Autofluorescence Findings Of A Novel Maculopathy In Patient With Spinocerebellar Ataxia Type 1 And Of A Cone - Rod Type Retinal Dysfunction In Three Generation Family With Spinocerebellar Ataxia Type 7

Purpose: To report a novel maculopathy in a patient with SCA1. To describe autofluorescence findings in family with SCA7 and associated cone-rod retinal dysfunction.Methods: 4 affected patients from two families were assessed to investigate a progressive loss of visual acuity (VA). Examinations included fundus photography, autofluorescence (AF) fundus fluorescein angiogragraphy (FFA) and optical coherence tomography. Electroretinogram (full-field) was performed in 2 affected patients. All patients had color vision testing using Ishihara pseudoisochromatic plates. Molecular analysis was performed in family 2.Results: The patient with known diagnosis of SCA1 had a visual acuity of 20/200 bilaterally and dyschromatopsia. He had saccadic pursuit. Fundus examination showed mild retinal pigment epithelium (RPE) changes at the macula. OCT showed bilateral macular serous detachment, which was not obvious at the FFA and explained his VA. AF imaging showed a central hyperfluorescence. The 45 year old proband from family 2 had a visual acuity of 200/20 and dyschromatopsia. ERG testing showed cone type dysfunction of photoreceptors. Her daughter affected at a younger age had the same ERGs findings. Fundus examination showed mild RPE changes in proband, normal findings in her daughter. AF imaging of both patients showed a ring of high density AF around the fovea. The ring was also obvious on near infrared AF. Later onset of gait imbalance led to the diagnosis of SCA7Conclusions: Within the group of spinocerebellar ataxias, only the type 7 is associated with retinal dysfunction. We present the first report of maculopathy associated with SCA1 causing severe vision loss. The ring of high density AF in SCA7 confirmed an early retinal photoreceptor dysfunction in patient with normal fundus.

Autonomie et vulnérabilité : état des lieux et essai d'articulation

Résumé Ce travail a commencé avec une confrontation entre les pensées de P. Ricoeur et E. Levinas sur le thème du rapport à autrui, cette confrontation portant particulièrement sur la place accordée par Levinas, dans son éthique, au thème de la vulnérabilité (ainsi que sur celui de la passivité), tandis que P. Ricoeur reste, selon moi, prioritairement un philosophe de l'activité et qui met, dans la question du rapport à autrui, l'accent sur la reconnaissance de l'autre dans l'empire de ses capacités. Ce débat, et les points qui retenaient en particulier mon attention, m'ont semblé pouvoir être inséré dans le contexte plus large d'une opposition entre éthique de l'autonomie et éthique de la vulnérabilité sur la base de lectures que j'effectuais par ailleurs dans le domaine des éthiques féminines, ou de ce que l'on appelle les éthiques du « care ». Les éthiques féminines, qui se sont développées les 30 dernières années, veulent revenir sur ce qu'elles identifient comme le modèle anthropologique de la modernité, qui privilégie une approche de l'homme en termes d'activité, de rationalité et d'autonomie au mépris d'autres traits comme la passivité, l'affectivité, la dépendance ou la vulnérabilité. Sans nier la rationalité ou l'autonomie de l'homme, elles veulent plutôt compléter une image qu'elles considèrent comme étant incomplète. Sur la base de leur anthropologie alternative, les auteurs qui appartiennent à ce courant proposent une nouvelle définition de l'éthique. Les éthiques du « care » se situent d'une manière générale dans une relation critique avec les éthiques de la justice comme avec les conceptions de l'agent et du patient moral héritées de la philosophie kantienne. Disons brièvement que, plutôt que de faire de l'autonomie et de son respect l'axe de leur réflexion morale, les éthiciennes du « care » insistent sur la signification morale de nos rapports de responsabilité ou de sollicitude à l'égard des personnes vulnérables. Dans la première partie de ma thèse, je reviens sur la genèse de la notion d'autonomie dans la philosophie morale et politique de la pré-modernité, en mettant le développement de ce concept en lien non seulement avec ce que J. Scheewind appelle les « morales de l'autogouvernement », mais aussi avec la naissance des philosophies du sujet et un mouvement général d'intériorisation des sources morales. J'essaye ensuite de dégager le sens de l'idée d'autonomie, sur la base de la notion de liberté positive élaborée par Berlin, avant de distinguer ses différentes significations (autonomie politique, personnelle, morale/autonomie procédurale vs substantielle, autonomie comme capacité, comme droit ou comme idéal). Je me concentre particulièrement sur la conception hiérarchique de l'autonomie personnelle développée par Frankfurt et Dworkin, avant de revenir à la conception kantienne de l'autonomie morale. Je consacre ensuite une section aux conceptions relationnelles de l'autonomie, ce qui me permet de faire le lien avec le thème de la vulnérabilité. Pour le développement historique de cette notion dans la pensée contemporaine, j'insiste, outre sur les éthiques du « care », sur les développements de la bioéthique et la philosophie de H. Jonas. Après un travail de définition du concept de vulnérabilité, j'élabore les éléments d'une éthique de la vulnérabilité que j'essaie d'articuler à la notion d'autonomie. Dans la deuxième partie, je confronte les éthiques de Ricoeur et de Levinas dans la perspective de l'opposition autonomie/vulnérabilité, en montrant leurs limites respectives.

