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We report three Caucasian patients affected by gout and type 2 diabetes, who were treated with the recombinant nonglycosylated human interleukin-1 receptor antagonist anakinra (100 mg/day subcutaneously) after an unsatisfactory or incomplete response to urate-lowering therapy, colchicine, nonsteroidal anti-inflammatory drugs, and prednisone. The remarkable clinical improvement in joint symptoms within 24 h and in glycemic control during a 6-month period gives anakinra a potential therapeutic role in the management of gout and type 2 diabetes. When anakinra was discontinued, a gout attack occurred within 3–25 days in all three patients. The contribution of anakinra in the treatment of such syndromes is encouraging, but requires further studies to establish its long-term efficacy.

The report deals with the disease course of Italian children with juvenile idiopathic arthritis treated with etanercept and shows the preliminary results in over one thousand patients.

The paper deals with the association between vitamin D receptor polymorphisms and juvenile idiopathic arthritis.

A peculiar coexistence of axial spondyloarthritis and ischemia of the feet and the fourth finger of the left hand in a young woman, who was a heavy smoker, is discussed in this report. This picture was considered within the context of thromboangiitis obliterans. Positivity of anti-nuclear antibodies and mild elevation of inflammatory parameters were noted. Computed tomography angiograms of upper and lower limbs showed luminal narrowing and occlusion of the left humeral, left anterior/posterior tibial and right anterior tibial arteries. Daily iloprost perfusions were started, and smoking cessation was strongly recommended. Coldness and rest pain in the distal extremities improved within a few weeks. The possibility that spondyloarthritis might precede the clinical picture of thromboangiitis obliterans should be considered in heavy smokers.

The frequency and distribution of acute intoxications and poisoning from non-pharmacological substances in children was evaluated in this observational-descriptive study. This was done by analyzing all admissions to the Emergency Room of our University in Rome during the period 1st January 2001 to 31st December 2012. We found 249 patients aged 0-14 years: 147 males and 102 females. The highest incidence occurred in the first 4 years of life: 44.2% in the 1-2 year age-group. Cases were mostly related to solvents (44.6%), natural products (17.7%), agricultural products (12.9%), corrosive acids and alkaline caustics (14.8%). Most admissions occurred during the time slot 18: 00 to 21: 00 (23.7%). No clinical symptoms were observed in 116 children (46.6% of the total), and physical examination was unrevealing. The remaining 133 displayed nausea/vomiting (22%) and pharyngeal hyperemia (18.8%). Laboratory tests and imaging studies were only performed in selected cases. In terms of consulting requests, the Poisons Center was contacted 156 times (62.6% of cases), the Pediatric Intensive Care Unit 38 times (15.2%), and the surgeon-endoscopist 18 times (7.2%). A short period of observation and monitoring in the Emergency Room was warranted in 106 children (42.5%). Gastroprotective drugs were used in 75 cases (30.1%) and activated charcoal in 18 (7.2%). Nintey-five children (38.2%) were admitted to the pediatric department, but no complications occurred. Targeted information programs in schools and during pediatric check-ups should decrease the risk of ingestion of non-pharmacological substances in children, and the costs of its management.

The paper reports on the experience with anakinra in a case of resistant Behçet's disease uveitis.

Hereditary autoinflammatory disorders encompass manifold dysfunctions of innate immunity caused by mutations in genes coding for the main characters of the inflammatory scene: most of these conditions have an early onset, ranging from the first days of life to the first decades, and include hereditary periodic fevers, NLRP-related diseases, granulomatous and pyogenic syndromes, which are basically characterized by upturned inflammasome activity and overproduction of bioactive interleukin (IL)-1 beta and other proinflammatory cytokines. The discovery of a causative link between autoinflammation and IL-1 beta release has improved our understanding of the intimate mechanisms of innate immunity, and has likewise led to the identification of extraordinary treatments for many of these disorders.

