%0 Journal Article %J Eur J Obstet Gynecol Reprod Biol %D 2018 %T Multiple successful pregnancies in a woman with biliary atresia and native liver. %A Matarazzo, Lorenza %A Assandro, Paola %A Martelossi, Stefano %A Maggiore, Giuseppe %A Ventura, Alessandro %B Eur J Obstet Gynecol Reprod Biol %V 221 %P 194-195 %8 2018 02 %G eng %1 http://www.ncbi.nlm.nih.gov/pubmed/29279142?dopt=Abstract %R 10.1016/j.ejogrb.2017.12.010 %0 Journal Article %J Inflamm Bowel Dis %D 2015 %T Effect of Thalidomide on Clinical Remission in Children and Adolescents with Ulcerative Colitis Refractory to Other Immunosuppressives: Pilot Randomized Clinical Trial. %A Lazzerini, Marzia %A Martelossi, Stefano %A Magazzù, Giuseppe %A Pellegrino, Salvatore %A Lucanto, Maria Cristina %A Barabino, Arrigo %A Calvi, Angela %A Arrigo, Serena %A Lionetti, Paolo %A Lorusso, Monica %A Mangiantini, Francesca %A Fontana, Massimo %A Zuin, Giovanna %A Palla, Gabriella %A Maggiore, Giuseppe %A Bramuzzo, Matteo %A Pellegrin, Maria Chiara %A Maschio, Massimo %A Villanacci, Vincenzo %A Manenti, Stefania %A Decorti, Giuliana %A De Iudicibus, Sara %A Paparazzo, Rossella %A Montico, Marcella %A Ventura, Alessandro %X

BACKGROUND: In a randomized controlled trial, thalidomide has shown to be effective in refractory Crohn's disease in children. This pilot study aimed at evaluating thalidomide in refractory pediatric ulcerative colitis (UC).

METHODS: Double-blind, placebo-controlled randomized clinical trial on thalidomide 1.5 to 2.5 mg/kg/day in children with active UC despite multiple immunosuppressive treatments. In an open-label extension, nonresponders to placebo received thalidomide for an additional 8 weeks; all responders were followed up for a minimum of 52 weeks.

RESULTS: Twenty-six children with refractory UC were randomized to thalidomide or placebo. Clinical remission at week 8 was achieved by significantly more children treated with thalidomide {10/12 (83.3%) versus 2/11 (18.8%); risk ratio, 4.5 (95% confidence interval [CI], 1.2-16.4); P = 0.005; number needed to treat, 1.5}. Of the nonresponders to placebo who were switched to thalidomide, 8 of 11 (72.7%) subsequently reached remission at week 8 (risk ratio, 4.0 [95% CI, 1.1-14.7]; number needed to treat, 2.45; P = 0.01). Clinical remission in the thalidomide group was 135.0 weeks (95% CI, 32-238), compared with 8.0 weeks (95% CI, 2.4-13.6) in the placebo group (P < 0.0001). Cumulative incidence of severe adverse events was 3.1 per 1000 patient-weeks. Peripheral neuropathy and amenorrhea were the most frequent adverse events.

CONCLUSIONS: In this pilot randomized controlled trial on cases of UC refractory to immunosuppressive therapy, thalidomide compared with placebo resulted in improved clinical remission at 8 weeks of treatment and in longer term maintenance of remission. These findings require replication in larger clinical studies evaluating both thalidomide efficacy and safety.

%B Inflamm Bowel Dis %V 21 %P 1739-49 %8 2015 Aug %G eng %N 8 %1 http://www.ncbi.nlm.nih.gov/pubmed/26185909?dopt=Abstract %R 10.1097/MIB.0000000000000437 %0 Journal Article %J Clin Res Hepatol Gastroenterol %D 2015 %T Efficacy of intravenous immunoglobulin therapy in giant cell hepatitis with autoimmune hemolytic anemia: A multicenter study. %A Marsalli, Giulia %A Nastasio, Silvia %A Sciveres, Marco %A Calvo, Pier Luigi %A Ramenghi, Ugo %A Gatti, Simona %A Albano, Veronica %A Lega, Sara %A Ventura, Alessandro %A Maggiore, Giuseppe %X

BACKGROUND AND OBJECTIVE: Giant cell hepatitis with autoimmune hemolytic anemia (GCH-AHA) is a rare disease of infancy, of possible autoimmune mechanism with poor prognosis due to its scarce response to immunosuppressive drugs. The aim of this retrospective multicenter study was to evaluate the efficacy and safety of intravenous immunoglobulin (IVIg) treatment in inducing and maintaining remission of the liver disease, in patients with GCH-AHA.

METHODS: Seven children with GCH-AHA, four newly diagnosed, and three in relapse, being treated with different therapies, received one to three IVIg infusions (0.5 to 2g/kg) in association with other immunosuppressive drugs. Subsequently five of them received monthly sequential IVIg infusions (mean 13.4, range 7-24).

