Atypical presentation of Lemierre's syndrome caused by penicillin-susceptible Staphylococcus aureus in a patient with chronic stomatitis and COVID-19.

A healthy man in his late 20s was admitted to the emergency department due to a flare-up in his severe chronic stomatitis, along with flu-like symptoms. CXR showed multiple bilateral consolidations and subsequent CT revealed thrombosis of the left facial and internal jugular vein, together with septic embolism in both lungs. Blood cultures showed penicillin-susceptible Staphylococcus aureus The patient was diagnosed with Lemierre's syndrome, despite atypical bacteria and clinical presentation. During hospitalisation, he developed pulmonary empyema as a complication and was admitted for 4 weeks. During hospitalisation and after discharge, the patient was examined for multiple rheumatic, immunological and dermatological diseases, but no underlying cause for Lemierre's syndrome has been found. We present this case due to the rarity of its nature, with atypical clinical presentation and pathogen for Lemierre's syndrome, but with classic radiological findings.

Patient positioning during the radiographic procedure affects the radiological signs of acetabular retroversion - A systematic review.

Young adults presenting with non-traumatic hip pain may suffer from acetabular retroversion (AR). The previous studies have suggested that patient positioning during the radiographic procedure, that is, pelvic tilt and/or rotation may alter the appearance of the acetabulum. The purpose of this systematic review was to explore and collate existing literature on the correlation between pelvic positioning in weight-bearing anterior-posterior radiographs and the radiographic signs of AR, namely, the ischial spine sign (ISS) the cross-over sign (COS) and posterior wall sign (PWS). The preferred reporting items for systematic reviews and meta-analysis guidelines were followed. MEDLINE, EMBASE, PubMed, The Cochrane Library, and CINAHL were searched. The search string included the following keywords: Pelvic, tilt, rotation, positioning, inclination, incidence, AR, ISS, COS, PWS, and acetabular version. Two authors independently screened the studies identified in the search, extracted data, and critically assessed included studies for quality using the Quality Assessment of Diagnostic Accuracy Studies 2 tool. In total, 2289 publications were screened. Fifteen articles were found eligible for full-text screening, and four articles met the inclusion criteria. Although the studies varied methodologically, all reported that pelvic positioning impacted radiographic signs of AR investigated. One study suggested that more than 9° of pelvic inclination would result in positive COS. No other benchmark values on the degree of pelvic tilt and rotation that would compromise the diagnosis of AR, that is, the detection of ISS, COS, and PWS were reported. At present, literature reporting on the correlation between patient positioning and AR is sparse. Four studies met the inclusion criteria, and they all reported a link between pelvic positioning and the radiographic appearance of AR.

Ultrasound assessment of testicular volume - An interobserver variability study.

BACKGROUND: Ultrasonography measurement of the testicles and subsequent calculation of the testicular volume is recommended as a part of a standard scrotal ultrasound examination. The interobserver variability of testicular volume measurement has implications for surgical recommendations. Therefore, this study aimed to investigate the interobserver variability in the measurement of testicular volume. METHODS: Interobserver variability was established by comparing testicular measurements performed by two observers on the same patient during the same clinical appointment. The observers were blinded to each other's measurements. Testicular volume was calculated using the Lambert formula: length x width x height x 0.71. A total of three observers, A, B and C, participated in the study. The observers had between 4 to 20 years' experience with scrotal ultrasound examinations. RESULTS: In total, 24 patients' were included (48 testicles). The patient´s mean age was 43 years (range 19-75 years). The overall mean right testicular volume was 19.8 ml (range 7.3-31.6 ml), and the left was 20.1 ml (range 7.1-36.1 ml). The interclass correlation coefficient (ICC) between observer A and B was excellent (ICC= 0.98, CI:0.92-0.99), between observer A and C, was excellent (ICC=0.91, CI: 0.77-0.97) and between B and C good (ICC=0.82, CI:0.51-0.93). CONCLUSION: Variability in estimating testicular volume is low, with interobserver agreement ranging from good to excellent. Ultrasound provides a highly reproducible tool to determine testicular volume.

Accuracy of radiographic measurements of fracture-induced deformity in the distal radius.

