A importância da leitura orofacial no processo de adaptação de AASI

A leitura orofacial (LOF) é feita de forma inconsciente ao se comunicar e atualmente tem sido utilizado com freqüência na avaliação de deficientes auditivos. O deficiente auditivo é capaz de "ler" a posição dos lábios e captar os sons da fala de um locutor, porém é provável que até o melhor leitor labial só consiga entender 50% das palavras articuladas. METODOLOGIA: Foram avaliados 30 indivíduos de ambos os sexos, na faixa etária de 27 a 89 anos, portadores de deficiência auditiva bilateral sensorioneural moderada. A avaliação constou do teste de percepção de fala de palavras monossílabas em quatro situações: sem AASI e sem LOF, sem AASI e com LOF, com AASI e sem LOF, com AASI e com LOF. RESULTADOS: Observou-se uma melhora na porcentagem de acertos em 93,5% dos pacientes na situação com AASI e com LOF em relação às demais situações. CONCLUSÃO: A leitura dos lábios é uma importante estratégia de comunicação aos portadores de deficiência auditiva e sua recomendação auxilia o processo de adaptação de AASI.

Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft.

Objective : The main objective of this study was to assess mother-child patterns of interaction in relation to later quality of attachment in a group of children with an orofacial cleft compared with children without cleft. Design : Families were contacted when the child was 2 months old for a direct assessment of mother-child interaction and then at 12 months for a direct assessment of the child's attachment. Data concerning socioeconomical information and posttraumatic stress symptoms in mothers were collected at the first appointment. Participants : Forty families of children with a cleft and 45 families of children without cleft were included in the study. Families were recruited at birth in the University Hospital of Lausanne. Results : Results showed that children with a cleft were more difficult and less cooperative during interaction at 2 months of age with their mother compared with children without a cleft. No significant differences were found in mothers or in dyadic interactive styles. Concerning the child's attachment at 12 months old, no differences were found in attachment security. However, secure children with a cleft were significantly more avoidant with their mother during the reunion episodes than secure children without cleft. Conclusion : Despite the facial disfigurement and the stress engendered by treatment during the first months of the infant's life, children with cleft and their mothers are doing as well as families without cleft with regard to the mothers' mental health, mother-child relationships, and later quality of attachment. A potential contribution for this absence of difference may be the pluridisciplinary support that families of children with cleft benefit from in Lausanne.

Encoding dysfunctions in a dynamic-static paradigm for visuospatial working memory in first-episode psychosis patients: a 2-year follow-up study.

Aim: To investigate static and dynamic visuospatial working memory (VSWM) processes in first-episode psychosis (FEP) patients and explore the validity of such measures as specific trait markers of schizophrenia. Methods: Twenty FEP patients and 20 age-, sex-, laterality- and education-matched controls carried out a dynamic and static VSWM paradigm. At 2-year follow up 13 patients met Diagnostic and Statistical Manual (of Mental Health Disorders) - Fourth Edition (DSM-IV) criteria for schizophrenia, 1 for bipolar disorder, 1 for brief psychotic episode and 5 for schizotypal personality disorder. Results: Compared with controls, the 20 FEP patients showed severe impairment in the dynamic VSWM condition but much less impairment in the static condition. No specific bias in stimulus selection was detected in the two tasks. Two-year follow-up evaluations suggested poorer baseline scores on the dynamic task clearly differentiated the 13 FEP patients who developed schizophrenia from the seven who did not. Conclusions: Results suggest deficits in VSWM in FEP patients. Specific exploratory analyses further suggest that deficit in monitoring-manipulation VSWM processes, especially involved in our dynamic VSWM task, can be a reliable marker of schizophrenia.

Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations?

