bluuebunny/crossref_metadata_2025_split huggingface dataset:
Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings
Authors: Cook Lola , Schulze Jeanine 
Published: June 2017

AbstractThere are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al., The Israel Medical Association Journal: IMAJ, 16(11), 723–724, 2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease. Parkinson disease is, in part, caused by the same mutations in the GBA gene that lead to Gaucher disease, and the two conditions are thought to have shared pathophysiology. Briefly reviewed are how these two diseases historically became linked, where their paths cross, potential problems and considerations in disclosure of the link, and current guidelines and research in this area. Genetic counseling experience with a large Parkinson disease cohort is used as a starting point to question the state of clinical and nonclinical practice in disclosing this unusual connection We conclude that more research and discussion are needed to inform practice regarding the crossroads of Gaucher and Parkinson disease.
Social Media and E-mental Health
Authors: Krausz M. 
Published: June 2017

Mental health services worldwide are only able to serve a minority of patients. Expert advice is in most cases not accessible even in developed countries with a functioning mental health care system. Threshold to care are high and the time between first critical developments and symptoms and first professional interventions is long, sometimes several years.The evolving communication tools through social media and web-based services may provide new and exciting opportunities to change that. Especially young people have a different approach to interact, learn and access services through the Internet. The momentum there is as crucial as it is in education. Our mental health care system in all its components will most likely very different than today. E mental health will be an integrated component contributing to more capacity, higher quality of care and better accessibility.What is the key in developing new tools and what can today's clinicians and researchers do to be an active partner in this process? What are the major concerns and how should we address them also as professional organization? This may be an opportunity of a lifetime for a paradigm shift. Its success relates to good integration and implementation of these exciting tools to create a new continuum of tools addressing a continuum of needs.Disclosure of interestThe author has not supplied his declaration of competing interest.
VTA-insula Connectivity and Avolition in Subjects with Schizophrenia
Authors: Mucci A. , Giordano G.M. , Stanziano M. , Papa M. , Galderisi S. 
Published: June 2017

IntroductionAvolition represents an important domain of negative symptoms in schizophrenia with a strong impact on functional outcome. Primary and persistent avolition is refractory to available pharmacological and psychological treatments. A better understanding of its pathophysiological mechanisms is fundamental to promote development of new treatments. Recent models of avolition converge on dopaminergic circuits involved in motivation and its translation in goal-directed behavior. Deficits in task-related activation or connectivity within mesolimbic and mesocortical dopamine circuits were reported in schizophrenia but the relationship with avolition was not fully established.AimsThe present study aimed to investigate resting-state functional connectivity (RS-FC) within the motivation circuits in schizophrenia patients and its relationships with primary and persistent avolition.MethodsRS-FC, using VTA as a seed region, was investigated in 22 healthy controls (HC) and in 26 schizophrenia patients (SCZ) divided in high (HA) and low avolition (LA) subgroups. Avolition was assessed using the Schedule for the Deficit Syndrome.ResultsHA, in comparison to LA and HC, showed significantly reduced RS-FC with the right ventrolateral prefrontal cortex (R-VLPFC), right insula (R-INS) and right lateral occipital cortex (R-LOC). The RS-FC of these regions was negatively correlated to avolition.ConclusionsOur findings demonstrate that avolition in schizophrenia is linked to dysconnection of VTA from key cortical regions involved in retrieval of outcome values of instrumental actions to motivate behavior.Disclosure of interestAM received honoraria or advisory board/consulting fees from the following companies: Janssen Pharmaceuticals, Otsuka, Pfizer and Pierre Fabre. SG received honoraria or advisory board/consulting fees from the following companies: Lundbeck, Janssen Pharmaceuticals, Hoffman-La Roche, Angelini-Acraf, Otsuka, Pierre Fabre and Gedeon-Richter. All other Authors declare no potential conflict of interest.
Workplace Stress Among Non-doctor Trainees in Psychiatric Rehabilitation
Authors: Volpe U. 
Published: June 2017

