Implementation of genome-scale sequencing in clinical care has significant challenges: the technology is highly dimensional with many kinds of potential results, results interpretation and delivery require expertise and coordination across multiple medical specialties, clinical utility may be uncertain, and there may be broader familial or societal implications beyond the individual participant. Transdisciplinary consortia and collaborative team science are well poised to address these challenges. However, understanding the complex web of organizational, institutional, physical, environmental, technologic, and other political and societal factors that influence the effectiveness of consortia is understudied. We describe our experience working in the Clinical Sequencing Evidence-Generating Research (CSER) consortium, a multi-institutional translational genomics consortium.

A key aspect of the CSER consortium was the juxtaposition of site-specific measures with the need to identify consensus measures related to clinical utility and to create a core set of harmonized measures. During this harmonization process, we sought to minimize participant burden, accommodate project-specific choices, and use validated measures that allow data sharing.

Identifying platforms to ensure swift communication between teams and management of materials and data were essential to our harmonization efforts. Funding agencies can help consortia by clarifying key study design elements across projects during the proposal preparation phase and by providing a framework for data sharing data across participating projects.

In summary, time and resources must be devoted to developing and implementing collaborative practices as preparatory work at the beginning of project timelines to improve the effectiveness of research consortia.

To explore the relationship between symptomatic and functional outcomes in adults (age 18-65 years) with ADHD during open label treatment with PR OROS MPH.

Post hoc analyses of a 7-week open-label extension (OLE) (N=370) of a 5 week, placebo controlled double-blind study (DB) which explored safety, efficacy, functional and quality of life outcomes in subjects with a diagnosis of ADHD (DSM-IV). Medication was flexibly dosed (18-90 mg/day) and adjusted individually to best effect during OLE. Regression analyses were performed on the change from DB baseline at OL endpoint in functionality and quality of life as measured by the Sheehan Disability Scale (SDS) and Quality of Life (Q-LES-Q). Baseline score, country, randomization group, sex, change from baseline in CAARS Hyperactivity / Impulsivity, CAARS Inattention and CGI-S at DB endpoint were included as covariates in the analyses.

337 / 370 patients completed the 7-week open label treatment. Improvement on CAARS Hyperactivity / Impulsivity at DB endpoint was significantly related with improvement in SDS “work”, “social life”, “family life” (at least p< 0.005) and “total score” as well as quality of life (p< 0.05) at the end of open label treatment. Change in CGI-S and CAARS Inattention at DB endpoint vs. DB baseline were not related with improvements in any of the functional or quality of life scales at OL endpoint (p>0.05).

These results indicate that improvement in daily functioning and QOL under active treatment may be particularly related to improvement in hyperactivity symptoms.

Brief Psychotic Disorder (BPD) is a disease characterized by sudden onset of psychotic symptoms. This disturbance lasts at least 1 day but less than 1 month, and the subject fully recovered premorbid level. In the literature there are few data on its prevalence, established between 4-10% of all psychotic disorders. Although a female preponderance has been postuled, gender differences have not been well studied. Therefore, the aim of the present study is to examined sex differences in brief psychotic disorder.

We conducted a retrospective study to estimate the gender differences in an inpatient psychiatric sample. This sample (n=39) included acute patients admitted in a psychiatry ward with diagnosis of brief psychotic disorder. The clinical and socio-demographic characteristics were analysed for males and females separately.

Of a total of 39 patients with BPD, 74.4% were women (n = 29) and 25.6% male (n = 10). Mean age at diagnosis was 33 +/- 8.65 years. Of the clinical variables studied, none was significantly different between male and female. Men had a higher consumption of alcohol (p< 0’05); there were no differences in axis II. Males had more psychiatric family history (70% vs 48.3%), although not statistically significant. Women had more frequent family history of mood disorders and men of psychotic disorders (p < 0.05).

We found higher prevalence of BPD in women. Males had more family history (mostly psychotic) and more toxic dependence. Further studies are needed with larger samples to determine the existence of sex differences.

Chronic Fatigue Syndrome (CFS) is characterized by severe fatigue associated with pain, sleep disturbance, attentional impairment and headaches. Evidence points towards a prominent role for Central Nervous System in its pathogenesis, and alterations in serotoninergic and dopaminergic neurotransmission have been described.

Attention-deficit Hyperactivity Disorder (ADHD) courses with inattention, impulsivity, and hyperactivity. It affects children and persists into adulthood in 50% of patients. Dopamine transporter abnormalities lead to impaired neurotransmission of catecholaminergic frontal-subcortical-cerebellar circuits.

