À l'écoute des patients : la bédé en sciences de la santé

Présentation de la collection de romans graphiques médicaux (graphic medicine) de la Bibliothèque de la santé de l'Université de Montréal

Les variations du développement sexuel: «La différence au grand jour»

Contexte : Hermaphrodisme, pseudohermaphrodisme, intersexe ou encore troubles du développement du sexe (Disorders of Sex Development) : autant de termes désignant des pathologies concernant une proportion non-négligeable de la population. Dans une société où le développement génital et l'identité sexuelle sont à la fois tabous et mal connus, le corps médical a un rôle clé à jouer dans la prise en charge à long terme ainsi que dans le soutien des patients intersexués et de leur entourage proche. Cette prise en charge commence par une information complète et transparente des parents et des enfants touchés. Objectifs : Elaborer un document capable de décrire de la manière la plus complète et compréhensible possible le thème de l'intersexualité. Il sera à la fois basé sur les connaissances médicales actuelles, mais également sur les témoignages de patients, parents et groupes de soutien aux intersexes. Il sera finalement destiné à l'information des parents ainsi que de leurs enfants intersexués à différentes étapes de leur développement. Méthode : Une compréhension approfondie de la thématique de l'intersexualité sur le plan médical, impliquant une approche multidisciplinaire, est une première étape cruciale. Agrémentée de témoignages de patients, de parents et des divers groupes de soutient actifs sur ce sujet, nous obtiendrons les bases nécessaires pour concevoir un document d'information à la fois le plus complet et le plus proche possible des attentes des patients et des parents. Résultat escompté : Répondre aux attentes formulées par les différents acteurs de la thématique de l'intersexualité et ainsi promouvoir une meilleure compréhension des mécanismes et des enjeux qui la caractérisent. Obtenir un feedback positif des groupes de soutien aux intersexes sur la qualité de l'information donnée dans ce document.

Les discordances du moi : une lecture critique du débat philosophique contemporain sur l'identité personnelle au regard de la transplantation d'organes

La présente recherche analyse le concept mental d'identité personnelle et en propose une interprétation critique, qui se développe à partir des cas de troubles psychologiques se manifestant chez certains patients transplantés. Nous pensons que l'étude de ces cas offre la possibilité de repenser, et par là critiquer, certains présupposés qui conditionnent le débat philosophique contemporain sur l'identité personnelle de matrice essentiellement analytique. Nous proposons de ce concept mental une interprétation inusuelle, reposant sur une certaine compréhension de l'être (humain), que nous caractérisons par la formule «identité personnelle transductive ». Cette expression véhicule l'idée d'une «ontologie autre » ; autre que l'ontologie classique qui pense l'être comme déterminité, à l'instar d'un individu substantiel, stable et persistant. Nous nous éloignons ainsi de la conception de la déterminité telle qu'elle se développe depuis l'Antiquité grecque, parce que nous croyons que le changement ou le devenir réside dans la nature des choses. Nous avons ainsi essayé de présenter une interprétation de l'être différente, en empruntant à Gilbert Simondon la notion de « transductivité » -dans le sens d'« individuation en progrès »que cet auteur lui attribue. En comparant les témoignages des patients transplantés avec les cas imaginaires de transplantation de cerveau qui dominent les discussions philosophiques, nous avons montré la nécessité de refonder l'ontologie sur laquelle reposent les théories contemporaines de l'identité personnelle. Cette tentative répond à l'exigence de résoudre et tempérer les apories qui se font jour au sein des conceptions déterministes de la personne -soient-elles réductionnistes (à l'instar des partisans du critère de continuité psychologique et physique) ou non réductionnistes (à l'instar des conceptions simples ou Théories de l'ego basées sur une approche à la première personne, où la personne, comprise comme persistance substantielle d'un sujet, se fonde d'elle-même). Au coeur de notre démarche se trouve la notion d'« image du corps », véritable outil d'unification épistémologique et de renouvellement ontologique. Cette notion s'est révélée extrêmement utile non seulement pour comprendre et démêler les composantes qui interviennent dans le surgissement des troubles psychologiques lors des transplantations d'organes, ainsi que la variabilité des réactions individuelles, mais aussi, plus fondamentalement, pour rendre manifeste l'opération de «transduction perpétuée »qui est à la base de l'ontogenèse de l'être humain en tant que personne, donc du moi. La notion d'image du corps nous a donc permis de mettre en évidence ce que l'expérience de la transplantation d'organes bien comprise pourrait ou devrait apporter à la théorie de l'identité personnelle. C'est ainsi que, par approximation, s'est précisée l'idée d'une identité personnelle transductive, où le moi (la personne), étant interprété comme l'aspect subjectif d'une opération d'«individuation perpétuée », se donne sous le signe de la discordance.

