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Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the development of cataracts in the first weeks of life. It has also been suggested that carriers of the deficiency are predisposed to presenile cataracts developing at age 20-50 years. Newborn screening data suggest that the gene(More)
Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping of the region has been undertaken on DNA from patients diagnosed across Europe. The refined map consists of 25 microsatellite markers over approximately 3 cM. In this collaborative study we have(More)
Galactokinase deficiency is an inborn error of metabolism that, if untreated, results in the development of cataracts in the first weeks of life. The disorder is rare worldwide, but has a high incidence among the Roma (Gypsies). In 1999, we reported the founder Romani mutation, P28T, identified in affected families from Bulgaria. Subsequent studies have(More)
The lactopoesis with Cerucal and by laser acupuncture is stimulated, concerning fifty-four women with an early milk insufficiency. An increase of the quantity of the secreted mother's milk and an increase of the serum level of prolactin have been ascertained. Both methods for stimulating the milk secretion have been recommended. The plan of medical(More)
We present data on the population genetics of cystic fibrosis (CF) in Bulgaria, obtained by comprehensive mutation analysis and the construction of intragenic microsatellite haplotypes. The sample of 262 CF alleles analysed is representative of the patients diagnosed during the period of referral and of the three main ethnic groups in the country. deltaF508(More)
The serum concentrations of prolactin, progesteron and estradiol affecting twenty-four parturients in the puerperium period are studied. The proportion of prolactin on one hand in accordance with progesteron on the other hand are examined. The required condition for lactogenesis is serum concentration of prolactin above 100 ng/ml and the low levels of(More)
PURPOSE To investigate the impact of the multiple births on the iron metabolism indices in premature infants. MATERIAL AND METHODS 102 premature infants, born before 33rd gestational week (GW), are investigated, divided in two groups: control group 1 - singletons (n 69), and case group 2 - twins (n 33). The serum levels of ferritin (Ferr), transferrin(More)
It is described a new born child with many hemangiomas on the liver. It is made a karyogram to exclude. The possibility of chromosome disease. We fixed male karyotype 46 XY--syndrome Morris. We found out that it is a rare combination of testicular feminization with disseminated hemangiomatosis. After the medical treatment with high doses of cortisone the(More)
Six new cases of alcoholic embryopathy on newborn children are described. We found out that the mother suffers from chronicle alcoholism. The diagnosis fetal alcohol syndrome is made because there are the minimal diagnostically syndromes: prenatalis hypotrophia, microcephalia, mental retardation, face dysmorphism, cardinal anomalies. We have observed an(More)
PURPOSE To investigate the impact of the multiple births on the blood count indices in premature infants. MATERIAL AND METHODS 299 premature infants, born before 33rd gesta-tional week (GW), are investigated, divided in 2 groups according to the ges-tational age at birth (< or = 29 GW and 30-33 GW). These groups are divided addi-tionally in 2 subgroups:(More)
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