Personality and personality disorders in urban and rural Africa: results from a field trial in Burkina Faso

When conducting research in different cultural settings, assessing measurement equivalence is of prime importance to determine if constructs and scores can be compared across groups. Structural equivalence implies that constructs have the same meaning across groups, metric equivalence implies that the metric of the scales remains stable across groups, and full scale or scalar equivalence implies that the origin of the scales is the same across groups. Several studies have observed that the structure underlying both normal personality and personality disorders (PDs) is stable across cultures. Most of this cross-cultural research was conducted in Western and Asian cultures. In Africa, the few studies were conducted with well-educated participants using French or English instruments. No research was conducted in Africa with less privileged or preliterate samples. The aim of this research was to study the structure and expression of normal and abnormal personality in an urban and a rural sample in Burkina Faso. The sample included 1,750 participants, with a sub-sample from the urban area of Ouagadougou (n = 1,249) and another sub-sample from a rural village, Soumiaga (n = 501). Most participants answered an interview consisting of a Mooré language adaptation of the Revised NEO Personality Inventory and of the International Personality Disorders Examination. Mooré is the language of the Mossi ethnic group, and the most frequently spoken local language in Burkina Faso. A sub-sample completed the same self-report instruments in French. Demographic variables only had a small impact on normal and abnormal personality traits mean levels. The structure underlying normal personality was unstable across regions and languages, illustrating that translating a complex psychological inventory into a native African language is a very difficult task. The structure underlying abnormal personality and the metric of PDs scales were stable across regions. As scalar equivalence was not reached, mean differences cannot be interpreted. Nevertheless, these differences could be due to an exaggerated expression of abnormal traits valued in the two cultural settings. Our results suggest that studies using a different methodology should be conducted to understand what is considered, in different cultures, as deviating from the expectations of the individual's culture, and as a significant impairment in self and interpersonal functioning, as defined by the DSM-5.

Multimodal Strategies in Development.Predictive Value of early simultaneosgesture-speech comination

The present study investigates the predictive value of the early appearance of simultaneous pointing-speech combinations. An experimental task was used to obtain a communicative productive sample from nineteen children at 1;0 and 1;3. Infant’s communicative productions, in combination with gaze joint engagement patterns, were analyzed in relation to different social conditions. The results show a significant effect of age and social condition on infants’ communicative productions. Gesture-speech combinations seem to work as a strong communicative resource to attract the adult’s attention in social demanding communicative contexts. Gaze joint engagement was used in combination with simultaneous pointing-speech combinations to attract adults’ attention during social demanding conditions. Finally, the use of simultaneous pointing-speech combinations at 1;0 in demanding conditions predicted greater expressive vocabulary acquisition at 1;3 and 1;6. These results indicate that the use of gesture-speech combinations may be considered a significant step towards the early integration of language components.

Taxometric analysis of DSM-IV and DSM-5 alcohol use disorders.

BACKGROUND: With preparations currently being made for the Diagnostic and Statistical Manual of Mental Disorders-5th Edition (DSM-5), one prominent issue to resolve is whether alcohol use disorders are better represented as discrete categorical entities or as a dimensional construct. The purpose of this study was to investigate the latent structure of DSM-4th edition (DSM-IV) and proposed DSM-5 alcohol use disorders. METHODS: The study used the Wave 2 National Epidemiologic Survey on Alcohol and Related Conditions (NESARC) to conduct taxometric analyses of DSM-IV and DSM-5 alcohol use disorders defined by different thresholds to determine the taxonic or dimensional structure underlying the disorders. RESULTS: DSM-IV and DSM-5 alcohol abuse and dependence criteria with 3+ thresholds demonstrated a dimensional structure. Corresponding thresholds with 4+ criteria were clearly taxonic, as were thresholds defined by cut-offs of 5+ and 6+ criteria. CONCLUSIONS: DSM-IV and DSM-5 alcohol use disorders demonstrated a hybrid taxonic-dimensional structure. That is, DSM-IV and DSM-5 alcohol use disorders may be taxonically distinct compared to no disorder if defined by a threshold of 4 or more criteria. However, there may be dimensional variation remaining among non-problematic to subclinical cases. A careful and systematic program of structural research using taxometric and psychometric procedures is warranted.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Proteoglycans (PGs) are a major component of the extracellular matrix in many tissues and function as structural and regulatory molecules. PGs are composed of core proteins and glycosaminoglycan (GAG) side chains. The biosynthesis of GAGs starts with the linker region that consists of four sugar residues and is followed by repeating disaccharide units. By exome sequencing, we found that B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe skeletal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1). B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from seven families. In a subsequent candidate gene study based on the phenotypic similarity, we found that B3GALT6 is also responsible for a connective tissue disease, Ehlers-Danlos syndrome (progeroid form). Recessive loss-of-function mutations in B3GALT6 result in a spectrum of disorders affecting a broad range of skeletal and connective tissues characterized by lax skin, muscle hypotonia, joint dislocation, and spinal deformity. The pleiotropic phenotypes of the disorders indicate that B3GALT6 plays a critical role in a wide range of biological processes in various tissues, including skin, bone, cartilage, tendon, and ligament.