Mental health care settings have long been associated to a specific and long-standing emotional involvement, eventually determining professional stress and burnout in psychiatrists. However, recent evidence demonstrated that also non-doctor mental health workers may be at high risk of developing job dissatisfaction. Previous studies also suggested that the longer exposure to psychiatric settings the higher the levels of burnout. We report here data from a survey conducted among first-year students of rehabilitation courses in psychiatry (n = 44) and logopedics (n = 39), before and after the first exposure to an health care environment over a 6-month term. We investigated their psychological wellbeing and risk of psychiatric morbidity (by means of GHQ-12), levels of burnout (with the Maslach Burnout Inventory) and knowledge about mental health (by means of the MAKS schedule). The two groups were comparable as for the main socio-demographic characteristics as well as for their knowledge about mental health before training. We found a significant difference between students in mental and general health care, with significantly higher emotional exhaustion and depersonalization and lower personal accomplishment levels in the former group, after 6-month training. Such changes were significantly correlated to variations in knowledge about mental health issues and risk of psychiatric morbidity. The implementation of a specific peer support group was perceived as extremely useful by the majority of the students (96%) and had a positive impact on their burnout levels and psychological wellbeing.Disclosure of interestThe author has not supplied his declaration of competing interest.
Exercise Interventions for Improving Mental and Physical Health in Schizophrenia
Authors: Malchow B. 
Published: June 2017

Schizophrenia is a severe mental disorder that carries a high personal and socio-economic burden. Especially negative symptoms and cognitive impairments affect the long-term outcome and are the main contributors to disability. An often underestimated aspect of the disease are somatic comorbidities and the very high mortality rates of those with the disorder. The life expectancy is approximately 20 years below that of the general population and there is evidence that persons with schizophrenia may not have seen the same improvement in life expectancy as the general population during the past decades. Among others, lifestyle factors like sedentary behaviour, unhealthy diet, body weight and tobacco smoking are considered modifiable risk factors contributing to this excess mortality. Exercise interventions may be useful not only in attenuating symptoms of the disease but as well in help reducing risk factors for somatic comorbidities.Disclosure of interestThe author has not supplied his declaration of competing interest.
Impact of Age at Onset on the Long-term Course of Bipolar Disorder
Authors: Kupka R. 
Published: June 2017

IntroductionBipolar disorder (BD) typically starts in adolescence or young adulthood (early-onset; EO-BD), which may have different backgrounds and consequences than late-onset (LO) BD. There are controversies over pre-pubertal age of onset (AoO).ObjectivesTo give an overview of the various concepts of AoO in BD, the impact of AoO on subsequent illness course, and findings of the Stanley Foundation Bipolar Network (SFBN) with relationship to AoO.Methodsliterature review and additional analyses of SFBN database.ResultsBD usually begins with a depressive episode. SFBN-data reveal that an earlier AoO is associated with a less favourable prospective illness course (more depression, mood instability and rapid cycling), longer delay to first treatment, past history of suicide attempts, being abused in childhood abuse, more psychiatric and medical comorbidities. Comparison of the US sample with the European sample of SFBN showed an earlier onset in US patients.Conclusionand early AoF of BD is associated with a poorer long-term outcome, despite adequate current treatment.Disclosure of interestThe author has not supplied his declaration of competing interest.
Mania and Depression: What's New?
Authors: Fagiolini A. , Amodeo G. 
Published: June 2017

