SEARCH · PubMed Health

Results for “Abnormalities, Multiple”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 865 records · Page 48Linked to original sources

PubMed1996

An acardiac acephalic monster following in-utero anti-epileptic drug exposure.

Acardia, the absence of the heart, is one of the rarest medical anomalies. The exact mechanism which causes this anomaly is still unknown. The authors report the acardiac acephalic fetus of an epileptic mother who was on primidone therapy. The mother who received no antenatal care stopped taking primidone (her sole medication) in the third month of pregnancy with the fear of delivering a malformed baby and had three convulsions until delivery. This is the first reported case of acardia associated with anti-epileptic medication. The cause of the anomaly in this patient may be an unknown genetic defect, the maternal epileptic disorder, the convulsions, the anti-epileptic medication, or a combination of these factors.

Abnormalities, Multiple↗

PubMedDate not supplied

Pancreatic metastases from renal cell carcinoma in von Hippel-Lindau disease.

von Hippel-Lindau (VHL) disease is an unusual inherited chromosomal dominant disease characterized by CNS hemangioblastomas and visceral neoplasms. Multiple abnormalities may involve the abdomen including pathology in the liver, pancreas, kidneys, and adrenal glands. The present case report describes a patient with renal cell carcinoma in von Hippel-Lindau disease. What was most unusual about this case was that the patient also developed pancreatic masses that were metastatic disease from renal cell carcinoma.

Adult↗

PubMed1996

Advances in polycystic kidney disease.

Until recently, the nature of the molecules involved in inherited cystic disease of the kidney remained unknown. These diseases are characterized by the development of multiple abnormal fluid-filled sacs or dilations in the kidney parenchyma, often leading to significant renal failure. The recent characterization of the PKD1 gene product and of other genes involved in murine polycystic models underscores the complexity of the pathways that lead to renal cystic disease.

Animals↗

PubMed2006

Combination therapy with statins and omega-3 fatty acids.

Combined dyslipidemia is the concurrent presence of multiple abnormalities in various lipid subfractions, including elevated concentrations of low-density lipoprotein (LDL) cholesterol and triglycerides (TGs), as well as decreased concentrations of high-density lipoprotein (HDL) cholesterol. The Adult Treatment Panel III (ATP III) guidelines of the US National Cholesterol Education Program (NCEP) lowered the cut points for classification of TG levels, established non-HDL cholesterol levels as a secondary target of therapy in patients with TGs of >or=2.26 mmol/L (200 mg/dL), and defined the metabolic syndrome as a secondary target of therapy. Although 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors (statins) are first-line therapy for most patients with elevated LDL cholesterol, statin monotherapy may not be sufficient to achieve recommended non-HDL cholesterol goals, and statins have only modest effects on reducing TG levels. Similarly, patients whose TG levels remain elevated despite treatment with a TG-lowering agent may require the addition of a statin to provide further TG reduction. In addition, statin therapy may be needed to offset the secondary increase in levels of LDL cholesterol that frequently results from treatment with a TG-lowering agent in patients with marked hypertriglyceridemia. In a number of small studies, the combination of statins and omega-3 fatty acids has been consistently shown to be an effective, safe, and well-tolerated treatment for combined dyslipidemia. Patients with recent myocardial infarction may also benefit from this combination. When considering risks and benefits of adding a second agent to statins for treatment of combined dyslipidemia, omega-3 fatty acids provide additional lipid improvements without requiring additional laboratory tests and do not increase risk for adverse muscle or liver effects.

Anti-Inflammatory Agents↗

PubMed2004

Gene expression patterns in in vitro-produced and somatic nuclear transfer-derived preimplantation bovine embryos: relationship to the large offspring syndrome?

