Familial Mediterranean Fever: An unusual cause of liver disease

Background Familial Mediterranean Fever is an autoinflammatory disease typically expressed with recurrent attacks of fever, serositis, aphthous stomatitis, rash. Only a few reports describe the association with hepatic involvement. Case presentation We describe the clinical case of a child affected, since the age of 1 year, by recurrent fever, aphthous stomatitis, rash, arthralgia, associated with abdominal pain, vomiting, lymphadenopathy. The diagnosis of Familial Mediterranean Fever was confirmed by the genetic study of MEFV gene; the homozygous mutation M694 V in exon was documented. A partial control of attacks was obtained with colchicine. The child continued to manifest only recurrent episodes of abdominal pain without fever, however serum amyloid A persisted high, in association with enhanced levels of CRP, AST and ALT (1.5 x n.v.). The dosage of colchicine was increased step by step and the patient achieved a better control of symptoms and biochemical parameters. However, the patient frequently needed an increase in the dose of colchicine, suggesting the possible usefulness of anti-interleukin-1 beta treatment. Conclusions The unusual presentation of Familial Mediterranean Fever with liver disease suggests the role of inflammasome in hepatic inflammation. Colchicine controls systemic inflammation in most of the patients; however, subclinical inflammation can persist in some of them and can manifest with increased levels of CRP, ESR, serum amyloid A also in attack-free intervals

Fifteen years in the high-energy life of the solar-type star HD 81809. XMM-Newton observations of a stellar activity cycle

Aims. The data set of the long-term XMM-Newton monitoring program of HD 81809 is analyzed to study its X-ray cycle, to investigate if the latter is related to the chromospheric one, to infer the structure of the corona of HD 81809, and to explore if the coronal activity of HD 81809 can be ascribed to phenomena similar to the solar ones and, therefore, considered an extension of the solar case. Methods. We analyze the observations of HD 81809 performed with XMM-Newton with a regular cadence of 6 months from 2001 to 2016 and representing one of the longest available observational baseline ($\sim 15$~yr) for a solar-like star with a well-studied chromospheric cycle (with a period of $\sim 8$~yr). We investigate the modulation of coronal luminosity and temperature and its relation with the chromospheric cycle. We interpret the data in terms of a mixture of solar-like coronal regions, adopting a methodology originally proposed to study the Sun as an X-ray star. Results. The observations show a well-defined regular cyclic modulation of the X-ray luminosity that reflects the activity level of HD 81809. The data covers approximately two cycles of coronal activity; the modulation has an amplitude of a factor of $\sim 5$ (excluding evident flares, as in the June 2002 observation) and a period of $7.3\pm 1.5$~yr, consistent with that of the chromospheric cycle. We demonstrate that the corona of HD 81809 can be interpreted as an extension of the solar case and it can be modeled with a mixture of solar-like coronal regions along the whole cycle. The activity level is mainly determined by a varying coverage of very bright active regions, similar to cores of active regions observed in the Sun. Evidence of unresolved significant flaring activity is present especially in proximity of cycle maxima.Comment: 11 pages, 5 Figures, A&A accepte

Kawasaki disease triggered by EBV virus in a child with Familial Mediterranean Fever

Familial Mediterranean Fever is a monogenic autoinflammatory disease, secondary to mutation of MEFV gene, and typically expressed with recurrent attacks of fever, serositis, rash, aphthous changes in lips and/or oral mucosa. Kawasaki Disease, an acute systemic vasculitis with persistent fever (5 or more days), rash, stomatitis, conjunctivitis, lymphadenopathy, changes in extremities, is currently considered a multifactorial autoinflammatory disease. An infection, as Epstein Barr virus, can be the trigger of Kawasaki Disease

Kawasaki disease in Sicily: clinical description and markers of disease severity

Background: Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. Methods: We studied the clinical data of 70 KD Sicilian children (36 males: 51 %; 34 females: 49 %), analysed retrospectively, including: demographic and laboratory parameters; echocardiographic findings at diagnosis, at 2, 6 and 8 weeks, and at 1 year after the onset of the illness. Results: Forty-seven had Typical KD, three Atypical KD and twenty Incomplete KD. Age at the disease onset ranged from 0.1 to 8.9 years. IVIG were administered 5 \ub1 2 days after the fever started. Defervescence occurred 39 \ub1 26 hours after the first IVIG infusion. Fifty-six patients (80 %) received 1 dose of IVIG (responders); 14 patients (20 %) had a resistant KD, with persistent fever after the first IVIG dose (non responders). Ten (14 %) non responders responded to the second dose, 4 (5 %) responded to three doses; one needed treatment with high doses of steroids and Infliximab. Cardiac involvement was documented in twenty-two cases (eighteen with transient dilatation/ectasia, fifteen with aneurysms). Pericardial effusion, documented in eleven, was associated with coronaritis and aneurysms, and was present earlier than coronary involvement in seven. Hypoalbuminemia, D-dimer pre-IVIG, gamma-GT pre-IVIG showed a statistically significant direct correlation with IVIG doses, highlighting the role of these parameters as predictor markers of refractory disease. The persistence of elevated CRP, AST, ALT levels, a persistent hyponatremia and hypoalbuminemia after IVIG therapy, also had a statistical significant correlation with IVIG doses. Non responders showed higher levels of D-dimer and gamma-GT pre-IVIG, persistent high levels of D-dimer, CRP, AST, ALT, hypoalbuminemia and hyponatremia after IVIG. Conclusions: This is the first study on KD in Sicily. We suggest some laboratory parameters as predictive criteria for resistant KD. Patients who show early pericarditis need careful surveillance for coronary lesions

