Paul C. Johannesma

Prevalence of Birt–Hogg–Dubé syndrome in patients with apparently primary spontaneous pneumothorax

Pneumothorax is classified “spontaneous pneumothorax” if there is no external force causing it and is classified as “primary spontaneous pneumothorax” (PSP) if there is no underlying lung disease. According to the guidelines of the British Thoracic Society (BTS), “no underlying lung disease” is based on history, physical examination and chest radiography [1]. Birt–Hogg–Dubé syndrome is probably the cause of pneumothorax in 5–10% of primary spontaneous pneumothorax patients http://ow.ly/FiIGS

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

Birt–Hogg–Dubé syndrome (BHD) is an autosomal dominant condition due to germline FLCN (folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer. We identified a de novoFLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. Subsequently, typical skin features and asymptomatic renal cancer were diagnosed. Probably, de novo FLCN mutations are rare. However, they may be under-diagnosed if BHD is not considered in sporadic patients who present with one or more of the syndromic features. Genetic and immunohistochemical analysis of the renal tumour indicated features compatible with a tumour suppressor role of FLCN. The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies.

Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients

BackgroundBirt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clinical manifestations usually present in adults > 20 years of age.Case presentationsTwo non-related patients with (recurrent) pneumothorax starting at age 14 accompanied by multiple basal lung cysts on thoracic CT underwent FLCN germline mutation analysis. A pathogenic FLCN mutation was found in both patients confirming suspected BHD. The family history was negative for spontaneous pneumothorax in both families.ConclusionAlthough childhood occurrence of SP in BHD is rare, these two cases illustrate that BHD should be considered as cause of SP in children.

In-Flight Pneumothorax: Diagnosis May Be Missed because of Symptom Delay

Boyle’s law describes the inverse relationship between pressure and volume for gas in a closed system at constant temperature. On the basis of this mechanism, an air-filled lung cyst will increase in size in an environment with a lower atmospheric pressure. Patients with cystic lung disease might therefore be at risk of developing pneumothorax during air travel. Many persons have cystic changes in the lung, but the incidence of in-flight pneumothorax is low (1). This apparent discrepancy seems at first sight strange, but is in fact what one might expect. Any cystic airspace in the lung will not expand in size if connected to the bronchial tree, because there is no possibility to develop intracystic overpressure. However, if there is no, or a small, connection between an air-filled cyst and the bronchial tree, the cyst will increase in size by 25–30% (2), which may lead to rupture of the cyst. This is not sufficient for developing pneumothorax; the visceral pleura needs to rupture as well. This may occur if a cyst is adjacent to the visceral pleura. Whether this results immediately, with delay, or not at all in a symptomatic pneumothorax should logically depend on the extent of the damage. This may be limited to the cyst wall and covering visceral pleura, but may also involve the surrounding lung tissue. Subsequently this determines the size of the connection between the airways and the pleural cavity and through that the magnitude of transport of air into the pleural cavity. Therefore we hypothesize that a pneumothorax developed during air travel may become symptomatic hours, or more likely days, after air travel. We here report a patient with Birt-Hogg-Dubé (BHD) syndrome who traveled by air and later developed pneumothorax. Some of the results of the studies cited have been previously reported in the form of an abstract (3–6).

High risk of adverse events in hospitalised hip fracture patients of 65 years and older: results of a retrospective record review study

Objectives Hip fracture patients of 65 years and older are a complex patient group who often suffer from complications and difficult rehabilitation with disappointing results. It is unknown to what extent suboptimal hospital care contributes to these poor outcomes. This study reports on the scale, preventability, causes and prevention strategies of adverse events in patients, aged 65 years and older, admitted to the hospital with a primary diagnosis of hip fracture. Design, setting and outcome measures A retrospective record review study was conducted of 616 hip fracture patients (≥65 years) admitted to surgical or orthopaedic departments in four Dutch hospitals in 2007. Experienced physician reviewers determined the presence and preventability of adverse events, causes and prevention strategies using a structured review form. The main outcome measures were frequency of adverse events and preventable adverse events in hospitalised hip fracture patients of 65 years and older, and strategies to prevent them in the future. Results 114 (19%) of the 616 patients in the study experienced one or more adverse events; 49 of these were preventable. The majority of the adverse events (70%) was related to the surgical procedure and many resulted in an intervention or additional treatment (67%). Human causes contributed to 53% of the adverse events, followed by patient-related factors (39%). Training and close monitoring of quality of care and the health professionals performance were the most often selected strategies to prevent these adverse events in the future. Conclusions The high percentage of preventable adverse events found in this study shows that care for older hospitalised hip fracture patients should be improved. More training and quality assurance is required to provide safer care and to reduce the number of preventable adverse events in this vulnerable patient group.

