Atherogenic normolipidemia - a new phenomenon in the lipoprotein profile of clinically healthy subjects.

OBJECTIVE: The identification of an atherogenic and a non-atherogenic lipoprotein profile, athero phenotype B vs. non-athero phenotype A, in a group of healthy normolipidemic subjects reveals a new clinical phenomenon in lipoprotein profiles, an atherogenic normolipidemia. Individuals with atherogenic normolipidemia are at increased risk to develop premature atherothrombosis and experience a sudden cardiovascular event. METHODS: A quantitative analysis of non-atherogenic and atherogenic lipoproteins in plasma in a group of healthy normolipidemic volunteers who had no clinical signs of cardiovascular system impairment was performed. An innovative electrophoresis method on polyacrylamide gel (PAG) (Lipoprint LDL System, USA) was used for the analysis of plasma lipoproteins. With regard to lipids, total cholesterol and triglycerides in plasma were analyzed with an enzymatic method, CHOD PAP (Roche Diagnostics, FRG). Prostacyclin and thromboxane A2 were analyzed with an ELISA analysis (DRG USA). A new parameter, the score for anti-atherogenic risk (SAAR), was calculated as the ratio between non-atherogenic to atherogenic plasma lipoproteins in examined subjects. RESULTS: There was a high concentration of LDL3-7 subfraction (p<0.0001) and a slowly increasing triglyceride concentration (p<0.05) in the atherogenic subgroup. The non-atherogenic subgroup of healthy subjects was characterized by high SAAR scores, as well as a low concentration of LDL3-7 subfractions (p<0.0001). Other statistically significant differences between the atherogenic and non-atherogenic subgroup, including total cholesterol, prostanoid parameters (prostacyklin, thromboxane A2), and lipoproteins values, were not confirmed. CONCLUSIONS: The advantages of this new method include: (i) identification of an atherogenic and a nonatherogenic lipoprotein profile in an individual's plasma (ii) identification of an atherogenic normolipidemic lipoprotein profile in plasma (iii) introduction of a new risk measure, the score for anti-atherogenic risk (SAAR), for an estimation of a patient's atherogenic risk of atherothrombosis development. (iv) the presence of small dense LDL in plasma is decisive for declaration of an atherogenic lipoprotein profile. It is valid for hyperlipidemia and for normolipidemia as well.

Radiotherapy in Malignant Myoepithelioma of the Soft Palate - Case Report.

Myoepithelioma is a very rare neoplasm that accounts only for about 1% of all salivary gland tumours. As the lesion is so rare, there are no specific recommendations or guidelines for its treatment. In the literature, there have been only a few cases reported without any existing data concerning radiotherapy. We present a very good palliative effect of radiotherapy in a very old man.

A duplication dup(4)(q28q35.2) de novo in a newborn.

We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases. We demonstrate the usefulness of a combination of physical examination, classical cytogenetics, FISH and PCR techniques in order to establish correct diagnosis because of overlap of some clinical and cytogenetic features of Nijmegen breakage syndrome (NBS) and duplication 4q in our patient. Although FISH technique detected translocation t(14q;21q) in 4 metaphases, deletion 657del5 in exon 6 of the NBS1 gene associated with NBS in Slavic population was not confirmed. We compare in this report similarity of the clinical picture of our patient, NBS cases and other patients carrying a duplication of the distal part of 4q as described in the literature.