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1.
Int J Mol Sci ; 21(4)2020 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-32075053

RESUMO

We studied genomic alterations in 19 inflammatory breast cancer (IBC) patients with advanced disease using samples of tissue and paired blood serum or plasma (cell-free DNA, cfDNA) by targeted next generation sequencing (NGS). At diagnosis, the disease was triple negative (TN) in eleven patients (57.8%), ER+ Her2- IBC in six patients (31.6%), ER+ Her2+ IBC in one patient (5.3%), and ER- Her2+ IBC in one other patient (5.3%). Pathogenic or likely pathogenic variants were frequently detected in TP53 (47.3%), PMS2 (26.3%), MRE11 (26.3%), RB1 (10.5%), BRCA1 (10.5%), PTEN (10.5%) and AR (10.5%); other affected genes included PMS1, KMT2C, BRCA2, PALB2, MUTYH, MEN1, MSH2, CHEK2, NCOR1, PIK3CA, ESR1 and MAP2K4. In 15 of the 19 patients in which tissue and paired blood were collected at the same time point, 80% of the variants detected in tissue were also detected in the paired cfDNA. Higher concordance between tissue and cfDNA was found for variants with higher allele fraction in tissue (AFtissue ≥ 5%). Furthermore, 86% of the variants detected in cfDNA were also detected in paired tissue. Our study suggests that the genetic profile measured in blood cfDNA is complementary to that of tumor tissue in IBC patients.

2.
J Palliat Med ; 21(4): 541-545, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29298109

RESUMO

Since 2013, Kaiser Permanente Northern California has engaged in a systematic effort to elicit, document, and honor the care preferences of patients as they near the end of life. This is done through its Advanced Steps program, in which selected patients discuss their preferences for future medical care with their healthcare agent during a structured conversation with a trained advance care planning facilitator. The facilitator then translates the patient's wishes into an actionable medical order set using a Physician's Order for Life-Sustaining Treatment (POLST) form. We wanted to know whether these patients' recorded wishes were concordant with care received at the end of life. To evaluate, we conducted an in-depth chart review of 300 patients who died in 2015 and had participated in the program. We determined that 290 patients received concordant care, whereas three patients received care discordant with their wishes before death. Seven patients did not have sufficient information in their record to determine concordance. Interestingly, we found care preferences often changed over time; ∼20% of patients revised their end-of-life preferences after having the facilitated conversation, with most of those patients opting for less intensive care. Most changes to preferences were made verbally in the final setting of care. While advance care planning and the POLST form provide invaluable tools for recording patients' wishes, our study highlights a need to track patients' wishes as they evolve over time and a need for ongoing, real-time conversations about goals of care, even after a POLST is completed.


Assuntos
Planejamento Antecipado de Cuidados , Preferência do Paciente , Assistência Terminal , California , Progressão da Doença , Feminino , Humanos , Masculino
3.
Oncology ; 91(3): 135-42, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27355204

RESUMO

BACKGROUND: The predominant breast cancer subtypes, invasive lobular carcinoma (ILC) and invasive ductal carcinoma (IDC), have similar recurrence and survival rates but differing patterns of metastatic recurrence. METHODS: A retrospective review of breast cancers treated at an academic medical center from 1999 to 2012 was performed. Demographic, pathologic, treatment, and follow-up data were collected for 179 ILC and 358 IDC patients (1:2 stage-matched). The median follow-up was 4.7 years. RESULTS: The baseline characteristics were similar in the two groups. ILC was more likely to be hormone-receptor-positive/HER2-negative and mammographically occult. The number of surgical resections, breast conservation rate, systemic treatment, and taxane use was similar between the groups. The overall recurrence rate was the same. ILC recurred more often in the abdominal cavity (24.3% in ILC vs. 4.1% in IDC, p = 0.001). The disease-free survival and overall survival were equal. On multivariate analysis, age, stage of disease, hormone receptor status, and systemic therapy were associated with survival, but histology was not. CONCLUSIONS: Compared to ductal breast cancers, lobular breast cancers recur more often in the abdominal cavity. Both ILC and IDC have comparable surgical and medical treatment outcomes and survival. Our data suggest that enhanced surveillance and imaging might be useful in ILC.


