The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis

Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the case of a CF patient who was initially diagnosed at 16 years of age after presenting with mild respiratory compromise and pancreatic sufficiency. When genetic testing was first performed using a CF mutation panel, only a single F508del CFTR allele was identified. We subsequently performed testing, which revealed a previously unreported mutation: A457P (p.Ala457Pro, c.1369G>C). The patient's clinical course through adulthood is described, and genotype-phenotype correlation is discussed. The A457P mutation appears to confer a relatively mild phenotype, as is usually observed with CFTR class IV–VI defects. With the advent of more comprehensive and widely available genetic testing techniques, identification of CF genotypes in patients with milder disease variants may help stratify patients for targeted therapy and prevent late complications of the disease

Airway stent complications: the role of follow-up bronchoscopy as a surveillance method.

Background: Airway stenting has become an integral part of the therapeutic endoscopic management of obstructive benign and malignant central airway diseases. Despite increased use of airway stents and frequent stent-associated complications, no clear guidelines for surveillance and maintenance exist. This study aim is to elucidate predictive factors associated with development of stent complications, as well as an optimal surveillance period for follow-up bronchoscopy for early detection and possible prevention of stent-associated complications. Methods: Retrospective cohort study of all patients who underwent airway stent placements at our institution from April 2010 to December 2013 for benign and malignant airway diseases. Metallic, silicone (straight, Y stent, T-tube) and hybrid stents were included in the study. Stent complications were analyzed at the time of follow-up bronchoscopy performed four to six weeks after initial stent placement or earlier if patients became symptomatic. Results: The study included 134 patients of which 147 stents were placed. Follow-up bronchoscopy was performed in 94 patients. Symptomatic status at the time of follow-up bronchoscopy was not associated with stent complications [odds ratio (OR) =1.88; 95% CI: 0.79-4.45; P=0.15]. Patient age, sex, indication for stent placement, and stent location, were not associated with development of complications (all P\u3e0.05). Compared to all other stents, hybrid stents were more likely to migrate (OR =6.60; 95% CI: 2.16-20.2; P=0.001) or obstruct by secretions (OR =2.53; 95% CI: 1.10-5.84; P=0.03). There were no complications associated with surveillance bronchoscopy. Conclusions: Surveillance bronchoscopy within 4 to 6 weeks of stent placement may be useful for early detection of complications and their subsequent management, regardless of symptomatic status and indication for stent placement. Prospective multicenter studies are needed to compare optimal surveillance methods and the impact on patient mortality, morbidity and healthcare costs

Electromagnetic navigation transthoracic needle aspiration for the diagnosis of pulmonary nodules: A safety and feasibility pilot study

BACKGROUND: Pulmonary nodules remain a diagnostic challenge for physicians. Minimally invasive biopsy methods include bronchoscopy and CT guided transthoracic needle aspiration (TTNA). A novel electromagnetic guidance transthoracic needle aspiration (ETTNA) procedure which can be combined with navigational bronchoscopy (NB) and endobronchial ultrasound (EBUS) in a single setting has become available. METHODS: A prospective pilot study examining the safety, feasibility and diagnostic yield of ETTNA in a single procedural setting. All patients enrolled underwent EBUS for lung cancer staging followed by NB and ETTNA. Feasibility of performing ETTNA and a safety assessment by recording procedural related complications including pneumothorax or bleeding was performed. Diagnostic yield of ETTNA defined by a definitive pathologic tissue diagnosis was recorded. An additional diagnostic yield analysis was performed using a cohort analysis of combined interventions (EBUS + NB + ETTNA). All non-diagnostic biopsies were either followed with radiographic imaging or a surgical biopsy was performed. RESULTS: Twenty-four subjects were enrolled. ETTNA was feasible in 96% of cases. No bleeding events occurred. There were five pneumothoraces (21%) of which only two (8%) subjects required drainage. The diagnostic yield for ETTNA alone was 83% and increased to 87% (P=0.0016) when ETTNA was combined with NB. When ETTNA and NB were performed with EBUS for complete staging, the diagnostic yield increased further to 92% (P=0.0001). CONCLUSIONS: This is the first human pilot study demonstrating an acceptable safety and feasibility profile with a novel ETTNA system. Further studies are needed to investigate the increased diagnostic yield from this pilot study

The Grizzly, March 30, 2006

Dr. Edwards Presents Baden Lecture • Student Activism at Ursinus College: Can You Hear Us Now? WeCAN! • Drag Show at Ursinus Anything but a Drag • Circumcision Decision • Stereotypes and Self-Interest: Part Two • Living Off Campus More Trouble Than its Worth? • Brief Conversation with Of Montreal\u27s Kevin Barnes • Opinions: Reimert, a Place to Call Home; The Revolution Will be Printed; Tuition to Increase by $8,492 Next Year • Bears Sweep Eastern in Double Headerhttps://digitalcommons.ursinus.edu/grizzlynews/1710/thumbnail.jp

The Grizzly, February 8, 2007

WeCAN Protest for Workers\u27 Rights • Letters to the Editor • Class of \u2749 UC Alum Speaks on Women in World War II • Now That I\u27m Ready • What is an RA? • Note from the Editor: Facebook Fallacy • Nutrition Tips for the UC Student • UC Spotlight: UCEA • Opinions: The American Threat • Tumbling to Success • Rain, Rain and More Reignhttps://digitalcommons.ursinus.edu/grizzlynews/1730/thumbnail.jp

The Grizzly, September 7, 2006

WeCAN Kicks Off the School Year with a Protest for Workers\u27 Rights • Crocodile Hunter Killed by a Stingray • Freshmen Attend First Common Hour • Construction on Campus • Dell Announces Recall • Alternate Energy Sources Needed to Insure Globally-Sound Future • Stopping the Stork: Emergency Contraception • Women, Thou Art Loose: A Concise, Candid Discussion on Sluts, Smuts and Hoes • Opinions: The New Zack\u27s; Dylan Strikes Gold; We Want Water! • Men\u27s Soccer Looking for Breakout Season • Harper and Gibson Carry Bears to Home Opener Victoryhttps://digitalcommons.ursinus.edu/grizzlynews/1716/thumbnail.jp

Radiation Exposure of Patients by Cone Beam CT during Endobronchial Navigation - A Phantom Study

Rationale: Cone Beam Computed Tomography imaging has become increasingly important in many fields of interventional therapies. Objective: Lung navigation study which is an uncommon soft tissue approach. Methods: As no effective organ radiation dose levels were available for this kind of Cone Beam Computed Tomography application we simulated in our DynaCT (Siemens AG, Forchheim, Germany) suite 2 measurements including 3D acquisition and again for 3D acquisition and 4 endobronchial navigation maneuvers under fluoroscopy towards a nodule after the 8th segmentation in the right upper lobe over a total period of 20 minutes (min). These figures reflect the average complexity and time in our experience. We hereby describe the first time the exact protocol of lung navigation by a Cone Beam Computed Tomography approach. Measurement: The hereby first time measured body radiation doses in that approach showed very promising numbers between 0,98-1,15mSv giving specific lung radiation doses of 0,42-0,38 mSv. Main results: These figures are comparable or even better to other lung navigation systems. Cone Beam Computed Tomography offers some unique features for lung interventionists as a realtime 1-step navigation system in an open structure feasible for endobronchial and transcutaneous approach. Conclusions: Due to this low level of radiation exposure Cone Beam Computed Tomography is expected to attract interventionists interested in using and guiding endobronchial or transcutaneous ablative procedures to peripheral endobronchial and other lung lesions