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Stickler syndrome (SS) is characterized by ophthalmic, articular, orofacial, and auditory manifestations. SS is usually autosomal dominantly inherited with variants in COL2A1 or COL11A1. Recessive forms are rare but have been described with homozygous variants in COL9A1, COL9A2, and COL9A3 and compound heterozygous COL11A1 variants. This article expands phenotypic descriptions in recessive SS due to variants in genes encoding Type IX collagen. Clinical features were assessed in four families. Genomic DNA samples derived from venous blood were collected from family members. Six affected patients were identified from four pedigrees with variants in COL9A1 (one family, one patient), COL9A2 (two families, three patients), and COL9A3 (one family, two patients). Three variants were novel. All patients were highly myopic with congenital megalophthalmos and abnormal, hypoplastic vitreous gel, and all had sensorineural hearing loss. One patient had severe arthropathy. Congenital megalophthalmos and myopia are common to dominant and recessive forms of SS. Sensorineural hearing loss is more common and severe in recessive SS. We suggest that COL9A1, COL9A2, and COL9A3 be added to genetic screening panels for patients with congenital hearing loss. Although recessive SS is rare, early diagnosis would have a high impact for children with potentially dual sensory impairment, as well as identifying risk to future children.

Limited evidence exists regarding the validity of clinical examination for the detection of shoulder pathology. We therefore wished to establish the sensitivity, specificity, positive predictive value and negative predictive value of clinical tests and magnetic resonance imaging (MRI) in the diagnosis of rotator cuff disorders against findings at arthroscopy. Using recognised tests for specific shoulder lesions, 117 patients with shoulder symptoms awaiting surgery were examined in a standard manner. The diagnoses were categorised and compared with abnormalities found on MRI and at surgery. Results were cross-tabulated to determine the above parameters. Ninety-four patients formed the study group with a mean age of 51 years. The median duration of symptoms was 45 weeks. For clinical examination, sensitivity and specificity to detect a tear or rupture of supraspinatus were 30 % (16/54) and 38 % (15/40) and, for the detection of any pathology, were 94 % (67/71) and 22 % (5/23), respectively, compared with arthroscopy. Correspondingly, the sensitivity of MRI compared with arthroscopy to detect a tear or rupture of supraspinatus was 90 % (28/31) with a specificity of 70 % (46/53), whereas for the detection of any abnormality, the sensitivity was 92 % (65/71) with a specificity of 48 % (11/23). The sensitivity of detecting any rotator cuff abnormality is high when examination and MRI is compared with arthroscopy with the specificity being greater with MRI than examination. In patients with shoulder symptoms severe enough to consider surgery, clinical assessment followed by specific imaging may help define the pathology in order to direct appropriate management.

Aim To determine whether the density of the L1 vertebra measured on computed tomography (CT) images correlates with the bone mineral density (BMD) as measured by quantitative computed tomography (QCT), and to determine the reliability of L1 density measurements by different observers to see if this measure could help identify patients who would benefit from formal BMD assessment. Materials and methods Non-contrast CT along with a phantom for determination of BMD was performed on 30 healthy patients. The L1 density was measured by 3 observers at two time-points separated by at least 2 weeks. Results L1 density was well correlated to the QCT BMD (correlation coefficient 0.83; 95% confidence interval [CI]: 0.67–0.92). There was excellent intra- and interobserver agreement in L1 density measurements. There were excellent intra-class correlation coefficients for each observer's measurements at two separate time points with a coefficient for observer 1 of 0.94 (95% CI: 0.88–0.97) and for observer 2 and 3 of 0.99 (95% CI: 0.98–1). The interobserver measurements had an intra-class correlation coefficient of 0.98 (95% CI: 0.96–0.99). Conclusion L1 vertebral density can be reliably measured on CT images and might be used as an indicator of BMD for opportunistic screening of patients with osteoporosis. Low bone density detected incidentally on CT imaging could be used to identify patients who should be further investigated and treated for osteoporosis.

Aim To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing. Patients and methods It is understood that the National Health Service (NHS) commissioned service at Addenbrookes Hospital, Cambridge, UK has the largest cohort of Stickler syndrome patients in the paediatric age group worldwide with 240 registered children. Fifty-nine were assessed radiologically and for their genotypes. These radiographs were reviewed and 74 knee, 45 pelvic, and 47 spinal examinations were evaluated. Results Radiological features were noted in 45.9% of knee radiographs, 11.1% of pelvic radiographs, and 42.6% of spinal radiographs. The findings were reviewed in the light of each patient's specific genetic Stickler syndrome subtype. Conclusion The prevalence of orthopaedic abnormalities overall in the present series is substantially below those published in previous smaller case series. This would support the more recent findings of an array of ocular only phenotypes of Stickler syndrome described in the literature.

OBJECTIVE: To determine whether a single L1 density threshold can be used to screen all patients undergoing CT at a busy tertiary referral centre for those at risk of osteoporosis. METHODS: 200 patients, who had been randomly selected for an audit of CT reporting of incidental vertebral fractures, had their L1 density measured on 864 routine CT examinations. These had been performed with a variety of kVp and intravenous (i.v.) contrast protocols, reflecting the wide range of imaging indications. RESULTS: L1 density measured on thick axial, thin axial or sagittal images had an excellent intraclass correlation coefficient (0.996). For the same patients imaged twice within 6 months, there was mean intraexamination L1 density difference of 27.5 HU. Variability due to i.v. contrast medium administration resulted in a mean difference of 24.5 HU. Mean difference due to acquisition kVp was 24.1 HU. Once matched for sex, age, kVp and i.v. contrast, there was a significant difference between the L1 density in patients with vertebral fractures compared to those without fractures (mean 30.19 HU). CONCLUSION: There is significant variability in the L1 vertebral body CT density due to differences in acquisition variables such as kVp and timing post-i.v. contrast medium. ADVANCES IN KNOWLEDGE: Previous studies suggested that L1 CT density could be used to screen for osteoporosis. The current study cautions that it is not possible to define a single L1 density threshold for screening, due to the number of variables within a wide range of scanning protocols for different imaging indications in everyday practice.

