Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family

Members of a Dutch DFNA13/COL11A2 family were evaluated with pure tone audiometry, stapedial reflexes, otoacoustic emissions, loudness scaling, difference limen for frequency, gap detection, and speech perception in quiet and noise. The tone audiometry showed a predominant loss for the low and middle frequencies, with only a few otoacoustic emissions at thresholds better than 25 dB hearing level. The stapedial reflexes appeared elevated, and loudness growth curves were shifted parallel to those for normal-hearing subjects, indicating a shift of the dynamic range toward higher presentation levels. The data for the difference limen for frequency, gap detection, and speech perception in noise fell within the (near-)normal range. Despite elevated thresholds, all suprathreshold functions showed fairly normal properties, suggesting an attenuation of signal energy in the cochlea with limited degradation of the cochlea's signal analyzing capabilities. The effect of DFNA13/COL11A2 may thus be characterized as a cochlear conductive loss.     

Comparative evaluation of super high-resolution CT scan and virtual bronchoscopy for the detection of tracheobronchial malignancies

OBJECTIVES: Novel imaging modalities are currently available for the noninvasive evaluation of the tracheobronchial tree. This study was undertaken to compare the diagnostic potentials of conventional CT scanning, super high-resolution CT (SHR-CT) scanning, and virtual bronchoscopy (VB) directly with fiberoptic bronchoscopy (FB) for the detection of tracheobronchial neoplasms. DESIGN: Prospective observer study, in which 44 consecutive patients with thoracic malignancies were evaluated using several diagnostic imaging modalities. Images of the thorax were interpreted by individuals blind to the results of FB for the detection of endoluminal, obstructive, or mucosal lesions. MEASUREMENTS AND RESULTS: Image acquisition and simulation of the tracheobronchial anatomy were created successfully in all patients. Thirty-two patients who underwent both SHR-CT scanning and VB had correlative FBs within 1 month. In all nine patients who had a normal anatomy, SHR-CT scanning and VB accurately correlated with the FB findings. However, CT scanning demonstrated two false-positive obstructive lesions in one patient. Twenty-three patients had a total of 35 abnormal FB findings. The sensitivities of SHR-CT scanning and VB for the detection of endoluminal, obstructive, and mucosal lesions were 90%, 100%, and 16%, respectively. The overall sensitivities and specificities of SHR-CT scanning and VB were 83% and 100%, respectively. In contrast, CT scanning had sensitivities of 50%, 72%, and 0% for the detection of endoluminal, obstructive, and mucosal lesions with an overall sensitivity and specificity of 59%, and 85%, respectively. There was no case in which conventional CT scanning was better at detecting lesions than either SHR-CT scanning or VB. CONCLUSIONS: SHR-CT scanning and VB are accurate, noninvasive methods for identifying obstructions and endoluminal lesions within the respiratory tract. Thus, these novel imaging techniques are valuable as complementary modalities to FB, providing information that is useful for the detection and management of airway malignancies.     

Electrical impedance tomography in the assessment of extravascular lung water in noncardiogenic acute respiratory failure

STUDY OBJECTIVES: To establish the value of electrical impedance tomography (EIT) in assessing pulmonary edema in noncardiogenic acute respiratory failure (ARF), as compared to the thermal dye double indicator dilution technique (TDD). DESIGN: Prospective clinical study. SETTING: ICU of a general hospital. PATIENTS: Fourteen ARF patients. INTERVENTIONS: In order to use the TDD to determine the amount of extravascular lung water (EVLW), a fiberoptic catheter was placed in the femoral artery. Measurements and main results: Fourteen consecutive ARF patients receiving mechanical ventilation were measured by EIT and TDD. EIT visualizes the impedance changes caused by the ventilation in two-dimensional image planes. An impedance ratio (IR) of the ventilation-induced impedance changes of a posterior and an anterior part of the lungs was used to indicate the amount of EVLW. For the 29 measurements in 14 patients, a significant correlation between EIT and TDD (r = 0. 85; p < 0.001) was found. The EIT reproducibility was good. The diagnostic value of the method was tested by receiver operator characteristic analysis, with 10 mL/kg of EVLW considered as the upper limit of normal. At a cutoff level of the IR of 0.64, the IR had a sensitivity of 93%, a specificity of 87%, and a positive predictive value of 87% for a supranormal amount of EVLW. Follow-up measurements were performed in 11 patients. A significant correlation was found between the changes in EVLW measured with EIT and TDD (r = 0.85; p < 0.005). CONCLUSION: We conclude that EIT is a noninvasive technique for reasonably estimating the amount of EVLW in noncardiogenic ARF.     

