Long Term Complications of Septal Dermoplasty in Hereditary Hemorrhagic Telangiectasia Patients

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu Syndrome is a phenotypically variable genetic disorder of angiogenesis. Many ethnicities are affected though generally the disease is believed to be most common in the Caucasian population (1). Originally incidence of HHT was estimated at 1-2 per 100,000; however, more recent epidemiological studies have been performed indicating that the disease is more common with an incidence closer to 1-2 per 10,000. These numbers vary significantly over different geographical areas. For example, studies in the Akita region of Japan record HHT incidence at 1 in 5000-8000 which is comparable to the numbers reported from Fyn County Denmark, and also to some reported studies from American and European populations (2, 3). In contrast, incidence has been reported to be as high as 1:2351 in the Haut Jura region of France (4, 5), and 1 in 1331 in the Afro-Caribbean population of the Netherlands Antilles (6, 7). The mode of disease transmission is autosomal dominant, affecting both genders equally. Penetrance has been estimated at 97% to 100% and is age dependent with clinical manifestations appearing progressively over the patients lifetime. Nearly 100% of patients will display the disease phenotype prior to 40 years of age (8, 9). In addition, 20% of the patients have a negative family history illustrating the contribution of spontaneous mutations, variability in individual clinical manifestations, and insufficient screening of the family members (1)

Sample collection for laboratory-based study of the nasal airway and sinuses: a research compendium

Collection of biologic samples from the nasal cavity and paranasal sinuses is of critical importance to the study of infectious or inflammatory conditions that affect both upper and lower airways. Numerous techniques for the study of ex-vivo samples exist, with specific applications, strengths, and weaknesses associated with each of them. In this compendium we summarize the available methods for collection of primary human samples and incorporate expert discussion of the pros, cons, and applications associated with each technique. An expert panel containing members of the American Rhinologic Society's Research and Grants Committee compiled this educational reference. Rationale for use and the potential advantages and disadvantages are discussed. Research protocols and key references are enumerated. Sampling of the nasal cavity and paranasal sinuses can be achieved through a number of methods. Nonspecific sinonasal secretions may be collected via forced exhalation, nasal lavage, and nasal spray aspiration. Targeted collection of sinonasal secretions may be achieved via endoscopic placement of absorbent matrices. Nasal cytology or collection of superficial epithelium may be completed via brushing or scraping of endonasal structures. Collection of mucosal biopsies may be completed via sinonasal explant or full-thickness biopsy. Multiple sampling techniques are available to collect biologic samples from the sinonasal cavity. These techniques differ in their ease of application, reproducibility, sample yield, and utility for different sinonasal pathologies or research goals. An appreciation of the benefits and drawbacks of each approach will allow investigators to select the techniques most appropriate for achieving research objectives