PubMed Health⌕ Search

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 1,297 records · Page 72Linked to original sources
PubMed1986

De novo del(6)(q25) associated with macular degeneration.

An eight-month-old girl with a de novo del(6)(q25) is described. She and other previous cases of 6q deletion showed concordance for developmental retardation associated with multiple unspecific congenital abnormalities, which do not yet allow the delineation of a syndrome. However, bilateral macular degeneration was found in the proposita and had been observed in another similar case, so it probably represents a distinctive feature of 6q terminal monosomy. This observation also suggests the existence of a dominant macular degeneration locus within 6q25----qter.

Abnormalities, Multiple↗
PubMed1980

Granulomatous sarcoid nephritis: a cause of multiple renal tubular abnormalities.

We report the eleventh case of granulomatous sarcoid nephritis and review the previous literature. Although not as commonly recognized as calcium nephropath, granulomatous nephritis may be an important cause of morbidity and mortality in patients with sarcoidosis. Its characteristics are similar to other tubulo-interstitial diseases. Mild to moderate albuminuria, microscopic hematuria and sterile pyuria predominate. Hypertension is usually absent and renal size is well preserved. Urinary concentration defects (including nephrogenic diabetes insipidus), renal tubular acidosis and inappropriate glucosuria may also be seen. Interstitial inflammation with non-caseating granulomas, epithelioid and multinucleated giant cells is the usual histologic picture. Intimal thickening is not infrequent and granulomas may occasionally involve the small arteries. Immunofluorescence and electron microscopic findings are non-specific.

Adolescent↗
PubMed1977

[Multiple sex drive abnormalities in a patient with Klinefelter's syndrome].

The authors report various sexual instinct disturbances and, more specifically, exhibitionism and pedophilia of a 25-year-old patient with Klinefelter's syndrome. The patient had committed several punishable offenses and was referred to our specialty clinic for psychologic and psychiatric examinations. Aspects of psychopathology and causal etiopathogenetic relationships of the authors' own observations are discussed and compared with those reported in the literature. Environmental factors are considered to be primarily responsible for the development of sexual perversions. The Klinefelter syndrome as such may be regarded as being of predispositional importance only.

Adult↗
PubMed1996

[Multiple genetic expression abnormalities in gastric cancer].

UNLABELLED: By means of LSAB and ABC techniques, the expressions of p53, c-erbB-2, EGFR and ras were examined on 75 cases of gastric cancer (GC) specimens. RESULTS: (1) The positive rate of p53, c-erbB-2, EGFR and ras expression was 41.3%, 18.7%, 61.3% and 46.7%, respectively. The early cases and the intestinal type cases of GC had higher p53 positive rates than those of the advanced and the diffuse type ones, respectively. Two of 4 cases of severe dysplasia lesions adjacent to carcinoma sites were positive. c-erbB-2 positive immunoreactivity was only localized in the cancer cells, and tissues adjacent to the carcinoma sites were negative. Higher frequencies of c-erbB-2 expression were found in the well-differentiated GC. Positive correlation was found between EGFR expression and degree of malignancy of GC. (2) No correlation was found between the expression of c-erbB-2 and EGFR. (3) The expression of ras correlated positively with EGFR expression, but negatively with c-erbB-2 (P < 0.05). (4) No correlation was found between the expression of p53 and other genes examined. The results demonstrate that many gene abnormalities are present in the process of gastrocarcinogenesis.

Female↗
PubMed2003

Periconceptional multivitamin supplementation and multimalformed offspring.

OBJECTIVE: To study the human teratogenic risk of a folic acid-containing multivitamin. METHODS: We evaluated the data set of two Hungarian intervention studies: a randomized double-blind, controlled trial and a two-cohort, controlled study of the same folic acid-containing multivitamin in participants of the Hungarian periconceptional service. RESULTS: Of 2471 supplemented and 2391 unsupplemented women, 18 and 21, respectively, had multiple congenital abnormalities in the randomized, controlled trial. Of 3056 supplemented and unsupplemented pairs in the two-cohort, controlled study, 33 and 32, respectively, were affected with multiple congenital abnormalities. After the combination of two data sets, the number of cases with multiple congenital abnormalities was 51 in the supplemented group and 53 in the unsupplemented group (odds ratio 0.89; 95% confidence interval 0.45, 1.68). In addition, there was no difference in the occurrence of specified multiple congenital abnormality entities or of unidentified multimalformed informative offspring. CONCLUSION: We found no evidence that periconceptional folic acid-containing multivitamin supplementation either prevents or induces multiple congenital abnormalities.