Background: Management of the distal radius fracture (DRF) is to some extent based on radiographic characterization of fracture displacement. It remains unclear, however, if the measurements used to quantify displacement are accurate. Purpose: To quantify accuracy of two radiographic measurements: dorsal/volar tilt and fracture compression, measured indirectly as ulnar variance (UV), using radiostereometric analyses (RSA) as reference standard. Material and Methods: Twenty-one fresh frozen non-fractured human cadaveric forearms (right = 11, left = 10) were thawed and eligible for inclusion. The forearms were mounted on a custom made platform that allowed for controlled forearm rotation, and they underwent two rounds of imaging (both rounds consisted of RSA and radiographs). In round one, the non-fractured forearms were radiographed. In round two, artificial DRF´s with compression and dorsal angulation were created and imaging procedures repeated. Change in tilt and UV between the non-fractured and later fractured forearms was defined as fracture-induced deformity. Deformity was measured radiographically and additionally calculated using RSA. Bland Altman analyses were used to estimate agreement between radiographically measured, and RSA calculated, fracture-induced deformity. Results: Our results indicated that radiographs underestimate the amount of fracture-induced deformity. Mean measured differences (bias) in dorsal tilt deformity between radiographs and RSA were -2.5° for both observers. The corresponding values for UV were -1.4 mm and -1.5 mm. Conclusion: Quantifying fracture-induced deformity on radiographs underestimated the actual deformity when compared to RSA calculated deformity. These findings suggest that clinicians, at least in part, base fracture management and potentially corrective surgery on inaccurate measurements.

Using virtual reality simulation for training practical skills in musculoskeletal wrist X-ray - A pilot study.

Objectives: Using virtual reality (VR), students of radiography can practice acquisition and positioning of musculoskeletal radiographs and get immediate feedback on their performance within the simulator. The purpose of this study was to assess usability of a newly developed VR simulator and to explore self-perceived clinical readiness (SPCR) of radiography students before and after training acquisition of wrist radiographs in the VR simulator. Material and Methods: A prospective methodology was applied where the students (n = 10) estimated their own SPCR in regard to acquisition of wrist radiographs pre- and post-VR training. A questionnaire on usability, realism, and educational value of the simulator was answered post-VR training. Usability and SPCR scores were calculated. The student's paired t-test was applied to explore the impact of VR training on SPCR. Results: The students (90%) reported that the simulator was realistic and they thought that it could contribute to learning. The pre- and post-SPCR scores were 75 (95% confidence interval [CI]: 54-96) and 77 (95% CI: 59-95), respectively. There was no significant difference (P = 0.4574) between the pre- and post-SPCR scores. Conclusion: Results indicated that the concept of training acquisition and positioning of wrist radiographs in a VR simulator is feasible with positive feedback from the students. The SPCR scores improved slightly, although not statistically significant, after completion of the training session.

Ultra-low-dose emergency chest computed tomography protocols in three vendors: A technical note.

Background: In suspected community-acquired pneumonia (CAP), chest CT is superior to the routinely obtained radiographs (CXR), but administers higher radiation doses. However, ultra-low-dose CT (ULDCT) has shown promising results. Purpose: To compare radiation dose and image quality using standard and ULDCT protocols designed for a multicenter study encompassing three CT scanner models from GE, Canon, and Siemens. Material and methods: Patients with suspected CAP were referred for non-contrast standard dose chest CT (NCCT) and ULDCT. Effective radiation dose and Contrast-to-Noise Ratio (CNR) was calculated. Results: Mean effective doses were GE (n = 10) 6.93 mSv in NCCT and 0.27 mSv in ULDCT; Canon (n = 9) 3.48 in mSv NCCT and 1.11 mSv in ULDCT; Siemens (n = 10) 2.85 mSv in NCCT and 0.45 mSv in ULDCT. CNR was reduced by 29-39% in ULDCT. Conclusion: The proposed CT protocols yielded dose reductions of 96%, 68%, and 84% using a GE, Canon, and Siemens scanner, respectively.

Observer agreement of volar tilt of the wrist is influenced by forearm rotation.

