Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ABNORMALITIES”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

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

At least 109 records · Page 6Linked to original sources
PubMed1996

The abnormal eosinophils are part of the leukemic cell population in acute myelomonocytic leukemia with abnormal eosinophils (AML M4Eo) and carry the pericentric inversion 16: a combination of May-Grünwald-Giemsa staining and fluorescence in situ hybridization.

The French-American-British subtype acute myelomonocytic leukemia with abnormal eosinophils (FAB AML M4Eo) with pericentric inversion of chromosome 16 is cytomorphologically defined by a myelomonoblastic blast population and abnormal eosinophils. Until now, it remained an open question whether these abnormal eosinophils are part of the malignant clone or an epiphenomenon. We analyzed five cases of AML M4Eo with inv(16) and combined May-Grünwald-Giemsa staining with fluorescence in situ hybridization using yeast artificial chromosome clone 854E2, which spans the inv(16) breakpoint on 16p. In the case of inv(16), three instead of the normal two hybridization signals can be observed both on metaphase spreads and in interphase cells. With this approach, we were able to show inversion 16 in abnormal eosinophils and, therefore, identified them as a part of the leukemic cell population.

Adult↗
PubMed1996

Thrombocytemia and abnormal megakaryopoiesis associated with abnormality of chromosome 1p34 in myelodysplastic syndromes.

Myelodysplastic syndromes (MDS) are a heterogeneous group of diseases characterized by a cytopenia related to abnormal proliferation and differentiation of marrow precursor cells. Some subtypes of MDS are associated with thrombocytemia or abnormal megakaryopoiesis and certain specific karyotypic abnormalities. We report on four cases of MDS with normal or elevated blood platelet count and a recurring abnormality in chromosome 1p34. The gene involved appears to be different from c-mpl and TPO.

Aged↗
PubMed1999

Does abnormal branching of inputs to motor neurones explain abnormal muscle cocontraction in cerebral palsy?

The common synaptic drive shared between two groups of motor neurones synchronizes the timing of discharges between the motor-neurone groups. Recordings were made of motor-unit discharges during cocontraction of ipsilateral pairs of thumb muscles in eight subjects with cerebral palsy (CP) aged 4 to 13 years and eight neurologically healthy subjects aged 4 to 12 years, and in pairs of lower-limb muscles in 21 subjects with CP and 21 control subjects, both aged 3 to 15 years. Common synaptic drive, likely to be derived at least partly from activity in branched corticospinal-tract neurones, produced motor-unit synchronization between pairs of thumb muscles in control subjects but was absent in all subjects with CP. Motor unit synchronization was not found between lower-limb antagonist muscles that cocontract abnormally in CP, nor was synchronization present in more widely separated muscle pairs. Therefore, abnormal patterns of muscle activation and more widespread muscle reflex responses do not result from an abnormal distribution of common synaptic drive in CP.

Adolescent↗
PubMed2004

Is the degree of fetal hepatosplenomegaly with transient abnormal myelopoiesis closely related to the postnatal severity of hematological abnormalities in Down syndrome?

We present three cases of transient abnormal myelopoiesis associated with trisomy 21 in which hepatomegaly was apparent during the fetal period. In the first case, the fetal hepatosplenomegaly was severe, multiple organ failure occurred in the neonatal period and death ensued at 4 weeks of age. In the second case, the hepatomegaly was moderate, and with conservative treatment in the neonatal period the outcome was good. In the third case, hepatomegaly was mild and improved spontaneously, and the hematological abnormalities required only conservative treatment in the neonatal period. Our experience raises the question of whether fetal hepatosplenomegaly is a predictor of transient myeloproliferative disorder with trisomy 21 and whether the degree of fetal hepatomegaly is a marker for the neonatal severity of hematological abnormalities.

Adult↗
PubMed1996

The abnormal distribution of mossy fiber bundles and morphological abnormalities in hippocampal formation of dreher(J) (dr(J)/dr(J))mouse.

The organization of pyramidal cells and mossy fibers in the hippocampal formation of homozygous dreher(J) mutant mice was investigated using Timm's and Golgi methods. Five clear abnormalities were found: (1) some pyramidal cells were located below the infrapyramidal mossy fiber layer, (2) mossy fibers emerged in diffuse fashion from between the suprapyramidal and infrapyramidal mossy fiber layers, and their fibers invaded within the pyramidal cell layer, where they traveled as 3-6 small, usually quite short, bundles, (3) some normally situated pyramidal cells had unusual contacts with mossy fibers at two or three places on their apical and/or basal dendrites, (4) some normally situated pyramidal cells had abnormal dendritic trees typified by the occurrence of fine-caliber dendritic branches extending out of the apical dendrite or the apical portion of the soma, and (5) a few Timm positive fibers extending from the dentate hilus to the dentate molecular layer in both dreher(J) and control mice were observed. These abnormalities indicate that in the hippocampal formation a variety of cell populations and neuronal circuits can be indirectly modified by the dreher mutation.

