RESUMO
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.
Assuntos
Carcinoma de Células Pequenas/genética , DNA Helicases/genética , Mutação/genética , Proteínas Nucleares/genética , Neoplasias Ovarianas/genética , Fatores de Transcrição/genética , Sequência de Bases , Linhagem Celular Tumoral , Exoma/genética , Feminino , Componentes do Gene , Humanos , Immunoblotting , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Dados de Sequência Molecular , Análise de Sequência de DNARESUMO
This paper explores the dynamic complexities that are triggered when a group member becomes pregnant. Through clinical illustrations taken from a weekly analytical group, the developmental processes and resonances found in such groups are discussed, alongside the technical challenges they pose on the leader. The scant literature on this topic and how it impacts on the therapeutic space is reviewed from individual and group analytic literature. This paper then extends the figuration of groups as types of metaphorical maternal container (Foulkes, 1964). In particular, this view is developed using the concept of primary maternal preoccupation (Winnicott, 1956) and simultaneously challenged with that of enclaves (O'Shaughnessy, 1992).
Assuntos
Gravidez/psicologia , Terapia Psicanalítica/métodos , Psicoterapia de Grupo/métodos , Encenação , Transtorno da Personalidade Borderline/psicologia , Transtorno da Personalidade Borderline/terapia , Conflito Psicológico , Mecanismos de Defesa , Feminino , Identidade de Gênero , Processos Grupais , Humanos , Liderança , Masculino , Comportamento Materno/psicologia , Metáfora , Apego ao Objeto , Relações Profissional-Paciente , Teoria Psicanalítica , Transferência PsicológicaRESUMO
OBJECTIVE: The aim was to evaluate three primer-probe sets and real-time polymerase chain reaction (PCR) for the detection of human cytomegalovirus (HCMV) in dental plaque from individual periodontal sites. STUDY DESIGN: Fifty subgingival plaque specimens from 13 healthy subjects (on average at least 2 healthy and 2 periodontal disease sites per subject) and 50 saliva specimens from 24 subjects, including 16 controls, were assessed using 3 primer-probe sets (polymerase [POL], glycoprotein B [gB], and US14) and real-time PCR. Kappa statistics were performed to measure agreement between the primer-probe sets. RESULTS: There was excellent agreement between the gB and POL primers in the detection of HCMV (kappa statistic = 0.85 [95% confidence interval 0.71-0.99]), yielding a prevalence of 4% (2 out of 50) at individual periodontal disease sites and a similar rate of 8.8% (3 out of 34) in saliva. CONCLUSION: Human cytomegalovirus was infrequently detected in dental plaque. Of 3 primer-probe sets evaluated, those targeting the POL and gB genes were more accurate in the detection of HCMV than that targeting US14.