Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

Background: Familial Hypercholesterolemia is a common autosomal dominantly inherited disease that is most frequently caused by mutations in the gene encoding the receptor for low density lipoproteins (LDLR). Deletions and other major structural rearrangements of the LDLR gene account for approximately 5% of the mutations in many populations.

Methods: Five genomic deletions in the LDLR gene were characterized by amplification of mutated alleles and sequencing to identify genomic breakpoints.

Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

Background: Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearrangements account for about 5% of patients with LDL receptor gene mutations.

Methods: In this study we tested the ability of two different quantitative PCR methods, i.

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Background: Familial hypercholesterolemia is a human monogenic disease caused by population-specific mutations in the low density lipoprotein (LDL) receptor gene. Despite thirteen different mutations of the LDL receptor gene were reported from Russia prior to 2003, the whole spectrum of disease-causing gene alterations in this country is poorly known and requires further investigation provided by the current study.

Methods: Forty-five patients with clinical diagnosis of FH were tested for the apolipoprotein B (apoB) mutation R3500Q by restriction fragment length analysis.

Identification of Candida albicans types related to healthy and pathological oral mucosa.

This study comprised 100 healthy dentate adults and 53 patients with either chronic erythematous oral candidosis or oral leukoplakic lesions. The presence of yeasts was determined by microscopical examination of PAS-stained smears and by culture. Biopsy material was obtained from all lesions.

Increased cell adherence of group B streptococci from preterm infants with neonatal sepsis.

Most women with group B streptococcus cervical colonization have uncomplicated pregnancies, but about 1% experience preterm premature rupture of membranes (PROM) followed by neonatal group B streptococcal sepsis. In such cases, streptococcal adherence to and penetration of the membranes may be an important step in the pathogenesis. In the present study, chorionic epithelial cells were incubated with group B streptococci isolated from either children developing sepsis after preterm PROM (complicated pregnancies) or from uncomplicated pregnancies.

Oral mycology.

Yeasts occur commonly in the oral cavity in healthy individuals. The prevalent species is Candida albicans (about 60-70% of all isolates). C.

Clinical-mycologic diagnosis of oral yeast infections.

Conventional oral specimens for recovery of yeasts are swabs and smears. Oral rinses and imprint/impression cultures can also be used. Yeasts grow well at room temperature and may multiply in specimens under transport.

Esophageal candidosis in progressive systemic sclerosis: occurrence, significance, and treatment with fluconazole.

Esophageal mucosal brushings from 51 consecutive patients with progressive systemic sclerosis (PSS) (group I), 18 PSS patients continuously treated with high-dose ranitidine or omeprazole (group II), 34 controls referred to the outpatient clinic for endoscopy (group III), and 10 patients receiving long-term potent antireflux therapy for idiopathic gastroesophageal reflux (group IV) were cultured for Candida albicans. There were 44%, 89%, 9%, and 0% Candida albicans culture-positive patients in groups I through IV, respectively. Fifteen patients with candida esophagitis from group II were treated with fluconazole systemically.

Cutaneous alternariosis. Case report.

A case of cutaneous alternariosis is reported in the wife of a 73-year-old farmer. The diagnosis was verified culturally and histologically. The skin lesions were localized to legs, arms and face and were characterized by alternating spontaneous healing and formation of new lesions possibly due to autoinoculation from the lesions or re-exposure to the environment.

White piedra and Trichosporon beigelii carriage in homosexual men.

Trichosporon beigelii was isolated from the anal region in 45 (13%) of 343 Danish homosexual men. T. beigelii was also present on the scrotal skin of six anal carriers who were accessible for re-examination, and white piedra of the genital hair was observed in two cases.

Binding of C-reactive protein to Aspergillus fumigatus fractions.

Calcium-dependent binding of C-reactive protein (CRP) to Aspergillus fumigatus was determined by enzyme-linked immunosorbent assay. A homogenate of young hyphae was fractionated by hydrophobic interaction chromatography followed by gel filtration. High CRP-binding activity was found in a fraction of mol.

Occurrence of Aspergillus umbrosus antibodies in Danish farmers.

Antibodies to Aspergillus umbrosus were investigated in 181 Danish farmers, 137 farmers' spouses and a control group of 104 male blood donors with no relation to farming. By enzyme-linked immunosorbent assay (ELISA) higher levels of IgG antibodies were found in farmers than in their spouses and in non-farming controls (P less than 0.0001).

Ecology of yeast and epidemiology of yeast infections.

In the normal human flora yeasts occur regularly and most of them are potential pathogens. Apart from C. albicans, C.

Serum antibodies to Aspergillus fumigatus in Danish farmers.

182 Danish farmers and 105 city-dwelling control subjects were investigated for serum IgG antibodies to three purified Aspergillus fumigatus antigen fractions and unfractionated culture filtrate by enzyme-linked immunosorbent assay (ELISA). Farmers had higher levels of antibodies to all four ELISA antigens than non-farming controls. In farmers and controls high antibody activity was recorded with an antigen fraction of approximate molecular weight 470 000 daltons.

Chlamydia, mycoplasmas, ureaplasmas, and yeasts in the lower genital tract of females. Comparison between a group attending a venereal disease clinic and a control group.

162 women were investigated. Group I consisted of 85 women, who were partners to men with non-gonococcal urethritis (NGU) or presented macroscopic signs of cervicitis; patients who had harbored Neisseria gonorrhoeae were excluded from the study. Group II was a control group of 77 women without any complaints from the urogenital tract and with normal findings at pelvic examination.

The influence of long-term treatment with mecillinam on fecal Escherichia coli.

The influence of long-term treatment with a low dose of pivmecillinam on the fecal flora was investigated. Before treatment Escherichia coli was detected in about 88% of 30 outpatients with chronic recurrent urinary tract infections, but after 1-2 months only about 55% had detectable E. coli in the intestinal flora.

IgA and IgG serum antibodies to Candida albicans in women of child-bearing age.

IgA and IgG antibodies against Candida albicans culture filtrate were determined by enzyme-linked immunosorbent assay (ELISA) in sera from 84 pregnant and 21 non-pregnant women. IgA Candida antibody levels were found not to change significantly with age, whereas IgG Candida antibody levels were significantly higher in women aged 27 to 35 years than in women less than 24 years of age. Neither IgA nor IgG Candida antibody levels were related to the number of pregnancies.

Plasmid-mediated beta-lactam resistance of Escherichia coli isolated from travellers' diarrhoea in the Far East.

The transfer of drug resistance and beta-lactamase activity of 28 E. coli from travellers' diarrhoea were examined. Plasmid-mediated beta-lactam resistance was found in 18 and at least 3 different types of beta-lactamases were demonstrated.

Mecillinam, a new prophylactic for travellers' diarrhoea. A prospective double-blind study in tourists travelling to Egypt and the Far East.

The efficacy of mecillinam when given orally in preventing travellers' diarrhoea has been studied. Preliminary investigations in volunteers showed that single daily doses of up to 200 mg for 3 weeks were well tolerated. A randomised double-blind study was carried out in a group of tourists visiting Egypt and the Far East.