A CIF-CJ para crianças e adolescentes com osteogênese imperfeita: a perspectiva de especialistas

Objetivo: A partir da perspectiva de especialistas em Osteogênese Imperfeita (OI), identificar as categorias da Classificação Internacional de Funcionalidade, Incapacidade e Saúde-versão crianças e jovens (CIF-CJ) mais relevantes para avaliação de pacientes. Métodos: Três etapas de questionários enviados por correio eletrônico para cinco especialistas em OI utilizando o método Delphi modificado. Os participantes escolheram a partir de uma lista de categorias de segundo nível da CIF-CJ, as mais relevantes para avaliação da funcionalidade em crianças e adolescentes com OI. Ao final da terceira etapa, foram selecionadas as categorias escolhidas por no mínimo 80% dos respondentes. Resultados: Todos os componentes atingiram categorias com consenso. Os componentes com maior número de categorias escolhidas foram Atividades e Participação e Fatores Ambientais. Conclusão: Uma lista de categorias da CIF-CJ relevantes para OI pôde ser elaborada a partir da perspectiva de especialistas. Esta é uma importante etapa na elucidação do que deve ser avaliado em crianças e adolescentes com OI.Objective: From the perspective of specialists in Osteogenesis Imperfecta (OI), to identify the most relevant categories of the International Classification of Functioning, Disability, and Health: children and youth version (ICF-CY) to patients. Methods: Three-stage surveys were sent by email to five OI specialists using the modified Delphi method. From a list of second-level ICF-CY categories, the participants chose the most relevant categories to assess the functioning of children and adolescents with OI. At the end of the third stage, the categories considered relevant by at least 80% of the responders were selected. Results: Categorizations of all ICF-CY components were agreed upon. Activities, Participation, and Environmental Factors were the categories with the most components. Conclusion: A list of ICF-CY categories relevant to OI could be created from the perspective of specialists. This is an important step to highlight what to assess in children and adolescents with OI

Identificação dos conceitos de medidas de desfechos de ensaios clínicos em osteogênese imperfeita utilizando a Classificação Internacional de Funcionalidade, Incapacidade e Saúde - versão crianças e jovens

The biopsychosocial model from the International Classification of Functioning, Disability, and Health (ICF) has been used as a reference in clinical practice to identify and analyze the functioning components in outcome measures. Objective: The objectives of this study were to identify the concepts contained in outcome measures of clinical trials on Osteogenesis Imperfecta, to analyze how these concepts are linked with the ICF - Children and Youth version (ICF-CY) and describe what the functioning components are that are assessed in these studies. Method: Randomized controlled trials on children with diagnoses of Osteogenesis Imperfecta carried out between 2000 and 2013 were selected using MedLine and Cochrane. The outcome measures were extracted and the concepts contained in the outcome measures were linked to the ICF-CY. Results: Fourteen trials were included. The concepts of clinical and technical measures and of one health assessment instrument (Pediatric Evaluation of Disability Inventory - PEDI) were identified. The concepts of clinical and technical measures were linked to the ICF-CY Body Functions and Structures component. The PEDI concepts were linked to the Body Functions and especially to Activity and Participation. Conclusion: Using the linking of the concepts of outcome measures to the ICF-CY it was possible to verify that clinical trials on Osteogenesis Imperfecta assessed mainly the Body Functions and Body Structures component. Assessments of Activity and Participation and contextual factors are scarce on these studies. More research is necessary on the effects of interventions on these components.O modelo biopsicossocial da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF) tem sido utilizado como referência na prática clínica para identificação e análise dos componentes da funcionalidade presentes em medidas de desfechos. Objetivo: Este estudo tem como objetivos identificar os conceitos de medidas de desfecho de ensaios clínicos em Osteogênese Imperfeita, analisar como estes conceitos se relacionam com a Classificação Internacional de Funcionalidade, Incapacidade e Saúde versão crianças e jovens (CIF-CJ) e descrever quais componentes da funcionalidade mais avaliados. Método: Ensaios clínicos realizados entre 2000 e 2013 em crianças com diagnóstico de Osteogênese Imperfeita foram selecionados a partir de uma revisão nas bases de dados MedLine e Cochrane. As medidas de desfecho foram extraídas e os conceitos significativos de cada medida foram relacionados à CIF-CJ. Resultados: Foram incluídos para o estudo 14 artigos. Os conceitos de medidas clínicas e técnicas e de um instrumento de avaliação padronizado (Pediatric Evaluation of Disability Inventory - PEDI) foram identificados. Os conceitos das medidas clínicas e técnicas relacionaram-se ao componente da CIF-CJ Funções e Estruturas do Corpo. Os conceitos do PEDI relacionaram-se aos componentes Funções do Corpo e principalmente Atividade e Participação. Conclusão: Através do link dos conceitos das medidas de desfecho com a CIF-CJ foi verificado que os ensaios clínicos em OI avaliam principalmente o componente Funções e Estruturas do Corpo. As avaliações da Atividade e Participação e os fatores contextuais ainda são pouco contempladas nestes estudos havendo necessidade de novas pesquisas sobre o efeito das intervenções nestes componentes

