Are experiences of psychosis associated with unhelpful metacognitive coping strategies? A systematic review of the evidence

This review investigated whether unhelpful metacognitive coping strategies, such as attentional biases, worry, rumination, and thought control, are associated with experiences of psychosis. These processes, known collectively as the Cognitive Attentional Syndrome (CAS), form a central tenet of the Self‐Regulatory Executive Function model. Three research questions based on assumptions underlying the CAS were addressed. It was predicted that processes of (a) self‐focused processing, (b) negative perseverative thinking (worry and rumination), and (c) counterproductive thought control would be associated with experiences of psychosis. A comprehensive search of the literature identified 51 eligible studies: 17 investigated self‐focused attention, 25 investigated perseverative processing (worry: n = 18; rumination: n = 10), and 9 investigated thought control strategies. Findings indicated that unhelpful metacognitive coping strategies associated with the CAS are related to experiences of psychosis and appear to share important relationships with distress. Implications for future research and clinical practice are discussed.     

Psychologists' judgements of diagnostic activities: deviations from a theoretical model

In this article, we describe an investigation into the diagnostic activities of practicing clinical psychologists. Two questionnaires were filled in by 313 psychologists. One group of psychologists (N = 175) judged the necessity of diagnostic activities; the other group (N = 138) selected the activities they would actually perform. Results showed that more participants thought that diagnostic activities were necessary than there were participants who intended to actually perform those activities. Causal analysis, by generating and testing diagnostic hypotheses to form an integrated client model with an explanation for the problem, was judged least necessary and would not be performed. We conclude that a discrepancy exists between the number and types of activities psychologists judged to be necessary and they intend to actually perform. The lack of attention for causal analysis is remarkable as causal explanations are crucial to effective treatment planning. Copyright © 2008 John Wiley & Sons, Ltd.     

The diagnosis and management of allergic reactions in patients sensitized to non-specific lipid transfer proteins

Sensitization to one or more non-specific lipid transfer proteins (nsLTPs), initially thought to exist mainly in southern Europe, is becoming accepted as a cause of allergic reactions to plant foods across Europe and beyond. The peach nsLTP allergen Pru p 3 is a dominant sensitizing allergen and peaches a common food trigger, although multiple foods can be involved. A frequent feature of reactions is the requirement for a cofactor (exercise, alcohol, non-steroidal anti-inflammatory drugs, Cannabis sativa) to be present for a food to elicit a reaction. The variability in the food and cofactor triggers makes it essential to include an allergy-focused diet and clinical history in the diagnostic workup. Testing on suspected food triggers should also establish whether sensitization to nsLTP is present, using purified or recombinant nsLTP allergens such as Pru p 3. The avoidance of known trigger foods and advice on cofactors is currently the main management for this condition. Studies on immunotherapy are promising, but it is unknown whether such treatments will be useful in populations where Pru p 3 is not the primary sensitizing allergen. Future research should focus on the mechanisms of cofactors, improving diagnostic accuracy and establishing the efficacy of immunotherapy.     

Obsessive‐Compulsive Disorder in the DSM‐5

Whereas the specific diagnostic criteria for obsessive‐compulsive disorder (OCD) have changed in only minor ways in the transition from DSM‐IV to DSM‐5, a more substantial change is that OCD is no longer classified as an anxiety disorder. Rather, it is now the flagship diagnosis of a new diagnostic category: the obsessive‐compulsive and related disorders (OCRDs). In this article, we describe the nature of obsessional problems as determined through empirical research before turning to a consideration of how OCD is defined in previous editions of the DSM and in DSM‐5. We then critically consider the DSM criteria, as well as the basis for removing OCD from the anxiety disorders and creating the new OCRD category. Finally, we consider the implications of these changes for clinical practice and research on OCD.     

