Dysferlin quantification in monocytes for rapid screening for dysferlinopathies

Introduction: In this study, we determined normal levels of dysferlin expression in CD14⁺ monocytes by flow cytometry (FC) as a screening tool for dysferlinopathies. Methods: Monocytes from 183 healthy individuals and 29 patients were immunolabeled, run on an FACScalibur flow cytometer, and analyzed by FlowJo software. Results: The relative quantity of dysferlin was expressed as mean fluorescence intensity (MFI). Performance of this diagnostic test was assessed by calculating likelihood ratios at different MFI cut‐off points, which allowed definition of 4 disease classification groups in a simplified algorithm. Conclusion: The MFI value may differentiate patients with dysferlinopathy from healthy individuals; it may be a useful marker for screening purposes. Muscle Nerve 54 : 1064–1071, 2016     

Evidence for sex differences in right-hemisphere dominance for emotions

Discriminative reaction times to the six emotions that can more reliably be recognised in the human face were measured in 24 normal subjects (12 males and 12 females). Stimuli appeared to the right or the left of fixation point and the subject discriminated target from non-target emotions by a motor response. In the case of female subjects responses were faster with left visual field presentation, indicating a right hemisphere superiority in the discrimination. In the case of male subjects no consistent lateral asymmetry was found.     

Psychiatric disorders in candidates for surgery for epilepsy.

BACKGROUND--Current evidence indicates that, on their own, neither flash visual evoked responses (FVEPs) nor event related potentials (ERPs) are sufficiently useful to the clinician in the very early stages of memory dysfunction. However, the possibilities for the combined use of these measures has not been fully explored. METHODS--This study examined the clinical utility of combined FVEP and ERP-P300 component latencies as predictive markers in 16 patients with Alzheimer''s disease, 15 patients with depression, and 21 control subjects. RESULTS--There were significant group differences in FVEP P2 latency (P = 0.004) between the controls and both the depressive patients and those with very mild Alzheimer''s disease. There were no statistically significant group differences for the ERP component (N2/P300) amplitudes or latencies. The P300 component latency was positively correlated with both the FVEP N2 and FVEP P2 component latencies in the patients with Alzheimer''s disease but not in the control subjects or the depressed patients. A discriminant function, using two ERP and two FVEP component measures, gave an overall correct classification rate for dementia of 78%. In this study of very mildly impaired patients the FVEP latencies provided a more sensitive marker for the presence of cognitive dysfunction than P300 latency delay. CONCLUSIONS--The findings support the use of multimodal evoked potentials in the differential diagnosis of very mild Alzheimer''s disease and normal aging.     

Psycho-social determinants for psychiatric hospitalisation for neurotic disorders in women

Background: Much has been written about the determinants of psychiatric hospitalisation, chiefly for psychotic patients in an emergency. This paper reports the results of a comparative study between in-patients and pathological subjects from the general population. The aim of this work is to evidence the psycho-social determinants of hospitalisation in a psychiatric department for neurotic disorders. Methods: This study was conducted on a socially fairly privileged population which was, therefore, also fairly homogeneous. The subjects from the two groups were assessed clinically using standardised instruments both for diagnosis (SCAN) and for psycho-social variables (Stressful Life Events: LEDS; Social Support and Self-esteem: Pearlin checklist; care itinerary). Results: Following the analysis of frequency and a multivariate logistic regression analysis, four risk factors for hospitalisation for neurotic disorders were evidenced, including: severity of neurotic disorders, taking a long time to consult a specialist after first onset of anxiety disorders, poor social support, and having experienced one or more provoking agents (Brown and Harris methodology) in the year previous to hospitalisation. Conclusion: The severity of the mental pathology is largely responsible for hospitalisation in neurotic patients as it is in psychotic patients, but it is not the only determinant for hospitalisation. Accepted: 1 December 2002     

Contralateral MRI abnormalities in candidates for hemispherectomy for refractory epilepsy