Standard anatomical textbooks describe the insertion of the subscapularis tendon on to the lesser tuberosity of the humerus. The transverse humeral ligament is also described at this level, as a band of tissue attached to the greater and lesser tuberosities, overlying the long tendon of biceps as it emerges from the capsule of the shoulder joint. The shoulder is a notorious site for anatomical variation but until recently little has been published with regard to the tendon of subscapularis. In this study, we illustrate that considerable variation in the insertion site of the tendon of subscapularis can be demonstrated using magnetic resonance imaging and that only 20% conform to the classic textbook description. In addition, a distinct transverse humeral ligament was identifiable in only a minority of shoulders examined (36%).

Aim To evaluate the feasibility of magnetic resonance (MR)-guided direct arthrography of the glenohumeral joint with a 1.5 T MR system, performing the entire procedure in a single MR examination. Materials and methods MR-guided direct arthrography was performed on 11 patients. MR imaging guidance and interactive MR fluoroscopy, with in-room control and display system, were used for needle placement and contrast medium injection. The outcome measures were success or failure of joint puncture, the time taken for introduction of contrast medium, and the diagnostic quality of the subsequent MR arthrography images. Results Contrast medium was successfully instilled into the joint and diagnostic quality MR arthrography images were obtained in all cases. The median time from initial placement of the skin marker to introduction of the contrast medium was 17 min (range 11–29 min). There were no immediate post-procedure complications. Conclusion Accurate needle placement is feasible in a single MR examination on a commercial 1.5 T closed-bore MR system, using an in-room control and display system together with interactive fluoroscopic imaging, and this was used to provide direct MR arthrography in this study.

Magnetic resonance imaging (MRI) plays a central role in the modern imaging of musculoskeletal disorders, due to its ability to produce multiplanar images and characterise soft tissues accurately. However, computed tomography (CT) still has an important role to play, not merely as an alternative to MRI, but as being the preferred imaging investigation in some situations. This article briefly reviews the history of CT technology, the technical factors involved and a number of current applications, as well as looking at future areas where CT may be employed. The advent of ever-increasing numbers of rows of detectors has opened up more possible uses for CT technology. However, diagnostic images may be obtained from CT systems with four rows of detectors or more, and their ability to produce near isotropic voxels and therefore multiplanar reformats.

Purpose To develop an MR-guided technique for direct magnetic resonance arthrography (DMRA) of the hip using a conventional 1.5 Tesla (T) MRI scanner. Materials and Methods Interactive versions of standard single-shot fast spin echo, coherent gradient echo, and fully balanced steady-state free precession sequences were developed, together with the ability to operate the scanner from within the magnet room. Initial optimization was performed using ex vivo animal joints. After informed consent, five patients underwent DMRA using dilute gadolinium as the contrast medium. Results The procedure was successful in all five patients and diagnostic quality MR arthrography studies were obtained in all cases. The time taken from the initial placement of skin marker to the introduction of contrast medium reduced with successive patients: 26, 22, and 19 min with the final two studies taking 13 min each. Conclusion This work demonstrates the feasibility of performing DMRA using MR guidance, avoiding the need for X-ray fluoroscopy facilities but exploiting the available imaging performance of a high-field closed-bore MR system. The use of an in room control and display system together with interactive fluoroscopic imaging sequences simplifies the positioning of the needle and allows rapid confirmation of an intra-articular injection. J. Magn. Reson. Imaging 2008;28:462–465. © 2008 Wiley-Liss, Inc.

A number of imaging modalities are available for the assessment of soft tissue complaints. The strengths and advantages of each modality must be seen in the context of any corresponding weakness or disadvantage. The sensitivity and specificity of the imaging technique must also be understood. In this article, each main radiological technique will be considered in turn. Fundamental technical aspects and common variations of the basic imaging theme will be explained and their relative strengths and limitations will be explored. Typical common clinical uses in the context of soft-tissue complaints will be considered.

The aim of this study is to measure the ischiofemoral distance (IFD) in the normal hip with healthy surrounding soft tissues and describe its variations caused by gender, age and proximal femoral anatomy so that this could serve as a reference for future studies on this subject. This is a retrospective study in which we reviewed the CT scans of 149 patients (298 hips) who had a CT of their pelvis for non-orthopaedic (abdomino-pelvic) pathology. The images were reviewed by two independent observers and the IFD (the smallest distance between the lateral cortex of the ischial tuberosity and the posteromedial cortex of the lesser trochanter), offset (the perpendicular distance from the centre of the femoral head to a line running down the middle of the shaft of the femur) and the neck-shaft angle (the angle between the lines in the middle of the neck to the line forming the axis of the femoral shaft) were measured. The CT scans belonged to 71 males and 78 females (M: 48%, F: 52%), with an average age of 51 ± 19 years (range 18-92). The mean IFD was 18.6 ± 8 mm in the females and 23 ± 7 mm in the males and this difference was statistically significant (P < 0.001). The IFD increased by 1.06 mm for each 1 mm of offset and dropped by 0.09 mm with each year of age. However, the neck-shaft angle did not show any significant correlation with the IFD.

The purpose of our study was to quantify the impact that MRI of the ankle has on a surgeon's diagnosis and diagnostic confidence and on patient management.A prospective controlled observational study was performed with 91 consecutive referrals (53 males, 38 females; age range, 13-76 years; mean age, 40.6 years) from a single orthopedic foot and ankle surgeon to a regional teaching hospital for ankle MRI. Measurements of diagnostic confidence using a visual analogue scale (VAS) were made both before and after the MRI examination in each case. Proposed management was also recorded before imaging and then with benefit of the MRI result. Finally, the surgeon provided a subjective statement regarding the perceived usefulness of the MRI examination when the patient was subsequently reviewed in the clinic.There was a significant overall change in diagnostic confidence in 65 (71%) cases. The number of diagnoses reduced from an average per patient of 2.3 (95% CI, 2.09-2.44) to 1.2 (95% CI, 1.05-1.39), and in 157 (69%) of all diagnoses entertained, there was a significant change in the confidence with which they were considered after imaging. Management plans changed in 32 (35%) of the patients, and in 31% of those patients for whom plans were changed, a less invasive plan was adopted. Overall, the surgeon thought that understanding of the patient's disease had either depended on MRI or had been substantially improved by it in 60 (66%) cases.MRI of the ankle influences clinicians' diagnoses and management plans.

