Background:Neonatal hyperbilirubinemia is a common clinical manifestation of the inherited glucose-6-phosphate dehydrogenase (G6PD) deficiency.Aim of the study:The aim of this study was to investigate the influence of the inherited G6PD deficiency on the appearance of neonatal hyperbilirubinemia in southern Croatia.Methods:The fluorescent spot test (FST) was used in a retrospective study to screen blood samples of 513 male children who had neonatal hyperbilirubinemia, of unknown cause, higher than 240 μmol/L. Fluorescence readings were performed at the beginning and at the fifth and tenth minute of incubation and were classified into three groups bright fluorescence (BF), weak fluorescence (WF) and no fluorescence (NF). Normal samples show bright fluorescence. All NF and WF samples at the fifth minute were quantitatively measured using the spectrophotometric method.Results:Bright fluorescence was present in 461 patients (89.9%) at the fifth minute. The remaining 52 (10.1%) were quantitatively estimated using the spectrophotometric method. G6PD deficiency was observed in 38 patients (7.4%).Conclusions:Prevalence rate of G6PD deficiency among male newborns with hyperbilirubinemia in southern Croatia is significantly higher (p < 0.01) compared with the previously reported prevalence rate among male in general population of southern Croatia (0.75%). We recommend FST to be performed in hyperbilirubinemic newborns in southern Croatia.
Introduction:Glucose-6-phospahte dehydrogenase deficiency (G6PD) is one of the most common inherited disorders affecting around 400 million people worldwide. Molecular analysis of the G6PD gene identified more than 140 distinct mutations, the majority being single base missense mutations. G6PD Mediterranean is the most common variant found in populations of the Mediterranean area.Aim:The aim of our study was to perform molecular characterization of G6PD deficiency in families from the Republic of Macedonia and correlate the findings to disease phenotype.Patients and methods:Six patients and seven other family members were selected for genetic characterization, the selection procedure involved clinical evaluation and G6PD quantitative testing. All patients were first screened for the Mediterranean mutation, and subsequently for the Seattle mutation. Mutations were detected using PCR amplification and appropriate restriction endonuclease cleavage.Results:Four hemizygote and 3 heterozygous carriers for G6PD Mediterranean were detected. All G6PD deficient patients from this group showed clinical picture of hemolysis, and in 66.6% neonatal jaundice was confirmed based on history data. To our knowledge, this is the first study concerned with molecular aspects of the G6PD deficiency in R. Macedonia.Conclusion:This study represents a step towards a more comprehensive genetic evaluation in our population and better understanding of the health issues involved.
Neonatal indirect hyperbilirubinemia is one of the most frequent neonatal problems that affect almost two thirds of term infants. Although etiology of jaundice has been widely studied, identification of pathological causes presents constant clinical challenge. Our study group performed an extensive retrospective study of etiology of neonatal hyperbilirubinemia and showed high frequency (44.37%) of jaundice of undefined etiology. The group included exaggerated physiological jaundice, earlyand late-onset breast-milk jaundice, and no identifiable etiology. Other etiologies were neonatal infection, prematurity, birth trauma, and hemolysis represented with 15%. We described hematological parameters in both non-hemolytic and hemolytic type of jaundice; a significant correlation of relevant laboratory findings with etiology was established. In this chapter we will present our own data and perform a data-relevant literature review. Furthermore, investigation and management plan of neonatal indirect hyperbilirubinemia will be presented in accordance with own data and available literature.
AbstractsResults Infants ventilated in HFOV have required a maximum value of MAP significantly lower (p<0.05) versus those ventilated in CMV; Iin group A, 8 (13.3%) experienced a hemorrhage of III-IV degree against 12 (20%) of subjects in group B.They presented CPVL 14 (7.23%) infants in group A compared with 16 (26.6%) in group B. There were no differences in cerebral blood flow and resistance index of the anterior cerebral artery. There were no differences in cardiac function. Conclusions Our data show an increase, not statistically significant, of PIVH and CPVL in newborn infants treated with conventional ventilation than oscillatory ventilation. This is attributable to the use of a MAP "optimal" able to obtain a good alveolar recruitment without causing hyperexpansion.
VISUAL EVOKED POTENTIALS IN TERM AND PRETERM INFANTS
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