Background: Dorsal/volar tilt is an important radiographic measurement commonly included in the treatment decision of distal radius fractures (DRFs). However, studies have shown that forearm positioning relative to rotation (i.e., supination and pronation) can affect the measured tilt value but with substantial interobserver variance. Purpose: To examine whether interobserver agreement on radiographic tilt measurement is influenced by forearm rotation. Material and Methods: We radiographed 21 cadaveric forearms at 5° rotational intervals between 15° supination and 15° pronation on lateral radiographs. A radiologist and a hand surgeon measured tilt in a blinded and randomized fashion. Bland-Altman analyses with bias and limits of agreement (LoA) were used to estimate interobserver agreement for forearms in all degrees of rotation, non-rotated forearms, supinated forearms, and pronated forearms. Results: Interobserver agreement varied with forearm rotation. Bias (95% confidence interval [CI]; LoA) was -1.54° (95% CI: -2.53, -0.55; LoA: -13.46, 10.38) when measuring tilt on radiographs with all degrees of forearm rotation, and -1.48° (95% CI: -4.13, 1.17; LoA: -12.88, 9.92) when measuring tilt on true lateral 0° radiographs. When measuring on supinated and pronated radiographs, bias was -0.03° (95% CI: -1.35, 1.29; LoA: -8.34, 8.28) and -3.23° (95% CI: -5.41, -1.06; LoA: -16.90, 10.44), respectively. Conclusion: Interobserver agreement on tilt was similar when comparing measurements made on true lateral radiographs to those made on the group with all degrees of forearm rotation. However, interobserver agreement improved with supination and worsened with pronation.

Clinical application of EOS imaging system: a scoping review protocol.

OBJECTIVE: The objective of this scoping review is to examine and map the existing literature on the clinical application of the EOS imaging system and to identify related evidence gaps. INTRODUCTION: The EOS imaging system was originally developed to conduct imaging for medical conditions, such as scoliosis and anisomelia. However, recent research suggests that the modality has other clinical uses that may benefit patients via reduced radiation dose and, thus, improve patient safety. INCLUSION CRITERIA: This scoping review will consider all quantitative study designs, including systematic reviews and meta-analyses. Imaging phantom studies and conference abstracts will be excluded. METHODS: Databases that will be searched include Embase, MEDLINE, CINAHL Complete, Scopus, Cochrane Library, Academic Search Premier, and OpenGrey. Relevant secondary material will be identified using citation searching (backwards and forwards) of included studies through Google Scholar. In addition, we will search by author name where more than 3 included studies from the same first author are identified. Articles published from 2003 in English, Danish, Norwegian, Swedish, French, and German will be included. Two independent reviewers will perform title/abstract screening, followed by full-text screening. Data extraction will include study type and design, age of participants, anatomical/physiological region, pathology, clinical endpoint, outcome measures, sample size, and clinical application. Data will be presented in tabular format and as a narrative summary. DETAILS OF THE REVIEW AVAILABLE AT: Open Science Framework https://osf.io/yc85j/.

The lateral wrist radiograph - To retake or not to retake.

INTRODUCTION: Patient positioning may impact diagnostic quality when obtaining radiographs of the musculoskeletal (MSK) system. Hence, knowledge on patient positioning, as seen in the radiograph, followed by informed adjusted retake if appropriate, is key when undertaking MSK radiographs. Forearm positioning is particularly important in lateral wrist radiographs where rotation impacts anatomic measurements. The purpose was to evaluate the accuracy of MSK and non-MSK radiographers' immediate assessments of wrist positioning including need for retake. METHODS: A questionnaire including images of 18 lateral wrist radiographs and questions regarding positioning, i.e. forearm rotation and flexion of the wrist, were developed and distributed to radiographers worldwide via the European Federation of Radiographer Societies (EFRS) and the Research Hub at the European Congress of Radiology (ECR) 2021. Demographic data such as area of expertise, years of experience etc. were collected. RESULTS: In total, 156 replies were included in the analyses. The inter-observer agreement of radiographers' assessment of the need for a retake was 47% (kappa = .25) and the intra-observer agreement was 81% (kappa = .62). Radiographers working with MSK radiography had more correct positioning assessments than radiographers who did not routinely obtain radiographs of the MSK system (p = 0.0003). CONCLUSION: Results indicated that MSK radiographers are more consistent in assessment of the need for a retake in lateral wrist radiographs and more able to correctly judge positioning compared to non-MSK radiographers. IMPLICATIONS FOR PRACTICE: Constant focus on image quality may lead to increased awareness and adherence to image criteria. Improved image quality will in turn improve the diagnostic value for the benefit of the patients potentially leading to better outcomes.

3D wrist imaging - Is it time for superman to retire?

