Adult-onset Still's disease: analysis of a monocentric cohort of patients.

OBJECTIVE: Adult-onset Still's disease (AOSD) is a multigenic autoinflammatory disease with a severe systemic involvement. Because of the rarity of the disease, most published cohorts are multicentric. The aim of this report is to describe a monocentric cohort of AOSD patients, reporting clinical features and response to therapy in a long follow-up. METHOD: Thirty-eight patients, attending the Clinical Immunology Unit and fulfilling Yamaguchi, Fautrel, or Daghor-Abbaci classification criteria for AOSD, were recruited for this study. In all patients, clinical and serological data were collected at diagnosis and every 6 months thereafter. The Pouchot score was calculated at every visit. RESULTS: Fever, arthromyalgia, and skin rash were the most frequent manifestations, followed by lymphadenopathy, sore throat, arthritis, splenomegaly, hepatic involvement, pleuropericarditis, and weight loss. As far as the disease course is concerned, 25% presented a monocyclic and 35% a polycyclic pattern, and 40% developed chronic articular involvement. Severe complications were observed at disease onset in 21% of the patients. All of the patients were treated with steroids; 74% also received conventional synthetic disease-modifying anti-rheumatic drugs (methotrexate in most cases) and 71% biological disease-modifying anti-rheumatic drugs (interleukin-1 inhibitors in most cases). Therapeutic switching for lack/loss of efficacy or adverse drug reactions was necessary in 66%. CONCLUSION: The analysis of this cohort confirms that AOSD is a complex, severe, and heterogeneous disease. However, despite long-term treatment and comorbidities, therapies are effective and well tolerated. The therapeutic armamentarium now available allows long-lasting remission with low immunosuppression to be achieved in most patients.

Manufacturing, installation, commissioning, and first results with the 3D low-temperature co-fired ceramic high-frequency magnetic sensors on the Tokamak à Configuration Variable.

Innovative high-frequency magnetic sensors have been designed and manufactured in-house for installation on the Tokamak à Configuration Variable (TCV), which are now routinely operational during the TCV experimental campaigns. These sensors combine the Low Temperature Co-fired Ceramic (LTCC) and the classical thick-film technologies and are in various aspects similar to the majority of the in-vessel inductive magnetic sensors foreseen for ITER (around 450 out of the 505 currently being procured are of the LTCC-1D type). The TCV LTCC-3D magnetic sensors provide measurements in the frequency range up to 1 MHz of the perturbations to the wall-aligned toroidal (δBTOR), vertical (δBVER), and radial (δBRAD) magnetic field components. Knowledge of the equilibrium at the last closed flux-surface allows us to then obtain the field-aligned parallel (δBPAR ∼ δBTOR), poloidal (δBPOL), and normal (δBNOR) components, the latter being in most cases rather different from the vertical and radial components, respectively. The main design principles were aimed at increasing the effective area and reducing the self-inductance of the sensor in each of the three measurement axes, which are centered at the same position on each sensor, while reducing the mutual and parasitic coupling between them by optimizing the on-board wiring. The physics requirements are set by the installation of two high-power/high-energy neutral beam injection systems on TCV, i.e., studying fast ions physics, coherent instabilities, and turbulence in the (super-)Alfvénic frequency range. In this paper, we report the manufacturing, installation, and commissioning work for these high-frequency LTCC-3D magnetic sensors and conclude with an overview of illustrative experimental results obtained with this system. The LTCC-3D data provide new insights into the δBPOL coherent (eigenmodes, up to ∼400 kHz) and in-coherent background turbulent fluctuations in the higher frequency range up to ∼1 MHz, which were not previously available with the TCV Mirnov sensors. Furthermore, the LTCC-3D δBPOL measurements allow us to cross-check the data obtained with the standard Mirnov coils and have led to the identification of largeelectromagnetic (EM) noise pick-up for the Mirnov data acquisition (DAQ). When the sources of EM noise pick-up on the Mirnov DAQ are removed, the LTCC-3D data for δBPOL are in good overall agreement, i.e., within the expected measurement uncertainties, with those obtained with the standard Mirnov sensors located at the same poloidal position in the frequency range where the respective data acquisition overlap, routinely up to 125 kHz and up to 250 kHz in some discharges. The LTCC-3D δBPAR measurements (not previously available in TCV or elsewhere) provide evidence that certain instabilities have a finite parallel δB at the wall, hence at the LCFS, consistent with the recent theoretical results for pressure-driven modes. The LTCC-3D δBNOR measurements improve significantly on the corresponding measurements with the saddle loops, which are mounted onto the wall and have a bandwidth of ∼3 kHz (due to the wall penetration time). A detailed end-to-end system modeling tool has been developed and applied to test on the simulated data the actual measurement capabilities of this new diagnostic system and obtain the ensuing estimates of the intrinsic measurement uncertainties. A detailed error analysis is then performed so that, finally, fully calibrated, absolute measurements of the frequency-dependent amplitude and spectral breaks of coherent eigenmodes and in-coherent broadband magnetic fluctuations are provided for the first time in physical units with quantitative uncertainties.

