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Biomedical subjects

A Gedeon

Publications and source records attributed to A Gedeon.

At least 19 recordsLinked to original sources
PubMed1992

Noninvasive cardiac output determined with a new method based on gas exchange measurements and carbon dioxide rebreathing: a study in animals/pigs.

A system has been designed to determine cardiac output noninvasively. The system's main component is a closed breathing circuit and it measures oxygen uptake (VO2), carbon dioxide elimination (VCO2), and end-tidal CO2 partial pressure (PET). As an integral part of the system, periods of CO2 rebreathing can be automatically implemented. The CO2 partial pressure of oxygenated mixed venous blood (Pv) is obtained from the measured exponential rise of the PET value during such a CO2 rebreathing maneuver. A new method is described for estimating the pulmonary blood flow, alveolar ventilation, cardiac output (CO), and mixed venous oxygen saturation (SVO2) from PV, PET, VO2, VCO2, tidal volume, and arterial oxygen saturation. The method was evaluated in 6 anesthetized and mechanically ventilated pigs. A wide range of cardiac output, shunt fractions, and dead space to tidal volume ratios were induced by combinations of bronchoalveolar lavage, hypervolemia, hypovolemia, and variable levels of positive end-expiratory pressure (PEEP). The bias between the CO obtained with the noninvasive technique (CO L/min) and the thermodilution CO (Qt L/min) was 0.13 L/min (SD = 0.78 L/min) and the correlation was N = 64; R = 0.92; CO = 0.95*Qt + 0.38. The bias obtained for double determinations with the noninvasive CO technique was 0.3 L/min (SD = 0.5 L/min). The bias between the noninvasive estimates of Svo2 and the directly measured values was 1.1% (SD = 9.3%). For double determination with the noninvasive technique the bias was -0.9% (SD = 4.7%). It is concluded that in mechanically ventilated pigs the proposed method produces good estimates of CO and SVO2 also in the presence of significant ventilation/perfusion mismatch.

Anesthesia, Closed-Circuit↗
PubMed1992

Fragile-X syndrome: unique genetics of the heritable unstable element.

The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)n copy number and propensity for instability: individuals having large amplifications exhibit somatic variation due to increased instability. The instability of the p(CCG)n repeat, when transmitted through affected pedigrees, explains the unusual segregation patterns of fragile-X phenotype, referred to as the Sherman paradox. All individuals of fragile-X genotype were found (where testing was possible) to have a parent with amplified p(CCG)n repeat, indicating that few, if any, cases of fragile-X syndrome are not familial.

Blotting, Southern↗
PubMed1991

New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.

We describe 14 males from 3 successive generations in a family who have X-linked mental retardation (XLMR), obesity, gynecomastia, speech difficulties, emotional lability, tapering fingers, and small feet. Linkage analysis using markers spread along the X chromosome demonstrated a gene localisation close to the centromere. Maximum lod scores for markers near the centromere, all at theta = 0.00, were 1.36 for DXS72, and 1.46 for DXYS1. The closest flanking markers which showed recombination were DXS84 and DXS94, defining the physical localisation within Xp21.1-q22. DXS255 was fully informative with lod-1 confidence interval for theta of 0.00-0.12. Clinical findings and linkage data in this family distinguish it from the Börjeson-Forssman-Lehmann syndrome and other previously described XLMR syndromes.

Adolescent↗
PubMed1991

Localisation of the MRX3 gene for non-specific X linked mental retardation.

A family is described with five affected males segregating a new gene for non-specific X linked mental retardation (MRX). Linkage analysis localised the gene at Xq28-qter. The maximum lod score was 2.89 with DXS52 (St14) at theta = 0.0. A recombinant was observed with DXS304 (U6.2) defining the proximal limit to the localisation. No evidence for linkage was determined using markers at several points along the remainder of the X chromosome, including the regions known to contain MRX1 and MRX2. This delineates the third gene for non-specific X linked mental retardation, MRX3.

Adult↗
PubMed1991

Non-specific X linked mental retardation.

Non-specific X linked mental retardation (MRX) is mental retardation in persons of normal physical appearance who have no recognisable features apart from a characteristic pedigree. Review of published reports shows that there is clinical variability in the degree of mental retardation within families and genetic heterogeneity, based on gene localisation, between families. We propose a classification based on genetic localisation and a set of minimal clinical features that should be recorded in the hope of identifying possible specific phenotypes.

Genetic Linkage↗
PubMed1990

Successful treatment of intractable gastric ulcers with acetazolamide.

