Hyperprolinemia as a clue in the diagnosis of a patient with a psychiatric disorder

Background: Over the last few years, microdeletions of the 22q11.2 region responsible for DiGeorge syndrome, or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorders. These signs seem to be related to certain genes located in the hemideleted region as the proline dehydrogenase (PRODH) and the catecholo-methyltransferase (COMT) genes. The PRODH or proline oxidase deficiency is responsible for hyperprolinemia type 1 (HPI) also causing psychiatric manifestations. Case Report: We describe a 17 year old boy with previous mild psychomotor and speech delay, mild cognitive impairment, and obsessive behaviours who started his adolescent psychiatric care presenting irritablemood and aggressive behaviour with schizophrenia symptoms that scored a “severely ill” level PANSS assessment. Symptoms got worse when he was treated with valproic acid and plasma aminoacids showing increase in alanine and proline, suggested a mitochondrial involvement of the proline metabolic pathway. Results: Mild dysmorphia suggested a possible 22q11.2 deletion genetically confirmed involving both the PRODH and COMT regions. HPI that can present with psychiatric features is however a recessive disorder and therefore the symptoms could not be solely explained by this genetic deletion. Additional investigations also showed disclosed a p.L289m (c.1865 T > A) mutation in the PRODH gene. Discussion: We believe that the association of this mutation together with the 22q11.2 deletion would lead to a decrease of functional protein. Although it may be difficult to diagnosis chromosomal abnormalities in patients with no clear malformations and mild dysmorphic features as in this patient we emphasize need to investigate the aetiology in patients with psychiatric symptoms, especially if they have other systemic manifestations such as developmental delay or psychotic symptoms, as it may be important in the management of the patients.

Le rôle des réponses cardiovasculaires et respiratoires sur la cognition chez les jeunes et les ainés sains

En plus de contribuer à améliorer la santé de façon générale, l’activité physique chronique pourrait modérer le déclin cognitif associé au vieillissement normal et pathologique (Colcombe et Kramer, 2003; Heyn et al., 2004). Plus précisément, la pratique à long terme d’activités cardiovasculaires aurait des effets positifs sur la cognition des ainés et plus particulièrement sur le contrôle attentionnel, un aspect précocement touché au cours du vieillissement (Raz, 2000; Bherer et al., 2008). Toutefois, les mécanismes par lesquels l’exercice physique aigu améliore la cognition demeurent limités. Malgré ses nombreuses implications théoriques et pratiques, la réponse aiguë de l’oxygénation cérébrale à l’exercice physique et sa relation avec la cognition sont trop peu étudiées. Cette thèse se consacre à cette question. Des études récentes en neuro-imagerie chez les jeunes adultes démontrent que la relation entre l’oxygénation cérébrale et l’intensité de l’exercice suit la forme d’un U inversé. Il existe un seuil au-delà duquel l’oxygénation cérébrale diminue avec l’augmentation de l’intensité de l’exercice. Supposant que les performances cognitives dépendent de la disponibilité de l’oxygène cérébral, cette relation en U inversé devrait affecter les performances cognitives. Avant de préciser le rôle exact de l’oxygénation cérébrale sur les fonctions cognitives, nous avons d’abord examiné le temps nécessaire pour que l’oxygénation cérébrale atteigne un état stable et la durée pendant laquelle cette période stable peut être maintenue lors de paliers de sept minutes à une puissance sous-maximale (40%, 60% et 85% de la puissance aérobie maximale). Nos résultats soulignent l’existence d’une relation inverse entre la durée de l’état stable et l’intensité de l’exercice. Suite à cette vérification méthodologique, la prochaine étape a été de tester la possible relation entre l’oxygénation cérébrale, l’intensité de l’exercice et les performances cognitives, au cours du processus de vieillissement. Les résultats de ces études démontrent que la chute de l’oxygénation cérébrale observée lors des exercices de haute intensité est associée avec une diminution des performances cognitives. Les résultats de cette thèse corrigent l’écart existant dans la documentation entre l’exercice, les fonctions cognitives et les mécanismes neurophysiologiques.