Abnormalities, Multiple↗
PubMed1982

Multiple pregnancy and fetal abnormalities in association with oral contraceptive usage.

1,000 multiple births were examined in relation to maternal exposure to an oral contraceptive before conception. There was a significantly higher rate of monozygotic twinning among pregnancies which took place within 6 months of cessation of the contraceptive. In the monozygotic group there was a significant increase in the incidence of congenital abnormalities (P less than 0.01) when conception occurred within 3 months of cessation of the contraceptive.

Abnormalities, Drug-Induced↗
PubMed1984

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.

Three unrelated stillborn infants (cases 1-3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin-to-sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low-set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia. Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico-thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio-ulnar synostosis. Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining of the resting cartilages (cases 1, 2). To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4-6) are also presented to show a possible heterogeneity of this syndrome.

Abnormalities, Multiple↗
PubMed2000

Sensory neuron-specific sodium channel SNS is abnormally expressed in the brains of mice with experimental allergic encephalomyelitis and humans with multiple sclerosis.

Clinical abnormalities in multiple sclerosis (MS) have classically been considered to be caused by demyelination and/or axonal degeneration; the possibility of molecular changes in neurons, such as the deployment of abnormal repertoires of ion channels that would alter neuronal electrogenic properties, has not been considered. Sensory Neuron-Specific sodium channel SNS displays a depolarized voltage dependence, slower activation and inactivation kinetics, and more rapid recovery from inactivation than classical "fast" sodium channels. SNS is selectively expressed in spinal sensory and trigeminal ganglion neurons within the peripheral nervous system and is not expressed within the normal brain. Here we show that sodium channel SNS mRNA and protein, which are not present within the cerebellum of control mice, are expressed within cerebellar Purkinje cells in a mouse model of MS, chronic relapsing experimental allergic encephalomyelitis. We also demonstrate SNS mRNA and protein expression within Purkinje cells from tissue obtained postmortem from patients with MS, but not in control subjects with no neurological disease. These results demonstrate a change in sodium channel expression in neurons within the brain in an animal model of MS and in humans with MS and suggest that abnormal patterns of neuronal ion channel expression may contribute to clinical abnormalities such as ataxia in these disorders.

Animals↗
PubMed2002

Abnormal vascular function and hypertension in mice deficient in estrogen receptor beta.

Blood vessels express estrogen receptors, but their role in cardiovascular physiology is not well understood. We show that vascular smooth muscle cells and blood vessels from estrogen receptor beta (ERbeta)-deficient mice exhibit multiple functional abnormalities. In wild-type mouse blood vessels, estrogen attenuates vasoconstriction by an ERbeta-mediated increase in inducible nitric oxide synthase expression. In contrast, estrogen augments vasoconstriction in blood vessels from ERbeta-deficient mice. Vascular smooth muscle cells isolated from ERbeta-deficient mice show multiple abnormalities of ion channel function. Furthermore, ERbeta-deficient mice develop sustained systolic and diastolic hypertension as they age. These data support an essential role for ERbeta in the regulation of vascular function and blood pressure.

Adrenergic alpha-Agonists↗
PubMed2003

Low interleukin-10 production is associated with higher disability and MRI lesion load in secondary progressive multiple sclerosis.

Abnormalities in T-cell-derived cytokine production are a well-known phenomenon in multiple sclerosis (MS). An association between disability and the production of interferon gamma has been demonstrated recently. The present study investigated associations between disability, cytokine production in stimulated blood lymphocytes and magnetic resonance imaging data in 37 patients with the secondary progressive course in the stable phase of the disease. Patients with high interleukin-10 (IL-10) production had significantly lower disability scores (p=0.009) and lower T2 lesion load (p=0.03). Interleukin-10 might not only play a role in the pathological process of multiple sclerosis but has an impact on disease outcome as well.