The use of COOP/WONCA charts as a screen for mental disorders in the immigrant community in primary care in primary care

Aim. To evaluate the usefulness of COOP/WONCA charts as a screening tool for mental disorders in primary care in the immigrant healthcare users in Salt. To measure self-rated health of Salt immigration population using the COOP / WONCA charts and to assess its associated factorsDesign. Descriptive and transversal studyParticipants. 370 non-EU immigrants seniors selected by consecutive sampling stratified by sexMain measures. Personal information will be collected (age, sex, country of origin, years of residency in Spain, number of people living in the household and associated comorbidities). Each participant will complete the COOP/WONCA charts. An analysis of the validity of the diagnostic test will be done: sensibility, specificity, positive predictive value, negative predictive value, ROC curve and area under the curve (AUC). All variables will be subjected to descriptive analysis. Bivariate and multivariate analysis between the variables collected (sex, years of residency in Spain... ) and the results of COOP / WONCA charts will be performedResults. Preliminary results are available on a pilot test with 30 patients. The mental disorder prevalence is around 30%. Sensibility (0,89), specificity (0,89), VPP (0,80), VPN (0,94) cutoff score (3.5) and AUC (0,941). Women, people with 10 or more years of residency in Spain and unemployed people have worse self-rated healthConclusions. Based on the preliminary results, is possible to conclude that COOP/WONCA charts could be an useful, valid and applicable screening test for mental disorders in primary care with immigrant population

Management of Pharyngeal Fistulas After Anterior Cervical Spine Surgery: A Treatment Algorithm for Severe Complications.

STUDY DESIGN:: Retrospective database- query to identify all anterior spinal approaches. OBJECTIVES:: To assess all patients with pharyngo-cutaneous fistulas after anterior cervical spine surgery. SUMMARY OF BACKGROUND DATA:: Patients treated in University of Heidelberg Spine Medical Center, Spinal Cord Injury Unit and Department of Otolaryngology (Germany), between 2005 and 2011 with the diagnosis of pharyngo-cutaneous fistulas. METHODS:: We conducted a retrospective study on 5 patients between 2005 and 2011 with PCF after ACSS, their therapy management and outcome according to radiologic data and patient charts. RESULTS:: Upon presentation 4 patients were paraplegic. 2 had PCF arising from one piriform sinus, two patients from the posterior pharyngeal wall and piriform sinus combined and one patient only from the posterior pharyngeal wall. 2 had previous unsuccessful surgical repair elsewhere and 1 had prior radiation therapy. In 3 patients speech and swallowing could be completely restored, 2 patients died. Both were paraplegic. The patients needed an average of 2-3 procedures for complete functional recovery consisting of primary closure with various vascularised regional flaps and refining laser procedures supplemented with negative pressure wound therapy where needed. CONCLUSION:: Based on our experience we are able to provide a treatment algorithm that indicates that chronic as opposed to acute fistulas require a primary surgical closure combined with a vascularised flap that should be accompanied by the immediate application of a negative pressure wound therapy. We also conclude that particularly in paraplegic patients suffering this complication the risk for a fatal outcome is substantial.

Abnormalities of sodium excretion and other disorders of renal function in fulminant hepatic failure

Renal function was evaluated in 40 patients with fulminant hepatic failure, They were divided into two groups on the basis of glomerular filtration rates greater than 40 ml/min or less than 25 ml/min. A number of patients in group 1 had markedly abnormal renal retention of sodium together with a reduced free water clearance and low potassium excretion which could be explained by increased proximal tubular reabsorption of sodium. The patients in group 2 had evidence that renal tubular integrity was maintained when the glomerular filtration rate was greater than or equal ml/min (functional renal failure), but evidence of tubular damage was present when this was less than 3 ml/min (acute tubular necrosis).

The Alcohol Use Disorders Identification Test (AUDIT) as a screening tool for excessive drinking in primary care: reliability and validity of a French version.