Assuntos
Neoplasias Abdominais/secundário , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/secundário , Carcinoma Lobular/secundário , Recidiva Local de Neoplasia , Neoplasias Abdominais/terapia , Fatores Etários , Antineoplásicos/uso terapêutico , Neoplasias da Mama/terapia , Neoplasias da Mama Masculina/patologia , Neoplasias da Mama Masculina/terapia , Carcinoma Ductal de Mama/terapia , Carcinoma Lobular/terapia , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Mastectomia Segmentar , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/etiologia , Estadiamento de Neoplasias , Neoplasia Residual , Receptor ErbB-2/análise , Receptores Estrogênicos/análise , Receptores de Progesterona/análise , Estudos Retrospectivos , Taxa de Sobrevida
4.
Genetics ; 188(4): 897-905, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21596899

RESUMO

The development of an organism depends on individual cells receiving and executing their specific fates, although how this process is regulated remains largely unknown. Here, we identify a mechanism by which a specific cell fate, apoptosis, is determined through the cooperative efforts of Hox and E2F proteins. E2F transcription factors are critical, conserved regulators of the cell cycle and apoptosis. However, little is known about the two most recently discovered mammalian E2Fs-E2F7 and E2F8. In the nematode Caenorhabditis elegans, we identify a novel E2F7/8 homolog, EFL-3, and show that EFL-3 functions cooperatively with LIN-39, providing the first example in which these two major developmental pathways-E2F and Hox-are able to directly regulate the same target gene. Our studies demonstrate that LIN-39 and EFL-3 function in a cell type-specific context to regulate transcription of the egl-1 BH3-only cell death gene and to determine cell fate during development.


Assuntos
Proteínas de Caenorhabditis elegans/metabolismo , Caenorhabditis elegans/genética , Caenorhabditis elegans/metabolismo , Proteínas Correpressoras/metabolismo , Fatores de Transcrição E2F/metabolismo , Proteínas de Homeodomínio/metabolismo , Fatores de Transcrição/metabolismo , Sequência de Aminoácidos , Animais , Proteínas de Caenorhabditis elegans/genética , Morte Celular/genética , Diferenciação Celular/genética , Fatores de Transcrição E2F/genética , Regulação da Expressão Gênica no Desenvolvimento , Proteínas de Homeodomínio/genética , Dados de Sequência Molecular , Neurônios/citologia , Neurônios/metabolismo , Proteínas Repressoras/metabolismo , Alinhamento de Sequência , Fatores de Transcrição/genética
5.
Int J Plant Genomics ; 2009: 471853, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19609454

RESUMO

Compared with other cereal grains, Sorghum bicolor shows lower protein digestibility. The low digestibility is thought to result from disulfide cross linking in the beta- and gamma-kafirins. In contrast, the single recessive high digestibility/high lysine content (HD) mutation which confers greater grain digestibility exists in sorghum that is thought to result from reduced accumulation of gamma-kafirin that allows greater access to the high digestible alpha-kafarin fraction. In an effort to both clearly define the molecular basis for the HD trait and develop tools to improve the introgression of this difficult-to-screen trait, this study focuses on mapping the QTLs linked to this trait. While the HD trait has been defined as a single recessive gene, our results uncovered that two major QTLs on chromosome 1 are associated with protein digestibility-one QTL (locus 1 from the HD parent) unfavorably affects digestibility and one QTL (locus 2 from the HD parent) only 20 cM away favorably affects digestibility. A contrast analysis between genotypic groups at these two loci shows that a higher level of protein digestibility may be obtained when this linkage in repulsion is broken and favorable alleles are allowed to recombine.

6.
J Trauma ; 46(1): 80-86, Jan. 1999.
Artigo em Inglês | MedCarib | ID: med-1337

RESUMO

BACKGROUND: The 1997 edition of the Advanced Trauma Life Support (ATLS) course emphasized interactivity as its major change. The impact of this change is assessed in this study. METHODS: We compared two matched groups of 16 interns completing either the old (group I) or new (group II) ATLS course. Cognitive skills (40 standard ATLS questions plus 10 additional questions on airway and shock) and clinical trauma management skills (four trauma objective structured clinical examinations [OSCEs] on simulated trauma patients) were tested. OSCE station scores (standardized to a maximum of 20), priority scores (graded 1-7), organized approach global passing grades (graded 1-5), and initial assessment test station scores (graded 1-5) were compared. RESULTS: Using ATLS criteria, three interns failed in each group. Post-ATLS examination quesiton scores were similar (84.5 +/- 6.9 for group I, 85.9 +/- 7.1 for group II); scores for the airway and shock questions were higher but not different between the two groups. The four OSCE station mean scores varied between 13.9 +/- 2.0 and 15.4 +/- 2.1 for group I and were higher (P < 0.05) for group II (17.9 +/- 1.6 to 19.1 +/- 1.0). Priority scores were similar (group I, 6.3 +/- 1.1; group II, 6.4+/- 1.2), but approach scores (3.9 +/- 0.1 for group I and 4.9 +/- 0.8 for group II). There were 8 honors grades in group I and 40 (p < 0.05) in group II. Interactive teaching, adult education principles, opportunities for discussion, provision of feedback, and stimulation of self-learning were rated more highly in the new course. CONCLUSION: Using standard ATLS pass criteria, performance after the new and old ATLS courses was similar. Superior performances were measured using OSCE methodology for clinical trauma management skills after the new compared with the old ATLS course in this population of interns.(Au)