Adult↗
PubMed2002

Methylmercury, but not inorganic mercury, causes abnormality of centrosome integrity (multiple foci of gamma-tubulin), multipolar spindles and multinucleated cells without microtubule disruption in cultured Chinese hamster V79 cells.

Abnormalities of centrosome integrity and spindle organization in the cultured Chinese hamster fibroblast cell line V79 exposed to methylmercury (MeHgCl) and inorganic mercury (Hg(2+)) were investigated in conjunction with inductions of mitotic arrest and multinucleated cells. The centrosome integrity and spindle organization were investigated by immunofluorescence of centrosome proteins, gamma-tubulin, and beta-tubulin, respectively. MeHgCl at subtoxic concentrations caused an increase in mitotic index 6 h after exposure. Ameboid cells with multiple pseudopodia were also induced and chromosomes were distributed even in the pseudopodia. After the increase in mitotic index caused by MeHgCl, multinucleated cells with multiple micronuclei appeared. MeHgCl caused abnormality of centrosome integrity (multiple foci of gamma-tubulin) colocalized with aberrant spindles in a concentration-dependent manner, while it did not cause disruption of centrosome integrity and microtubule organization in interphase cells. In addition, MeHgCl led to the appearance of monoastral cells with a one-dot signal of gamma-tubulin. By contrast, Hg(2+) did not cause any of the changes induced by MeHgCl. Thus, MeHgCl caused centrosome abnormality and the related changes without microtubule disruption, suggesting that the mitotic centrosome is a critical target for the cytotoxic effects of MeHgCl.

Animals↗
PubMed1997

Body fat distribution, insulin resistance, and metabolic diseases.

Obesity has now developed into a world-wide epidemic and is associated with large economic costs and prevalent diseases, particularly with central body fat distribution. Insulin resistance almost invariably occurs, and might be a major trigger for disease-generating mechanisms either directly or via generation of other disease precursors ("risk factors"). The hypothalamo-pituitary-adrenal (HPA) axis seems to be hypersensitive in abdominal obesity, a statement supported by increased responses to challenges from the adrenals to central regulatory centers. Furthermore, the feedback control by central glucocorticoid receptors, probably a secondary, functional consequence of an elevated HPA axis activity, because the receptor gene appears normal. Secretion of sex steroid and growth hormones is diminished, which might be consequence of elevated HPA axis activity. Hyperandrogenicity in women is probably of adrenal origin and another consequence of the sensitivity of the HPA axis. The endocrine abnormalities thus are periodically elevated cortisol and androgen (women) concentrations, as well as low secretions of gender-specific steroid and growth hormones. Since elevated cortisol, and low sex-steroid and growth hormone secretions, probably direct storage fat to visceral depots, the multiple endocrine abnormalities probably cause enlargement of these depots. Furthermore, these hormonal abnormalities most likely at least contribute to the creation of insulin resistance with additional effects of elevated fatty acids from central fat depots, which are sensitive to lipid mobilization agents. This chain of events indicates the central role of the hypersensitive HPA axis. Known causes of sensitization of this axis have been identified in subjects with abdominal obesity, including depression, anxiety, alcohol, and smoking. A common cause of HPA axis activation is perceived stress, with a depressive, defeatist, or "helplessness" reaction. In subjects with abdominal preponderance of body fat stores a number of psychosocial and socioeconomics handicaps have been identified, hypothetically predisposing to such reactions. In a primate model (monkeys), mild psychosocial stress is followed by identical psychological, endocrine, anthropometric, and metabolic abnormalities as in humans with abdominal preponderance of body fat stores, including early signs of diabetes and cardiovascular disease. These findings strongly support the interpretation that a stress reaction activating the HPA axis is involved also in the human syndrome. Interventions with normalization of the endocrine perturbations are followed by clear improvements of the multiple abnormalities in both clinical, experimental, cellular and molecular studies, suggesting that the pathogenesis of abdominal preponderance of body fat and its endocrine, anthropometric and metabolic abnormalities are indeed consequences of the endocrine abnormalities identified.

Animals↗