BACKGROUND: Excessive drinking is a major problem in Western countries. AUDIT (Alcohol Use Disorders Identification Test) is a 10-item questionnaire developed as a transcultural screening tool to detect excessive alcohol consumption and dependence in primary health care settings. OBJECTIVES: The aim of the study is to validate a French version of the Alcohol Use Disorders Identification Test (AUDIT). METHODS: We conducted a validation cross-sectional study in three French-speaking areas (Paris, Geneva and Lausanne). We examined psychometric properties of AUDIT as its internal consistency, and its capacity to correctly diagnose alcohol abuse or dependence as defined by DSM-IV and to detect hazardous drinking (defined as alcohol intake >30 g pure ethanol per day for men and >20 g of pure ethanol per day for women). We calculated sensitivity, specificity, positive and negative predictive values and Receiver Operator Characteristic curves. Finally, we compared the ability of AUDIT to accurately detect "alcohol abuse/dependence" with that of CAGE and MAST. RESULTS: 1207 patients presenting to outpatient clinics (Switzerland, n = 580) or general practitioners' (France, n = 627) successively completed CAGE, MAST and AUDIT self-administered questionnaires, and were independently interviewed by a trained addiction specialist. AUDIT showed a good capacity to discriminate dependent patients (with AUDIT > or =13 for males, sensitivity 70.1%, specificity 95.2%, PPV 85.7%, NPV 94.7% and for females sensitivity 94.7%, specificity 98.2%, PPV 100%, NPV 99.8%); and hazardous drinkers (with AUDIT > or =7, for males sensitivity 83.5%, specificity 79.9%, PPV 55.0%, NPV 82.7% and with AUDIT > or =6 for females, sensitivity 81.2%, specificity 93.7%, PPV 64.0%, NPV 72.0%). AUDIT gives better results than MAST and CAGE for detecting "Alcohol abuse/dependence" as showed on the comparative ROC curves. CONCLUSIONS: The AUDIT questionnaire remains a good screening instrument for French-speaking primary care.

Associations between mood, anxiety or substance use disorders and inflammatory markers after adjustment for multiple covariates in a population-based study.

Inflammation is one possible mechanism underlying the associations between mental disorders and cardiovascular diseases (CVD). However, studies on mental disorders and inflammation have yielded inconsistent results and the majority did not adjust for potential confounding factors. We examined the associations of several pro-inflammatory cytokines (IL-1β, IL-6 and TNF-α) and high sensitive C-reactive protein (hsCRP) with lifetime and current mood, anxiety and substance use disorders (SUD), while adjusting for multiple covariates. The sample included 3719 subjects, randomly selected from the general population, who underwent thorough somatic and psychiatric evaluations. Psychiatric diagnoses were made with a semi-structured interview. Major depressive disorder was subtyped into "atypical", "melancholic", "combined atypical-melancholic" and "unspecified". Associations between inflammatory markers and psychiatric diagnoses were assessed using multiple linear and logistic regression models. Lifetime bipolar disorders and atypical depression were associated with increased levels of hsCRP, but not after multivariate adjustment. After multivariate adjustment, SUD remained associated with increased hsCRP levels in men (β = 0.13 (95% CI: 0.03,0.23)) but not in women. After multivariate adjustment, lifetime combined and unspecified depression were associated with decreased levels of IL-6 (β = -0.27 (-0.51,-0.02); β = -0.19 (-0.34,-0.05), respectively) and TNF-α (β = -0.16 (-0.30,-0.01); β = -0.10 (-0.19,-0.02), respectively), whereas current combined and unspecified depression were associated with decreased levels of hsCRP (β = -0.20 (-0.39,-0.02); β = -0.12 (-0.24,-0.01), respectively). Our data suggest that the significant associations between increased hsCRP levels and mood disorders are mainly attributable to the effects of comorbid disorders, medication as well as behavioral and physical CVRFs.

Reconciling phonological neighborhood effects in speech production through single trial analysis

A crucial step for understanding how lexical knowledge is represented is to describe the relative similarity of lexical items, and how it influences language processing. Previous studies of the effects of form similarity on word production have reported conflicting results, notably within and across languages. The aim of the present study was to clarify this empirical issue to provide specific constraints for theoretical models of language production. We investigated the role of phonological neighborhood density in a large-scale picture naming experiment using fine-grained statistical models. The results showed that increasing phonological neighborhood density has a detrimental effect on naming latencies, and re-analyses of independently obtained data sets provide supplementary evidence for this effect. Finally, we reviewed a large body of evidence concerning phonological neighborhood density effects in word production, and discussed the occurrence of facilitatory and inhibitory effects in accuracy measures. The overall pattern shows that phonological neighborhood generates two opposite forces, one facilitatory and one inhibitory. In cases where speech production is disrupted (e.g. certain aphasic symptoms), the facilitatory component may emerge, but inhibitory processes dominate in efficient naming by healthy speakers. These findings are difficult to accommodate in terms of monitoring processes, but can be explained within interactive activation accounts combining phonological facilitation and lexical competition.