Graphic medicine from library to classroom

Introduction. Graphic medicine is defined as the use of comics in health sciences education and patient care. Graphic stories about personal experiences of illness from patients and their families can be used to illustrate distress, empathy and collaboration between family members and health professionals and thus give students a broader experience of disease. We present a collection of graphic novels and outline collaboration with professors from various faculties in order to use comics as teaching material in health sciences. Method. The university has health sciences faculties of Nursing, Medicine, Pharmacy, Dentistry, Veterinary Medicine and schools of Public Health, Optometry and Kinesiology. The Health Library is offering its patrons a collection of 40 comics mainly on the theme of patient and family illness experience. An ongoing survey gathers feedback from users; results will help us promote the collection. A librarian is working with professors from the facultiesof Nursing, Medicine and Pharmacy in order to integrate comics’ excerpts into e-learning modules for three health and social services interprofessional courses reaching more than 1000 students annually. Other courses teaching empathy and partnership with patients will be identified and professors will be approached to raise awareness of the collection’s potential as teaching material. Results. The collection has been available to patrons since October 2012. Survey responses collected so far are very positive and titles are regularly borrowed. The collection has been added as suggested reading in a physiotherapy course outline. Discussion. The comics’ collection is already widely used by our patrons. Steps are being taken to integrate the collection into more health sciences courses and thus define graphic medicine as teaching material in health sciences education at the university.

Egfr Activating Mutations And Their Association With Response To Platinum-doublet Chemotherapy In Brazilian Non-small Cell Lung Cancer Patients.

The aim of the study was to analyze the frequency of epidermal growth factor receptor (EGFR) mutations in Brazilian non-small cell lung cancer patients and to correlate these mutations with response to benefit of platinum-based chemotherapy in non-small cell lung cancer (NSCLC). Our cohort consisted of prospective patients with NSCLCs who received chemotherapy (platinum derivates plus paclitaxel) at the [UNICAMP], Brazil. EGFR exons 18-21 were analyzed in tumor-derived DNA. Fifty patients were included in the study (25 with adenocarcinoma). EGFR mutations were identified in 6/50 (12 %) NSCLCs and in 6/25 (24 %) adenocarcinomas; representing the frequency of EGFR mutations in a mostly self-reported White (82.0 %) southeastern Brazilian population of NSCLCs. Patients with NSCLCs harboring EGFR exon 19 deletions or the exon 21 L858R mutation were found to have a higher chance of response to platinum-paclitaxel (OR 9.67 [95 % CI 1.03-90.41], p = 0.047). We report the frequency of EGFR activating mutations in a typical southeastern Brazilian population with NSCLC, which are similar to that of other countries with Western European ethnicity. EGFR mutations seem to be predictive of a response to platinum-paclitaxel, and additional studies are needed to confirm or refute this relationship.

An Efficient Protocol For The Generation Of Monocyte Derived Dendritic Cells Using Serum-free Media For Clinical Applications In Post Remission Aml Patients.

Protocols for the generation of dendritic cells (DCs) using serum as a supplementation of culture media leads to reactions due to animal proteins and disease transmissions. Several types of serum-free media (SFM), based on good manufacture practices (GMP), have recently been used and seem to be a viable option. The aim of this study was to evaluate the results of the differentiation, maturation, and function of DCs from Acute Myeloid Leukemia patients (AML), generated in SFM and medium supplemented with autologous serum (AS). DCs were analyzed by phenotype characteristics, viability, and functionality. The results showed the possibility of generating viable DCs in all the conditions tested. In patients, the X-VIVO 15 medium was more efficient than the other media tested in the generation of DCs producing IL-12p70 (p=0.05). Moreover, the presence of AS led to a significant increase of IL-10 by DCs as compared with CellGro (p=0.05) and X-Vivo15 (p=0.05) media, both in patients and donors. We concluded that SFM was efficient in the production of DCs for immunotherapy in AML patients. However, the use of AS appears to interfere with the functional capacity of the generated DCs.

Is Thyroid Stunning Clinically Relevant? A Retrospective Analysis Of 208 Patients.