Burnout em cuidadores formais de idosos

O Síndrome de Burnout é, na atualidade, uma das consequências mais marcantes do stress profissional, pelo que se revela importante a investigação acerca da mesma, sobretudo nos denominados grupos de risco, como é o caso dos cuidadores formais de idosos institucionalizados. Com o objetivo de estudar os níveis de Burnout nos colaboradores de uma estrutura residencial, desenhou-se um estudo descritivo, analítico de caráter transversal, com recurso à metodologia quantitativa, tendo-se estudado uma amostra de 37 colaboradores. Para tal, aplicou-se um questionário construído para o efeito e que incluía a escala de avaliação MBI-HSS (Maslach Burnout Inventory – Human Services Survey), que revela os níveis de Burnout através de três dimensões: a Exaustão Emocional, a Despersonalização e a Realização Pessoal. Os resultados obtidos na escala de Maslach Burnout Inventory (MBI), na amostra em estudo, indicam que, grande parte dos cuidadores foram classificados como possuindo níveis baixos de Burnout nas três dimensões: Exaustão Emocional, Despersonalização; e Realização Pessoal. Apesar disso, verificou-se que 16,2% dos participantes evidenciaram níveis moderados de Exaustão Emocional e 10,8% níveis altos na mesma dimensão; 16,2% apresentaram nível moderado de Despersonalização; 21,6% evidenciaram níveis moderados e 10,8% níveis altos de Realização Pessoal.

The links between head injury and homelessness: A qualitative study

Background and aims: Head injury (HI) is a cause of cognitive impairment within the homeless population (Hwang et al, 2008). One study reported that over a 30-year period, the prevalence of hospitalised HI was 5.4 times higher in the homeless than in the general population (McMillan et al, 2015). This study explores the perceptions of homeless adults who have sustained a HI and their views regarding the relevance of HI to their homeless status. Methods: Participants were seven homeless adults with a moderate or severe HI. They were asked to talk about their journey to homelessness and in particular, to reflect on any perceived links between HI and their homeless status. The data were analysed using Interpretative Phenomenological Analysis (IPA). Results and conclusions: Emerging themes included: impairment following HI; substance misuse, feeling let down by services and difficult relationships with family. Evidence for the role of HI in precipitating and maintaining homelessness was found. Despite this, co-morbid difficulties complicate the picture. Four out of seven participants viewed substance misuse as their primary difficulty. This illustrates the need for in-depth assessment within this population in order to ensure that difficulties are fully understood and that the correct supports/ interventions are offered.

Prosocial behavior and self-concept of Spanish students of Compulsory Secondary Education

This study analyzed the relationship between prosocial behavior and self-concept dimensions in a sample of 2022 Spanish students (51.1% males) of Compulsory Secondary Education. The prosocial behavior was measured with the Prosocial Behavior scale of the Teenage Inventory of Social Skills (TISS) and the self-concept was measured with the Self-Description Questionnaire-II (SDQ-II). Logistic regression analyses revealed that prosocial behavior is a positive and significant statistically predictor of high scores on the following self-concept dimensions: physical ability, parent relations, same-sex relations, opposite-sex relations, verbal, school, trustworthiness, and self-esteem. Those results were found in males, females and every Compulsory Secondary education year. However, prosocial behavior is not a significant statistically predictor of high scores on physical appearance, math, and emotional stability.

Lower limb and associated injuries in frontal-impact road traffic collisions.

Objectives: To study the relationship between severity of injury of the lower limb and severity of injury of the head, thoracic, and abdominal regions in frontal-impact road traffic collisions. Methods: Consecutive hospitalised trauma patients who were involved in a frontal road traffic collision were prospectively studied over 18 months. Patients with at least one Abbreviated Injury Scale (AIS) ≥3 or AIS 2 injuries within two AIS body regions were included. Patients were divided into two groups depending on the severity of injury to the head, chest or abdomen. Low severity group had an AIS < 2 and high severity group had an AIS ≥ 2. Backward likelihood logistic regression models were used to define significant factors affecting the severity of head, chest or abdominal injuries. Results: Eighty-five patients were studied. The backward likelihood logistic regression model defining independent factors affecting severity of head injuries was highly significant (p=0.01, nagelkerke r square = 0.1) severity of lower limb injuries was the only significant factor (p=0.013) having a negative correlation with head injury (Odds ratio of 0.64 (95% CI: 0.45-0.91). Conclusion: Occupants who sustain a greater severity of injury to the lower limb in a frontal-impact collision are likely to be spared from a greater severity of head injury.