The role of heavy metals and polychlorinated biphenyls (PCBs) in the oncogenesis of head and neck tumors and thyroid diseases: a pilot study.

Previous literature has highlighted the mechanisms of molecular toxicity induced by substances such as arsenic, cadmium, chromium, nickel, lead, barium and PCBs. The research was carried out on 20 volunteers, all the patients gave their consent to the research: the aim of the study was to evaluate the presence of metals and PCBs in these different matrices (blood and hair), correlating the biochemical data to pathological conditions present, and also to the area in which patients resided. Various quantitative determinations were carried out on samples of blood and hair for 14 heavy metals and on blood samples for 12 PCBs. For the 11 patients the results indicated that blood levels for half of the 14 displayed heavy metals measured considerably higher compared to the reference values, whilst the levels measured in hair evidenced some positive values significantly higher than the maximum reference. Of the 12 PCBs assayed in blood some showed higher positive values compared to the maximum tabular reference (although there is no clear reference quantified in the WHO-2005 report). In the 9 healthy patients heavy metals in the blood were within the expected target range, with those showing positive results (≤ 3 out of 14 heavy metals for each patient) having values only slightly higher than the reference maximum. The levels of 14 heavy metals measured in hair were below thresholds, and levels for the 12 PCBs measured in blood showed negativity or positivity with values close to the minimum benchmarks. The analyses carried out on biological matrices have uncovered important and significant differences between healthy and unhealthy subjects, both qualitative and quantitative differences with respect to heavy metals and PCBs. All patients with head and neck cancer enlisted for the study had heavy metal and PCB blood levels at least twice the maximum reference level. The levels of heavy metals in hair were at least double the maximum reference. In contrast, all healthy volunteers enrolled showed no significant levels for either metals or PCBs.

Nasotracheal prolonged safe extubation in acute respiratory failure post-thyroidectomy: An efficacious technique to avoid tracheotomy? A retrospective analysis of a large case series.

BACKGROUND: Acute respiratory failure is a rare life threatening complication following thyroid surgery and its incidence is reported as high as 0.9%. Clinical presentation of severe acute respiratory failure is characterized by dyspnea, inspiratory airways distress, hypoxia and its standard current management is the orotracheal intubation and safe extubation. In case of persistent distress, tracheotomy is mandatory. The Authors, analysing a large acute respiratory failure clinical series, describe an innovative treatment of this severe condition: the nasotracheal prolonged safe extubation. METHODS: Patients treated at our Intensive Care Unit for acute respiratory failure following thyroid surgery from January 2004 to December 2013, were reviewed. Demographic data including gender, age, clinical presentation, laryngoscopic findings, management and outcome during a 24-months follow-up after treatment were collected and evaluated. Moreover, the strategy for prolonged nasotracheal safe extubation was carefully described. RESULTS: Nineteen out of the 2853 patients scheduled for thyroid surgery (0.66%) at our University Hospital, developed post-operative acute respiratory failure. All of them were treated by nasotracheal prolonged safe extubation. The success rate in avoiding highly invasive treatment was of 84.2%, since only 3 patients needed definitive tracheotomy (15.7%). CONCLUSIONS: In our series, the prolonged safe extubation reduced the almost totality of expected tracheotomies in patients with acute respiratory failure following thyroid surgery (84.2%), demonstrating its feasibility and efficacy. It was a well tolerated and minimal invasive procedure that allowed a good respiratory ability and a fast clinical resolution of the laryngeal functional impairment.

