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PubMed2006

Gene expression and methylation patterns in cloned embryos.

A considerable proportion of the offspring, in particular in ruminants and mouse, born from nuclear transfer (NT)-derived and in vitro-produced (IVP) embryos are affected by multiple abnormalities, of which a high birthweight and an extended gestation length are the predominant features; a phenomenon that has been termed "Large Offspring syndrome" (LOS). According to a current hypothesis, LOS is caused by persistent aberrations of expression patterns of developmentally important genes starting as early as at the preimplantation stages. The underlying mechanisms are widely unknown at present, but epigenetic modifications of embryonic and fetal gene expression patterns, primarily caused by alterations in DNA methylation are thought to be involved in this syndrome. Appropriate DNA methylation is essential for regular transcription during mammalian development and differentiation. Sensitive reverse transcription polymerase chain reaction assays allow the study of messenger RNA (mRNA) expression levels of specific genes in single embryos. The methylation status of a specific gene can be assessed by bisulfite sequencing. Studies to unravel mRNA expression patterns from IVP- and NT-derived embryos have revealed numerous aberrations ranging from suppression of expression to de novo overexpression or more frequently to a significant upregulation or downregulation of a specific gene. mRNA expression patterns from in vivo-derived embryos are essential as the "physiological standard" against which the findings for IVP and NT-derived embryos are to be compared. Unraveling the underlying molecular mechanisms will contribute to the production of viable embryos and aid to improve biotechnologies applied to early mammalian embryos.

Animals↗
PubMed1976

Blood groups changes in preleukemic states.

Modifications of blood groups in the course of malignant hemopathies are related to the disease itself and appear to be essentially clonal. They refer not only to the glycolipidic ABH and associated antigens, but also to other blood group systems or other genetic markers. These multiple abnormalities are observed in the preleukemic states as well as in the actual leukaemias. Similar but limited to one genetic unit abnormalities have been noticed among apparently normal subjects, especially in the aged. The various modifications observed are indeed related to the genetic function, and the clonal character is in favor of this assumption. The evidence of abnormalities affecting two genetic systems which are linked ABO and AK is a further argument supporting this hypothesis. Furthermore, the distribution of immunoglobulin marker abnormalities corresponds to that of one of the haplotypes of the Gm genotype. Finally, we were able to demonstrate that the glycosyltransferase itself is abnormal too, in the case of ABH antigen abnormalities. In all the cases investigated to date, when apparently new characters seemed to be observed, they are in fact unconverted substrates, which are to be compared to the carcinoembryonic antigens.

ABO Blood-Group System↗
PubMed1992

Hansenula anomala fungemia in an infant with gastric and cardiac complications with a review of the literature.

A 6-month-old female infant, with a birth weight of 2.74 kilograms, was born with multiple congenital abnormalities, including gastric and gastrointestinal defects. She was admitted to the hospital with hematemesis. The patient could not be fed orally, and parenteral nutrition was initiated through a central venous catheter. Following pyloroplasty, she developed superior vena cava syndrome, renal disfunction and episodes of sepsis. Stool and respiratory specimens were negative for fungi, but four blood cultures yielded Hansenula anomala var. anomala. Cultures for fungi from intravenous catheter tips were negative. The baby was treated with amphotericin B (am B) and 5-fluorocytosine (5-FC), (amB; 0.1 mg/kg body weight and 5-FC, 100 mg, q.i.d.). The minimal inhibitory concentrations of am B, 5-FC, am B + 5-FC (1:1, w:w) and fluconazole to H. anomala were 1.56, less than 0.195, 1.56, and 1.56 micrograms, respectively. Following antifungal therapy and removal of the catheter, the patient tolerated oral feeding and, at the time of discharge, her weight had increased to 4.91 kg. This report records H. anomala as an opportunistic yeast pathogen for the first time in Alberta, Canada. Previously published cases of H. anomala infections are reviewed.

Abnormalities, Multiple↗
PubMed1994

"Varicoid change" of bile canaliculi in rat liver at an early phase of ischaemia-reperfusion injury.

