A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences

Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient’s karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband’s mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.     

Lipids in cells of atherosclerotic and uninvolved human aorta. I. Lipid composition of aortic tissue and enzyme-isolated and cultured cells

Phospholipid, triglyceride, cholesterol, and cholesteryl ester contents were measured in unaffected and atherosclerotic areas of human aorta and in a suspension of enzyme-isolated cells from these segments. Aortic tissue and the cells isolated from it, as well as intimal and medial cells, significantly differ in lipid content. As lipoidosis develops in an atherosclerotic lesion, lipids accumulate unevenly in the tissue and cells. In zones of fatty infiltration, lipids accumulate, apparently, mainly inside cells while in the fatty streak and atherosclerotic plaque they predominate in the extracellular space. In a suspension of cells derived from both an atherosclerotic lesion and the underlying media, cholesteryl esters are the main component of excessive fat. In the primary culture of cells enzyme-isolated from unaffected intima, fatty streak, and plaque, the lipid content and composition are retained until Days 12 to 14 and are similar to those of freshly isolated cells.     

Outpatient follow-up and management of pregnant women with hypertension

AIM: To study variants of the course of chronic hypertension in pregnant women and determination of factors predisposing to a persistent rise of arterial pressure (AP) in pregnancy. MATERIAL AND METHODS: A total of 50 pregnant women were examined (heart rhythm variability and psychological testing) who had AP 140/90 mm Hg and higher as shown by measurements at three outpatient check-ups. After delivery the patients were retrospectively devided into two groups. Twenty-seven group 1 women had frequent rises of AP to 140/90 and higher throughout pregnancy; twenty-three women of group 2 had high AP only at early terms of pregnancy, later they became normotensive without use of hypotensive drugs. 24-h AP monitoring was made in 29 patients. By its results, two subgroups were identified: 11 patients with essential hypertension and 18 women with neurocirculatory dystonia by hypertensive type. RESULTS: In group 1 there was an early fall of cardiac performance, higher values of SMIP test according to scales 2 (pessimism), 3 (emotional lability), 4 (impetuosity) and 7 (anxiety). CONCLUSION: The analysis of 24-h AP profiles revealed more persistent and significant rise of AP in patients with essential hypertension than in those with neurocirculatory dystonia. They also demonstrated high AP variability correlating with a risk of cardiovascular diseases.     

Collagen-synthesizing cells in initial and advanced atherosclerotic lesions of human aorta

Accumulation of extracellular matrix, fibrosis, is regarded to be one of the major manifestations of atherosclerosis. Collagen type I is the predominant matrix component in human atherosclerotic plaques. In this work we have demonstrated procollagen type I expressing cells (PCl-cells) and studied their localization in grossly normal human aorta and atherosclerotic lesions: initial lesions, fatty streaks, fibrolipid lesions (fibrolipid plaque, fibroatheroma), fibrotic lesions (fibrous plaque). PCl-cells were revealed immunocytochemically using SPI.D8 monoclonal antibody against human procollagen type I. We failed to detect PCl-cells in the areas of grossly normal aorta and media underlying atherosclerotic lesions. Positively stained cells were shown in the areas of initial lesions, fatty streaks, fibrolipid and fibrous plaques. The largest amount of PCl-cells was revealed in fatty streaks. These cells were predominantly localized in the preluminal proteoglycan-rich intimal sublayer. Intimal cells in grossly normal regions formed a common cellular network contacting each other with their processes. The cellular network is found to be partly disintegrated in atherosclerotic lesions, which leads to the appearance of isolated cells. The share of isolated PCl-cells localized outside the intimal cellular network was higher in advanced lesions than in the areas of early atherosclerotic lesions. In initial lesions most of PCl-cells were identified as smooth muscle cells using antibodies to smooth muscle -actin. In fatty streaks PCl-expressing smooth muscle cells were fewer in number. Much fewer cells double-stained with anti--actin and anti-PCI antibodies were found in fibrolipid and fibrous plaques. The proportion of these double stained cells was higher among total number of PCl-cells involved in the cellular network versus PCl-cells outside the network. The results of the study demonstrated that the most active de novo synthesis of interstitial collagen takes place in the regions of atherosclerotic lesions characterized by lipid deposition, which may lead to the further progression of atherosclerotic lesions.     

On the involvement of a mitochondrial pore in reperfusion injury

Summary We review evidence implicating mitochondrial dysfunction in the pathogenesis of ischaemia/reperfusion injury. The lesion has been identified as a non selective pore that is triggered by Ca²⁺ and particular metabolic derangements associated with this form of injury, namely falling ATP, raised P_i and oxidative stress. Once activated, the pore flickers between open and closed states and disrupts mitochondrial energy transduction, allowing ATP hydrolysis by the F_IF_o ATPase. Pore activation is prevented by cyclosporin A, which also retards the onset of necrosis in heart cells subjected to substrate-free anoxia and allows partial regeneration of ATP on reoyxgenation.     

Low-threshold mechanisms and cortical activation pathways.

In chronic experiments with alert cats, stimulation with electrical current of moderate strength at various points on the lateral surface of the cerebral hemispheres leads to activation of various brain regions. In addition to high-threshold cortical points, low-threshold points have been discovered which are located in the sensorimotor region and in the Ep field of the auditory zone. The latter possess the same low thresholds for evoking an activation response as do points in the mesencephalic RF and the thalamic CM, VPL, and GM. Connections have been discovered (in the morphological part of the study) between the auditory Ep field and the intralaminar nuclei of the thalamus and the brain-stem part of the RF; the major projections run from the dorsal part of the Ep field into the lateral zone of the tegmentum. It is proposed that the role of the cortical low-threshold foci could involve the triggering of the nonspecific activation apparatus in accord with the biological significance of the signals being analyzed.     

Monoclonal immunoglobulinopathy in chronic active hepatitis and liver cirrhosis

The clinico-laboratory and morphological studies were performed to examine and characterize 15 patients with chronic active hepatitis and liver cirrhosis mainly of viral etiology, going in association with monoclonal immunoglobulinopathy. The diagnostic difficulties determined by the syndrome of monoclonal immunoglobulinopathy are demonstrated. The results of a long follow-up (up to 17 years) of the indicated patients' group are provided. A possible role is discussed of hepatitis B virus as a source of long antigenic stimulation in the origin of monoclonal immunoglobulinopathy in chronic diffuse diseases of the liver.