Lung Cysts as Indicator for Birt–Hogg–Dubé Syndrome

AbstractIn this case, we describe a patient with a history of recurrent pneumothorax. Based on CT-thorax and histopathology of the lung tissue, the Birt–Hogg–Dubé syndrome was suspected and confirmed after genetic testing. Recognizing this syndrome by pulmonologists and radiologists is very important, because the risk on developing of renal cell cancer is high.

Patient safety in elderly hip fracture patients: design of a randomised controlled trial

BackgroundThe clinical environment in which health care providers have to work everyday is highly complex; this increases the risk for the occurrence of unintended events. The aim of this randomised controlled trial is to improve patient safety for a vulnerable group of patients that have to go through a complex care chain, namely elderly hip fracture patients.Methods/designA randomised controlled trial that consists of three interventions; these will be implemented in three surgical wards in Dutch hospitals. One surgical ward in another hospital will be the control group. The first intervention is aimed at improving communication between care providers using the SBAR communication tool. The second intervention is directed at stimulating the role of the patient within the care process with a patient safety card. The third intervention consists of a leaflet for patients with information on the most common complications for the period after discharge. The primary outcome measures in this study are the incidence of complications and adverse events, mortality rate within six months after discharge and functional mobility six months after discharge. Secondary outcome measures are length of hospital stay, quality and completeness of information transfer and patient satisfaction with the instruments.DiscussionThe results will give insight into the nature and scale of complications and adverse events that occur in elderly hip fracture patients. Also, the implementation of three interventions aimed at improving the communication and information transfer provides valuable possibilities for improving patient safety in this increasing patient group. This study combines the use of three interventions, which is an innovative aspect of the study.Trial registrationThe Netherlands National Trial Register NTR1562

Pneumomediastinum and Pneumopericardium Due to High-Speed Air Turbine Drill Used During a Dental Procedure

33-year-old woman with an unremarkable medical Ahistory underwent surgical extraction of a wisdom tooth (no. 48). For this procedure, a high-speed air turbine drill was used, which inflates air in the root canal. After this procedure, the patient had mild dyspnea, and a physical examination showed right-sided facial and neck swelling. Chest radiography confirmed subcutaneous emphysema of the neck, upper thorax, and axillary regions (arrows) (Fig 1). Computed tomography of the neck and chest (Fig 2) demonstrated air in the subcutaneous and visceral spaces in the mandibular area, mediastinum (arrow), and pericardium. Standard laboratory tests produced normal results. The patient was admitted to the intensive care unit for prophylactic antibiotic treatment and spontaneous air resorption. The

How reliable are clinical criteria in distinguishing between Birt–Hogg–Dubé syndrome and smoking as a cause for pneumothorax?

eliminates blur, enables convenient handheld operation, and thereby eliminates the need for bulky attachments. The software included with Windows Phone 8, namely, Microsoft Office, Sharepoint, SkyDrive, and Office 365, enables seamless, wireless integration and sharing via familiar servers and cloud storage. The Lumia 1020 stores images in several standard formats, including Joint Photographic Expert Group (JPEG) and uncompressed raw Digital Negative (raw DNG). We used an unmounted Lumia 1020 to take photomicrographs directly through a 910 ocular, using 910 and 940 objectives, and produced images with resolution and clarity comparable to those obtained with traditional photomicroscopes (Figures 1 and 2). The images, of colonic mucosa from a patient with human immunodeficiency virus infection, show fine details, including clearly demonstrated heterochromatin in nuclei of lymphocytes, paranuclear hofs of plasma cells, individual cytoplasmic granules of eosinophils and mast cells, central pallor of erythrocytes in luminal contents, and even intestinal spirochaetosis focally adherent to the epithelium. Furthermore, the high resolution and sophisticated processing allow for digital zooming up to five times the original magnification, with minimal or no perceived loss of resolution. We confirmed this ‘lossless zooming’ by performing a simple pinch-to-zoom manoeuvre on the image taken at low magnification, which instantaneously produced an image, still with sufficient resolution, that demonstrated spirochaetes, albeit with slightly lower quality than the image taken natively at high magnification. We conclude that the Nokia Lumia 1020 functions admirably as a photomicroscope, and, given the advantages of low cost, portability, convenience, an intuitive user interface, ‘lossless zoom’, and integration with Microsoft servers and cloud storage, in many ways outperforms traditional photomicroscopes.

Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer. Based on this clinical presentation, the patient was suspected for BHD syndrome, which was confirmed after molecular testing. We discuss the importance of recognizing this autosomal dominant cancer disorder when a patient is presented at the urologist with a positive family history of chromophobe renal cell cancer or a positive familial history for renal cell cancer and pneumothorax.