A considerable proportion of the offspring born from somatic nuclear transfer (sNT)-derived and in vitro-produced (IVP) embryos, particularly in ruminants and mice, is affected by multiple abnormalities of which a high birth weight is the predominant feature; a phenomenon that has been called "large offspring syndrome (LOS)". The underlying mechanisms are largely unknown at present, but changes in epigenetic modifications occurring during preimplantation development resulting in perturbed embryonic and fetal gene expression patterns are thought to be involved in the syndrome. This review summarizes results from studies comparing mRNA expression patterns from IVP and sNT-derived embryos to those of their in vivo counterparts, which are regarded as the "gold standard". Numerous aberrations have been observed ranging from suppression of expression to de novo overexpression or more frequently to a significant up- or down-regulation of a specific gene. These observations emphasize the need for further studies during preimplantation embryo development to gain insight in the molecular, preferentially epigenetic, mechanisms regulating embryonic and fetal development. Understanding these mechanisms will help to improve biotechnologies applied to early embryos in all species including humans.

Animals↗

PubMed2005

Polyamines: metabolism and implications in human diseases.

Classically, polyamines is a family of molecules (i.e. putrescine, spermine, spermidine) derived from ornithine according to a decarboxylation/condensative process. More recently, it has been demonstrated that arginine can be metabolised according to the same pathway leading to agmatine formation. Polyamines are essential for the growth, the maintenance and the function of normal cells. The complexity of their metabolism and the fact that polyamines homeostasis is tightly regulated support the idea that polyamines are essential to cell survival. Multiple abnormalities in the control of polyamines metabolism might be implicated in several pathological processes. This paper summarises the knowledge about polyamines metabolism and point out the importance of these molecules as a target for the development of therapeutic tools and nutritional strategy.

Acetylation↗

PubMed2006

Antioxidants in cystic fibrosis. Conclusions from the CF antioxidant workshop, Bethesda, Maryland, November 11-12, 2003.

Although great strides are being made in the care of individuals with cystic fibrosis (CF), this condition remains the most common fatal hereditary disease in North America. Numerous links exist between progression of CF lung disease and oxidative stress. The defect in CF is the loss of function of the transmembrane conductance regulator (CFTR) protein; recent evidence that CFTR expression and function are modulated by oxidative stress suggests that the loss may result in a poor adaptive response to oxidants. Pancreatic insufficiency in CF also increases susceptibility to deficiencies in lipophilic antioxidants. Finally the airway infection and inflammatory processes in the CF lung are potential sources of oxidants that can affect normal airway physiology and contribute to the mechanisms causing characteristic changes associated with bronchiectasis and loss of lung function. These multiple abnormalities in the oxidant/antioxidant balance raise several possibilities for therapeutic interventions that must be carefully assessed.

Animals↗

PubMed2005

Early heart rate recovery after exercise predicts mortality in patients with chronic heart failure.

BACKGROUND: Patients with chronic heart failure (CHF) have multiple abnormalities of autonomic regulation that have been associated to their high mortality rate. Heart rate recovery immediately after exercise is an index of parasympathetic activity, but its prognostic role in CHF patients has not been determined yet. METHODS: Ninety-two stable CHF patients (83M/9F, mean age: 51+/-12 years) performed an incremental symptom-limited cardiopulmonary exercise testing. Measurements included peak O2 uptake (VO2p), ventilatory response to exercise (VE/VCO2 slope), the first-degree slope of VO2 for the 1st minute of recovery (VO2/t-slope), heart rate recovery [(HRR1, bpm): HR difference from peak to 1 min after exercise] and chronotropic response to exercise [%chronotropic reserve (CR, %)=(peak HR-resting HR/220-age-resting HR)x100]. Left ventricular ejection fraction (LVEF, %) was also measured by radionuclide ventriculography. RESULTS: Fatal events occurred in 24 patients (26%) during 21+/-6 months of follow-up. HRR1 was lower in non-survivors (11.4+/-6.4 vs. 20.4+/-8.1; p<0.001). All cause-mortality rate was 65% in patients with HRR1 12 bpm (log-rank: 32.6; p<0.001). By multivariate survival analysis, HRR1 resulted as an independent predictor of mortality (chi2=19.2; odds ratio: 0.87; p<0.001) after adjustment for LVEF, VO2p, VE/VCO2 slope, CR and VO2/t-slope. In a subgroup of patients with intermediate exercise capacity (VO2p: 10-18, ml/kg/min), HRR1 was a strong predictor of mortality (chi2: 14.3; odds ratio: 0.8; p<0.001). CONCLUSIONS: Early heart rate recovery is an independent prognostic risk indicator in CHF patients and could be used in CHF risk stratification.