Background: Rheumatic diseases in children are associated with significant morbidity and poor health-related quality of life (HRQOL). There is no health-related quality of life (HRQOL) scale available specifically for children with less common rheumatic diseases. These diseases share several features with systemic lupus erythematosus (SLE) such as their chronic episodic nature, multi-systemic involvement, and the need for immunosuppressive medications. HRQOL scale developed for pediatric SLE will likely be applicable to children with systemic inflammatory diseases. Findings: We adapted Simple Measure of Impact of Lupus Erythematosus in Youngsters (SMILEY) to Simple Measure of Impact of Illness in Youngsters (SMILY-Illness) and had it reviewed by pediatric rheumatologists for its appropriateness and cultural suitability. We tested SMILY-Illness in patients with inflammatory rheumatic diseases and then translated it into 28 languages. Conclusion: SMILY-Illness is a brief, easy to administer and score HRQOL scale for children with systemic rheumatic diseases. It is suitable for use across different age groups and literacy levels. SMILY-Illness with its available translations may be used as useful adjuncts to clinical practice and research.

Il concetto di “autoinfiammazione” fu delineato oltre un decennio fa per individuare la caratteristica saliente di un gruppo di condizioni cliniche caratterizzate da episodi di infiammazione sistemica non scatenata da agenti esterni di natura infettiva o da meccanismi autoimmuni. In un attacco autonfiammatorio si assiste ad una dismissione incontrollata di citochine, molecole-segnale che regolano aspetti molteplici della comunicazione intercellulare: le interazioni tra citochine e cellule immuni è fondamentale per il corretto funzionamento del sistema immunitario, inclusa la risposta ai patogeni ed alle cellule estranee, nonché la tolleranza al self. Le “malattie autoinfiammatorie” sono un gruppo di affezioni ereditarie o acquisite che coinvolgono l’immunità innata e si caratterizzano per la ricorrenza di febbre e segni variabili di infiammazione che possono interessare cute, sierose, tubo gastroenterico, sistema osteo-articolare, sistema nervoso centrale, ecc.

Autoinflammatory disorders are characterized by spontaneous episodes of systemic inflammation deriving from inherited defects of the innate immune system. Childhood is usually the lifetime involved in most inherited autoinflammatory disorders, but a moderate number of patients may experience disease onset during adulthood. Herein we report our experience in the clinical and genetic approach to the diagnosis of autoinflammatory disorders in regard of the first 500 pediatric and adult patients evaluated during the period 2007-2012 in our Center, due to histories of periodically-recurring inflammatory attacks, giving emphasis to the differences observed according to patients'age and to the most relevant data differentiating child and adult-onset autoinflammatory disorders in the medical literature.

Tumour necrosis factor-receptor associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder characterised by recurrent episodes of long-lasting fever and inflammation in different regions of the body, as musculo-skeletal system, skin, gastrointestinal tube, serosal membranes and eye. Inflammatory attacks usually start in paediatric age with initial corticosteroid-responsiveness. Most reported cases of TRAPS involve patients of European ancestry and diagnosis can be formulated by the combination of genetic analysis and a compatible phenotype. Its prognosis is strictly dependent on the appearance of amyloidosis, secondary to uncontrolled relapsing inflammation. Thanks to a better understanding of its pathogenesis, the disease is now managed with anti-interleukin (IL)-1 antagonists, rather than corticosteroids or tumour necrosis factor (TNF) inhibitors. The aim of this review is to describe the current understanding and advances of TRAPS genetic basis, pathogenesis and management options by integrating the most recent data in the medical literature. © Clinical and Experimental Rheumatology 2013.

The paper deals with an international cohort of children with PFAPA syndrome.

The paper analyzes and discusses about outcome predictors in a cohort of italian children and adolescents with primary Raynaud's phenomenon.

Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists. © 2013 Francesco Caso et al.

The paper deals with fibroblast growth factor gene polymorphisms in children with Kawasaki disease.

