Spontaneous echo contrast of unexpected etiology.

Cor triatriatum sinister is a rare congenital anomaly characterized by the presence of a fibromuscular membrane dividing the left atrium into two chambers: one entering the four pulmonary veins, the other connecting to the mitral valve. The extent of the communication between the two chambers and the presence of associated lesions determine the severity of symptoms and the complications. We report the case of a 20-year-old man firstly diagnosed with obstructive cor triatriatum sinister and severe pulmonary hypertension.     

Bioactive glass for alveolar ridge augmentation

The restoration and recovery of the alveolar healing process are a challenge to dental surgeons to achieve satisfactory results at the osseointegration of implants and implant rehabilitation. Different operative technique and biomaterials are being used to reconstruct the framework of the alveolar process. One of the biomaterials used for this purpose is the bioactive glass. The aim of this study was to report clinical and histologic final results of 7 clinical reports of alveolar ridge augmentation using bioactive glass. Clinically, bioglass was able to maintain bone architecture of the alveolar bone and repaired satisfactory. Biopsy was performed on the histologic samples and showed bone formation in intimate contact to the particles of the biomaterial.     

Favorable Changes in Arterial Elasticity,Left Ventricular Mass,and Diastolic Function After Significant Weight Loss Following Laparoscopic Sleeve Gastrectomy in Obese Individuals

Background

Obesity is accompanied by increased arterial stiffness, left ventricular (LV) hypertrophy, and diastolic dysfunction, all associated with a negative prognosis. The evolution of LV mass, function, and arterial elasticity after laparoscopic sleeve gastrectomy (LSG) was unknown, and this is what we have investigated.

Methods

Thirty-four consecutive obese subjects (mean age, 39?±?11 years; 35.2 % men), scheduled for LSG, were studied before, at 6 and 12 months after surgery.

Results

The body mass index (BMI) decreased from 43.6?±?11.9 to 32.1?±?7.4 and to 28.9?±?5.8 kg/m² at 6 and 12 months after surgery (all p?<?0.05). The baseline LV mass index was correlated with age, BMI, waist circumference, blood glucose level, systemic hypertension stage, and with aortic distensibility, strain, and stiffness index (all p?<?0.05). Aortic distensibility increased by 110 %, aortic strain by 58 %, and aortic stiffness index decreased by 88 % at 6 months after LSG (all p _{6 months–baseline}?<?0.05) and all the parameters had similar values at 12 months postoperatively (all p _{12–6 months}?=?NS). LV hypertrophy prevalence decreased from 61.8 to 47.1 % and to 32.3 % at 6 and 12 months after surgery (all p?<?0.05). The proportion of patients with LV diastolic dysfunction decreased from 52.9 to 23.5 % at 6 months (p _{6 months–baseline}?<?0.01) and to 20.6 % at 12 months postoperatively (p _{12?–6 months}?=?0.7).

Conclusions

Significant improvements of aortic elasticity and of LV diastolic function were recorded at 6 months, and they were maintained at 12 months after LSG. The LV hypertrophy showed also a favorable evolution: it has been slightly improved 6 months after surgery and further ameliorated 1 year postoperatively.     

Rare germline mutations in PALB2 and breast cancer risk: a population-based study

Germline mutations in the PALB2 gene are associated with an increased risk of developing breast cancer but little is known about the frequencies of rare variants in PALB2 and the nature of the variants that influence risk. We selected participants recruited to the Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study and screened lymphocyte DNA from cases with contralateral breast cancer (n = 559) and matched controls with unilateral breast cancer (n = 565) for PALB2 mutations. Five pathogenic PALB2 mutations were identified among the cases (0.9%) versus none among the controls (P = 0.04). The first-degree female relatives of these five carriers demonstrated significantly higher incidence of breast cancer than relatives of noncarrier cases, indicating that pathogenic PALB2 mutations confer an estimated 5.3-fold increase in risk (95% CI: 1.8-13.2). The frequency of rare (<1% MAF) missense mutations was similar in both groups (23 vs. 21). Our findings confirm in a population-based study setting of women with breast cancer the strong risk associated with truncating mutations in PALB2 that has been reported in family studies. Conversely, there is no evidence from this study that rare PALB2 missense mutations strongly influence breast cancer risk.     

A phase 2 trial of erlotinib in patients with previously treated squamous cell and adenocarcinoma of the esophagus

BACKGROUND:

Tyrosine kinase inhibitors (TKIs) of the epidermal growth factor receptor (EGFR) have activity in solid tumors. The authors evaluated an oral EGFR TKI, erlotinib, in patients with previously treated esophageal cancer.

METHODS:

Thirty patients with measurable, metastatic cancer of the esophageal and gastroesophageal junction received 150 mg erlotinib daily. EGFR‐negative tumors (6 patients; 20%) and EGFR‐over expressing tumors (24 patients; 80%) were treated. Most patients were men (70%) with adenocarcinoma (57%) and had received previous chemotherapy (97%).

RESULTS:

Two partial responses were observe d in the EGFR‐positive cohort (2 of 24 patients; 8%), and no responses were observed in the EGFR‐negative cohort (0 of 6 patients). Reponses were limited to patients who had squamous cell carcinoma (2 of 13 patients; 15%; response duration, 5.5‐7 months). The time to tumor progression was longer in patients who had squamous cell carcinoma (3.3 months; range, 1‐24 months) compared with patients who had adenocarcinoma (1.6 months; range, 1‐6 months; P = .026). Therapy was tolerable with the expected toxicity of skin rash (grade 1‐2, 67%; grade 3, 10%).

CONCLUSIONS:

Erlotinib had limited activity in patients with esophageal cancer, and responses and some protracted stable disease were observed in those with squamous cell carcinoma. Efficacy according to EGFR status could not be assessed given the rarity of EGFR‐negative tumors. The current results indicated that further evaluation of this agent in squamous cell carcinoma is warranted. Cancer 2011. © 2010 American Cancer Society.     

Misspecification tests for binomial and beta-binomial models

The IOS test of Presnell and Boss (J. Am. Stat. Assoc. 2004; 99(465):216-227) is a general-purpose goodness-of-fit test based on the ratio of in-sample and out-of-sample likelihoods. For large samples, the IOS statistic can be approximated by a multiplicative contrast between two estimates of the information matrix, and in this way the IOS test is connected to White's (Econometrica 1982; 50:1-26) information matrix test, or IM test, which is based directly on the difference of two estimates of the information matrix. In this paper, we compare the performance of IOS to that of the IM test and of other goodness-of-fit tests for binomial and beta-binomial models, in both examples and simulations. Our findings suggest that IOS is strongly competitive, not only against the IM test but also against tests designed for specific binomial and beta-binomial models.