Expérimentation et étude de la validité de nouvelles échelles de personnalité spécifiques à la relation intra-couple

Résumé : La présente étude vise à déterminer quels sont les facteurs permettant de valider de nouvelles échelles de personnalité spécifiques à la relation intra-couple construites sur la base de profils de personnalité en auto- et hétéro-évaluation. Pour ce faire, nous avons défini des critères sociologiques (par exemple âge, niveau socioprofessionnel, nombre de relations passées), des critères psychologiques (satisfaction conjugale) et des critères biologiques (distance génétique et préférence d'odeurs) afin de vérifier s'ils sont susceptibles de valider les six échelles de personnalité intra-couples inédites que nous avons construites dans le cadre de cette recherche de doctorat. Notre échantillon se compose de 106 couples mariés et de 60 jeunes couples non mariés, qui ont chacun complété le test de personnalité L.A. B. E. L. (F Gendre & R. Capel), l'Échelle d'Ajustement Dyadique (Spanier, 1976) ainsi qu'un test génétique pour une partie d'entre eux.

Wound infection after excision and primary midline closure for pilonidal disease: risk factor analysis to improve patient selection.

BACKGROUND: Excision and primary midline closure for pilonidal disease (PD) is a simple procedure; however, it is frequently complicated by infection and prolonged healing. The aim of this study was to analyze risk factors for surgical site infection (SSI) in this context. METHODS: All consecutive patients undergoing excision and primary closure for PD from January 2002 through October 2008 were retrospectively assessed. The end points were SSI, as defined by the Center for Disease Control, and time to healing. Univariable and multivariable risk factor analyses were performed. RESULTS: One hundred thirty-one patients were included [97 men (74%), median age = 24 (range 15-66) years]. SSI occurred in 41 (31%) patients. Median time to healing was 20 days (range 12-76) in patients without SSI and 62 days (range 20-176) in patients with SSI (P < 0.0001). In univariable and multivariable analyses, smoking [OR = 2.6 (95% CI 1.02, 6.8), P = 0.046] and lack of antibiotic prophylaxis [OR = 5.6 (95% CI 2.5, 14.3), P = 0.001] were significant predictors for SSI. Adjusted for SSI, age over 25 was a significant predictor of prolonged healing. CONCLUSION: This study suggests that the rate of SSI after excision and primary closure of PD is higher in smokers and could be reduced by antibiotic prophylaxis. SSI significantly prolongs healing time, particularly in patients over 25 years.

Anopheline species, some of their habits and relation to malaria in endemic areas of Rondônia State, Amazon region of Brazil

In view of recent studies incriminating several species of anophelines, besides Anopheles darlingi, as malaria vectors in the Brazilian Amazon, we performed an anopheline survey in four localities - Ariquemes, Cujubim, Machadinho and Itapoã do Oeste - in Rondônia, the most malarious State in the Country. Twenty species were found. An. darlingi was, by far, the dominant species and the only one whose density coincided with that of malaria. On human baits it was more numerous in the immediate vincinity of houses than indoors whre, however, it was almost the only species encountered. On both situations it fed mostly at sunset and during the first half of the night. It was less numerous far from houses and scarce inside the forest. Other species (An. triannulatus, An. evansae, An. albitarsis, An. strodei) appeared in appreciable numbers only in Ariquemes, both in areas with and without malaria. The remaining species were scanty. An. darlingi was confirmed as the primary local vector.

Enteric parasites and HIV infection: occurrence in AIDS patients in Rio de Janeiro, Brazil

The occurrence of intestinal parasites, its relation with the transmission mechanism of HIV, and the clinical state of the AIDS patients, were analyzed in 99 Group IV patients (CDC, 1986), treated at "Hospital Universitário Pedro Ernesto" (HUPE), between 1986 and 1988. The group consisted of 79 (79.8%) patients whose HIV transmission mechanism took place through sexual contact and of 16 (20.2%) who were infected through blood. Feces samples from each patient were examined by four distincts methods (Faust et al, Kato-Katz, Baermann-Moraes and Baxby et al.). The moste occuring parasites were: Cryptosporidium sp., Entamoeba coli and Endolimax nana (18.2%), Strongyloides stercoralis and Giardia lambia (15.2%). E. histolytica and/or E. hartmanni (13.1%), Ascaris lumbricoides (11.1%) and Isospora belli (10.1%). Furthermore, 74.7% of the patients carried at least one species. Intestinal parasites were found in 78.5% of the patients who acquired the HIV through sexual intercourse and in 56,3% of those infected by blood contamination. The difference, was not statistically significant (p > 0.05). In the group under study, the increase of the occurrence of parasitc infections does not seem to depend on the acquisiton of HIV through sexual contact. It appears that in developing countries, the dependancy is more related to the classic mechanisms of parasites transmission and its endemicity.