Objectives: Computed tomography (CT) of the wrist may be challenged, due to patients' inability to extend the arm for a "Superman pose" resulting in increased radiation dose due to scatter. Alternative positions and less dose administering modalities such as 3D Cone-beam CT (CBCT) and single-shot CT could be considered. This phantom study aimed to estimate scatter radiation dose in different phantom positions using helical and single-shot CT and 3D CBCT. Material and Methods: Wireless electronic dosimeters attached to the head and chest of an anthropomorphic phantom in various clinically relevant positions were used to measure scatter radiation. In helical CT, the following positions were used: Superman pose, semi-superman pose, wrist on the abdomen, and single-shot CT with the patient sitting in front of and behind the gantry. In 3D CBCT, the phantom was in a supine position with the arm extended laterally. Results: Helical CT using the Superman pose resulted in a total scattered radiation dose of 64.8 µGy. The highest total dose (269.7 µGy) was obtained with the wrist positioned on the abdomen while the lowest total dose was achieved in single-shot CT with the phantom sitting behind the gantry with the forearm placed inside the gantry (3.2 µGy). The total dose in 3D CBCT was 171.1 µGy. Conclusion: The commonly used semi-superman and wrist-on-abdomen positions in CT administer the highest scattered doses and should be avoided when either single-shot CT or 3D CBCT is available. Radiographers should carefully consider alternatives when a patient referred for wrist CT cannot comply with the Superman position.

A Deep Learning Algorithm for Radiographic Measurements of the Hip in Adults-A Reliability and Agreement Study.

Hip dysplasia (HD) is a frequent cause of hip pain in skeletally mature patients and may lead to osteoarthritis (OA). An accurate and early diagnosis may postpone, reduce or even prevent the onset of OA and ultimately hip arthroplasty at a young age. The overall aim of this study was to assess the reliability of an algorithm, designed to read pelvic anterior-posterior (AP) radiographs and to estimate the agreement between the algorithm and human readers for measuring (i) lateral center edge angle of Wiberg (LCEA) and (ii) Acetabular index angle (AIA). The algorithm was based on deep-learning models developed using a modified U-net architecture and ResNet 34. The newly developed algorithm was found to be highly reliable when identifying the anatomical landmarks used for measuring LCEA and AIA in pelvic radiographs, thus offering highly consistent measurement outputs. The study showed that manual identification of the same landmarks made by five specialist readers were subject to variance and the level of agreement between the algorithm and human readers was consequently poor with mean measured differences from 0.37 to 9.56° for right LCEA measurements. The algorithm displayed the highest agreement with the senior orthopedic surgeon. With further development, the algorithm may be a good alternative to humans when screening for HD.

[Genetic testing in autism spectrum disorder].

Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. Advances in genomic technology have identified several monogenic causes, and genetic testing may be offered to persons with ASD where a monogenic etiology is suspected. Herein, we provide an overview of the current knowledge and present the first national recommendation regarding genetic testing in ASD.

Correction: Abdi et al. Visual Evaluation of Image Quality of a Low Dose 2D/3D Slot Scanner Imaging System Compared to Two Conventional Digital Radiography X-ray Imaging Systems. Diagnostics 2021, 11, 1932.

In the original publication [...].

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

We present a three-generation family with an AXIN2 variant and a family history of colorectal cancer (CRC), colon polyps and tooth agenesis. A likely pathogenic variant was detected in the AXIN2 gene (c.1994dup; p.(Asn666Glnfs*41)). This variant has previously been associated with tooth agenesis and polyposis, only. In this case report we describe eight carriers with tooth agenesis and variable clinical findings, including polyps and CRC. Our case provides additional knowledge to the sparse data on genotype-phenotype association related to AXIN2 associated cancer syndrome. Further, our case highlights the importance of analysing an extended CRC and oligodontia/ectodermal dysplasia gene panel including AXIN2 but also raises awareness and discussion about appropriate surveillance program.

MR arthrography of the shoulder; correlation with arthroscopy.