Familial Mediterranean fever (FMF) is the most frequent hereditary autoinflammatory disease, inherited with an autosomal recessive pattern, characterized by self-limited episodes of fever and serositis, and caused by mutations in the MEFV gene, with most sequence variations corresponding to missense changes. The FMF gene encodes the pyrin protein, which is mainly expressed in myelomonocytic cells: its genotyping has greatly contributed to our actual knowledge of FMF, but final diagnosis remains predominantly clinical, since the couple of MEFV mutations cannot always be identified, as required by Mendel’s genetic laws. Even if the autosomal recessive transmission of FMF was established more than 15 years ago by familial studies, linkage analysis, and haplotype comparisons, a substantial number of patients from Mediterranean ancestry remains genetically unexplained, as they do not carry two mutated MEFV alleles. The description of disease manifestations among patients carrying a single mutated MEFV allele, even responding well to colchicine, are becoming more frequent, suggesting that other genes might be involved in the phenotypic expression of FMF.

A 7-year-old child was first admitted for persistent fever of 15-day duration and suspected meningitis. Kawasaki syndrome was lately diagnosed upon the recognition of an extensive diffuse coronary artery damage characterized by medium-sized aneurysms of the epicardial vessels. An eccentric thrombus along the inferior wall of the left anterior descending artery suspected at transthoracic echocardiography was confirmed by coronary computed tomography angiography scan, without significant segmental stenosis. Strict cardiac surveillance and anticoagulant therapy were maintained, and no ischemic complications occurred at a short-term follow-up. This report emphasizes that thrombosis can be observed even in medium-sized aneurysms when the diagnosis of Kawasaki syndrome is delayed. © Springer-Verlag 2011.

The paper describes the report of necrosis in mesenteric lymph nodes related to a child affected by IgA vasculitis.

Systemic autoinflammatory diseases are a group of inherited disorders of the innate immune system characterized by seemingly unprovoked inflammation recurring at variable intervals and involving skin, serosal membranes, joints, and gastrointestinal apparatus, with reactive amyloidosis as a possible severe long-term complication. Recent advances in genetics and molecular biology have improved our understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, and hereditary pyogenic and granulomatous disorders: the vast majority of these conditions are related to the activation of the interleukin-1 pathway, which results in (or from?) a common unifying pathogenetic mechanism. Their diagnostic identification derives from the combination of clinical data, evaluation of acute phase reactants, clinical efficacy in response to specific drugs, and recognition of specific mutations in the relevant genes, although genetic tests may be unconstructive in some cases. This review will discuss clinical and laboratory clues useful for a diagnostic approach to systemic autoinflammatory diseases. © 2012 Informa UK, Ltd.

Interventions directed to the recognition of abnormal bone mineral density, bone mineral content, and body composition in the pediatric age require the definition of factors influencing bone mass acquisition during growth. We have evaluated in a cross-sectional manner by dualenergy X-ray absorptiometry the impact of sex, age, puberty, and physical activity on total body areal bone mineral density, regional (lumbar and femoral) bone mineral densities, bone mineral content, and body composition (fat mass and lean mass) in a cohort of 359 healthy Italian children aged 3-14 years and investigated their specific contribution to bone mass accrual. Statistical multiple regression analysis was performed dividing the population in pre- and post-pubertal groups. Bone mineral density at the lumbar spine has resulted equally distributed in both sexes before puberty while has resulted higher at the femoral necks in males at whatever age. A significant effect on bone mass acquisition was exerted by male sex and lean mass. In the areas where the cortical bone is prevalent, males of the pre-pubertal group have presented the highest values; in the areas where the cancellous bone is prevalent, both sexes were equivalent until the age of 9 years, but after this age, females have presented higher increases, probably related to the inferior dimensional development of lumbar vertebrae. Conclusively, male sex and lean mass seem to represent independent predictors of bone mass accrual in the cortical bone of the examined children, while female sex and pubertal maturation are independent predictors of bone mass accrual in the trabecular bone. © Springer-Verlag 2011.

The paper deals with primary Raynaud's phenomenon in a multi-center cohort of Italian children and adolescents.

