Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery

The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt-Oram syndrome patients and should be added to the list of possible associated cardiac defects.

Dimensional Accuracy of Computer-Aided Design/Computer-Assisted Manufactured Orbital Prostheses

Purpose: The aim of this research was to assess the dimensional accuracy of orbital prostheses based on reversed images generated by computer-aided design/computer-assisted manufacturing (CAD/CAM) using computed tomography (CT) scans. Materials and Methods: CT scans of the faces of 15 adults, men and women older than 25 years of age not bearing any congenital or acquired craniofacial defects, were processed using CAD software to produce 30 reversed three-dimensional models of the orbital region. These models were then processed using the CAM system by means of selective laser sintering to generate surface prototypes of the volunteers` orbital regions. Two moulage impressions of the faces of each volunteer were taken to manufacture 15 pairs of casts. Orbital defects were created on the right or left side of each cast. The surface prototypes were adapted to the casts and then flasked to fabricate silicone prostheses. The establishment of anthropometric landmarks on the orbital region and facial midline allowed for the data collection of 31 linear measurements, used to assess the dimensional accuracy of the orbital prostheses and their location on the face. Results: The comparative analyses of the linear measurements taken from the orbital prostheses and the opposite sides that originated the surface prototypes demonstrated that the orbital prostheses presented similar vertical, transversal, and oblique dimensions, as well as similar depth. There was no transverse or oblique displacement of the prostheses. Conclusion: From a clinical perspective, the small differences observed after analyzing all 31 linear measurements did not indicate facial asymmetry. The dimensional accuracy of the orbital prostheses suggested that the CAD/CAM system assessed herein may be applicable for clinical purposes. Int J Prosthodont 2010;23:271-276.

Analysis of Apical Root Transportation Associated with Protaper Universal F3 and F4 Instruments by Using Digital Subtraction Radiography

Introduction: The aim of this study was to assess the occurrence of apical root transportation after the use of Pro Taper Universal rotary files sizes 3 (F3) and 4 (F4). Methods: Instruments were worked to the apex of the original canal, always by the same operator. Digital subtraction radiography images were produced in buccolingual and mesiodistal projections. A total of 25 radiographs were taken from root canals of human maxillary first molars with curvatures varying from 23-31 degrees. Quantitative data were analyzed by intraclass correlation coefficient and Wilcoxon nonparametric test (P = .05). Results: Buccolingual images revealed a significantly higher degree of apical transportation associated with F4 instruments when compared with F3 instruments in relation to the original canal (Wilcoxon test, P = .007). No significant difference was observed in mesiodistal images (P = .492). Conclusions: F3 instruments should be used with care in curved canals, and F4 instruments should be avoided in apical third preparation of curved canals. (J Endod 2010;36:1052-1055)

SAPHO syndrome with temporomandibular joint ankylosis: clinical, radiological, histopathological, and therapeutical correlations

The SAPHO syndrome is characterized by specific clinical manifestations of synovitis, acne pustulosis, hyperostosis, and osteitis. It is a rare disease with a combination of osseous and articular manifestations associated with skin lesions. We describe a patient with SAPHO syndrome of the mandible and involvement of the temporomandibular joint (TMJ ankylosis). The findings from orthopantomography, computed tomography (CT), and clinical and histopathological examinations are compared and analyzed to improve the final diagnosis. Our patient was submitted to a bilateral high condylectomy and coronoidectomy to correct the open mouth limitation. No previous report of SAPHO syndrome associated with secondary TMJ ankylosis was found in the literature.

Absence and hypoplasia of the mental foramen detected in CBCT images: a case report

The mental foramen (MF) is an important anatomic landmark of the mandible, through which the mental nerve and blood vessels emerge. The importance of MF in dental practice is especially related to dental implants placement and other surgical procedures in the region. It is fundamental to be careful in order to avoid nerve and vessels injury during procedures. Anatomic variations of the MF can be found, such as occurrence of multiple foramina and unusual location. In very rare occasions, the absence of MF can be detected. The observation of this variation is not always possible using only conventional radiographs. The modern imaging resource cone beam computed tomography (CBCT) allows an accurate three-dimensional assessment of MF, as well as the identification of its variations. The aim of this article is to report MF absence and hypoplasia detected in CBCT images of a 27-year-old daughter and her 63-year-old mother, both from Brazil. Despite the MF anatomic variations, they presented no sensorial disturbance in the regions supplied by the mental nerve.

