PROMs in post-mastectomy care: Patient self-reports (BREAST-Q™) as a powerful instrument to personalize medical services.

One of the goals of immediate breast reconstruction (IBR) is to satisfy the patient's outcome. Recent studies therefore tended to focus on the patient's perception of the care and on the impact on quality of life using patients-reported-outcome-measures (PROMs), able to measure the health status directly without the clinician's interposition. We present a preliminary prospective study on 333 patients who underwent mastectomy with IBR in a two-year period, in a single Italian centre, using a dedicated PROMs, the BREAST-Q™, to determine the patient's satisfaction. We studied two groups of IBR: Group A (two-step with tissue-expander) and Group B (one-step: prosthesis/mesh) and conducted a pre- and post-operative comparison for each group to evaluate score-gain over time, and a group-score comparison to determine whether differences were significant between reconstruction types. Two-hundred-and-nine were actually enrolled and 132 completed all the questionnaires. The response rate was 62.8% and the compliance rate (completion of all the questionnaires) was 63.1%. In both groups all the analyzed domains worsened comparing the pre and post-operative period; the differences were statistically significant only for physical and sexual-wellbeing. In the comparison between the two groups, none of the detected differences reached the statistical significance. According to our experience, we can state that PROMs could improve the health concept redefining the variables to be monitored even if data is still insufficient to draw any definitive conclusion. PROMs can help surgeons and patients decide the most appropriate surgery for a particular patient-profile and to identify those who require further support.

Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature.

PURPOSE: Secretory breast cancer (SBC) is one of the rarest breast cancer (BC), representing the majority of BC in childhood. Nevertheless, it elicits a lot of interest both for the peculiar morphology and the characteristic genetic features. Currently, there is no consensus on optimal treatment strategy. Therefore, it is useful to report every case in order to establish treatment algorithms. METHODS: We describe the case of a 6-year-old boy diagnosed with a SBC, with peculiar genomic and immunohistochemical features. Moreover, we carried out a review of the literature in order to analyze the present state of knowledge about this rare entity. RESULTS: To the best of our knowledge, there are only 120 cases published in literature, only 32 in males and only 2 younger than 6 years. Furthermore, this one had peculiar genomic and immunohistochemical features. Indeed, even if SBC expresses basal-cell markers, our patient had a triple-negative tumor expressing both basal and luminal cell markers. Furthermore, the boy's genomic profile revealed not only positivity for the typical SBC's translocation t(12;15), but also for a 3q28 duplication, found in his father (healthy) and paternal grandfather (with a previous BC). None were positive for BRCA mutation. This locus includes only one gene encoding for a growth factor recently linked to Early Infantile Epileptic Encephalopathy-47 and Idiopathic ventricular tachycardia. Even if the literature does not provide evidence of a pathogenic role it is not possible to exclude a cancer-predisposing activity. CONCLUSIONS: SBC is a rare type of BC, characterized by triple-negative features with an unexpectedly good prognosis. More data are needed to fully understand the behavior of this cancer and genomic profiling could be helpful in improving its diagnosis and management.

mRECIST criteria to assess recurrent thyroid carcinoma treatment response after radiofrequency ablation: a prospective study.

PURPOSE: Surgical removal is recommended for recurrent thyroid carcinomas (RTCs) unable to uptake radioiodine and/or not responsive to chemotherapy. However, repeated neck dissection is difficult for surgeons. Thus, radiofrequency ablation (RFA) was proposed for RTCs. The aim of this prospective study is to assess RTC treatment response after RFA, according to well-established criteria. METHODS: Sixteen lesions in 13 patients were treated by RFA. All patients refused/were excluded from repeated surgery or other conventional therapy. CT and US examinations were performed before RFA to evaluate lesion volume and vascularization. All RFA procedures were performed under US-guidance by an 18-gauge, electrode. Treatment response was evaluated by CT, according to RECIST 1.1 and to mRECIST guidelines; CT examinations were performed during follow-up (6-18 months); the volume of residual vital tumour tissue and the percentage of necrotic tissue were estimated by contrast enhanced CT. RESULTS: RFA was well tolerated by all patients; in two cases laryngeal nerve paralysis was observed. Mean pre-treatment volume was 4.18 ± 3.53 ml. Vital tumour tissue and percentage of necrosis at 6, 12 and 18 months were 0.18 ± 0.25, 0.11 ± 0.13, 0.29 ± 0.40 ml and 91.9 ± 11.1, 90.4 ± 13.3, 80.8 ± 23.1%. According to RECIST 1.1, target lesion response was classified as complete response (CR) in one case, partial response (PR) in 11/16, stable disease in 4/16 cases. According to mRECIST, 11/16 cases were classified as CR and the remaining 5 as PR. CONCLUSION: RFA is a safe procedure to treat the viable tumour tissue and to reduce the RTC volume; as to the criteria to assess treatment response, mRECIST appears to be more accurate.

