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Biomedical subjects

G D Efremov

Publications and source records attributed to G D Efremov.

At least 19 recordsLinked to original sources
PubMed2006

Hb Jambol: a new hyperunstable hemoglobin causing severe hemolytic anemia.

We describe a new hyperunstable beta-chain variant due to a complex genomic rearrangement. The abnormal hemoglobin (Hb) was found as a de novo mutation in a 2-year-old Bulgarian girl with severe hemolytic anemia. The mutation was detected through RNA/DNA analysis. It represents a complex genomic rearrangement involving an insertion of 23 nts after IVS-II-535 (derived by triplication of the 12-nts adjacent sequence and subsequent deletion of 1 nt), a deletion of 310 nts extending from IVS-II-550 to the first nt of Cd 108 and an insertion of 28 nts at the deletion junctions (derived from the inverted sequence between nts +3,707 and +3,734 3' to the beta-globin gene termination codon). At the protein level this mutation leads to a deletion of 4 amino acid residues (Leu-Leu-Glu-Asn) at positions 105-108 and an insertion of 9 residues (Val-Pro-Ser-Val-Thr-Leu-Phe-Phe-Asp) at the same location, creating an abnormal elongated beta-chain of 151 amino acid residues. This highly unstable variant was named 'Hb Jambol' after the geographic location in which the patient resides.

Amino Acid Sequence↗
PubMed2005

Level of nitric oxide in hypertensive patients scheduled on general anaesthesia.

In this prospective study we have analysed the level of nitric oxide in hypertensive patients scheduled for general anaesthesia. In the study were included thirty-four patients with chronicle inflammatory disease of the middle ear who have undergone surgical treatment at the Clinic for Ear, Nose and Throat Surgery. The aim of our study was to determine the plasma level of nitric oxide (NO) and its effects on the circulatory system in hypertensive patients during the general anaesthesia maintained with inhalation of oxygen and nitrous oxide (O2/N2O) mixture. Patients were divided in two groups. During the maintenance of general anaesthesia the patients from the first group were ventilated with O2/N2O, while patients from the second group were ventilated with oxygen and air (O2/air) mixture. The other principles during the general anaesthesia were equal for both groups. For determination of the NO plasma levels we have used the enzymatic method according to Conrad et al., 1993. Our results showed that there is a statistically significant difference of NO plasma level between the two groups. The level of NO was higher in the first group (ventilated with O2/N2O) compared to the second group (ventilated with O/air). The mean arterial pressure and systemic vascular resistance were significantly decreased in the first group, as well. Our results suggest that nitrous oxide (N2O) most probably plays the role of NO donor in hypertensive patients during the maintenance of the general anaesthesia with N2O/O2 mixture.

Adult↗
PubMed2004

Reverse transcriptase/polymerase chain reaction analyses of hemodialysis ultrafiltrates and sera of hepatitis C virus positive patients.

The hepatitis C virus is a highly prevalent infection among chronic dialysis patients and represents one of the major problems of hemodialysis units. Hepatitis C virus transmission occurs either by blood transfusion or nosocomially. One of the proposed pathways of nosocomial transmission of the hepatitis C virus is cross-contamination through the dialysis procedure. In an effort to elucidate whether the hepatitis C virus may pass across the hemodialysis membrane, we have performed analyses of ultrafiltrates collected in different stages of hemodialysis treatments, using different types of hemodialysis membranes and different types of dialysis machines. Samples collected from the dialysis compartment during the rinsing of the blood compartment at the end of the hemodialysis treatment were also analyzed. The hepatitis C virus was found in 17 out of 58 ultrafiltrate samples taken at different times of the hemodialysis treatment. Moreover, the hepatitis C virus was present in 15 out of 17 samples collected from the dialysate compartment during the saline solution rinsing step of the blood compartment. The presence of the hepatitis C virus had no strict correlation with the type of dialysis membrane or with the type of dialysis machine. Although the results suggest that the passage of the hepatitis C virus during the hemodialysis treatment is multi-factorial and case- specific, the most critical point is when the blood is flushed out with physiological saline.

Cross Infection↗
PubMed2002

Hemoglobin A2' (HbA2delta') in the Mauritanian population: first results of a preliminary survey.

The Mauritanian population consists of two main groups: one Arab and Berber population and one of Black African origin. The latter includes five ethnic groups: Pular, Soninke, Black Maurs, Wolof, and Bambara. Abnormal HbA2 was found in the Mauritanian population and was characterized by cellulose acetate electrophoresis at pH 8.4 followed by DNA analysis. Among 785 subjects examined, 17 were carriers of HbA2' corresponding to 2.16 percent. The highest frequency was observed among the Pular (3.09 percent), the Black Maurs (2.72 percent), the Wolof (2.27 percent), and the Soninke (2.04 percent).

Adult↗
PubMed2002

Three novel point mutations causing haemophilia A.