Animals↗
PubMed1979

Abnormal neutrophil maturation in a neutrophil defect with morphologic abnormality and impaired function.

Neutrophils from a patient with recurrent pyogenic infections since infancy were found to have morphologic abnormalities and impaired functions. The neutrophils had an abnormal nuclear shape, no or few secondary granules, and no alkaline phosphatase activity. Primary granules were normal in number and structure, and were positive for peroxidase. Immature granulocytes were structurally normal. The neutrophils were impaired in chemotaxis and bactericidal capacity. The patient's marrow cells formed increased numbers of granulocytic colonies of small size in culture. Her peripheral leukocytes produced elevated levels of CSA and adherent marrow cells did not inhibit colony formation. These data indicate an intrinsic neutrophil defect which allows normal proliferation of precursor cells, but results in abnormal morphogenesis and impaired function as the cells mature.

Bone Marrow↗
PubMed1984

Why physicians don't pursue abnormal laboratory tests: an investigation of hypercalcemia and the follow-up of abnormal test results.

For unknown reasons, physicians often ignore unsolicited clinical data. This is thought to impair the quality of medical care and the efficacy of screening programs. To investigate this problem the authors followed 156 consecutive hypercalcemic patients for nine to 15 months. Twenty-eight were lost to follow-up, and the hypercalcemia was ignored in 26. Calcium tests were repeated for 102, and hypercalcemia was confirmed in 53. Of these, 39 were and 14 were not further investigated. Analysis by logistic regression revealed a highly significant relationship between the degree of hypercalcemia and the likelihood that calcium testing would be repeated or that abnormal levels would be further investigated. The authors conclude that, contrary to common opinion, when physicians ignore abnormal laboratory values they are making complex clinical judgments based on the degree of abnormality, the likelihood that further investigation will affect therapy, and the cost of the risk associated with further investigation. Evaluation and attempts to modify this behavior should take into account the complexity of these decisions.

Adult↗
PubMed2000

Chromosome abnormalities in malignant melanoma: clinical significance of nonrandom chromosome abnormalities in 206 cases.

We report the cytogenetic abnormalities from a series of 206 primary malignant melanoma specimens referred to a single institution. A total of 169 out of 206 unique cases had chromosome breakpoints. A previously described statistical method was used to detect nonrandom distribution of chromosome breakpoints at the level of chromosome regions. Nonrandom occurrence of chromosome breakpoints (indicating that the observed number of breaks significantly exceeded the expected number of breaks) was detected in 28 regions, suggesting a hierarchy of genetic abnormalities in melanoma. Clinical variables and tumor characteristics were analyzed for associations with the presence of any nonrandom chromosome breakpoints; with individual, nonrandomly involved chromosome regions; and with paired, nonrandomly involved chromosome regions. No nonrandomly involved chromosome regions or pairs of regions appeared to significantly affect survival. These results identify recurring, nonrandom chromosome abnormalities in malignant melanoma. These results suggest that recurring, nonrandom chromosome alterations play a key role in the etiology and/or progression of malignant melanoma and identify targets within the genome for molecular genetic studies.

Chromosome Aberrations↗
PubMed1994

Bleeding time in patients with cirrhosis: relation with degree of liver failure and clotting abnormalities. C.A.L.C. Group. Coagulation Abnormalities in Cirrhosis Study Group.

Patients with cirrhosis suffer from a complex haemostatic disturbance, due to abnormalities in clotting and fibrinolytic system activation and in primary haemostasis. The latter is indicated by a prolongation of bleeding time, which is a reliable indicator of platelet function in vivo. To further assess the relationship between bleeding time, degree of liver failure and clotting abnormalities in patients with cirrhosis, bleeding time was investigated in a prospective study of 70 consecutive patients with cirrhosis diagnosed by liver-needle biopsy, of whom 19 belonged to Child-Pugh class A, 29 to B and 22 to C. Among patients with cirrhosis, 40% had an abnormal bleeding time (> 10 min), and 42% had a platelet count < 100,000/microliters. Patients with severe liver failure (class C) had a lower platelet count and a more prolonged bleeding time than patients in classes A and B. Bleeding time was significantly inversely correlated to platelet count, fibrinogen, prothrombin activity and packed cell volume, and directly correlated to serum bilirubin and D-dimer. However, in class C patients, only a significant inverse correlation between bleeding time and fibrinogen was observed. These findings indicate that in cirrhosis worsening of platelet function is closely related to the degree of liver failure. The inverse correlation between bleeding time and fibrinogen indicates that a low value of this clotting parameter may account in part for platelet dysfunction.

