Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy.

Cascade predictive genetic testing is available for many families as a means to identify individuals at risk of long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). The general issue of offering predictive genetic testing to minors has been an area of ethical debate among genetic counselors and other healthcare professionals for many years. An online questionnaire was circulated to four international genetic counseling associations to assess the views of cardiac genetic counselors regarding when to offer predictive genetic testing to children at risk of LQTS, CPVT, HCM, and ARVC. Analysis was both quantitative and qualitative. The study sample comprised 98 respondents. The majority reported that they offer predictive genetic testing before 5 years of age to children at risk of LQTS (83%) and CVPT (75%) and before 10 years of age to children at risk of HCM (66%) or ARVC (70%). Influencing factors included country of practice, clinical setting, and years of experience. The rationale provided for when to offer predictive genetic testing is encompassed by the ethical principles of beneficence, non-maleficence, autonomy, and informed consent. In conclusion, significant practice variation exists among cardiac genetic counselors regarding predictive genetic testing for children at risk of an inherited cardiomyopathy. These variations call for more research in the area to assist with the development of evidence-based guidelines.

Evolution of ramucirumab in the treatment of cancer - A review of literature.

Ramucirumab is a recombinant human monoclonal antibody and is used in the treatment of advanced malignancies. Its mechanism of action is by inhibiting angiogenesis in tumor cells by targeting the vascular endothelial growth factor receptor 2. United States Food and Drug Administration (FDA) approved it initially in 2014 for the treatment of advanced gastric or gastro-esophageal junction adenocarcinoma and metastatic non-small cell lung carcinoma. It was approved by FDA in 2015 for the treatment of advanced colorectal cancer. This manuscript consolidates pre-clinical trials to phase I, II, and III trial data indicating the effects of ramucirumab on different cancer types, which led to its approval. By comparing these clinical trials alongside each other, we can more easily examine the studies that have already been completed, along with currently ongoing studies and potential further areas of interest for this newly approved treatment. This approach makes it convenient to compare dosages, overall survival, adverse events, as well as possible routes for combination therapy with ramucirumab. By compiling results for various oncological malignancies, we can differentiate between treatments that are effective and have the highest incidence of stable disease, and those that do not seem promising. Ramucirumab has been effective in the treatment of various carcinomas and this article outlines other tumors in which this treatment option may be successful.

Synchronous Diagnosis of Multiple Myeloma, Breast Cancer, and Monoclonal B-Cell Lymphocytosis on Initial Presentation.

The cooccurrence of more than one oncologic illness in a patient can present a diagnostic challenge. Here we report an unusual case of concomitant existence of multiple myeloma, breast cancer, and monoclonal B-cell lymphocytosis on initial presentation. The challenge was to accurately diagnose each disease and stage in order to maximize the therapeutic regimen to achieve cure/remission. Successful management of the patient and increased life expectancy can be achieved by multidisciplinary management and patient-oriented approach in multiple primary malignant synchronous tumors.

A Rare Case of Undifferentiated Carcinoma of the Colon with Rhabdoid Features: A Case Report and Review of the Literature.

Malignant rhabdoid tumors were originally described in children. Subsequently, the same histological pattern was described in adults. Malignant rhabdoid tumors are aggressive neoplasms that have been reported in multiple organs. To our best knowledge, only 16 previous cases of rhabdoid tumor in the colon have been described in the literature. We present the case of an 87-year-old lady who was diagnosed with a rhabdoid tumor of the colon that relapsed rapidly after surgical resection. The literature concerning this unusual neoplasm was subsequently reviewed with comparison of all known cases in the literature.

Presentation, diagnosis, and medical management of heart failure in children: Canadian Cardiovascular Society guidelines

Pediatric heart failure (HF) is an important cause of morbidity and mortality in childhood. This article presents guidelines for the recognition, diagnosis, and early medical management of HF in infancy, childhood, and adolescence. The guidelines are intended to assist practitioners in office-based or emergency room practice, who encounter children with undiagnosed heart disease and symptoms of possible HF, rather than those who have already received surgical palliation. The guidelines have been developed using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology, and are accompanied by practical Recommendations for their application in the clinical setting, supplemented by online material. This work does not include Recommendations for advanced management involving ventricular assist devices, or other device therapies.

Use of intra-arterial multi-detector row CT angiography for the evaluation of an ischaemic limb in a patient with renal impairment.

The vastly improved scanning speed and z-axis resolution afforded by multi-detector technology has allowed CT to refine its traditional roles and to explore many new applications in imaging. We present a case report of a patient with renal failure and an ischaemic leg, which illustrates a useful new CT vascular imaging application. By carrying out 16-channel multi-detector row CT angiography through a sheath introduced into the common femoral artery, we obtained a high-quality angiographic image of the affected leg, using only 30 mL of iodinated contrast material. The examination definitively showed the number, distribution and patency of the tibial run-off arteries, with significant influence on the patient's subsequent clinical management. This simple and relatively minimally invasive technique is useful in peripheral vascular imaging, when conventional CT angiography using a large volume of i.v. contrast and MR angiography are unsuitable or unavailable.

Age influence on intestinal taurine transport in mice.

Taurine plays a role in neurologic development and neuromuscular function. The high need for taurine during development, and the low capacity for endogenous biosynthesis make its intestinal handling very important. In this in vitro study, we investigated the uptake of taurine by intestinal strips obtained from adult, 10-day and 20-day-old mice. Intestinal strips from adult, 10-day and 20-day-old mice accumulated taurine against a concentration gradient. Moreover, the capacity of the intestinal cells to concentrate taurine decreased with age. A major component of the transport process was carrier-mediated and Na-dependent. Analysis of the kinetics of taurine uptake revealed that Vmax decreased as the animals grow older without a significant change in apparent Kt. It is concluded that as mice grow older their intestinal capacity to absorb taurine decreases.

Role of motilin in the control of intestinal absorption, and gastric and biliary secretions in the rat.

The effects of motilin on proline absorption and gastric and biliary secretions were examined in the rat. Prolonged intravenous administration of motilin (50 pmol/kg/min) significantly inhibited (P < 0.05) proline transport across the jejunum and reduced basal acid secretion to 40% of control value. The same concentration of motilin induced choleresis and increased bile output by 32%. Incubation of intestinal strips with different concentrations of motilin produced a dose-dependent inhibitory pattern of proline accumulation in the intestinal cells.

Functional and structural changes in the jejunum of the rat following cysteamine and stress-induced duodenal ulcer.

The effects of cysteamine and stress-induced duodenal ulcer on the functional and structural properties of the rat jejunum were investigated. The absorptive capacity of the jejunum was determined using alanine as the permeant solute and the single-pass perfusion technique. A statistically significant decrease (p < 0.01) in alanine absorption was observed after 8 h and 3 days of duodenal ulcer induction by stress and cysteamine respectively. However, alanine transport measured 7 days after cysteamine or stress ulcer induction showed no significant change from control values. Cysteamine and stress-induced duodenal ulcer did not show any significant change in water absorption across the jejunum when measured after 8 h, 3 and 7 days of ulcer induction. Microscopically, the jejunum of rats with 3-day cysteamine-induced ulcer exhibited diffuse type of apical derangements with excessive swelling of the villi and progressive degenerative changes. No such changes were noticed on the 7th day nor in the jejunum of the rats with stress-induced duodenal ulcer. The results suggest that cysteamine-induced duodenal ulcer produces an inhibition in the absorptive capacity of the jejunum which is time-dependent and reversible.