Role of perfusion CT in the evaluation of metastatic nodal tumor response after radiochemotherapy in head and neck cancer: preliminary findings.

OBJECTIVE: To assess changes of CT perfusion parameters (ΔPCTp) of cervical lymph node metastases from head and neck cancer (HNC) before and after radiochemotherapy (RT-CT) and their association with nodal tumor persistence. PATIENTS AND METHODS: Eligibility criteria included HNC (Stage III-IV) candidates for RT-CT. Patients underwent perfusion CT (PCT) at baseline 3 weeks and 3 months after RT-CT. Blood volume (BV), blood flow (BF), mean transit time (MTT) and permeability surface (PS) were calculated. PET/CT examination was also performed at baseline and 3 months after treatment for metabolic assessment. RESULTS: Between July 2012 and May 2016, 27 patients were evaluated. Overall, only 3 patients (11%) experienced tumor persistence in the largest metastatic lymph node. A significant reduction of all PCTp values (p<0.0001), except MTT (from 6.3 to 5.7 s; p=0.089), was observed at 3 weeks post-RT-CT compared to baseline. All PCTp values including MTT were significantly lower at 3-month follow-up compared to baseline (p<0.05). Moreover, a statistically significant association was observed between nodal tumor persistence and high BF values (p=0.045) at 3 months after treatment that did not occur for the other parameters. CONCLUSIONS: Our preliminary findings show that all PCTp except MTT are significantly reduced after RT-CT. High BF values at 3 months post-RT-CT are predictive of nodal tumor persistence.

A New Natural Antioxidant Mixture Protects against Oxidative and DNA Damage in Endothelial Cell Exposed to Low-Dose Irradiation.

Exposure to ionizing radiation during diagnostic procedures increases systemic oxidative stress and predisposes to higher risk of cancer and cardiovascular disease development. Many studies indicated that antioxidants protect against radiation-induced damage and have high efficacy and lack of toxicity in preventing radiation exposure damages. The purpose of this study was to investigate the in vitro protective effect of a new antioxidant mixture, named RiduROS, on oxidative stress generation and DNA double-strand breaks (DSBs) induced by low doses of X-rays in endothelial cells. Human umbilical vein endothelial cells (HUVEC) were treated with RiduROS mixture 24 h before a single exposure to X-rays at an absorbed dose of 0.25 Gy. The production of reactive oxygen species (ROS) was evaluated by fluorescent dye staining and nitric oxide (NO) by the Griess reaction, and DSBs were evaluated as number of γ-H2AX foci. We demonstrated that antioxidant mixture reduced oxidative stress induced by low dose of X-ray irradiation and that RiduROS pretreatment is more effective in protecting against radiation-induced oxidative stress than single antioxidants. Moreover, RiduROS mixture is able to reduce γ-H2AX foci formation after low-dose X-ray exposure. The texted mixture of antioxidants significantly reduced oxidative stress and γ-H2AX foci formation in endothelial cells exposed to low-dose irradiation. These results suggest that RiduROS could have a role as an effective radioprotectant against low-dose damaging effects.

Atlas occipitalisation associated with other anomalies in a 16th century skeleton from Sardinia (Italy).