Background— Rheumatoid arthritis (RA) is associated with increased cardiovascular risk, which is not explained by traditional cardiovascular risk factors but may be due in part to increased aortic stiffness, an independent predictor of cardiovascular mortality. In the present study, our aim was to establish whether aortic stiffness is increased in RA and to investigate the relationship between inflammation and aortic stiffness. In addition, we tested the hypothesis that aortic stiffness could be reduced with anti–tumor necrosis factor-α (TNF-α) therapy. Methods and Results— Aortic pulse-wave velocity (PWV), augmentation index, and blood pressure were measured in 77 patients with RA and in 142 healthy individuals. Both acute and chronic inflammatory measures and disease activity were determined. The effect of anti-TNF-α therapy on PWV and endothelial function was measured in 9 RA patients at 0, 4, and 12 weeks. Median (interquartile range) aortic PWV was significantly higher in subjects with RA than in control subjects (8.35 [7.14 to 10.24] versus 7.52 [6.56 to 9.18] m/s, respectively; P =0.005). In multiple regression analyses, aortic PWV correlated independently with age, mean arterial pressure, and log-transformed C-reactive protein ( R 2 =0.701; P P Conclusions— RA is associated with increased aortic stiffness, which correlates with current but not historical measures of inflammation, suggesting that increased aortic stiffness may be reversible. Indeed, anti-TNF-α therapy reduced aortic stiffness to a level comparable to that of healthy individuals. Therefore, effective control of inflammation may be of benefit in reducing cardiovascular risk in patients with RA.

We discuss the radiological assessment of soft-tissue masses presenting in the shoulder girdle and emphasise the relative strengths and weaknesses of the different imaging modalities available. The appearances of the common benign and malignant soft-tissue tumours are presented together with conditions that present with specific imaging features around the shoulder region.

AIMS To test the hypothesis that the improved resolution afforded by 16-detector computed tomography (CT) would translate to better stress fracture detection when compared with skeletal scintigraphy. MATERIALS AND METHODS Thirty-three cases of suspected stress fractures in 26 patients were investigated using skeletal scintigraphy and 16-detector CT performed on the same day. Planar images of the lower limbs were taken 3h post-injection of 400MBq 99m Tc-methylene diphosphonate ( 99m Tc-MDP). 99m Tc-MDP uptake was quantified at suspected fracture sites. CT was performed using a 16-detector multisection machine employing 0.75mm detectors and images reconstructed in 0.5mm increments. Examinations were reported independently and discordant results were compared at follow-up. RESULTS At initial reporting scintigraphy identified fractures in 13 of the 33 cases and CT identified four of the 33. In one case, on review of the CT images, a fracture was present in the distal fibula that was not initially identified. This resulted in eight scintigraphic-positive CT-negative discordant cases. The 99m Tc-MDP uptake was significantly lower in the discordant fracture group compared with the concordant group ( p CONCLUSIONS Despite technological advances in CT, scintigraphy appeared to detect more stress fractures. As such, multidetector CT should not be used as a routine initial investigation in stress fracture detection. The potential use of 99m Tc-MDP quantification at fracture sites is of interest and may be worth further investigation.

We present a case of giant atypical ossifying fibromyxoid tumour (OFMT) of soft tissue, occurring in the calf, in a 77-year-old woman. The patient presented with a history of bleeding ulcer over a calf lump that had been present for over 4 years. Clinical presentation, radiological features and histopathologic findings are described, and the relevant literature is reviewed.

To compare the measured uptake of 99Tcm-methylene diphosphonate (99Tcm-MDP) in those scaphoid fractures seen on both 16 detector multislice CT and scintigraphy, with those seen only on scintigraphy. Over a 12 month period a total of 51 patients with suspected fracture underwent both conventional 99Tcm-MDP scintigraphy and 16 detector multislice CT on the same day. The 99Tcm-MDP uptake was then quantified in patients with identified fracture. This was measured by placing a region of interest (ROI) over the fracture site and the mean and maximum number of counts were compared with those in a similar size ROI placed over background bone activity. A total of 23 fractures were identified on scintigraphy of which 16 were also detected on CT (concordant). In seven cases the fracture was not seen on CT, even in retrospect (discordant). In the discordant cases, follow-up radiographs and MRI (where available) also failed to demonstrate a fracture. The mean fracture count to background bone activity ratio averaged 7.7 (range 3.2-18.5) for concordant fractures and 3.8 (range 1.7-5.3) for discordant fractures (t-test p=0.04). The maximum fracture count to background bone activity ratio averaged 12.7 (range 4.3-27.7) for concordant fractures and 6.3 (range 2.6-9.5) for discordant fractures (t-test p=0.03). It is speculated whether these discordant fractures with less 99Tcm-MDP uptake may represent a less severe injury such as bone bruise.

Our objective was to assess the potential use of MDCT in the detection of occult scaphoid fractures. Fifty-one patients with suspected radiographically occult scaphoid fractures at 10-14 days after trauma were investigated prospectively with skeletal scintigraphy and CT on the same day. Planar images of the wrist were taken 3 hr after IV injection of 400 MBq of (99m)Tc-methylene diphosphonate using a single-head gamma camera. CT was performed on a 16-MDCT machine using 0.75-mm detectors and reconstruction in 0.5-mm slices. Multiplanar reformatted images were then viewed in interactive cine mode. The examinations were reported independently, and discordant results were compared at follow-up. CT was positive for wrist fracture in 14 (27.4%) of 51 patients and skeletal scintigraphy in 23 (45.1%) of 51 patients. Even after retrospective review, there were seven discrepant cases (13.7%), all of which were positive for wrist fracture on scintigraphy but negative on CT. Four of these seven patients with discordant findings underwent further radiography at 6 weeks, which did not show fracture.Although CT was preferred by most patients and was quicker, scintigraphy appears to detect bony abnormality more frequently. However, there appears to be an interesting group of patients (7/51) with normal initial radiography findings but positive scintigraphy findings who would normally be considered to have a fracture but for whom CT results were negative. In some of these patients, the results of follow-up radiography at 6 weeks were also negative, suggesting that this group of patients warrants further study.

