Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.

Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations result in plasma and lysosome accumulation of glycosphingolipids, leading to progressive organ damage and reduced life expectancy. Due to the availability of specific disease-modifying treatments, proper and timely diagnosis and therapy are essential to prevent irreversible complications. However, diagnosis of FD is often delayed because of the wide clinical heterogeneity of the disease and multiple organ involvement developing in variable temporal sequences. This observation is also valid for renal involvement, which may manifest with non-specific signs, such as proteinuria and chronic kidney disease, which are also common in many other nephropathies. Moreover, an additional confounding factor is the possibility of the coexistence of FD with other kidney disorders. Thus, suspecting and diagnosing FD nephropathy in patients with signs of kidney disease may be challenging for the clinical nephrologist. Herein, also through the presentation of a unique case of co-occurrence of autosomal dominant polycystic kidney disease and FD, we review the available literature on cases of coexistence of FD and other renal diseases and discuss the implications of these conditions. Moreover, we highlight the clinical, laboratory, and histological elements that may suggest clinical suspicion and address a proper diagnosis of Fabry nephropathy.

Value of Early Post-Operative Growth Hormone Testing in Predicting Long-Term Remission and Residual Disease after Transsphenoidal Surgery for Acromegaly.

INTRODUCTION: Surgical remission for acromegaly is dependent on a number of factors including tumour size, invasiveness, and surgical expertise. We studied the value of early post-operative growth hormone (GH) level as a predictor of outcome and to guide early surgical re-exploration for residual disease in patients with acromegaly. METHODS: Patients with acromegaly undergoing first-time endoscopic transsphenoidal surgery between 2005 and 2015, in 2 regional neurosurgical centres, were studied. Insulin-like growth factor-1 (IGF-1), basal GH (i.e., sample before oral glucose), and GH nadir on oral glucose tolerance test (OGTT) were tested at various time points, including 2-5 days post-operatively. Definition of disease remission was according to the 2010 consensus statement (i.e., GH nadir <0.4 µg/L during an OGTT and normalized population-matched IGF-1). Forward stepwise logistic regression was used to determine factors associated with remission. RESULTS: We investigated 81 consecutive patients with acromegaly, 67 (83%) of which had macroadenomas and 22 (27%) were noted to be invasive at surgery. Mean follow-up was 44 ± 25 months. Overall, surgical remission was achieved in 55 (68%) patients at final follow-up. On univariate analysis, the remission rates at the end of the study period for patients with early post-operative GH nadir on OGTT of <0.4 (N = 43), between 0.4 and 1 (N = 28), and >1 µg/L (N = 8) were 88, 54, and 20%, respectively. Similar results were seen with basal GH on early post-operative OGTT. On multivariate regression analysis, pre-operative IGF-1 (odds ratio of 13.1) and early post-operative basal GH (odds ratio of 5.0) and GH nadir on OGTT (odds ratio of 6.8) were significant predictors of residual disease. Based on a raised early GH nadir and post-operative MR findings, 10 patients underwent early surgical re-exploration. There was reduction in post-operative GH levels in 9 cases, of which 5 (50%) achieved long-term remission. There was an increased risk of new pituitary hormone deficiencies in patients having surgical re-exploration compared to those having a single operation (60 vs. 14%). CONCLUSIONS: An early post-operative basal GH and GH nadir on OGTT are reliable predictors of long-term disease remission. It can be used to guide patients for early surgical re-exploration for residual disease, although there is increased risk of hypopituitarism.

Multidisciplinary ocular and periocular cancers meetings: implementation in a tertiary referral center and analysis over a 12-months period.

