Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.

Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia of the jaws, bone fragility, and diaphyseal cortical thickening and bowing of long bones. We present a family with previously undiagnosed GDD. The disorder was identified by the characteristic gnathic and skeletal manifestations in the father. Clinical and radiologic examination of the patient's son also revealed the characteristic features of GDD. Gene sequencing revealed a novel mutation (c. 1067 G>A, p. Cys356 Tyr) in the ANO5 gene, which is causative for GDD. This mutation was predicted to be detrimental by computational analyses and by structural modeling of the protein. The implications for recognition and management of this disease are discussed.

Comparison of dental health of patients with head and neck cancer receiving IMRT vs conventional radiation.

OBJECTIVE: To analyze the dental health of patients with head and neck cancer who received comprehensive dental care after intensity-modulated radiation therapy (IMRT) compared with radiation therapy (RT). STUDY DESIGN: Historical cohort study. SETTING: Veteran Affairs (VA) hospital. SUBJECTS AND METHODS: In total, 158 patients at a single VA hospital who were treated with RT or IMRT between 2003 and 2011 were identified. A complete dental evaluation was performed prior to radiation treatment, including periodontal probing, tooth profile, cavity check, and mobility. The dental treatment plan was formulated to eliminate current and potential dental disease. The rates of dental extractions, infections, caries, mucositis, xerostomia, and osteoradionecrosis (ORN) were analyzed, and a comparison was made between patients treated with IMRT and those treated with RT. RESULTS: Of the 158 patients, 99 were treated with RT and 59 were treated with IMRT. Compared with those treated with IMRT, significantly more patients treated with RT exhibited xerostomia (46.5% vs 16.9%; P < .001; odds ratio [OR], 0.24; 95% confidence interval [CI], 0.11-0.52), mucositis (46.5% vs 16.9%; P < .001; OR, 0.24; 95% CI, 0.11-0.52), and ORN (10.1% vs 0%; P = .014; OR, 0.07; 95% CI, 0.00-1.21). However, significantly more patients treated with IMRT were edentulous by the conclusion of radiation treatment (32.2% vs 11.1%; P = .002; OR, 3.8; 95% CI, 1.65-8.73). CONCLUSION: Patients who were treated with IMRT had fewer instances of dental disease, more salivary flow, and fewer requisite posttreatment extractions compared with those treated with RT. The number of posttreatment extractions has been reduced with the advent of IMRT and more so with a complete dental evaluation prior to treatment.

Panoramic radiographs of head and neck cancer patients are often evidence of carotid artery atherosclerotic lesions: a sign of high-risk comorbid illness.

PURPOSE: The purpose of this study was to estimate the prevalence and identify the risk factors for calcified carotid artery plaque (CCAP) in patients with squamous cell carcinoma of the head and neck. MATERIALS AND METHODS: Radiographs of 48 consecutive patients were evaluated for CCAP and their medical histories reviewed for the anatomic extent of cancer (staging) and atherogenic risk factors (age, extent of alcohol and tobacco use, body mass index, hypertension, dyslipidemia, and diabetes mellitus). RESULTS: Unilateral or bilateral CCAPs were found in 52.1% of subjects (mean age, 61.5 years). Hypertension was seen in a larger percentage (60%; P = .049) of subjects with CCAP on their radiographs compared with those without CCAP (30.4%). No other atheroma risk factors or stage of cancer differed significantly between those with and those without CCAP. CONCLUSION: Panoramic radiographs of patients with squamous cell carcinoma of the head and neck show a very high rate of CCAP, a marker of comorbid vascular diseases that may cause treatment complications and affect overall survival.

Curcumin treatment suppresses IKKß kinase activity of salivary cells of patients with head and neck cancer: a pilot study.

PURPOSE: To determine whether curcumin would inhibit IκB kinase ß (IKKß) kinase activity and suppress expression of proinflammatory cytokines in head and neck squamous cell carcinoma cancer (HNSCC) patients. EXPERIMENTAL DESIGN: Saliva was collected before and after subjects chewed curcumin tablets. Protein was extracted and IKKß kinase activity measured. Interleukin (IL)-6 and IL-8 levels in the salivary supernatants were measured by ELISA. IL-6, IL-8, and other interleukin were also measured independently with ELISA to confirm the inhibitory effect of curcumin on expression and secretion of salivary cytokines. RESULTS: Curcumin treatment led to a reduction in IKKß kinase activity in the salivary cells of HNSCC patients (P < 0.05). Treatment of UM-SCC1 cells with curcumin as well as with post-curcumin salivary supernatant showed a reduction of IKKß kinase activity. Significant reduction of IL-8 levels (P < 0.05) was seen in post-curcumin samples from patients with dental caries. Although there was reduced IL-8 expression in 8 of 21 post-curcumin samples of HNSCC patients, the data did not reach statistical significance. Saliva samples from HNSCC patients were also analyzed in a blinded fashion for expression of cytokines. IL-10, IFN-γ, IL-12p70, and IL-2 clustered together, and granulocyte macrophage colony stimulating factor and TNF-α clustered together. Log10 ratio analysis showed decrease in expression of all nine cytokines in both the salivary supernatant and salivary cells of curcumin-treated samples. CONCLUSIONS: Curcumin inhibited IKKß kinase activity in the saliva of HNSCC patients, and this inhibition correlated with reduced expression of a number of cytokines. IKKß kinase could be a useful biomarker for detecting the effect of curcumin in head and neck cancer.

The relationship between measures of nutritional status and masticatory function in untreated patients with head and neck cancer.

PURPOSE: Nearly 40% of newly diagnosed patients with head and neck cancer are malnourished before treatment begins with many researchers ascribing the malnutrition to a paucity of teeth. We attempted to determine if inadequate numbers of occluding pairs of teeth, rather than mere numbers of teeth, in newly hospitalized, untreated head and neck cancer patients correlates with nutritional status parameters used to identify those at heightened risk for malnutrition-related complications. PATIENTS AND METHODS: Patients and cancer-free, matched controls were evaluated for malnutrition (body mass index < or = 20 [weight (kg)/height (m2)]), serum albumin < or = 2.7 g/dL, hemoglobin < or = 11.9 g/dL, and total lymphocyte count < or = 1,449/muL), and inadequate numbers of occluding pairs of teeth variably defined as less than 5 "posterior pairs" of occluding teeth or less than 6 or 7 "total pairs" of occluding teeth. RESULTS: Head and neck cancer patients had significantly lower body mass index (P = .005) and total lymphocyte count (P = .019) than controls, but there were no significant correlations between the nutritional and dental variables in either group. CONCLUSIONS: Untreated head and neck cancer patients frequently have nutritional status parameters indicating heightened risk for malnutrition-related complications but inadequate masticatory function is not a causative factor.