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At least 1,225 records · Page 68Linked to original sources
PubMed1979

Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21.

We report an uncle and niece with duplication and deletion, respectively, of segment 7p15 leads to 7p21 originating from a balanced, intrachromosomal insertion in their mothers. The proposita had prenatal and postnatal growth deficiency, retarded psychomotor development, microcephaly, wide cranial sutures, ocular hypertelorism, small palpebral fissures, apparently low-set and malformed ears, cleft palate, congenital heart defect, hypoplasia of the distal phalanx of first fingers, rocker-bottom feet, persistent cloaca, and imperforate anus. She died at three months. Her maternal uncle has duplication of this segment and is alive at 32 years. He has severe mental deficiency, but normal growth; communicating hydrocephalus was diagnosed at three months.

Abnormalities, Multiple↗
PubMed2003

ICP-MS measurements of lead isotopic ratios in soils heavily contaminated by lead smelting: tracing the sources of pollution.

The Pb isotopic composition (206Pb/207Pb and 208Pb/206Pb) in smelter-impacted soils was measured using a quadrupole-based ICP-MS. Four forest/tilled soil profiles were sampled according to the distance from the lead smelter in Príbram (Czech Republic), prevailing wind direction, geological background and soil type. The results were compared with the Pb isotopic composition of bedrocks and waste materials from Pb metallurgy (smelting slags, air-pollution-control residues). The isotopic composition of soils confirms the predominant role of metallurgy on the general pollution in the area. The highly contaminated soils from the vicinity of the smelter contain up to 35,300 mg Pb kg(-1) and exhibit an isotopic composition close to that of car battery processing (206Pb/207Pb up to 1.177). A coupled concentration/isotopic study of soil profiles showed that the smelter-induced pollution had penetrated even to the mineral soil horizons, indicating an important vertical mobility of Pb contaminant within the soil profile. The calculated downward penetration rate of Pb in soils ranges from 0.3 to 0.36 cm year(-1).

Journal Article↗
PubMed2003

Arrhythmia database for algorithm testing: surface leads plus intracardiac leads for validation.

Ann Arbor Electrogram Libraries (AAEL) is a database of over 500 electrocardiographic recordings made during clinical electrophysiology studies over a period of 15 years. These data are used by university researchers and cardiac device research and development laboratories to develop and test arrhythmia detection algorithms. The AAEL library is in use by all major implantable cardioverter defibrillator manufacturers as well as several Automated External Defibrillator developers. In 1996, the USFDA Center for Devices and Radiological Health licensed a portion of Volumes I for proposed device testing. The data consist of 7 channels of signals: surface leads I, III, V1, an intra-atrial high right atrium (bipolar), an intra-atrial high right atrium (unipolar), an intraventricular right ventricular apex (bipolar), and intraventricular right ventricular apex (unipolar) from the distal catheter electrode. Data were recorded under careful engineering quality control continuously (30 min-1.5 hr) on FM magnetic tape at a tape speed of 3.75 in/s after signal amplification at a filter setting of 1-500 Hz. Amplifier gain and filter settings were held constant during the entire recording procedure and a 1 mV calibration signal was entered as a reference at the time of recording. All patient recordings contain a baseline sinus rhythm, and subsequently induced ventricular tachycardia and/or ventricular fibrillation, or less frequently, supraventricular tachycardia, atrial tachycardia, and/or atrial fibrillation. Data are typically made available in digitized format (1,000 Hz); digital or FM recordings are also available. AAEL recordings are the only widespread intracardiac test files in the industry.

Arrhythmias, Cardiac↗
PubMed2006

On distinguishing cause and consequence: do high somatic cell counts lead to lower milk yield or does high milk yield lead to lower somatic cell count?