Unintentional recurrent laryngeal nerve injuries following thyroidectomy: Is it the surgeon who pays the bill?

BACKGROUND: Thyroidectomy is one of the most common intervention in general surgery and, after the turn of the century, its rate has sharply increased, along with a worldwide increased incidence of differentiated thyroid cancers. Therefore, injuries of the recurrent laryngeal nerve have become one of the most frequent cause of surgical malpractice claims, mostly following surgery for benign pathology. MAIN BODY: Even if the incidence of definitive paralysis is generally lower than 3%, during the last 20 years in Italy, the number of claims for damages has sharply raised. As a consequence, a lot of defensive medicine has been caused by this issue, and a witch-hunt has been accordingly triggered, so determining mostly a painful and lasting frustration for the surgeons, who sometimes are compelled to pay a lot of money for increasing insurance premiums and lawyers fees. Recurrent laryngeal nerve injury should be considered as a potentially catastrophic predictable but not preventable event, rather than the result of a surgical mistake. CONCLUSION: Purposes of the Authors are analyzing incidence, conditions of risk, and mechanisms of recurrent laryngeal nerve injuries, underlining notes of surgical technique and defining medical practice recommendations useful to reduce the risk of malpractice lawsuits and judgments against surgeons.

Mucoepidermoid carcinoma of the base of tongue.

Mucoepidermoid carcinoma (MEC) is the most common malignant, locally-invasive tumour of the salivary glands, and accounts for approximately 35% of all malignancies of the major and minor salivary gland. Minor salivary glands are scattered in different areas of the oral cavity such as palate, retromolar area, floor of the mouth, buccal mucosa, lips and tongue. MECs of tongue base are not common. We present a rare case of MEC localised at the tongue base in a 42-year-old Caucasian woman and discuss the histopathological types, management and review the literature. Adequate intra-oral excision was the treatment of choice in this case and in low-grade MEC. Prognosis of MEC is a function of the histological grade, adequacy of excision and clinical staging.

Treatment of horizontal canal benign paroxysmal positional vertigo: a new rehabilitation technique.

The aim of this study was to evaluate the effectiveness of a new technical variant applied to the Gufoni's manoeuvre, in the treatment of horizontal canal benign paroxysmal positional vertigo (HSC-BPPV). 87 patients with BPPV of HSC (55 women and 32 men), aged between 21 and 80 years, were randomized either to modified Gufoni's manoeuvre or to the Gufoni's manoeuvre. 93% of patients treated with modified Gufoni's manoeuvre was cured after the first treatment session, of which only 2% had a conversion into PSC-BPPV, while the Gufoni's manoeuvre led to a symptoms resolution in 88% of cases, of which 16% had a conversion into PSC-BPPV. Therefore, the modified Gufoni's manoeuvre shows the same effectiveness in the resolution of symptoms of Gufoni's manoeuvre, but it appears more effective than the latter to reduce the percentage of conversion of the HSC-BPPV into PSC-BPPV (χ(2) = 6.13, P = 0.047).

OPN/CD44v6 overexpression in laryngeal dysplasia and correlation with clinical outcome.

Laryngeal dysplasia is a common clinical concern. Despite major advancements, a significant number of patients with this condition progress to invasive squamous cell carcinoma. Osteopontin (OPN) is a secreted glycoprotein, whose expression is markedly elevated in several types of cancers. We explored OPN as a candidate biomarker for laryngeal dysplasia. To this aim, we examined OPN expression in 82 cases of dysplasia and in hyperplastic and normal tissue samples. OPN expression was elevated in all severe dysplasia samples, but not hyperplastic samples, with respect to matched normal mucosa. OPN expression levels correlated positively with degree of dysplasia (P=0.0094) and negatively with disease-free survival (P<0.0001). OPN expression was paralleled by cell surface reactivity for CD44v6, an OPN functional receptor. CD44v6 expression correlated negatively with disease-free survival, as well (P=0.0007). Taken as a whole, our finding identify OPN and CD44v6 as predictive markers of recurrence or aggressiveness in laryngeal intraepithelial neoplasia, and overall, point out an important signalling complex in the evolution of laryngeal dysplasia.

