@article {8483, title = {Describing Kawasaki shock syndrome: results from a retrospective study and literature review.}, journal = {Clin Rheumatol}, volume = {36}, year = {2017}, month = {2017 Jan}, pages = {223-228}, abstract = {

Kawasaki shock syndrome (KSS) is a rare manifestation of Kawasaki disease (KD) characterized by systolic hypotension or clinical signs of poor perfusion. The objectives of the study are to describe the main clinical presentation, echocardiographic, and laboratory findings, as well as the treatment options and clinical outcomes of KSS patients when compared with KD patients. This is a retrospective study. All children referred to two pediatric rheumatology units from January 1, 2012, to December 31, 2014, were enrolled. Patients were divided into patients with or without KSS. We compared the two groups according to the following variables: sex, age, type of KD (classic, with less frequent manifestations, or incomplete), clinical manifestations, cardiac involvement, laboratory findings, therapy administered, response to treatment, and outcome. Eighty-four patients with KD were enrolled. Of these, five (6~\%) met the criteria for KSS. Patients with KSS had higher values of C-reactive protein (p = 0.005), lower hemoglobin levels (p = 0.003); more frequent hyponatremia (p = 0.004), hypoalbuminemia (p = 0.004), and coagulopathy (p = 0.003); and increase in cardiac troponins (p = 0.000). Among the KSS patients, three had a coronary artery involvement, but none developed a permanent aneurysm. Intravenous immunoglobulin resistance was more frequent in the KSS group, although not significantly so (3/5, 60~\% vs. 23/79, 30~\%, P = NS). None of the five cases was fatal, and all recovered without sequelae. KSS patients are more likely to have higher rates of cardiac involvement. However, most cardiovascular abnormalities resolved promptly with therapy.

}, keywords = {C-Reactive Protein, Child, Child, Preschool, Echocardiography, Female, Heart Failure, Hemoglobins, Humans, Immunoglobulins, Intravenous, Male, Mucocutaneous Lymph Node Syndrome, Retrospective Studies, Shock, Syndrome}, issn = {1434-9949}, doi = {10.1007/s10067-016-3316-8}, author = {Taddio, Andrea and Rossi, Eleonora Dei and Monasta, Lorenzo and Pastore, Serena and Tommasini, Alberto and Lepore, Loredana and Bronzetti, Gabriele and Marrani, Edoardo and Mottolese, Biancamaria D{\textquoteright}Agata and Simonini, Gabriele and Cimaz, Rolando and Ventura, Alessandro} } @article {8523, title = {Decline in Lung Function in Childhood Asthma.}, journal = {N Engl J Med}, volume = {375}, year = {2016}, month = {2016 Aug 18}, pages = {e13}, keywords = {Anti-Inflammatory Agents, Asthma, Female, Humans, Lung, Male}, issn = {1533-4406}, doi = {10.1056/NEJMc1608228$\#$SA2}, author = {Bibalo, Cristina and Longo, Giorgio and Ventura, Alessandro} } @article {8329, title = {Differential expression of GAS5 in rapamycin-induced reversion of glucocorticoid resistance.}, journal = {Clin Exp Pharmacol Physiol}, volume = {43}, year = {2016}, month = {2016 Jun}, pages = {602-5}, abstract = {

This study evaluates the association between the long noncoding RNA GAS5 levels and the anti-proliferative effect of the glucocorticoid (GC) methylprednisolone (MP) alone and in combination with rapamycin in peripheral blood mononuclear cells (PBMCs) obtained from healthy donors. The effect of MP, rapamycin, and MP plus rapamycin was determined in 17 healthy donors by labelling metabolically active cells with [methyl-3H] thymidine and the expression levels of GAS5 gene were evaluated by real-time RT-PCR TaqMan analysis. We confirmed a role for GAS5 in modulating GC response: poor responders presented higher levels of GAS5 in comparison with good responders. Interestingly, when PBMCs were treated with the combination of rapamycin plus MP, the high levels of GAS5 observed for each drug in the MP poor responders group decreased in comparison with rapamycin (P value~=~0.0134) or MP alone (P value~=~0.0193). GAS5 is involved in GC resistance and co-treatment of rapamycin with GCs restores GC effectiveness in poor responders through the downregulation of the long noncoding RNA. GAS5 could be considered a biomarker to personalize therapy and a novel therapeutic target useful for the development of new pharmacological approaches to restore GC sensitivity.

}, issn = {1440-1681}, doi = {10.1111/1440-1681.12572}, author = {Lucaf{\`o}, Marianna and Bravin, Vanessa and Tommasini, Alberto and Martelossi, Stefano and Rabach, Ingrid and Ventura, Alessandro and Decorti, Giuliana and De Iudicibus, Sara} } @article {7780, title = {Different presentations of mevalonate kinase deficiency: a case series.}, journal = {Clin Exp Rheumatol}, volume = {33}, year = {2015}, month = {2015 May-Jun}, pages = {437-42}, abstract = {

OBJECTIVES: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition.