Objective: Kawasaki syndrome (KS) is an acute systemic vasculitis of unknown origin predominantly affecting young children. Early diagnosis is crucial to prevent cardiac complications. However, the differential diagnosis of patients with the incomplete or atypical form of the disease poses a heavy challenge for the paediatrician. Our aim was to evaluate the prevalence of incomplete and atypical cases among children with KS and to identify clinical and laboratory variables that may help differentiate incomplete and atypical KS from other febrile diseases at this age. Methods: We established an international registry to recruit patients with KS, including those with incomplete and atypical forms. The control group included age-matched febrile children admitted to the hospital with a variety of diseases mimicking KS. The aim was to define clinical or laboratory clues to help in the discrimination of incomplete and atypical KS patients from others. Results: Two hundred and twenty-eight patients with incomplete KS (78%) and atypical KS (22%) were compared to 71 children with other febrile diseases. Patients with incomplete and atypical KS presented a statistically significant higher frequency of mucosal changes, conjunctivitis, extremity abnormalities and perineal desquamation compared to the group of other febrile diseases. In addition, C-reactive protein and platelet counts were significantly higher in incomplete and atypical KS compared to the other group. Conclusion: This is the largest series of incomplete and atypical KS patients of non East-Asian ancestry: we suggest that in patients with the aforementioned clinical features and laboratory evidence of systemic inflammation in terms of increased C-reactive protein and platelet counts an echocardiogram should be performed and diagnosis of KS considered. © Copyright CLINICAL AND EXPERIMENTAL RHEUMATOLOGY 2012.

Most autoinflammatory disorders typically come out in the pediatric population, although a limited number of patients may experience disease onset during adulthood. To date, a late disease onset has been described only in familial Mediterranean fever, caused by mutations in the MEFV gene, and in tumor necrosis factor receptor-associated periodic syndrome, caused by mutations in the TNFRSF1A gene. The relative rarity and lack of information on adult-onset autoinflammatory diseases make it likely that mutations will be found in an even smaller percentage of cases. With the aim of improving the genetic diagnosis in adults with suspected autoinflammatory disorders, we recently identified a set of variables related to the probability of detecting gene mutations in MEFV and TNFRSFlA and, in addition, we have also proposed a diagnostic score for identifying those patients at high risk of carrying mutations in these genes. In the present study we evaluated the preliminary score sensitivity and specificity on a wider number of patients in order to validate the goodness of fit of the model. Two hundred and nineteen consecutive patients with a clinical history of periodic fever attacks were screened for mutations in MEFV and TNFRSF1A genes; detailed information about family/personal history and clinical manifestations were also collected. For the validation of the score we considered data both from the 110 patients used to build the preliminary diagnostic score and from the additional 219 patients enrolled in the present study, for a total number of 329 patients. Early age at disease onset, positive family history for recurrent fever episodes, thoracic pain, abdominal pain and skin rash, which are the variables that had previously been shown to be significantly associated with a positive genetic test result (12), were used for validation. On univariate analysis the associations with a positive genetic test were: age at onset (odds ratio [OR] 0.43, p=0.003), positive family his

The paper deals with the experience related to anti-TNF agents in the treatment of JIA-related refractory uveitis.

Autoinflammatory diseases (AID) are inherited errors of innate immunity which, although individually uncommon, collectively set up an emerging chapter of medicine. Careful analysis and identification of AID is essential to prompt effective treatment and improve survival and quality of life in these patients. Research into pediatric AID is lagging behind studies in adults, though a better understanding of AID in infancy could lead to improved diagnostic protocols and reduce long-term disability. This review provides a detailed summary of monogenic AID in childhood to help pediatricians correctly recognize these conditions and also highlight recent developments in the laboratory diagnostic work-up. © 2011 by Walter de Gruyter Berlin New York.

The paper deals with long-term follow up of children with hyper IgD syndrome in a large national collaborative study.

In Italy, the available data show that over 3 million people per year suffer accidents in the home and this number is rising. Particular attention should be given to accidents in the pediatric age, in which accidents are by far the first cause of children's death. In the general practice unintentional injury, defined as every disability which occurs under accidental circumstances, is a significant health problem in children. Even an apparently harmless device as an electric toothbrush may be a danger to a 17-month-old infant. This article describes the case of a child who sustained a penetrating injury, while brushing his teeth with an electric toothbrush. The clinical and radiological pattern of this injury derives from the peculiar characteristics of this brushing tool, which added to the penetrating injury the damage of hooking the Bichat's fat pad. © 2009 Elsevier Ireland Ltd. All rights reserved.

