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In this editorial, we comment on the article by Zhang et al entitled Development of a machine learning-based model for predicting the risk of early postoperative recurrence of hepatocellular carcinoma. Hepatocellular carcinoma (HCC), which is characterized by high incidence and mortality rates, remains a major global health challenge primarily due to the critical issue of postoperative recurrence. Early recurrence, defined as recurrence that occurs within 2 years posttreatment, is linked to the hidden spread of the primary tumor and significantly impacts patient survival. Traditional predictive factors, including both patient- and treatment-related factors, have limited predictive ability with respect to HCC recurrence. The integration of machine learning algorithms is fueled by the exponential growth of computational power and has revolutionized HCC research. The study by Zhang et al demonstrated the use of a groundbreaking preoperative prediction model for early postoperative HCC recurrence. Chall-enges persist, including sample size constraints, issues with handling data, and the need for further validation and interpretability. This study emphasizes the need for collaborative efforts, multicenter studies and comparative analyses to validate and refine the model. Overcoming these challenges and exploring innovative approaches, such as multi-omics integration, will enhance personalized oncology care. This study marks a significant stride toward precise, effi-cient, and personalized oncology practices, thus offering hope for improved patient outcomes in the field of HCC treatment.

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OBJECTIVES: To determine performance of C-reactive protein (CRP) in the diagnosis of early-onset sepsis, and to assess patient outcomes with and without routine use of CRP. STUDY DESIGN: This was a retrospective cohort study of infants admitted to 2 neonatal intensive care units. CRP was used routinely in early-onset sepsis evaluations during 2009-2014; this period was used to determine CRP performance at a cut-off of ≥10 mg/L in diagnosis of culture-confirmed early-onset sepsis. Routine CRP use was discontinued during 2018-2020; outcomes among infants admitted during this period were compared with those in 2012-2014. RESULTS: From 2009 to 2014, 10 134 infants were admitted; 9103 (89.8%) had CRP and 7549 (74.5%) had blood culture obtained within 3 days of birth. CRP obtained ±4 hours from blood culture had a sensitivity of 41.7%, specificity 89.9%, and positive likelihood ratio 4.12 in diagnosis of early-onset sepsis. When obtained 24-72 hours after blood culture, sensitivity of CRP increased (89.5%), but specificity (55.7%) and positive likelihood ratio (2.02) decreased. Comparing the periods with (n = 4977) and without (n = 5135) routine use of CRP, we observed lower rates of early-onset sepsis evaluation (74.5% vs 50.5%), antibiotic initiation (65.0% vs 50.8%), and antibiotic prolongation in the absence of early-onset sepsis (17.3% vs 7.2%) in the later period. Rate and timing of early-onset sepsis detection, transfer to a greater level of care, and in-hospital mortality were not different between periods. CONCLUSIONS: CRP diagnostic performance was not sufficient to guide decision-making in early-onset sepsis. Discontinuation of routine CRP use was not associated with differences in patient outcomes despite lower rates of antibiotic administration.

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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.

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BACKGROUND: Identification of genomic alterations present in cancer patients may aid in cancer diagnosis, prognosis and therapeutic target discovery. In this study, we aimed to identify clinically actionable variants present in stage IV breast cancer (BC) samples. MATERIALS AND METHODS: DNA was extracted from formalin-fixed paraffin-embedded samples of BC (n = 41). DNA was sequenced using MammaSeq, a BC-specific next-generation sequencing panel targeting 79 genes and 1369 mutations. Ion Torrent Suite 4.0 was used to make variant calls on the raw data, and the resulting single nucleotide variants were annotated using the CRAVAT toolkit. Single nucleotide variations (SNVs) were filtered to remove common polymorphisms and germline variants. CNVkit was employed to identify copy number variations (CNVs). The Precision Medicine Knowledgebase (PMKB) and OncoKB Precision Oncology Database were used to associate clinical significance with the identified variants. RESULTS: A total of 41 samples from Turkish patients with BC were sequenced (read depth of 94-13,340; median of 1529). These patients were diagnosed with various BC subtypes including invasive ductal carcinoma, invasive lobular carcinoma, apocrine BC, and micropapillary BC. In total, 59 different alterations (49 SNVs and 10 CNVs) were identified. From these, 8 alterations (3 CNVs - ERBB2, FGFR1, and AR copy number gains and 5 SNVs - IDH1.R132H, TP53.E204∗, PI3KCA.E545K, PI3KCA.H1047R, and PI3KCA.R88Q) were identified to have some clinical significance by PMKB and OncoKB. Moreover, the top 5 genes with the most SNVs included PIK3CA, TP53, MAP3K1, ATM, and NCOR1. Additionally, copy number gains and losses were found in ERBB2, GRB7, IGFR1, AR, FGFR1, MYC, and IKBKB, and BRCA2, RUNX1, and RB1, respectively. CONCLUSION: We identified 59 unique alterations in 38 genes in 41 stage IV BC tissue samples using MammaSeqTM. Eight of these alterations were found to have some clinical significance by OncoKB and PKMB. This study highlights the potential use of cancer specific next-generation sequencing panels in clinic to get better insight into the patient-specific genomic alterations.

