Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for a single disease. Head and neck paraganglioma (HNP) is caused by germline mutations of at least three succinate dehydrogenase subunit genes (SDHx). Mutation analysis for all 3 costs fUS$2,700 per patient. Genetic classification is essential for downstream management of the patient and preemptive management of family members. Utilizing HNP as a model, we wanted to determine predictors to prioritize the most heritable clinical presentations and which gene to begin testing in HNP presentations, to reduce costs of genetic screening. Patients were tested for SDHB, SDHC, and SDHD intragenic mutations and large deletions. Clinical parameters were analyzed as potential predictors for
The clinical relevance of the carcinoembryonic antigen (CEA), carbohydrate antigen (CA) 19-9, squamous cell carcinoma antigen (SCC), thymidine kinase (TK), and deoxythymidine-5'-triphosphatase (dTTPase) as tumor markers in the diagnosis and follow-up treatment of 26 patients with head and neck cancer is evaluated. Serum levels prior to treatment were found elevated just above the upper limit of normal in 46% (SCC), 15% (CEA), 12% (CA 19-9), 27% (TK), and 39% (dTTPase) of all patients. If all markers were taken into account, they were elevated in 73% of the untreated patients. However, only in a few cases were the tumor marker values elevated significantly (8%-12%). No significant correlation was detected between serum levels and tumor localization, staging, grading, or performance status for any of the markers. In the follow-up none of the markers tested revealed any disease-related information despite therapy variation. Patients with originally elevated marker levels showed decreasing and in some cases increasing values after primary therapy, although no tumor recurrence was detected. Even considering the results as preliminary due to the rather small sample size, they suggest that the routine assessment of CEA, CA 19-9, SCC, TK, and dTTPase serum levels is of limited practical value.
This study aimed to investigate in parallel changes in gustatory function, changes in morphology of the fungiform papillae, as well as changes in the shape and density of the vessels of the tip of the tongue in patients treated with chemotherapy, radiotherapy, or radiochemotherapy. Twenty patients (7 females and 13 males; age range: 42-78 years) with head and neck malignancies (hypopharynx, larynx, oropharynx, and parotid) treated with radiochemotherapy (n = 8), chemotherapy (n = 8), or radiotherapy (n = 4) were prospectively studied. In all patients, electrogustometry and contact endoscopy were performed. Radiotherapy-treated patients exhibited higher electrogustometry thresholds and greater alterations in the morphology and vascularization of the fungiform papillae than the other two groups. Radiochemotherapy patients had less pronounced changes of the electrogustometry threshold and fungiform papillae structure compared with radiotherapy patients. Chemotherapy alone caused less severe change in both electrogustometry threshold and fungiform papillae structure than radiotherapy or radiochemotherapy. Radiotherapy alone caused greater disorders of taste-related anatomic parameters and electrogustometry thresholds compared with chemotherapy and combined radiochemotherapy.
The nose is the prominent part of our face. Its look often determines a good part of its owner's image. Rhinophyma is a malformation of the nose of unknown etiology that is often mistakenly associated with drinking alcohol. This rare but definitely eye-catching nasal deformation has found interest not only among doctors but among poets and artists throughout the ages. We attempt to follow this disease from the old Maya culture up to the present century, using known pieces of art, as well as literary quotations.
Supplementary Table 1 Legends and References from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
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