Evidence for an association of TP53 codon 72 polymorphism with breast cancer risk

BACKGROUND: A common Arg/Pro polymorphism at codon 72 of the TP53 gene has been investigated as a risk factor for cancer in different populations. So far, the results have been controversial. Our purpose was to investigate the association of this polymorphism with breast carcinoma in women from Southern Brazil, a high-risk area for breast cancer. METHODS: Blood samples collected from 118 women with primary breast carcinoma and from 202 female blood donors were analyzed through polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing. RESULTS: The relative frequency of each allele was 0.75 for Arg and 0.25 for Pro in patients with cancer, and 0.62 for Arg and 0.38 for Pro in normal controls (P < 0.001). The Arg/Arg genotype was significantly associated with an increased risk for breast cancer (OR 2.9; 95% CI 1.43-3.6; P < 0.002). No correlation between the genotype distribution and specific prognostic predictors for the disease outcome was observed. DISCUSSION: TP53 codon 72 polymorphism might be implicated in breast carcinogenesis, with the Arg/Arg genotype being associated with an increased susceptibility for this malignancy.     

Small, asymptomatic angiomyolipomas of the kidney

Ultrasound (US) detected 27 small, asymptomatic renal angiomyolipomas in 18 patients. Twenty-five lesions were diffusely hyperechoic and 2 were heterogeneous. Nephrotomography was positive in 8 out of 12 patients (67%), CT in 12/14 (86%), and angiography in 10/14 (71%). Percutaneous fine-needle biopsy confirmed the diagnosis in 8 out of 12 patients (67%). Nephrotomography and angiography were nonspecific, whereas CT and biopsy were most specific because of the presence of fatty tissue. Angiography helped clarify the degree of vascularity of the masses. If the diagnosis can be made preoperatively, more conservative management can be undertaken.     

Extracranial tumor vascularity: determination by dynamic CT scanning. Part II: The unit approach

Twenty-eight patients had combined conventional drip infusion CT scans. The information about the anatomic location of the lesion, its configuration, its cross-sectional appearance, its vascularity (as determined by dynamic signature curves), and its clinical presentation were considered as a single overall unit. This diagnostic approach allowed a diagnosis to be made on virtually all of these enhancing lesions without resorting to either a digital venous imaging study or angiographic procedure. In 17 of these cases, such an invasive second procedure was performed either to confirm the CT impression as part of this study or as part of a therapeutic embolization procedure.     

A model of the pre-assessment learning effects of assessment is operational in an undergraduate clinical context

Background

The Public Health (PH) course at the medical college of Cairo University is based on traditional lectures. Large enrollment limits students' discussions and interactions with instructors.

Aim

Evaluate students' learning outcomes as measured by improved knowledge acquisition and opinions of redesigning the Reproductive Health (RH) section of the PH course into e-learning and assessing e-course utilization.

Methods

This prospective interventional study started with development of an e-learning course covering the RH section, with visual and interactive emphasis, to satisfy students' diverse learning styles. Two student groups participated in this study. The first group received traditional lecturing, while the second volunteered to enroll in the e-learning course, taking online course quizzes. Both groups answered knowledge and course evaluation questionnaires and were invited to group discussions. Additionally, the first group answered another questionnaire about reasons for non-participation.

Results

Students participating in the e-learning course showed significantly better results, than those receiving traditional tutoring. Students who originally shunned the e-course expressed eagerness to access the course before the end of the academic year. Overall, students using the redesigned e-course reported better learning experiences.

Conclusions

An online course with interactivities and interaction, can overcome many educational drawbacks of large enrolment classes, enhance student's learning and complement pit-falls of large enrollment traditional tutoring.     

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

The clinical use of array comparative genomic hybridization in the evaluation of patients with multiple congenital anomalies and/or mental retardation has recently led to the discovery of a number of novel microdeletion and microduplication syndromes. We present four male patients with overlapping molecularly defined de novo microdeletions of 16q24.3. The clinical features observed in these patients include facial dysmorphisms comprising prominent forehead, large ears, smooth philtrum, pointed chin and wide mouth, variable cognitive impairment, autism spectrum disorder, structural anomalies of the brain, seizures and neonatal thrombocytopenia. Although deletions vary in size, the common region of overlap is only 90 kb and comprises two known genes, Ankyrin Repeat Domain 11 (ANKRD11) (MIM 611192) and Zinc Finger 778 (ZNF778), and is located approximately 10 kb distally to Cadherin 15 (CDH15) (MIM 114019). This region is not found as a copy number variation in controls. We propose that these patients represent a novel and distinctive microdeletion syndrome, characterized by autism spectrum disorder, variable cognitive impairment, facial dysmorphisms and brain abnormalities. We suggest that haploinsufficiency of ANKRD11 and/or ZNF778 contribute to this phenotype and speculate that further investigation of non-deletion patients who have features suggestive of this 16q24.3 microdeletion syndrome might uncover other mutations in one or both of these genes.     

Diverging associations of an intended early invasive strategy compared with actual revascularization, and outcome in patients with non-ST-segment elevation acute coronary syndrome: the problem of treatment selection bias

AIMS: In several observational studies, revascularization is associated with substantial reduction in mortality in patients with non-ST-segment elevation acute coronary syndrome (nSTE-ACS). This has strengthened the belief that routine early angiography would lead to a reduction in mortality. We investigated the association between actual in-hospital revascularization and long-term outcome in patients with nSTE-ACS included in the ICTUS trial. METHODS AND RESULTS: The study population of the present analysis consists of ICTUS participants who were discharged alive after initial hospitalization. The ICTUS trial was a randomized, controlled trial in which 1200 patients were randomized to an early invasive or selective invasive strategy. The endpoints were death from hospital discharge until 4 year follow-up and death or spontaneous myocardial infarction (MI) until 3 years. Among 1189 patients discharged alive, 691 (58%) underwent revascularization during initial hospitalization. In multivariable Cox regression analyses, in-hospital revascularization was independently associated with a reduction in 4 year mortality and 3 year event rate of death or spontaneous MI: hazard ratio (HR) 0.59 [95% confidence interval (CI) 0.37-0.96] and 0.46 (95% CI 0.31-0.68). However, when intention-to-treat analysis was performed, no differences in cumulative event rates were observed between the early invasive and selective invasive strategies: HR 1.10 (95% CI 0.70-1.74) for death and 1.27 (95% CI 0.88-1.85) for death or spontaneous MI. CONCLUSION: The ICTUS trial did not show that an early invasive strategy resulted in a better outcome than a selective invasive strategy in patients with nSTE-ACS. However, similar to retrospective analyses from observational studies, actual revascularization was associated with lower mortality and fewer MI. Whether an early invasive strategy leads to a better outcome than a selective invasive strategy cannot be inferred from the observation that revascularized patients have a better prognosis in non-randomized studies.