)) (P=0.015). There were significant correlations between resistin and IL-6 levels and between IL-6 and procalcitonin and CRP levels in babies whose mothers did not receive antenatal steroids. However, no correlation was found between these parameters in babies whose mothers received antenatal steroids. CONCLUSION: Preterm delivery and PPROM involve complex cascade of events including inflammation, and steroids are potent anti-inflammatory agents. Elevated resistin levels in babies with PPROM and suppressed levels in babies whose mothers received antenatal steroids reported in this study might have been observed as a result of the effects of fetal inflammation on resistin levels.

VACTERL-H associated with central hypothyroidism: a case report.

The VACTERL-H syndrome is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus. This condition is recognized as a hereditary entity with poor prognosis. We present a newborn weighing 3400 g, born by cesarean section to a 27 years old mother who had had an irregular antenatal follow-up. The patient had severe hydrocephalus, proximal esophageal atresia and distal tracheoesophageal fistula, gastric outlet obstruction, imperforated anus and recto-urethral fistula, patent ductus arterious, a bifid scrotum, a vertebral defect, sacral dimple and central hypothyroidism. The patient had no limb defects. The association of central hypothyroidism and VACTERL-H has previously not been reported.

Spontaneous rupture of extrahepatic choledochal cyst: two pediatric cases and literature review.

Spontaneous rupture of extrahepatic choledochal cysts is very rare. Neonatal cases generally present with biliary ascites, and older children with acute abdomen. Although the cause is unclear, accumulation of protein plugs in an anomalous pancreaticobiliary junction, irritation of the cyst wall due to reflux of pancreatic juice, and weakness due to a developmental error such as common channel syndrome have all been suggested to play contributing roles. The treatment of choice is complete excision of the cyst and hepatico-jejunostomy. In newborns who are in a poor condition, the primary treatment should be simple peritoneal drainage.

Endothelin 1 concentrations in infants with meconium stained amniotic fluid.

Plasma endothelin 1 concentrations were determined in infants with meconium stained amniotic fluid. Plasma endothelin 1 concentration in the study group (5.23 pg/ml) was statistically higher than that in the control group (1.12 pg/ml). Cord blood pH and base excess values were significantly lower in infants with meconium stained amniotic fluid when compared with the control group. There was no correlation between endothelin 1 concentrations and pH or base excess values. Results suggest that meconium passage is not a physiological event, even if meconium stained infants appear to be clinically healthy.

Neonatal morbidity and mortality associated with maternal HELLP syndrome.

The syndrome of hemolysis, elevated liver enzymes and low platelet count (HELLP syndrome) is a severe form of preeclampsia and eclampsia. To compare the impact of HELLP syndrome and hypertension in pregnancy (HIP) on neonatal morbidity and mortality, 11 infants born to mothers with HELLP syndrome were recruited between 1993 and 1997 from neonatal records. They were compared to 11 infants born to mothers with HIP and 11 control infants born to healthy mothers matched for gestational age, postnatal age and gender. Cesarean section rate was higher in the HELLP group than in the controls (p < 0.05). HELLP group infants had lower Apgar scores (54.5% < 1 at 5th min), than controls (9.1%) (p < 0.05). Both HELLP and HIP group infants showed a higher incidence of intrauterine growth retardation (63.6% and 54.5%, respectively) than the controls (9.1%) (p < 0.05). The incidence of respiratory distress syndrome (RDS) was similar in HELLP and HIP groups and was greater than that in controls (p = NS). Additionally, the neonatal death rate was the highest in the HELLP group (p = NS).

Carnitinuria in rickets due to vitamin D deficiency.

In this study, we measured the serum-urine total carnitine levels and PTH levels before and after treatment in 18 patients with nutritional rickets. The urine and blood samples were taken on the first (pretreatment) and the 15th day of the study (post-treatment). The total carnitine levels of serum and urine samples, serum PTH and serum-urine creatinine concentrations were determined. We found that the levels of carnitine excreted in the urine on the first (pre-treatment) and on the 15th day (post-treatment) were higher than the reference levels. Decrease in carnitine excretion on the 15th day seemed to be correlated with decrease in aminoaciduria at that time. The study showed a significant correlation between urinary carnitine excretion and serum PTH levels. In our study we did not find any significant difference between the serum total carnitine levels on the first (pre-treatment) and the 15th day (post-treatment), and both values were lower than the reference values for the same age group. We observed that the total serum carnitine levels did not change on the 15th day of the post-treatment period in spite of a decrease in urinary carnitine excretion. The results of the present study indicated that carnitine metabolism is disturbed in nutritional rickets. Further evaluation of rickets cases and new studies will probably lead to a better understanding of carnitine metabolism in nutritional rickets.

Pseudomonas sepsis with neutrophagocytosis in a premature newborn.

Secondary hemophagocytic syndrome may develop during certain severe infections commonly due to viral infections, but is rarely associated with bacterial infections, and its appearance in a premature newborn is uncommon. We present a case of hemophagocytosis during Pseudomonas aeruginosa septicemia in a premature infant. After sepsis treatment with imipenem-cilastatin and aminoglycoside, remission of hemophagocytosis was achieved.

Plasma thrombomodulin levels in early respiratory distress syndrome.

Infants with respiratory distress syndrome (RDS) undergo hemodynamic alterations in both the pulmonary and systemic vascular beds that predispose these infants to microvascular damage. In addition, disseminated intravascular coagulation (DIC) is frequently encountered in preterm infants with advanced RDS. In preterm infants with RDS, the plasma status is not known. Therefore, we studied plasma thrombomodulin levels in 25 preterm infants who did or did not develop RDS within the first few hours of life. The mean plasma thrombomodulin levels were found to be similar in the two groups (8.12 +/- 10.20 ng/ml vs. 18.30 +/- 22.77 ng/ml, respectively, p > 0.05 by Mann-Whitney U Test). It seems that plasma thrombomodulin levels are normal in the earlier stages of RDS before the occurrence of severe vascular damage and DIC due to hypoxemia.