Despite the high burden of bipolar disorder and the noticeable progress in its treatment, the disorder still goes frequently misdiagnosed, unrecognized, or not optimally treated. To date, no medication has been specifically developed on the basis of a precise understanding of the pathophysiology of the disorder, or based on the unique characteristics of several subtypes of bipolar disorder or on the medication mechanism of action. Lithium remains on of the gold standard treatments for bipolar disorder. Its mood-stabilizing properties are thought to occur via specific cellular signaling pathways, such as inhibition of glycogen synthase kinase 3, which is considered to regulate cellular apoptosis. Divalproex, carbamazepine and several atypical antipsychotics are also approved for bipolar disease Evidence also suggests that antipsychotics show the ability to treat and prevent mania and/or depression but are often burdened by side effects such as sedation, hortostatic hypotension and weight gain. Hence, while it is clear that there still are several unmet needs especially for what pertains tolerability, efficacy for specific subtypes, and predictability. Novel and more effective treatments are needed and researchers are currently engaging in targeted drug development for bipolar illness, aimed at improving pharmacological strategies with marked and sustained effects. A variety of newer medications are being tested. Some of these drugs target pathways that are similar to those targeted by lithium, while others focus on newer targets, such as opiate receptor and N-methyl-D-aspartate (NMDA) receptors. Newer and older treatment strategies for bipolar disorder will be presented and critically reviewed.Disclosure of interestAndrea Fagiolini is/has been a consultant and/or a speaker and/or has received research grants from Allergan, Angelini, Astra Zeneca, Boehringer Ingelheim, Pfizer, Eli Lilly, Ferrer, Janssen, Lundbeck, Novartis, Otsuka, Roche.
Managing Cognitive Dysfunction in Bipolar Disorder
Authors: Miskowiak K. 
Published: June 2017

Cognitive dysfunction, including memory and concentration difficulty, is an emerging treatment target in bipolar disorder. However, a key challenge in the management of these cognitive deficits is the lack of treatments with robust effects on cognition. Further, it is unclear how cognitive dysfunction should be assessed and addressed in the clinical treatment of the disorder. This talk will review the evidence for cognitive impairment in bipolar disorder, including its severity, persistence and impact on patients’ functional recovery. It will then discuss when and how to assess cognition and present some new feasible screening tools for cognitive dysfunction. Finally, it will highlight some novel candidate cognition treatments.Disclosure of interestI have acted as a consultant and received honoraria from Lundbeck and Allergan.
Mental Health Paraprofessional Training for Filipina Foreign Domestic Workers in Singapore: Feasibility and Effects on Knowledge About Depression and Cognitive Behavioral Therapy Skills
Authors: Wong M.H.M. , Keng S.L. , Buck P.J.B. , Ostbye T. , Wessels A. , Suthendran S. 
Published: June 2017

IntroductionApproximately one in every five Singaporean households employs Foreign Domestic Workers (FDWs) (Humanitarian Organization for Migration Economics [Home], 2015). Mental health problems, especially depression, are prevalent among FDWs in Singapore (HOME, 2015). Yet, there is a lack of empirically-supported interventions to address their mental health needs.ObjectiveTo train FDWs as mental health paraprofessionals with selected CBT skills for depression, which may enable them to provide basic assistance to their fellow domestic workers with depressive symptoms.AimsTo present and assess the effectiveness and acceptability of a 4 weekly 3-hour group CBT-based paraprofessional training program for FDWs.MethodsParticipants were randomized into either an intervention or a wait-list control group. Participants in the wait-list group received the training after the intervention group completed the training. Both groups completed questionnaires assessing attitudes towards seeking psychological help; stigma towards people with depression; self-confidence in delivering CBT; general self-efficacy; knowledge of depression and CBT before, immediately after, and two months following the training.ResultsThirty-eight out of 40 participants completed the program. Both groups did not differ on changes in any of the outcome variables. However, within-group analyses showed improved attitudes towards seeking professional health for mental health issues; greater depression literacy; and CBT knowledge following the training. These changes were sustained at 2-month follow-up. All participants indicated high level of satisfaction with the program.ConclusionsThese preliminary results highlight the potential effectiveness and feasibility of implementing the training as a stepped-care mental health service to address the high rate of depression among the FDW community.Disclosure of interestThe authors have not supplied their declaration of competing interest.
Major Depressive Disorder Comorbid Severe Hydrocephalus Due to Arnold Chiari Malformation in an Apathetic Patient
Authors: Kandeger A. , Guler H.A. , Guler O. 
Published: June 2017