Purpose: To assess the impact of contralateral magnetic resonance imaging (MRI) findings on seizure outcome after hemispherectomy for refractory epilepsy. Methods: We retrospectively reviewed 110 children, 0.4–18 (median 5.9) years of age, who underwent hemispherectomy for severe refractory epilepsy at Cleveland Clinic Children’s Hospital. In children with contralateral (as well as ipsilateral) MRI findings appreciated preoperatively, the decision to proceed to surgery was based on other features concordant with the side with the most severe MRI abnormality, including ipsilateral epileptiform discharges, lateralizing seizure semiology, and side of hemiparesis. Results: We retrospectively observed contralateral MRI abnormalities (predominantly small hemisphere, white matter loss or abnormal signal, or sulcation abnormalities) in 81 patients (74%), including 31 of 43 (72%) with malformations of cortical development (MCD), 31 of 42 (73%) with perinatal injury from infarction or hypoxia, and 15 of 25 (60%) with Rasmussen’s encephalitis, Sturge‐Weber syndrome, or posttraumatic encephalomalacia. Among 84 children (76%) with lesions that were congenital or acquired pre‐ or perinatally, 67 (83%) had contralateral MRI abnormalities (p = 0.02). Contralateral findings were subjectively judged to be mild or moderate in 70 (86%). At follow‐up 12–84 (median 24) months after surgery, 79% of patients with contralateral MRI abnormalities were seizure‐free compared to 83% of patients without contralateral MRI findings, with no differences based on etiology group or type or severity of contralateral MRI abnormality. Discussion: MRI abnormalities, usually mild to moderate in severity, were seen in the contralateral hemisphere in the majority of children who underwent hemispherectomy for refractory epilepsy due to various etiologies, especially those that were congenital or early acquired. The contralateral MRI findings, always much less prominent than those in the ipsilateral hemisphere, did not correlate with seizure outcome and may not contraindicate hemispherectomy in otherwise favorable candidates.     

Psychological distress in applicants for genetic screening for colorectal cancer

Introduction. The development of a DNA based diagnostic test has allowed for the genetic screening of many hereditary diseases. In addition to the identification of the deleterious gene, this screening process has led to the recognition of developing illnesses at high risk. In recent years, a number of genes predisposing to an inherited cancer syndrome have been identified. AIM OF THE STUDY: Our purpose in this study was to determine whether subjects at risk who test for inherited colorectal cancer, are likely to develop a higher level of psychological distress than the norm, taking into consideration the particular history of this familial disease. METHODS: The demographic and psychosocial aspects of our population was described using: 1) the State Trait Anxiety Inventory (STAI), 2) the Center for Epidemiologic Studies Depression (CES-D), 3) a perceived risk for the gene carrier, 4) subjective perception of personal vulnerability and 5) the role of the medical status (affected or not), which places the subject in either predisposition or predictive testing. RESULTS: Results show that our population had a higher predisposition for depressive disorders (chi2=9,3. p=0.002) and a significantly higher state of anxiety (chi2=9,3. p=0.002), prior to genetic counselling, compared with other populations. We found no evidence in the medical status, nor the perceived risk. However, the assessment of one's own personal vulnerability is related to psychological distress. DISCUSSION: These results highlight the particular vulnerability of subjects undergoing genetic testing as well as showing the pertinence of proposing psychological help throughout the process of these new specific diagnoses.     

Need for systematic screening for IGD in adolescent psychiatric inpatients

Psychiatric comorbidities are frequent in adolescents with internet gaming disorder (IGD). In contrast, the proportion of IGD among adolescents hospitalized for a psychiatric disorder has not been documented yet. In addition, parental ratings of IGD could be useful for diagnosis, but very few data exist on this issue. The objectives of this study were to: (1) assess the prevalence of IGD among adolescent psychiatric inpatients, using the Ten-Item Internet Gaming Disorder Test (IGDT-10), and (2) assess the parental version developed for this study (IGDT-10-P). A total of 102 patients, aged from 12 to 17 years old, were included from four psychiatric units of the French region Auvergne-Rhône-Alpes, during a 6-month inclusion period. Adolescents completed the IGDT-10 while one of their parents completed the IGDT-10-P. The inclusion rate among the eligible population was 57.95%. The prevalence of IGD in the sample, based on the IGDT-10 and IGDT-10-P, was 6.00% and 12.79%, respectively. Psychometric features of the IGDT-10-P indicated excellent internal consistency, a good model fit to the one factor model in confirmatory factor analysis, a strong correlation with gaming time, and a moderate correlation with the IGDT-10. Our results support the need for a systematic screening of IGD among adolescents hospitalized for a psychiatric disorder. Future studies should aim to confirm and explain the prevalence gap between self- and parent-reported criteria.     