Progressive myoclonic ataxia with intrathecal immune activation in six patients.

In six patients with slowly progressive sporadic cerebellar ataxia and cortical multifocal action myoclonus, cerebrospinal fluid (CSF) IgG index was persistently very high (1.2-6.7) and numerous oligoclonal bands were detected. Progressive cognitive impairment and MRI cerebellar and cerebral atrophy were observed. No serum antibodies were found. Various degenerative, metabolic, inflammatory and systemic diseases were excluded. The cerebellum may be the main target of a degenerative or immune process and releases antigens that, enhancing a compartmentalised (auto)immune response, as suggested by the persistent intrathecal activation, could lead to further cerebellar damage. As the frequency of CSF oligoclonal banding in myoclonic ataxia is unknown, our patients' disease might represent a hitherto unreported entity or a subset of progressive myoclonic ataxia.

[Description and evaluation of creative thinking in preterm low birth weight infants]. / Descrizione e valutazione del pensiero creativo in bambini pretermine con basso peso alla nascita.

AIM: Since the 1950s, the problem of how to evaluate creativity has been addressed in studies on the definition of measurement criteria and on the relationship between intelligence and creative thinking. Many revealed cognitive and relational disorders in preterm infants, particularly in preterm very low birth weight infants (birth weight <1500 g) and in infants with serious complications. This study describes the development of creative thinking in a group of children born preterm. METHODS: The study sample was 43 children (21 males, 22 females; age range 6-11 years), regularly attending school, born with low birth weight (1050-2450 g) at 29-32 weeks gestational age, and compared with a control group with birth weight >2500 g. The test battery included: Torrance Test of Creative Thinking (TCTT); WISC-R intelligence test; Goodenough Human Figure Drawing Test. RESULTS: Statistical analysis (Mann-Whitney U test) showed a statistically significant difference (P>0.05) between the 2 groups; scores for figure originality, figure fluidity and figure elaboration were consistently higher in the control group. Within the low birth weight group, there was a significant correlation (Spearman r) between verbal IQ and verbal fluidity and verbal flexibility subscale scores and between IQ performance and figure elaboration. Scores on the figure drawing tests showed higher creative ability in the control group. CONCLUSIONS: In children born preterm with low birth weight, emotive dynamics and flow of affection may influence the channels of communication between child and family. The low figure originality subscale scores support the hypothesis that psychodynamic and relational factors (worry about the preterm condition, overprotective behaviour by parents and others) could lead to diminished autonomy, flexibility and manipulatory interest in the child.

Risk behaviours among young people. Evaluation and descriptive analysis.

AIM: Risk behaviours--as they are defined by specialist literature for the damage these behaviours cause to young people's health and/or life--are getting more and more frequent among young people. They range from self-injuring behaviours to the consequences of a precocious, high-risk and/or promiscuous sexual activity, from abnormal eating behaviours to the deaths from fun. METHODS: The inquiry concerned a group of university students (100 males and 100 females), selected at random from the Faculties of Medicine and Surgery, Psychology, Economy and Jurisprudence of the University of Palermo, who were asked to answer a questionnaire composed of 91 questions and structured in 4 sections. The first section regards associate-identifying information; the second one inquires on experiences and requirements concerning sexuality; the third section explores the state of health and the use of drugs and alcohol; the fourth section looks into relations with others. RESULTS: The analysis of our data revealed that young people have different high-risk behaviours (use of drugs and alcohol, non protected sexual intercourse, carelessness for one's and one's partner's serological state); this is associated to poor information, as complained by the people interviewed, on the prevention of sexually transmissible diseases, use of drugs and alcohol. CONCLUSIONS: The conclusion is drawn that the new modalities of the assumption of risk by young people would correspond to the climate of vagueness, lack of limits, meanings and values which characterize the present society.

