RESUMEN
BACKGROUND: Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high breast cancer risk. For women carrying PALB2 mutations, knowing their carrier status could be useful in directing them towards effective cancer risk management and therapeutic strategies. We sought to determine whether morphological features of breast tumours can predict PALB2 germline mutation status. METHODS: Systematic pathology review was conducted on breast tumours from 28 female carriers of PALB2 mutations (non-carriers of other known high-risk mutations, recruited through various resources with varying ascertainment) and on breast tumours from a population-based sample of 828 Australian women diagnosed before the age of 60 years (which included 40 BRCA1 and 18 BRCA2 mutation carriers). Tumour morphological features of the 28 PALB2 mutation carriers were compared with those of 770 women without high-risk mutations. RESULTS: Tumours arising in PALB2 mutation carriers were associated with minimal sclerosis (odds ratio (OR)=19.7; 95% confidence interval (CI)=6.0-64.6; P=5 × 10(-7)). Minimal sclerosis was also a feature that distinguished PALB2 mutation carriers from BRCA1 (P=0.05) and BRCA2 (P=0.04) mutation carriers. CONCLUSION: This study identified minimal sclerosis to be a predictor of germline PALB2 mutation status. Morphological review can therefore facilitate the identification of women most likely to carry mutations in PALB2.
Asunto(s)
Neoplasias de la Mama/genética , Mutación de Línea Germinal , Proteínas Nucleares/genética , Proteínas Supresoras de Tumor/genética , Adulto , Proteína BRCA2/genética , Neoplasias de la Mama/patología , Proteína del Grupo de Complementación N de la Anemia de Fanconi , Femenino , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana Edad , RiesgoRESUMEN
Traumatic diaphragmatic injuries are usually caused by blunt trauma or penetrating injuries. The diagnosis may be delayed due to confusing clinical and radiographic findings. According to the results of a review of 25 cases, the diagnosis of diaphragmatic injury is more often delayed and requires more imaging studies in cases of blunt trauma than in cases of penetrating injury. Blunt injury is indicated by asymmetry of a hemidiaphragm or changing diaphragmatic levels, abdominal contents within the chest, diaphragmatic paresis, unexplained hemothorax, or multiple upper abdominal injuries. Penetrating injury is indicated by hemothorax or a missile or blade trajectory through or near the diaphragm. Usually, plain radiography shows initial evidence of traumatic diaphragmatic injury and prompts confirmatory imaging, which includes computed tomography, magnetic resonance imaging, barium studies, fluoroscopy, nuclear medicine, and ultrasound. Nevertheless, the diagnosis of traumatic diaphragmatic injury may be elusive and often can be made only during exploratory surgery.
Asunto(s)
Hernia Diafragmática Traumática/diagnóstico por imagen , Heridas no Penetrantes/diagnóstico por imagen , Heridas Penetrantes/diagnóstico por imagen , Adulto , Diagnóstico por Imagen , Femenino , Hernia Diafragmática Traumática/diagnóstico , Humanos , Masculino , Radiografía , Heridas no Penetrantes/complicaciones , Heridas Penetrantes/complicacionesRESUMEN
PURPOSE: To study the effect of barium sulfate on wound healing in the gastrointestinal tract of the rat. MATERIALS AND METHODS: Sixty rats weighing approximately 320 g were divided into four groups: Fifteen control rats had gastric, small-bowel, and colonic incisions; 15 rats had gastric incision; 15 rats had small-bowel incision; and 15 rats had colonic incision. Barium sulfate was placed into the incision before closure in all rats except those in the control group, and the effects were documented clinically and histopathologically for 3 months. Autopsy was performed in five rats from each group at 1, 4, and 12 weeks. The incisions in the rats receiving barium sulfate were compared with those in the control rats. RESULTS: There was no difference in the clinical course (weight gain, activity, and viability) between the control and experimental groups. Early and late autopsy findings and histopathologic grading of healing and inflammatory response were similar for both the control and experimental groups. CONCLUSION: Under the conditions of this study, the effect of barium sulfate on visceral transmural wound healing in the gastrointestinal tract of the rat was minimal.