ObjectiveArnold Chiari Malformation (ACM) is a disorder of embryologic development that is characterized of herniation of the cerebellar structures through the foramen magnum by four types. ACM type 1 (ACM 1) consists in cerebellar tonsil herniation, which is sometimes associated with other abnormalities, including syringohydromyelia, hydrocephalus and skull base alterations. To date, five cases of psychiatric disorders comorbid with ACM-I have been reported. We here present an apathetic patient have delayed diagnosis ACM-I and severe hydrocephalus and comorbid major depressive disorder.CaseA 36-year-old, male patient who is married and two children, was admitted to hospital with don’t want to make anything, despondency, thoughts of have an incompetency, uselessness and want to death, tiredness, weakness complaints which are increased day by day last 2 months. He was diagnosed with major depression after the psychiatric evaluation and hospitalised. He has unwillingness, tiredness and headache complaints which are started when he was 20 years old and he used antidepressant, anxiolytic, and low dose anthipsycotic drugs under psychiatrist control at this years. In radiologic evaluation, Arnold Chiari type 1 and severe hydrocephalus was detected in brain magnetic resonance imaging.DiscussionACM 1 is related to hydrocephalus as a result of posterior fossa hypoplasia and causes spinal injury by obstruction to cerebrospinal fluid (CSF) flow at the foramen magnum. Apathy is a common yet often overlooked symptom in hydrocephalus. This symptom may be a significant obstacle for cognition and quality of life and is associated with increased level of depression.Disclosure of interestThe authors have not supplied their declaration of competing interest.
Theoretical Background of Human Based Psychiatry
Authors: Musalek M. 
Published: June 2017

Every medical intervention is embedded in the prevailing spirit of its particular time. The world of modern medicine that is still shaped by positivism is often revered as a world of rational calculation and reason, a world in which mathematical calculation and so-called objectivity are prized above all else. Indeed, today's modern medicine in general and its battlewagon evidence-based medicine is a world of sober number games, reduction and fragmentation, of demystification and de-subjectification. As important and indispensable the achievements of EbM are, it nevertheless needs to be expanded by a medicine, which focuses not just on illness and its treatment but which places the concrete individual with all his or her sufferings and potentials. Such a human-based medicine (HbM) is no longer indebted to modern positivism, but seeks its foundations in the maxims of post-modernism. Moving away from classical “indication-based medicine” toward a medicine based on human sufferings and potentials necessarily requires a fundamental change in diagnostics and treatment.Disclosure of interestThe author has not supplied his declaration of competing interest.
Psychotic Symptoms in Patients with Nmda Antibodies
Authors: Fourcade J. Cru. , Poggio M. Garcia , Aragón R. Martín , Domenjó A. Muñoz , Cambra R. Molina 
Published: June 2017