Archaeological excavations carried out in the plague cemetery of 16th century Alghero (Sardinia) brought to light the skeleton of a male aged 35-45 years, showing anomalies of the atlas. A macroscopic and radiological study has been carried out. The first cervical vertebra is fused with the skull base, resulting in an occipitalisation of the atlas. Absence of the costal element of the left foramen transversarium, resulting in an open anterior foramen transversarium, and posterior arch defect are also observed. The atlanto-occipital junction is a complex structure, susceptible to develop different patterns of congenital defects. These anatomical variations of atlas should be considered in modern clinical practice in order to formulate a correct diagnosis and to conceive an appropriate treatment. Osteoarchaeological cases are important as, beside to ascertain the presence of congenital defects in past populations, allow an in-depth study in dry bones, which can help modern medicine in interpreting anatomical variations. We present an association of congenital anomalies of the atlanto-occipital junction, a condition rarely documented in ancient and modern human skeletal remains.

How does radiotherapy impact swallowing function in nasopharynx and oropharynx cancer? Short-term results of a prospective study.

The objective of this study is to report the initial results of a prospective trial assessing instrumental deglutition function in nasopharynx and oropharynx cancers after radio or chemoradiotherapy using intensity-modulated radiotherapy (IMRT). IMRT was delivered aiming to spare the swallowing organ at risk (SWOARs) for Stage II-IV naso- and oropharynx cancer. Objective instrumental assessment included videofluoroscopy (VFS), fiberoptic endoscopic evaluation of swallowing (FEES) and oro-pharyngeal-oesophageal scintigraphy (OPES) at baseline and at 1 month after radiotherapy. Dysphagia parameter scores were calculated at each exam after liquid (L) and semi-liquid (SL) bolus intake: pre-deglutition penetration, aspiration, pharyngeal transit time (PTT) and hypopharyngeal retention index (HPRI). Overall, 20 patients (6 nasophaynx and 14 oropharynx) completed treatment and instrumental assessment after 1 month. Comparison between pre- and post-treatment HPRI score values showed a significant worsening in both FEES-L (p = 0.021) and SL (p = 0.02) and at VFS-L (p = 0.008) and SL (p = 0.005). Moreover, a relationship between HPRI worsening at FEES-L and FEES-SL (p = 0.005) as well as at VFS-L and VFS-SL (p < 0.001) was observed. PTT was not significantly affected by radiotherapy (p > 0.2). Only a few patients experienced pre-deglutition penetration (1 patient with base of tongue cancer at FEES-L and SL) and aspiration (1 patient with nasopharynx cancer at OPES-L and FEES-SL) after radiotherapy. Our early results showed that IMRT-SWOARs sparing caused a significant increase in the post-deglutition HPRI score. Longer follow-up will be necessary to evaluate if the increase of HPRI is related to a high risk of developing late aspiration.

Assessment of radiation protection awareness and knowledge about radiological examination doses among Italian radiographers.

OBJECTIVES: To evaluate radiation protection basic knowledge and dose assessment for radiological procedures among Italian radiographers METHODS: A validated questionnaire was distributed to 780 participants with balanced demographic characteristics and geographic distribution. RESULTS: Only 12.1 % of participants attended radiation protection courses on a regular basis. Despite 90 % of radiographers stating to have sufficient awareness of radiation protection issues, most of them underestimated the radiation dose of almost all radiological procedures. About 5 % and 4 % of the participants, respectively, claimed that pelvis magnetic resonance imaging and abdominal ultrasound exposed patients to radiation. On the contrary, 7.0 % of the radiographers stated that mammography does not use ionising radiation. About half of participants believed that radiation-induced cancer is not dependent on age or gender and were not able to differentiate between deterministic and stochastic effects. Young radiographers (with less than 3 years of experience) showed a higher level of knowledge compared with the more experienced radiographers. CONCLUSIONS: There is a substantial need for radiographers to improve their awareness of radiation protection issues and their knowledge of radiological procedures. Specific actions such as regular training courses for both undergraduate and postgraduate students as well as for working radiographers must be considered in order to assure patient safety during radiological examinations. MAIN MESSAGES: • Radiographers should improve their knowledge on radiation protection issues. • Only 12.1 % of participants attended radiation protection courses on a regular basis. • Specific actions must be considered in order to increase knowledge and awareness.