Bleeding Time↗
PubMed1988

Abnormal eating attitudes in London schoolgirls--a prospective epidemiological study: factors associated with abnormal response on screening questionnaires.

One thousand and ten unselected London state schoolgirls were screened by questionnaire to identify an 'at risk' cohort displaying abnormal eating attitudes and two control cohorts, one with probable general psychiatric morbidity, one without. Members of all cohorts were assessed at interview for the presence of eating disorder and for putative risk factors implicated in the development of anorexia nervosa. A prevalence rate of 0.99% was detected for clinical eating disorder and 1.78% for the partial syndrome of eating disorder. Factors specifically associated with abnormal eating attitudes were identified, in particular, current or past overweight, history of amenorrhoea and perceived stress in school and social life. Some commonly accepted risk factors for eating disorders were discovered to be associations with general psychiatric morbidity. These were perceived parental pressure to eat more, taking exercise to lose weight, perceived stress at home and reporting a family history of anxiety or depression. Other well reported putative risk factors for eating disorder, including social class, birth order, age at menarche, obsessional personality and weight related career choice were not associated specifically with abnormal eating attitudes in schoolgirls. These findings represent cross-sectional data at entry into a prospective epidemiological study.

Adolescent↗
PubMed1996

Elevated hepatic gamma-glutamylcysteine synthetase activity and abnormal sulfate levels in liver and muscle tissue may explain abnormal cysteine and glutathione levels in SIV-infected rhesus macaques.

To establish whether the low cysteine and glutathione levels in HIV-infected patients and SIV-infected rhesus macaques may be consequences of an abnormal cysteine catabolism, we analyzed sulfate and glutathione levels in macaques. Muscle tissue (m. vastus lateralis and m. gastrocnemius) of SIV-infected macaques (n = 25) had higher sulfate and lower glutathione and glutamate levels than that of uninfected controls (n =9). Hepatic tissue, in contrast, showed decreased sulfate and glutathione disulfide (GSSG) levels, and increased gamma-glutamylcysteine synthetase (gamma-GCS) activity. These findings suggest drainage of the cysteine pool by increased cysteine catabolism in skeletal muscle tissue, and by increased hepatic glutathione biosynthesis. Cachectic macaques also showed increased urea levels and decreased glutamine/urea ratios in the liver, which are obviously related to the abnormal urea excretion and negative nitrogen balance commonly observed in cachexia. As urea production and net glutamine synthesis in the liver are strongly influenced by proton-generating processes, the abnormal hepatic urea production may be the direct consequence of the cysteine deficiency and the decreased catabolic conversion of cysteine into sulfate and protons in the liver.

Animals↗
PubMed1984

The role of laser nephelometer in the study of abnormal clotting factors: characterization of two abnormal antithrombins (AT III Padua and AT III Padua2).

The immunologic concentration of two abnormal antithrombins III (AT III), namely antithrombin III Padua (AT III Padua) and antithrombin III Padua2 (AT III Padua2) and the kinetics of the reaction of these two ATs III with an anti AT III antiserum was investigated by means of a laser nephelometer. The immunologic concentration of these two AT III both in presence (0.2 IU/mL) or absence of heparin was normal. On the contrary, the analysis of kinetics behavior demonstrated that AT III Padua is radically different from pooled normal plasma both in presence or in absence of heparin. This was not the case for AT III Padua2, which showed no difference from pooled normal plasma regardless of the presence or absence of heparin. Both abnormal antithrombins III reached the plateau of the reaction at about the corresponding value of pooled normal plasma, indicating a normal antigen level. These experimental data were analyzed by means of a computer (Apple II 48 RAM) programmed to solve a four unknowns equation (Rodbard's equation). This analysis showed that the time needed to reach half of the maximum voltage, i.e., the parameter C, which is expressed in minutes, is clearly longer in the case of AT III Padua samples (heparinized or not) as compared with pooled normal plasma. Moreover, the time at which the maximum rate was reached was also longer. On the contrary, in the case of AT III Padua2 there is no difference from pooled normal plasma. These data confirm the view that a different kind of defect is present in these two AT III abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)

Antigen-Antibody Reactions↗
PubMed2001

Abnormal thiol reactivity of tropomyosin in essential hypertension and its association with abnormal sodium-lithium countertransport kinetics.