Chronic Disease↗

PubMed2006

Cardiovascular features of heart failure with preserved ejection fraction versus nonfailing hypertensive left ventricular hypertrophy in the urban Baltimore community: the role of atrial remodeling/dysfunction.

OBJECTIVES: The purpose of this study was to identify cardiovascular features of patients with heart failure with preserved ejection fraction (HFpEF) that differ from those in individuals with hypertensive left ventricular hypertrophy (HLVH) of similar age, gender, and racial background but without failure. BACKGROUND: Heart failure with preserved ejection fraction often develops in HLVH patients and involves multiple abnormalities. Clarification of changes most specific to HFpEF may help elucidate underlying pathophysiology. METHODS: A cross-sectional study comparing HFpEF patients (n = 37), HLVH subjects without HF (n = 40), and normotensive control subjects without LVH (n = 56). All subjects had an EF of >50%, sinus rhythm, and insignificant valvular or active ischemic disease, and groups were matched for age, gender, and ethnicity. Comprehensive echo-Doppler and pressure analysis was performed. RESULTS: The HFpEF patients were predominantly African-American women with hypertension, LVH, and obesity. They had vascular and systolic-ventricular stiffening and abnormal diastolic function compared with the control subjects. However, most of these parameters either individually or combined were similarly abnormal in the HLVH group and poorly distinguished between these groups. The HFpEF group had quantitatively greater concentric LVH and estimated mean pulmonary artery wedge pressure (20 mm Hg vs. 16 mm Hg) and shorter isovolumic relaxation time than the HLVH group. They also had left atrial dilation/dysfunction unlike in HLVH and greater total epicardial volume. The product of LV mass index and maximal left atrial (LA) volume best identified HFpEF patients (84% sensitivity, 82% specificity). CONCLUSIONS: In an urban, principally African American, cohort, HFpEF patients share many abnormalities of systolic, diastolic, and vascular function with nonfailing HLVH subjects but display accentuated LVH and LA dilation/failure. These latter factors may help clarify pathophysiology and define an important HFpEF population for clinical trials.

Age Distribution↗

PubMed2005

Disrupted Schwann cell-axon interactions in peripheral nerves of mice with altered L1-integrin interactions.

The cell adhesion molecule L1 is important for peripheral nerve development. Mice lacking the 6th Ig domain of L1 (L1-6D mice) lose L1 homophilic binding and RGD dependent L1-integrin binding [Itoh, K., Cheng, L., Kamei, Y., Fushiki, S., Kamiguchi, H., Gutwein, P., Stoeck, A., Arnold, B., Altevogt, P., Lemmon, V., 2004. Brain development in mice lacking L1-L1 homophilic adhesion. J. Cell Biol. 165, 145-154]. We examined the ultrastructure of sciatic nerves from L1-6D at postnatal day 7 and 8 weeks. Unmyelinated axons frequently detached at the edge of Schwann cells, and naked axons were observed. Myelin was thinner in L1-6D and abnormal, multiple axons wrapped in a single myelin sheath were routinely observed. Previous work has shown that L1 on axons interacts with a heterophilic binding partner on Schwann cells to facilitate normal peripheral nerve formation. Taken together, it is likely that L1 on axons binds integrins on Schwann cells, resulting in interactions between axons and Schwann cells that are essential for ensheathment and myelination.