OBJECTIVE: To investigate whether first trimester exposure to lamotrigine (LTG) monotherapy is specifically associated with an increased risk of orofacial clefts (OCs) relative to other malformations, in response to a signal regarding increased OC risk. METHODS: Population-based case-control study with malformed controls based on EUROCAT congenital anomaly registers. The study population covered 3.9 million births from 19 registries 1995-2005. Registrations included congenital anomaly among livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis. Cases were 5,511 nonsyndromic OC registrations, of whom 4,571 were isolated, 1,969 were cleft palate (CP), and 1,532 were isolated CP. Controls were 80,052 nonchromosomal, non-OC registrations. We compared first trimester LTG and antiepileptic drug (AED) use vs nonepileptic non-AED use, for mono and polytherapy, adjusting for maternal age. An additional exploratory analysis compared the observed and expected distribution of malformation types associated with LTG use. RESULTS: There were 72 LTG exposed (40 mono- and 32 polytherapy) registrations. The ORs for LTG monotherapy vs no AED use were 0.67 (95% CI 0.10-2.34) for OC relative to other malformations, 0.80 (95% CI 0.11-2.85) for isolated OC, 0.79 (95% CI 0.03-4.35) for CP, and 1.01 (95% CI 0.03-5.57) for isolated CP. ORs for any AED use vs no AED use were 1.43 (95% CI 1.03-1.93) for OC, 1.21 (95% CI 0.82-1.72) for isolated OC, 2.37 (95% CI 1.54-3.43) for CP, and 1.86 (95% CI 1.07-2.94) for isolated CP. The distribution of other nonchromosomal malformation types with LTG exposure was similar to non-AED exposed. CONCLUSION: We find no evidence of a specific increased risk of isolated orofacial clefts relative to other malformations due to lamotrigine (LTG) monotherapy. Our study is not designed to assess whether there is a generalized increased risk of malformations with LTG exposure.

VAX1 mutation associated with microphthalmia, corpus callosum agenesis and orofacial clefting-the first description of a VAX1 phenotype in humans.

Vax1 and Vax2 have been implicated in eye development and the closure of the choroid fissure in mice and zebrafish. We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia. In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>A and c.454C>A, predicting p.Arg152Ser, in a proband of Egyptian origin with microphthalmia, small optic nerves, cleft lip/palate and corpus callosum agenesis. This mutation affects an invariant residue in the homeodomain of VAX1 and was absent from 96 Egyptian controls. It is likely that the mutation results in a loss of function, as the mutation results in a phenotype similar to the Vax1 homozygous null mouse. We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for anophthalmia/microphthalmia. ©2011 Wiley Periodicals, Inc.

Sexual dysfunctions among young men: prevalence and associated factors.

PURPOSE: The purposes of this study are to measure the prevalence of premature ejaculation (PE) and erectile dysfunction (ED) among a population of Swiss young men and to assess which factors are associated with these sexual dysfunctions in this age-group. METHODS: For each condition (PE and ED), we performed separate analyses comparing young men suffering from the condition with those who were not. Groups were compared for substance use (tobacco, alcohol, cannabis, other illegal drugs, and medication without a prescription), self-reported body mass index, sexual orientation, physical activity, professional activity, sexual experience (sexual life length and age at first intercourse), depression status, mental health, and physical health in a bivariate analysis. We then used a log-linear analysis to consider all significant variables simultaneously. RESULTS: Prevalence rates for PE and ED were 11% and 30%, respectively. Poor mental health was the only variable to have a direct association with both conditions after controlling for potential confounders. In addition, PE was directly associated with tobacco, illegal drugs, professional activity, and physical activity, whereas ED was directly linked with medication without a prescription, length of sexual life, and physical health. CONCLUSIONS: In Switzerland, one-third of young men suffer from at least one sexual dysfunction. Multiple health-compromising factors are associated with these dysfunctions. These should act as red flags for health professionals to encourage them to take any opportunity to talk about sexuality with their young male patients.

Orofacial dysfunction in Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) affects orofacial function. Our aim was to evaluate certain characteristics of orofacial function in DMD and relate possible deteriorations to the age of the patients and to the diminished internal structure quality of the masseter muscle. Bite force and finger force were measured in 16 DMD patients (6-20 years old) and 16 age matched controls. The thickness and internal structure quality of the masseter muscle were evaluated ultrasonographically. We found reduced mouth opening but no signs of masticatory muscle tenderness. Bite force values were lower for DMD patients. Masseter thickness showed no significant differences between the two groups, but poorer internal muscle structure quality characterised the elder, non-walking DMD patients explaining their low bite force values. In conclusion, the masseter muscle follows the general progress of the disease. Orofacial function in DMD patients is becoming ever more important as their life expectancy increases.

Identification of psychological dysfunctions and eating disorders in obese women seeking weight loss: cross-sectional study.