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

Mendelian cardiomyopathies and arrhythmias are characterized by an important genetic heterogeneity, rendering Sanger sequencing very laborious and expensive. As a proof of concept, we explored multiplex targeted high-throughput sequencing (HTS) as a fast and cost-efficient diagnostic method for individuals suffering from Mendelian cardiac disorders. We designed a DNA capture assay including all exons from 130 genes involved in cardiovascular Mendelian disorders and analysed simultaneously four samples by multiplexing. Two patients had familial hypertrophic cardiomyopathy (HCM) and two patients suffered from long QT syndrome (LQTS). In patient 1 with HCM, we identified two known pathogenic missense variants in the two most frequently mutated sarcomeric genes MYH7 and MYBPC. In patient 2 with HCM, a known acceptor splice site variant in MYBPC3 was found. In patient 3 with LQTS, two missense variants in the genes SCN5A and KCNQ were identified. Finally, in patient 4 with LQTS a known missense variant was found in MYBPC3, which is usually mutated in patients with cardiomyopathy. Our results showed that multiplex targeted HTS works as an efficient and cost-effective tool for molecular diagnosis of heterogeneous disorders in clinical practice and offers new insights in the pathogenesis of these complex diseases.

Neurocognitive deficits and personality traits among euthymic patients with mood disorders in late life.

BACKGROUND: Previous studies revealed that acute depressive episodes are associated with both cognitive deficits and modified personality patterns in late life. Whether or not these psychological changes are present after remission remains a matter of debate. To date, no study provided concomitant assessment of cognition and psychological functions in this particular clinical setting. METHOD: Using a cross-sectional design, 58 remitted outpatients (36 with unipolar early-onset depression (EOD) and 22 with bipolar disorder (BD)) were compared to 62 healthy controls. Assessment included detailed neurocognitive measures and evaluation of the five factor personality dimensions (NEO-Personality Inventory). RESULTS: Group comparisons revealed significant slower processing speed, working and episodic memory performances in BD patients. EOD patients showed cognitive abilities comparable to those of elderly controls. In NEO PI assessment, both BD and EOD patients displayed higher Depressiveness facet scores. In addition, the EOD but not BD group had lower Extraversion factor, and Warmth and Positive Emotion facet scores than controls. CONCLUSIONS: After remission from acute affective symptoms, older BD patients show significant impairment in several cognitive functions while neuropsychological performances remained intact in elderly patients with EOD. Supporting a long-lasting psychological vulnerability, EOD patients are more prone to develop emotion-related personality trait changes than BD patients.

Durée et structure du sommeil et risques métaboliques et cardiovasculaires = [Sleep structure and cardiometabolic disorders]

Introduction : Plusieurs études épidémiologiques et de laboratoire basées sur des estimations subjectives de la durée et de la qualité du sommeil suggèrent que celles-ci pourraient être associées à une augmentation du risque de troubles métaboliques ou cardiovasculaires. Objectif : Dans cette étude nous avons examiné les associations entre les caractéristiques du sommeil évaluées objectivement par Polysomnographie (PSG) et le syndrome métabolique ainsi que ses composants (hypertension, diabète, obésité). Matériel et méthodes : Nous avons analysé les données de 2162 sujets de la population générale (dont le 51.2% étaient des femmes, âge moyen : 58.4±11.1 ans, fourchette d'âge: 40.5-84.4) qui ont participé à l'étude Hypnolaus. Tous les sujets ont eu une évaluation clinique et biologique et ils ont bénéficié d'une PSG complète à domicile. Résultats : Les analyses univariées ont montré que les sujets présentant un syndrome métabolique avaient une diminution du temps total de sommeil, du sommeil lent profond, du sommeil paradoxal et de l'efficacité du sommeil, ainsi qu'une augmentation de l'index de microéveils par rapport aux sujets qui n'avaient pas un syndrome métabolique. Nous avons aussi trouvé des différences significatives de la structure du sommeil en fonction de la présence ou de l'absence d'hypertension, de diabètes et de surpoids/obésité. Cependant, ces différences s'atténuent après ajustement pour des facteurs confondants (âge, genre, tabagisme, prise d'alcool, activité physique, médicaments qui affectent le sommeil, dépression, santé globale et indice de masse corporelle). Seules des différences marginales, non statistiquement significatives, persistaient dans le modèle multiajusté et après stratification en fonction de la présence de troubles respiratoires au cours du sommeil. Conclusions: Dans cet échantillon de la population générale nous avons mis en évidence des associations significatives entre la structure du sommeil et le syndrome métabolique ainsi que ses composants. Cependant, ces associations ne sont pas indépendantes des autres facteurs de risque cardiométabolique connus. Nous en concluons que les variations normales de la durée et de la structure du sommeil contribuent peu ou pas au syndrome métabolique et ses troubles associés.