Age Factors↗

PubMed2004

The persistence of developmental markers in childhood and adolescence and risk for schizophrenic psychoses in adult life. A 34-year follow-up of the Northern Finland 1966 birth cohort.

Childhood precursors of schizophrenia include multiple abnormalities of development. Continuities between early and subsequent deviance are poorly characterised. We studied associations among premorbid developmental deviance using data at ages 1 year (learning to stand, walk, and speak, attainment of bladder and bowel control) and 16 years (success at school). Generalised linear modelling was used to examine differential linear associations and trends across adult psychiatric diagnoses. In babies who, as adults, suffered schizophrenia or any psychosis, those who learned to stand latest were also more likely to perform poorly at school in both motor and theoretical domains at age 16 when compared with earlier learners. The effect was independent of genetic and perinatal factors. We conclude that the early developmental deviation in the first year of life is associated with lower school performance at age 16. Developmental continuity among children who develop psychoses was stronger than among normal controls and those hospitalized for nonpsychotic psychiatric disorder. These findings are in line with the hypothesis that a neural diathesis is present during postnatal brain development before schizophrenia. This supports the longitudinal dimension and life span models of schizophrenia.

Adolescent↗

PubMed2006

Common variable immunodeficiency: The power of co-stimulation.

Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immune deficiency in adults. CVID is characterized by the sequelae of an antibody deficiency syndrome: an impaired terminal B cell differentiation results in hypogammaglobulinemia and susceptibility to recurrent infections by encapsulated bacteria. The clinical course of CVID is complicated by a plethora of systemic immunopathology, including autoimmunity, lymphoproliferation, malignancy and sarcoid-like granulomas. Phenotypic and functional studies in CVID patients revealed multiple abnormalities within the innate and adaptive immune system. The recent description of monogenic defects in ICOS, TACI and CD19 focussed our interest to an impaired T cell-B cell collaboration within the germinal center and intrinsic B cell defects as possible explanations for the etiology of CVID.

Animals↗

PubMed2005

Caenorhabditis elegans DAZ-1 is expressed in proliferating germ cells and directs proper nuclear organization and cytoplasmic core formation during oogenesis.

The deleted in azoospermia (DAZ) family genes encode potential RNA-binding proteins that are expressed exclusively in germ cells in a wide range of metazoans. We have previously shown that mutations in daz-1, the only DAZ family gene in Caenorhabditis elegans, cause pachytene stage arrest of female germ cells but do not affect spermatogenesis. In this study, we report that DAZ-1 protein is most abundantly expressed in proliferating female germ cells, in a manner independent of the GLP-1 signaling pathway. DAZ-1 is dispensable in males but it is expressed also in male mitotic germ cells. Detailed phenotypic analyses with fluorescence microscopy and transmission electron microscopy have revealed that loss of daz-1 function causes multiple abnormalities as early as the onset of meiotic prophase, which include aberrant chromatin structure, small nucleoli, absence of the cytoplasmic core, and precocious cellularization. Although the reduced size of nucleoli is indicative of a low translational activity in these cells, artificial repression of general translation in the germline does not phenocopy the daz-1 mutant. Thus, we propose that DAZ-1 in C. elegans plays essential roles in female premeiotic and early meiotic germ cells, probably via regulating the translational activity of specific target genes required for the progression of oogenesis.

Animals↗

PubMed1988

Prenatal ultrasonographic recognition of Goldenhar's syndrome.

Goldenhar's syndrome is a series of malformations involving the face, either unilaterally or bilaterally. Other organs, such as the lungs, kidneys, spine, and heart, can also be involved. We report the prenatal ultrasonographic findings with regard to a fetus with multiple anomalies where Goldenhar's syndrome was not diagnosed until after birth. The importance of finding patterns of malformations is stressed to optimize the postnatal care for infants with multiple congenital abnormalities.

Abnormalities, Multiple↗

PubMed1996

Clinical significance of placenta-confined nonmosaic trisomy 16.