To elucidate early changes and the mechanism of ischaemia-reperfusion liver injury, we investigated three-dimensional microstructural changes of cellular actin filaments in rat livers using confocal laser scanning microscopy. The liver tissues of a reperfusion group were examined 12 h after removal of a vascular clamp. Fixed tissues were stained with fluorescein-labelled phalloidin to obtain stereoscopic images of the actin filaments and these were compared with histological findings. The images of bile canaliculi showed that multiple abnormal minute diverticula arose from the canalicular membranes and fused with one another, resulting in irregular dilation of the bile canaliculi. These changes were observed after 15 min of ischaemia and reperfusion in which no significant necrosis was seen. The frequency and degree of these changes were strictly dependent on the periods of ischaemia (15-60 min). We called these bile canacilular lesions "varicoid changes". The liver of an ischaemia group taken after persistent clamping without reperfusion did not show these changes. Our findings suggest that the varicoid change in the bile canaliculi is probably due to alterations in the actin polymerization-depolymerization cycle and is a pathognomonic change of ischaemia-reperfusion liver injury.

Animals↗
PubMed1991

Paracentric inversion of chromosome 15(q15q24): description of three families.

Three unrelated families with paracentric inversion of chromosome 15(q15q24) are reported. An additional pericentric inversion of chromosome 9 with breakpoints in p11.2q13 was also observed in one of the three families. Reproductive problems, such as stillbirths, spontaneous abortions and two live-born children with multiple abnormalities, were present.

Adult↗
PubMed1995

Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8.

We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a 35-year-old female, presenting with short stature, gonadal dysgenesis, and a multiple congenital anomalies/mental retardation syndrome typical of trisomy 8, chromosome analysis from peripheral lymphocytes showed the presence of three cell lines, whose karyotypes were 45,X (59.2%), 46,X,+8 (1.2%), and 47,XX,+8 (39.6%), respectively. The same cell lines were found in a skin fibroblast culture, though in different proportions. The second patient, a 9-month-old male with multiple skeletal abnormalities, showed a 47,XY,+8 and a 47,XXY cell line in both peripheral lymphocytes (61.7% and 38.3%, respectively) and skin fibroblasts (92.8% and 7.2%, respectively). To determine the events underlying the origin of these complex karyotypes we performed Southern blot and polymerase chain reaction (PCR) analysis using polymorphic DNA markers from the X chromosome and from chromosome 8. Both supernumerary chromosomes 8, and, in case 2, the two X chromosomes, appeared to be identical, lacking detectable recombination events. We conclude that, in both cases, the most likely mechanism underlying the origin of the mosaic cell lines was formation of a normal zygote, followed by mitotic errors during early divisions.

Abnormalities, Multiple↗
PubMed1988

Characterization of a mouse model of chronic uremia.

A mouse model of renal failure, which is induced by the sequential electrocoagulation of the right renal cortex and left nephrectomy, was examined for the capacity to reproduce the characteristics of chronic uremia. Assessment was conducted six weeks after the second surgical procedure in 13 week old female C57BL/6 inbred mice with renal failure and in normal and sham-operated controls. The surgery, which was well tolerated, was free of local and systemic signs of inflammation or infection. Growth was significantly delayed in all animals post surgery however renal failure mice presented the most severe growth retardation. Biochemical analysis of plasma revealed multiple abnormalities with commensurate elevations of urea and creatinine. In addition to the expected hyperphosphatemia, hyperkalemia and acidosis, a significant increase in cholesterol was present. Furthermore, in contrast to controls, renal failure mice produced large volumes of urine which contained significant levels of protein. Renal failure mice presented profound hematological changes in the red cell series in which anemia was evident. Changes in plasma biochemistry and in bone histology revealed the presence of severe secondary hyperparathyroidism. It was therefore concluded that the described mouse model of chronic renal failure presented characteristics consistent with those observed clinically in end-stage renal disease.

Animals↗
PubMed1976

A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies--a new syndrome.

This paper reports a rare malformation syndrome which is observed in two sibs (brother and sister) of a family. It consists of nearly symmetric reductive defects of the limbs, flexon contractures of various joints, cleft lip and cleft palate, multiple minor abnormalities including capillary hemangioma of the forehead, hypoplastic cartilages of ears and nose, micrognathia, intrauterine growth retardation, and possibly mental retardation. Chromosomes of both parents and propositi are normal. Genetic data suggest autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1977

Two cases of trisomy 21 and one XXY case with atypical clinical features.

