ABSTRACT
INTRODUCTION: Symptoms related to hypersecretion of hormones in patients with pituitary adenomas do not always correlate with immunohistochemical staining results. OBJECTIVE: To evaluate the relationship between the pituitary adenomas hormone immunoexpressions and endocrine presentations. PATIENTS AND METHODS: The clinical status and immunoexpression of 72 patients who underwent transsphenoidal surgery for pituitary adenomas were analyzed. RESULTS: Macroadenomas were diagnosed in 51 cases (70.84%), while microadenomas were found in 21 cases (29.16%). The 72 adenoma specimens were divided into 22 monohormonal, 21 plurihormonal, 21 immunonegative and 8 unreliable specimens. The positive immunohistochemical staining results occurred as follows: prolactin and growth hormone 25% each, adrenocorticotropic hormone 13.89%, thyroid-stimulating hormone 5.56%, leuteinizing hormone and follicle-stimulating hormone 12.5%, glycoprotein hormone alpha-subunit 22.22%. Statistically significant relationships between the immunohistochemical presentation and the preoperative diagnosis were found for prolactin and hyperprolactinemia, growth hormone and acromegaly and adrenocorticotropic hormone and Cushing's syndrome. CONCLUSIONS: The lack of full concordance between the clinical presentations and immunohistochemical staining was mainly a result of the presence of nonfunctioning adenomas, plurihormonal adenomas and unreliable specimens. The morphometric method introduced in this study, utilizing the immunoexpression index, provided a very precise evaluation of pituitary adenomas pathology.
ABSTRACT
Many theories have been suggested in order to explain the aetiology of septal aperture. The influence of genes, the size and shape of ulna processes, joint laxity, bone robusticity, osteoarthritis, and osteoporosis has been discussed; however, the problem has not yet been solved. The aim of the study was to examine the correlations between musculoskeletal stress markers, humeral robusticity and septal aperture. Additionally, the frequency of septal aperture according to sex, age, and skeletal side had been analysed. The skeletal material had come from a medieval cemetery in Cedynia, Poland. Skeletons of 201 adults (102 males, 99 females) had been examined and septal aperture had been scored. Six muscle attachment sites of upper limb bones had been analysed. Humeral robusticity had been calculated by use of the humeral robusticity index. The frequency of septal aperture among the population from Cedynia is 7.5%. There are no differences in septal aperture prevalence between males and females, the skeletal sides or age groups. In the analysed material, males with less developed muscle markers of right upper bones proved a higher predictable rate in having septal aperture (R = -0.34). On the left bones and among females, the converse correlation had also been found, but it is not statistically significant. The correlation between septal aperture and humeral robusticity is converse, yet small and insignificant. These results can confirm the theory of joint laxity and suggest that stronger bones (heavier muscles, more robust bones) increase joint tightness, and therefore protect the humeral lamina from septal aperture formation. But this theory needs a further detailed analysis.
ABSTRACT
We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balanced de novo translocation 46,X,t(X;13)(p11.2;p13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere and XIST-region-specific probes, showed that the XIST locus was not involved in the translocation. Selective inactivation of paternal X, which was involved in translocation, was revealed by the HUMARA assay. The pattern of methylation of 5 genes located within Xp, which are normally silenced on an inactive X chromosome, corresponded to an active (unmethylated) X chromosome. These results revealed that in our proband the X chromosome involved in translocation (Xt) was preferentially inactivated. However, genes located on the translocated Xp did not include XIST. This resulted in functional Xp disomy, which most probably accounts for the abnormal phenotype in our patient.
Subject(s)
Chromosomes, Human, Pair 13/genetics , Chromosomes, Human, X/genetics , DNA Methylation/genetics , Gene Duplication , Sex Chromosome Aberrations , Translocation, Genetic , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Karyotyping , Phenotype , RNA, Long Noncoding , RNA, Untranslated/genetics , Uniparental Disomy/genetics , X Chromosome Inactivation/geneticsABSTRACT
Deficiencies in superoxide dismutases (Cu,ZnSOD or Mn-SOD) strongly shorten the life span of yeast cells. The effects of these deficiencies are additive. In contrast, deficiencies in catalases do not influence life span. Our results confirm that free radical processes may be involved in aging.