Vitamin E intake and quality of life in amyotrophic lateral sclerosis patients: a follow-up case series study.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder involving both upper and lower motor neurons, leading inexorably to death within a few years. Although our understanding of the pathogenesis of this disease has grown at a very fast rate in recent years, we do not yet have effective treatment options that can positively impact the quality of life (QoL) of these patients. Interestingly, increasing experimental evidence suggests that oxidative stress is involved in the pathogenesis of ALS and that vitamin E could reduce neuronal damage. Hence, in this observational study we determined the QoL in 33 ALS patients taking or not taking vitamin E supplementation (600 mg/day), using the Italian version of the Short-Form 36-Item Health Survey (SF-36). No differences were seen between the two groups of patients, therefore we do not recommend routine use of vitamin E in ALS patients, at least in the absence of randomised clinical trials specifically designed for addressing this issue.

Prevention of chemotherapy-induced menopause by temporary ovarian suppression with goserelin in young, early breast cancer patients.

BACKGROUND: Standard methods to prevent chemotherapy-induced early menopause in young, breast cancer patients are unavailable to date. Preclinical data has suggested that luteinising hormone-releasing hormone (LH-RH) analogs given during treatment can decrease the gonado-toxicity induced by chemotherapy. This phase II study aimed to assess the activity of such a method in young, breast cancer patients undergoing adjuvant chemotherapy. PATIENTS AND METHODS: Premenopausal patients received the LH-RH analog goserelin 3.6 mg every 4 weeks before and during chemotherapy. According to two-stage optimal phase II Simon design, treatment was considered clinically interesting if it was able to prevent menopause in 19 out of 29 patients of the study population. The resumption of ovarian function was defined by a resumption of menstrual activity or by a follicle-stimulating hormone (FSH) value < or = 40 IU/l within 12 months after the last cycle of chemotherapy. RESULTS: Thirty patients were enrolled and 29 were evaluable. Median age was 38 years (range 29-47). All but one patient received CEF regimen (cyclophosphamide, epirubicin, 5-fluorouracil). Resumption of menstrual activity was observed in 21 patients (72%; 95% CI 52% to 87%) and a FSH value < or = 40 IU/l in 24 patients (83%; 95% CI 63% to 93%). Menses resumption was observed in 16 out of 17 patients (94%) with age <40 years and in five out of 12 patients (42%) with age > or = 40 years. CONCLUSION: Goserelin given before and during chemotherapy may prevent premature menopause in the majority of patients. The different success rate by age, however, indicates the need of a prospective evidence of the efficacy of such a strategy.

Outcome assessment in patients with chronic obstructive rhinitis CO2 laser treated.

Surgical lasers have been used to restore nasal flow in chronic obstructive rhinitis, with a significant improvement in symptoms having been reported in almost all cases. However, evidence supporting the efficacy at long-term, and studies on the assessment of quality of life remain limited. In the present study, efficacy at long term and improvement in the quality of life were assessed in patients with chronic obstructive rhinitis, treated with CO2 laser. A total of 308 patients with chronic obstructive rhinitis were enrolled. The primary outcome measure assessed was the change in score regarding specific and general symptoms, between baseline to 2-4.5 and 7.8 mean years follow-up. Laser turbinotomy restored nasal flow and induced a change in total score which was statistically significant, for specific and general symptoms at the first, second and third follow-up, p < 0.01. CO2 laser turbinate surgery improved symptoms and quality of life in patients with chronic obstructive rhinitis as observed at 2-4.5 and 7.8 mean years follow-up.

[The quality of life in developing age subjects with chronic renal diseases]. / La qualitá della vita in soggetti in etá evolutiva affetti da patologie renali croniche.