Assuntos
Humanos , Estudo Comparativo , Competência Clínica , Medicina de Emergência/educação , Internato e Residência/normas , Avaliação de Programas e Projetos de Saúde , Ensino/métodos , Cuidados para Prolongar a Vida , Inquéritos e Questionários , Trinidad e Tobago
7.
World J Surg ; 22(12): 1192-6, Dec. 1998.
Artigo em Inglês | MedCarib | ID: med-1341

RESUMO

We tested the effectiveness of a basic prehospital trauma life support (PHTLS) program by assessing cognitive performance and trauma management skills among prehospital trauma personnel. Fourteen subjects who completed a standard PHTLS course (group I) were compared to a matched group not completing a PHTLS program (group II). Cognitive performance was assessed on 50-item multiple choice examinations, and trauma skills management was assessed with four simulated trauma patients. Pre-PHTLS multiple choice questionnaire scores were similar (45 +/- 9.4 percent vs. 48.4 +/- 8.9 percent for groups I and II respectively), but the post-PHTLS scores were higher in group I (80.4 +/- 5.9 percent) than in group II (52.6 +/- 4.9 percent). Pre-PHTLS simulated trauma patient performance scores (standardized to a maximum total of 20 for each station) were similar at all four stations for both groups, ranging from 7.9 to 10.4. The post-PHTLS scores were statistically significantly higher at all four stations for group II (range 8.0 - 11.1). The overall mean pre-PHTLS score for all four stations was 8.3 +/- 2.1 for group I and 8.8 +/- 2.0 (NS) for group II; the group I post-PHTLS mean score for the four stations was 17.1 +/- 2.7 (p < 0.05) compared to 9.1 +/- 2.3 for group II. Pre-PHTLS Adherence to Priority scores on a scale of 1 to 7 were similar (1.1 +/- 0.9 for group I and 1.2 +/- 1.0 for group II). Post-PHTLS group I Priority scores increased to 5.9 +/- 1.1. Group II (1.1 +/- 1.0) did not improve their post-PHTLS scores. The pre-PHTLS Organized Approach scores in the simulated trauma patients on a scale of 1 to 5 were 2.1 +/- 1.0 for group I and 1.9 +/- 1.2 for group II (NS) compared to 4.2 +/- 0.9 (p < 0.05) in group I and 2.0 +/- 0.8 in group II after PHTLS. This study demonstrates improved cognitive and trauma management skills performance among prehospital paramedical personnel who complete the basic PHTLS program.(Au)


Assuntos
Humanos , Serviços Médicos de Emergência , Auxiliares de Emergência , Cuidados para Prolongar a Vida , Traumatologia/educação , Ferimentos e Lesões/terapia , Avaliação de Resultados em Cuidados de Saúde , Avaliação de Programas e Projetos de Saúde , Trinidad e Tobago
8.
West Indian med. j ; 43(2): 36-8, June 1994.
Artigo em Inglês | MedCarib | ID: med-8002

RESUMO

Indentification of trauma as a major cause of morbidity and mortality in Trinidad and Tobago prompted the establishment of a training programme aimed at improving trauma care in this developing country. An Advanced Trauma Life Support (ATLS) programme for physicians, funded through the Canadian International Development Agency resulted in a statistically significant improvement of in-hospital trauma patient outcome at the Port-of-Spain General Hospital (observed to expected mortality ratio of 3.16 pre-ATLS compared to 1.94 post ATLS). A recent analysis of all motor vehicle injuries for a shorter period did not confirm this positive impact of the ATLS programme, primarily because a large number of these patients died in the pre-hospital period. Pre-hospital trauma care therefore required urgent attention to complement the positive in-hospital impact of the ATLS programme. A second training programme (the Pre-Hospital Trauma Life Support or PHTLS) for paramedical personnel was thus instituted in 1990. Over 250 physicians have been trained in the ATLS programme and to date over 100 paramedical personnel have been trained in the PHTLS programme. Attempts have also been made to equip the ambulances with more appropriate resuscitative devices in order to improve pre-hospital care. The combination of the PHTLS and the ATLS programme should result in further improvement in the care of patients sustaining major injuries in Trinidad and Tobago. (AU)


Assuntos
Humanos , Traumatologia/educação , Serviços Médicos de Emergência , Ferimentos e Lesões , Trinidad e Tobago , Escala de Gravidade do Ferimento , Acidentes de Trânsito/mortalidade , Pessoal Técnico de Saúde/educação , Médicos , Mortalidade
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