IntroductionThis paper is a review of literature about the relation in some cases between psychotic symptoms and NMDA antibodies. Most of these cases are early observed and treated by psychiatry, observing torpid evolution and symptoms that are rarely observed in Psychiatry patients, like visual hallucinations or rapid fluctuations of symptoms.ObjectivesMake a review of psychotic symptoms and NMDA antibodies, to think about other options when we are in front of some unusual cases in psychiatry, and it seems that “nothing is working”MethodsSystematic review of pub med literature, applying the keywords: “psychotic” and “NMDA antibodies” of last 5 years.ResultsWe found that in most of cases the patients presents Opisthotonus, catatonia, and rhythmic and non-rhythmic involuntary movements of the mouth and jaw, and most of them had a psychiatric evaluation for those symptoms. There was no response to antipsicotic treatment. The treatment with corticoids and rituximab was effective.ConclusionsIn psychiatry we have to think in some cases that maybe “the patient could have something else than a psychiatric disease”, most when we found that the symptoms has a rare presentation and the treatment is not effective.We encourage our colleagues to “think outside the box” when something like this occurs, and hesitate about our own valuations of the patients, when the case is atypical strange.Disclosure of interestThe authors have not supplied their declaration of competing interest.
I Don't Recycle! An Organic Hoarding Disorder
Authors: Garcia Ayala L. , Gomez Revuelta M. , Martin Requena C. , Garcia de Acilu E. Saez de Adana , Porta Olivares O. , Juncal Ruiz M. , Nuñez Morales N. , Zubia Martin M. , Laborde Zufiaurre M. , Gonzalez Hernandez B. , Aranzabal Itoiz A. , Lopez Peña M.P. , Gonzalez-Pinto Arrillaga A.M. 
Published: June 2017

IntroductionHoarding often occurs without the presence of obsessive-compulsive disorder (OCD), showing distinguishable neuropsychological and neurobiological correlates and a distinct comorbidity spectrum. Furthermore, it presents itself secondarily to other psychiatric and neurobiological disorders. Therefore hoarding disorder has been included as independent diagnosis in DSM-5.ObjectivesWe aim to expose the possible organic etiology of a hoarding disorder case with atypical presentation.Materials and methodsWe present a case of a 48 years old male patient who was brought to the hospital by the police after being reported for unhealthy conditions in his home. In the home visit paid by the Social Services an excessive hoarding of objects and trash was detected. A possible hoarding disorder was diagnosed in the psychiatric assessment. Among other diagnostic test, a brain CT was conducted, in which a frontal meningioma was identified. After surgical treatment, hoarding symptoms diminished significantly.DiscussionA significant part of the hoarding disorders are attributed to primary psychiatric disorders, resulting in potentially treatable organic pathology going unnoticed.ConclusionIt's important to rule out organic etiology before proceeding to make a definitive hoarding disorder diagnosis, optimizing that way the treatment options.Disclosure of interestThe authors have not supplied their declaration of competing interest.
“The Old Lady and the Dead Bird”–A Case of Very-late-onset Schizophrenia-like Psychosis
Authors: Covelo V. , Marinho M. , Machado A.S. , Rebelo J. , Moreira R. 
Published: June 2017

IntroductionIn 1943, Bleuler defined “late-onset schizophrenia” as a form of schizophrenia with onset after the age of 40. Half a century had passed with no consensus on the late psychosis’ terminology, when in 1998 the international late- onset schizophrenia group Consensus proposed a nosology for these disorders: late-onset schizophrenia and very-late-onset schizophrenia-like psychosis.ObjectivesPresentation of a case and diagnostic discussion.MethodsInterviews with the patient during his hospitalisation.ResultsWe present a case of a 73-year-old single woman, with no psychiatric history, who was driven to the emergency department by her relatives when they noticed her bizarre behaviour: she had drowned and strangled her pet bird. At examination she was agitated, had persecutory delusions, thought broadcasting, cenesthetic and auditory hallucinations in the form of a masculine voice, who sang and dialogued with her. Symptoms had evolved during the past six months with no apparent functional impairment. During hospitalisation she was treated with risperidone (up to 5 mg/day) with improvement in a few days. There were no significant abnormalities on cerebral tomography and analytical exams. Neuropsychological evaluation ruled out cognitive deficits. At the time of discharge although the patient kept referring auditory hallucinatory activity, she had an appropriate behaviour, and no evidence of negative symptoms.ConclusionsThe small group of patients who meet schizophrenia's criteria for the first time at a later age present some particular clinical characteristics to be taken into account. This case highlights some of them, drawing attention to this uncommon diagnosis.Disclosure of interestThe authors have not supplied their declaration of competing interest.