Researchers have reported that as milk yield increases composite milk somatic cell count (SCC) is diluted in cattle with no intramammary infection (IMI) and as a consequence, estimates of SCC from high yields are lower than estimates of SCC from low yields in dairy cows without an IMI. To date, estimates of reduced milk yield associated with high SCC because of intramammary infection have not been adjusted for any dilution of SCC. Ignoring dilution is therefore likely to lead to an overestimate of reduction in yield with increasing SCC. This paper investigates scenarios of the possible impact of dilution and inflammation on the association between somatic cell count and yield. The data used to investigate this relationship come from 8373 monthly records of milk yield and composite somatic cell count, together with incidence of clinical mastitis, which were recorded on 850 cows from five dairy cattle farms in Gloucestershire, UK. Two sets of models were used to investigate dilution and inflammation using two-level hierarchical models. The first set of models was used to estimate the linear (dilution) and log10-linear (inflammation) impact of SCC on the outcome variable milk yield. Five general linear models with increasing inclusion of higher test day SCC values were run. The cumulative categories were test day SCC values of up to and inclusive of 30, 50, 100, 200 and 400x10(3)cells/ml. Linear and log linear SCC influences on milk yield were estimated. At low SCC values the linear SCC predictor was dominant, while at higher values the log linear predictor was dominant. Up to 100x10(3)cells/ml there was mostly a slightly negative linear relationship between SCC and yield, potentially indicating a dilution effect. In the second set of models, three approaches to adjust milk loss for dilution were compared with an unadjusted model. In general, dilution-adjusted SCC values fitted the data better and resulted in a slightly lower milk loss per SCC category compared with unadjusted SCC. In all models with a dilution term there was a significant reduction in yield with SCC>200x10(3)cells/ml.

Animals↗
PubMed1982

Sensitivity for Telemed diagnosis of myocardial infarction by use of 12-lead electrocardiogram derived from Frank XYZ leads.

Another comparison of sensitivity for diagnosis of myocardial infarction in conventional and derived 12-lead ECGs processed by the computer diagnostic program of the Telemed Cardio-Pulmonary System is reasonably consistent with the original trial of these two methods of recording ECG signals reported earlier by Dower and Machado. Other similarities and disparities are cited, together with brief comments about the theoretical and clinical implications of those findings and the relationship to a more rigorous analysis from this laboratory.

Computers↗
PubMed2001

Design, syntheses, and structure-activity relationships of indan derivatives as endothelin antagonists; new lead generation of non-peptidic antagonist from peptidic leads.

A new lead generation of non-peptidic ET(A) antagonists from two peptidic ET(A)-selective ones, BQ-123 and FR139317, was performed. Using computer assisted molecular modeling, a putative pharmacophore was constructed from the superposition of the reported three-dimensional structure of the cyclic peptide BQ-123 and a presumable beta-turn active conformation of the linear peptide FR139317 formed by an intramolecular hydrogen bond. According to this model, a new series of indan derivatives were designed and synthesized. Among these, 5-isobutyrylamino-6-(1-naphthylmethyloxy)-3-(2-thienyl)-1-indancarboxylic acid (1b) showed a moderate ET(A) antagonistic activity (IC50 = 28 microM).

Antihypertensive Agents↗
PubMed1996

Kinetics of nonenzymatic glycation of ribonuclease A leading to advanced glycation end products. Paradoxical inhibition by ribose leads to facile isolation of protein intermediate for rapid post-Amadori studies.

Nonenzymatic glycation (Maillard reaction) of long-lived proteins is a major contributor to the pathology of diabetes and possibly aging and Alzheimer's disease. We report here kinetic studies of the glycation of the model protein ribonuclease A by glucose and ribose leading to the formation of antigenic advanced glycation end products ("AGEs"), detectable by AGE-specific polyclonal antibodies, and pentosidine, an acid-stable fluorescent AGE. As anticipated, the kinetics of glycation by ribose were considerably faster than by glucose, and the rate of AGE formation initially increased with increasing sugar concentrations. However, ribose above 0.15 M appeared to paradoxically slow the kinetics of AGE formation, suggesting ribose inhibits the conversion of "early" Amadori rearrangement products to "late" AGEs and thus favors the accumulation of reactive Amadori intermediates. The facile isolation of such protein intermediates was achieved by an "interrupted glycation" protocol which free and reversibly bound (Schiff base) ribose was removed following a short (24h) initial incubation of 0.5 M ribose at 37 degrees C. The kinetics of buildup of the Amadori intermediates and the kinetics of their post-Amadori conversion to antigenic AGEs were independently studied. A rapid and reversible inhibition of the post-Amadori kinetics by free ribose was verified by direct re-addition of ribose to the isolated, sugar-free intermediate. The pH dependence of the kinetics of antigenic AGE formation from such intermediates was measured and exhibited an unusual bell-shaped profile over the pH range of 5.0-9.5 with a maximum near pH 8.0. Aminoguanidine, a pharmacological AGE inhibitor, was found to moderately or weakly inhibit antigenic AGE formation in such post- Amadori steps. The isolation of the glycated ribonuclease intermediate thus simplifies kinetic and mechanistic studies of AGE formation, permits AGE studies in the absence of complications arising from free or Schiff base bound sugar, and provides a novel methodology for evaluating the mechanism and efficacy of therapeutic agents that may inhibit AGE formation.