3D ultrasound centerline tracking of abdominal vessels for endovascular navigation.

PURPOSE: Vessel lumen centerline extraction is important for intraoperative tracking of abdominal vessels and guidance of endovascular instruments. Three-dimensional ultrasound has gained increasing acceptance as a safe and convenient surgical image guidance modality. We aimed to optimize vascular centerline detection and tracking in 3D ultrasound. METHOD: To overcome the intrinsic limitation of low ultrasound image quality, an active contour method (snake) was used to track changes in vessel geometry. We tested two variants of a classic snake using the image gradient and gradient vector field (GVF) as external forces. We validated these methods in liver ultrasound images of 10 healthy volunteers, acquired at three breath-holding instances during the exhalation phase. We calculated the distances between the vessel centerlines as detected by algorithms and a gold standard consisting of manual annotations performed by an expert. RESULTS: Both methods (GVF and image gradient) can accurately estimate the actual centerlines with average Euclidean distances of 0.77 and 1.24 mm for GVF and gradient, respectively. Both methods can automatically follow vessel morphology and position changes. CONCLUSIONS: The proposed approach is feasible for liver vessel centerline extraction from 3D ultrasound images. The algorithm can follow the movement of the vessels during respiration; further improvements of hardware components are needed for a real-time implementation.

Automatic carotid centerline extraction from three-dimensional ultrasound Doppler images.

Vessel lumen centerline extraction is an important issue for the intra-operative guidance of endovascular instruments; furthermore, vessel centerline is often used as a reference position in many hemodynamic studies, especially in carotid arteries. In this work we propose an innovative method for the extraction of carotid vessels centerline from three-dimensional Color Doppler ultrasound images. The method was tested on carotid Color Doppler images of eighteen healthy subjects and validated by calculating the Euclidean distances between the centerlines detected by the algorithm and those manually annotated by two experts in the corresponding original US volumes. The results show that the proposed approach can accurately estimate the actual centerline with an average error of 1.08 ± 0.54 mm. Furthermore, the method is completely automatic and therefore suitable for the aforementioned purposes.

Rhupus syndrome: assessment of its prevalence and its clinical and instrumental characteristics in a prospective cohort of 103 SLE patients.

The term "rhupus" is traditionally used to describe patients with coexistence of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). The aim of the present work was to investigate prevalence, clinical and radiological picture as well as the serological profile of a series of rhupus patients; SLE patients and RA patients from our Unit were used as disease control groups. A total of 103 consecutive SLE patients were screened; among the entire cohort, 10 patients (9.7%) were classified as "rhupus". In our rhupus patients SLE features preceded the onset of arthritis in 5 patients (50%) while in the remaining patients arthritis appeared before or simultaneously (3 and 2 patients respectively). As compared with SLE patients, rhupus patients have significantly less kidney involvement (p=0.01) while no differences were observed between neuropsychiatric, cutaneous, hematological involvement or serositis. At our physical examination, 9 (90%) rhupus patients were presenting active joint involvement; CRP positivity and ESR levels resulted significantly higher than in SLE (p=0.006) patients while no differences were observed with respect to RA patients. In all rhupus patients, at least one pathological finding was revealed by ultrasound (US) examination at wrist and/or hand joints; overall, rhupus patients presented higher scores in all the US parameters with respect to SLE patients, especially at hands; no statistically significant differences have been observed with respect to RA patients. Magnetic resonance (MR) revealed erosions in all rhupus patients with a concomitant bone edema in five patients. The cumulative erosive burden in rhupus patients was significantly higher than in SLE patients and similar to RA patients (SLE vs rhupus p=0.005); bone pathology distribution was also similar between rhupus patients and RA patients. These data suggest the importance of assessing joint involvement in SLE with advanced imaging techniques and of evaluating the presence of prognostic factors for joint disease severity in order to establish adequate disease monitoring and to institute early appropriate therapies to avoid late consequences of unrecognized concomitant rheumatoid arthritis (Amezcua-Guerra et al., 2006 [25]; Zhao et al., 2009 [26]).

Radioprotection (un)awareness in cardiologists, and how to improve it.