Reduced bone mineral density (BMD) has been reported following allogeneic stem cell transplantation (alloSCT) but the effects of autologous SCT (autoSCT) are less well characterized. We performed a prospective study of BMD changes and its determinants in 44 SCT recipients (38 auto and six allo; 30 peripheral blood SCT and 14 bone marrow transplantation). Serial measurements of BMD at the lumbar spine and femoral neck were performed at baseline and at 3, 6, 12 and 24 months, and spinal radiographs were performed at baseline and 12 months. Mean baseline BMD values at the femoral neck and spine were within normal limits. At 3 months, there was a significant decline of BMD at the femoral neck (P = 0.011) and a non-significant trend towards reduction at the spine. BMD loss persisted for up to 2 years at the femoral neck (P = 0.005), but values returned to baseline at the spine. Reflecting the rapid initial decline in BMD, bone-specific alkaline phosphatase (a serum marker of bone formation) showed a significant initial decline at 1 month but had recovered to pretransplant levels by 3 months. No new fractures were detected at 1 year post transplant. Sex, diagnosis, use of total body irradiation, stem cell source and type of graft (auto versus allo) did not significantly predict BMD change over the first 12 months. In conclusion, significant and persistent bone loss at the femoral neck was demonstrated in this group of patients following stem cell transplantation. The implications of these findings for future fracture risk require further study.

A large family with dominantly inherited rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia, resulting in brachydactyly was linked to COL2A1, the gene encoding proalpha1(II) collagen. Mutational analysis of the gene by exon sequencing identified a novel mutation in the C-propeptide region of the molecule. The glycine to aspartic acid change occurred in a region that is highly conserved in all fibrillar collagen molecules. The resulting phenotype does not fit easily into pre-existing subgroups of the type II collagenopathies, which includes spondyloepiphyseal dysplasia, and the Kniest, Strudwick, and Stickler dysplasias.

Background / Aims : Increased rates of bone loss and fracture have been reported after liver transplantation. The aim of this study was to investigate the effects of a pre-transplant infusion of pamidronate on fracture incidence and bone loss during the first year after transplantation. Methods : Ninety-nine adults awaiting orthotopic liver transplantation (OLT) were randomised to pamidronate or no treatment. Spinal X-rays were obtained at baseline and after 12 months. Bone mineral density (BMD) was measured at the lumbar spine (L1–4) and femoral neck at baseline, and 3, 6, and 12 months after OLT. Results : The incidence of fractures in the first year after OLT was 8%, four patients within the pamidronate treated group and two in the untreated group developing fractures ( P =0.40). No significant spinal bone loss occurred in either group during the first year. However, significant and sustained bone loss occurred at the femoral neck in both groups. No significant differences were seen between pamidronate treated or untreated groups at either site. Conclusions : Pamidronate in the regimen used had no significant effect on fracture rate or BMD post-transplant. The low incidence of fracture and absence of spinal bone loss indicate that bone disease after liver transplantation may be less common than previously reported.

AIM: To review the published diagnostic performance statistics for magnetic resonance imaging (MRI) of the wrist for tears of the triangular fibrocartilage complex, the intrinsic carpal ligaments, and for osteonecrosis of the carpal bones. MATERIALS AND METHODS: We used Medline and Embase to search the English language literature. Studies evaluating the diagnostic performance of MRI of the wrist in living patients with surgical confirmation of MR findings were identified. RESULTS: We identified 11 studies reporting the diagnostic performance of MRI for tears of the triangular fibrocartilage complex for a total of 410 patients, six studies for the scapho-lunate ligament (159 patients), six studies for the luno-triquetral ligament (142 patients) and four studies (56 patients) for osteonecrosis of the carpal bones. CONCLUSIONS: Magnetic resonance imaging is an accurate means of diagnosing tears of the triangular fibrocartilage and carpal osteonecrosis. Although MRI is highly specific for tears of the intrinsic carpal ligaments, its sensitivity is low. The diagnostic performance of MRI in the wrist is improved by using high-resolution T2* weighted 3D gradient echo sequences. Using current imaging techniques without intra-articular contrast medium, magnetic resonance imaging cannot reliably exclude tears of the intrinsic carpal ligaments.Hobby, J. L. (2001). Clinical Radiology , 56 , 50–57.

To analyse and compare all papers published to date (August 2000) that quantify the effectiveness, defined as the impact of clinician's diagnosis or management plans, or patient outcome, of MRI of the shoulder.A computerised search of Index Medicus with a broad search strategy relating to shoulder MRI was performed. Manual assessment of all papers listed was undertaken with classification of each paper depending on whether it addressed questions of (1) technical performance, (2) diagnostic performance or (3) outcome.Four of 265 qualifying papers addressed aspects of effectiveness and these were reviewed. The impact on the clinician's diagnosis varied widely between papers: the primary diagnosis was altered in 23% to 68% of cases, and the management plans were subsequently changed in 15% to 61% of cases. Only one paper addressed the impact on patient health.The effectiveness of MRI of the shoulder depends on the clinical skills of the referring clinician and prevalence of disease in the study population. This will have implications when the effectiveness of an imaging technique between different institutions is compared, and this in turn will influence any comparisons of cost-effectiveness.