BACKGROUND: Shoulder dislocation is a common injury, particularly in the younger population. Common long-term sequelae include pain, recurrence, and shoulder arthritis. Immediate and correct diagnosis following shoulder dislocation is key to achieving optimum outcomes. Although magnetic resonance arthrography (MRA) is frequently used for diagnosing shoulder instabilities, arthroscopy is still considered the gold standard. PURPOSE: This study aims to compare the diagnostic value of arthroscopy and MRA of the shoulder joint. MATERIALS AND METHODS: This retrospective study estimates the sensitivity and specificity of MRA of the shoulder. Data from patients who had undergone shoulder MRA and subsequent arthroscopy during a 5-year period were retrospectively collected. Sensitivity and specificity were calculated using the arthroscopic findings as the gold standard. Moreover, diagnostic accuracy was estimated using McNemar's test. RESULTS: In total, 205 cases were included from which 372 pathological findings were uncovered during the arthroscopic procedures as opposed to 360 findings diagnosed from the MRA images. The glenoid labral tear was the most common finding reported by MRA and arthroscopy. For the detection of glenoid labral tears on MRA, the sensitivity was 0.955 but with eight missed lesions; the specificity was 0.679. Capsular tears, rotator cuff tears, and cartilage lesions proved the most difficult to correctly diagnose using MRA with sensitivities of 0.2, 0.346, and 0.366, respectively. CONCLUSIONS: With a sensitivity of 95%, MRA is a valuable diagnostic tool for assessing shoulder instabilities, particularly when diagnosing labral lesions, including bony and soft-tissue Bankart lesions. Sensitivities and specificities for other glenohumeral lesions are less convincing, however.

Visual Evaluation of Image Quality of a Low Dose 2D/3D Slot Scanner Imaging System Compared to Two Conventional Digital Radiography X-ray Imaging Systems.

The purpose of this study was to assess the image quality of the low dose 2D/3D slot scanner (LDSS) imaging system compared to conventional digital radiography (DR) imaging systems. Visual image quality was assessed using the visual grading analysis (VGA) method. This method is a subjective approach that uses a human observer to evaluate and optimise radiographic images for different imaging technologies. METHODS AND MATERIALS: ten posterior-anterior (PA) and ten lateral (LAT) images of a chest anthropomorphic phantoms and a knee phantom were acquired by an LDSS imaging system and two conventional DR imaging systems. The images were shown in random order to three (chest) radiologists and three experienced (knee) radiographers, who scored the images against a number of criteria. Inter- and intraobserver agreement was assessed using Fleiss' kappa and weighted kappa. RESULTS: the statistical comparison of the agreement between the observers showed good interobserver agreement, with Fleiss' kappa coefficients of 0.27-0.63 and 0.23-0.45 for the chest and knee protocols, respectively. Comparison of intraobserver agreement also showed good agreement with weighted kappa coefficients of 0.27-0.63 and 0.23-0.45 for the chest and knee protocols, respectively. The LDSS imaging system achieved significantly higher VGA image quality compared to the DR imaging systems in the AP and LAT chest protocols (p < 0.001). However, the LDSS imaging system achieved lower image quality than one DR system (p ≤ 0.016) and equivalent image quality to the other DR systems (p ≤ 0.27) in the knee protocol. The LDSS imaging system achieved effective dose savings of 33-52% for the chest protocol and 30-35% for the knee protocol compared with DR systems. CONCLUSIONS: this work has shown that the LDSS imaging system has the potential to acquire chest and knee images at diagnostic quality and at a lower effective dose than DR systems.

The effect of forearm rotation on radiographic measurements of the wrist: an experimental study using radiostereometric analyses on cadavers.

BACKGROUND: Although dorsal/palmar tilt, radial inclination (RI), and ulnar variance (UV) are measurements commonly performed in wrist radiographs, the impact of forearm rotation on those measurements during the radiographic procedure is uncertain. Our aim was to determine the impact of supination and pronation on the reliability of measurements of tilt, RI, and UV. METHODS: Tantalum markers were inserted into the distal radius of 21 unfractured cadaver forearms. The forearms were radiographed in different degrees of supination and pronation. The exact degree of rotation was calculated with radiostereometric analyses. Tilt, RI, and UV were measured by two independent readers in a random and anonymised fashion. Association between forearm rotation and radiographic measurements was examined using linear regression. RESULTS: Forearm rotation significantly impacted the radiographically measured tilt. One degree of supination and pronation respectively increased and decreased palmar tilt with 0.68° and 0.44°, observers 1 and 2, respectively. As opposed to observer 1, observer 2 found that RI was significantly impacted by rotation with a slope of 0.08. Ulnar variance was not significantly impacted by rotation with linear regression slopes of 0.01° (95% confidence interval [CI] - 0.02-0.05, p = 0.490) and 0.02° (95% CI - 0.02-0.07; p = 0.288), observer 1 and observer 2, respectively. CONCLUSION: In unfractured forearms, the radiographically measured tilt was significantly affected by rotation. Palmar tilt increased with supination and decreased with pronation. Rotation significantly affected radial inclination, although of a magnitude that is probably not clinically relevant. No significant impact on UV was found.