To describe the prevalence of ADHD in a sample of CFS patients, and the clinical implications of the association.

To study the relationship between CFS and ADHD.

The initial sample consisted of 142 patients, of whom 9 were excluded because of severe psychopathology or incomplete evaluation. All the patients (age 49 ± 87; 94,7 women) received CFS diagnoses according to Fukuda criteria. ADHD was assessed with a diagnostic interview (CAADID), ADHD Rating Scale and the scale WURS, for childhood diagnose. The scales FIS-40, HAD, STAI and Pluthik Risk of Suicide (RS) were administrated.

38 patients (28,8%) were diagnosed of childhood ADHD (4 combined, 22 hyperactive-impulsive, 12 inattentive) and persisted into adulthood in 28 (21,1%; 5 combined, 4 hyperactive-impulsive, 19 inattentive). There were no differences in Fukuda criteria profile and FIS-40 between groups. ADHD patients scored higher in HAD-Anxiety (9,88 ± 4,82 vs. 12,57 ± 3,49; p = 0,007), HAD-Depression (9,69 ± 4,84 vs. 12,04 ± 4,53; p = 0,023), STAI-E (30,55 ± 14,53 vs. 38,41 ± 11,35; p = 0,012), and RS (6,13 ± 3,48 vs. 8,49 ± 3,07; p = 0,002).

ADHD is frequent in CFS patients and it is associated with more severe clinical profile.

To describe validation process of the new apathy scale for institutionalized dementia patients (APADEM-NH).

100 elderly, institutionalized patients with diagnosis of probable Alzheimer Disease (AD) (57%), possible AD (13%), AD with cerebral vascular disease (CVD) (17%), Lewy Bodies Dementia (11%) and Parkinson associated to dementia (PDD) (2%). All stages of the disease severity according to the Global Deterioration Scale (GDS) and Clinical Dementia Rating (CDR) were assessed. The Apathy Inventory (AI), Neuropsychiatric Inventory (NPI), Cornell scale for depression, and the tested scale were applied. Re-test and inter-rater reliability was carried out in 50 patients. The feasibility and acceptability, reliability, validity, and measurement precision were analyzed.

APADEM-NH final version consists of 26 items and 3 dimensions: Deficit of Thinking and Self-Generated behaviors (DT): 13 items, Emotional Blunting (EB): 7 items, and Cognitive Inertia (CI): 6 items. Mean application time was 9.56 minutes and 74% of applications were fully computable. All subscales showed floor and ceiling effect lower than 15%. Internal consistency was excellent for each dimension (Cronbach’s α DT = 0.88, α EB = 0.83, α CI= 0.88);Test-retest reliability for the items was kW=0,48-0,92; Inter-rater reliability reached kW values 0.84-1.00; The APADEM-NH total score showed a low/moderate correlation with apathy scales (Spearman ρ, AI =0.33; NPI-Apathy= 0,31), no correlation with depression scales (NPI-Dementia = -0.003; Cornell= 0,10), and high internal validity (ρ =0.69 0.80).

APADEM-NH is a brief, psychometrically acceptable, and valid scale to assess apathy in patients from mild to severe dementia and discerning between apathy and depression.

Compliance is essential to achieve the best results in serious mental illness like schizophrenia.

It was expected that the use of second-generation oral antipsychotics with less extrapyramidal side effect profile would improve the compliance, but the results do not support these expectations except in the case of risperidone long-acting injection.

The aim of this study is to assess the degree of compliance in outpatients who were started treatment with RLAI while they were hospitalized for an acute psychotic episode in psychiatric unit.

A retrospective study was conducted by reviewing medical records of hospitalized patients for psychotic episodes over the past 5 years in three hospitals in Mallorca (Balearic Islands, Spain) -Hospital de Manacor, Hospital son Llatzer and Hospital de Inca). Due to computerization of medical records, we knew the degree of compliance with treatment and outcome in outpatient clinics. We designed a case report data (CRD) to assess specific variables in our study that was completed for each patient.

The mean duration of treatment in patients who continue with RLAI was 38.8 months. Overall. 69.5% continued with the treatment after 5 years. The patients who continued treatment were rehospitalazed 20% less than the ones who discontinued.

The compliance with RLAI in outpatients was high even in patients with substances abuse. The patients who remain on treatment from hospital discharge have less readmissions. The most common dosis of RLAI is 50 mg. Lack of insight was the most frequent cause of discontinuation.

One of the problems of many studies and clinical trials is that don’t reflect the patient's opinion about the medication that they receive and their satisfaction.

