Endocrine abnormalities in patients with Jacobsen (11q-) syndrome

Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Short stature has been reported in this syndrome, however very few of these patients have undergone endocrine evaluation. Serum insulin-like growth factor-1 (IGF-1) levels are an indirect indicator of growth hormone activity and are a useful initial screening tool in the assessment of an individual's growth hormone axis. We studied nine children with JS, eight of whom had short stature. Four out of eight children with short stature (50%) had low IGF-1 values, with three low for age and one low for Tanner stage. Four out of six males (67%) had cryptorchidism, a potential sign of hypogonadism. We conclude that low IGF-1 is common in patients with JS and short stature, and that growth hormone status and possibly hypothalamic-pituitary function should be evaluated in this patient population.     

A hybrid approach for quantification of aortic valve stenosis using cardiac magnetic resonance imaging and echocardiography:

Summary We replaced Dopplerderived stroke volume in the continuity equation (method A) by either right heart catheterizationderived stroke volume (method B) or cardiovascular magnetic resonance–derived stroke volume (method C) to calculate aortic valve area in 20 consecutive patients with moderate or severe aortic stenosis. Comparison of both hybrid methods (methods B and C) by Bland–Altman analysis showed a mean difference near zero, a spread within two standard deviations and very similar limits of agreement. More importantly, all patients were classified into the same category of severity by both methods.     

Virulence Factors of Staphylococcus aureus Isolates in an Iranian Referral Children's Hospital

Objectives

The clinical importance of Staphylococcus aureus (S. aureus) is attributed to notable virulence factors, surface proteins, toxins, and enzymes as well as the rapid development of drug resistance. The aim of this study was to compare the occurrence of virulence factors produced by S. aureus strains isolated from children in an Iranian referral children''s hospital.

Methods

The presence of genes encoding for the enterotoxins A (sea), B (seb), C (sec), D (sed), TSST-1 (tsst), exfoliative toxin A (eta), and exfoliative toxin B (etb) were detected by Multiplex polymerase chain reaction (PCR) using specific primers. In addition, the standardized Kirby-Bauer disc-diffusion method was performed on Mueller-Hinton agar.

Results

In total, 133 S. aureus isolates were obtained from different patients. Of these S. aureus isolates, 64 (48%) were methicillin-resistant S. aureus (MRSA), and all of these tested positive for the mecA gene. Regarding the classical enterotoxin genes, sea gene (40.6%) was the most prevalent followed by seb (19.6%), tsst (12.8%), eta (11.3%), etb (9%), sed (4.5%), and sec (3%). Among methicillin-susceptible S. aureus (MSSA) isolates, seb and tsst were the more prevalent toxins in comparison with MRSA isolates (p < 0.05), while the frequency of sea, sed, eta, and etb genes were higher among MRSA isolates (p > 0.05).

Conclusion

In our study enterotoxin A was produced by 40.6% of the isolates (48% from MRSA and 33% from MSSA isolates) which was higher than in previous reports. According to our results, strict hygiene and preventative measures during food processing are highly recommended.     

Pulmonary embolism: CT signs and cardiac biomarkers for predicting right ventricular dysfunction

The aim of this study was to prospectively evaluate the accuracy of quantitative cardiac computed tomography (CT) parameters and two cardiac biomarkers (N-terminal-pro-brain natriuretic peptide (NT-pro-BNP) and troponin I), alone and in combination, for predicting right ventricular dysfunction (RVD) in patients with acute pulmonary embolism. 557 consecutive patients with suspected pulmonary embolism underwent pulmonary CT angiography. Patients with pulmonary embolism also underwent echocardiography and NT-pro-BNP/troponin I serum level measurements. Three different CT measurements were obtained (right ventricular (RV)/left ventricular (LV)(axial), RV/LV(4-CH) and RV/LV(volume)). CT measurements and NT-pro-BNP/troponin I serum levels were correlated with RVD at echocardiography. 77 patients with RVD showed significantly higher RV/LV ratios and NT-pro-BNP/troponin I levels compared to those without RVD (RV/LV(axial) 1.68 ± 0.84 versus 1.00 ± 0.21; RV/LV(4-CH) 1.52 ± 0.45 versus 1.01 ± 0.21; RV/LV(volume) 1.97 ± 0.53 versus 1.07 ± 0.52; serum NT-pro-BNP 6,372 ± 2,319 versus 1,032 ± 1,559 ng · L(-1); troponin I 0.18 ± 0.41 versus 0.06 ± 0.18 g · L(-1)). The area under the curve for the detection of RVD of RV/LV(axial), RV/LV(4-CH), RV/LV(volume), NT-pro-BNP and troponin I were 0.84, 0.87, 0.93, 0.83 and 0.70 respectively. The combination of biomarkers and RV/LV(volume) increased the AUC to 0.95 (RV/LV(volume) with NT-pro-BNP) and 0.93 (RV/LV(volume) with troponin I). RV/LV(volume) is the most accurate CT parameter for identifying patients with RVD. A combination of RV/LV(volume) with NT-pro-BNP or troponin I measurements improves the diagnostic accuracy of either test alone.     