Three patients with mental retardation and multiple congenital abnormalities are described. Although their clinical appearance was not suggestive of Down's syndrome, chromosome studies showed a non-disjunctional trisomy 21 in two of the patients. The third case had an unsuspected XXY karyotype.

Abnormalities, Multiple↗
PubMed1990

The inborn errors of peroxisomal beta-oxidation: a review.

In recent years a growing number of inherited diseases in man have been recognized in which there is an impairment in peroxisomal beta-oxidation. In some diseases this is due to the (virtual) absence of peroxisomes leading to a generalized loss of peroxisomal functions including peroxisomal beta-oxidation. In most inborn errors of peroxisomal beta-oxidation, however, peroxisomes are normally present and the impairment in peroxisomal beta-oxidation is due to the single or multiple loss of peroxisomal beta-oxidation enzyme activities. In all these disorders there is accumulation of very-long-chain fatty acids in plasma, which allows biochemical diagnosis of patients affected by an inborn error of peroxisomal beta-oxidation to be done via gas-chromatographic analysis of plasma very-long-chain fatty acids. Subsequent enzymic and immunological investigations are required to identify the precise enzymic defects in these patients. In all inborn errors of peroxisomal beta-oxidation known today there are multiple abnormalities, especially neurological with death usually occurring in the first decade of life. Prenatal diagnosis of these disorders has recently become possible.

Fatty Acids↗
PubMed1992

Lethal Pena-Shokeir 1 syndrome in three male siblings.

A consanguineous family with no living children and three male siblings with Pena-Shokeir 1 syndrome is described. Two children died antepartum and the third shortly after delivery. The importance of early prenatal diagnosis, appropriate counseling and thorough evaluation of the neuromuscular system is discussed.

Abnormalities, Multiple↗
PubMed1969

Monomelus.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed2000

Biological functions of ceruloplasmin and their deficiency caused by mutation in genes regulating copper and iron metabolism.

Ceruloplasmin, a multicopper ferroxidase, is involved in iron and copper homeostasis and integrates these metabolic pathways. Impaired biosynthesis of ceruloplasmin caused by gene mutations disturbs iron metabolism with iron deposition in different organs, especially in the basal ganglia, and severe neuronal damage. Dysfunction of ATP7B, a copper-transporting ATPase leads to the development of Wilson's disease, i.e., multiple abnormalities in copper metabolism associated with reduced synthesis of holoceruloplasmin and biliary copper excretion controlled by both proteins. The lowest content of serum ceruloplasmin is observed in the most grave early neurological form of Wilson's disease (according to N. V. Konovalov's classification), which confirms the important role of ceruloplasmin in the striatal metabolism of catecholamines.

Adenosine Triphosphatases↗
PubMedDate not supplied

Hypothalamic-pituitary function in Cushing's disease.

Hypothalamic pituitary function was evaluated in seven patients with Cushing's disease. In all subjects there was an absence of GH elevation following hypoglycemia. Three patients demonstrated basal hyperprolactinemia. Six had an intact PRL rise following TRH. However, four patients failed to show PRL elevation with insulin hypoglycemia and six were unresponsive to chlorpromazine. Five patients showed impaired TSH response to TRH. Many of the subjects had low basal LH and FSH levels. Attenuated or absent gonadotropin responses to LHRH were noted in three females. One male demonstrated an exaggerated FSH response to LHRH. These results indicate that multiple abnormalities of anterior pituitary hormone secretion characterize Cushing's disease.

Adult↗
PubMed2002

The effect of polyneuropathy on foot microcirculation in Type II diabetes.