The aim of this study was to assess the degree of outpatients satisfaction with antipsychotic treatment in four outpatients clinics in Mallorca. The adherence rates was estimated from information provided by the patients and their psychiatrists.

A cross.-sectional and descriptive study was conducted during one month, from May to June 2010, by administering several questionnaires to outpatients with psychotic disorders. It was designed a case report data which recorded the following variables: age, gender, diagnosis (schizophreniform, schizophrenia, schizoaffective disorder, delusional, psychotic disorder not otherwise specified), time since diagnosis, substance use, number of antipsychotic drugs, type of antipsychotic (oral and / or im), number of doses per day and number of tablets, via of administration (buttocks or deltoid). The psychometric instruments used were: the Morisky-Green test, Haynes-Sacket test, the MSQ (Medication Satisfaction Questionnaire) and CGI (Clinical Global Impression).

The sample was of 92 patients with a mean age of 42.1 years (SD 12.2): 57.6% male and the most frequent diagnosis was schizophrenia in 65.2%. The duration of treatment from diagnosis was more than 5 years in 66.3%.

The patients on maintenance monotherapy with RLAI showed better adherence rates and more insight, evaluated by their psychiatrits.

78% of patients receiving antipsychotic medication injections were satisfied with the treatment.

Patients with RLAI administrating in deltoid were satisfied in 65.7%.

Recent studies have suggested an association between elevated levels of bilirubin and psychotic spectrum disorders. The aim of our study was to compare the levels of bilirubin in the different psychotic disorders among themselves and with other mental disorders.

Observational, retrospective, in a sample of patients admitted to the Acute Psychiatric Unit between January 2007 and December 2009. We included all patients with plasma concentrations of bilirubin in the blood analysis. We excluded patients with toxic abuse and alterations in the liver reflected in increased transaminases.

The final sample of 523 patients. Patients with psychotic disorder had bilirubin levels significantly higher than patients with other diagnosis (p < 001).

Psychotic disorders were subdivided into 5 groups: schizophrenia (N = 76), schizoaffective disorder (N = 53), delusional disorder (N = 21), brief psychotic disorder (N = 29) and other unspecified psychotic disorders (N = 34). The brief psychotic disorder patients had bilirubin levels significantly higher than other categories of the same spectrum (p < 0.001).

The psychotic spectrum patients have higher bilirubin levels at admission than other diagnostic entities, and this increase is mainly explained by Brief Psychotic Disorder. Bilirubin figures correlate negatively with psychotic symptoms days, so the brief psychotic disorder, is proclaimed as an ideal model for the llaboratory studies about psychotic spectrum disorders.

Symptomatic neurosyphilis in immunocompetent patients is nowadays a rare diagnosis. Yet, if not properly diagnosed and treated, consequences for the patient's health are severe. Known as “the great imitator”, its detection involves both a high degree of suspicion and adequate diagnostic tests. Psychiatric symptoms are often the presenting symptoms of this illness.

The authors report four cases of neurosyphilis with psychiatric symptoms (general paresis) in immunocompetent patients. all four patients were initially referred for observation by a psychiatrist in the emergency room. Special diagnostic features of each case and potential diagnostic pitfalls are highlighted.

To raise awareness to the importance of this rare but highly disabling disease.

Review of clinical records and complementary exams.

All patients were male, two Caucasian and two African Black, with ages ranging from 41–56 years old. Clinical presentations were quite distinct, showing the symptomatic heterogeneity of paretic neurosyphilis. Blood VDRL test was negative in one case, CSF VDRL was negative in another case. TPHA was always positive in blood and CSF. White cell count and protein quantification in the CSF remains important to confirm diagnosis.

Current prevalence of symptomatic neurosyphilis in Western Europe is unknown. Atypical cases presenting with heterogeneous psychiatric and neurologic symptoms, with no previous history of mental illness, should undergo blood VDRL testing, and specific blood treponemal testing should be considered in specific situations. A high index of clinical suspicion is needed. Confirmation of diagnosis is only possible through further CSF analysis.

There is robust evidence recommending electroconvulsive therapy (ECT) in treating severe acute affective disorders. The clinical use of bitemporal electrode placement is still favoured to unilateral placement with just a relative disadvantage in cognitive side effects. Recently, bifrontal placement has gained popularity but there is still limited evidence on its relative benefits.

Compare bitemporal and bifrontal ECT efficacy in patients with pharmacologically resistant affective disorders, based on the number of acute phase treatments required to reach symptomatic remission.