Influence des traits et troubles de personnalité sur l’intégration au travail de personnes aux prises avec un trouble mental grave

Bien que le travail soit bénéfique et souhaité par une majorité de personnes aux prises avec un trouble mental grave (TMG), les études réalisées auprès de cette clientèle montrent des taux d’emploi d’environ 10 à 20%. Parmi les services visant le retour au travail, les programmes de soutien à l’emploi (PSE) se sont montrés les plus efficaces avec des taux de placement en emploi standard oscillant entre 50 et 60%, sans toutefois garantir le maintien en emploi. Plusieurs études ont tenté de cerner les déterminants de l’obtention et du maintien en emploi chez cette population sans toutefois s’intéresser à la personnalité, et ce, bien qu’elle soit reconnue depuis toujours comme un déterminant important du fonctionnement des individus. De plus, peu de questionnaires d’évaluation de la personnalité selon le modèle de la personnalité en cinq facteurs (FFM) ont été utilisés auprès d’une clientèle avec un TMG et ceux-ci ont montré des propriétés psychométriques ne respectant pas des normes reconnues et acceptées. Cette thèse porte sur les liens entre la personnalité et l’intégration au travail chez les personnes avec un TMG. La première partie vise la validation d’un outil de mesure de la personnalité selon le FFM afin de répondre aux objectifs de la deuxième partie de la thèse. À cet effet, deux échantillons ont été recrutés, soit 259 étudiants universitaires et 141 personnes avec un TMG. Des analyses factorielles confirmatoires ont mené au développement d’un nouveau questionnaire à 15 items (NEO-15) dont les indices d’ajustement, de cohérence interne et de validité convergente respectent les normes établies, ce qui en fait un questionnaire bien adapté à la mesure de la personnalité normale dans des contextes où le temps d’évaluation est limité. La deuxième partie présente les résultats d’une étude réalisée auprès de 82 personnes aux prises avec un TMG inscrites dans un PSE et visant à identifier les facteurs d’obtention et de maintien en emploi chez cette clientèle, particulièrement en ce qui concerne la contribution des éléments normaux et pathologiques de la personnalité. Les résultats de régressions logistiques et de régressions de Cox (analyses de survie) ont démontré que l’historique d’emploi, les symptômes négatifs et le niveau de pathologie de la personnalité étaient prédictifs de l’obtention d’un emploi standard et du délai avant l’obtention d’un tel emploi. Une autre série de régressions de Cox a pour sa part démontré que l’esprit consciencieux était le seul prédicteur significatif du maintien en emploi. Malgré certaines limites, particulièrement des tailles d’échantillons restreintes, ces résultats démontrent la pertinence et l’importance de tenir compte des éléments normaux et pathologiques de la personnalité dans le cadre d’études portant sur l’intégration au travail de personnes avec un TMG. De plus, cette thèse a permis de démontrer l’adéquation d’un nouvel instrument de mesure de la personnalité auprès de cette clientèle. Des avenues futures concernant la réintégration professionnelle et le traitement des personnes avec un TMG sont discutées à la lumière de ces résultats.

Time perception in mild cognitive impairment: Interval length and subjective passage of time

Objectives: Patients with mild cognitive impairment (MCI) may have difficulties in time perception, which in turn might contribute to some of their symptoms, especially memory deficits. The aim of this study was to evaluate perception of interval length and subjective passage of time in MCI patients as compared to healthy controls. Methods: Fifty-five MCI patients and 57 healthy controls underwent an experimental protocol for time perception on interval length, a questionnaire for the subjective passage of time and a neuropsychological evaluation. Results: MCI patients presented no changes in the perception of interval length. However, for MCI patients, time seemed to pass more slowly than it did for controls. This experience was significantly correlated with memory deficits but not with performance in executive tests, nor with complaints of depression or anxiety. Conclusions: Memory deficits do not affect the perception of interval length, but are associated with alterations in the subjective passage of time.