Chronic maxillary sinusitis associated with dental impression material

A 62-year-old man was referred for routine treatment of hyperplasia of the mucosa in the anterior lower jaw. An oroantral fistula was detected in the right superior alveolar ridge. The patient had no complaints. Plain radiographs showed a radiopaque foreign body in the posterior region associated with opacification of the maxillary sinus. Computed tomography showed the same hyperdense foreign body located in the posterior lower part of the sinus and an abnormal soft tissue mass in the entire right maxillary sinus. When asked about sinusitis, the patient mentioned occasional episodes of pus taste and intermittent crises of headache lasting for one week. The patient has been edentulous for 20 years. Sinus debridement was performed and the oroantral fistula was closed. The clinical suspicion of the presence of zinc oxide-eugenol paste was confirmed by microscopical and chemical analysis. After 6 months of follow-up, the fistula continued to be closed and sinusitis did not recur. This clinical case of maxillary chronic sinusitis illustrates a different odontogenic origin.

Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family

Objective: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. Design: Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed. Results: TWIST1 gene analysis revealed a Pro136His mutation in all patients. Hearing evaluation showed peripherial and mixed hearing loss in two of the patients, one of them with severe unilateral microtia. Computed tomography scan showed structural middle ear anomalies, and MRI showed distortion of the skull contour as well as some of the brain structures. Conclusions: We report a previously undescribed TWIST1 gene mutation in patients with SCS. There is evidence that indicates hearing loss (conductive and mixed) can be related both with middle ear (microtia, high jugular bulb, and enlarged vestibules) as well as with brain stem anomalies. Here we discuss the relationship between the gene mutation and the clinical, imaging, speech, and hearing findings.

Surgical planning for resection of an ameloblastoma and reconstruction of the mandible using a selective laser sintering 3D biomodel

Ameloblastoma is a benign locally aggressive infiltrative odontogenic lesion. It is characterized by slow growth and painless swelling. The treatment for ameloblastoma varies from curettage to en bloc resection, and the reported recurrence rates after treatment are high; the safety margin of resection is important to avoid recurrence. Advances in technology brought about great benefits in dentistry; a new generation of computed tomography scanners and 3-dimensional images enhance the surgical planning and management of maxillofacial tumors. The development of new prototyping systems provides accurate 3D biomodels on which surgery can be simulated, especially in cases of ameloblastoma, in which the safety margin is important for treatment success. A case of mandibular follicular ameloblastoma is reported where a 3D biomodel was used before and during surgery.

Canal transportation and centring ability of RaCe rotary instruments

Evaluate, through computerized tomography, canal transportation and centring ability of RaCe rotary instruments after preparation of mesiobuccal root canals in maxillary molar teeth. Twenty-seven teeth were submitted to three cone beam tomographic analyses, one preoperatively, and two after preparation with file size 35, .02 taper and size 50, .02 taper. Canal transportation and centring ability were measured with reference to the distance between the noninstrumented portion of the root canals and the mesial and distal periphery of the root, compared with images obtained after the preparation with size 35 and 50 instruments. Canal transportation after preparation with the size 35 file was 0.030 +/- 0.253 mm and after the size 50 file was 0.057 +/- 0.317 mm. The centring ratio values after preparation with the size 35 file was 0.42 +/- 0.32 and after the size 50 file was 0.54 +/- 0.29, with no significant statistical difference between the groups. RaCe instruments allowed the preparation of curved root canals with preparation diameters larger than those normally used with minimal canal transportation and adequate centring ability.

Effect of power Doppler and digital subtraction techniques on the comparison of myocardial contrast echocardiography with SPECT

Objective-To compare the accuracy and feasibility of harmonic power Doppler and digitally subtracted colour coded grey scale imaging for the assessment of perfusion defect severity by single photon emission computed tomography (SPECT) in an unselected group of patients. Design-Cohort study. Setting-Regional cardiothoracic unit. Patients-49 patients (mean (SD) age 61 (11) years; 27 women, 22 men) with known or suspected coronary artery disease were studied with simultaneous myocardial contrast echo (MCE) and SPECT after standard dipyridamole stress. Main outcome measures-Regional myocardial perfusion by SPECT, performed with Tc-99m tetrafosmin, scored qualitatively and also quantitated as per cent maximum activity. Results-Normal perfusion was identified by SPECT in 225 of 270 segments (83%). Contrast echo images were interpretable in 92% of patients. The proportion of normal MCE by grey scale, subtracted, and power Doppler techniques were respectively 76%, 74%, and 88% (p < 0.05) at > 80% of maximum counts, compared with 65%, 69%, and 61% at < 60% of maximum counts. For each technique, specificity was lowest in the lateral wail, although power Doppler was the least affected. Grey scale and subtraction techniques were least accurate in the septal wall, but power Doppler showed particular problems in the apex. On a per patient analysis, the sensitivity was 67%, 75%, and 83% for detection of coronary artery disease using grey scale, colour coded, and power Doppler, respectively, with a significant difference between power Doppler and grey scale only (p < 0.05). Specificity was also the highest for power Doppler, at 55%, but not significantly different from subtracted colour coded images. Conclusions-Myocardial contrast echo using harmonic power Doppler has greater accuracy than with grey scale imaging and digital subtraction. However, power Doppler appears to be less sensitive for mild perfusion defects.