Review of all patients' charts submitted to acute phase ECT, between June 2006 and June 2011. A total of 70 ECT treatment courses performed in a group of 67 patients met inclusion criteria. Thirty-eight of the total 70 courses received bitemporal ECT, and 32 received bifrontal ECT. A statistical analysis was performed. An attempt to use t-test was foiled due to breach of population variance homogeneity (p = 0,021). The non-parametric Mann-Whitney test was the alternative choice (M-W = 534;p = 0,377).

Bitemporal and bifrontal groups matched for age and sex. Bitemporal patients received on average five ECT treatments, while the average of bifrontal treatments to remission was six, but this difference was not statistically significant (p > 0.05).

Our results showed that bitemporal and bifrontal placements are equally effective. According to the largest randomised controlled trial conducted on ECT in depressive illness (Kellner et al,2010), bitemporal placement led to a faster rate of improvement. Additional studies and larger samples are required to understand if bifrontal placement's efficacy and cognitive advantages justify its popularity.

The co-occurrence of mania and delirium, named “delirious mania”, is an under-recognized entity not listed in major diagnostic classifications. Literature about this syndrome is still scarce and lacking evidence. Usually, reports of affective syndromes with delirium tend to be subdued in the manic descriptor

We report the case of a 44 year old female patient with a simultaneous affective episode and delirium.

To demonstrate the co-occurrence of depressive/mixed symptoms and delirium

Review of clinical records and complementary exams.

The patient was admitted after a three week long depressive syndrome with psychomotor agitation, followed by a week-long fluctuating pattern of delirious and mixed affective features. Shortly after admission the patient exhibited a stuporous state, with nocturnal agitation. A fluctuating pattern of symptoms ensued, with disorientation, disorganized behavior, cognitive impairment, anxiety and depressive features. the patient was put on mood stabilizers, antipsychotics and benzodiazepines. She was discharged symptom-free two months later and re-admitted 4 weeks later due to recurrence of symptoms. Electroconvulsive treatment was applied,with quick remission of affective symptoms. Yet, it took another two months until discharge, due to persistent cognitive symptoms. Medical conditions were excluded.

This case shows the simultaneous occurrence of an affective syndrome alongside delirium. the strongest treatment response occurred with ECT. the presence of depressed mood highlights the fact that this syndrome can begin without clear-cut manic symptoms. We suggest that its name should be changed to Delirious Affective Disorder, which might help to avoid misdiagnosis. Persistent cognitive deficits raise some questions in this case.

Bipolar mixed states were systematically described for the first time by Emil Kraepelin. Since then, their high prevalence has been repeatedly recognized, but they still remain poorly understood. These patients appear to be extremely difficult to treat, many being refractory to pharmacological approaches. Clinical experience supports the use of electroconvulsive therapy (ECT) in mixed states, but there is little information on its effectiveness in scientific literature.

Report our experience in using acute phase ECT (aECT) in mixed states.

The authors reviewed the clinical records of all patients submitted to aECT between June 2006 and June 2011. The inclusion criteria were: a) presence of a mixed state according to Akiskal's criteria (Akiskal et al,2005); b) completed treatment course with aECT. The following variables were collected: demographic characteristics, previous response to pharmacotherapy, presence of psychotic symptoms, number of aECT sessions, referral to continuation or maintenance ECT (c/mECT), number of readmissions. Relation between the diagnostics and the number of ECT sessions was validated with Eta-coefficient. Comparison between these two groups was carried out with One-Way-ANOVA.

Eighteen patients met inclusion criteria and were resistant to pharmacotherapy. Eight patients had psychotic features. All patients but one showed a positive clinical response, as documented on CGI. The average number of ECT sessions was five, while the mean of ECT treatments in manic and depressive patients was seven and six respectively. Thirteen patients were scheduled for c/mECT.

Our results confirm the effectiveness of ECT in medication nonresponsive patients experiencing a mixed state.

The attention deficit is the main symptom of the Attention Deficit Hyperactivity Disorder (ADHD) in adults. This diagnosis is difficult in adults and comorbidity with substance abuse (SA) is high. As ADHD influences negatively the prognosis of the patients with SA, it is important to treat the ADHD in individuals with DS. Furthermore, it is common the use of substances to relieve ADHD and its comorbidities's symptoms.

It is known the paradoxical effect of amphetamines in individuals with ADHD and it was also described with cocaine. This characteristic is an important clinical clue to the diagnosis of ADHD and it is a predictor of a positive response to the therapeutics.

It is intended to approach the issues related to the psycopathology, differential diagnosis, prognostic and therapeutic implications when there is comorbidity between ADHD and SA in the adult.

Therapeutic implications of the comorbidity between ADHD and SA.

Analyses of a clinical case and a non-systematic review of the literature was made.