The relationship between 3D dentofacial photogrammetry measurements and traditional cephalometric measurements

Objectives:To determine the relationship between traditional cephalometric measurements and corresponding nonradiographic three-dimensional (3D) photogrammetry measurements.Materials and Methods:This was a cross-sectional study of 20 orthodontic patients (10 male and 10 female) who received lateral cephalometric radiographs and 3D dentofacial photogrammetric records with each subject serving as his or her own control for a total sample size of 40 images (20 per method). A 3D analysis that resembled a traditional cephalometric analysis was established using the eyes and natural head orientation as substitutes for the cranial base. Pearson correlation coefficients and multivariable linear regression plots were calculated to evaluate the relationship between the photogrammetry measurements and the cephalometric measurements.Results:The ANB angle, mandibular plane angle, lower anterior face height, upper incisor angle to SN, upper incisor angle to NA, and all measurements of lower incisor position and inclination had strong positive Pearson correlation coefficients with the corresponding 3D photogrammetry measurements (P < .004). Statistically significant regression plots demonstrated that cephalometric relationships between the jaws and incisor orientation can be predicted from corresponding 3D photogrammetry measurements.Conclusions:3D photogrammetry measurements relating the jaws to each other and incisor orientation has a strong positive correlation with corresponding traditional cephalometric measurements and can serve as cephalometric predictors. Capturing the eyes using 3D photogrammetry can obviate the need to expose the cranial base and allow limiting the radiographic field to the area of interest.     

Correlation of CT angiographic pulmonary artery obstruction scores with right ventricular dysfunction and clinical outcome in patients with acute pulmonary embolism

Objective

To correlate CTA pulmonary artery obstruction scores (OS) with right ventricular dysfunction (RVD) and clinical outcome in patients with acute pulmonary embolism (PE).

Materials and methods

In a prospective study of 50 patients (66 ± 12.9 years) with PE pulmonary artery OS (Qanadli, Mastora, and Mastora central) were assessed by two radiologists. To assess RVD all patients underwent echocardiography within 24 h. Furthermore, RVD on CT was assessed by calculating the right ventricular/left ventricular (RV/LV) diameter ratios on transverse (RV/LVtrans) and four-chamber views (RV/LV4ch) as well as the RV/LV volume ratio (RV/LVvol). OS were correlated with RVD and the occurrence of adverse clinical outcomes (defined as death, need for intensive care treatment, or cardiac insufficiency ≥NYHA III).

Results

Mean Mastora, Qanadli, and Mastora central OS were 26.4 ± 17.7, 12.6 ± 9.9 and 7.5 ± 9, respectively. Echocardiography demonstrated moderate and severe RVD in 10 and 5 patients, respectively. Patients with moderate and severe RVD showed significantly higher Mastora central scores than patients without RVD (14 ± 10.8 vs. 5.9 ± 7.8 [p = 0.05]; 17.6 ± 13.2 vs. 5.9 ± 7.8 [p = 0.038]). A relevant correlation (i.e. r ≥ 0.6) between OS and CT parameters for RVD were only found for the Mastora score and the Mastora central score (RV/LV4ch: r = 0.61 and 0.68, RV/LVvol: r = 0.61 and 0.6). 18 patients experienced an adverse clinical outcome. None of the OS differed significantly between patients with and without adverse clinical outcome.

Conclusion

Pulmonary artery obstruction scores can differentiate between patients with and without RVD. However, in this study, obstruction scores were not correlated to adverse clinical outcome.