Capillary abnormalities upon videocapillaroscopy have been described in children with Henoch-Schonlein purpura.

Objectives: The aim of the study is to assess the rate of atypical manifestations at onset in pediatric systemic lupus erythematosus (SLE) and to evaluate their effect on disease outcome. Study design: This is a multicenter retrospective cohort study. A manifestation was considered atypical if it was not included in the American College Rheumatology classification criteria for SLE but was reported in literature as associated with SLE. Unfavorable outcome was considered presence of organ damage in the Systemic Lupus International Collaborative Clinics/American College of Rheumatology Damage Index at the last available evaluation. Results: One hundred patients were enrolled in the study; 24% presented atypical clinical features at onset. Univariate analysis showed a significant association of worse outcome variables with the presence of atypical manifestations at onset (P = .004), as well as renal involvement (P = .027). A multivariate logistic regression analysis showed that atypical manifestations at onset (P = .018), renal involvement at onset or during follow up (P = .024), and central nervous system disease involvement during follow up (P = .021) were independent predictors of poor prognosis. Conclusions: Our data support a relatively high rate of atypical onset in pediatric SLE. Presence of atypical manifestations at presentation and early kidney disease correlate with poor outcome. Similarly, during follow-up, kidney and central nervous system diseases are associated with worse outcome. © 2010 Mosby, Inc. All rights reserved.

Systemic autoinflammatory syndromes are a group of inherited and acquired disorders of the innate immunity characterized by recurrence of seemingly unprovoked febrile attacks of variable duration and multi-district inflammation of different severity. The vast majority of these conditions when observed in pediatrics is caused by mutations in genetic systems involved in the orchestration of inflammation and apoptosis. The group includes hereditary recurrent fevers, idiopathic febrile syndromes, hereditary pyogenic disorders, bone autoinflammatory diseases, immune-mediated granulomatous diseases, complement disorders, hemophagocytic and vasculitic syndromes. Diagnostic identification derives from the combination of genotype studies and clinical/bioumoral data showing the spontaneous activation of cells of the innate immunity in the absence of specific ligands, although diagnosis remains only clinical for idiopathic febrile syndromes such as systemic-onset juvenile idiopathic arthritis and PFAPA syndrome. Meeting the needs of patients with complex chronic diseases as systemic autoinflammatory syndromes requires the provision of collaborative multidisciplinary care and the expertise of a number of health care providers across varied health care settings.

Clues to predict the response to intravenous immunoglobulins (IVIG) and the development of coronary artery abnormalities (CAA) in children with Kawasaki syndrome (KS) are still undefined. We examined retrospectively the medical charts of children hospitalized between February 1990 and April 2009 with diagnosis of KS. A total of 32 Italian patients with a mean age of 23.8 months were analyzed and all received IVIG according to two schemes: 0.4 g/(kg day) for 5 days or 2 g/kg in a single infusion, combined with oral acetylsalicylic acid. General, clinical and laboratory data were registered. Each patient was evaluated with echocardiography at admission, then with 3-day and weekly frequency, respectively, during hospital stay and for the first 6-8 weeks since onset, and finally with a regular 6-12 month follow-up over time, according to patient risk stratification. Five patients showing significantly higher values of C-reactive protein (CRP) at admission were IVIG-resistant after the first infusion (P = 0.04) in comparison with the remaining 27. Five patients out of 32 developed CAA, with no statistical significance when analyzed for IVIG dosage or IVIG-resis-tance. The demonstration of CAA was significantly higher in children aged<12 months (P = 0.037). Our experience, limited to a single-center cohort of 32 patients with KS, though treated with two different IVIG schemes, has shown that higher values of CRP and younger age at onset are nodal points in determining, respectively, a failure in the response to IVIG and an increased occurrence of CAA. © Springer-Verlag 2010.

The paper deals with the association of midazolam and lidocaine for pediatric sedation in the intensive care unit.

The paper describes and discusses about bone health as a primary target in the pediatric age.

A thorough discussion about bone health in the pediatric population is herein reported.

