Validez, confiabilidad y utilidad clínica de los trastornos mentales: el caso de la esquizofrenia de la CIE-11 / Validity, Reliability and Clinical Utility of Mental Disorders: The Case of ICD-11 Schizophrenia

RESUMEN Los sistemas de clasificación diagnóstica categorizan la psicopatología en trastornos mentales. Aunque estas entidades son constructos clínicos elaborados por consenso, se ha señalado que en la práctica se suele tratarlas como entidades naturales y sin valorar aspectos relacionados con su construcción nosológica. Los objetivos del estudio son revisar: a) la conceptualización de los trastornos mentales; b) los indicadores de validez, confiabilidad y utilidad clínica, y c) los valores de estos indicadores en la esquizofrenia de la CIE-11. Los resultados muestran que los trastornos mentales están conceptualizados como entidades discretas, al igual que las enfermedades de otras áreas de la medicina; sin embargo, se observan diferencias entre ambas categorías diagnósticas en la práctica clínica. La confiabilidad y la utilidad clínica de los trastornos mentales son adecuadas; no obstante, la validez aún no está esclarecida. De modo similar, la esquizofrenia de la CIE-11 presenta adecuadas confiabilidad y utilidad clínica, pero su validez permanece incierta. La conceptualización de la psicopatología mental en entidades discretas puede resultar inadecuada para su estudio, por lo que se han propuesto modelos dimensionales y mixtos. Los indicadores de validez, confiabilidad y utilidad clínica permiten tener una visión precisa del estado nosológico de los trastornos mentales al valorar distintos aspectos de su construcción nosológica.

ABSTRACT Diagnostic classification systems categorize mental psychopathology in mental disorders. Although these entities are clinical constructs developed by consensus, it has been pointed out that in practice they are usually managed as natural entities and without evaluating aspects related to their nosological construction. The objectives of the study are to review a) the conceptualization of mental disorders, b) the indicators of validity, reliability and clinical utility, and c) the values of these indicators in ICD-11 schizophrenia. The results show that mental disorders are conceptualized as discrete entities, like the diseases of other areas of medicine; however, differences are observed between these diagnostic categories in clinical practice. The reliability and clinical utility of mental disorders are adequate; however, the validity is not yet clarified. Similarly, ICD-11 schizophrenia demonstrates adequate reliability and clinical utility, but its validity remains uncertain. The conceptualization of psychopathology in discrete entities may be inadequate for its study, therefore dimensional and mixed models have been proposed. The indicators of validity, reliability and clinical utility enable us to obtain an accurate view of the nosological state of mental disorders when evaluating different aspects of their nosological construction.

Liquid biopsy: emergence of a new era in personalized cancer care

The most successful treatment for cancer involves identifying druggable, biological markers for targeted therapy. In the clinical setting, surgical removal of tumors is the only procedure for identifying such targetable molecules. Shed from tumor cells, these markers are also present in circulating blood, albeit in very negligible amounts. Liquid biopsy is a procedure performed on a blood sample to look for such circulating cancer markers cells or pieces of nucleic acid from the tumor. The procedure shows promise in revolutionizing personalized cancer treatments. Here we briefly review the technique, characterization, and its utilization in clinics

Clinical utility of circulating tumor DNA detection for diagnosis of breast cancer / 中国癌症杂志

With the development of the next generation sequencing technology, considerable attention has been paid to the utility of circulating tumor DNA (ctDNA) detection in breast cancer. There are many clinical trials showed the ctDNA detection is a potential biomarker for the diagnosis, management and prognosis of breast cancer. ctDNA detection can provide a more accurate diagnosis for patients to guide clinical treatment in precision medicine era.

The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders

Abstract Next-generation sequencing (NGS) panels are used widely in clinical diagnostics to identify genetic causes of various monogenic disease groups including neurometabolic disorders and, more recently, lysosomal storage disorders (LSDs). Many new challenges have been introduced through these new technologies, both at the laboratory level and at the bioinformatics level, with consequences including new requirements for interpretation of results, and for genetic counseling. We review some recent examples of the application of NGS technologies, with purely diagnostic and with both diagnostic and research aims, for establishing a rapid genetic diagnosis in LSDs. Given that NGS can be applied in a way that takes into account the many issues raised by international consensus guidelines, it can have a significant role even early in the course of the diagnostic process, in combination with biochemical and clinical data. Besides decreasing the delay in diagnosis for many patients, a precise molecular diagnosis is extremely important as new therapies are becoming available within the LSD spectrum for patients who share specific types of mutations. A genetic diagnosis is also the prerequisite for genetic counseling, family planning, and the individual choice of reproductive options in affected families.