The narrative epistemology and the clinical diagnosis practice

Made available in DSpace on 2010-08-23T16:00:20Z (GMT). No. of bitstreams: 2 license.txt: 1878 bytes, checksum: 4ab65ca798f15d32db061c8ec1b00ab1 (MD5) A espistemologia narrativa e o exercício.pdf: 443395 bytes, checksum: a58c99755ae87c79391227bb083ffd72 (MD5) Previous issue date: 2002Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética. Centro de Genética Médica José Carlos Cabral de Almeida. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Medicina Social. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética. Centro de Genética Médica José Carlos Cabral de Almeida. Rio de Janeiro, RJ, Brasil.Este trabalho objetiva contribuir para a discussão acerca das características narrativas do discurso clínico. Para tanto parte de uma revisão bibliográfica e da análise semiótica de prontuários do Centro de Genética Médica José Carlos Cabral de Almeida, do Departamento de Genética, do Instituto Fernandes Figueira, unidade materno-infantil da Fundação Oswaldo Cruz. Todos os prontuários utilizados são referentes a portadores da síndrome de Down atendidos no Ambulatório Especializado de Síndrome de Down da referida unidade. O artigo aborda: a questão da possível oposição entre narrativa e ciência; a apresentação dos principais autores e de seus trabalhos que versam sobre narrativa e conhecimento médico; a exemplificação da epistemologia narrativa embutida no discurso médico, via a apresentação de um prontuário, assim como de um heredograma. A conclusão enfatiza a importância da narrativa para o processo de diagnose e tratamento, assim como a construção de um enredo por parte do médico onde se fazem presentes complexas interações biológicas, culturais e sociais.This study aims to discuss the narrative epistemology contained in the medical practice. It was based upon a bibliographic review and a semiotic analysis of medical charts belonging to The Medical Genetic Center José Carlos Cabral de Almeida/Genetic Department/Fernandes Figueira Institute, a maternal-infant care unity of The Oswaldo Cruz Foundation. All the analysed charts referred to children diagnosed with Down syndrome that are being or were attended in the Down’s Syndrome Outpatient of the above cited unity. The article appraises: the question concerning the possible opposition between narrative and science; a review of multiple authors and their works about narrative and medical knowledge; the narrative epistemology contained in the clinical discourse, using as example of such assumption one chart and one pedigree. The conclusion highlights how narrative is important to the process of diagnosis and treatment, and affirms the construction of a plot, by the physician, where biological, social and cultural interactions make themselves present

A concepção de família e religiosidade presente nos discursos produzidos por profissionais médicos acerca de crianças com doenças genéticas

O estudo explora a influência de tradições culturais arraigadas na construção do discurso que médicos do Instituto Fernandes Figueira/Fundação Oswaldo Cruz produzem acerca das crianças com doenças genéticas associadas a malformações congênitas e ao retardo mental, assim como, as reflexões provocadas pelo convívio profissional com tais crianças. Os dados foram coletados através de entrevistas orais do tipo narrativa conversada e do material analisado semioticamente. Os resultados apontaram para quatro tradições culturais muito presentes no discurso médico: a norma, a razão, a família e a religiosidade judaico-cristã. Este artigo, contudo, centra-se nas duas últimas, enfatizando como a concepção da família, principalmente a mitificação da mãe, pode 'tornar invisível' a criança com uma doença genética, como também contribui para que a condição de mulher da mãe fique subestimada diante de sua maternidade. Tais noções imbricam-se com aquelas trazidas pelas tradições religiosas e influenciam as percepções médicas a respeito do paciente e de sua família