Objective. The aim of this study is to analyse associations between eating behaviour and psychological dysfunctions in treatment-seeking obese patients and identify parameters for the development of diagnostic tools with regard to eating and psychological disorders. Design and Methods. Cross-sectional data were analysed from 138 obese women. Bulimic Investigatory Test of Edinburgh and Eating Disorder Inventory-2 assessed eating behaviours. Beck Depression Inventory II, Spielberger State-Trait Anxiety Inventory, form Y, Rathus Assertiveness Schedule, and Marks and Mathews Fear Questionnaire assessed psychological profile. Results. 61% of patients showed moderate or major depressive symptoms and 77% showed symptoms of anxiety. Half of the participants presented with a low degree of assertiveness. No correlation was found between psychological profile and age or anthropometric measurements. The prevalence and severity of depression, anxiety, and assertiveness increased with the degree of eating disorders. The feeling of ineffectiveness explained a large degree of score variance. It explained 30 to 50% of the variability of assertiveness, phobias, anxiety, and depression. Conclusion. Psychological dysfunctions had a high prevalence and their severity is correlated with degree of eating disorders. The feeling of ineffectiveness constitutes the major predictor of the psychological profile and could open new ways to develop screening tools.

Hepatitis C virus-mediated mitochondrial dysfunctions are prevented and rescued by cyclophilin inhibition

Alisporivir (Debio-025) is an analogue of cyclosporine A andrepresents the prototype of a new class of non-immunosuppressivecyclophilin inhibitors. In vitro and in vivo studies have shownthat alisporivir inhibits hepatitis C virus (HCV) replication andongoing clinical trials are exploring its therapeutic potential inpatients with chronic hepatitis C. Recent data suggest that theantiviral effect is mediated by inhibition of cyclophilin A whichis an essential host factor in the HCV life cycle. However, alisporiviralso inhibits mitochondrial permeability transition by bindingto cyclophilin D. As HCV is known to affect mitochondrialfunction, we explored the effect of alisporivir on HCV proteinmediatedmitochondrial dysfunction. By the use of inducible celllines, which allow to investigate the effects of HCV polyproteinexpression independent from viral RNA replication and whichrecapitulate the major alterations of mitochondrial bioenergeticsobserved in infectious cell systems, we show that alisporivir preventsHCV protein-mediated cytochrome c redistribution,decrease of cell respiration, collapse of mitochondrial membranepotential, overproduction of reactive oxygen species and mitochondrialcalcium overload. Strikingly, some of the HCV-mediatedmitochondrial dysfunctions could even be rescued byalisporivir. These observations provide new insights into thepathogenesis of HCV-related liver disease and reveal an additionalmechanism of action of alisporivir that is likely beneficialin the treatment of chronic hepatitis C.

Parametrial adipose tissue and metabolic dysfunctions induced by fructose-rich diet in normal and neonatal-androgenized adult female rats.

Hyperandrogenemia predisposes an organism toward developing impaired insulin sensitivity. The aim of our study was to evaluate endocrine and metabolic effects during early allostasis induced by a fructose-rich diet (FRD) in normal (control; CT) and neonatal-androgenized (testosterone propionate; TP) female adult rats. CT and TP rats were fed either a normal diet (ND) or an FRD for 3 weeks immediately before the day of study, which was at age 100 days. Energy intake, body weight (BW), parametrial (PM) fat characteristics, and endocrine/metabolic biomarkers were then evaluated. Daily energy intake was similar in CT and TP rats regardless of the differences in diet. When compared with CT-ND rats, the TP-ND rats were heavier, had larger PM fat, and were characterized by basal hypoadiponectinemia and enhanced plasma levels of non-esterified fatty acid (NEFA), plasminogen activator inhibitor-1 (PAI-1), and leptin. FRD-fed CT rats, when compared with CT-ND rats, had high plasma levels of NEFA, triglyceride (TG), PAI-1, leptin, and adiponectin. The TP-FRD rats, when compared with TP-ND rats, displayed enhanced leptinemia and triglyceridemia, and were hyperinsulinemic, with glucose intolerance. The PM fat taken from TP rats displayed increase in the size of adipocytes, decrease in adiponectin (protein/gene), and a greater abundance of the leptin gene. PM adipocyte response to insulin was impaired in CT-FRD, TP-ND, and TP-FRD rats. A very short duration of isocaloric FRD intake in TP rats induced severe metabolic dysfunction at the reproductive age. Our study supports the hypothesis that the early-androgenized female rat phenotype is highly susceptible to developing endocrine/metabolic dysfunction. In turn, these abnormalities enhance the risk of metabolic syndrome, obesity, type 2 diabetes, and cardiovascular disease.