The Clinical Utility of Positron Emission Tomography-computed Tomography in the Evaluation of Inflammatory Bowel Diseases

BACKGROUND/AIMS: Positron emission tomography-computed tomography (PET-CT) is a nuclear imaging technique that provides noninvasive, three dimensional, quantitative images. Recently, PET-CT has been shown to be valuable in assessing patients with inflammatory diseases; however, the clinical utility of PET-CT in the evaluation of inflammatory bowel disease (IBD) has not been defined. Thus, the aim of this study was to determine the clinical utility of PET-CT in the evaluation of IBD. METHODS: Between November 2006 and September 2010, clinical, endoscopic, and radiological data on 14 patients (6 males and 8 females: age range, 33-79 years) with suspected IBD were collected. The standard work-up method for a definite diagnosis of IBD included ileocolonoscopy. RESULTS: The 14 patients were divided into the following five groups: ulcerative colitis (n=4, 29%), intestinal Behcet's disease (n=3, 21%), intestinal tuberculosis (n=2, 14%), malignancy (n=2, 14%), and no abnormal findings with colonoscopy (n=3, 21%). A PET-CT based-diagnosis of IBD correlated with a colonoscopic diagnosis in nine cases (64.3%), but the matching ratio of the distribution of lesions between PET-CT findings and colonoscopic findings was only 18.1% (2/11). CONCLUSIONS: The utility of PET-CT in the diagnosis of IBD requires further evaluation.

Avaliação qualitativa sobre o que os psiquiatras brasileiros esperam das classificações diagnósticas / A qualitative analysis on what Brazilian psychiatrists expect from current diagnostic classifications

Introdução: Pretende-se analisar o perfil de respostas qualitativas a um questionário padronizado anônimo, com itens abertos e fechados, sobre a percepção dos psiquiatras brasileiros acerca do uso dos sistemas diagnósticos multiaxiais CID-10 e DSM-IV e de suas expectativas quanto às próximas revisões (CID-11 e DSM-V). Método: O questionário, elaborado por Graham Mellsop (Nova Zelândia), foi traduzido e enviado para 1.050 psiquiatras afiliados à Associação Brasileira de Psiquiatria. Resultados: Retornaram 160 questionários (15,2%). Nestes, 71,1% das questões abertas foram respondidas. As principais qualidades julgadas necessárias ou desejadas em uma classificação psiquiátrica foram: simplicidade, clareza de critérios, objetividade, compreensibilidade, confiabilidade e facilidade de uso. O eixo I da CID-10 foi citado como o mais utilizado pelo caráter instrumental e pelo fato de ser a classificação oficial, inclusive para fins burocráticos e legais. O DSM-IV também é bastante utilizado no cotidiano, sobretudo para ensino e pesquisa, por psiquiatras com afiliações acadêmicas. O uso menos frequente de sistemas multiaxiais foi justificado pela falta de treino e de familiaridade, pela sobrecarga de informações e pelo fato de não serem obrigatórios. Avaliou-se que algumas categorias diagnósticas, entre outras, devem ser revistas, como: retardo mental, transtornos alimentares, de personalidade, do sono, da infância e adolescência, quadros ansiosos, afetivos, esquizoafetivos. Conclusão: O material fornece um panorama sobre as opiniões e expectativas dos psiquiatras a respeito dos instrumentos diagnósticos dos quais se servem ativamente em sua prática diária e cujas revisões estão em pleno processo de elaboração.

Introduction: The objective of the present study was to analyze the qualitative answers of an anonymous standardized survey including qualitative and quantitative questions about the Brazilian psychiatrists’ perceptions on their use of the multiaxial diagnostic systems ICD-10 and DSM-IV and about their expectations regarding future revisions of these classifications (ICD-11 and DSM-V). Method: The questionnaire, elaborated by Graham Mellsop (New Zealand), was translated into Portuguese and sent through mail to 1,050 psychiatrists affiliated to the Brazilian Psychiatry Association. The quantitative analysis is presented elsewhere. Results: One hundred and sixty questionnaires returned (15.2%). From these, 71.1% of the open questions where answered. The most needed and/or desirable qualities in a psychiatric classification were found to be: simplicity, clarity of criteria, objectivity, comprehensibility, reliability, and ease to use. Axis I of the ICD-10 was reported to be the most used due to its instrumental character in addition to being the official classification also for legal and bureaucratic purposes. The DSM-IV was also used in the everyday practice, mostly for education and research purposes, by psychiatrists with academic affiliations. The less frequent use of the multiaxial systems was explained by the lack of training and familiarity, the overload of information and by the fact they are not mandatory. Based on the respondents’ answers, we concluded that some diagnostic categories must be revised, such as: mental retardation, eating disorders, personality disorders, sleeping disorders, child and adolescent disorders, affective, and schizoaffective disorders. Conclusion: This material offers a systematic overview of the psychiatrists’ opinions and expectations concerning the diagnostic instruments used in their daily practice.