Delay discounting in mild cognitive impairment

Introduction : Patients with mild cognitive impairme nt (MCI) may make suboptimal decisions particularly in complex situations, and thi s could be due to temporal discounting, the tendency to prefer immediate rewards over delayed but larger rewards. The present study proposes to evaluate intertemporal prefere nces in MCI patients as compared to healthy controls. Method : Fifty-five patients with MCI and 57 h ealthy controls underwent neuropsy- chological evaluation and a delay discounting questionnaire, which evaluates three para- meters: hyperbolic discounting ( k ), the percentage of choices for delayed and later rewards (%LL), and response consistency (Acc). Results : No significant differences were found in the delay discounting questionnaire between MC I patients and controls for the three reward sizes considered, small, medium, and large, using both k and %LL parameters. There were also no differences in the response consistency, Acc, between the two groups. Conclusions : Patients with MCI perform similarly to healthy controls in a delay discounting task. Memory deficits do not notably affect intertemporal preferences.

TAKING THE PERSPECTIVE OF A SELLER AND A BUYER: IMPLICATIONS FOR PRICE ELICITATION AND PRICE FRAMING

This dissertation consists of two essays which investigate how assuming the role of a seller or a buyer affects valuations in a price elicitation task (essay I) and how different presentations of an equivalent price affect evaluations when a consumer plays the dual roles of a buyer and a seller in transactions involving trade-ins (essay II). Sellers’ willingness to accept (WTA) to give up a good is typically higher than buyers' willingness to pay (WTP) to obtain the good. Essay I proposes that valuation processes of sellers and buyers are guided by a motivational orientation of “getting the best.” For a seller (buyer) indicating WTA (WTP), getting the best implies receiving as much as possible to give up a specific good (giving up as little as possible to get the specific good). Results of six studies suggest that the WTA-WTP elicitation task activates different directional goals, leading to the WTA-WTP disparity. The different directional goals lead sellers and buyers to focus on different aspects and bias their cognitive reasoning and interpretation of information. By connecting the valuation process to the general motivation of getting the best, this research provides a unifying framework to explain the disparate interpretations of the WTA-WTP disparity. Many new purchases and replacement decisions involve consumers’ trading in their old products. In such transactions, the overall exchange may be priced either as separate transactions (partitioned) with price tags for the payment and the receipt or as a single net price (consolidated) which takes into account the value of the trade-in. Essay II examines whether consumers prefer a partitioned price versus a consolidated price presentation. The findings suggest that when consumers are trading in a product which has a low value relative to the price of a new product, they prefer a consolidated price. In contrast, when trading in a product which has high value, they prefer a partitioned price. The results suggest that consumers use the price of the new product as an anchor to evaluate the trade-in value, and the perception of the trade-in value influences the overall evaluation especially when the transaction is partitioned.

Ansiedade pós acidente vascular cerebral

Se entendemos o Acidente vascular cerebral como um acontecimento incapacitante da vida dos pacientes, poderemos compreender as alterações comportamentais e emocionas que este provoca. No entanto, poucos estudos têm sido realizados acerca desta temática, tendo assim este estudo como objetivo verificar se existe uma associação clara entre a ansiedade e um determinado tipo de AVC. Aplicou-se a escala de Montereal, o State-Trait Anxiety lnventory e o Inventario Neuropsiquiátrico numa amostra constituída por pacientes que tenham sofrido AVC no período de três meses a um ano, e num grupo controlo. Os resultados mostram que não existem diferenças significativas no que respeita à ansiedade nos pacientes com AVC anterior. Conclui-se que não existe um aumento de ansiedade, mas que os défices visuo-espaciais e atencionais são mais significativos no AVC anterior. / ABSTRACT: lf we recognize Stroke as an event that can incapacitate the patients' life, we can comprehend the behaviour and emotional changes that this provokes. One of the psychiatric symptoms usually associated to Stroke is anxiety. However, few studies have been made concerning this matter, being the purpose of this study to verify if a clear association exists between anxiety and a certain type of Stroke. The Montereal Cognitiva Assessment, State-Trait Anxiety lnventory, and Neuropsychiatric lnventory were applied in a sample consisting of patients that have suffered Stroke in the period of three months to one year, and in a control group. The results show no significant differences in what regards to anxiety in patients with previous Stroke. We conclude that there is no increase in anxiety after stroke, but cognitive deficits in visual-spatial and attentional are most significant in subjects with previous stroke.