OBJECTIVES: To identify a thiol protein that is abnormal in a subgroup of essential hypertensive (EHT) patients who have a strong family history of hypertension and cardiovascular disease and have a low Km of erythrocyte Na/Li countertransport (CT). METHODS: To detect biotin maleimide labelling of a key thiol protein to investigate its reaction with N-ethylmaleimide (NEM) in normal and EHT erythrocytes. RESULTS: The thiol protein of 33 kDa apparent molecular weight (p33) identified by the loss of labelling with biotin maleimide was identified as tropomyosin due to its retarded running in 6 mol/l urea gels and immunoblotting. The NEM reaction with p33 detected by loss of subsequent biotin maleimide labelling is biphasic in normal control erythrocytes with the rate in the first 30 s double that after 30 s. In EHT erythrocytes NEM reaction (1) after 30 s is faster than normal and (2) in the first 30 s causes a paradoxical increase in apparent biotin maleimide labelling. In normal control erythrocytes, the loss of biotin maleimide labelling with NEM reaction or the faster phenylmaleimide reaction follows the same time course as the decrease in Km of Na/Li CT. CONCLUSIONS: NEM reaction with p33 requires two thiols. Only the cytoskeletal form of tropomyosin from the TM3 gene has more than one thiol group and agrees with SDS-PAGE mobility. Tropomyosin is a strong candidate to explain the familial abnormality in EHT with abnormal Na/ Li CT and it could explain many of the characteristics of this disease.

Biotin↗
PubMed1997

Detection of electrolyte abnormalities in children presenting to the emergency department: a multicenter, prospective analysis. Detection of Electrolyte Abnormalities in Children Observational National Study (DEACONS) Investigators.

OBJECTIVE: To prospectively derive high-yield criteria for the detection of clinically significant electrolyte abnormalities (CSEAs) in children presenting to the ED. METHODS: A prospective, multicenter, observational study was performed at the EDs of 2 urban teaching hospitals, a university medical center, and a children's hospital with a combined census of > 275,000 patient visits/year (100,000 visits for children < 13 years old). All children < 13 years old who had electrolyte panels obtained were eligible for analysis. A data form containing potential predictor variables for a CSEA was completed by the clinician prior to receipt of electrolyte results. A CSEA was any abnormal electrolyte value that 1) stimulated constructive assessment of the patient's condition (monitoring, reevaluation of nonspurious laboratory values, or admission), 2) led to further diagnostic studies, 3) led to a new diagnosis, or 4) affected therapy. chi 2 recursive partitioning was used to derive a decision rule for ordering electrolytes. RESULTS: Of 715 eligible patient visits, 488 (68%) electrolyte panels contained a laboratory abnormality, with 182 (25%) CSEAs. A decision rule requiring 1 of 6 clinical criteria was 100% sensitive (95% CI 98-100%) and 24% specific (95% CI 21-28%) in detecting CSEAs with positive and negative predictive-values of 31% (95% CI 28-34%) and 100% (95% CI 97-100%), respectively. If these criteria had been used to screen patients for whom electrolyte panels were ordered, 128 patients (18%) would not have had electrolyte panels obtained and no CSEAs would have been missed. CONCLUSION: A set of clinical criteria was derived that may be useful for limiting electrolyte panels ordering in children. This criterion set requires prospective validation in a separate patient population.

Adolescent↗
PubMed1991

An abnormal pattern of multiple platelet function abnormalities and increased thromboxane generation in patients with primary thrombocytosis and thrombotic complications.