Toux sèche, douleurs thoraciques et dyspnée chez un patient atteint d'une polyarthrite rhumatoïde [Dry cough, chest pain and difficult breathing in a patient with rheumatoid arthritis]

Pulmonary involvement is the most frequent extra-articular manifestation of rheumatoid arthritis. The occurrence of a chronic hydro-pneumo-thorax associated with pulmonary nodules is rare. Cavitation of the most superficial nodules and their rupture into the pleural cavity are most likely involved in this complication. The presence of broncho-pleural fistulae may be responsible for the persistence of the phenomenon in our patient.

Patient and physician gender concordance in preventive care in university primary care settings.

OBJECTIVE: To assess the quality of preventive care according to physician and patient gender in a country with universal health care coverage. METHODS: We assessed a retrospective cohort study of 1001 randomly selected patients aged 50-80years followed over 2years (2005-2006) in 4 Swiss university primary care settings (Basel, Geneva, Lausanne, Zürich). We used indicators derived from RAND's Quality Assessment Tools and examined percentages of recommended preventive care. Results were adjusted using hierarchical multivariate logistic regression models. RESULTS: 1001 patients (44% women) were followed by 189 physicians (52% women). Female patients received less preventive care than male patients (65.2% vs. 72.1%, p<0.001). Female physicians provided significantly more preventive care than male physicians (p=0.01) to both female (66.7% vs. 63.6%) and male patients (73.4% vs. 70.7%). After multivariate adjustment, differences according to physician (p=0.02) and patient gender (p<0.001) remained statistically significant. Female physicians provided more recommended cancer screening than male physicians (78.4 vs. 71.9%, p=0.01). CONCLUSIONS: In Swiss university primary care settings, female patients receive less preventive care than male patients, with female physicians providing more preventive care than male physicians. Greater attention should be paid to female patients in preventive care and to why female physicians tend to provide better preventive care.

Clinician characteristics, communication, and patient outcome in oncology: a systematic review.

OBJECTIVE: The aim of this study was to review the literature on clinician characteristics influencing patient-clinician communication or patient outcome in oncology. METHODS: Studies investigating the association of clinician characteristics with quality of communication and with outcome for adult cancer patients were systematically searched in MEDLINE, PSYINFO, PUBMED, EMBASE, CINHAL, Web of Science and The Cochrane Library up to November 2012. We used the preferred reporting items for systematic reviews and meta-analyses statement to guide our review. Articles were extracted independently by two of the authors using predefined criteria. RESULTS: Twenty seven articles met the inclusion criteria. Clinician characteristics included a variety of sociodemographic, relational, and personal characteristics. A positive impact on quality of communication and/or patient outcome was reported for communication skills training, an external locus of control, empathy, a socioemotional approach, shared decision-making style, higher anxiety, and defensiveness. A negative impact was reported for increased level of fatigue and burnout and expression of worry. Professional experience of clinicians was not related to communication and/or to patient outcome, and divergent results were reported for clinician gender, age, stress, posture, and confidence or self-efficacy. CONCLUSIONS: Various clinician characteristics have different effects on quality of communication and/or patient outcome. Research is needed to investigate the pathways leading to effective communication between clinicians and patients. Copyright © 2013 John Wiley & Sons, Ltd.

Valproic acid related idiosyncratic drug induced hepatotoxicity in a glioblastoma patient treated with temozolomide.

Glioblastoma patients undergoing treatment with surgery followed by radiation and temozolomide chemotherapy often develop a state of immunosuppression and are at risk for opportunistic infections and reactivation of hepatitis and herpes viruses. We report the case of a 48-year-old glioblastoma patient who developed acute cholestatic hepatitis with hepatic failure during adjuvant treatment with temozolomide and the integrin inhibitor cilengitide. A viral hepatitis was excluded and valproic acid treatment was stopped. Upon normalisation of the liver tests, temozolomide treatment was resumed without perturbation of the liver tests. Valproic acid related idiosyncratic drug induced hepatotoxicity should be considered as a differential diagnosis in glioblastoma patients undergoing adjuvant therapy.