Do we see what we think we see? The complexities of morphological assessment

Reliable pathological interpretation is vital to so many aspects of tissue‐based research as well as being central to patient care. Understanding the complex processes involved in decision‐making is the starting point to improve both diagnostic reproducibility and the definition of diagnostic groups that underpin our experiments. Unfortunately, there is a paucity of research in this field and it is encouraging to see The Journal of Pathology publishing work in this area. This review attempts to highlight the opportunities that exist in this field and the technologies that are now available to support this type of research. Key amongst these are the use of decision analysis tools such as inference networks, and virtual microscopy that allows us to simulate diagnostic decision‐making. These tools have roles, not only in studying the subtleties of diagnostic decision‐making, but also in delivering new methods of training and proficiency testing. Research which helps us to better understand what we see, why we see it, and standardizing interpretative reasoning in pathological classification is essential for improving the wide range of activities that pathologists support, including clinical diagnosis, teaching, training, and experimental research. Copyright © 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

Schwannomatosis is the third major form of neurofibromatosis and is characterized by the development of multiple schwannomas in the absence of bilateral vestibular schwannomas. The 2011 Schwannomatosis Update was organized by the Children's Tumor Foundation ( www.ctf.org ) and held in Los Angeles, CA, from June 5–8, 2011. This article summarizes the highlights presented at the Conference and represents the “state‐of‐the‐field” in 2011. Genetic studies indicate that constitutional mutations in the SMARCB1 tumor suppressor gene occur in 40–50% of familial cases and in 8–10% of sporadic cases of schwannomatosis. Tumorigenesis is thought to occur through a four‐hit, three‐step model, beginning with a germline mutation in SMARCB1 (hit 1), followed by loss of a portion of chromosome 22 that contains the second SMARCB1 allele and one NF2 allele (hits 2 and 3), followed by mutation of the remaining wild‐type NF2 allele (hit 4). Insights from research on HIV and pediatric rhabdoid tumors have shed light on potential molecular pathways that are dysregulated in schwannomatosis‐related schwannomas. Mouse models of schwannomatosis have been developed and promise to further expand our understanding of tumorigenesis and the tumor microenvironment. Clinical reports have described the occurrence of intracranial meningiomas in schwannomatosis patients and in families with germline SMARCB1 mutations. The authors propose updated diagnostic criteria to incorporate new clinical and genetic findings since 2005. In the next 5 years, the authors expect that advances in basic research in the pathogenesis of schwannomatosis will lead toward clinical investigations of potential drug therapies. © 2013 Wiley Periodicals, Inc.     

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically diagnosed autosomal dominant disorder requiring routine clinical management, particularly during the pediatric years. An overlapping disorder, Legius syndrome, at times is clinically indistinguishable from NF1 and results in a small percentage of individuals being mischaracterized. Distinguishing these two entities is increasingly important for prognosis, reproductive planning, and clinical management. The goal of our study was to evaluate the cost impact of genetic testing for patients with solely pigmentary findings. The costs of genetic testing in patients aged 1.5–18 years were modeled using a simulated population, assuming the clinical management approach of a single NF1 clinic. Two genetic testing algorithms (SPRED1 testing alone, and NF1 mutation analysis with reflex to SPRED1) were compared against a baseline of no genetic testing. The cost for SPRED1 mutation analysis for each individual meeting NF1 diagnostic criteria without neoplastic or boney manifestation, when compared to the no‐testing approach with routine follow‐up mutations between the ages of 10 and 14 years, was minimal (range of $4–$16). Based on the clinical practice of one NF1 clinic, we found that the cost difference to perform SPRED1 mutation analysis on individuals who meet diagnostic criteria for NF1 without neoplastic or boney manifestation were minimal. Therefore it is important that “when to test decisions” remain a physician/patient discussion, as individual benefits may be greatest at a different age than when it is most cost efficient. © 2013 Wiley Periodicals, Inc.     

A comparison of the Wisconsin card sorting test and the category test

An important clinical question is whether the Wisconsin Card Sorting Test and the Category Test, two tests of abstraction and concept formation, are interchangeable. This study attempted to answer this question by correlating results on the two tests and comparing their diagnostic accuracy in large groups of brain-damaged patients (N = 207) and normal controls (N = 150). It was concluded that these tests are not clinically interchangeable and that both can make important contributions to a comprehensive neuropsychological assessment.     