Current guidelines have advised against the performance of (131)I-iodide diagnostic whole body scintigraphy (dxWBS) to minimize the occurrence of stunning, and to guarantee the efficiency of radioiodine therapy (RIT). The aim of the study was to evaluate the impact of stunning on the efficacy of RIT and disease outcome. This retrospective analysis included 208 patients with differentiated thyroid cancer managed according to a same protocol and followed up for 12-159 months (mean 30 ± 69 months). Patients received RIT in doses ranging from 3,700 to 11,100 MBq (100 mCi to 300 mCi). Post-RIT-whole body scintigraphy images were performed 10 days after RIT in all patients. In addition, images were also performed 24-48 hours after therapy in 22 patients. Outcome was classified as no evidence of disease (NED), stable disease (SD) and progressive disease (PD). Thyroid stunning occurred in 40 patients (19.2%), including 26 patients with NED and 14 patients with SD. A multivariate analysis showed no association between disease outcome and the occurrence of stunning (p = 0.3476). The efficacy of RIT and disease outcome do not seem to be related to thyroid stunning.

Hepatic Involvement In Paediatric Patients With Paracoccidioidomycosis: A Histological Study.

Paracoccidioidomycosis is a systemic mycosis that is endemic to certain countries in Latin America. This study aimed to describe the histological features of liver involvement in patients with paracoccidioidomycosis aged <16 years of age who were treated between 1980 and 2010, with a diagnosis that was confirmed by detection of the fungus by pathological examination. Liver tissue was obtained from one necropsy and 12 biopsies. Throughout 2007, biopsies were taken from patients with persistent jaundice or portal hypertension, after which biopsies became indicated due to elevated aminotransferase and low albumin levels. Using haematoxylin and eosin (H&E), Masson's trichrome and immunohistochemical (CK7 and CK19) staining, we noted degenerative alterations in bile duct cells and inflammatory injury to the bile ducts in 10 biopsies. Using immunohistochemistry for CK7 and CK19, we observed ductal proliferation in all 12 samples. Bile duct injuries by inflammatory cells might explain the predominant increase in canalicular enzymes; immunohistochemistry is more sensitive in demonstrating ductular reactions and might show changes that are not apparent on H&E staining.

Up-regulation Of Dnam-1 And Nkp30, Associated With Improvement Of Nk Cells Activation After Long-term Culture Of Mononuclear Cells From Patients With Ovarian Neoplasia.

This study aimed at evaluating the functional activation and activating receptors expression on resting, short- and long-term NK and NK-like T cells from blood of ovarian neoplasia patients. Blood from patients with adnexal benign alterations (n = 10) and ovarian cancer (grade I-IV n = 14) were collected after signed consent. Effector cells activation was evaluated by the expression of the CD107a molecule. Short-term culture was conducted overnight with IL-2 and long-term culture for 21 days, by a method designed to expand CD56(+) lymphocytes. Short-term culture significantly increased NK cells activation compared to resting NK cells (p<0.05), however, the long-term procedure supported an even higher increase (p<0.001). Resting NK-like T cells showed poor activation, which was not altered by the culture procedures. The long-term culture effectively increased the expression of the activating receptors on NK and NK-like T cells, either by increasing the number of cells expressing a given receptor and/or by up-regulating their expression intensity. As a conclusion, the long-term culture system employed, resulted in a high number of functional NK cells. The culture system was particularly efficient on the up-regulation of NKp30 and DNAM-1 receptors on NK cells.

Defective Apoptosis In Intestinal And Mesenteric Adipose Tissue Of Crohn's Disease Patients.

Crohn's disease (CD) is associated with complex pathogenic pathways involving defects in apoptosis mechanisms. Recently, mesenteric adipose tissue (MAT) has been associated with CD ethiopathology, since adipose thickening is detected close to the affected intestinal area. However, the potential role of altered apoptosis in MAT of CD has not been addressed. To evaluate apoptosis in the intestinal mucosa and MAT of patients with CD. Samples of intestinal mucosa and MAT from patients with ileocecal CD and from non-inflammatory bowel diseases patients (controls) were studied. Apoptosis was assessed by TUNEL assay and correlated with the adipocytes histological morphometric analysis. The transcriptional and protein analysis of selected genes and proteins related to apoptosis were determined. TUNEL assay showed fewer apoptotic cells in CD, when compared to the control groups, both in the intestinal mucosa and in MAT. In addition, the number of apoptotic cells (TUNEL) correlated significantly with the area and perimeter of the adipose cells in MAT. Transcriptomic and proteomic analysis reveal a significantly lower transcript and protein levels of Bax in the intestinal mucosa of CD, compared to the controls; low protein levels of Bax were found localized in the lamina propria and not in the epithelium of this tissue. Furthermore, higher level of Bcl-2 and low level of Caspase 3 were seen in the MAT of CD patients. The defective apoptosis in MAT may explain the singular morphological characteristics of this tissue in CD, which may be implicated in the pathophysiology of the disease.

Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of the IDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (<22 bp) and point mutations were identified in 83/103 (88%) patients, including 30 novel mutations; except for a higher frequency of small duplications in relation to small deletions, the frequencies of major and minor alterations found in our sample are in accordance with those described in the literature.

Can We Predict The Clinical Outcomes Of Genitourinary Trauma Patients And Offer Them An Evidence-based Support? The Case For Telemedicine Network.

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Identification Of Target Genes Using Gene Expression Profile Of Granulocytes From Patients With Chronic Myeloid Leukemia Treated With Tyrosine Kinase Inhibitors.

Differential gene expression analysis by suppression subtractive hybridization with correlation to the metabolic pathways involved in chronic myeloid leukemia (CML) may provide a new insight into the pathogenesis of CML. Among the overexpressed genes found in CML at diagnosis are SEPT5, RUNX1, MIER1, KPNA6 and FLT3, while PAN3, TOB1 and ITCH were decreased when compared to healthy volunteers. Some genes were identified and involved in CML for the first time, including TOB1, which showed a low expression in patients with CML during tyrosine kinase inhibitor treatment with no complete cytogenetic response. In agreement, reduced expression of TOB1 was also observed in resistant patients with CML compared to responsive patients. This might be related to the deregulation of apoptosis and the signaling pathway leading to resistance. Most of the identified genes were related to the regulation of nuclear factor κB (NF-κB), AKT, interferon and interleukin-4 (IL-4) in healthy cells. The results of this study combined with literature data show specific gene pathways that might be explored as markers to assess the evolution and prognosis of CML as well as identify new therapeutic targets.

[the Use Of Fish On Buccal Smear To Investigate Mosaicism With A 45,x Cell Line: Study On Healthy Men And Patients With Disorders Of Sex Development].

To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients. Samples of nineteen 46,XY healthy young men and five patients with disorders of sex development (DSD), four 45,X/46,XY and one 46,XY were used. FISH analysis with X and Y specific probes on interphase nuclei from blood lymphocytes and buccal epithelium were analyzed to investigate the proportion of nuclei containing only the signal of the X chromosome. The frequency of nuclei containing only the X signal in the two tissues of healthy men did not differ (p = 0.69). In all patients with DSD this frequency was significantly higher, and there was no difference between the two tissues (p = 0.38), either. Investigation of mosaicism with a 45,X cell line in patients with 46,XY DSD or sterility can be done by FISH directly using cells from the buccal epithelium.

Laparoscopic Antireflux Surgery In Patients With Extra Esophageal Symptoms Related To Asthma.

Asthma, laryngitis and chronic cough are atypical symptoms of the gastroesophageal reflux disease. To analyze the efficacy of laparoscopic surgery in the remission of extra-esophageal symptoms in patients with gastroesophageal reflux, related to asthma. Were reviewed the medical records of 400 patients with gastroesophageal reflux disease submitted to laparoscopic Nissen fundoplication from 1994 to 2006, and identified 30 patients with extra-esophageal symptoms related to asthma. The variables considered were: gender, age, gastroesophageal symptoms (heartburn, acid reflux and dysphagia), time of reflux disease, treatment with proton pump inhibitor, use of specific medications, treatment and evolution, number of attacks and degree of esophagitis. Data were subjected to statistical analysis, comparing the pre- and post-surgical findings. The comparative analysis before surgery (T1) and six months after surgery (T2) showed a significant reduction on heartburn and reflux symptoms. Apart from that, there was a significant difference between the patients with daily crises of asthma (T1 versus T2, 45.83% to 16.67%, p=0.0002) and continuous crises (T1, 41.67% versus T2, 8.33%, p=0.0002). Laparoscopic Nissen fundoplication was effective in improving symptoms that are typical of reflux disease and clinical manifestations of asthma.