Haemophilia A is an X-linked bleeding disorder caused by mutations in the factor VIII gene. In our efforts to elucidate molecular defects in the haemophilia A patients from the Republic of Macedonia, we employed nonradioactive single-strand conformation polymorphism analysis followed by direct sequencing, for identifying point mutations in the factor VIII gene. In the present study we report the detection of three novel missense mutations: Met19 --> Arg; Ala78 --> Pro and Cys2174 --> Gly, all causing haemophilia A.

Adolescent↗
PubMed2001

An Alu insert as the cause of a severe form of hemophilia A.

Alu sequences represent a specific human family of interspersed repetitive DNA, with a copy number in excess of 500,000 within the human genome. Alu repeats are rarely present in protein-coding regions of mature RNA, and only a few Alu insert mutations have been described so far. In this paper we present an Alu retroposition event in a family with a severe form of hemophilia A. The inserted Alu element belonging to the youngest Yb8 subfamily disrupts the reading frame at methionine 1224, exon 14 of the factor VIII gene, leading to a stop codon within the inserted sequence. This observation indicates that the retroposition of Alu elements is a continuing process possibly generating various human genetic defects.

Adolescent↗
PubMed2000

Differential diagnosis of Hb EE and Hb E-beta(0)-thalassemia by protein and DNA analyses.

DNA analysis was used to confirm the Hb EE genotype and to differentiate from the possible genotype of Hb E-beta(0)-thalassemia in two Malay patients. The first patient was a 13-year-old Malay girl, whose parents were available for family studies. The second patient was a 69-year-old Malay woman with no living family members. The presence of Hb E in both propositi was confirmed by: (1) its characteristic electrophoretic mobilities on alkaline/acid gels; (2) its chromatographic properties on anion/cation exchangers, and (3) its mildly insoluble properties. However, differential diagnosis of Hb EE and Hb E-beta(0)-thalassemia was challenging in these two cases. In the former, this was because of the possible interactions of the parents' phenotypes; i.e., the mother had a similar phenotype. In the latter, it was due to the lack of any living family members for family studies. In this communication, we present the protein and DNA analyses, including data on the use of the restriction enzyme Mnl I, for the definitive diagnosis of the Hb EE genotype in the propositi of these two Malay families.

Adolescent↗
PubMed1998

Molecular basis of cystic fibrosis in the Republic of Macedonia.

Eighty-three cystic fibrosis (CF) patients and their families, belonging to various ethnic groups living in the Republic of Macedonia were studied for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and for the associated extragenic marker loci XV-2c and KM19. The DNA methodology used included characterization of CFTR mutations in 19 exons (and flanking sequences) of the gene and analysis of distribution of the XV-2c/KM19 haplotypes among normal (N) and CF chromosomes by polymerase chain reaction (PCR) amplification followed by dot blot hybridization, restriction digestion, single-strand conformational polymorphism, constant denaturing gel electrophoresis, denaturing gradient gel electrophoresis, and sequencing. We identified 58.4% (97/166) of the CF chromosomes. Nine different CFTR gene mutations, including three novel ones, were found. Eight known and one new CFTR intragene polymorphisms were also characterized. The haplotype analysis of the XV-2c/TaqI and KM19/PstI polymorphic loci have shown that haplotype C is the most frequently found haplotype among the non-deltaF508 CF chromosomes from Macedonia (36.5%). The results demonstrate the broad heterogeneity of CF origin in this part of the Balkan Peninsula.

Cystic Fibrosis↗
PubMed1998

Access to a syllabus of human hemoglobin variants (1996) via the World Wide Web.

Information on mutations in human hemoglobin is important in many efforts, including understanding the pathophysiology of hemoglobin diseases, developing therapies, elucidating the dynamics of sequence alterations inhuman populations, and dissecting the details of protein structure/function relationships. Currently, information is available on a large number of mutations and variants, but is distributed among thousands of papers. In an effort to organize this voluminous data set, two Syllabi have been prepared compiling succinct information on human hemoglobin abnormalities. In both of these, each entry provides amino acid and/or DNA sequence alterations, hematological and clinical data, methodology used for characterization, ethnic distribution, and functional properties and stability of the hemoglobin, together with appropriate literature references. A Syllabus of Human Hemoglobin Variants (1996) describes 693 abnormal hemoglobins resulting from alterations in the alpha-, beta-, gamma-, and delta-globin chains, including special abnormalities such as double mutations, hybrid chains, elongated chains, deletions, and insertions. We have converted this resource to an electronic form that is accessible via the World Wide Web at the Globin Gene Server (http://globin.cse.psu.edu). Hyperlinks are provided from each entry in the tables of variants to the corresponding full description. In addition, a simple query interface allows the user to find all entries containing a designated word or phrase. We are in the process of converting A Syllabus of Thalassemia Mutations (1997) to a similar electronic format.

Computer Communication Networks↗