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Introduction: Homocystine had been difficult to detect by conventional methods in the newborn period even in patients with homocystinuria because homocystine easily conjugates with plasma proteins. However, the method of Kang et al. enabled us to measure the total amount of homocysteine (free and protein-bound) in blood and urine by using 2-mercaptoethanol. We applied their method to thin layer...
Introduction: Hospital discharge of mothers and their infants within 24 h after delivery is becoming very frequent in the United States as part of the effort to constrain rising costs of health care. This poses a potential problem in newborn screening since the newborn blood specimen is most certainly and most efficiently collected prior to nursery discharge. We surveyed newborn screening programs...
Introduction: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, the most frequent disorder of fatty acid β-oxidation, can cause episodic hypoglycemia, Reye-like encephalopathy and sudden death. A single mutation in the MCAD gene, K329E, has been associated with most cases of this disease. Consequently, unlike most other genetic disorders which are associated with multiplicities of mutations,...
Introduction: Confirmatory blood phenylalanine concentrations obtained after newborn screening identification are used to establish the diagnosis of phenylketonuria (PKU) or mild hyperphenylalaninemia (MHP). This diagnosis usually determines whether dietary treatment is necessary. When the phenylalanine level is in the range of MHP and diet is not given, there is a certain degree of complacency...
Introduction: The frequencies of enzyme deficiencies that cause hemolytic anemia among Iraqi people in southern Iraq have been studied. These hereditary red blood cell enzymes include glucose 6-phosphate dehydrogenase (G6PD), pyruvate kinase (PK) and hexokinase (HK). The most common enzyme deficiency is G6PD deficiency, an X-linked recessive trait. PK deficiency is associated with chronic hemolytic...
Introduction: On the basis of routine screening as well as clinical ascertainment, the incidence of congenital adrenal hyperplasia (CAH) seems to vary widely in different areas of the world. Anecdotal evidence from physicians in Saudi Arabia suggests that the incidence in this country might be higher than in western societies. Thus, it might be wise to establish neonatal screening for CAH in Saudi...
Introduction: In maternal phenylketonuria (PKU), phenylalanine transverses the placenta, producing hyperphenylalaninemia in the fetus. This hyperphenylalaninemia is present in the offspring at birth and could produce false positive newborn PKU screening results unless rapidly cleared. Consequently, we determined the duration of postnatal hyperphenylalaninemia among offspring of maternal PKU/mild...
Introduction: Biotinidase deficiency is an autosomal recessive metabolic disorder that can produce skin rash, alopecia, seizures, ataxia and developmental delay. Early detection and treatment with biotin may prevent these symptoms. Newborn screening for this disorder has been conducted in many areas of the world. We examined our results in Austria. Methods: 531 331 newborns in Austria were screened...
Introduction: Resistance to thyroid hormone (RTH) is an autosomal disease characterized by pituitary and peripheral tissue insensitivity to thyroid hormone, exemplified by elevated serum total and free thyroxine (TT 4 , FT 4 ) concentrations coincident with inappropriate levels of thyroid stimulating hormone (TSH). The most common clinical manifestation of RTH is attention deficit...
Introduction: Urinary dopamine (DA) is well-known as a useful marker in the detection and follow-up of neuroblastomas, especially advanced cases. We have established a new method based on the simultaneous measurement of urinary DA and acidic catecholamine metabolites using high performance liquid chromatography (HPLC). The method described here has been applied in a regular neuroblastoma screening...
Introduction: Newborn screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) is usually conducted with a single specimen collected from the infant prior to hospital discharge. To meet the specific medical infrastructural requirements in the Principado de Asturias in northern Spain, we modified specimen collection by obtaining an umbilical cord blood specimen.for CH screening and a...
Introduction: Most of the children identified with neuroblastoma in mass screening for neuroblastoma are cured, but little is known about their quality of life. We investigated quality of life characteristics in these children as compared with those who had false positive results from this screening. Methods: A questionnaire was sent to every family of a child with neuroblastoma identified by mass...
Introduction: Although the fluorometric method for galactosemia screening established by Yamaguchi et al. (Clin Chem 1989; 35: 1962) is an excellent method, it requires many pipette manipulations which increase the possibility of human errors. Method: We developed a novel technique using a transfer plate combined with a supporting frame (Fujimoto et al., in: Neonatal Screening in the Nineties, Australia:...
Introduction: Biotinidase deficiency, an inborn error of biotin recycling, is included in many newborn screening programs on the assumption that presymptomatic biotin therapy will prevent all of the complications of the disorder. These complications include cognitive delay. To assess this assumption, we have studied children found to have biotinidase deficiency through newborn screening and treated...
Introduction: Reliable screening for congenital hypothyroidism is under threat in many countries of the world due to a tendency towards early sampling and discharge of newborns. Consequently, we analyzed the thyroid stimulating hormone (TSH) levels in newborn infants whose blood specimens were collected by heelstick at different hours of age during the first two days of life and again after 48 h...
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