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Biomedical subjects

A Gedeon

Publications and source records attributed to A Gedeon.

At least 37 records · Page 2Linked to original sources

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↗

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↗

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↗

Neonatal hygroscopic condenser humidifier.

A hygroscopic condenser humidifier was developed for neonates on mechanical ventilation and was evaluated by laboratory tests and clinically. Humidification provided by the unit was measured in the 10- to 50-ml tidal-volume range at ambient temperatures of 24 degrees C and 38 degrees C. The effect of a leaking patient connection on device performance was investigated. Leakage rates were measured routinely in a neonatal ICU and surgery to determine the clinical significance. In the entire tidal volume and temperature range, the unit provided an inspiratory water content in excess of 30 g/m3 when the leak fraction (volume leaked/volume delivered at Y-piece) was less than 15%. This was found in three out of four cases. In about one out of ten cases, the leak exceeded 30%, which invariably led to corrective action, such as repositioning or changing the endotracheal tube. However, even at a 30% leak, a water content of about 26 g/m3 was still available for humidifying the inspired gas, which corresponds to normal physiologic conditions found in the trachea for nasal breathing of room air.

Humans↗

Noninvasive pulmonary blood flow for optimal PEEP.

Recent data in the literature suggest that effective pulmonary blood flow (Qp) measured invasively as cardiac output minus shunt flow, assumes its largest value at a PEEP level that is optimal in the sense that it also provides close to maximal oxygen delivery. Qp obtained noninvasively from simultaneous measurements of mixed expired and end-tidal CO2-concentrations is therefore proposed as a simple clinical indicator of the effects of PEEP on the cardio-pulmonary system. It is shown that modern respiratory equipment can be easily adapted to implement such a noninvasive evaluation of PEEP therapy. If the method is proven useful an automatic search for optimal PEEP becomes a future possibility.

Humans↗

[Thrombocytopenia induced by heparin. Apropos of 10 cases].

The authors report ten observations of thrombocytopenia induced by heparin complicated with two arterial thrombosis and four deep venous thrombosis. Two deaths and two amputations are to mention. This retrospective study leads to a review of literature: this iatrogenic disease, which frequency is variously estimated, has no relation with the dose and the mode of administration of Heparin. It's mechanism might be immuno-allergic. It's diagnosis depends mainly on the repetition of platelet numerations at the outset period of treatment, and on the rapid and lasting climbing of platelet countings when heparin is stopped. This uncommon and unforeseeable complication indicates to stop Heparin and to start K antivitamin's if necessary.

Adult↗

[Return to work after reconstructive arterial surgery (author's transl)].

The authors studied the conditions of the return to work of 65 patients, with a maximum age of 55 years, after reconstructive arterial surgery. Of the 51 patients who were working at the time of the operation, 46 (90.2%) had started working after an average period of 97 days, but only one of the patients who were no longer working started work after the operation. If the nature and more especially the site of the operation is analyzed, the highest level of return to work was after aorto-iliac surgery (96,4%), with a lower level (81%) after femorotibial operations. In a small group of 6 patients operated upon for aneurysms (of which 5 were aneuryms of the abdominal aorta), 4 had started work again, but after a longer period of 4 months on average. These results are compared with those obtained by a British team in Newcastle (Waters, Proud, and Chamberlain) who conducted a similar study in 1977. These overall results prove that reconstructive arterial surgery is favourable from the social and occupational point of view, as very large proportion of the operated patients continue working, and some of them start work again after having stopped their occupation before the operation.

Adult↗

[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↗

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↗