Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature.

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Overestimation of carboplatin doses is avoided by radionuclide GFR measurement.

BACKGROUND: Glomerular filtration rate (GFR) is used in the calculation of carboplatin dose. Glomerular filtration rate is measured using a radioisotope method (radionuclide GFR (rGFR)), however, estimation equations are available (estimated GFR (eGFR)). Our aim was to assess the accuracy of three eGFR equations and the subsequent carboplatin dose in an oncology population. PATIENTS AND METHODS: Patients referred for an rGFR over a 3-year period were selected; eGFR was calculated using the Modification of Diet in Renal Disease (MDRD), Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) and Cockcroft-Gault (CG) equations. Carboplatin doses were calculated for those patients who had received carboplatin chemotherapy. Bias, precision and accuracy were examined. RESULTS: Two hundred and eighty-eight studies met the inclusion/exclusion criteria. Paired t-tests showed significant differences for all three equations between rGFR and eGFR with biases of 12.3 (MDRD), 13.6 (CKD-EPI) and 7.7 ml min(-1) per 1.73 m(2) (CG). An overestimation in carboplatin dose was seen in 81%, 87% and 66% of studies using the MDRD, CKD-EPI and CG equations, respectively. CONCLUSION: The MDRD and CKD-EPI equations performed poorly compared with the reference standard rGFR; the CG equation showed smaller bias and higher accuracy in our oncology population. On the basis of our results we recommend that the rGFR should be used for accurate carboplatin chemotherapy dosing and where unavailable the use of the CG equation is preferred.

Significant differences when using MDRD for GFR estimation compared to radionuclide measured clearance.

OBJECTIVES: To evaluate Estimated Glomerular Filtration Rate (eGFR), using the Modification of Diet in Renal Disease equation, and compare with radionuclide GFR (rGFR) in a Radiology setting to assess renal function prior to contrast administration. METHODS: Five hundred and sixteen retrospective rGFR studies from a mixed referral population were selected and the eGFR calculated. Regression and Bland-Altman analysis was performed. The percentage of rGFR and eGFR studies below 30 ml/min/1.73 m² and 60 ml/min/1.73 m² were calculated; these are important thresholds for classifying renal insufficiency. RESULTS: A significant correlation between eGFR and rGFR (R² = 0.62, p < 0.0001) and significant differences in the medians (p < 0.0001) were found. eGFR overestimated rGFR with a bias (mean difference) of 10.8 ml/min/1.73 m² over the whole range of rGFR. Studies with an rGFR of under 30 ml/min/1.73 m² had a mean bias of 4.6 ml/min/1.73 m² (difference range -5.9 to 26.3 ml/min/1.73 m²). The bias over the range 30 to 60 ml/min/1.73 m² was 13.2 ml/min/1.73 m² (difference range -16.8 to 88.3 ml/min/1.73 m²). In 25.4% of studies, eGFR was less than 60 ml/min/1.73 m² compared with 40.5% of rGFR studies. CONCLUSIONS: Awareness of the bias between eGFR and rGFR is important when assessing Radiology patients for risks of nephrotoxicity and Nephrogenic Systemic Fibrosis from contrast medium.

Sirolimus-associated lymphoedema: eight new cases and a proposed mechanism.

Sirolimus, an inhibitor of the mammalian target of rapamycin (mTOR), is increasingly used as an agent for post-transplant immunosuppression and the treatment of solid organ and haematological malignancies and hamartomas. Its advantages include a lack of nephrotoxicity and a lower incidence of nonmelanoma skin cancers; adverse effects include delayed wound healing, increased lymphocoele formation and rarely lymphoedema. We report a series of eight cases of severe, sustained, unilateral and bilateral lymphoedema in patients receiving sirolimus for post-transplant immunosuppression, classify their lymphoscintigraphy findings and propose a mechanism of aetiology based on the interaction of mTOR with key mediators of lymphangiogenesis.

Sentinel lymph node biopsy using dynamic lymphoscintigraphy combined with ultrasound-guided fine needle aspiration in penile carcinoma.

The purpose of this study was to assess the utility of sentinel lymph node lymphoscintigraphy (SLNL) and ultrasound-guided fine needle aspiration cytology (FNAC) in patients with penile carcinoma. A prospective study was undertaken of 64 patients with stage T1 (or greater) clinically N0 squamous cell carcinoma of the penis. Patients underwent SLNL and bilateral groin ultrasonography with or without FNAC. Following intradermal blue dye, patients underwent unilateral or bilateral sentinel lymph node excision biopsy (SNB). 17 patients had sentinel nodes that contained metastases (21 nodal basins). Lymphatic drainage was demonstrated in all patients by lymphoscintigraphy. Bilateral drainage was seen in 57/64 patients. 61/64 patients had ultrasonography of the inguinal basins on the same day as FNAC of 38 basins. FNAC showed malignancy in eight basins. FNAC was negative in six basins, which were subsequently shown to be positive following SNB. 82 inguinal basins did not warrant FNAC by ultrasound criteria, of which 5 contained metastases at SNB. The sensitivity and specificity of ultrasonography was 74% and 77%, respectively. The positive and negative predictive values were 37% and 94%, respectively. Two patients had a negative initial SNB; however, ultrasonography identified a metastatic node and re-evaluation of the sentinel node confirmed micro-metastases. There has been no evidence of recurrence in any patients with negative SNB (during 6-28 months' follow-up). In conclusion, when investigating clinically stage N0 penile cancer, the combination of SNB and groin ultrasonography, with or without FNAC, identifies accurately those with occult nodal metastases. Ultrasonography alone is not adequate as a staging technique, and SNB alone might miss between 5% and 10% of metastases.