Dorsal Tilt of the Distal Radius Fracture Changes With Forearm Rotation When Measured on Radiographs.

Purpose: This study examined the impact of pronation and supination on the reliability of the radiographically measured values of dorsal tilt, radial inclination (RI), and ulnar variance (UV) in cadaveric forearms with artificially created distal radius fractures. Methods: We prepared 21 human cadaveric forearms (11 right and 10 left) for radiostereometric analysis (RSA) by insertion of tantalum markers. Distal radius fractures were created midway between the marker segments. Radiographs and RSA images were taken at different degrees of supination and pronation. The precise degree of forearm rotation was calculated using RSA software. Two observers (H.B.T. and T.T.) independently measured tilt, RI, and UV on all radiographs in a blinded and randomized fashion. Univariate linear regression analyses were used to determine the relationship between forearm rotation and the measured radiographic values. Results: The radiographically measured value of tilt was significantly impacted by forearm rotation. Supinating or pronating the forearm by 10° decreased and increased, respectively, the radiographic value of dorsal tilt by approximately 3°. Conclusions: This study showed that the positioning of the fractured forearm during the radiographic procedure significantly impacted subsequent radiographic measurements of tilt. Dorsal tilt measurements increased (ie, fracture displacement measured more dorsal) with pronation and decreased (ie, fracture displacement measured more toward neutral, with less dorsal tilt) with supination of the forearm. However, measurements of RI (p = 0.12 and p = 0.55 for observer 1 and 2) and UV (p = 0.34 and p = 0.17, observer 1 and 2) were not significantly impacted by rotation. Clinical relevance: Treatment of a distal radius fracture is, at least to some extent, based on radiographic quantification of fracture deformity. Therefore, unreliable measurements may adversely influence clinical decision making.

Assessment of Image Quality in Digital Radiographs Submitted for Hip Dysplasia Screening.

Digital radiography is widely seen to be forgiving of poor exposure technique and to provide consistent high quality diagnostic images. Optimal quality images are however not universal; sub-optimal images are encountered. Evaluators on hip dysplasia schemes encounter images from multiple practices produced on equipment from multiple manufacturers. For images submitted to the Danish Kennel Club for hip dysplasia screening, a range of quality is seen and the evaluators are of the impression that variations in image quality area associated with particular equipment. This study was undertaken to test the hypothesis that there is an association between image quality in digital radiography and the manufacturer of the detector equipment, and to demonstrate the applicability of visual grading analysis (VGA) for image quality evaluation in veterinary practice. Data from 16,360 digital images submitted to the Danish Kennel Club were used to generate the hypothesis that there is an association between detector manufacturer and image quality and to create groups for VGA. Image quality in a subset of 90 images randomly chosen from 6 manufacturers to represent high and low quality images, was characterized using VGA and the results used to test for an association between image quality and system manufacturer. The range of possible scores in the VGA was -2 to +2 (higher scores are better). The range of the VGA scores for the images in the low image quality group (n = 45) was -1.73 to +0.67, (median -1.2). Images in the high image quality group (n = 44) ranged from -1.52 to +0.53, (median -0.53). This difference was statistically significant (p < 0.001). The study shows an association between VGA scores of image quality and detector manufacturer. Possible causes may be that imaging hardware and/or software are not equal in terms of quality, that the level of support sought and given differs between systems, or a combination of the two. Clinicians purchasing equipment should be mindful that image quality can differ across systems. VGA is practical for veterinarians to compare image quality between systems or within a system over time.

Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene.

The cytochrome C oxidase assembly protein SCO1 gene encodes a mitochondrial protein essential for the mammalian energy metabolism. Only three pedigrees of SCO1mutations have thus far been reported. They all presented with lactate acidosis and encephalopathy. Two had hepatopathy and hypotonia, and the other presented with intrauterine growth retardation and hypertrophic cardiomyopathy leading to cardiac failure. Mitochondrial disease may manifest in neonates, but early diagnosis has so far been difficult. Here, we present a novel mutation in the SCO1 gene: in-frame deletion (Gly106del)with a different phenotype without encephalopathy, hepatopathy, hypotonia, or cardiac involvement. Within the first 2 h the girl developed hypoglycemia and severe chronic lactate acidosis. Because of the improved technique in whole exome sequencing, an early diagnosis was made when the girl was only 9 days old, which enabled the prediction of prognosis as well as level of treatment. She died at 1 month of age.