Applications for CO2-Activated Carbon Monoliths: I. Gas Storage

Carbon monoliths with high densities are studied as adsorbents for the storage of H2, CH4, and CO2 at ambient temperature and high pressures. The starting monolith A3 (produced by ATMI Co.) was activated under a CO2 flow at 1073 K, applying different activation times up to 48 h. Micropore volumes and apparent surface areas were deduced from N2 and CO2 adsorption isotherms at 77 K and 273 K, respectively. CO2 and CH4 isotherms were measured up to 3 MPa and H2 up to 20 MPa. The BET surface area of the starting monolith (941 m2/g) could be significantly increased up to 1586 m2/g, and the developed porosity is almost exclusively comprised of micropores <1 nm. Total storage amounts take into account the compressed gas in the void space of the material, in addition to the adsorbed gas. Remarkably, high total storage amounts are reached for CO2 (482 g/L), CH4 (123 g/L), and H2 (18 g/L). These values are much higher than for other sorbents with similar surface areas, due to the high density of the starting monolith and of the activated ones, for which the density decreases only slightly (from 1.0 g/cm3 to 0.8 g /cm3 upon CO2 activation). The findings reveal the suitability of high density activated carbon monoliths for gas storage application. Thus, the amounts of stored gas can be increased by more than a 70 % in the case of H2 at 20 MPa, almost 5.5 times in the case of CH4 at 3 MPa, and more than 7.5 times in the case of CO2 at 3 MPa when adsorbents are used for gas storage under the investigated conditions rather than simple compression. Furthermore, the obtained results have been recently confirmed by a scale-up study in which 2.64 kg of high density monolith adsorbent was filled a tank cylinder of 2.5 L (Carbon, 76, 2014, 123).

Development of the Andalusian Registry of Patients Receiving Community Case Management, for the follow-up of people with complex chronic diseases.

Background: Complex chronic diseases are a challenge for the current configuration of Health services. Case management is a service frequently provided for people with chronic conditions and despite its effectiveness in many outcomes, such as mortality or readmissions, uncertainty remains about the most effective form of team organization, structures, and the nature of the interventions. Many processes and outcomes of case management for people with complex chronic conditions cannot be addressed with the information provided by electronic clinical records. Registries are frequently used to deal with this weakness. The aim of this study was to generate a registry-based information system of patients receiving case management to identify their clinical characteristics, their context of care, events identified during their follow-up, interventions developed by case managers, and services used. Methods and design: The study was divided into three phases, covering the detection of information needs, the design and its implementation in the healthcare system, using literature review and expert consensus methods to select variables that would be included in the registry. Objective: To describe the essential characteristics of the provision of ca re lo people who receive case management (structure, process and outcomes), with special emphasis on those with complex chronic diseases. Study population: Patients from any District of Primary Care, who initiate the utilization of case management services, to avoid information bias that may occur when including subjects who have already been received the service, and whose outcomes and characteristics could not be properly collected. Results: A total of 102 variables representing structure, processes and outcomes of case management were selected for their inclusion in the registry after the consensus phase. Total sample was composed of 427 patients, of which 211 (49.4%) were women and 216 (50.6%) were men. The average functional level (Barthel lndex) was 36.18 (SD 29.02), cognitive function (Pfeiffer) showed an average of 4.37 {SD 6.57), Chat1son Comorbidity lndex, obtained a mean of 3.03 (SD 2.7) and Social Support (Duke lndex) was 34.2 % (SD 17.57). More than half of patients include in the Registry, correspond lo immobilized or transitional care for patients discharged from hospital (66.5 %). The patient's educational level was low or very low (50.4%). Caregivers overstrain (Caregiver stress index), obtained an average value of 6.09% (SD 3.53). Only 1.2 % of patients had declared their advanced directives, 58.6 had not defined the tutelage and the vast majority lived at home 98.8 %. Regarding the major events recorded at RANGE Registry, 25.8 % of the selected patients died in the first three months, 8.2 % suffered a hospital admission at least once time, 2.3%, two times, and 1.2% three times, 7.5% suffered a fall, 8.7% had pressure ulcer, 4.7% had problems with medication, and 3.3 % were institutionalized. Stroke is the more prevalent health problem recorded (25.1%), followed by hypertension (11.1%) and COPD (11.1%). Patients registered by NCMs had as main processes diabetes (16.8%) and dementia (11.3 %). The most frequent nursing diagnoses referred to the self-care deficit in various activities of daily living. Regarding to nursing interventions, described by the Nursing Intervention Classification (NIC), dementia management is the most used intervention, followed by mutual goal setting, caregiver and emotional support. Conclusions: The patient profile who receive case management services is a chronic complex patient with severe dependence, cognitive impairment, normal social support, low educational level, health problems such as stroke, hypertension or COPD, diabetes or dementia, and has an informal caregiver. At the first follow up, mortality was 19.2%, and a discrete rate of readmissions and falls.