Role for JIP-1/IB1 in pancreatic β-cell and adipocyte dysfunctions in type 2 diabetes and obesity

L'insuline, produite par les cellules β du pancréas, joue un rôle central dans le contrôle de la glycémie. Un manque d'insuline entraine le diabète de type 2, une maladie répandue au stade d'épidémie au niveau mondial. L'augmentation du nombre de personnes obèses est une des causes principales du développement de la maladie. Avec l'obésité les tissus tels que le foie, le muscle, et le tissu adipeux deviennent résistants à l'insuline. En général, cette résistance est équilibrée par une augmentation de la sécrétion d'insuline. De ce fait, un grand nombre d'individus obèses ne deviennent pas diabétiques. Lorsque les cellules β ne produisent plus suffisamment d'insuline, alors le diabète se développe. Dans l'obésité, les cellules graisseuses sont résistantes à l'insuline et relâchent des lipides et autres produits qui affectent le bon fonctionnement et la vie des cellules β. «c-Jun Ν terminal Kinase» (JNK) est une enzyme qui joue un rôle important dans la résistance de l'insuline des cellules graisseuses. Cette même en2yme contribue aussi au déclin de la cellule β dans les conditions diabétogènes, et représente ainsi une cible thérapeutique potentielle du diabète. L'objectif de cette thèse a été de comprendre le mécanisme conduisant à l'activité de JNK dans les adipocytes et cellules β, dans l'obésité et le diabète de type 2. Nous montrons que les variations de JNK sont la conséquence de taux anormaux de JIP-1/EB1, une protéine qui a été impliquée dans certaines formes génétiques de diabète de type 2. En outre nous décrivons le mécanisme responsable des anomalies de JIP1/IB1 dans les adipocytes et cellules β. La restauration des taux de JIP-1/EB1 dans les deux types cellulaires pourrait être un objectif des thérapeutiques antidiabétiques actuelles et futures. - Le nombre d'individus touchés par le diabète de type 2 atteint aujourd'hui des proportions épidémiques à l'échelle mondiale. L'augmentation de la prévalence de l'obésité est la cause principale du développement de la maladie, qui, en général, survient suite à une perte de la sensibilité à l'insuline des tissus périphériques. Dans un grand nombre des cas, l'insulino-résistance est compensée par une augmentation de la sécrétion de l'insuline par les cellules β pancréatiques. Le diabète apparaît lorsque l'insuline n'est plus produite en quantité suffisante pour contrecarrer la résistance à l'insuline des tissus. Le défaut de production de l'insuline résulte du dysfonctionnement et de la réduction massive des cellules β. Les acides gras libres non estérifiés, en particulier le palmitate, provenant d'une alimentation riche en lipides et libérés par les adipocytes insulino-résistants contribuent au déclin de la cellule β en activant la voie de signalisation «cJun N-terminal kinase» (JNK). L'activation de JNK contribue aussi à la résistance à l'insuline des adipocytes dans l'obésité, soulignant ainsi l'importance de cette voie de signalisation dans la pathophysiologie du diabète. L'objectif de cette thèse a été de comprendre les mécanismes qui régulent JNK dans les cellules β et les adipocytes. Nous montrons que l'activation de JNK dans ces deux types cellulaires est la conséquence de la variation des taux de «JNK interacting protein 1» appelé aussi «islet brain 1» (JEP-1/ΓΒΙ), une protéine qui attache les kinases de la signalisation de JNK et dont des variations génétiques ont été associées avec le diabète de type 2. Dans les cellules β cultivées avec du palmitate, ainsi que dans les adipocytes dans l'obésité, l'expression de JEP-l/BBl est modifiée. Les modulations de l'expression de JEP-1/ΓΒΙ sont réalisées par le facteur de transcription «inducible cAMP early repressor» (ICER). L'expression d'ICER dans les adipocytes est diminuée dans l'obésité, et corrèle avec l'augmentation des niveaux de JEP-1/IB1. A l'inverse, le niveau d'expression d'ICER est augmenté dans les cellules β cultivées avec du palmitate, et cette augmentation perturbe le bon fonctionnement des cellules en réduisant les niveaux de JEP-l/IBl. Comme le palmitate, les particules pro-athérogéniques LDL-cholesterol oxydés, sont élevées chez les personnes obèses et diabétiques et sont délétères aux cellules β. Ces particules modifiées activent JNK dans les cellules β en diminuant l'expression de JIP-1/IB1 via ICER. Tous ces résultats montrent que le dérèglement de l'expression de JIP-l/EBl par ICER joue un rôle central dans l'activation de JNK dans les adipocytes et cellules β en souffrance dans l'obésité et le diabète de type 2. La restauration appropriée des niveaux de JEPl/IBl et d'ICER pourrait être considérée comme un objectif pour mesurer l'efficacité des traitements antidiabétiques actuels et futurs. - Type 2 diabetes has reached epidemic proportions worldwide, and poses a major socio-economic burden on developed and developing societies. The disease is often accompanied by obesity, and arises when β-cells produce insufficient insulin to meet the increased hormone demand, caused by insulin resistance. In obesity, enlargement of adipocytes contribute to their dysfunction, which is characterized by the abnormal release of some bioactive products such as non-esterified free fatty acids (NEF As). Chronic plasma elevation of NEF As elicits β-cell dysfunction and death, thereby, representing a key feature for development of diabetes in obesity (diabesity). Palmitate is the most abundant circulating NEF As in obesity, which triggers adipocytes and β-cell dysfunction. The effects of palmitate rely on the induction of the cJun N-terminal kinase (JNK) pathway. Activation of JNK promotes both β-cells dysfunction and insulin resistance in adipocytes. This thesis was undertaken to investigate the mechanisms accounting for the induction of the JNK pathway caused by palmitate. JNK is regulated by the scaffold protein JNK interacting protein-1, also called islet brain 1 (JIP-1/IB1). The levels of JDM/IB1 are critical for glucose homeostasis, as genetic variations within the gene were associated with diabetes. We found that activation of JNK in both, β-cells exposed to palmitate, and in adipocytes of obese mice, results from variations in the expression of JIP-l/EBl. Modifications in the JIP-1/IB1 levels were the consequence of abnormal expression of the inducible cAMP early repressor (ICER) in the two cell types. In addition, our data show that this repressor plays a key role in abnormal production of adipocyte hormones and β-cell dysfunction evoked by the pro-atherogenic oxidized LDL. Taken together, this study proposes that fine-tuning of appropriate levels of JIP-l/EBl, and ICER could circumvent β-cell failure, adipocyte dysfunction, and thereby, development of diabesity.