METHODS: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series.

RESULTS: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised.

CONCLUSIONS: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.

}, keywords = {Age Factors, Bacterial Infections, Child, Child, Preschool, Diagnosis, Differential, Diagnostic Errors, Female, Genetic Predisposition to Disease, Humans, Infant, Inflammatory Bowel Diseases, Male, Mevalonate Kinase Deficiency, Phenotype, Predictive Value of Tests, Recurrence, Risk Factors, Sepsis, Vasculitis, Young Adult}, issn = {0392-856X}, author = {De Pieri, Carlo and Taddio, Andrea and Insalaco, Antonella and Barbi, Egidio and Lepore, Loredana and Ventura, Alessandro and Tommasini, Alberto} } @article {3619, title = {Dysplastic bone marrow changes during maintenance therapy for acute leukemia.}, journal = {J Pediatr Hematol Oncol}, volume = {37}, year = {2015}, month = {2015 Mar}, pages = {156-7}, abstract = {

We describe the case of an 8-year-old girl with common precursor B-cell acute lymphoblastic leukemia who presented with severe pancytopenia during maintenance therapy with methotrexate and 6-mercaptopurine. The bone marrow smear showed moderate hypocellularity and trilinear dysplastic changes consistent with a diagnosis of drug toxicity, with no evidence of lymphoblasts. Flow cytometric immunophenotyping was negative for leukemic cells. Blood cell counts normalized after treatment with folinic acid. Maintenance therapy was gradually restarted and she remained well at follow-up visits. Myelotoxicity from methotrexate and 6-mercaptopurine may represent an unpredictable incident during an otherwise uneventful maintenance therapy, and may occur independently of other organ toxicities.

}, keywords = {6-Mercaptopurine, Antineoplastic Combined Chemotherapy Protocols, Bone Marrow Diseases, Child, Disease Management, Female, Follow-Up Studies, Humans, Methotrexate, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Prognosis}, issn = {1536-3678}, doi = {10.1097/MPH.0000000000000295}, author = {Chinello, Matteo and Naviglio, Samuele and Shardlow, Alison and Severino, Alessandro and Ventura, Alessandro and Locasciulli, Anna} } @article {3564, title = {Diagnostic accuracy of ultrasonography for hand bony fractures in paediatric patients.}, journal = {Arch Dis Child}, volume = {99}, year = {2014}, month = {2014 Dec}, pages = {1087-90}, abstract = {

OBJECTIVE: Hand fractures are common in childhood, and radiography is the standard diagnostic procedure. US has been used to evaluate bone injuries, mainly in adults for long-bone trauma; there are only a few studies about hand fractures in children. The purpose of this study was to evaluate and confirm the safety and applicability of the US diagnostic procedure in comparison to X-ray diagnosis.

STUDY DESIGN: This cross-sectional study involved a convenience sample of young patients (between 2 and 17 years old) who were taken to the emergency department due to hand trauma. After clinical assessment, patients with a suspected hand fracture first underwent X-ray, and subsequently US examination by two different operators; a radiologist experienced in US and a trained emergency physician in "double-blind" fashion. US and radiographic findings were then compared, and sensitivity as well as specificity was calculated.

RESULTS: A total of 204 patients were enrolled in the study. Seventy-nine fractures of phalanges or metacarpals were detected by standard radiography. When US imaging was performed by an expert radiologist, 72 fractures were detected with sensitivity and a specificity of 91.1\% and 97.6\%, respectively. Sensitivity and specificity were found to be (respectively) 91.5\% and 96.8\% when US was performed by the ED physicians.

CONCLUSIONS: US imaging showed excellent sensitivity and specificity results in the diagnosis of hand fractures in children. The study also showed a great agreement between the results of the US carried out by the senior radiologist and those carried out by the paediatric emergency physician, suggesting that US can be performed by an ED physician, allowing a rapid and accurate evaluation in ED and could become the first diagnostic approach whenever a hand fracture is suspected.