Investigation of shoulder pain is important before surgical treatment. The presence or absence of a full-thickness rotator cuff tear (FTRCT) may determine the type of surgical treatment. Both MRI and conventional arthrography can be used, but little is known about their relative diagnostic and therapeutic impact. We performed a prospective trial assessing: (a) the influence of MRI and arthrography results on the clinician's diagnostic thinking (diagnostic impact); (b) the influence of the results on the clinician's therapeutic thinking (therapeutic impact); and (c) the diagnostic performance of the two techniques in patients with surgical confirmation. A total of 104 consecutive patients with shoulder problems referred to a specialist orthopaedic shoulder clinic underwent pre-operative investigation with MRI and arthrography. The surgeon's diagnosis, diagnostic confidence and planned treatment were measured before the investigation, and then again after the results of each investigation. Before the presentation of the investigation, results, the patients were randomised into two groups. In one group MRI was presented first; in the other group, arthrography. The MRI results led to fewer changes in diagnostic category (14 of 46, 30%) than arthrography (20 of 54, 37%), but the difference was not significant (P > 0.5). Magnetic resonance imaging led to slightly more changes in planned management (17 of 47, 36%) than arthrography (14 of 55, 25%), but again the difference was not statistically significant (P > 0.3). The results of the second investigation always had less diagnostic and therapeutic impact than the first. The accuracy of MRI for FTRCT in 38 patients with surgical confirmation was 79%, sensitivity 81% and specificity 78%; the accuracy of arthrography was 82%, sensitivity 50% and specificity 96%. The clinical diagnosis and management plan can be adequately defined by a single radiological investigation. Magnetic resonance imaging and arthrography had fairly similar diagnostic and therapeutic impact and comparable accuracy, although MRI was more sensitive and less specific. Magnetic resonance imaging may be the preferred investigation because of its better demonstration of soft tissue anatomy.

The advent of spiral (helical) computed tomography (CT) has markedly increased the speed of modern CT systems and has found a use in a variety of musculoskeletal applications. However, the limitations of the technique must be understood if examinations are to be tailored and optimised. This review puts the limitations and advantages into context by outlining how spiral CT can be applied to musculoskeletal imaging of the lower limb. Imaging of intra-articular fractures of the calcaneus serves as a timely example of how the imaging parameters can be optimised and where the technique can offer potential advantages over conventional CT.

To quantify how magnetic resonance imaging (MRI) influences clinicians' diagnosis, diagnostic confidence and management plans in patients with shoulder problems. To investigate whether such changes are associated with an improvement in health.A prospective observational study on all patients referred to a regional centre for MRI of the shoulder over a 6-month period. Data on diagnosis, diagnostic confidence and proposed management before MRI were compared with diagnoses and actual management after MRI. In addition, short form 36 item (SF-36) health survey data were collected at referral and again 6 months later.In 86 of 99 MRI referrals there was sufficient clinical data for the patient to enter the study. MRI led to previously unsuspected diagnoses in 20 of 59 patients where the clinicians had provided full diagnostic information before and after the examination. When MRI confirmed the clinical diagnosis, significant improvements in clinicians' diagnostic confidence were found (P0.001). MRI led to a change in management (P0.05) in 44 (62%) of the 71 patients where full management plans were available. Health survey results were available in 62 patients; although there were some improvements in SF-36 scores, these did not reach statistical significance.Magnetic resonance imaging of the shoulder significantly influences clinicians' diagnoses and management plans. However, patients do not record a statistically significant improvement in health-related quality of life over 6 months.

Aims : A preliminary comparison of a prototype breath-hold magnetic resonance cholangio-pancreatography (MRCP) technique for non-invasive imaging of the pancreatic and biliary ducts with endoscopic retrograde cholangio-pancreatography (ERCP). Method : Twenty ERCP and MRCP examinations were performed in 19 patients referred for routine ERCP with suspected biliary or pancreatic abnormalities. The MRCP technique employed a modified heavily T2-weighted thick slice RARE sequence that allowed up to three images to be obtained in a 16 second breath-hold. The examinations were reported independently and the findings compared. Results : MRCP accurately discriminated between patients without obstruction ( n = 12) and those with ( n = 8) and correctly diagnosed the cause of obstruction (three choledocholithiasis, five malignant stricture). In the 12 patients without obstruction the examinations were concordant in eight. In the remaining four patients MRCP provided more information than the corresponding ERCP study, diagnosing a pseudocyst in one patient and visualizing the entire pancreatic duct in three patients in whom this was not possible at ERCP. Conclusions : These preliminary results suggest that a breath-hold MRCP technique may allow the selection of those patients with obstructive lesions that require therapeutic ERCP intervention, and may have the potential to reduce the need for diagnostic ERCP examinations.

The coraco-acromial ligament is important first for the stability of the shoulder joint and second because it can impinge on the rotator cuff. In this study we demonstrate how the coraco-acromial ligament can be shown by magnetic resonance imaging (MRI) in the axial plane as well as in the more conventional coronal and sagittal planes. Clin. Anat. 10:88–91, 1997 © 1997 Wiley-Liss, Inc.

The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and are the most common cause of inherited rhegmatogenous retinal detachment. This review article is intended to provide the ophthalmologist with an update on current research, subgroups, and their diagnosis together with a brief overview of allied conditions to be considered in the clinical differential diagnosis. We highlight the recently identified subgroups with a high risk of retinal detachment but with minimal or absent systemic involvement--a particularly important group for the ophthalmologist to identify.

The recent introduction of 3-Tesla MRI offers substantial advances in musculoskeletal applications. High resolution images can now be obtained with shorter data acquisition times. This article provides a pictorial review of 3-Tesla imaging in the knee with descriptions of both normal anatomy and the more common lesions involving the menisci, ligaments, and articular cartilage. A discussion of the issues associated with imaging at higher field strengths is also included.