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Little is known about the characteristics of individuals seeking treatment for food addiction (FA), and the clinical utility of FA has yet to be established. To address these gaps, we examined (i) the demographic, eating pathology, and psychiatric conditions associated with FA and (ii) whether FA is associated with psychosocial impairments when accounting for eating-related and other psychopathology. Forty-six patients seeking treatment for FA completed self-report questionnaires and semi-structured clinical interviews. The majority of the sample were women and self-identified as White, with a mean age of 43 years. Most participants (83.3%) presented with a comorbid psychiatric condition, most commonly anxiety and mood disorders, with a mean of 2.31 comorbid conditions. FA was associated with binge eating severity and anxiety symptoms, as well as psychological, physical, and social impairment. In regression analyses controlling for binge eating severity, food cravings, depression, and anxiety, FA remained a significant predictor only of social impairment. Taken together, the results suggest that individuals seeking treatment for FA are likely to present with significant comorbid conditions, in particular anxiety disorders. The results of the present research provide evidence for the clinical utility of FA, particularly in explaining social impairment.

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BACKGROUND: The World Health Organization (WHO) International Classification of Diseases and Related Health Problems (ICD) is used globally by 194 WHO member nations. It is used for assigning clinical diagnoses, providing the framework for reporting public health data, and to inform the organization and reimbursement of health services. Guided by overarching principles of increasing clinical utility and global applicability, the 11th revision of the ICD proposes major changes that incorporate empirical advances since the previous revision in 1992. To test recommended changes in the Mental, Behavioral, and Neurodevelopmental Disorders chapter, multiple vignette-based case-controlled field studies have been conducted which examine clinicians' ability to accurately and consistently use the new guidelines and assess their overall clinical utility. This manuscript reports on the results from the study of the proposed ICD-11 guidelines for feeding and eating disorders (FEDs). METHOD: Participants were 2288 mental health professionals registered with WHO's Global Clinical Practice Network. The study was conducted in Chinese, English, French, Japanese, and Spanish. Clinicians were randomly assigned to apply either the ICD-11 or ICD-10 diagnostic guidelines for FEDs to a pair of case vignettes designed to test specific clinical questions. Clinicians selected the diagnosis they thought was correct for each vignette, evaluated the presence of each essential feature of the selected diagnosis, and the clinical utility of the diagnostic guidelines. RESULTS: The proposed ICD-11 diagnostic guidelines significantly improved accuracy for all FEDs tested relative to ICD-10 and attained higher clinical utility ratings; similar results were obtained across all five languages. The inclusion of binge eating disorder and avoidant-restrictive food intake disorder reduced the use of residual diagnoses. Areas needing further refinement were identified. CONCLUSIONS: The proposed ICD-11 diagnostic guidelines consistently outperformed ICD-10 in distinguishing cases of eating disorders and showed global applicability and appropriate clinical utility. These results suggest that the proposed ICD-11 guidelines for FEDs will help increase accuracy of public health data, improve clinical diagnosis, and enhance health service organization and provision. This is the first time in the revision of the ICD that data from large-scale, empirical research examining proposed guidelines is completed in time to inform the final diagnostic guidelines.

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Background/Objective: The World Health Organization's diagnostic guidelines for ICD-11 mental and behavioural disorders must be tested in clinical settings around the world to ensure that they are clinically useful and genuinely global. The objective is evaluate the inter-rater reliability and clinical utility of ICD-11 guidelines for psychotic, mood, anxiety- and stress-related disorders in Mexican patients. Method: Adult volunteers exhibiting the selected symptoms were referred from the pre-consultation unit of a public psychiatric hospital to an interview by a pair of clinicians, who subsequently assigned independent diagnoses and evaluated the clinical utility of the diagnostic guidelines as applied to each particular case, on the basis of a scale developed for this purpose. Results: 23 clinicians evaluated 153 patients. Kappa scores were strong for psychotic disorders (.83), moderate for stress-related (.77) and mood disorders (.60) and week for anxiety and fear-related disorders (.43). A high proportion of clinicians considered all diagnostic guidelines to be quite to extremely useful as applied to their patients. Conclusions: ICD-11 guidelines for psychotic, stress-related and mood disorders allow adequate inter-rater consistency among Mexican clinicians, who also considered them as clinical useful tools.