Antibodies↗
PubMed2005

A bicapped trigonal-prismatic lead complex: catena-poly[[[aquabis(1,10-phenanthroline-kappa2N,N')lead(II)]-mu-squarato-kappaO1:kappa2O2,O3] dihydrate].

The asymmetric unit of the title compound, {[Pb(C4O4)(C12H8N2)2(H2O)].2H2O}n, contains one squarate dianion, two phenanthroline (phen) ligands and one aqua ligand all coordinated to Pb, and two solvent water molecules. The eight-coordinate Pb metal ion displays a distorted bicapped trigonal-prismatic coordination environment, defined by three squarate O atoms, four N atoms from two chelating phen ligands and one O atom from the coordinated water molecule. The crystal structure contains chains of squarate-1,2,3-bridged PbII ions running in the [010] direction. These polymeric chains are linked to one another via offset face-to-face pi-pi interactions between the phen ligands, which lead to a two-dimensional network extending along the (001) plane. The crystal structure is also stabilized by O-H...O intermolecular hydrogen-bond interactions, forming a three-dimensional network.

Journal Article↗
PubMed2004

Early pacemaker lead thrombosis leading to massive pulmonary embolism.

Clinically apparent pulmonary embolism is a rare complication of permanent transvenous pacing catheters. Here we report an unusual case of a 71-year-old man who developed massive pulmonary embolism 12 hours after a permanent transvenous pacemaker implantation in the absence of any patient-related predisposing factor. Transesophageal echocardiography showed a large thrombus within the right atrium closely attached to the pacemaker lead. Anticoagulation with heparin, followed by warfarin therapy, led to a complete resolution of the thrombus.

Aged↗
PubMed1976

Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain.

The first example of the premature termination of a polypeptide chain in man appears to be Hb McKees Rocks, beta145 Tyr leads to Term, discovered in polycythemic members of a Caucasian family. Point mutation has apparently occurred at the codon for Tyr beta145 from UAU to a "nonsense" codon, UAA or UAG, resulting in a shortened polypeptide chain with Lys 144 as its carboxyl-terminal amino acid. Evidence for this structural conclusion is the absence of tryptic peptide betaT-15 from "fingerprints" of the abnormal beta-chain, the finding of C-terminal Lys, and the similarity between the functional properties of this variant hemoglobin and those of des Tyr (145)-His(146)beta hemoglobin resulting from carboxypeptidase-A digestion of normal human hemoglobin. Hb McKees Rocks has markedly abnormal properties: its oxygen affinity is the highest of the human variants described to date; its Bohr effect is reduced; it is devoid of subunit cooperativity; and it is unaffected by 2,3-diphosphoglyceric acid. These properties are probably the consequences of decreased stability of the T quaternary conformation and are partially restored in the presence of the strong allosteric effector inositol hexaphosphate.

Adult↗
PubMed2001

Do self-help interventions in health education lead to cognitive changes, and do cognitive changes lead to behavioural change?