Background/aims: The type II collagenopathies are a phenotypically diverse group of genetic skeletal disorders caused by a mutation in the gene coding for type II collagen. Reports published before the causative mutations were discovered suggest heritable bone dysplasias with skeletal malformations may be associated with a vitreoretinopathy. Methods: A retrospective notes search of patients with a molecularly characterised type II collagenopathy chondrodysplasia who had been examined in the ophthalmology clinic was conducted. Results: 13 of 14 patients had a highly abnormal vitreous appearance. One patient aged 11 presented with a total retinal detachment. Two other children aged 2 and 4 had bilateral flat multiple retinal tears on presentation. 10 of 12 patients refracted were myopic. Two patients had asymptomatic lens opacities: one associated with bilateral inferiorly subluxed lenses and the other with a zonule and lens coloboma. Conclusion: Heritable skeletal disorders resulting from a mutation in the gene coding for type II collagen are associated with abnormal vitreous, myopia and peripheral cataract with lens subluxation. In bone dysplasias resulting from a defect of type II collagen there is likely to be a high risk of retinal detachment with a propensity to retinal tears at a young age.

We present a case where MRI and arthrography of the shoulder reports provided seemingly conflicting data. The subsequent findings at arthroscopy revealed a potential pitfall in arthrographic interpretation.

Non-invasive imaging techniques such as ultrasound (US) or computed tomography (CT) are widely used for the diagnosis and monitoring of many pancreatic and biliary tract diseases. However, these techniques have limitations, such as the low sensitivity of ultrasound for detecting common duct calculi, which means that the diagnosis of several common conditions including tumours (benign and malignant), calculi, sclerosing cholangitis and chronic pancreatitis may still require invasive procedures such as endoscopic retrograde cholangiopancreatography (ERCP) or percutaneous transhepatic cholangiography (PTC). These invasive techniques also have disadvantages—for example, ERCP requires direct cannulation of the common bile or pancreatic duct, sedation, the use of ionising radiation and a team of trained, experienced personnel. Complications include haemorrhage, sepsis, pancreatitis, bile leakage, as well as a recognised mortality.1 ERCP may not be technically possible and this, along with the complication rate, has been related to operator experience.2 In clinical practice these complications are usually offset by the diagnostic information obtained and the ability to proceed immediately to therapeutic intervention when required. Magnetic resonance cholangiopancreatography (MRCP) is a relatively new technique for non-invasive imaging of the biliary and pancreatic duct systems. Early trials suggest that it may have a useful role in clinical practice. “MR cholangiopancreatography” refers to a range of techniques for imaging the biliary tree and pancreatic duct that all exploit the intrinsically long T2 relaxation value of many fluids, including biliary and pancreatic duct secretions. The techniques may be classified by: the MR “refocussing” method used (that is, gradient echo or spin echo), image data collection (that is, 2D or 3D), requirement for image processing to suppress background tissues, type of “receiver” coil (that is, body or specialised surface coils), and the approach used to minimise motion related artefacts especially those related to respiration. Early attempts to image the biliary and …

PURPOSE. To determine the molecular defect in a family with autosomal dominant rhegmatogenous retinal detachment (DRRD), and to investigate missplicing as a possible phenotypic modifier of mutations in COL2A1. METHODS. Clinical examination of the family and linkage analysis using markers flanking COL2A1 and COL11A1, the known loci for Stickler syndrome; mutation screening of COL2A1; construction of splicing reporter minigenes and transfection into cultured cells; and RT-PCR analysis of reporter specific transcripts. RESULTS. A family with DRRD showed no systemic clinical signs (skeletal, orofacial, or auditory) usually associated with Stickler syndrome. Linkage analysis excluded COL11A1 as the disease locus but could not exclude COL2A1. Mutation screening of COL2A1 identified a novel G118R mutation in type II collagen. Transfection of minigenes carrying mutations associated with DRRD (G118R, R453X, and L467F) into cultured cells detected no missplicing of mRNA from mutant constructs. CONCLUSIONS. Mutations outside the alternatively spliced exon 2 region of COL2A1 can also result in an ocular only phenotype. There was no evidence that missplicing modifies the phenotype of these mutations, suggesting that the minimal or absent systemic features demonstrated by the G118R and L467F mutations are the result of the biophysical changes imparted on the collagen molecule. (Invest Ophthalmol Vis Sci. 2005;46: 663‐668) DOI:10.1167/iovs.04-1017

The Stickler syndromes1–8 (hereditary arthro-ophthalmopathy; McKusick nos. 108300 and 604841) are one of the more frequently occurring groups of chondrodysplasias and are the commonest inherited cause of rhegmatogenous retinal detachment.9 The majority of patients and pedigrees exhibit the type 1 or “membranous” vitreous phenotype10,11 and harbour mutations in the gene for type II collagen ( COL2A1 ).12–21 While not all mutations in type II collagen result in the membranous vitreous anomaly,22,23 when it is exhibited it appears to be congenital and provides a useful basis for mutant locus assignment. This is particularly helpful for sporadic cases where linkage is impossible, and especially in those individuals with mild or minimal systemic involvement where the diagnosis might otherwise be overlooked.19,24–26 Other pedigrees exhibit a different “beaded” vitreous phenotype and are linked to a different locus.11,27 We reported the first mutation in the gene encoding the α1 chain of type XI collagen ( COL11A1 ) in one of these pedigrees28 and this locus was confirmed in other pedigrees,29,30 and is now known as type 2 Stickler syndrome (McKusick no. 604841). The intimate post-translational molecular associations between types II and XI collagen form the foundation of the close clinical overlap between these two sub-groups of Stickler syndrome, but the extent of this clinical overlap and variation remains to be defined. Whilst type 1 Stickler syndrome pedigrees have a particularly high risk of blindness through giant retinal tear and retinal detachment, Annunen et al suggest that patients with COL11A1 mutations are at a low risk of retinal detachment and have a higher incidence of midfacial hypoplasia.29 This would be an important prognostic difference if confirmed. Here we wish to report the first description of the ophthalmic, oro-facial, audiologial, skeletal, and …

Ascending and descending techniques are used to demonstrate the male anterior urethra. The authors developed an ultrasound approach with the patient compressing his own urethra manually during voiding to achieve distension of the urethra with urine. The subsequent sonourethrography is more accurate than conventional fluoroscopic contrast studies in defining urethral filling defects and is as accurate for the demonstration of strictures. The technique has replaced contrast urethrography at the authors' institutions for the routine evaluation of the anterior urethra.