RESULTS: IVIg infusions as first-line therapy associated with prednisone and other immunosuppressive drugs significantly (P=0.04) reduced the aminotransferase activity in all patients and normalized prothombin activity in the only patient with severe liver dysfunction. Sequential monthly IVIg infusions determined a steroid-sparing effect and allowed a complete or partial remission in all patients, although with temporary efficacy, since relapse of the hemolytic anemia and/or of liver disease occurred in all patients. IVIg infusions were associated with mild side effects in two patients.

CONCLUSIONS: IVIg infusion can be safely and effectively administered in patients with severe GCH-AHA at diagnosis, or in case of relapse, in association with other immunosuppressive drugs. Repeated IVIg infusions may help maintain remission, however, due to their temporary efficacy, they should not be routinely employed.

%B Clin Res Hepatol Gastroenterol %8 2015 Jun 29 %G ENG %1 http://www.ncbi.nlm.nih.gov/pubmed/26138133?dopt=Abstract %R 10.1016/j.clinre.2015.03.009 %0 Journal Article %J J Pediatr Gastroenterol Nutr %D 2012 %T Acute febrile cholestatic jaundice in children: keep in mind Kawasaki disease. %A Taddio, Andrea %A Pellegrin, Maria Chiara %A Centenari, Chiara %A Filippeschi, Irene Pellegrini %A Ventura, Alessandro %A Maggiore, Giuseppe %K Child %K Child, Preschool %K Diagnosis, Differential %K Female %K Fever %K Humans %K Infant %K Jaundice, Obstructive %K Male %K Mucocutaneous Lymph Node Syndrome %K Virus Diseases %X

Kawasaki disease (KD) is characterized by persistent fever in addition to 4 of 5 signs of mucocutaneous inflammation. Although gastrointestinal involvement does not belong to the classic diagnostic criteria, it has been often associated with KD onset. We reviewed patients who were admitted for febrile cholestatic jaundice between 2003 and 2010 in 2 tertiary pediatric care centers. KD was the second most frequent cause (21%) after viral infections. Considering the relative high frequency of this condition, a high index of suspicion of KD should be maintained in patients presenting with febrile cholestatic jaundice.

%B J Pediatr Gastroenterol Nutr %V 55 %P 380-3 %8 2012 Oct %G eng %N 4 %1 http://www.ncbi.nlm.nih.gov/pubmed/22437475?dopt=Abstract %R 10.1097/MPG.0b013e31825513de %0 Journal Article %J J Pediatr Gastroenterol Nutr %D 2012 %T Delayed diagnosis of glycogen storage disease type III. %A Minen, Federico %A Cont, Gabriele %A De Cunto, Angela %A Martelossi, Stefano %A Ventura, Alessandro %A Maggiore, Giuseppe %A Faletra, Flavio %A Gasparini, Paolo %A Cassandrini, Denise %K Delayed Diagnosis %K Diagnostic Errors %K Glycogen Storage Disease Type I %K Glycogen Storage Disease Type III %K Humans %K Infant %K Liver %K Male %B J Pediatr Gastroenterol Nutr %V 54 %P 122-4 %8 2012 Jan %G eng %N 1 %1 http://www.ncbi.nlm.nih.gov/pubmed/21691223?dopt=Abstract %R 10.1097/MPG.0b013e318228d806 %0 Journal Article %J Clin Immunol %D 2011 %T Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. %A Mazza, Cinzia %A Buzi, Fabio %A Ortolani, Federica %A Vitali, Alberto %A Notarangelo, Lucia D %A Weber, Giovanna %A Bacchetta, Rosa %A Soresina, Annarosa %A Lougaris, Vassilios %A Greggio, Nella A %A Taddio, Andrea %A Pasic, Srdjan %A de Vroede, Monique %A Pac, Malgorzata %A Kilic, Sara Sebnem %A Ozden, Sanal %A Rusconi, Roberto %A Martino, Silvana %A Capalbo, Donatella %A Salerno, Mariacarolina %A Pignata, Claudio %A Radetti, Giorgio %A Maggiore, Giuseppe %A Plebani, Alessandro %A Notarangelo, Luigi D %A Badolato, Raffaele %K Adolescent %K Adult %K Child %K Child, Preschool %K Heterozygote %K Homozygote %K Humans %K Middle Aged %K Mutation %K Polyendocrinopathies, Autoimmune %K Time Factors %K Young Adult %X

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails. We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy. We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease. Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2 years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.

%B Clin Immunol %V 139 %P 6-11 %8 2011 Apr %G eng %N 1 %1 http://www.ncbi.nlm.nih.gov/pubmed/21295522?dopt=Abstract %R 10.1016/j.clim.2010.12.021