FDA Classification/Reclassification of Immunohistochemistry Reagents: Practical Considerations

Abstract

The Food and Drug Administration (FDA) is responsible for regulating the manufacture of in vitro diagnostic reagents. The level of regulation is linked to the level of risk posed by the product. Recently, the FDA published a proposed rule concerning the regulation of immunohistochemistry (IHC) reagents. The proposed rule states, in part, that the degree of risk to the patient associated with the use of IHC products depends on whether the product is used as an adjunct to conventional histopathology diagnostic techniques or provides information that is used independent of the conventional diagnostic process. The ruling makes no distinction on the basis of demonstrated use in basic research or clinical laboratory medicine. Under the proposed rule, manufacturers of IHC reagents would be required to submit a minimum of a premarket notification for each reagent. The premarket notification, or 510(k), imposes a time consuming and expensive regulatory hurdle. For purposes of comparison, biological stains represent a 510(k) exempt category of products. The present paper summarizes the FDA approval process as it relates to IHC products. Regulatory terms and conditions are defined. The implications of the proposed rule on the cost and availability of IHC reagents for clinical and research applications are discussed. (The J Histotechnol 20:73, 1997)     

Revisions and Refinements of the Diagnosis of Schizophrenia in DSM‐5

The DSM‐5 changes to the diagnostic criteria for schizophrenia reflect modest incremental changes. The two most substantial changes, the elimination of subtypes and de‐emphasis of Schneiderian First‐Rank Symptoms, are a significant departure from long‐standing approaches to conceptualizing and defining schizophrenia, but are unlikely to have an appreciable impact on caseness or clinical management. Several minor modifications to the diagnosis are generally useful additions that will likely enhance diagnostic precision. The two most controversial changes that were considered, the addition of dimensional ratings and attenuated psychosis syndrome, were ultimately placed in the third section of DSM‐5 for further research and consideration. In sum, the changes demonstrate increased precision of diagnosis, with minimal changes in caseness.     

Schizophrenic performance during interpersonal competitive conditions

Two equivalent forms of four standardized tests were administered to 41 schizophrenics, 36 patients with personality disorder diagnoses, and 36 employees at the Wyoming State Hospital. Each diagnostic group was divided into experimental and control groups; the experimental Ss from each diagnostic group took the second form of each test under paired, competitive conditions. The competitive conditions did not affect the experimental Ss' performance on any of the four tests to an acceptably significant level, although the experimental Ss from each diagnostic group performed better on a visual-motor task at a borderline level of significance. The results of the research are interpreted as supporting previous competition research that showed competitive conditions to be highly task-specific. The results do not support the numerous theories and some research studies that suggest that competitive conditions impair schizophrenic functioning.     

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future.     

Alpha-thalassaemia and population health in Southeast Asia

Alpha-thalassaemia mutations are common. In Southeast Asia, they cause Hb?H disease and Hb Barts hydrops fetalis. Fetuses with the devastating Hb Barts hydrops fetalis due to the complete lack of α-globin gene die in utero or shortly after birth, often during the second or third trimesters. Recent findings on patients with Hb?H disease who have only one active α-globin gene suggest that it is not necessarily a benign disorder as previously thought. The disease burden of these syndromes and their public health importance have been largely neglected. We review the population carrier frequencies of α-thalassaemia, and summarize the clinical features, diagnostic approaches, counselling and management of these common genetic disorders. Several practical proposals are made that, if implemented, can begin to address the issues of collaboration and improvement for care of these common diseases in the region.     