An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia

Abstract Background Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, characterized by congenital malformations and progressive BMF. Patients with FA usually present chromosomal aberrations when evolving to MDS or acute myeloid leukemia (AML). Thus, the cytogenetic studies in the bone marrow (BM) of these patients have an important role in the therapeutic decision, mainly in the indication for hematopoietic stem cell transplantation (HSCT). The most frequent chromosomal alterations in the BM of FA patients are gains of the chromosomal regions 1q and 3q, and partial or complete loss of chromosome 7. However, the significance and the predictive value of such clonal alterations, with respect to malignant progress, are not fully understood and data from molecular cytogenetic studies are very limited. Case presentation A five-year-old boy presented recurrent infections and persistent anemia. The BM biopsy revealed hypocellularity. G-banding was performed on BM cells and showed a normal karyotype. The physical examination showed to be characteristic of FA, being the diagnosis confirmed by DEB test. Five years later, even with supportive treatment, the patient presented severe hypocellularity and BM evolution revealing megakaryocyte dysplasia, intense dyserythropoiesis, and 11% myeloblasts. G-banded analysis showed an abnormal karyotype involving a der(9)t(9;11)(p24;q?22). The FISH analysis showed the monoallelic loss of ATM and KMT2A genes. At this moment the diagnosis was MDS, refractory anemia with excess of blasts (RAEB). Allogeneic HSCT was indicated early in the diagnosis, but no donor was found. Decitabine treatment was initiated and well tolerated, although progression to AML occurred 3 months later. Chemotherapy induction was initiated, but there was no response. The patient died due to disease progression and infection complications. Conclusions Molecular cytogenetic analysis showed a yet unreported der(9)t(9;11)(p24;q?22),der(11)t(9;11)(p24;q?22) during the evolution from FA to MDS/AML. The FISH technique was important allowing the identification at the molecular level of the monoallelic deletion involving the KMT2A and ATM genes. Our results suggest that this chromosomal alteration conferred a poor prognosis, being associated with a rapid leukemic transformation and a poor treatment response

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to <i>CDKN1C</i> Pathogenic Variants

Beckwith–Wiedemann syndrome spectrum (BWSp) is an overgrowth disorder caused by imprinting or genetic alterations at the 11p15.5 locus. Clinical features include overgrowth, macroglossia, neonatal hypoglycaemia, omphalocele, hemihyperplasia, cleft palate, and increased neoplasm incidence. The most common molecular defect observed is hypomethylation at the imprinting centre 2 (KCNQ1OT1:TSS DMR) in the maternal allele, which accounts for approximately 60% of cases, although CDKN1C pathogenic variants have been reported in 5–10% of patients, with a higher incidence in familial cases. In this study, we examined the clinical and molecular features of all cases of BWSp identified by the Spanish Overgrowth Registry Initiative with pathogenic or likely pathogenic CDKN1C variants, ascertained by Sanger sequencing or next-generation sequencing, with special focus on the neoplasm incidence, given that there is scarce knowledge of this feature in CDKN1C-associated BWSp. In total, we evaluated 21 cases of BWSp with CDKN1C variants; 19 were classified as classical BWS according to the BWSp scoring classification by Brioude et al. One of our patients developed a mediastinal ganglioneuroma. Our study adds evidence that tumour development in patients with BWSp and CDKN1C variants is infrequent, but it is extremely relevant to the patient’s follow-up and supports the high heterogeneity of BWSp clinical features associated with CDKN1C variants

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia

Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -> T, W22X, L496R, R548X, Q13X, R185X, and L554P) gene mutations. RESULTS: Mutations in FANCA and FANCC genes were identified in 6 (27.3%) and 14 (63.6%) out of 22 patients, respectively. The disease could not be attributed to the tested mutations in the two remaining patients enrolled in the study (9.1%). The registry of the two most prevalent gene abnormalities (delta3788-3790 and IVS4 + 4 -> T) revealed that they were present in 18.2% and 15.9% of the FA alleles, respectively. Additional FANCC gene mutations were found in the study, with the following prevalence: delta322G (11.4%), W22X (9.1%), Q13X (2.3%), L554P (2.3%), and R548X (2.3%) of total FA alleles. CONCLUSION: These results suggest that mutations of FANCA and FANCC genes are the most prevalent mutations among FA patients in Brazil