An open-controlled trial performed in gastric ulcer cases resistant to previous cimetidine, antacids, vitamin A and polyvinylbutylether therapy applied for at least 4 weeks. A group of 21 patients treated with acetazolamide was compared with 16 patients treated with cimetidine (controls). The period of management was 3 weeks. The number of healed patients (P = 0.009), the surfaces of ulcers after treatment (P = 0.0166) and the duration of complaints (P = 0.0003) differed favourably and significantly in the acetazolamide group as compared to the cimetidine group. In the acetazolamide group, however, several side effects (in 11 cases metabolic acidosis, in 9 cases tingling of extremities) were registered. Side effects were not seen in the control group. It is supposed that in the treatment of gastric ulcers a compound with less carbonic anhydrase inhibition but with the same or more cytoprotective effect would have wider clinical perspectives than acetazolamide alone.

Acetazolamide↗
PubMed1989

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

We have studied 7 males in one family with mild/moderate intellectual handicap, long thick ears, deep-set eyes, small testes, and post pubertal gynecomastia. The affected males and some of the heterozygous females also had tapering fingers and short, widely spaced flexed toes. The pedigree demonstrates X-linked recessive inheritance. The clinical manifestations are similar to those described in the Börjeson-Forssman-Lehmann (BFL) syndrome but differ in the degree of mental handicap and the absence of "dwarfism" and microcepaly. This milder manifestation may represent either phenotypic or genotypic variation. DNA marker studies demonstrated linkage to the DXS86, DXS51, and F9 cluster at Xq26-q27. The maximum lod score was 2.1 with DXS51, at theta = 0.0. Definite recombinants were observed between DXS10 (at Xq26 but proximal to DXS86), DXS105 (at Xq27 but distal to F9), and BFL. Thus, the regional localization for BFL is Xq26-q27 between DXS10 and DXS105.

Abnormalities, Multiple↗
PubMed1976

[Significance of plasma-protein paracoagulation test in the diagnosis of thromboembolic the disease].

Fibrinogen degradation products were examined by plasma protamine paracoagulation test in 235 cases. The test was positive in about 60% of thrombosis of deep veins, pulmonary embolism, and myocardial infarction cases examined. The test was also positive in 23,4% of women taking oral contraceptives who were free of complaints and symptoms. Because of its easy applicability the test is recommended for screening.

Acute Disease↗
PubMed1975

Intensive care in myocardial infarction: report on 840 cases.

On the basis of 840 cases of acute myocardial infarction an account is given on the activity of a coronary-care-unit organized in a regional hospital. The technical problems involved and the procedures applied are discussed. The complications of the early phase, in particular dysrhythmias, their prevention and treatment are dealt with in detail. While the mortality due to electric failure was significantly reduced by appropriate measures the mortality resulting from muscular insufficiency could not be improved by intensive care.

Anti-Arrhythmia Agents↗
PubMedDate not supplied

Localization of non-specific X-linked mental retardation genes.

Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX) and were MRX1, Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22. Four of these localizations cross the dystrophin brain promoter, a candidate locus for MRX. None of the affected individuals who were tested showed variation suggestive of a deletion. No consistent clinical features were observed between or within 4 of the 5 families. In MRX12, prematurity or low birth weight, hypotelorism and short stature were seen in several affected males. Heterozygote manifestations occurred in 3 families. There was no evidence to suggest involvement of the same gene in more than one family, nor to clinically separate these families into distinct genetic entities. Non-overlapping localizations for MRX1 and MRX10 demonstrate the existence of at least 2 separate loci among these 5 families.

Chromosome Mapping↗
PubMedDate not supplied

The Hygroscopic Condenser Humidifier. A new device for general use in anaesthesia and intensive care.

The design and performance of the Hygroscopic Condenser Humidifier (HCH) are described. In principle the HCH consists of two parts, a conventional Heat-Moisture-Exchanger (HME) and a hygroscopic unit. The hygroscopic action is shown to improve the water retention efficiency of the device by about a factor of two as compared with optimal HME designs. As a result, humidification levels corresponding to around 80% relative humidity at 37 degrees C are obtained in the trachea and this is also achieved when completely dry gases are delivered to the patient. The unit can therefore be used for all procedures in anaesthesia and in intensive care.

Adult↗
PubMedDate not supplied

[Intermittent claudications of arterial origin: some epidemiological and physiopathological features].

The authors repeat part of their report to the 79th French Congress of Surgery, presented in September, 1977. They recall that chronic obstructive arteriopathies affect from 1.5% to 4% of the population, and that in half of the cases, the symptoms are those of a simple intermittent claudication. Atheromatosis is the main cause, but to this must be added many other risk factors, smoking and metabolic disorders, especially glucidic and lipidic ones. There is spontaneous worsening in only half the cases. Other vascular and coronary ailments and problems of the cerebral vessels are responsible for most of the deaths of patients affected by arteriopathies of the lower limbs. The precise pain mechanism of the intermittent arterial claudication, its physio-pathological significance, like the mechanisms of vasomotricity and the development of the collateral circulation, are not yet completely clear. A therapeutic attitude can only be taken keeping in mind these developmental and physiopathological data: claudication is a symptom that does not necessarily mean that the limb is threatened.

Arteriosclerosis↗