Peripheral primitive neuroectodermal tumour and extra-osseous Ewing's sarcoma; a histological,immunohistochemical and DNA flow cytometric study

Although peripheral primitive neuroectodermal tumour (pPNET) and extra-osseous Ewing's sarcoma (EES) are thought to be closely related neoplasms, their clinical behaviour differs considerably. To determine the clinical relevance of the Schmidt classification scheme for differentiating pPNET and EES, 20 tumour specimens of poorly differentiated round cell tumours were evaluated. In addition, the diagnostic value of several neural markers and the prognostic value of quantitative morphological variables (DNA ploidy, S-phase fraction, and the mitotic activity) were assessed. Homer-Wright rosettes were present in 9 tumours. Neuron specific enolase (NSE) was expressed in 11 tumours, 8 of which expressed a second neural marker (CD57, S100, or neurofilament). According to the Schmidt classification, 11 pPNET and 5 EES were distinguished. HBA-71 was exclusively expressed in pPNET and EES. The remaining tumours were classified as sarcoma not otherwise specified (n=2), rhabdomyosarcoma (n=1), and desmoplastic tumour with divergent differentiation (n=1). EES611 patients fared significantly better than the pPNET patients (100% versus 42% 5-year survival). Neither DNA ploidy nor S-phase fraction assessed in 12 evaluative histograms (9 pPNET and 3 EES), nor mitotic activity yielded information of additional prognostic value. On the basis of this study and the Schmidt classification scheme, it can be concluded that if the diagnosis of EES and pPNET is based on light microscopy (Homer-Wright rosettes) and/or immunohistochemistry (at least two neural markers, i.e. NSE, S-100, CD57, and neurofilament), the classification provides important clinical information. Furthermore, positivity for HBA-71 is helpful in differentiating pPNET and EES from all other small round cell tumours.     

A case of evolving post‐ictal language disturbance secondary to a left temporal arteriovenous malformation: Jargon aphasia or formal thought disorder?

Introduction.?Wernicke's dysphasia and formal thought disorder are regarded as distinct diagnostic entities although both are linked to pathology in the left superior temporal gyrus (STG). We describe a patient with focal pathology in the left STG, giving rise acutely to a fluent dysphasia, which gradually evolved into formal thought disorder.

Method.?Clinical, neuropsychological, neuropsychiatric, and neuroradiological assessment.

Results.?A right‐handed patient, AJ, presented acutely with a fluent dysphasia. His speech output gradually evolved from undifferentiated jargon, through neologistic jargon, to an intelligible but bizarre form of discourse. Comprehension was relatively well preserved. Radiology revealed an arteriovenous malformation in the left middle, and inferior temporal gyri, with reduced perfusion of the left STG. Six months later his overt dysphasia had recovered, but his speech retained some of its previous characteristics, in particular a tendency to a loose association of ideas which now suggested a disorder of thought.

Conclusions.?AJ's case illustrates that comprehension may be unexpectedly preserved in jargon aphasia, and that an overtly linguistic impairment can gradually evolve to an apparent disorder of thought. Indistinguishable formal thought disorders can result from “structural” and “functional” pathology in the dominant temporal lobe.     

Less common manifestations in TSC

Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected, such as brain, skin, eye, heart, bone, kidney, or lung. Typical lesions of TSC usually are those included as major criteria, including angiofibromas, hypomelanotic macules, tubers, subependymal nodules, angiomyolipomas, cardiac rhabdomyomas, and lymphangioleiomyomatosis. However, there are many other manifestations less frequent and/or less well known, many of them not included as clinical diagnostic criteria that are part of the clinical spectrum of TSC. The focus of this review will be on these less common and less well-known manifestations of TSC. Among the rare manifestations, we will discuss some clinical findings including arteriopathy, arachnoid cysts, lymphatic involvement, chordomas, gynecological, endocrine, and gastrointestinal findings. Among the manifestations that are very frequent but much less well known, we find the sclerotic bone lesions. Although they are very frequent in TSC they have been largely overlooked and not considered diagnostic criteria, mainly because they are asymptomatic. However, it is important to know their typical characteristics to avoid misdiagnosing them as metastasis.     