PURPOSE: The complexity of multimodal approaches in cancer management has lately led to the establishment of multidisciplinary tumor boards (MDTBs) to define targeted, patient-centered treatment strategies. However, few data are available regarding the application of this approach in Ocular Oncology. Hereby, the Authors analyze the implementation and outcomes of a trained MDTB in a tertiary ocular oncology referral center. METHODS: A retrospective descriptive analysis of MDTB meetings discussing patients with ocular and periocular cancers, over a 12-months period, was carried out. Data were grouped by main site involved, topics discussed and final clinical decisions therefore taken. Meetings were held by a constant 'Core team' or - when required - by a broader 'Extended team'. RESULTS: During the observational period 86 cases were discussed. In 27 patients ocular surface tissues were involved (31%), in 25 patients orbital tissues (29%), in 22 patients eyelids (26%), and in 12 patients intraocular tissues (14%). In 13 cases (15%) naïve or referred new patients, in 34 cases (40%) imaging or histopathologic reports and in 39 cases (45%) treatment plans were discussed. Regarding final decisions, a treatment plan was scheduled in 47 cases (55%) and a diagnostic ascertainment was required in 27 patients (31%); locally advanced and/or systemic diseases were referred or teamed up with other specialists in 12 cases (14%). CONCLUSIONS: Ocular Oncology multidisciplinary team, by sharing expertise of different specialists, ensures a comprehensive evaluation of patients improving the accuracy of diagnosis and staging upon which planning a proper treatment. Further studies are needed to assess if this approach may also improve the outcomes and prognosis of patients.

Equivalent outcomes in nasal symptoms following microscopic or endoscopic transsphenoidal surgery: results from multi-centre, prospective study.

BACKGROUND: T ranssphenoidal surgery (TSS) is the standard approach for resection of pituitary lesions. Historically, this has utilized the microscopic approach (mTSS); however, the past decade has seen widespread uptake of the endoscopic approach (eTSS). The purported benefits of this include improved visualization and illumination, resulting in improved surgical and endocrinological patient outcomes. It is also believed that eTSS results in fewer post-operative nasal symptoms compared to mTSS; however, few papers have directly compared these groups. OBJECTIVES: We sought to compare nasal symptoms after endoscopic uninostril (eTSS-uni), endoscopic binostril (eTSS-bi) and microscopic endoscopic transsphenoidal surgery (mTSS). METHODS: The General Nasal Patient Inventory (GNPI) was prospectively administered to 136 patients (71 non-functioning adenomas, 26 functioning adenomas, 39 other pathology) undergoing transsphenoidal surgery at multiple time points (pre-operatively; days 1, 3 and 7-14; months 1, 3 and 6 and 1 year post-operatively). All surgeries were performed by subspecialist pituitary surgeons in three subgroups - mTSS (25), eTSS-uni (74) and eTSS-bi (37). The total GNPI scores (0-135) and subscores for the 45 individual components were compared across three groups assessing for temporal and absolute changes. RESULTS: Irrespective of surgical approach used, GNPI scores were significantly higher on post-operative day 1 (p < 0.001) and day 3 (p ≤ 0.03) compared to pre-treatment baseline (mixed-effects model). By 1 month post-operatively, however, post-operative GNPI scores were no different from pre-treatment (p > 0.05, mixed-effects model). Whilst the eTSS-uni group demonstrated significantly lower GNPI scores at day 1 post-op compared to the mTSS group (p = 0.05) and eTSS-bi group (p < 0.001), there was no significant difference in post-operative scores between approaches beyond 1-2 weeks post-operatively. Similar results were obtained when the non-functioning tumour group was analysed separately. CONCLUSIONS: Transsphenoidal pituitary surgery is well tolerated. Post-operative nasal symptoms transiently worsen but ultimately improve compared to pre-operative baseline. Operative approach (microscopic, endoscopic uninostril or endoscopic binostril) only has a transient effect on severity of post-operative nasal symptoms.

Reducing adverse events associated with the glucagon stimulation test for the assessment of growth hormone deficiency in adults with a high prevalence of pituitary hormone deficiencies.

