Genetics and pharmacogenomics of diffuse gliomas.

Rapidly evolving techniques for analysis of the genome provide new opportunities for cancer therapy. For diffuse gliomas this has resulted in molecular markers with potential for personalized therapy. Some drugs that utilize pharmacogenomics are currently being tested in clinical trials. In melanoma, lung-, breast-, gastric- and colorectal carcinoma several molecular markers are already being clinically implemented for diagnosis and treatment. These insights can serve as a background for the promise and limitations that pharmacogenomics has for diffuse gliomas. Better molecular characterization of diffuse gliomas, including analysis of the molecular underpinnings of drug efficacy in clinical trials, is urgently needed. We foresee exciting developments in the upcoming years with clinical benefit for the patients.

Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features.

We report a boy with asymmetric crying facies and bilateral absence of the 5th ray of the feet. In addition, craniofacial computed tomography showed a solitary median maxillary central incisor in combination with a narrow apertura piriformis. To our knowledge this intriguing combination of congenital abnormalities has not been described before.

A literature review of the methodology of EMG recordings of the diaphragm.

INTRODUCTION: EMG measurements of the diaphragm (rEMG) provide insight in to ventilatory muscle activity. Applicability of these measurements has improved, but literature of the different rEMG measurement techniques is inconsistent. This makes it difficult to compare studies of rEMG technique. This study summarizes the current available literature on rEMG and focuses on the validation of the techniques. Furthermore, we propose to use validation criteria to improve the quality, for further research. METHODS: Pubmed, Ovid Medline and EMBASE were searched for studies describing rEMG experiments with transcutaneous (tc-rEMG) and/or transesophageal (te-rEMG) methods.Validation criteria included feasibility, repeatability, signal disturbance and ECG gating. RESULTS: 650 studies were eligible for reviewing; 211 were excluded, and 39 articles described the measurement technique and were analyzed according to the criteria. 194 studies referred to another paper with a description of the technique and 206 failed to describe the technique nor had references to it. CONCLUSIONS: Many studies showed neither a description of the technique used, nor a validation of this technique. Others referred to studies that described the measurement technique. We propose that future studies on rEMG measurements at least meet the above mentioned criteria, in order to be able to compare study results.