Linkage studies on Gilles de la Tourette syndrome: what is the strategy of choice?

For a linkage study it is important to ascertain family material that is sufficiently informative. The statistical power of a linkage sample can be determined via computer simulation. For complex traits uncertain parameters such as incomplete penetrance, frequency of phenocopies, gene frequency and variable expression have to be taken into account. One can either include only the most severe phenotype in the analysis or apply multiple linkage tests for a gradually broadened disease phenotype. Gilles de la Tourette syndrome (GTS) is a chronic neurological disorder characterized by multiple, intermittent motor and vocal tics. Segregation analyses suggest that GTS and milder phenotypes are caused by a single dominant gene. We report here the results of an extensive simulation study on a large set of families. We compared the effectiveness of linkage tests with only the GTS phenotype versus multiple tests that included various milder phenotypes and different gene frequencies. The scenario of multiple tests yielded superior power. Our results show that computer simulation can indicate the strategy of choice in linkage studies of multiple, complex phenotypes.     

Cancer de la prostate : la maladie localisée

Localized prostate cancer is characterized by a tumor confined to the prostate gland at clinical evaluation. Since the onset of PSA screening, the detection of localized prostate cancer has increased. Prognosis factors are clinical stadification, PSA value, PSA doubling time, tumor volume related to needle biopsy pathologic findings (Gleason score, percentage biopsies involved). Treatment depends on tumor prognosis, symptoms and performance status of the patient. Localized prostate cancer can be treated by surgery (radical prostatectomy, high intensity focused ultrasound) or radiotherapy (conformational radiation therapy, brachytherapy). Active follow-up can be proposed to very low risk patients.     

Les traumatismes de la verge: à propos de 23 cas

The authors report 23 cases of penile injuries based on a retrospective study of their urological practice in Senegal. The various cases were distributed as follows: fracture of the penis (19 cases), corpora cavernosa and urethral gunshot injuries (2 cases), rupture of the superficial dorsal vein of the penis (1 case) and laceration of the penile skin (1 case). The mean age of these patients was 32.4 years. Early surgical treatment of all penile fractures reduces the complication rate.     

Lichen biodeterioration of the Convento de la Peregrina, Sahagún, Spain

Lichen encrustations from Diploschistes scruposus involved in the biodeterioration of the 13th Century Convento de la Peregrina in Sahagún Spain, have been analyzed using Raman spectroscopy. The vibrational spectra are characteristic of calcium oxalate monohydrate, beta-carotene, chlorophyll, and para-depside phenolic acids such as atranorin, lecanoric acid, and diploschistesic acid. The destructive colonization of the monumental stonework is highlighted and evidence presented for deleterious lichen invasion of the wall paintings inside the Convent.     

Principes de la lecture critique de la littérature médicale: Illustration urologique

There has been an enormous expansion in scientific literature, especially in the area of health and medicine. At the same time the complexity of the research has increased. Through the reading of medical literature of his field of interest, the physician is in search of useful information. However, reading medical papers is very time consuming and most physicians, for their usual literature review, content themselves with the titles and the abstracts. Moreover, quality and relevancy of the publications vary greatly and the reader must be able to “separate the wheat from the chaff”. Thus the reading of literature needs selection and evaluation. As a result, physicians require critical appraisal skills. The principle of appraisal of medical literature is to assess the value of publications which will influence the medical practice of the reader. The reader has a double objective: to assess the credibility of the publications, and to define the applicability of the publication information. By following eight steps the reader is able to quickly rule out from his reading what is not valid and have an objective look at the quality of the results which are proposed to him. These eight steps comprise the assessment of the study objectives, the study design, the study factor(s), the outcome factor(s), the study population and sample, the confounding factor(s) and bias, the results with their statistical and clinical significance and the power of the study, and, lastly, the synthesis of the reader's judgment. The last word belongs to the clinician facing his patient.     

Physiologie de l’interaction gametique: Revue de la litterature

Our knowledge of gamete interaction in vitro and in vivo has grown rapidly over the last century. Its importance has been reinforced by the development of in vitro fertilization and assisted conception procedures on one hand, and by research on the development of contraceptive vaccines on the other. This literature review synthesizes our current understanding of the successive steps in the fertilization process from sperm capacitation allthrough gamete fusion, including sperm interaction with the cumulus oophorus and the zona pellucida, as well as consideration on the mechanisms and timing of the acrosome reaction.     

Pour une approche « neurocognitive « de la mémoire: apport de la neuropsychologie

Cognitive models suggest that memory consists of potentially independant modules. In addition, clinical data lead to a reference to the central systems that interact with these operative modules, and which assign significance and pertinence to the information being processed. Such an organization fits better with clinicial data, since it can be demonstrated with the example of episodic or procedural memories as both require the activation of strategic processes, under the control of the prefrontal cortex, needed for the organization or the control of the information to be processed.     

Comprendre la dépression : apport de la psychologie évolutionniste

Darwinian medicine considers that many symptoms are the organism’s defence mechanisms and adaptations that have been inherited and shaped by natural selection. But in many cases, signs and symptoms of disease are of no benefit to human survival and are in fact deregulations of normal mechanisms. Evolutionary explanations help us understand how some human affective and emotional processes could have an adaptive value and enable us to cope with a wide spectrum of situations. But the wide range of intensity levels and different forms, ranging from low moods to major depression with psychotic features, suggest that these symptoms cannot always be explained by adaptation: where is the cut-off point? In this paper, we describe the evolutionary concepts related to adaptation as applied to the emotions, particularly focusing on low mood and depression, and discuss their possible functional and adaptive role.     

