Molecular genetics and genetic testing in myotonic dystrophy type 1.

Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates. A striking anticipation and parental-gender effect upon transmission are distinguishing genetic features in DM1 pedigrees. It is an autosomal dominant hereditary disease associated with an unstable expansion of CTG repeats in the 3'-UTR of the DMPK gene, with the number of repeats ranging from 50 to several thousand.

[Osteoporosis: multidisciplinary and radiologic aspects].

Osteoporosis in one of the most common diseases among the elderly individuals. Bone hardness is reduced to the critically low level. Even the smallest trauma makes previously healthy individual severely ill patient.

[Molecular basis of glucocorticoid action].

Glucocorticoid hormones are involved in regulation of cell processes and coordinate physiological response to diverse signals. These hormones, through interaction with specific intracellular receptors, coordinate components of physiological repertoires by activating the expression of gene networks. Thus hormone-receptor complexes may function as key constituent in regulation of specific cell functions as well as in provoking differentiation in already determined cells.

[Autoimmune haemopoietic disturbances simultaneous with autoimmune thyroid diseases].

Out of 362 patients with diagnosis of autoimmune haemopathy treated in eight-year period at the Hematology centre, concomitant autoimmune thyreoideopathy was confirmed in 22 (5.52%). The most frequent was simultaneous manifestation of pernicious anemia and autoimmune thyreoiditis-Phenomenon was less frequently observed in patients with immune thrombocytopenic purpura and Graves disease.

[Dilated cardiomyopathy associated with autoimmune disease of thyroid gland].

Congestive heart failure is the main cause of cardiovascular morbidity and mortality with more than one million hospitalizations per year. Dilated cardiomyopathy is one of the main causes of congestive heart failure characterized by diminished function of the left, right or both ventricles and ejection fraction less than 40%. Numerous studies reported that the diseases of thyroid gland among the patients with dilated cardiomiopathy were very frequent: with prevalence from 18% to 49%.