The role of psychosis and clozapine load in excessive checking in treatment-resistant schizophrenia: longitudinal observational study.

Background: A significant proportion of people with clozapine-treated schizophrenia develop 'checking' compulsions, a phenomenon yet to be understood.

Aims: To use habit formation models developed in cognitive neuroscience to investigate the dynamic interplay between psychosis, clozapine dose and obsessive-compulsive symptoms (OCS).

Method: Using the anonymised electronic records of a cohort of clozapine-treated patients, including longitudinal assessments of OCS and psychosis, we performed longitudinal multi-level mediation and multi-level moderation analyses to explore associations of psychosis with obsessiveness and excessive checking.

Clozapine-related obsessive-compulsive symptoms and their impact on wellbeing: a naturalistic longitudinal study.

Background: Obsessive-compulsive symptoms (OCS) are commonly associated with clozapine treatment but are frequently overlooked by clinicians despite their potential impact on patients' quality of life. In this study, we explored whether OCS severity impacted subjective wellbeing and general functioning, independently of depressive and psychotic symptoms.

Methods: We used anonymised electronic healthcare records from a large cohort of patients who were treated with clozapine and assessed annually for OCS, wellbeing, general functioning, and psychopathology using standardised scales as part of routine clinical practice.

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.

Background: Hyperammonaemia is a key sign of decompensation in organic acidurias (OAs) and can contribute to severe neurological complications, thus requiring rapid treatment.

Methods: A post-hoc analysis of two retrospective studies analysed the efficacy of carglumic acid ± ammonia (NH) scavengers compared with scavengers alone for reducing plasma NH levels in patients with OAs and hyperammonaemia (plasma NH > 60 μmol/L) during decompensation episodes. NH was analysed in 12-h periods at 0-48 h and 24-h periods at 48-120 h.

End user evaluation of DG-PT L Rec, a human recombinant thromboplastin in liquid formulation.

The objective is to evaluate Grifols' DG-PT L Rec liquid reagent for prothrombin time (PT) determination in comparison to the laboratory's reference reagent (Siemens' Thromborel S). For linearity, the average master curve for PT and five nominal prothrombin concentrations was obtained from five calibration curves. Within-assay precision (repeatability) was calculated after measuring 20 successive tests of normal and pathological controls.

Angelman syndrome and isovaleric acidemia: What is the link?

We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of IVA should be discussed.

Abnormal Frontostriatal Activity During Unexpected Reward Receipt in Depression and Schizophrenia: Relationship to Anhedonia.

Alterations in reward processes may underlie motivational and anhedonic symptoms in depression and schizophrenia. However it remains unclear whether these alterations are disorder-specific or shared, and whether they clearly relate to symptom generation or not. We studied brain responses to unexpected rewards during a simulated slot-machine game in 24 patients with depression, 21 patients with schizophrenia, and 21 healthy controls using functional magnetic resonance imaging.

Reduction in ventral striatal activity when anticipating a reward in depression and schizophrenia: a replicated cross-diagnostic finding.

In the research domain framework (RDoC), dysfunctional reward expectation has been proposed to be a cross-diagnostic domain in psychiatry, which may contribute to symptoms common to various neuropsychiatric conditions, such as anhedonia or apathy/avolition. We used a modified version of the Monetary Incentive Delay (MID) paradigm to obtain functional MRI images from 22 patients with schizophrenia, 24 with depression and 21 controls. Anhedonia and other symptoms of depression, and overall positive and negative symptomatology were also measured.

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting, dehydration, and elevated transaminases. They had frequent infections, hypogammaglobulinemia, reduced natural killer cells, and the Pelger-Huët anomaly of their granulocytes.

Brain structural signatures of negative symptoms in depression and schizophrenia.

Negative symptoms occur in several major mental health disorders with undetermined mechanisms and unsatisfactory treatments; identification of their neural correlates might unveil the underlying pathophysiological basis and pinpoint the therapeutic targets. In this study, participants with major depressive disorder (n = 24), schizophrenia (n = 22), and healthy controls (n = 20) were assessed with 10 frequently used negative symptom scales followed by principal component analysis (PCA) of the scores. A linear model with the prominent components identified by PCA was then regressed on gray and white-matter volumes estimated from T1-weighted magnetic resonance imaging.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Background: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data.