To evaluate the effect of magnetic resonance (MR) imaging of the wrist on clinicians' diagnoses, diagnostic certainty, and patient care.A controlled observational study was performed. Referring clinicians completed questionnaires about diagnosis and intended management before and after wrist MR imaging. One hundred eighteen consecutive patients referred for MR imaging of the wrist were recruited from the MR imaging units at a regional teaching hospital and a large district general hospital. The main measures were changes in the clinicians' leading and subsidiary diagnoses after MR imaging, their certainty in these diagnoses, and changes in intended patient care.Questionnaires were incorrectly completed for five patients, questionnaires were not returned for three, appointments were canceled for 10, and two could not tolerate the MR examination. Complete follow-up data were available for 98 patients. The clinical diagnosis changed in 55 of 98 patients; in the remaining 43 patients, diagnostic certainty increased in 23. Clinicians reported that MR imaging had substantially improved their understanding of the disease in 67 of 98 patients. The care plan changed in 45 of 98 patients, with a shift away from surgical treatment. Twenty-eight patients were discharged without further investigation. MR imaging was similarly effective in the regional teaching center and the district general hospital.MR imaging of the wrist influences clinicians' diagnoses and management plans.

We have investigated the reliability of communication of uncertainty in radiological reports. The 18 most commonly used verbal expressions of probability were identified from a series of radiological reports. 11 clinicians (three radiologists, three rheumatologists and five orthopaedic surgeons) recorded the probability that they ascribed to each of the 18 expressions using visual analogue scales. Each subject was re-tested on four occasions at least 1 week apart. The results were analysed to assess reproducibility within and between individuals. We found considerable variation in the probabilities assigned to many commonly used expressions between subjects, and between repeated testing of the same subject. Some expressions were rated much more consistently than others. "Absent", "excludes", "unlikely", "probable", "certain" and "definite" were the most consistently rated expressions. We have identified a potential source of misunderstanding in radiological reports owing to differences in interpretation of expressions used by radiologists and referring clinicians.

Background and objectives High rates of bone loss and increased fracture incidence have been reported in patients undergoing liver transplantation, mainly within the first post-operative year. The pathogenesis of post-transplantation bone disease has not been clearly established, but the high doses of glucocorticoids used for immunosuppression may contribute. The use of lower doses in recent years has been associated, in some studies, with lower rates of bone loss and decreased fracture incidence. The aim of this prospective study was to establish the incidence of vertebral fractures in the first 3 months in patients undergoing liver transplantation for chronic liver disease and to identify risk factors for fracture in these patients. Design and methods Thirty-seven adults with end-stage liver disease were studied prospectively prior to and 3 months after liver transplantation. Vertebral fractures were assessed semi-quantitatively from lateral spine X-rays and bone mineral density measured using dual energy X-ray absorptiometry. Results Prior to transplantation, prevalent vertebral fractures were present in 13 patients (35%). New fractures developed after transplantation in 10 patients (27% of total) and were significantly more common in those with a prevalent vertebral fracture pre-operatively (P< 0.02). Osteoporosis, defined as a bone mineral density T score below -2.5, was present in 39% of patients prior to transplantation, but bone mineral density was not helpful in predicting incident fracture, whether measured before or after transplantation. Over the 3-month study period, significant bone loss occurred in the femoral neck (P< 0.05) but not the lumbar spine. Conclusions Our results demonstrate a high incidence of vertebral fracture in the first 3 months after liver transplantation and indicate that prevalent vertebral fracture is an important risk factor for the subsequent development of fracture in these patients. Prevention of post-transplantation bone disease should focus both on optimizing bone mass prior to transplantation and preventing bone loss in the early post-operative period.

The aim of this study was to compare prospectively a breath-hold projection magnetic resonance cholangiopancreatography (MRCP) technique with diagnostic endoscopic retrograde cholangiopancreatography (ERCP). Seventy-six patients with suspected strictures or choledocholithiasis were referred for MRCP and subsequent ERCP examination, which were performed within 4 h of each other. The MRCP technique was performed using fat-suppressed rapid acquisition with relaxation enhancement (RARE) projection images obtained in standardised planes with additional targeted projections as required by the supervising radiologist. Two radiologists (in consensus) assessed the MRCP results prospectively and independently for the presence of bile duct calculi, strictures, non-specific biliary dilatation and pancreatic duct dilatation, and recorded a single primary diagnosis. The ERCP was assessed prospectively and independently by a single endoscopist and used as a gold standard for comparison with MRCP. Diagnostic agreement was assessed by the Kappa statistic. The MRCP technique failed in two patients and ERCP in five. In the remaining 69 referrals ERCP demonstrated normal findings in 23 cases, strictures in 19 cases, choledocholithiasis in 9 cases, non-specific biliary dilatation in 14 cases and chronic pancreatitis in 4 cases. The MRCP technique correctly demonstrated 22 of 23 normal cases, 19 strictures with one false positive (sensitivity 100 %, specificity 98 %), all 9 cases of choledocholithiasis with two false positives (sensitivity 100 %, specificity 97 %), 12 of 14 cases of non-specific biliary dilatation and only 1 of 4 cases of chronic pancreatitis. There was overall good agreement for diagnosis based on a kappa value of 0.88. Breath-hold projection MRCP can provide non-invasively comparable diagnostic information to diagnostic ERCP for suspected choledocholithiasis and biliary strictures and may allow more selective use of therapeutic ERCP.