Agnosia for scenes in topographagnosia

Topographagnosia is most commonly attributed to an agnosia for landmarks. In order to define the nature of this agnosia, we studied a patient with isolated topographic disorientation (TD) after a stroke in the right medial occipitotemporal region. The patient got lost in familiar environments but could readily read and draw maps, describe familiar routes, and provide correct directions. He had normal perceptual test performance and met criteria for topographagnosia rather than for other forms of topographic disorientation. Two ecologically valid route tests assessed the nature of his agnosia. On a familiar route, he could recognize major landmarks. He could not, however, recognize route configurations made up of combinations of visual features each lacking individual distinctiveness. On a test of route learning, he learned landmarks that differed in minor details and could use them to orient himself along a route. He had difficulty, however, recognizing and learning scenes lacking salient landmarks. This agnosia for scenes was worse for semantically-related environments, but improved with semantic knowledge such as street names. In addition, the patient lacked overt prosopagnosia but tended toward semantic errors in the recognition of famous faces. Together these findings suggest that this patient's inability to recognize a route resulted from an inability of intact perceptual units for scenes, composed of specific visual configurations of individually indefinite features, from accessing stored representations.     

Consultations for research in suicidology

Abstract

Science means research. Current research in suicidology, however, needs development. Therefore, a task force was established by the International Academy for Suicide Research (IASR) to make recommendations for future study of suicide. These consultations are offered only as current thoughts to assist, not only in research, but also to aid in preventing suicide.     

Consultations for research in suicidology

Science means research. Current research in suicidology, however, needs development. Therefore, a task force was established by the International Academy for Suicide Research (IASR) to make recommendations for future study of suicide. These consultations are offered only as current thoughts to assist, not only in research, but also to aid in preventing suicide.     

Sonothrombolysis in acute ischemic stroke for patients ineligible for rt-PA

The authors studied the effect of transcranial ultrasound on patients with acute middle cerebral artery occlusion and contraindications for thrombolysis. Fifteen consecutive subjects were randomized for insonation over 1 hour or for inclusion in a control group. By day 4, recanalization and neurologic improvement occurred more frequently in the target group. Ultrasound-induced acceleration of clot dissolution may be an option for patients with contraindications for recombinant tissue plasminogen activator.     

A role for the thalamus in memory for unique entities

Recent case studies of amnesic patients have yielded patterns of impairment that challenge Tulving's (1972) division of retrograde memory into two categories (namely, episodic and semantic memory). Here we describe a patient (JG) who developed partially blocked access to previously stored knowledge following the onset of a medial thalamic infarction. Having previously demonstrated that JG has a dense, pervasive amnesia for autobiographical material, famous people and famous events (Miller et al. , 2001), in this study, we show that he is unable to access information about unique entities across a range of domains. In contrast, his memory for more general semantic knowledge (such as word meanings) is intact. JG's memory impairment is discussed in the context of a model of neural functioning put forward by Damasio (1990), in which it was proposed that recall of unique entities depends on many cortical regions being activated in synchrony. This activity, thought to be triggered and coordinated by anterior temporal and frontal lobe regions is, in turn, modulated by projections from the thalamus. We propose that JG's thalamic lesion has disrupted the coordination of the diffuse cortical networks necessary to generate highly specific memories from the past, be they episodic or semantic.     

A Role for the Thalamus in Memory for Unique Entities

Recent case studies of amnesic patients have yielded patterns of impairment that challenge Tulving’s (1972) division of retrograde memory into two categories (namely, episodic and semantic memory). Here we describe a patient (JG) who developed partially blocked access to previously stored knowledge following the onset of a medial thalamic infarction. Having previously demonstrated that JG has a dense, pervasive amnesia for autobiographical material, famous people and famous events (Miller et al., 2001), in this study, we show that he is unable to access information about unique entities across a range of domains. In contrast, his memory for more general semantic knowledge (such as word meanings) is intact. JG’s memory impairment is discussed in the context of a model of neural functioning put forward by Damasio (1990), in which it was proposed that recall of unique entities depends on many cortical regions being activated in synchrony. This activity, thought to be triggered and coordinated by anterior temporal and frontal lobe regions is, in turn, modulated by projections from the thalamus. We propose that JG’s thalamic lesion has disrupted the coordination of the diffuse cortical networks necessary to generate highly specific memories from the past, be they episodic or semantic.     

A developmental-adaptive model for use in service-matrix planning for youth

As community services for disturbed and retarded children and their families proliferate, more focused attention should turn to early coordinated planning for the variance of normalcy and the prevention of later, more severe childhood and adolescent disorders. This paper describes a model of human development with specific emphasis on the first two decades of the life cycle. Its usefulness as an organizing instrument in community services planning, both for coordinating already present services, as well as for clarifying service areas requiring development, is the major theme. This paper should be of interest to professionals in community mental health and retardation services, as well as to community organization and administrative specialists. It could be catalytic as a vehicle for initiating discussion with local governmental systems involved in child and family health and preventive services planning.