DESIGN: A retrospective review of the adverse events (AEs) in 78 patients during the glucagon stimulation test (GST) for the assessment of growth hormone deficiency (GHD) before and after protocol amendments which aimed to reduce AEs in a group of patients with a high prevalence of pituitary hormone deficiencies. PATIENTS: Based on our observations of frequent AEs during the standard GST protocol in an initial 25 patients (cohort 1), a modified protocol was introduced to include the routine administration of 20 mg of hydrocortisone pre-GST in a subsequent 53 patients (cohort 2). Post hoc analysis of the effect of glucocorticoid dosing pre-GST on AEs was examined in those receiving <20 mg hydrocortisone (group A, n = 19) vs ≥20 mg hydrocortisone (group B, n = 59). MEASUREMENTS: AEs including hypotension, hypoglycaemia and nausea/vomiting. RESULTS: Of the 78 patients undergoing the GST, 79% had ≥2 hormone deficiencies. Rates of AEs were 41% vs 30% for hypotension, 60% vs 28% for hypoglycaemia (p < .05) and 20% vs 13% for nausea/vomiting in cohort 1 compared with cohort 2, respectively. Post hoc analysis revealed lower rates of AEs in those receiving ≥20 mg hydrocortisone (group B) compared to those receiving <20 mg due to a reduction in hypoglycaemic events (82% vs 26%, p < .001) and hypotension (50% vs 27%, p = .05). Similar numbers of patients in group A and group B met criteria for GHD. CONCLUSIONS: In patients with a high prevalence of pituitary deficiencies, a modified GST protocol of additional stress dose glucocorticoid attenuated the frequency of AEs without appearing to compromise the performance of the GST.

Clinical-Radiological Patterns and Histopathological Outcomes in Non-Thyroid Extraocular Muscle Enlargement: Retrospective Case Series and Current Concepts.

PURPOSE: To report a single-center experience with non-thyroid causes of extraocular muscle enlargement (EME), describing the association between clinical-radiological findings at presentation and the final histopathological diagnosis. METHODS: Retrospective consecutive case series of 59 patients with single or multiple EME on orbital imaging, in the absence of an etiological diagnosis at the time of presentation. All patients were submitted to orbital muscle biopsy in order to achieve a final etiological diagnosis. Patients with a confirmed diagnosis of thyroid-associated orbitopathy and vascular causes of EME which were angiographically and clinically diagnosed were excluded. Orbital ultrasound and radiologic evaluation (CT and/or MRI) were performed before surgery in all cases. Main outcomes measured included initial clinical-radiological findings and final histopathological features of EME. RESULTS: A diagnosis of lymphoma was confirmed in 13 cases (22%). Sixteen cases (27%) were diagnosed as orbital inflammatory disease including nonspecific idiopathic orbital inflammatory disease in 9 cases, IgG4-related disease in 4 cases, and sclerosing idiopathic orbital inflammatory disease in 3 cases. In 11 patients (18%), a diagnosis of metastatic tumor was made, whereas sarcoidosis, vascular malformations, Erdheim-Chester, and necrobiotic xanthogranuloma were diagnosed in 8 eyes (13.5%). Three patients (5%) with single muscle enlargement developed Graves disease 10 months later. Four patients (6.7%) were diagnosed with granulomatosis with polyangiitis. In 2 cases (3.3%), the diagnosis was unknown, with inconclusive biopsy results. Differential patterns for inflammatory/vascular, lymphomatous and metastatic EME were identified based on age and gender distribution and clinical-radiological characteristics at presentation. CONCLUSIONS: Initial clinical and radiological features may orientate the differential diagnosis of non-thyroid EME.

Pembrolizumab as first-line treatment for metastatic uveal melanoma.