Brief cognitive assessment instruments in schizophrenia and bipolar patients, and healthy control subjects: a comparison study between the Brief Cognitive Assessment Tool for Schizophrenia (B-CATS) and the Screen for Cognitive Impairment in Psychiatry (SCIP).

Cognitive impairment in schizophrenia and psychosis is ubiquitous and acknowledged as a core feature of clinical expression, pathophysiology, and prediction of functioning. However, assessment of cognitive functioning is excessively time-consuming in routine practice, and brief cognitive instruments specific to psychosis would be of value. Two screening tools have recently been created to address this issue, i.

Neurocognitive diagnosis and cut-off scores of the Screen for Cognitive Impairment in Psychiatry (SCIP-S).

Objectives: To demonstrate the ability of the Screen for Cognitive Impairment in Psychiatry (SCIP-S) to discriminate between cognitively-impaired individuals and those with adequate functioning in a sample of schizophrenic and bipolar patients, as well as in a control group.

Methods: The SCIP-S, together with a full neuropsychological battery, was administered to three groups: patients with schizophrenia, patients diagnosed with bipolar disorder I, and controls. The battery scores were used to perform a standardization with respect to the control group and this served to determine the comparison groups (cognitively impaired versus unimpaired) for each of the subtests of the SCIP-S.

Clinical usefulness of the screen for cognitive impairment in psychiatry (SCIP-S) scale in patients with type I bipolar disorder.

Background: The relevance of persistent cognitive deficits to the pathogenesis and prognosis of bipolar disorders (BD) is understudied, and its translation into clinical practice has been limited by the absence of brief methods assessing cognitive status in Psychiatry. This investigation assessed the psychometric properties of the Spanish version of the Screen for Cognitive Impairment in Psychiatry (SCIP-S) for the detection of cognitive impairment in BD.

Methods: After short training, psychiatrists at 40 outpatient clinics administered the SCIP three times over two weeks to a total of 76 consecutive type I BD admissions.

Somatosensory amplification in schizophrenia is associated with preserved neuropsychological function.

Background: Some alexithymic features are similar to negative symptoms of schizophrenia, while somatosensory amplification has been defined as an abnormal perceptual style that could be related to hallucinations and positive schizophrenic symptoms. This study analyzed whether both psychological constructs are related to the type of clinical symptoms and to the neuropsychological performance of patients with schizophrenia.

Methods: Thirty-seven patients with schizophrenia were assessed psychologically (20-item Toronto Alexithymia Scale and Somatosensory Amplification Scale), clinically, and neuropsychologically and were compared with a control group of healthy subjects (n= 37).

Cerebellar deficits in schizophrenia are associated with executive dysfunction.

Cerebellar abnormalities have been documented in schizophrenia in postmortem, functional and volumetric neuroimaging studies. This study aims to establish the relationship between structural changes in the cerebellum and executive dysfunction in patients with schizophrenia using voxel-based morphometry. We compared 28 outpatients with 28 healthy controls.

Spanish version of the Screen for Cognitive Impairment in Psychiatry (SCIP-S): psychometric properties of a brief scale for cognitive evaluation in schizophrenia.

Objective: The Screen for Cognitive Impairment in Psychiatry (SCIP) is a brief scale designed for detecting cognitive deficits in several psychotic and affective disorders. This study examined the psychometric properties of the Spanish version of the SCIP in a sample of outpatients suffering schizophrenia-spectrum disorders.

Methods: Psychometric properties were evaluated in a sample of 126 stable patients with schizophrenia.

Left posterior hippocampal density reduction using VBM and stereological MRI procedures in schizophrenia.

Structural deficits in the hippocampus have been implicated in the pathophysiology of schizophrenia. However the role played by structural impairments in the hippocampus in the memory deficits of schizophrenic patients remains unclear. Magnetic resonance imaging was used in this study to investigate left, right, anterior and posterior hippocampal volume and density in 28 schizophrenic patients and 33 normal controls.