}, keywords = {Adolescent, Child, Child, Preschool, Cross-Sectional Studies, Double-Blind Method, Emergency Service, Hospital, Female, Fractures, Bone, Hand Bones, Humans, Italy, Male, Sensitivity and Specificity}, issn = {1468-2044}, doi = {10.1136/archdischild-2013-305678}, author = {Neri, Elena and Barbi, Egidio and Rabach, Ingrid and Zanchi, Chiara and Norbedo, Stefania and Ronfani, Luca and Guastalla, Veronica and Ventura, Alessandro and Guastalla, Pierpaolo} } @article {1861, title = {Dealing with abdominal pain in children affected by systemic lupus erythematosus.}, journal = {Semin Arthritis Rheum}, volume = {41}, year = {2012}, month = {2012 Feb}, pages = {e3-4}, keywords = {Abdominal Pain, Female, Humans, Lupus Erythematosus, Systemic, Male}, issn = {1532-866X}, doi = {10.1016/j.semarthrit.2011.05.002}, author = {Taddio, Andrea and Ros{\'e}, Carlos and Lepore, Loredana and Ventura, Alessandro} } @article {1785, title = {Delayed diagnosis of glycogen storage disease type III.}, journal = {J Pediatr Gastroenterol Nutr}, volume = {54}, year = {2012}, month = {2012 Jan}, pages = {122-4}, keywords = {Delayed Diagnosis, Diagnostic Errors, Glycogen Storage Disease Type I, Glycogen Storage Disease Type III, Humans, Infant, Liver, Male}, issn = {1536-4801}, doi = {10.1097/MPG.0b013e318228d806}, author = {Minen, Federico and Cont, Gabriele and De Cunto, Angela and Martelossi, Stefano and Ventura, Alessandro and Maggiore, Giuseppe and Faletra, Flavio and Gasparini, Paolo and Cassandrini, Denise} } @article {1935, title = {The dietary paradox in food allergy: yesterday{\textquoteright}s mistakes, today{\textquoteright}s evidence and lessons for tomorrow.}, journal = {Curr Pharm Des}, volume = {18}, year = {2012}, month = {2012}, pages = {5782-7}, abstract = {

During the last decades the prevalence of food allergy has significantly increased among children and antigen avoidance still remains the standard care for the management of this condition. Most reactions are IgE-mediated with a high risk of anaphylaxis requiring emergency medications in case of inadvertent ingestion. Recent studies showed that continuous administration of the offending food, rather than an elimination diet, could promote the development and maintenance of oral tolerance. Indeed, intestinal transit of food proteins and their interaction with gut-associated lymphoid tissue (GALT) is the essential prerequisite for oral tolerance. On the contrary, low-dose cutaneous exposure to environmental foods in children with atopic dermatitis and altered skin barrier facilitates allergic sensitization. The timing and the amount of cutaneous and oral exposure determine whether a child will have allergy or tolerance. Furthermore, previous preventive strategies such as the elimination diet during pregnancy and breastfeeding, prolonged exclusive breastfeeding and delayed weaning to solid foods did not succeed in preventing the development of food allergy. On the other hand, there could be an early narrow window of immunological opportunity to expose children to allergenic foods and induce natural tolerance. Finally, the gradual exposure to the offending food through special protocols of specific oral tolerance induction (SOTI) may be a promising approach to a proactive treatment of food allergy.

}, keywords = {Anaphylaxis, Antigens, Breast Feeding, Child, Dermatitis, Atopic, Female, Food Hypersensitivity, Humans, Immunoglobulin E, Pregnancy, Time Factors}, issn = {1873-4286}, author = {Badina, Laura and Barbi, Egidio and Berti, Irene and Radillo, Oriano and Matarazzo, Lorenza and Ventura, Alessandro and Longo, Giorgio} } @article {1673, title = {Decreased cholesterol levels reflect a consumption of anti-inflammatory isoprenoids associated with an impaired control of inflammation in a mouse model of mevalonate kinase deficiency.}, journal = {Inflamm Res}, volume = {59}, year = {2010}, month = {2010 May}, pages = {335-8}, abstract = {

OBJECTIVE: The aim of this study was to evaluate, in a mouse model of mevalonate kinase deficiency (MKD), the possible link between inflammatory symptoms and serum cholesterol levels.

MATERIALS AND METHODS: Balb/c mice were treated with alendronate and bacterial muramyl dipeptide. Body temperature, interleukin-1 beta (IL-1 beta) secretion and serum cholesterol levels were measured.

RESULTS: An increased production of the pro-inflammatory cytokine IL-1 beta (p < 0.05) and a rise in body temperature (p < 0.05) was observed, while, in parallel, serum cholesterol concentration significantly decreased (p < 0.05). These effects were completely reversed when animals were treated with exogenous isoprenoids.

CONCLUSIONS: In the mouse model of MKD, the inflammatory response is associated with a reduction in cholesterol levels, and hence this parameter could be used as an indicator of isoprenoid consumption. In addition, plant derived isoprenoids could represent candidate treatments for this disease.

}, keywords = {Animals, Anti-Inflammatory Agents, Cholesterol, Disease Models, Animal, Inflammation, Interleukin-1beta, Male, Mevalonate Kinase Deficiency, Mice, Mice, Inbred BALB C, Random Allocation, Terpenes}, issn = {1420-908X}, doi = {10.1007/s00011-010-0168-6}, author = {Marcuzzi, Annalisa and Decorti, Giuliana and Pontillo, Alessandra and Ventura, Alessandro and Tommasini, Alberto} }