BACKGROUND: No standard treatment has been defined for metastatic uveal melanoma (mUM). Although clinical trials testing Nivolumab/Pembrolizumab for cutaneous melanoma did not include mUM, anti PD-1 agents are commonly used for this disease. PATIENTS AND METHODS: In this prospective observational cohort single arm study, we investigated efficacy and safety of Pembrolizumab as first-line therapy for mUM. The efficacy was evaluated in terms of progression-free survival (PFS), response rate and overall survival (OS). Toxicity was also assessed. RESULTS: Seventeen patients were enrolled. A median of 8 cycles were administered (range 2-28). Two patients achieved partial response (11.7%), 6 a disease stabilization (35.3%), whereas 9 (53%) had a progression. No complete response was observed. PFS of the overall population was 3.8 months. PFS was 9.7 months for patients with an interval higher than 5 years from diagnosis of primary tumor to metastatic disease and 2.6 months for patients with an interval lower than 5 years [p = 0.039, HR 0.2865 (95% CI 0.0869-0.9443)]. Median OS was not reached. The two responding patients were still on treatment with Pembrolizumab at the time of data analysis. Survival was 12.8 months for patients with clinical benefit, while OS for progressive patients was 3.1 months. PD-L1 expression and genomic abnormalities predictive of relapse after diagnosis of primary tumor were not associated with PFS. Toxicity was mild, without grade 3-4 side effects. CONCLUSIONS: The efficacy of Pembrolizumab does not seem particularly different when compared to other agents for mUM, but responding patients had a remarkable disease control.

Younger age is a risk factor for regrowth and recurrence of nonfunctioning pituitary macroadenomas: Results from a single Australian centre.

OBJECTIVE: The natural history of nonfunctioning pituitary macroadenomas (NFPMA) after surgical resection is variable, with guidelines unable to define the duration of radiological follow-up. In this first Australian series, we identify risk factors for regrowth/recurrence of NFPMA to assist with guiding recommendations for long-term follow-up. DESIGN: Retrospective analysis of all radiotherapy-naïve cases with NFPMA resected between 1995 and 2013. PATIENTS: One hundred and twenty-three cases had both ≥2 postoperative scans and ≥12-month follow-up. MEASUREMENTS: Regrowth was defined as any sustained increase in diameter of residual adenoma or recurrence as any new adenoma occurring post complete resection on serial pituitary MRI. RESULTS: Median follow-up time was 48 months (interquartile range [IQR]: 31-86). Overall regrowth/recurrence occurred in 29% (36/123). Regrowth occurred in 40% (30/76) at a median time of 44.5 months (IQR 22-80) compared to recurrence of 12.5% (6/48; P=.003), occurring at a median time of 48 months (IQR 12-96; P=.7). Further treatment was required in 66.7% and 56.7%, respectively (=1.0). Risk factors for regrowth/recurrence by multivariate analysis were presence of residual disease and younger age at presentation. The longest time for regrowth was 168 months (14 years) and recurrence 156 months (13 years). CONCLUSIONS: Presence of postoperative residual adenoma and younger age at presentation are the main predictors of regrowth/recurrence in NFPMA. Long-term serial imaging is required to detect regrowth and recurrence in younger patients and those with residual disease. Most regrowth/recurrences will occur within 10 years of follow-up.

BRACHYTHERAPY ALONE OR WITH NEOADJUVANT PHOTODYNAMIC THERAPY FOR AMELANOTIC CHOROIDAL MELANOMA: Functional Outcomes and Local Tumor Control.

PURPOSE: To compare visual outcomes and local tumor control between two groups of patients with amelanotic choroidal melanoma treated with brachytherapy alone, or neoadjuvant photodynamic therapy before brachytherapy. METHODS: Patients diagnosed with amelanotic choroidal melanoma were recruited for the study and divided into two groups: brachytherapy alone (Group A) and photodynamic therapy preceding brachytherapy (Group B). Patients of both groups were selected to be comparable. RESULTS: Twenty-six patients with amelanotic choroidal melanoma were enrolled in the study. Within Group B, 1 month after photodynamic therapy, ultrasonography showed reduction of tumor height in 11 patients (73.4%). The mean doses of irradiation to macula and optic nerve, at baseline were 74.37 and 52.07 Gy, whereas after photodynamic therapy there was a decrease of 17.26% (P = 0.008) and 21.22% (P = 0.025), respectively. In terms of visual acuity, a mean decrease of 14 ETDRS letters and 5 ETDRS letters was observed at 24 months follow-up, in Groups A and B, respectively (P = 0.001). CONCLUSION: Photodynamic therapy as neoadjuvant therapy before brachytherapy reduces tumor thickness in 73.4% of cases. As a result, a decrease of radiation toxic effects on visual function could be obtained, without compromising disease control.