AIMS/HYPOTHESIS: The aim of this study was to investigate the influence of peripheral polyneuropathy (PNP) on skin microcirculation and foot swelling rate in the feet of patients with Type II (non-insulin-dependent) diabetes mellitus. METHODS: 38 Type II diabetic patients, 24 with PNP (PNP+), 14 without PNP (PNP-), and 16 healthy control subjects were studied, first supine and subsequently sitting with the foot dependent for 50 mn. RESULTS: In patients with PNP, foot skin temperature was higher, (p<0.04) and capillary blood cell velocity (CBV, nailfold capillary microscopy), was lower compared to patients without PNP (222 vs 313 micro m/s respectively, p<0.03). Compared to the control subjects, the percentage reduction in skin blood flux, (LDF, laser-Doppler fluxmetry), after 10 min was higher in the PNP- and PNP+ patients (3% vs 18% and 26% respectively, p<0.02). These disturbances were most pronounced in PNP+ patients with a history of a foot ulcer. Foot swelling rate (mercury strain gauge plethysmography) in the first 10 min of dependency, was lower in patients with PNP+ compared to the control subjects (0.00165 vs 0.00286 ml.100 ml(-1)s respectively, p<0.01). In addition, we found a negative correlation (r=-0.41; p<0.01) between Valk-score (severity of PNP) and FSR. CONCLUSION/INTERPRETATION: Type II diabetes PNP is associated with multiple abnormalities in the (skin) microcirculation of the foot, characterised by reduced capillary blood flow, an enhanced reduction in skin blood flux and impaired fluid filtration after sitting up. The most severe abnormalities were observed in patients with a history of foot ulceration.

Adult↗
PubMed2000

Significant improvement of apolipoprotein B-containing lipoprotein metabolism by insulin treatment in patients with non-insulin-dependent diabetes mellitus.

AIMS/HYPOTHESIS: Patients with Type II (non-insulin-dependent) diabetes mellitus have multiple abnormalities in apolipoprotein B (apoB)-containing lipoprotein metabolism. These abnormalities are likely to play an important part in the development of premature atherogenesis in these patients. This stable isotope kinetic experiment was designed to study the effect of insulin therapy on apoB metabolism in poorly controlled Type II diabetic patients. METHODS: Using L-[1-13C] leucine, we studied apoB metabolism in five control subjects without insulin resistance and in six poorly controlled Type II diabetic patients before and 2 months after the introduction of insulin therapy. RESULTS: Insulin treatment induced a decrease of very low density lipoprotein apoB plasma concentration [121 +/- 42 vs 158 +/- 91 mg.l-1, p < 0.05 (control subjects: 48 +/- 20)], related to an increased catabolism of very low density lipoprotein towards intermediate density lipoprotein or low density lipoprotein [0.20 +/- 0.08 vs 0.14 +/- 0.07 pool.h-1, p < 0.05 (control subjects: 0.36 +/- 0.10)]. On the other hand, insulin treatment induced an acceleration of intermediate density lipoprotein apoB turn-over without changing its plasma concentration [77 +/- 37 vs 61 +/- 18 mg.l-1, (control subjects: 17 +/- 3)], by increasing both its production rate [22.6 +/- 9.2 vs 18.2 +/- 9.6 mg.l-1.h-1, p < 0.05 (control subjects: 18.4 +/- 3.2)] and its catabolic rate towards low density lipoprotein [0.34 +/- 0.22 vs 0.22 +/- 0.16 pool.h-1, p < 0.05 (control subjects: 1.02 +/- 0.13)]. Likewise, insulin treatment increased low density lipoprotein apoB production rate [20.2 +/- 7.4 vs 16.9 +/- 7.7 mg.l-1.h-1, p < 0.05 (control subjects: 16.9 +/- 2.3)] and restored a normal low density lipoprotein apoB fractional catabolic rate [0.022 +/- 0.004 vs 0.018 +/- 0.004 pool.h-1, p < 0.05 (control subjects: 0.025 +/- 0.004)], resulting in a constant low density lipoprotein apoB plasma concentration [965 +/- 485 vs 984 +/- 558 mg.l-1 (control subjects: 699 +/- 106)]. CONCLUSION/INTERPRETATION: Insulin treatment in Type II diabetes induces profound metabolic modifications of lipoprotein, resulting in significant decrease of the intravascular residence time of very low density lipoprotein, intermediate density lipoprotein and low density lipoprotein particles. This is likely to make these particles less harmful.

Apolipoproteins B↗