Objective: Diagnostic technologies are often assessed merely by their accuracy, rather than by their impact on diagnosis and patient management. To this end the authors have undertaken a study to assess the diagnostic and therapeutic impact of magnetic resonance imaging (MRI) and arthrography of the shoulder for patients referred from a rheumatology clinic. Methods and patients: Patients referred from a rheumatology clinic with symptoms warranting imaging of the shoulder were randomised to either MRI or arthrography. Data on the clinician’s diagnostic confidence and management were recorded before and after imaging using questionnaires. Patients were followed-up at least 10 months after imaging to see how management plans evolved, and what proportion of patients required further imaging. Results: Fifty three shoulders underwent imaging over a year and entered into the study; 29 randomised to MRI and 24 to arthrography. Both MRI and arthrography had a similar beneficial diagnostic impact in terms of clinical diagnoses (refuted and retained) and new diagnoses established. MRI and arthrography had a similar therapeutic impact, although MRI was associated with a significant shift towards surgical intervention. Conclusion: MRI and arthrography a have similar diagnostic and therapeutic impact.

110 consecutive patients were asked about their degree of anxiety (SAI scores), pain (VAS scores) and preferences at various stages before and after imaging in order to determine whether patients with shoulder problems prefer MRI or shoulder arthrography. 88 patients underwent MRI, 42 arthrography and 19 both. Mean levels of anxiety were slightly higher for patients undergoing MRI than those having arthrography, but this difference was not statistically significant. There was a statistically significant (p0.03) reduction in anxiety after arthrography, but not following MRI. Pain scores fell for both patient groups while at rest during the imaging procedure compared with their pre-imaging baseline measurement. This was statistically significant (p0.03) for MRI, but not for arthrography. A significantly higher proportion (p0.001) of patients found MRI unpleasant or extremely unpleasant (20/77) compared with arthrography (3/41). Of the 25 patients who expressed a preference on the basis of past or current experience, 11 preferred MRI and 14 arthrography (NS). There was no significant difference in the proportion of patients who would not allow the test to be repeated (29/73 for MRI, 15/39 for arthrography): Although there were minor differences in both the anxiety and pain experienced by patients undergoing MRI and arthrography, this study did not reveal any firm preference for either investigation.

The optimal initial investigation for the post-operative patient with suspected occult intra-abdominal sepsis is controversial, although the diagnostic accuracy of a variety of techniques is known. Our objective is to determine which investigation has the greatest positive effect on patient management.We reviewed 67 consecutive post-operative patients investigated for suspected occult sepsis retrospectively and analysed the sequence of investigations required to achieve the diagnosis depending on the choice of initial investigation, and the interval between between initiating investigations and performing definitive percutaneous drainage.Forty patients had scintigraphy as the initial investigation and 21 of these went on to require CT. None of the 27 patients who had CT as the initial investigation required any other imaging (chi 2 = 20.6, P0.0001) and appropriate percutaneous drainage was offered immediately. Conversely, the average interval to drainage in those who had scintigraphy first was 3.1 days. Fourteen out of 20 patients (70%) who had scintigraphy as the initial investigation following recent surgery, and 7 of 20 (35%) following old surgery, needed subsequent CT. None of the 20 and 7 patients in the recent and old surgery groups respectively who had CT initially required further imaging.Our results suggest recommending CT as the initial investigation in the early post-operative period as this will reduce the total number of investigations required to achieve the diagnosis and the time to definitive drainage. In the late post-operative period, scintigraphy will resolve the majority of problems.

To detect the intrinsic blood supply of the unossified neonatal femoral head in vivo by using power Doppler ultrasound (US) and to ascertain whether a reduction in blood flow could be demonstrated with hip abduction.One hip of 13 neonates was examined with power Doppler sonography. After vessels within the femoral head were identified, the thigh was slowly abducted and the angle at which flow became undetectable was recorded. Spectral Doppler tracings were obtained in all subjects.Intrinsic blood flow of the femoral head was demonstrated in all subjects. Flow became undetectable during hip abduction in 11 of 13 neonates and reappeared during adduction. The angle at which flow became undetectable varied from 60 degrees to 85 degrees. Spectral Doppler signals demonstrated a mixed arterial and venous trace.Power Doppler US provides a simple real-time assessment of the femoral head blood supply. This may prove helpful in identifying neonates at risk of avascular necrosis, a complication of treatment of hip dysplasia with abduction hip restraints.

Stickler syndrome is a genetically heterogenous disorder that affects the ocular, skeletal, and auditory systems. To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilage have been shown to have mutations that result in Stickler syndrome. As systemic features in this disorder are variable we have used an ophthalmic examination to differentiate those patients with a membranous vitreous phenotype associated with mutations in COL2A1, from other patients who may have mutations in other genes. Gene amplification and exon sequencing was used to screen 50 families or sporadic cases with this membranous phenotype, for mutations in COL2A1. Mutations were detected in 47 (94%) cases consisting of 166 affected and 78 unaffected individuals. We also demonstrate that the predominantly ocular form of type 1 Stickler syndrome is not confined to mutations in the alternatively spliced exon 2. Using splicing reporter constructs we demonstrate that a mutant GC donor splice site in intron 51 can be spliced normally; this contributed to the predominantly ocular phenotype in the family in which it occurred. Hum Mutat 27(7), 696–704, 2006. © 2006 Wiley-Liss, Inc.

Background The aim of this study was to assess the efficacy, tolerability and safety of risedronate in adults with CF. Methods Patients with a lumbar spine (LS), total hip (TH) or femoral neck (FN) bone mineral density (BMD) Z-score of −1 or less were randomised to receive risedronate 35mg weekly or placebo, and calcium (1g)+vitamin D 3 (800IU). Results At baseline, BMD Z-scores in the risedronate (n=17) and placebo (n=19) groups were similar. By 24months, 7/17 risedronate patients vs 0/19 placebo patients stopped the study medication due to bone pain. After 24months treatment, the mean difference (95% CI) in change in LS, TH and FN BMD between the risedronate vs placebo groups was 4.3% (0.4, 8.2) p=0.03; 4.0% (−0.5, 8.6) p=0.08; and 2.4% (-3.5, 8.2) p=0.41. Conclusions After two years treatment there was a significant increase in LS BMD with weekly risedronate compared to placebo.