Biomedical subjects

V Nedkova

Publications and source records attributed to V Nedkova.

7 recordsLinked to original sources

PubMed2000

Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.

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 identified a number of historical recombinations resulting from the spread of the hereditary motor and sensory neuropathy type Lom gene through Europe with the migration and isolation of Gypsy groups. Recombination mapping and the minimal region of homozygosity reduced the original 3 cM hereditary motor and sensory neuropathy type Lom region to a critical interval of about 200 kb.

Adolescent↗

PubMed1999

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

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 frequency is very low worldwide but is higher among the Roma in Europe. Since the cloning of the galactokinase gene (GK1) in 1995, only two disease-causing mutations, both confined to single families, have been identified. Here we present the results of a study of six affected Romani families from Bulgaria, where index patients with galactokinase deficiency have been detected by the mass screening. Genetic linkage mapping placed the disease locus on 17q, and haplotype analysis revealed a small conserved region of homozygosity. Using radiation hybrid mapping, we have shown that GK1 is located in this region. The founder Romani mutation identified in this study is a single nucleotide substitution in GK1 resulting in the replacement of the conserved proline residue at amino acid position 28 with threonine (P28T). The P28T carrier rate in this endogamous population is approximately 5%, suggesting that the mutation may be an important cause of early childhood blindness in countries with a sizeable Roma minority.

Adolescent↗

PubMed1997

Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study.

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 accounted for 100% of Gypsy CF alleles, which thus differed significantly from both Bulgarians and ethnic Turks. In Bulgarian and Turkish CF patients, 92% of the mutant alleles were identified, yielding a total of 25 different mutations, of which only 7 occurred at frequencies higher than 1%. The findings were compared to other European populations and to the distribution of phenylketonuria mutations. Genetic distances and population trees demonstrated that in the south-eastern tip of Europe, the overall distribution of CF mutations and polymorphic haplotypes is very close to that of Mediterranean populations, with a high frequency of N1303K and G542X, a large number of rare mutations and a prevalence of the 23 31 13 haplotype in association with deltaF508. These findings are consistent with a main role for the Neolithic expansion in the shaping of the CF mutation spectrum in Bulgaria and southern Europe.

Bulgaria↗

PubMed1996

[The clinical picture of the fetal alcohol syndrome].

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 unfolded clinical picture with added hypertrophia on the clitoris and anomalies of the kidneys on one of the children. With the description of the cases we direct obstetrician's and neonatologist's attention to this current in this moment medical problem.

Female↗

PubMed1996

[The testicular feminization syndrome combined with disseminated hemangiomatosis].

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 hemangiomas decreased their sizes.

Androgen-Insensitivity Syndrome↗

PubMed1995

[The possibilities for stimulating lactation].

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 treatment by Cerukal is suitable in an early milk insufficiency of hypoprolactinemic origin. Laser acupuncture is applied successfully in milk insufficiency owning to stagnant and inflammatory changes in the lacteal gland.

Acupuncture Points↗

PubMed1995

[Serum levels of prolactin, progesterone and estradiol in nursing mothers].

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 progesteron and estradiol. The effect of primary breast feeding on the level of prolactin concerning ninety suckling mothers has been studied. The installment of a breast six hours after child-bearing stimulates the prolactin synthesis whereas the late breast feeding after seventy-two hours decreases the concentration of prolactin and suppresses lactation.

Breast Feeding↗