The China longitudinal ageing study: overview of the demographic, psychosocial and cognitive data of the Shanghai sample

BACKGROUND: China's ageing population will lead to increased neurodegenerative illness and age-related mental health problems. AIMS: The Chinese Longitudinal Ageing Study has been developed to better understand the impact of ageing on cognition and mental health. An overview of the sample, major diagnoses and results of the first wave of data collection is presented. METHOD: One thousand and sixty-eight elderly Chinese (42.2% male), mean age of 72.8 years (SD = 8.5) completed a comprehensive cognitive, psychosocial and mental health assessment. RESULTS: Mean MMSE score was 24.73 (SD = 6.17). Primary generalised anxiety was detected in 0.4% of the sample. Sub-clinical depression and depressive disorder were diagnosed in 1.7% and 2.4% of the sample, respectively. Most (84.5%) reported subjective memory decline, however 66.5% had no cognitive impairment. Mild Cognitive Impairment (MCI) was detected in 25%, Alzheimer's disease (AD) in 4.7%, vascular dementia in 2.5%, and mixed dementia in 1.3%. Cognition was worse in those 85+ years, but affective disorder rates were not. CONCLUSION: Higher rates of dementia were detected than previously reported in China. Normative data is presented for common cognitive and mental health assessment and screening tasks in a Chinese population. This suggests that the true incidence of dementia has been underestimated, and requires further investigation.

Do cognitive, language, or physical impairments affect participation in a trial of self-management programs for stroke?

BACKGROUND: Research studies may have limited generalizability when survivors of stroke with physical, language, or cognitive impairments are excluded. AIMS: To assess whether presence of cognitive, language, or global impairments affects participation in self-management programs.

METHODS: Stroke survivors were recruited in South Australia from seven hospitals or via advertisements into a randomized controlled trial (1:1:1 ratio) of a Stroke Self-Management Program, the Stanford chronic condition self-management program, or standard care. Impairment status was measured using: Cognistat (cognition), Frenchay Aphasia assessment (language), modified Rankin Score (mRS; where score 3-5 = global disability).

PRIMARY OUTCOMES: participation (i.e. booked, accessed, and completed a program (defined as attending ≥ 50% of sessions)) and safety (i.e. adverse events). Outcomes were compared by impairment status. RESULTS: Among 315 people screened 143/149 eligible were randomized (median age 71 years; 41% male; with impairments: 62% cognitive, 34% language, 64% global disability). Participation did not differ by cognitive or language impairment status (cognitive 75%, no cognitive 68%, p = 0.54; language 78%, no language 69%, p = 0.42). However, participation did vary by global impairment status (global disability 61%, no disability 96%, p < 0.001). Participants with cognitive impairment experienced more adverse events (severe n = 9 versus no cognitive impairment n = 1).

CONCLUSION: Survivors of stroke with cognitive, language, or global impairments are able to participate in self-management programs and should be included in these types of research studies or programs. Reduced participation by those with global disability and the possibility of more adverse events in people with cognitive impairments needs to be considered.