OBJECTIVES: The present study examined the extent to which self-help interventions change specific cognitions and the extent to which changes in such cognitions are related to behavioural changes. DESIGN: A randomized field experiment with follow-ups after 2 weeks and 3 months. METHOD: Smokers (N = 1546) were randomly assigned to one of four conditions offering smoking cessation self-help materials containing (1) outcome information, (2) self-efficacy enhancing information, (3) both sorts of information, or (4) no information. RESULTS: First, with regard to behavioural effects, only self-help interventions that included self-efficacy enhancing information were more effective than no information. Second, with regard to the cognitive changes, the data showed that outcome information led to increase in expected positive outcomes but also to increases in self-efficacy expectations. Further, self-efficacy-enhancing information led to increases in self-efficacy. Third, different cognitive changes between T1 and T2 were related to different types of quitting activity at T3 in different groups of smokers. CONCLUSIONS: Some types of information lead to specific cognitive changes, while other types have more generalized cognitive effects. Further, cognitive changes produced by a self-help intervention predict future quitting activity.

Clinical Trial↗
PubMed2003

Surgical treatment of pacemaker and defibrillator lead endocarditis: the impact of electrode lead extraction on outcome.

BACKGROUND: Cardiac device (CD) endocarditis is an infrequent but potentially lethal infectious complication of permanent pacemakers or implantable cardioverter-defibrillators (ICDs), and mortality rates of 30 to 35% have been reported. Medical treatment has been suggested for the treatment of CD endocarditis, but there is increasing evidence that surgical treatment is to be preferred as the best approach to achieve eradication of the infection and reduce mortality. OBJECTIVE: To evaluate the following: (1) the clinical and echocardiographic characteristics of patients with pacemaker or ICD endocarditis, (2) the outcome of this population depending on the mode of treatment (medical vs surgical treatment), and (3) the clinical, microbiological, echocardiographic, and therapeutic variables associated with patient outcome. DESIGN: Prospective cohort study. SETTING: Tertiary referral center in Barcelona, Spain. PATIENTS: All consecutive patients with infectious endocarditis (IE) admitted to the study institution between 1990 and 2001 were prospectively evaluated by a multidisciplinary treatment team, and a definite diagnosis of CD endocarditis was established when cases met pathologic or clinical criteria according to the Duke criteria. RESULTS: A total of 31 patients, 25 men and 6 women aged 61 +/- 15 years (mean +/- SD), with pacemaker or ICD endocarditis were identified among 669 consecutive patients (4.6%) with IE. During the study period, a total of 3,768 pacemakers and 460 ICDs were implanted in the study institution. In 22 cases of pacemaker endocarditis, the pacemaker was implanted in our institution, and 9 cases were referred from other institutions (incidences of endocarditis on pacemaker and ICD implanted in our institution of 0.58% and 0.65%, respectively). Medical treatment without removal of the pacing system was initially performed on seven patients; all of them (100%) had relapses of endocarditis, and one patient died. The remaining 24 patients underwent surgical removal of the pacing system; 1 patient had one relapse, 3 patients died after surgical treatment, and the others were successfully cured with no relapses after a mean follow-up of 38 +/- 9 months. Clinical, echocardiographic, microbiological, and therapeutic variables were evaluated in association with prognosis. The only prognostic factor for failure of treatment or mortality was the absence of surgical treatment (p < 0.0001). CONCLUSIONS: Electrode lead endocarditis occurred in < 1% of pacemaker and ICD implants. Conservative treatment without explantation of all hardware failed in all patients, and surgical treatment during antibiotic therapy was effective in eradication of infection but was associated with a 12.5% mortality. The only patient characteristic associated with treatment failure or death was the absence of surgical removal of all infected hardware. Complete extraction of the pacemaker or ICD should be considered as standard therapy for most patients with CD endocarditis.

Aged↗
PubMed2001

Leading into the 21st century: changing the vision and leading toward success.

This article depicts real challenges facing nursing leaders today. Today's health care climate is fraught with many conflicts necessitating nursing leaders to guide their staffs in more positive, productive models of care delivery. This article explores the experience in one organization of seeking an alternative model of care delivery. The needed leadership skills and expertise in leading the implementation of trained teams are highlighted for each phase of the implementation. The background for success is illustrated as well as the successful outcomes of this endeavor. The transdisciplinary model was a new concept to a nursing director who was seeking a better way to bring all health care disciplines on her unit together. It was her goal to expand and reinforce the team's definition of care integration and to define and operationalize a unique method of care delivery. The process and outcomes are outlined, focusing on successes and failures. It highlights the strengths of the transdisciplinary model, not only for the patient, but also for the staff.

Humans↗