Delayed pan-hypopituitarism as a complication following endovascular treatment of bilateral internal carotid artery aneurysms. A case report and review.

Pan-hypopituitarism has been reported in patients who are subsequently found to have a cerebral aneurysm and there have been reports of pituitary dysfunction immediately following both surgical and endovascular treatment. The authors report a rare case of delayed pan-hypopituitarism following endovascular treatment of bilateral internal carotid artery aneurysms with coil embolisation and flow-diverting stents.

Hypophysitis due to IgG4-related disease responding to treatment with azathioprine: an alternative to corticosteroid therapy.

PURPOSE: Fifteen cases of lymphocytic hypophysitis due to IgG4-related disease have been reported demonstrating marked improvement with corticosteroid therapy. This is the first case of IgG4-related hypophysitis demonstrating improvement with azathioprine, where corticosteroids were initially tried but ceased due to concern regarding enlargement of the pituitary infiltrate. METHODS: Case description and review of 15 cases reported in the literature. A 40 year old male was diagnosed with IgG-4 related disease based on pituitary and lacrimal gland biopsies associated with raised serum concentration of IgG4. The patient was commenced on prednisolone 30 mg/day, as rapid response to prednisolone treatment has been described in the literature for other cases of IgG4-related hypophysitis. Over the next 3 months, prednisolone treatment resulted in a reduction of serum IgG4 levels, but repeat MRI scan showed an enlarging pituitary mass with new optic nerve compression. Azathioprine 75 mg twice daily was commenced and in the subsequent 3 months, IgG4 levels normalised (0.58 g/L) and MRI scan showed 50% shrinkage of the pituitary mass. After 10 months of azathioprine treatment the MRI showed a normal sized pituitary but persistence of the infraorbital nerve thickening. CONCLUSIONS: Hypophysitis due to IgG4-related disease usually demonstrates prompt response to corticosteroids. This case highlights the need to image promptly after starting treatment to exclude an enlarging pituitary mass despite corticosteroid treatment. Alternative therapy with azathioprine can result in marked improvement. It should be remembered that IgG-4 related hypophysitis is part of a multi-organ disease.

Uveal melanoma: evaluation of extrascleral extension using thin-section MR of the eye with surface coils.

PURPOSE: This study was done to evaluate the role of high-resolution magnetic resonance (MR) imaging with special surface coils in selecting the correct therapeutic approach (eye enucleation or follow-up) in patients with suspected extrascleral extension of uveal melanoma. MATERIALS AND METHODS: This prospective study involved 12 patients with suspected extrascleral extension of uveal melanoma on orbital ultrasonography. All patients were studied with thin-section MR imaging of the eye using surface coils. RESULTS: High-resolution MR imaging of the eye excluded extrascleral extension of disease in 8/12 patients: in 4/8 cases it revealed vascular ectasia and in the other 4/8 cases the linear hypointensity of the sclera was unbroken. Seven of these eight patients were followed up by ultrasound, which showed stability of melanoma for at least 2 years, while the last patient underwent enucleation, and the histological examination confirmed the MR diagnosis. In 4/12 patients, high-resolution MR suggested a diagnosis of extrascleral extension of melanoma, which was confirmed at histological examination after enucleation. CONCLUSION: High-resolution MR imaging of the eye with surface coils allowed us to evaluate extrascleral extension of uveal melanoma and choose the correct therapeutic approach, avoiding unnecessary enucleation in 7/12 patients.

Incidental Finding of Suprachoroidal Space's Silicone Oil Migration: A Tumor-Mimicking Lesion and Its Clinical Management.

The migration of silicone oil into the suprachoroidal region is a rare complication of vitrectomy. A 70-year-old man was admitted to our ocular oncology unit with a choroidal elevation in the nasal area, as well as signs of pars plana vitrectomy surgery performed about 5 years ago for retinal detachment. The patient underwent ocular ultrasound, visual field test, fluorangiography, and magnetic resonance imaging, which led to the diagnosis of silicone oil migration in the suprachoroidal space. Silicone oil may move into the suprachoroidal area, mimicking choroidal neoformation. It is important to have a comprehensive diagnosis and then set up the appropriate treatment. [Ophthalmic Surg Lasers Imaging Retina 2024;55:104-108.].

