Development of a Comprehensive NGS Workflow for the Analysis of Tumor BRCA1 and BRCA2 Mutations and Large Rearrangements
Zhengwei Dong, Hua Dong, Xiaorong Zhong, Zuxiang Peng, Xuehua Zhu, Yun Sun, Yunqin Chen, Changting Liu, Xiaolu Yin, Guanshan Zhu, Hong Zheng and Yi Gu
Article Type: Research Article | First Published: September 28, 2015
Patients with germ line or somatic BRCA1 and BRCA2 mutations are sensitive to PARP inhibitor treatment. However, current clinical testing of BRCA1/2 is limited to germ line mutations in blood samples. In the present study, we have developed and validated a work flow for BRCA1/2 mutation test in patient tumor samples, which can identify both germ line and somatic mutations. Our approach combined targeted capturing with the BRCA MASTR assay and consequent sequencing using Miseq, a benchtop next-generation sequencing (NGS) platform....
Enhanced Detection of Longer Insertions and Deletions in Clinical Exome Sequencing Improves Diagnostic Yield
Deepali N. Shinde, Jefferey Chen, Soren Fischbach, David J. Salvador, Kelly Farwell, Hsiao-Mei Lu and Sha Tang
Article Type: Research Article | First Published: September 17, 2015
Whole exome sequencing (WES) has been remarkably successful as both a diagnostic and novel gene discovery tool since its introduction to the clinical laboratory in 2011. Where traditional diagnostic methods have been uninformative in discovering the pathogenic etiology in patients, diagnostic exome sequencing (DES) has provided answers for roughly one-third of patients tested, thus contributing to the management of patients' overall healthcare. Single nucleotide variants are generally efficiently identified by DES in well-covered exonic regions....
Patient Health Literacy and Perception of Provider Communication: Is there a Link?
Erin Vaughn, Kristie Hadden and Benjamin Doolittle
Article Type: Research Article | First Published: October 21, 2015
Inadequate health literacy is a common problem that contributes to poor patient-provider communication. Health literacy screening and specific provider communication practices may be important in clinics where patients are at high risk for inadequate health literacy. This study assessed patients' health literacy and their perception of provider communication practices in a primary care residency program clinic serving an urban multi-ethnic population. A convenience sample of 324 patients in an urban-based primary care practice was surveyed for health literacy and their perception of physician ...
Safeguarding Public Health from Higher Education
Article Type: Perspective | First Published: October 19, 2015
It is common to assume that colleges and universities provide service to the public. In the U.S., these institutions are granted tax-exemption on this assumption. In times long past, education, in itself, may have been a public service. But it isn't that anymore as the unintended consequences of progress degrade human habitat and social fabric. Education for progress could easily do more harm than good....
Getting them off the Path toward Chronic Disease: Understanding One NJ Community College Students' Food Choices and Eating Habits
Article Type: Review Article | First Published: October 15, 2015
Researchers has shown that dietary patterns of many college students predispose them to future health problems and the epidemic of overweight and obesity is prevalent among many students in the United States. Getting community college students off the path to diet related diseases such as type 2 diabetes, heart disease, stroke, some cancers and changing their lifestyle choices so they become generally more healthy requires that we understand how they eat, their levels of physical activity, as well as their daily caloric intake, and their interaction with foods....
Provider's Perspectives on Cultural Competence in Ethnically Diverse Primary Care Practices
Mary A Matteliano and Debra Street
Article Type: Research article | First Published: October 14, 2015
This study explores how frontline healthcare providers describe and understand the delivery of culturally competent care to underserved groups in three neighborhood primary health care practices. Data from fifty intensive interviews and observations at three field sites in a multi-year study are analyzed using grounded theory techniques. Findings show that providers used a range of deliberate strategies-from establishing provider/patient concordance, to finessing language issues, practicing cultural humility, being in the trenches and enacting patient advocacy-to bridge cultural gaps with thei...
The Availability of Ultrasound for Infants with Developmental Dysplasia of the Hip in Pennsylvania
Shane Lavin and William Hennrikus
Article Type: Original Research | First Published: October 13, 2015
Currently, The American Academy of Pediatrics (AAP) recommends that serial clinical examinations using the Ortolani and Barlow Technique be performed of the hips of all infants at birth and at well baby examinations until the child is of walking age-about 1 year of life. In addition, the AAP recommends hip imaging with ultrasound (U.S.) at six weeks of life for female infants born in the breech position despite a normal physical examination for hip instability. Lastly, the AAP recommends optional U.S. hip imaging at six weeks of age for boys born in the breech position or girls with a positive...
Nasal Glomangiopericytoma: Case Report and Clinicohistopathologic Overview
Sheldon P. Hersh and William H. Rodgers
Article Type: Case Report | First Published: September 25, 2015
Glomangiopericytoma, also known as sinonasal hemangiopericytoma, is a rare sinonasal neoplasm that commonly occurs during the sixth or seventh decade of life, often presenting with complaints of nasal congestion and epistaxis. Identified in less than 0.5% of all sinonasal tumors, this typically indolent lesion is a different tumor from the far more common and aggressive so-called soft tissue hemangiopericytoma that arises in varying sites throughout the body....
A Rare Clinical Presentation of a Somewhat Common Lesion
Steve Manzon, Malcolm Zola, Jared S Weiner, Rawle F Philbert, Kevin R. Torske, Donald B MacDougall, and Daniel Nadeau
Article Type: Case Report | First Published: September 18, 2015
Clinicians are often faced with diagnosing routine oral and maxillofacial pathology. Experience and training make such tasks relatively easy. Establishing differential diagnoses, and ruling out the most unlikely, usually will lead to an appropriate treatment plan. Occasionally, a pathologic presentation may significantly differ from the expected, and stump even an experienced clinician. It is imperative, when encountering an unknown or unusual lesion, to return to basics and approach the entity with the same systematic work-up approach we were trained to perform since entering residency traini...