In 2010 the International Atomic Energy Agency launched the "3 A's campaign": Audit, Appropriateness and Awareness for radiological justification, which is an effective tool for cancer prevention. Cardiologists prescribe the majority of radiological testing, but their awareness of doses and risks of ionizing cardiac imaging test is low. To assess radioprotection awareness of prescribing and practicing physicians (mainly cardiologists) before and after a radioprotection course. We held a 1-day 6-h primer of radioprotection for a limited number (20-35) of physicians. The course offered 8 continuing education credits from the Italian Health Ministry and was held 9 times over 3 years. We had 425 attendees, but full data sets (with complete questionnaires) were available for 403 physicians (55% women, age 45 ± 6 years), including 55% cardiologists, 40% general practitioners, 5% others (mainly cardiology fellows). For each attendee, a radiological awareness score was obtained before and after the course, with a survey containing 10 multiple-choice questions (5 answers) on radioprotection basics (doses of common examinations in multiples of chest x-rays; associated cancer risk, etc.). Each answer was scored from 0 ("don't know"), 1 ("strongly disagree") to 4 ("strongly agree"). The radiological awareness score of the 403 attendees improved from 31 ± 3 (before) to 37 ± 2 (after training, P < 0.001 vs. pre-training). As an example, before training, 25% of attendees believed that radiation-induced cancer risk disappears after 6 months (10% of respondents), 12 months (8%) or 5 years (7%), whereas 75% (becoming 98% after training) correctly estimated that radiological damage is cumulative over one's lifetime. Awareness of radiological doses and risks, albeit essential for risk-benefit assessment of radiological testing, is suboptimal among cardiologists, but can dramatically improve with a limited teaching effort through targeted training.

Videourodynamics in patients with neurogenic bladder due to multiple sclerosis: our experience.

PURPOSE: The aims of this study were to: (a) analyse the most frequent morphofunctional features of the lower urinary tract observed during videourodynamic examination in patients with neurogenic bladder due to multiple sclerosis; (b) investigate the role of the videourodynamic examination in the clinical management of these patients; and (c) demonstrate the relationship between morphological and functional variables. MATERIALS AND METHODS: We performed videourodynamic examinations in 75 patients affected by neurogenic bladder secondary to multiple sclerosis. RESULTS: The introduction of pharmacological therapy, based on clinical and functional evaluation of the lower urinary tract, is correlated with satisfactory morphofunctional outcomes, reducing moderate-to-severe postvoid residual (PVR; p < 0.1) and compliance (p < 0.05) at the price of reduced bladder sensation. Clinical management of these patients based on morphological evaluation of the lower urinary tract decreased the occurrence of detrusor-sphincter dyssynergy (DSD) and detrusor overactivity incontinence at the following examination. CONCLUSIONS: Our study confirmed a relationship between detrusor overactivity and hypertonic bladder, bladder diverticula, vesicoureteral reflux, between detrusor underactivity and PVR and between DSD and bladder diverticula. Our data show how the videourodynamic examination may improve evaluation and urological management of these patients.

Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia.

Agenesis of paranasal sinuses has only been described in case reports of patients with primary ciliary dyskinesia (PCD). As agenesis of paranasal sinuses may contribute to low nasal nitric oxide levels, a common finding in PCD, we speculated that this condition might frequently occur in PCD patients. Patients referred for PCD evaluation were consecutively recruited for 30 months. In addition to standard diagnostic testing for PCD, a computed tomography (CT) scan of paranasal sinuses was performed in all subjects. 86 patients (46 children aged 8-17 yrs) were studied. PCD was diagnosed in 41 subjects and secondary ciliary dyskinesia (SCD) was diagnosed in the remaining 45 subjects. Frontal and/or sphenoidal sinuses were either aplastic or hypoplastic on CT scans in 30 (73%) out of 41 PCD patients, but in only 17 (38%) out of 45 with SCD (p = 0.002). There was a significant inverse correlation between the score for aplasia/hypoplasia of each paranasal sinus and nasal NO values in the PCD patients (p = 0.008, r = -0.432) but not in SCD (p = 0.07, r = -0.271). The findings of aplasia/hypoplasia of the frontal and or sphenoidal sinuses may be part of the spectrum of PCD and this finding should prompt exclusion of this condition.

Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication.

Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity. Here we report on a novel autosomal dominant mutation in LMNA in two direct relatives presenting with different clinical phenotypes, characterized by severe life-threatening limb-girdle muscle involvement and cardiac dysfunction treated with heart transplantation in the proband, and by ventricular tachyarrhythmias with preserved cardiac and skeletal muscle function in her young son. To our knowledge, this is the first report of a duplication in the LMNA gene. The two phenotypes described could reflect different clinical stages of the same disease. We hypothesize that early recognition and initiation of therapeutic manoeuvres in the younger patient may retard the rate of progression of the cardiomyopathy.

Rheumatoid arthritis, Klippel-Feil syndrome and Pott's disease in Cardinal Carlo de' Medici (1595-1666).

OBJECTIVE: A paleopathological study was carried out on the she skeletal remains of Cardinal Carlo de' Medici (1595-1666), son of the Grand Duke Ferdinando I (1549-1609) and Cristina from Lorraine (1565-1636), to investigate the articular pathology described in the archival sources. METHODS: The skeletal remains of Carlo, buried in the Basilica of San Lorenzo in Florence, have been exhumed and submitted to macroscopic and radiological examination. RESULTS: The skeleton of Carlo revealed a concentration of different severe pathologies. Ankylosis of the cervical column, associated with other facial and spine anomalies suggests a diagnosis of congenital disease: the Klippel-Feil syndrome. In addition, the cervical segment presents the results of the tuberculosis (Pott's disease) from which the Cardinal suffered in his infancy. The post-cranial skeleton shows an ankylosing disease, mainly symmetrical and extremely severe, involving the large as well as small articulations, and characterized by massive joint fusion, that totally disabled the Cardinal in his last years of life. CONCLUSIONS: The final diagnosis suggests an advanced, ankylosing stage of rheumatoid arthritis.

Emergency radiology without the radiologist: the forensic perspective.

PURPOSE: The aim of this paper is to describe two cases from the authors' forensic archive database in which teleradiology was related to unfavourable outcomes. MATERIAL AND METHODS: Two patients underwent autopsy after unexpected death following road accidents. In one case, death was caused by multiple cervical fractures following minor neck injury in the presence of diffuse idiopathic skeletal hyperostosis. In the other case, death was due to delayed isthmic aortic rupture occurring after thoracic blunt trauma in a young adult. Both conditions were diagnosed at autopsy only. RESULTS: In both cases, the lethal outcome was due to the failure to obtain radiological reports of the X-rays performed in the emergency department. Radiological diagnoses could have been established by activating the teleradiology service which, according to the hospitals' teleradiology protocols, is available on demand in cases of emergency only, as selected by the physician requesting the service. CONCLUSIONS: These cases suggest the high risk of excluding the radiologist from the management of patients whose images are transmitted via a teleradiology system.

A case of carotid artery resection and replacement in advanced laryngeal carcinoma.

Carotid involvement in head and neck tumours carries a poor prognosis and poses an additional challenge to patient management. Tumor fixity and high-definition imaging modalities can suggest, but not determine, carotid wall invasion, which can be proven only by perioperative observation. Conservative management offers no hope of cure or palliation. While radical tumor excision with carotid peeling or resection seems the only chance for prolonging survival, this strategy has not yet unequivocally improved short-term survival. A 74-year-old man with advanced laryngeal carcinoma presented to our unit with preoperative computed tomographic (CT) signs of neoplastic carotid involvement. Radical surgery was planned and partial hypopharyngectomy, total laryngectomy and left neck dissection were performed. Since grossly indurated tissue extended to the lateral surface of the carotid bifurcation, precluding separation from the vessel, carotid vessel resection and saphenous graft repair were carried out. At 6 months after the operation, the patient is presently alive without neurological complications and free of tumor recurrence or distant metastases. This observation supports the view that CT scanning is a valuable method for detecting malignant carotid invasion and that radical surgery, extending resection to the affected carotid segment, can prolong disease-free short-term survival in this patient group.