Gender differences in presentation and outcome of nonfunctioning pituitary macroadenomas.

OBJECTIVES: Few data exist regarding gender differences in hormonal outcomes in nonfunctioning pituitary macroadenomas (NFPMA). The aim was to assess whether there are gender differences in hormonal outcomes in NFPMA following pituitary surgery at a single centre. DESIGN AND METHODS: Retrospective review of cases undergoing a first surgical procedure for NFPMA. Preoperative hormonal function was available for 122 cases at presentation and 94 cases 6 months postoperatively. Multiple hormone deficiency was defined as ≥2 hormonal axis losses. Tumour size and invasion on MRI scan were assessed independently by a single neuroradiologist. RESULTS: At presentation, men were more likely than women to have multiple hormonal deficiency (47% vs 28%, P = 0·038). Premenopausal women tended to have smaller adenomas than men, but neither adenoma size nor invasion was associated with multiple hormonal deficiency at presentation. Postoperatively, differences were observed with only 14% of premenopausal women exhibiting multiple hormone deficiency, compared with 36% of postmenopausal women and 46% of men (P = 0·03). Overall, postoperative hormonal recovery was observed in over one-third of cases. Greatest recovery occurred in the gonadal axis of 60% (6/10) premenopausal women compared with 19% (8/43) of other groups combined (P = 0·007). CONCLUSIONS: Premenopausal women with NFPMA appear to have favourable hormonal outcomes. This may be due to a complex interplay between smaller tumour size and shorter disease duration. There should be no hesitation in offering pituitary surgery to premenopausal women with NFPMA, who have the most to gain in terms of restoration of hormonal function.

Headache Improvement Following Endoscopic Resection of Pituitary Adenomas.

BACKGROUND: Headache is a common symptom in patients with pituitary adenomas. Research on whether resection of pituitary adenomas via the endoscopic endonasal approach (EEA) affects headaches is limited, and the pathophysiology of headaches associated with pituitary adenomas remains unclear. This study aimed to determine if resection of pituitary adenomas via the EEA improves headaches and investigate factors that may be associated with headaches in patients with pituitary adenoma. METHODS: A prospectively collected database of 122 patients undergoing resection of pituitary adenoma via the EEA was analyzed. Patient-reported headache severity was collected prospectively using the Headache Impact Test (HIT-6) at preoperative baseline and 4 postoperative time points (3 weeks, 6 weeks, 3 months, and 6 months). RESULTS: Adenoma size and subtype, cavernous sinus invasion, and hormonal status were not associated with preoperative headache burden. In patients with preoperative headaches (HIT-6 score >36), significant decreases in HIT-6 score were observed postoperatively at 6 weeks (5.5-point improvement, 95% CI 1.27-9.78, P < 0.01), 3 months (3.6-point improvement, 95% CI 0.01-7.18, P < 0.05), and 6 months (7.5-point improvement, 95% CI 3.43-11.46, P < 0.01). The only factor associated with headache improvement was cavernous sinus invasion (P = 0.003). Adenoma size and subtype and hormonal status were not associated with postoperative headache burden. CONCLUSIONS: Resection via the EEA is associated with significant improvement in headache-related impact on patient functioning from ≥6 weeks after surgery. Patients with cavernous sinus invasion are more likely to experience improvement in headaches. The mechanism of headaches associated with pituitary adenoma still requires clarification.

Supportive treatment to chemotherapy with MMC, in patients with ocular surface squamous neoplasia or conjunctival melanocytic tumor.