Brain dysfunctions, psychopathologies, and body image distortions

The major features in eating disorders are a preoccupation with food and its consumption and body dissatisfaction. Diagnostic manuals provide clusters of criteria according to which affected individuals can be categorized into one or other group of eating disorder. Yet, when considering the high proportion of comorbidities and ignoring the content of the symptoms (food, body), the major features seem to yield obsessional-compulsive, addictive, and impulsive qualities. In the present article, we review studies from the neuroscientific literature (mainly lesion studies) on eating disorder, obsessive-compulsive disorder, impulse control disorder, and addiction to investigate the possibility of a wider phenotype that can be related to a common brain network. The literature localizes this network to the right frontal lobe and its connectivities. This network, when dysfunctional, might result in a behavior that favors the preoccupation with particular thoughts, behaviors, anxieties, and uncontrollable urges that are accompanied by little scope for ongoing behavioral adjustments (e.g., impulse control). We reason that this network may turn out to be equally involved in understudied mental conditions of dysfunctional body processing such as muscle dysmorphia, body dysmorphic disorder (including esthetic surgery), and xelomelia. We finally consider previous notions of a wider phenotype approach to current diagnostic practice (using DSM), such as the possibility of a model with a reduced number of diagnostic categories and primary and secondary factors, and to etiological models of mental health conditions.

Orofacial pain of cardiac origin: review literature and clinical cases

The most common types of orofacial pain originate at the dental or periodontal level or in the musculoskeletal structures. However, the patient may present pain in this region even though the source is located elsewhere in the body. One possible source of heterotopic pain is of cardiac origin. Objectives: Report two cases of orofacial pain of cardiac origin and review the clinical cases described in the literature. Study Design: Description of clinical cases and review of clinical cases. Results and conclusions: Nine cases of atypical pain of cardiac origin are recorded, which include 5 females and 4 males. In craniofacial structures, pain of cardiac origin is usually bilateral. At the craniofacial level, the most frequent location described is in the throat and jaw. Pain of cardiac origin is considered atypical due to its location, although roughly 10% of the cases of cardiac ischemia manifest primarily in craniofacial structures. Finally, the differential diagnosis of pain of odontogenic origin must be taken into account with pain of non-odontogenic origin (muscle, psychogenic, neuronal, cardiac, sinus and neurovascular pain) in order to avoid diagnostic errors in the dental practice as well as unnecessary treatments.