Systemic lupus erythematosus and bullous pemphigoid with dramatic response to dapsone

Objective: Unusual clinical course Background: Bullous pemphigoid is an autoimmune blistering disease, with relapses, isolated or associated with other autoimmune diseases such as systemic lupus erythematosus (SLE). Joint manifestations rapidly respond to small or moderate doses of corticosteroids, whereas skin manifestations usually respond to antimalarial drugs. Case Report: We describe the clinical case of an 11-year-old girl with SLE. She showed bullous skin lesions with arthralgia, mild proteinuria, resolved after steroid treatment. At the tapering of her prednisone dose, the patient had new skin lesions requiring an increased dose of prednisone. She started dapsone at the dosage of 1 mg/kg/day, maintaining low dose prednisone; this treatment was successfully followed by the dramatic disappearance of skin lesions and limb pain. Conclusions: Bullous skin lesions can represent the first clinical presentation of pediatric SLE and could influence the treatment and the outcome of these patients. This case showed an atypical course as both skin manifestations and arthritis promptly and persistently resolved with dapsone without the use of high-dose glucocorticoids. Only a few cases of patients with SLE associated with bullous pemphigoid have been reported in the literature, and very few in the pediatric population

INTEGRATED SURVEY AND SMART NAVIGATION OF COMPLEX TERRITORIAL MODELS

Abstract. The study examines the numerous medieval fortified sites that are in ruins throughout the Sicilian territory. Their landscape and historical value is significant, but they are unfortunately abandoned, not in stable conditions and often no metrically reliable graphic representation exists.The methodology we chose required a combined 3D survey campaign and data processing aimed at obtaining 2D and 3D drawings, as well as a virtual reality application to provide knowledge and virtual fruition of the sites.The entire experimental procedure was optimised to provide multi-scalar readings of the sites under investigation, that include their details, the location, territory, and landscape.The article presents the results of a case study carried out on the Maletto Castle in Sicily (Italy)

AACVD synthesis of catalytic gold nanoparticle-modified cerium(IV) oxide thin films

Co-deposition of Ce(dbm)4 and NH4AuCl4 precursors in acetone at 500 °C via AACVD results in deposition of crystalline CeO2 thin films containing/decorated with metallic gold. These particles are estimated to be ∼ 70 nm in size via optical methods. Preliminary testing of catalytic activity showed the materials were surprisingly catalytically active given the very small amounts of gold present and the large estimated particle size, although the presence of smaller catalytically active particles could not be discounted

Article ultrasound-guided funicular block: Ropivacaine injection into the tissue around the spermatic cord to improve analgesia during orchiectomy in dogs

Orchiectomy is a common surgical procedure performed on small animals, and it requires postoperative pain management despite its relative simplicity. This study aimed to evaluate the hemodynamic stability, intraoperative administration of additional hypnotic and/or analgesic drugs, and postoperative pain scores following the combination of ultrasound-guided injection of ropiva-caine hydrochloride into the spermatic cord and infiltration by the same anaesthetic of the incisional prescrotal line (ROP) or general anaesthesia. Dogs in the ROP group showed greater intraoperative hemodynamic stability and lower pain scores than the control group. The locoregional approach used in this study proved effective in minimising the responses to the surgical stimulus and ensured ade-quate analgesia intra-and postoperatively. This method, called ultrasound-guided funicular block, allows orchiectomy to be performed under deep sedation without general anaesthesia

Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

Introduction: Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentation: We hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of Sicily. The first patient is a male child, born from the first pregnancy of healthy consanguineous Sicilian parents. A novel SCNN1A (sodium channel epithelial subunit alpha) gene mutation, inherited from both heterozygous parents, was identified by next generation sequencing (NGS) in the homozygous child (and later, also in the heterozygous maternal aunt). A more detailed family history disclosed a possible related twenty-year-old girl, belonging to the same Sicilian small town, with referred neonatal salt loss syndrome associated to hyperkalemia, and subsequent normal growth and neurodevelopment. This second patient had a PHA1 clinical diagnosis when she was about 1 year old. The genetic investigation was, then, extended to her and to her family, revealing the same mutation in the homozygous girl and in the heterozygous parents. Conclusions: The neonatologist should consider PHA1 diagnosis in newborns showing hyponatremia, hyperkalemia and metabolic acidosis, after the exclusion of a salting-loss form of adrenogenital syndrome. The increased plasmatic levels of aldosterone and aldosterone/renin ratio, associated to a poor response to steroid administration, confirmed the diagnosis in the first present patient. An accurate family history may be decisive to identify the clinical picture. A multidisciplinary approach and close follow-up evaluations are requested, in view of optimal management, adequate growth and development of patients. Next generation sequencing (NGS) techniques allowed the identification of the SCNN1A gene mutation either in both patients or in other heterozygous family members, enabling also primary prevention of disease. Our report may broaden the knowledge of the genetic and molecular bases of PHA1, improving its clinical characterization and providing useful indications for the treatment of patients. Clinical approach must be personalized, also in relation to long-term survival and potential multiorgan complications