Dietary fat, body weight, and cancer: contributions of studies in rodents to understanding these cancer risk factors in humans

Understanding diet and energy balance as risk factors for breast, colon, and other cancers requires information on the contribution of each factor and of interactions among factors to cancer risk. Rodent models for breast cancer provide extensive data on effects of dietary fat and calories, energy balance, body weight gain, and physical activity on tumor development. Analyses of the combined data from many studies have shown clearly that quality and quantity of dietary fat and energy balance contribute independently to increased mammary gland tumorigenesis. These findings were seen in female rats fed diets high in fat (35-40% of calories) compared to rats fed control diets, with approximately 10% of calories as fat (Fay and Freedman, 1997, Breast Cancer Res. Treat. 46, 215-223). The methods used permit comparison of experimental and epidemiological data, and they may be useful in extrapolating between species and developing public health recommendations. In addition to the contributions of lifetime-diet composition, intake, energy balance, and physical activity to cancer risk, there are questions about the timing and duration of alterations in these factors and about the "dose-response" characteristics of cancer risk to the factors. Endocrine mechanisms may be significant in mammary gland tumor risk, but experimental and epidemiological data indicate that cancers at other sites, such as colon and liver, also are influenced by the factors listed. Other diet and lifestyle factors that influence energy, or specifically fat, metabolism may also affect risk for cancers that are promoted by increased intake of fat and calories. Studies of separate and interactive effects of dietary fat, black tea, weight gain, and mammary gland tumorigenesis (Rogers, et al, 1998, Carcinogenesis 19, 1269-1273) have been analyzed. Using adjustment of carcinogenesis endpoints for body weight, tumor burden, and latency, they were found to be related to weight gain within treatment groups in 2 of 3 experiments.      

Successful pregnancy in transfusion-dependent thalassaemia

Successful pregnancy in a transfusion-dependent thalassaemic patient receiving subcutaneous desferrixaomine is reported. This is the first such case to be described.     

Hypoaldosteronism in three sibs due to 18-dehydrogenase deficiency

Three sibs all presented in the early neonatal period with a salt-losing syndrome. The salt-losing form of congenital adrenal hyperplasia was diagnosed and appropriate treatment with glucocorticosteroids, mineralocorticosteroids, and additional dietary salt started. Although early life was maintained with difficulty, with age all 3 children required decreasing amounts of replacement steroids to maintain normal plasma electrolyte balance. They were reinvestigated at the ages of 15 years and 8 years (twins), when cortisol synthesis and metabolism proved normal, but aldosterone synthesis was blocked by deficiency of 18-dehydrogenase. Rational treatment of these cases of a salt-losing syndrome in which aldosterone synthesis alone is blocked due to lack of the enzyme 18-dehydrogenase requires the administration of a mineralocorticosteroid drug only. Since deoxycorticosterone (acetate or pivalate) requires intramuscular administration, as life-long therapy oral fludrocortisone is preferable. Although fludrocortisone has glucocorticoid activity, the "hydrocortisone equivalent" effect of the small dosage used was unlikely to inhibit either pituitary corticotrophin or growth hormone production.     

Biomarkers of periodontal inflammation in the Australian adult population

Background:  Several inflammatory biomarkers are implicated in the pathogenesis of periodontitis including interleukin-1β (IL-1β) and C-reactive protein (CRP). This study investigated the presence of these factors in gingival crevicular fluid (GCF) and their relationship to clinical and social determinants of periodontitis in the Australian population.
Methods:  Equal numbers of periodontitis cases and non-cases were sampled during oral epidemiologic examination in the National Survey of Adult Oral Health. GCF was sampled from four sites where probing pocket depth (PPD) and recession were recorded. From these, IL-1β and CRP were quantified by ELISA and the log amount of GCF IL-1β (pg) per person and the proportion of adults with detectable CRP was computed.
Results:  Periodontitis cases (n = 511) had significantly higher levels of IL-1β and CRP than non-cases (n = 562). PPD, clinical attachment loss, plaque and gingivitis indices were positively associated with elevated levels of both biomarkers. Levels of both were positively associated with age, low socio-economic position and non-Australian birth.
Conclusions:  The presence of IL-1β and CRP in GCF are associated with periodontal disease parameters within the Australian population. The levels of both biomarkers are influenced by age, education and eligibility for public dental care.