Lymphatic abnormalities demonstrated by lymphoscintigraphy after lower limb cellulitis.

BACKGROUND: Cellulitis is a common cause for admission to hospital, and repeated episodes are thought to damage the lymphatic system. Lymphoedema is recognized as a condition predisposing to cellulitis but there are no data to suggest its prevalence among a population presenting to hospital with acute cellulitis. OBJECTIVES: To ascertain whether lymphatic abnormalities represent a common problem in patients with lower limb cellulitis. METHODS: Patients admitted with cellulitis of the lower limb were invited to undergo clinical examination and lymphoscintigraphy. RESULTS: Thirty patients agreed to participate in the study. Fifteen underwent lymphoscintigraphy. Thirteen had abnormal scans indicating impaired lymph drainage (seven patients had clinical lymphoedema). CONCLUSIONS: Lymphatic abnormalities represent an important but unrecognized problem in patients with leg cellulitis.

Radiotherapy: a novel treatment for pneumothorax.

Pneumothorax is a relatively common condition that is usually managed either conservatively, by chest tube drainage or, if a refractory air leak persists, then with cardiothoracic intervention. However, there is a small group of patients with a persistent air leak in whom surgical intervention is felt to be inappropriate. This study looks at a novel management strategy in a patient presenting with this scenario. A male with underlying bullous lung disease presented with a right pneumothorax. Complete re-expansion was not achieved, despite chest tube drainage and suction. Cardiothoracic intervention was felt to be inappropriate and the air leak persisted despite prolonged conservative management. Ventilation scintigraphy was therefore used to localise the air leak prior to targeted radiotherapy in an attempt to seal the leak via radiation-induced fibrosis. Three weeks after the first fraction of radiotherapy, the air leak ceased. In complex cases of pneumothorax with persistent air leak where cardiothoracic intervention is deemed inappropriate, identification of the air leak site and localised radiotherapy could be considered.

Magnetic resonance imaging in prostate cancer.

With the recently published National Institute of Clinical Excellence guidelines, it is now generally accepted that magnetic resonance imaging (MRI) is the imaging method of choice for staging prostate cancer in patients for whom radical treatment is being considered. MRI offers the single most accurate assessment of local disease and regional metastatic spread. As well as detecting extraprostatic extension, this technique can locate the site of intraprostatic disease, which may prove useful in planning disease-targeting therapies currently being developed. However, numerous studies have reported widely varying accuracies indicating that MRI is not the perfect imaging modality; microscopic and early macroscopic invasion cannot be reliably shown using current technology. The role of MRI including advantages, limitations and future developments will be discussed.

Effective dose at pneumatic reduction of paediatric intussusception.

AIM: The purpose of this study was to assess screening times and resulting dose implication at pneumatic reduction of intussusception in the paediatric age group and to examine the relationship with the outcome of the procedure. MATERIALS AND METHODS: We retrospectively reviewed the case notes and departmental records of 143 children who had undergone a total of 153 pneumatic reductions in our department over a 4-year period. Success rates, screening times and available dose-area products (DAP) were recorded. The DAPs were converted to effective dose (ED) for 77 procedures. RESULTS: A 76.5% (117/153) success rate was achieved with a recurrence rate of 6.5% and only one complication: a perforation. Screening times were recorded in 137 reductions and ranged from 15 s to 22.6 min. Although the longest screening time was associated with an unsuccessful outcome, the second longest time of 21 min was successful. This gave a DAP of 1278 cGy cm(2)and an ED of 12.73 mSv, which is equivalent to approximately 400 abdominal films for a 1-year-old. A lifetime risk of fatal cancer of one in 1000 was achieved, assuming the worst case, after a screening time of 30 min on our conventional fluoroscopy unit. CONCLUSION: Our success rate compares well with other centres. Our institution is a tertiary referral centre and the occasional long screening time may reflect the delay and complex nature of the patients referred. Persistence at air reduction may be successful and the success rate increases with delayed attempts but the risks of the increasing radiation burden must be weighed against the risks of emergency surgery and anaesthesia.Heenan, S. D. (2000). Clinical Radiology 55, 811-816.

Evaluation of the pullback atherectomy catheter in the treatment of lower limb vascular disease.