O que os psiquiatras brasileiros esperam das classificações diagnósticas? / What do Brazilian psychiatrists want from diagnostic classifications?

OBJETIVO: Realizou-se um levantamento postal anônimo com psiquiatras brasileiros afiliados à Associação Brasileira de Psiquiatria (ABP) sobre uso, percepção em termos de utilidade clínica dos sistemas diagnósticos multiaxiais CID-10 e DSM-IV e, ainda, expectativas sobre as próximas revisões. MÉTODOS: A carta-convite, o questionário padronizado e um envelope selado foram enviados para 1.050 dos 3.062 psiquiatras associados da ABP, selecionados de forma randomizada. Em virtude da taxa relativamente baixa de retorno: 160 respostas (15,2 por cento), não se pode afirmar que a amostra obtida seja representativa. resultados: Os principais resultados mostraram que, entre os respondentes, a CID-10 é o sistema diagnóstico mais utilizado, sobretudo seu eixo clínico. O DSM-IV também é amplamente empregado, principalmente os eixos I e II. A principal característica esperada de um sistema classificatório foi a confiabilidade para comunicação. As classificações são vistas como instrumentos a ser manejados pelos psiquiatras e, em menor proporção, por outros membros de equipes multidisciplinares de saúde mental. Os atuais sistemas foram considerados confiáveis para o uso transcultural no contexto brasileiro. Em relação às expectativas quanto aos futuros sistemas, os psiquiatras preferem classificações com menos de 100 rubricas diagnósticas e dividem-se entre os que acham que estas devam expressar preferencialmente causa/patogênese dos transtornos mentais e aqueles que esperam que tais categorias, sobretudo, sejam construídas de modo a subsidiar o planejamento terapêutico. CONCLUSÕES: Os sistemas diagnósticos desempenham um importante papel na prática psiquiátrica cotidiana dos psiquiatras respondentes. As opiniões dos psiquiatras brasileiros parecem refletir bem algumas controvérsias existentes acerca de questões nosográficas decisivas.

OBJECTIVE: An anonymous mail survey was carried out with Brazilian psychiatrists affiliated with Brazilian Psychiatric Association (ABP). A structured questionnaire was employed to assess use and perceived utility of current diagnostic classifications (ICD-10 and DSM-IV), as well as their expectations about the future revisions. METHODS: From the mailing list provided by ABP with 3,062 names of affiliated Brazilian psychiatrists, 1,050 were randomly selected to receive the questionnaire, along with a stamped, return address envelope. From the sample of 1,050, 160 completed questionnaires were returned, which corresponds to the following rate of response: 15.2 percent. No claims are made about the representativeness of the sample. RESULTS: It was found that the ICD-10 is the most frequently used system, especially its clinical axis. The DSM-IV's axes I and II are often used as well. For this sample the most important purpose of a classification is to ensure reliable inter-clinician communication. Classifications are seen as tools for psychiatric use and, to a lesser extent, for the use of a multidisciplinary team. Current diagnostic systems are perceived as reliable for cross-cultural use in our context. Regarding expectations about the future revisions, Brazilian psychiatrists prefer simpler classifications, with less than 100 diagnostic labels. They split, however, about having separate systems to account for cause/pathogenesis and to inform treat ment plans or a single classification, with many compromises, to convey information concerning causes, prognosis and treatment decisions. CONCLUSIONS: Classificatory systems play an important role in everyday psychiatric clinical practice in this sample of psychiatrists. Brazilian psychiasystems. trists' opinions seem to reflect well existing controversies regarding some key nosographic issues.

Study on clinical utility of continuous glucose monitoring system / 中国实用内科杂志

Objective To determine the accuracy and reliability of continuous glucose monitoring system(CGMS)in intensive monitoring blood glucose level.Methods The analysis was conducted on 48 type 2 diabetes patients to compare the glucose levels of glucose meter and CGMS.Each patients received CGMS for 3 days during his/her hospitalization.The data were analyzed according to correlation coefficient analysis,mean absolute error,sensitivity and specificity.Results The mean duration of CGMS recording was(71.4?0.6)h.From the data that paired glucose readings and CGMS,the coefficients of correlation ranged from 0.79 to 0.90 and the mean absolute error ranged from 6.7% to 10.0%.The sensitivity and specificity to detect hyperglycemia were 93.15% and 95.95%,respectively.Conclusion There is a good correlation between sensor readings of interstitial fluid glucose level and capillary blood glucose readings.The results indicate that CGMS is of clinical utility as a holter-type glucose tracking device.