Plant Growth–Promoting Bacteria Facilitate the Growth of the Common Reed Phragmites australisin the Presence of Copper or Polycyclic Aromatic Hydrocarbons

To test whether plant growth–promoting bacteria might be useful in facilitating the growth of Phragmites australis, the common reed, in the presence of metals and organic compounds, P. australis seeds were treated with plant growth–promoting bacteria. The bacterium Pseudomonas asplenii AC was genetically transformed to express a bacterial gene encoding the enzyme 1-aminocyclopropane-1-carboxylate deaminase, and both the native and transformed bacteria were tested in conjunction with P. australis. Inoculation of seeds, which were subsequently grown in the presence of copper or creosote, with transformed P. asplenii AC significantly increased seed germination. Moreover, the addition of either native or transformed P. asplenii AC to P. australis seeds enabled the plants (shoots and roots) to attain a greater size than noninoculated plants after growth in soil in the presence of either copper or creosote.     

Effets de la radiothérapie sur la fonction testiculaire de l'adulte

Radiation therapy plays a major role in the curative management of numerous neoplasms, such as Hodgkin's disease or testicular cancer. However, the adverse effects of low-dose radiation scattered to radiosensitive normal tissues adjacent to the radiation fields, such as the testes, have been recognized. Experimental studies performed on healthy volunteers showed that no lesion was detectable on sperm counts or testicular biopsies after single doses of less than 10 cGy. Oligospermia has been reported after 15 cGy and 100 cGy result in a 90% incidence of azoospermia. In the radiotherapy of cancer, fractionated regimens are used to increase the differential effect between normal and tumoral tissues. For the same dose, a fractionated radiation regimen results in a higher incidence and a longer period of azoospermia than a single dose irradiation. Fractionated doses of >50 cGy result in a 100% incidence of azoospermia. For doses up to 200 cGy, recovery occurs but normal sperm production remains uncertain. Although the recovery time can be very long (more than 10 years), there is a risk of definitive azoospermia after doses of >200 cGy. Spermatogonia are the most radio-sensitive cell type and their depletion after small irradiation doses explain the effect of radiotherapy on fertility. Clinical hypogonadism is very unfrequent in usual practice, what seems to prove a relative radio-resistance of the Leydig cells. However, functionals studies show that there is a rise in serum LH with increasing dose to the testes. A decrease in testosterone levels has been reported after high testicular doses.     

Croissance et sporulation de 6 espèces d'Entomophthorales II. Influence de diverses sources d'azote

Résumé La croissance et la sporulation d'Entomophthora sp. aff. obscura, E. destruens, E. sp. aff. thaxteriana, E. virulenta, Basidiobolus ranarum et Conidiobolus osmodes sont étudiées sur des milieux gélosés contenant différentes sources azotées: 3 nitrates, 6 sels d'ammonium, 16 acides aminés et 6 hydrolysats de protéine sont testés chacun à la concentration de 0,33 g d'azote par litre dans un milieu à base de glucose et de sels minéraux. E. sp. aff. obscura ne se développe pas sur ces milieux. Les 5 autres espèces métabolisent bien les sels d'ammonium, les hydrolysats de protéine et 10 des 16 acides aminés testés. Les nitrates ne sont pas utilisés. Les sources azotées qui assurent une bonne croissance sont également celles qui entraînent une formation importante de spores durables.

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Growth and sporulation of Entomophthora near obscura, E. destmens, E. near thaxteriana, E. virulenta, Basidiobolus ranarum and Conidiobolus osmodes were studied in solid synthetic media containing various nitrogen sources at 0,33 g N/liter. Thirty two nitrogen sources representing nitrates, ammonium salts, amino acids and protein hydrolysates were tested. E. near obscura did not grow on any medium. Protein hydrolysates, ammonium salts and ten of the sixteen amino acids tested were the best nitrogen sources for growth and resting spores production of the five other species.

     

Étude de la cohorte nord-finlandaise de 1966: facteurs prédictifs et conséquences de la schizophrénie

Subtle motor, emotional, cognitive and behavioural abnormalities are often present in apparently healthy children and adolescents who later develop schizophrenia. This suggests that some aspects of causation are established long before psychosis becomes manifest. We aim to assess the factors contributing to the development of schizophrenia focusing mainly on genetic factors, pregnancy and delivery complications, early development and scholastic performance, as well as later educational, social and health consequences. This is done by reviewing the Northern Finland 1966 Birth Cohort, its scientific activities, publications and work in progress.     

Equinocandinas: aspectos aplicados de la farmacología

The echinocandins share pharmacodynamic properties, although there are some interesting differences in their pharmacokinetic behaviour in the clinical practice. They are not absorbed by the oral route. They have a somewhat special distribution in the organism, as some of them can reach high intracellular concentrations while, with some others, the concentration is reduced. They are highly bound to plasma proteins, thus it is recommended to administer a loading dose for anidulafungin and caspofungin, although this procedure is not yet clear with micafungin. Echinocandins are excreted via a non-microsomal metabolism, so the urinary concentration is very low. Some carrier proteins that take part in the biliary clearance process are probably involved in the interactions described with caspofungin and micafungin. These two drugs must be used with caution in patients with severely impaired hepatic function, while all of them can be used without special precautions when there is renal impairment or the patient requires renal replacement therapy.