Since the introduction of chorionic villi sampling in 1984 we have observed five first-trimester cases of nonmosaic placenta confined trisomy 16. At subsequent follow-up it appeared that all five had an adverse maternal or fetal outcome. In three cases the mother had preeclampsia. Two of the infants were born with multiple congenital abnormalities, including tetralogy of Fallot. All children were growth retarded.

Abnormalities, Multiple↗

PubMed2002

Targeted disruption of one allele of the Y-box protein gene, Chk-YB-1b, in DT40 cells results in major defects in cell cycle.

Y-box or inverted CCAAT box-binding proteins are multifunctional regulators of transcription and translation of several genes. Although YB-1 has been shown to play a key role in cell cycle, to date, there is no direct evidence. We disrupted one allele of Chk-YB-1b in a chicken pre-B lymphocyte cell line, DT40. Compared to wild-type DT40 cells, these heterozygous DT40YB1b(+/-) cells with one copy of the wild-type Chk-YB-1b allele showed multiple abnormalities, which include slower rate of growth, abnormal cell morphology, increased cell size, and increased genomic DNA content. These phenotypic defects resemble those cells that have a block in G2 and/or mitosis (G2/M). In addition, we have observed that a fraction of these heterozygous DT40YB1b(+/-) cells undergo apoptosis. In conclusion, we have discovered major defects in the G2/M phase of cell cycle in YB-1 knocked-out heterozygous mutant cells, providing for the first time direct evidence establishing a crucial role for YB-1 in cell proliferation.

Alleles↗

PubMed2003

Specimen materials, target values and commutability for external quality assessment (proficiency testing) schemes.

BACKGROUND: The objective of external quality assessment is to evaluate clinical acceptability of laboratory results. It is desirable to evaluate intermethod harmonization and traceability to a reference system. METHODS: Conventional matrix-modified processed materials are used in most programs, because they can be produced in large quantities, can have multiple abnormal analytes in the same vial and have excellent stability. The principal limitation of these materials is non-commutability which makes them unsuitable for traceability or harmonization evaluation. Peer group evaluation is used which allows an individual laboratory to confirm appropriate use of a measurement technology and a manufacturer to monitor uniformity in their calibration transfer process. Authentic clinical specimen pools provide commutability but are limited by the quantity available and number of analytes at pathologic levels in the same vial. Hybrid approaches have used authentic clinical specimen pools in conjunction with non-commutable processed materials to determine method-specific matrix-corrected target values which have enabled evaluation of traceability to reference methods. CONCLUSIONS: Conventional processed materials are limited by non-commutability. Pooled clinical specimens are limited by availability. When used together, external quality assessment can evaluate traceability to reference systems and harmonization between test procedures.

Clinical Laboratory Techniques↗

PubMed1984

Electrocardiographic changes during intravenous urography: a study with sodium iothalamate and iohexol.

The electrocardiographic changes induced during a rapid bolus intravenous injection of both a conventional ionic agent (sodium iothalamate) and a new, low-osmolality non-ionic agent (iohexol) have been studied. Multiple abnormalities were observed but in every category significantly less frequently, or not at all, with iohexol. The most common abnormality was an increase in sinus rate of 15 beats/min over the rate during needle insertion. Other abnormalities observed included T-wave flattening and premature atrial and ventricular contractions. Contrary to some previous studies, we did not find that age, known heart disease or an abnormal base-line ECG were statistically significant determinants of subsequent ECG changes on contrast administration. There was, however, a significant correlation between ECG changes and more severe subjective side-effects experienced after the contrast injection. This offers support for the theories suggesting a psychogenic basis for some contrast reactions, since low-osmolality contrast media are known to produce less marked subjective side-effects. The new agents are known to be less cardiotoxic and to produce less profound haemodynamic changes. These factors may also play a part in the observed reduction in ECG disturbance.

Adolescent↗