Antecedentes/Objetivo: Las guías diagnósticas CIE-11 para trastornos mentales y del comportamiento de la Organización Mundial de la Salud deben ser evaluadas en pacientes reales alrededor del mundo a fin de asegurar que son clínicamente útiles y genuinamente globales. Se evalúa la consistencia inter-evaluadores y la utilidad clínica de las guías para los trastornos psicóticos, afectivos, de ansiedad y relacionados con el estrés en pacientes mexicanos. Método: Voluntarios con síntomas psicóticos, afectivos, de ansiedad o relacionados con el estrés derivados de una unidad de pre-consulta de un hospital psiquiátrico, para una entrevista con una pareja de clínicos, quienes posteriormente asignaron diagnósticos de manera independiente y evaluaron la utilidad clínica de las guías aplicadas a cada caso en particular, con base en una escala desarrollada para este propósito. Resultados: 23 clínicos evaluaron 153 pacientes. Los coeficientes Kappa fueron fuertes para trastornos psicóticos (0,83), moderados para los relacionados con el estrés (0,77) y afectivos (0,60), y débiles para los de ansiedad y relacionados con el miedo (0,43). Una alta proporción de clínicos consideró que las guías eran bastante o extremadamente útiles. Conclusiones: Las guías CIE-11 para dichos trastornos permiten una adecuada consistencia inter-evaluadores en clínicos mexicanos, quienes les consideran herramientas clínicamente útiles.

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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

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It is believed that the development of metastatic cancer requires the presence of circulating tumor cells (CTCs) , which are found in a patient's circulation as rare abnormal cells comingled with billions of the normal red and white blood cells. The systems developed for detection of CTCs have brought progress to cancer treatment. The molecular characterization of CTCs can aid in the development of new drugs, and their presence during treatment can help clinicians determine the prognosis of the patient. Studies have been carried out in patients early in the disease course, with only primary tumors, and the role of CTCs in prognosis seems to be as important as it is in patients with metastatic disease. The published studies on CTCs have focused on their prognostic significance, their utility in real-time monitoring of therapies, the identification of therapeutic and resistance targets, and understanding the process of metastasis . The analysis of CTCs during the early stages, as a "liquid biopsy," helps to monitor patients at different points in the disease course, including minimal residual disease, providing valuable information about the very early assessment of treatment effectiveness. Finally, CTCs can be used to screen patients with family histories of cancer or with diseases that can lead to the development of cancer. With standard protocols, this easily obtained and practical tool can be used to prevent the growth and spread of cancer. In this chapter, we review some important aspects of CTCs , surveying the disease aspects where these cells have been investigated.

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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.

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OBJECTIVE: To explore the rationales of mental health professionals (mainly psychiatrists and psychologists) from 8 countries for removing specific diagnostic categories from mental disorders classification systems. METHOD: As part of a larger study, 505 participants indicated which of 60 major disorders should be omitted from mental disorders classification systems and provided rationales. Rationale statements were analyzed using inductive content analysis. RESULTS: The majority of clinicians (60.4%) indicated that 1 or more disorders should be removed. The most common rationales were (a) problematic boundaries between normal and psychopathological conditions (45.9% of total removal recommendations), (b) problematic boundaries among mental disorders (25.4%), and (c) problematic boundaries between mental and physical disorders (24.0%). The categories most frequently recommended for deletion were gender identity disorder, sexual dysfunction, and paraphilias, usually because clinicians viewed these categories as being based on stigmatization of a way of being and behaving. A range of neurocognitive disorders were described as better conceptualized as nonpsychiatric medical conditions. Results were analyzed by country and country income level. Although gender identity disorder was the category most frequently recommended for removal overall, clinicians from Spain, India, and Mexico were most likely to do so and clinicians from Nigeria and Japan least likely, probably because of social and systemic factors that vary by country. Systematic differences in removal rationales by country income level may be related to the development, structure, and functioning of health systems. CONCLUSION: Implications for development and dissemination of the classification of mental and behavioral disorders in WHO's ICD-11 are discussed.

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BACKGROUND: There is a lack of consensus on the diagnosis of sarcopenia. A screening and diagnostic algorithm was proposed by the European Working Group on Sarcopenia in Older People (EWGSOP). OBJECTIVE: To assess the performance of the EWGSOP algorithm in determining the proportion of subjects suspected of having sarcopenia and selected to undergo subsequent muscle mass (MM) measurement. DESIGN: A cross-sectional study. SETTING: The cohorts, Frailty in Brazilian Older People Study-Rio de Janeiro (FIBRA-RJ), Brazil; Coyoacan Cohort (CC), Mexico City, Mexico; and Toledo Study for Healthy Aging (TSHA), Toledo, Spain. SUBJECTS: Three thousand two hundred and sixty community-dwelling individuals, 65 years and older. METHODS: Initially, the EWGSOP algorithm was applied using its originally proposed cut-off values for gait speed and handgrip strength; in the second step, values tailored for the specific cohorts were used. RESULTS: Using the originally suggested EWGSOP cut-off points, 83.4% of the total cohort (94.4% in TSHA, 75.5% in FIBRA-RJ, 67.8% in CC) would have been considered as suspected of sarcopenia. Adapted cut-off values lowered the proportion of abnormal results to 34.2% (quintile-based approach) and 23.71% (z-score approach). CONCLUSIONS: The algorithm proposed by the EWGSOP is of limited clinical utility in screening older adults for sarcopenia due to the high proportion of subjects selected to further undergo MM assessment. Tailoring cut-off values to specific characteristics of the population being studied reduces the number of people selected for MM assessment, probably improving the performance of the algorithm. Further research including the objective measure of MM is needed to determine the accuracy of these specific cut-off points.

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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.

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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.