Platelet aggregation (PA) induced by ADP, collagen and epinephrine, plasma levels of beta-thromboglobulin (beta TG) and thromboxane B2 (TXB2) and serum TXB2 generation were studied in 11 patients with primary thrombocytosis (7 with essential thrombocythaemia and 4 with polycythaemia vera) and compared with 16 healthy subjects. 5 patients suffered from peripheral vascular ischaemia and another 3 had venous thrombosis, but none had bleeding complications. The patients showed an abnormal pattern of platelet function and of thromboxane generation distinct from the healthy subjects in three aspects. a) Shape change was 5-26 times greater, the lag-time of collagen PA was 2.3-2.9 times longer and the extent of epinephrine PA was nil or very low. ADP- or collagen-induced PA was also reduced (p less than 0.02). b) Plasma TXB2 generation (corrected to a normal platelet concentration) stimulated by the three PA inducers was within the range of the healthy subjects in spite of the reduced extent of PA. c) Plasma beta TG level and serum TXB2 generation (both corrected to a normal platelet concentration) were 2.9-7.1 times higher (p less than 0.001) indicating enhanced in vivo platelet activation and possibly increased thrombin generation. These abnormalities were not detected in another 4 patients with secondary thrombocytosis. The abnormal pattern of platelet function and thromboxane generation can be a useful laboratory method in the evaluation of patients with primary thrombocytosis. It might also explain the thrombotic complications which occurred in 8 of the patients in a manner such that increased or normal TXB2 generation overcomes the reduced extent of PA. In this respect, the pronounced serum TXB2 synthesis might be a marker of intravascular thrombosis.

Female↗
PubMed1997

Inherent abnormalities in oxidative metabolism in Alzheimer's disease: interaction with vascular abnormalities.

Extensive studies over the last 20 years have documented the existence of inherent abnormalities in oxidative/energy metabolism in Alzheimer's disease (AD). These abnormalities can be linked to characteristics of AD by plausible pathophysiological mechanisms for which there is abundant, robust evidence. The inherent abnormalities in cerebral metabolism of oxygen and glucose can reasonably be expected to interact synergistically with vascular compromise of cerebral oxygen and glucose metabolism in causing brain damage in AD.

Alzheimer Disease↗
PubMed1986

Right ventricular abnormalities in ventricular tachycardia of right ventricular origin: relation to electrophysiological abnormalities.

Patients with right ventricular tachycardia may have adverse electrophysiological abnormalities linked to disturbed right ventricular structure. Seventeen patients who presented with right ventricular tachycardia without coronary artery disease or gross abnormalities of left ventricular function were studied. Patients had the ventricular tachycardia characterised at electrophysiological study and most underwent radionuclide and contrast angiography. At echocardiography specific attention was paid to the right ventricular chamber size. Two groups were identified at echocardiographic study. In group 1, nine patients had normal left ventricular dimensions and relatively normal features at electrophysiological study. Mean right ventricular ejection fraction was 0.45 by krypton-81 measurement. Group 2 comprised eight patients who had dilatation of right ventricular inflow tract, outflow tract, and right ventricular body. This group had more severe features at presentation and at electrophysiological study. In this group all available echocardiographic measurements of right ventricular chamber size were greater than those of group 1 and outside the normal range. Four of the eight patients in group 2 showed regional right ventricular dyskinesia at echocardiography. Mean right ventricular ejection fraction (0.23) in group 2 was significantly lower than in group 1. One patient in group 2 subsequently died. In patients with right ventricular tachycardia, those with less favourable prognostic features at electrophysiological study may have distinct abnormalities of right ventricular structure that can be identified at echocardiographic study. Echocardiography may be of value in the recognition of potentially malignant clinical and electrophysiological features in this group.

Adult↗
PubMed1983

Abnormal baroreflex control in renal hypertension is due to abnormal baroreceptors.

We determined if baroreflex control (BC) of lumbar sympathetic nerve activity (LSNA) is preserved despite impaired control of heart rate (HR) in rabbits with 6 wk of renal hypertension (HT). Baroreflex responses were determined during transient or steady-state increases (phenylephrine, PE) or decreases (nitroglycerin or caval occlusion) in arterial pressure. Impaired BC of HR was confirmed in conscious and anesthetized HT rabbits with all baroreflexes intact. In contrast, BC of LSNA was preserved in anesthetized HT rabbits. We further determined whether this selective impairment of BC of HR but not of LSNA could be due to an abnormality in the central nervous system (CNS) or in the afferent limb of the baroreflex. With only the left aortic depressor nerve (ADN) intact (other arterial baroreceptor afferents cut), BC of both HR and LSNA in HT was significantly impaired during infusion of PE. However, responses of HR and LSNA to afferent electrical stimulation of the left ADN (all arterial baroreceptor afferents cut) were similar in HT and normotensive controls. We conclude that 1) BC of LSNA is preserved in renal HT even though control of HR is impaired; 2) selective impairment of BC of HR in HT results from an abnormality in the afferent limb of baroreflex and not in CNS; 3) this abnormality in the afferent limb is not sufficient to impair BC of LSNA when all baroreflexes are intact but is sufficient after partial arterial baroreceptor denervation.

Animals↗