新型冠状病毒肺炎的临床特征

本文总结了新型冠状病毒的特点,新型冠状病毒肺炎的发病特点、临床症状、实验室检查等临床特征,以及目前诊断标准包括临床症状、实验室检查、CT等,以提高公众对新型冠状病毒肺炎的认识和防控,同时为诊断研究提供基础。     

Clinical exome sequencing findings in 1589 patients

Clinical exome sequencing (CES) is important for the diagnosis of Mendelian diseases, which are clinically and etiologically heterogeneous. Sharing of large amounts of CES data associated with clinical findings will increase the accuracy of variant interpretation. We performed a retrospective study to state the diagnostic yield of CES in 1589 patients with a wide phenotypic spectrum. CES was performed using the Sophia Clinical Exome Sequencing Kit with 4493 genes, followed by sequencing on a NextSeq 500 system. The diagnosis rate was 36.8% when only pathogenic and likely pathogenic variants were included. Consanguineous unions and positive family history were associated with a high diagnostic yield. The neurological disease group had the highest number of patients. The groups with high diagnosis rates were ear, eye, and muscle disease groups. Seven candidate genes (EFHC2, HSPB3, FAAH2, ITGB1, GYG2, CD177, and CSTF2T) that are not yet associated with human diseases were identified. Owing to the high diagnostic yield of CES compared with that of other genetic tests, it can be used as a standard diagnostic test in patients with rare genetic disorders that require a wide differential diagnosis, especially in laboratories with limited resources.     

The self-harm inventory (SHI): Development of a scale for identifying self-destructive behaviors and borderline personality disorder

Intentional self-harm behavior is an important clinical phenomenon that appears highly related to borderline personality disorder (BPD). Self-harm behavior in the context of borderline personality probably exists along a continuum from graphic, self-harm behavior to milder forms of self-sabotaging behavior that might be viewed as self-defeating. Relatively little attention has been paid to developing a self-report measure of intentional self-harm, particularly as a screening device for detecting BPD. In Study 1, an initial list of self-harm behaviors encountered in clinical practice was narrowed to those behaviors related to BPD in a sample comprised of adults from both a mental health and non–mental health setting. All participants (N = 221) underwent a semistructured diagnostic interview for BPD. Using a cut-off score of 5 on the resulting 22-item Self-Harm Inventory (SHI), 83.7% of research participants were correctly classified as having BPD or not. In Study 2, women (N = 285) sampled from an outpatient medical setting completed the SHI and a widely used self-report measure of BPD. The SHI cut-off score resulted in correct classification of 87.9% of the individuals. In Study 3, using a sample of adults involuntarily hospitalized for psychiatric reasons (N = 32), the SHI performed at least as well as another self-report measure of BPD in diagnosing participants (the final diagnosis was based on a semistructured interview). The results are discussed with regard to potential advantages and utility of the SHI and need for further validation. © 1998 John Wiley & Sons, Inc. J Clin Psychol 54: 973–983, 1998.     

Developing diagnostic techniques: The role of magnetic resonance imaging in tumour staging

Magnetic resonance (MR) is a state-of-the art imaging modality which does not use ionizing radiation. It is now widely available as an imaging technique in the U.K. and is no longer confined to specialist centres. MR has now become part of the clinician's diagnostic armamentarium and is not merely a research utility. A magnetic field and radio-frequency waves are used to excite protons and produce an image. Protons exist in many different environments but for imaging purposes the hydrogen protons in fat and water are used. The rate at which excited protons relax is described by two characteristic times, T₁ and T₂, which vary in different tissues. T₁-weighted images show normal anatomy, whilst T₂-weighted images generally highlight abnormal tissue. Injection of a paramagnetic gadolinium-based contrast agent enhances T₁-weighted images by reducing relaxation times. Initially it was felt that MR would be tissue-specific,¹ enabling correlation with histopathological findings. Unfortunately, research and clinical use has shown that MR does not fulfil these expectations at present.² Future developments such as spectroscopy may improve tissue specificity and hence diagnostic accuracy. The value of MR for imaging the neuro-axis and musculo-skeletal system is well established. New developments are increasing its applications in breast, thorax, and liver imaging. There has been much research into the role of MR in staging malignant tumours, particularly in the areas of bladder and lung carcinomas. The present article concentrates on this specific application.