The aim of this study is to describe by video-nailfold capillaroscopy the microvascular involvement and capillary changes in children with Henoch-Schönlein purpura (HSp) and to establish a possible correlation with clinical outcome. Thirty-one patients underwent capillaroscopic evaluation through a videomicroscope during the acute phase and after 6 months. Twenty sex/age-matched controls were also examined. All capillaroscopic variables were statistically examined in combination with laboratoristic/clinical data. Architectural and morphological changes recorded during the acute phase were statistically significant in comparison to the controls (p < 0.01). At the follow-up, oedema was still observed in all patients, whereas, morphological changes only in two. There was a no significant correlation between capillaroscopy changes, laboratoristic/clinical data, and outcome. Video-nailfold capillaroscopy can be a simple tool to evaluate microvascular abnormalities in the acute phase of HSp, and the persistence of oedema could suggest an incomplete disease resolution at a microvascular level.

We report three patients who initially showed prolonged fever, lung parenchymal consolidation and laboratory findings of pneumonia, and secondarily presented a clinical picture ascribed to Kawasaki syndrome. Two of these children developed coronary artery dilations, which regressed upon echocardiography after 12 months. In the case of infants showing broncho-pulmonary abnormalities with slow resolution, active inflammatory parameters and high fever persistence, pediatricians should consider atypical Kawasaki syndrome as a possible alternative diagnosis. © 2008 Springer-Verlag.

We report a 7-year-old boy who unexpectedly developed a multi-drug resistant epilepsy with negative neuroimaging results, followed by the insidious appearance of linear localized scleroderma involving the right leg. When the boy was 16 and severely affected by epileptic encephalopathy, we have evaluated this case for the first time: his localized scleroderma had reached the right buttock and positive anti-nuclear antibody was the only positive laboratory test. Methotrexate administered for 12 months was ineffective in improving both the organization of his electroencephalographic pattern and seizure control, though seemed to stabilize the progression of linear scleroderma. This report suggests that neurological abnormality and extracranial scleroderma might represent two own distinct processes in a same patient. © 2008 Springer-Verlag.

The aberrant induction of salivary/lacrimal proteins is considered to be crucial in the pathogenesis of sicca-symptoms related to primary Sjögren syndrome (SS). We report the case of an 11-year-old boy who was admitted to hospital due to recurrent bilateral parotid gland enlargement and keratoconjunctivitis, which were diagnosed as primary SS upon a combination of laboratory and instrumental tests. The proteomic analysis of the salivary peptide complex in the patient's salivary fluid near diagnosis and after 6 months of pharmacological therapy revealed quantitative and mostly qualitative differences. This observation reveals that clinical and functional changes of the salivary glands driven by non-steroidal antinflammatory drugs might be reflected in different proteomic patterns of the salivary fluid. © 2008 Springer-Verlag.

The paper deals with long-term follow up of pediatric patients with CINCA syndrome trated with anakinra.

We report two children with autoinflammatory syndromes treated with anakinra who came in contact with the varicella-zoster virus after being exposed accidentally to infected children: both cases were managed prophylactically with specific antichickenpox intravenous immunoglobulins and anakinra temporary suspension; neither adverse events nor complications related to the natural course of chickenpox were experienced by the two patients. The risk of developing infectious events should be closely monitored, because of the absence of data concerning long-term safety of biological agents in the pediatric age, and prevention strategies should be highly encouraged before they are started. © 2007 Springer-Verlag.

Henoch-Schönlein purpura (HSP), the commonest vasculitis in children, occurs most frequently between the ages of 4 and 6 years. We report the case of a 3-year-old boy with an otomastoiditis who was treated with cephalosporin and corticosteroids following a typical purpuric skin rash diagnosed as HSP. The patient also developed an acute occurrence of impairment of the glans, prepuce and penis 4 days after recovery that completely disappeared after a further 2 days, with the cutaneous rash subsiding on discharge from hospital. © 2007 Taylor & Francis.