PURPOSE: To evaluate prospectively the Pullback Atherectomy Catheter (PAC) in terms of its technical success and 1-year patency in the treatment of lower limb vascular disease.M ETHODS: Thirty-nine PAC procedures were performed in 34 patients to treat atherosclerotic disease (occlusive in 51%) of the femoropopliteal arteries, including four cases of graft neointimal hyperplasia and three dissection flaps. Follow-up was by ankle-brachial indices at 24 hr and 1 month, and arteriography at 6 and 12 months. RESULTS: Technical success was achieved in 38 of 39 procedures (97.4%). There was a reduction in mean stenosis from 89.4% to 12.1%, but 69.2% of procedures required additional balloon dilatation to achieve an adequate arterial lumen. Complications followed 15.4% of procedures, a third of which required surgery. CONCLUSION: The PAC is an easy and relatively safe catheter to use, but does not provide a satisfactory arterial lumen without additional percutaneous transluminal angioplasty (PTA). It proved to be effective, however, in the treatment of graft neointimal hyperplasia and in the resection of obstructive intimal flaps following PTA.

Transbrachial arteriography: indications and complications.

PURPOSE: to retrospectively evaluate brachial artery puncture at the antecubital fossa with regard to the indications for and complications arising from the procedure. PATIENTS AND METHODS: Sixty-two cumulative brachial artery punctures in fifty-three patients over a 5-year-period were retrospectively studies. RESULTS: In the majority of cases the brachial approach was utilised in order to avoid groin puncture in patients with absent femoral pulses or recent graft surgery. Occasionally it was performed as a more direct method of assessing upper limb arterial anatomy. Catheter sizes ranged from 3F to 8F. Fifty-one (82%) of the procedures were diagnostic and 11 (18%) were interventional. Glyceryl trinitrate was routinely administered. The overall incidence of complications was low (8%) and included haematoma and arterial spasm. None required surgical intervention and all resolved without permanent sequelae. CONCLUSION: Brachial artery puncture at the antecubital fossa is a suitable site of access for both diagnostic and interventional procedures. Potential limitations are the long distance from puncture site to that of intervention and damage to the brachial artery can result in upper limb ischaemia. Percutaneous brachial artery puncture at the antecubital fossa is, however, a low-risk alternative to either intravenous digital subtraction angiography or axillary artery puncture in patients in whom the femoral approach is contraindicated.

Septic arthritis in a lumbar facet joint: a rare cause of an epidural abscess.

A 10-year-old boy presented with a 7-day history of back pain and pyrexia. MRI showed an epidural abscess arising from septic arthritis in a lumbar facet joint. Whilst septic arthritis in a large joint is relatively common in children, epidural abscess is rare. This case illustrates how infection in a synovial joint may extend into the extradural space and might be the route of infection in more cases than has previously been recognised.

Lymphatic filling in arthrography following total hip replacement.

The significance of lymphatic filling at hip arthrography on prosthetic hips is uncertain. Clearly if lymphatic opacification has a direct relationship to loosening, this could lead to increased surgical exploration. Ninety-one patients were studied to determine whether opacification of lymphatics during hip arthrography correlated with loosening of the prosthetic hip. Plain radiographs were evaluated and a total of 92 hip arthrograms were assessed retrospectively. Radiological evidence of prosthetic loosening at hip arthrography was present in 61 patients. Fifty-three patients subsequently had surgical exploration and 50 were confirmed to have loose and/or infected components. In only 18 of these patients had lymphatic filling been demonstrated at arthrography. No evidence of loosening was seen in 23 patients; however, lymphatic opacification occurred in 10 of these arthrograms. This study does not demonstrate any correlation between prosthetic loosening, either with or without infection, and filling of the nearby lymphatic vessels. This finding contradicts an earlier report in the literature.

MRI appearances of the asymptomatic patellar tendon on gradient echo imaging.

Thickening of the patellar tendon and foci of increased signal intensity have been described as characteristic features of "jumper's knee" (chronic patellar tendinitis) on magnetic resonance imaging (MRI). It was our impression that such appearances may be seen in the patellar tendons of patients without symptoms referable to the anterior part of the knee when using gradient echo images. The appearances of the asymptomatic patellar tendon on three-dimensional gradient echo sequences were studied by retrospectively reviewing the images of 60 patients, none of whom had symptoms related to the anterior part of the knee. The anteroposterior width of the patellar tendon was measured at three levels (superior, middle and inferior) on the central sagittal image of a gradient echo sequence. The relative signal intensities at the same levels were recorded. In 97% of subjects the superior part of the tendon was wider than the midpoint, and in 97% the inferior part was wider than the midpoint. The range of widths was wide, and there was no significant difference between sexes. Focal increased signal intensity in the superior part was shown in 75%, and in the inferior part in 43%. The asymptomatic patellar tendon shows uniform thickness throughout most of its length, but there are focal expansions at the proximal and distal ends. It usually demonstrates low signal on MRI, but may contain foci of increased signal intensity at either or both ends when imaged on gradient-echo sequences.