AIM: Renal pathologies have an hard impact on ill children's life style, psychic and physical development. In the last years, even if medical cures allowed these children to live longer and to have a better quality of life, today both their families and themselves have to face a lot of difficulties due to the kind of pathology. These children show behaviour troubles, bad sociability, aggressiveness, poor school performance, anxiety and depression, and then the subjects with chronic renal failure show a retard in neurological and cognitive development. In this study we evaluated the impact that the chronic renal illness has on children and adolescents' quality life. METHODS: For this study, we have used the Impact of Childhood Illness Scale. It includes 30 questions that value 4 aspects of the child and family's life style: illness and its treatment, impact on the child, impact on parents and impact on the family. For every question, it considers the frequency of the problem and the degree of the worry that it causes. We gave the questionnaire to 47 couples of parents' children who are suffering from chronic renal diseases (19 subjects with nephrotic syndrome, 7 with chronic glomerulenephritis, 10 with chronic renal failure, 5 dialysed, 6 with kidney transplant). All parents compiled the questionnaire. RESULTS: The obtained results showed that developing age subjects, who are affected by chronic renal diseases, can have emotional and behavioural difficulties that have an effect on subject and on his family. Their parents live in a continuous stress state because chronic pain and anxiety cause depression, a sense of inadequacy and frustration. CONCLUSIONS: As in every chronic physical illness, the sick child and his family are obliged to face a series of physical, behavioural and emotional changes. Besides, they are faced by possible collateral effects of the illness and of its treatments on development.

[New addictions in the third millennium: anabolic steroids as a substance of abuse]. / Nuove dipendenze del terzo millennio: l'utilizzo di steroidi anabolizzanti come sostanza d'abuso.

AIM: The abuse of anabolic steroids is emerging as a psychosocially significant issue. In the last few years the use of the substances has shifted from professional sports to amateur sports and certain occupations (bouncers, models, etc.). In the literature, steroid users are portrayed as multidrug users who engage in dangerous and aggressive behavior towards themselves and others. This study looks into the habits, lifestyles and psychological profiles of a group of subjects who make regular use of sports centres in the city of Palermo, Italy, with the aim of establishing how the abuse of anabolic substances is associated with a specific lifestyle and particular psychosocial behaviour. METHODS: A revision of the American Massachusetts Youth Risk Survey questionnaire (1993), adapted for the Italian context, and a personality assessment scale, The Adjective Check List (1980), were administered to a group of 71 subjects. RESULTS: Fifteen of these subjects admitted taking steroids with differing frequencies. Using Spearman's rho rank correlation, repeated use of anabolic steroids was found to be correlated with abuse of other types of drugs, risk behavior and a distinct personality pattern. Steroid abuse was found to be significantly correlated (r = 0.35, 0.31, 0.30, 0.28, P < 0.01) with illegal drug use (LSD, cocaine and heroin). CONCLUSIONS: It is therefore imperative to develop studies and analyses to investigate more thoroughly the phenomenon and its related psychological and social context in order to lay the foundations for a targeted prevention programme, especially in countries such as Italy where this type of drug abuse is still largely unrecognised and risks degenerating into a new, full-blown social disease.

Submandibular gland myoepithelioma.

Benign myoepithelioma is a very rare form of salivary gland tumor, composed entirely of myoepithelial cells. It accounts for approximately 1% of all salivary gland tumors and is most frequently located in the parotid gland and in the minor salivary glands of the hard palate. We describe herein the ninth reported case of myoepithelioma of the submandibular gland. Benign myoepithelioma must be differentiated from several benign and malignant epithelial and mesenchymal tumors. Immunohistochemical staining can help differentiate between these conditions, but histopathology remains the gold standard for diagnosing this neoplastic process.

Monitoring Alfvén cascades with interferometry on the JET Tokamak.

A microwave interferometry technique is applied for the first time for detecting a discrete spectrum of Alfvén cascade (AC) eigenmodes excited with fast ions in reversed magnetic shear plasmas of the Joint European Torus. The interferometry measurements of plasma density perturbations associated with ACs show an unprecedented frequency and time resolution superior to that obtained with external magnetic coils. The measurements of ACs are used for monitoring the evolution of the safety factor and density of rational magnetic surfaces in the region of maximum plasma current.