Lipid and lipoprotein measurements in a normal, adult Cuban population

An attempt was made to determine the normal reference values of lipid- and lipoprotein levels (cholesterol), triglycerides, cholesterol in high- and low-density lipoproteins) in a selected, apparently healthy, Cuban population. Results were expressed as mean, and various percentiles of measured values; two ratios: Risk 1 (LDL-C/HDL-C) and Risk 2 (TC/HDL-C) were also calculated. Approximately 40% of the subjects aged 20 to 30 years had cholesterol values above 200 mg/dl. Females had significantly higher cholesterol HDL-C values than males, whereas the concentrations of LDL-C and LDL were higher in males. Risk 2 ratios were elevated in males. A correlation was shown between lipid levels and age. There was a strong negative correlation between HDL-C and relative body weight. It is suggested that obesity might be an individual risk factor in the population studied.     

Lipid and lipoprotein profiles in Cuban children of three age groups

We determined the lipid and lipoprotein levels in a selected group of apparently healthy adult Cuban subjects in a previous paper /27/. In this paper the basic lipid variables (TC, TG, HDL-C) in 271 healthy children are published. LDL-C levels were also calculated. A small, but continuous, rise was found in the TC level between 0 and 14 years in both sexes. The rise of TG was accompanied by HDL increase in girls but by LDL increase in boys. This phenomenon might explain the augmented susceptibility of men to ischaemic heart disease. Children at "high risk" should be identified (in case of positive family history of ischaemic heart disease) by cholesterol determinations, the borderline of the pathologic cholesterol levels seems to be very similar to that found in the USA, 170-190 mg/dl in the age group between 0 and 14 years.     

GJB2: the spectrum of deafness-causing allele variants and their phenotype

Genetic testing was completed on 1,294 persons with deafness referred to the Molecular Otolaryngology Research Laboratories to establish a diagnosis of DFNB1. Exon 2 of GJB2 was screened for coding sequence allele variants by denaturing high-performance liquid chromatography (DHPLC) complemented by bidirectional sequencing. If two deafness-causing mutations of GJB2 (encoding Connexin 26) were identified, further screening was not performed. If only a single deafness-causing mutation was identified, we screened for the g.1777179_2085947del (hereafter called del(GJB6-D13S1830); GenBank NT_024524.13) and mutations in the noncoding region of GJB2. Phenotype-genotype correlations were evaluated by categorizing mutations as either protein truncating or nontruncating. A total of 205 persons carried two GJB2 exon 2 mutations and were diagnosed as having DFNB1; 100 persons carried only a single deafness-causing allele variant of exon 2. A total of 37 of these persons were c.35delG carriers, and 51 carried other allele variants of GJB2. Persons diagnosed with DFNB1 segregating two truncating/nonsense mutations had a more severe phenotype than persons carrying two missense mutations, with mean hearing impairments being 88 and 37%, respectively (P < 0.05). The number of deaf c.35delG carriers was greater than expected when compared to the c.35delG carrier frequency in normal-hearing controls (P < 0.05), suggesting the existence of at least one other mutation outside the GJB2 coding region that does not complement GJB2 deafness-causing allele variants.     

Diagnostic performance of arginase activity in colorectal cancer

Arginase activity was measured in serum and biopsy from healthy individuals and colorectal cancer patients. Arginase activity in tumor samples (87±7.7 U/g tissue) was significantly higher than in controls (40.7±3.3 U/g tissue). However, serum arginase activity did not show any significant change in both groups. Finally, the micromethod used to quantify arginase activity in this study is superior to other methods because it has increased sensitivity, requires less sample, and is less time-consuming. Arginase differences are significant, according to the t-test (P<0.05). Received: 14 September 2001 / Accepted: 6 February 2002     

Profilin-mediated food-induced allergic reactions are associated with oral epithelial remodeling

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Disseminated histoplasmosis successfully treated with liposomal amphotericin B following azathioprine therapy in a patient from a nonendemic area

Histoplasma infections in Europe are rare, and acute disseminated histoplasmosis has been observed only in immunocompromised persons. An unusual case of autochthonous disseminated histoplasmosis in a 22-year-old Spanish man who had been treated with azathioprine and prednisone for 4 weeks before admission is reported. The development of an acute form of the disease may represent an endogenous reactivation of a latent infection as a complication of immunosuppression resulting from the use of these drugs. This case illustrates the potential risk of this opportunistic fungal infection in patients receiving azathioprine therapy, an association that has been rarely described before.     

Analysis of products diffused into UHMWPE prosthetic components in vivo

Ten UHMWPE hip inserts, five ethylene oxide and five gamma-ray sterilised in air, were retrieved during surgical revision after aseptic failure. Time in situ varied from 6 to 23 years. First implant was carried out for degenerative arthritis in all cases. The retrieved inserts were cut into two parts perpendicular to the articulate surface and a series of 150 microm thick slices were obtained from the cross-section. These were studied by FTIR microscopy and the absorbed products were extracted with cyclohexane for identification by GC/MS and Py/GC/MS. All retrieved UHMWPE components, independent of the sterilisation method, showed species adsorbed on the surface, which were mainly synovial liquid protein components. In addition, species such as cholesterol, fatty esters of cholesterol and squalene, also originating from synovial liquid, were found in the bulk. The concentration of the different species varies depending on the individual patient.