Measurement of qubits

We describe in detail the theory underpinning the measurement of density matrices of a pair of quantum two-level systems (qubits). Our particular emphasis is on qubits realized by the two polarization degrees of freedom of a pair of entangled photons generated in a down-conversion experiment; however, the discussion applies in general, regardless of the actual physical realization. Two techniques are discussed, namely, a tomographic reconstruction (in which the density matrix is linearly related to a set of measured quantities) and a maximum likelihood technique which requires numerical optimization (but has the advantage of producing density matrices that are always non-negative definite). In addition, a detailed error analysis is presented, allowing errors in quantities derived from the density matrix, such as the entropy or entanglement of formation, to be estimated. Examples based on down-conversion experiments are used to illustrate our results.

Primary aldosteronism: Are we diagnosing and operating on too few patients?

Many cases of potentially curable primary aldosteronism are currently likely to be diagnosed as essential hypertension unless screening tests based on suppression of renin are tarried out in all hypertensive patients. More than half of the patients with primary aldosteronism detected in this way have normal circulating potassium levels, so measurement of potassium is not enough to exclude primary aldosteronism. When primary aldosteronism is diagnosed, fewer than one-third of patients are suitable for surgery as initial treatment, but this still represents a significant percentage of hypertensive patients. After excluding glucocorticoid-suppressible primary aldosteronism, adrenal venous sampling is essential to detect unilateral production of aldosterone and diagnose angiotensin-responsive aldosterone-producing adenoma. One cannot rely on the computed tomography scan. If all hypertensive patients are screened for primary aldosteronism and the workup is continued methodically in those with a positive screening test, patients with unilateral overproduction of aldosterone who potentially can be cured surgically are not denied the possibility of cure.

Management of orbitozygomatic fractures

Background: Management of orbitozygomatic fractures forms part of the scope of practice of many oral and maxillofacial Surgeons. As aspects of management vary among surgeons who treat such injuries, this confidential study was undertaken to examine some of the protocols of Australian and New Zealand oral and maxillofacial surgeons. Results: Eighty-one per cent of the respondents treated orbitozygomatic fractures and on average. each treated approximately 24 cases per year. Also, about one in five cases required orbital floor exploration. Further, the preferred imaging baseline was computed tomography plus plain X-rays. while the preferred implant materials for orbital floor reconstruction were autologous bone and resorbable membrane. The incidence of postoperative retrobulbar haemorrhage was estimated at approximately 1:1000. Conclusion: Most oral and maxillofacial surgeons treat orbitozygomatic injuries as part of their surgical scope.

Prediction of outcomes in hypertensive patients with suspected coronary disease

Stress echocardiography has been shown to improve the diagnosis of coronary artery disease in the presence of hypertension, but its value in prognostic evaluation is unclear. We sought to determine whether stress echocardiography could be used to predict mortality in 2363 patients with hypertension, who were followed for up to 10 years (mean 4.0+/-1.8) for death and revascularization. Stress echocardiograms were normal in 1483 patients (63%), 16% had resting left ventricular (LV) dysfunction alone, and 21% had ischemia. Abnormalities were confined to one territory in 489 patients (21%) and to multiple territories in 365 patients (15%). Cardiac death was less frequent among the patients able to exercise than among those undergoing dobutamine echocardiography (4% versus 7%, P<0.001). The risk of death in patients with a negative stress echocardiogram was <1% per year. Ischemia identified by stress echocardiography was an independent predictor of mortality in those able to exercise (hazard ratio 2.21, 95% confidence intervals 1.10 to 4.43, P=0.0001) as well as those undergoing dobutamine echo (hazard ratio 2.39, 95% confidence intervals 1.53 to 3.75, P=0.0001); other predictors were age, heart failure, resting LV dysfunction, and the Duke treadmill score. In stepwise models replicating the sequence of clinical evaluation, the results of stress echocardiography added prognostic power to models based on clinical and stress-testing variables. Thus, the results of stress echocardiography are an independent predictor of cardiac death in hypertensive patients with known or suspected coronary artery disease, incremental to clinical risks and exercise results.