Objectives: To examine the association of the -173 single-nucleotide G/C polymorphism of the macrophage migration inhibitory factor gene (MIF) and serum macrophage migration inhibitory factor (MIF) concentrations in a group of Italian patients with hereditary periodic fevers (HPF), tested during a symptom-free phase of their disease. Methods: Genomic DNA for MIF and serum MIF were evaluated in 22 patients with HPF and compared with healthy controls of the same ethnic group. The MIF-173G/C polymorphism was genotyped using polymerase chain reaction (PCR) and visualized by ethidium bromide staining. Serum MIF levels were measured by enzyme-linked immunosorbent assay (ELISA). Results: MIF-173*C allele frequency and MIF serum concentrations were significantly higher in patients with HPF than in controls, with no statistically significant difference between familial Mediterranean fever (FMF) and hyperimmunoglobulinaemia D/periodic fever syndrome (HIDS) and no correlation with specific MIF genotypes. Conclusions: The MIF-173*C allele was found more frequently in patients with HPF than in controls and MIF serum concentrations were considerably elevated in attack-free phases, suggesting a persistent state of subclinical cytokine activation with MIF involvement in the autoinflammatory cascade. © 2007 Taylor & Francis on license from Scandinavian Rheumatology Research Foundation.

Unilateral cervical mass and fever were firstly misdiagnosed as bacterial lymphadenitis in a 6-year-old child and empirically treated with antibiotics. Later the child developed the additional features of Kawasaki syndrome and received intravenous immunoglobulins at the eighth day since fever onset with progressive disappearance of the cervical mass and no cardiac sequel. Kawasaki syndrome should be considered in childhood as a relevant cause of cervical lymphadenopathy unresponding to antibiotics: its recognition at an early stage might contribute to anticipate a proper treatment and abate heart complication rate. © 2007 Springer-Verlag.

Objective. To evaluate the prevalence of monosymptomatic nocturnal enuresis (MNE) in a group of children and adolescents prior to the onset of type 1 diabetes (Dt1). Material and methods. We considered 88 patients with Dt1 with a mean age of 15.2 years over a period of 3 years. All patients were investigated by means of a questionnaire about the occurrence of MNE prior to the onset of Dt1. Each patient had normal urinalysis results, with no glycosuria, a normal urinary flow rate and no day-time symptoms such as urge incontinence or urgency. Results. We found that 24/88 patients (27.2%) were bedwetters before the onset of Dt1. After beginning insulin treatment, 7/24 bedwetters (29.2%) kept presenting MNE. In total, 7 of the initial 88 patients (7.9%) displayed persistent features of MNE. Conclusions. The occurrence of MNE may overlap with symptoms of Dt1 but requires specific medical attention as a separate entity due to its possible persistence even when Dt1 has been controlled by insulin treatment. © 2006 Taylor & Francis.

Hyperimmunoglobulinemia D/periodic fever syndrome is caused by recessively inherited mutations in the mevalonate kinase gene and is characterized by persistently high polyclonal serum IgD titre and recurrent febrile attacks. No conventional therapy exists for preventing the typical recurrent inflammatory picture of patients. A host of studies have evidenced that elevated levels of various cytokines, such as interleukin-1 (IL-1), mark febrile attacks in this disease and that IL-1 might represent a suitable therapeutic target. We describe the case of a 7-year-old female-child with an established diagnosis of hyperimmunoglobulinemia D/periodic fever syndrome in whom anakinra, IL-1 receptor antagonist, was daily administered at the dosage of 1 mg/kg/day by subcutaneous injection for 18 months after numerous disappointing attempts with non-steroidal anti-inflammatory drugs, steroids, colchicine and etanercept through the years. The clinical response under anakinra treatment was recorded through a standardized diary, whilst inflammation parameters were serially measured in comparison with the half-year before starting anakinra. Frequency and severity of fever attacks were totally reduced by anakinra and this is the first child demonstrating that symptoms of hyperimmunoglobulinemia D/periodic fever syndrome might be at least extenuated by anakinra, though not abolished. © 2006 Springer-Verlag.

Early-onset osteoporosis with high bone turnover is presented for pediatric patients affected by mucopolysaccharidosis type IV or Morquio-Brailsford syndrome