A 23-year-old woman, lawyer, has the diagnosis of ADHD since childhood. She regularly used cocaine for the last 2 years, without doing any medication, as she felt quiet, relax and focused, being more productive at work. The treatment with prolonged-release methylphenidate allowed to stop the use of cocaine without a recurrence of cognitive symptoms.

The ADHA is an independent risk factor to the SA; The early detection and treatment of ADHD helps to prevent the substance abuse;

ADHD in adults is associated with a significant impairment in many life activities increasing the risk of chronic stress in everyday life. Previous studies reported normal cortisol awakening response (CAR) in children with ADHD without comorbidities, nevertheless there is a lack of studies in adults.

The aim of the present research is to examine CAR in adults with ADHD and to assess possible differences between the combine and inattentive subtypes.

Patients were recruited from the Program for adults with ADHD in the Department of Psychiatry of the Hospital Universitari Vall d’Hebron. The clinical sample consisted of 50 adults, age between 18 and 51 years (mean 35.24 ± 9.21) fulfilling current diagnostic criteria for ADHD (DSM-IV criteria). All patients were naïve to stimulant medication. Psychiatric and organic comorbid disorders were excluded. To assess CAR, four salivary cortisol samples were collected at 0, 30, 45 and 60 minutes after awakening.

The mean increase in CAR for the whole group of patients was 10.34±8.79 nmols/l. T-test comparisons showed no significant differences in the mean increase of CAR between the inattentive (mean: 9.47±9.04 nmols/l) and combine (mean: 11.25±8.67 nmols/l) subtypes (t=0.610; z=0.546).

Despite there were no significant differences in salivary CAR between ADHD subtypes in adults, the mean increase of CAR was higher in combine than in the inattentive subtype. Salivary CAR needs to be further explored as an index of vulnerability to stress in these patients.

There are some data that suggest the existence of a dysfunction of the Hypothalamic-Pituitary-Adrenal (HPA) Axis in patients with eating disorders (anorexia nervosa –AN- and bulimia nervosa -BN-). If such a dysfunction exists, it would result in an altered cortisol response to stress.

To compare the cortisol response to stress in a group of patients with AN, BN and a control group.

Seventeen female AN patients, 17 female BN patients and 26 healthy female controls were compared. The Trier Social Stress Test (TSST) was used to induce stress. Throughout the test, seven samples of saliva were collected from each subject, and cortisol was investigated in each of the samples using radioimmunoassay (RIA).

Each group had a specific profile of cortisol release. Upon arrival at the laboratory, the AN patients had higher cortisol levels, but they quickly returned to normal values, becoming similar to those of controls. In contrast, in the BN patients the cortisol levels were at any time significantly lower than those of the AN patients and the controls, displaying a globally blunted response.

The results support the hypothesis of a dysfunctional functioning of HPA axis in patients with eatings disorders, althoug suggest that it might be particularly important in BN patients.

Supported by grants PI060974 (Plan Nacional de Investigación Científica, Desarrollo e Innovación Tecnológica [I+D+I]. FIS. Instituto Salud Carlos III. Ministerio de Sanidad, Servicios Sociales e Igualdad) and GRU09173 (Plan de Investigación Regional de Extremadura. Gobierno de Extremadura y European Social Fund).

Psychiatry wards are witness to violent behavior. Mental health professionals are called upon to prevent/deescalate potential violence.

Understand the causal factors that led to a serious group violence event in a psychiatric ward and review strategies to minimize the risk.

Provide a better understating and review current evidence.

Description of a group violence event. Non-systematic literature review concerning violence on psychiatric wards.

In a 29-bed acute closed-door mixed-gender general-hospital psychiatry ward staff had detected that a small group of patients increasingly defied instructions, refused treatment and intimidated users. Later, two of these patients, on cue from the psychotic content of another user with schizophrenia, intruded patients’ bedrooms and assaulted a 63 year-old female patient. These two patients, with bipolar disorder, were unemployed and had a history of previous psychiatric admissions, drug abuse, criminal offenses and treatment drop-out. De-escalation techniques failed and security was summoned. Offending patients were admitted to seclusion bedrooms and restrained. Upon a crisis meeting these two patients were transferred to two nearby psychiatric departments. There are several risk factors for violence in psychiatry wards, pertaining to the ward, staff, patients and psychopathology. Prevention measures are typically related to the timely detection of these variables and deescalation techniques. When these fail, seclusion, forced medication or mechanical restraint may be necessary.

This case report confirms that violence rarely erupts without warning. Additional staff training on violence prevention and tackling is required. Some variables (e.g. overcrowding) are current structural weaknesses of the health system.