PURPOSE: Since there is a lack of clear information regarding the benefit to combine supportive therapies (such as artificial tears) to mitomycin C (MMC) in the treatment of ocular surface neoplasia, the primary purpose of the study was to evaluate hyaluronic acid eye drops and hyaluronic acid-conjugated lactobionic acid (LACTOyal FREE) eye drops as supportive therapy. METHODS: Retrospective evaluation of patients with ocular surface squamous neoplasia or conjunctival melanocytic tumor treated with MMC, who had used also artificial tears as supportive treatment. A 6-month follow-up with evaluation of subjective and objective tests for ocular surface integrity was conducted. RESULTS: A total of 35 patients were analyzed, most of them with squamous disease (71.4%). The break-up time (BUT), Ocular Surface Disease Index (OSDI) and Schirmer test values showed a significant difference at any time point with overall population. No statistical difference was found among subgroups (Lactoyal vs No Lactoyal). CONCLUSION: The use of an ancillary therapy based on hyaluronic acid allows to improve both subjective and objective ocular parameters, reducing MMC induced adverse effects. Meantime, hyaluronic acid-conjugated lactobionic acid eye drops highlighted the same advantages with a more positive trend in OSDI results.

Bilateral papilledema associated with retinal hemorrhagic appearance as earliest sign of spinal cord tumor.

INTRODUCTION: To report a case of a 57-years-old female patient who presented with prominent bilateral proptosis and swollen disks. CASE DESCRIPTION: A 57-year-old obese patient admitted to our ophthalmic department complaining of bilateral sense of eye swelling and mild blurring vision. The anterior segment and pupillary reflex were normal on ophthalmological testing. Likewise, eye movements were preserved and she did not report diplopia in any position of gaze. Dilated fundus examination revealed bilateral hemorrhagic papilledema, pre-retinal hemorrhages in both eyes, dot and blot hemorrhages in the peripheral retina. Visual acuity was 20/20 in both eyes. Routine hematological investigations revealed increased both Von Willebrand factor and ristocetin factor and LAC positivity. The lumbar puncture (LP) showed elevated cerebrospinal fluid (CSF) proteins. Magnetic resonance imaging (MRI) with contrast of brain and spinal cord showed signs of intracranial hypertension and the presence of two lesions in continuity with each other respectively located at T12-L1 and L1-L2. Radiologic features were compatible with the diagnosis of ependymoma. A surgical procedure was conducted and confirmed the diagnosis after anatomical pathology analysis. CONCLUSION: Although rare, bilateral hemorrhagic swollen disks could be an early sign of spinal cord tumors, in particular ependymomas.

Radiological and clinical findings in uveal melanoma treated by plaque interventional radiotherapy (brachytherapy): Visual atlas and literature review on response assessment.

Uveal melanoma (UM) is the most common intra-ocular tumor in Caucasian adults and may derive from melanocytes. Historically, the first therapeutic approach to treat UM has been surgical removal of the eye, with obvious consequences in terms of function, cosmesis, and psychological impact on patients. Collaborative Ocular Melanoma Study (COMS) introduced the first uniform approach to perform interventional radiotherapy (IRT - brachytherapy) procedure in a standardized way that allowed to demonstrate equivalence of IRT with enucleation in terms of overall survival. Since this milestone, several international guidelines have been issued with regard to several technical aspects of this procedure, which has become the mainstream therapy worldwide. However, nowadays, there is still a lack of consensus about the criteria to definitively assess UM response after IRT. We present a collection of paradigmatic cases treated in our institution, and then discuss in detail the latest available evidence on the topic.

[Campylobacter: a vintage pathogen to the fore].

Campylobacteriosis is caused by Gram bacteria. Most common species are C. jejuni and C. coli. Campylobacteriosis is a rare cause of sepsis, and in some European countries it is more common than salmonellosis, becoming a public health problem. We have treated a 66-year-old patient, hypertensive, ischemic cardiopathic, scheduled for coronary angiography, hospitalized with AKI, in a state of shock after some days of acute diarrhea. Because of the pathogen's seasonal nature and the patient's clinical features, in addition to common coproculture also Campylobacter has been sought, and found. Treated with volume repletion and antibiotics, within one week normal kidney functions were fully restored. He had a coronary angiography a week after being discharged from the hospital.