Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

Ventilatory strategies in trauma patients

Lung injury in trauma patients can occur because of direct injury to lung or due to secondary effects of injury elsewhere for example fat embolism from a long bone fracture, or due to response to a systemic insult such as; acute respiratory distress syndrome (ARDS) secondary to sepsis or transfusion related lung injury. There are certain special situations like head injury where the primary culprit is not the lung, but the brain and the ventilator strategy is aimed at preserving the brain tissue and the respiratory system takes a second place. The present article aims to delineate the strategies addressing practical problems and challenges faced by intensivists dealing with trauma patients with or without healthy lungs. The lung protective strategies along with newer trends in ventilation are discussed. Ventilatory management for specific organ system trauma are highlighted and their physiological base is presented

Anesthetic management of craniosynostosis repair in patient with Apert syndrome

Apert syndrome is an autosomal dominant disease characterized by craniosynostosis, midface hypoplasia and syndactyly. In general, patients present in early childhood for craniofacial reconstruction surgery. Anesthetic implications include difficult airway, airway hyper-reactivity; however, possibility of raised intracranial pressure especially when operating for craniosynostosis and associated congenital heart disease should not be ignored. Most of the cases described in literature talk of management of syndactyly. We describe the successful anesthetic management of a patient of Aperts syndrome with craniosynostosis posted for bicornual strip craniotomy and fronto-orbital advancement in a 5-year-old child

Anesthetic management of a 2-day-old with complete congenital heart block

Maternal connective tissue disorders such as Systemic Lupus Erythematosus (most common), Sjogren′s syndrome, mixed connective tissue disorders may lead to the rare condition of complete congenital heart block in the neonate. Rare fetal syndromes such as myocarditis, 18p syndrome, mucopolysaccharidoses and mitochondrial diseases are other causes. The mortality rate of this condition is inversely propotional to the age of presentation being 6 % in the neonatal age group. As the cardiac output in the neonate is heart rate dependent, it is crucial to maintain the heart rate in these patients. Pharamacological interventions with dopamine, isoprenaline, epinephrine and atropine are known for their variable response. Although permanent pacing is the most reliable mode of management, the access to it is often not readily available, especially in the developing countries. In such cases temporary pacing methods become lifesaving. Of all the modalities of temporary pacing (transcutaneous, transesophageal and transvenous) transcutaneous pacing is the most readily available and immediate mode. In this case report we present a two day old neonate with isolated complete congenital heart block and a resting heart rate of 50-55/min in immediate need of palliative surgery for trachea-esophageal fistula (TEF). With pharmacological intervention the heart rate could only be raised to 75-80/min. The surgery was successfully carried out using transcutaneous pacing to maintain a heart rate of 100/min

Parturient with double outlet right ventricle without pulmonary stenosis: Perioperative management

Double outlet right ventricle (DORV) is a rare cardiac condition in which the heart demonstrates single ventricle physiology. The management of these patients depends upon the presence or absence of pulmonary stenosis. They can present as congestive cardia failure on one end and as cyanotic disease on the other extreme. We present a case of DORV without pulmonary stenosis for cesarean section and highlight specific management issues in these patients

Students' participation in collaborative research should be recognised

Letter to the editor