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Militello in Val di Catania, Italy

El Kholy M.,Ain Shams University | Elsedfy H.,Ain Shams University | Soliman A.,Hamad General Hospital | Anastasi S.,Hospital Garibaldi | And 2 more authors.
Journal of Pediatric Endocrinology and Metabolism

Children with thalassemia are living longer due to better care. Physicians dealing with this group of patients now have to contend with new challenges resulting from iron overload. Endocrine complications represent the most common morbidities encountered. To provide a better quality of life, these complications have to be addressed in a consistent way. For this purpose, we have compiled a set of recommendations to help physicians provide the best care possible to these patients. © 2014 by De Gruyter. Source

Anastasi S.,Hospital Garibaldi
Pediatric endocrinology reviews : PER

A 34 year-old female thalassaemia major patient regularly followed in our Thalassaemia Centre was diagnosed at 16 years of age with primary amenorrhea. The endocrine investigations were compatible with hypogonadotropic hypogonadism. Puberty was induced with oral oestrogens and progesterone, followed by transdermal hormone replacement therapy. She had initiated regular blood transfusions at 8 months of age and iron chelation therapy with desferioxamine at the age of 2 years, and in 2006 she was switched to treatment with the oral iron chelator deferasirox (DFX). In November 2009, the patient reported a temporary interruption of transdermal hormone replacement therapy during the previous July and August, and complained of the absence of menstrual flow since then. We suspected a pregnancy that was confirmed by pelvic ultrasound (presence of a fetus of 20 weeks' gestational age) and positive plasma b-hCG levels (14000 mIU/ ml). DFX was immediately discontinued and the patient was managed jointly with an obstetrician expert in haemoglobin disorders. In March 2010 she delivered via caesarean section, at 38 weeks of gestation, a male neonate with a weight of 3.300 Kg with no complications or malformations. The main messages from this patient are that: (i) the hypogonadotropic hypogonadism, secondary to iron overload, may be reversible, (ii) transdermal hormone replacement therapy and regular iron chelation therapy may have had a synergistic action on the activation of hypothalamic-pituitary-gonadal axis, (iii) the deferasirox treatment during pregnancy may be harmless for the fetus at the usually recommended therapeutic doses, (iv) periodic patient education is needed in order to fully explain the aim and the effects of sex steroid hormone replacement therapy given transdermally. The Authors discuss the current knowledge on iron chelation therapy during pregnancy. Source

Ciardiello F.,The Second University of Naples | Normanno N.,Italian National Cancer Institute | Maiello E.,Medical Oncology | Martinelli E.,The Second University of Naples | And 20 more authors.
Annals of Oncology

Background: Treatment with antiepidermal growth factor receptor (anti-EGFR) monoclonal antibodies has been restricted to metastatic colorectal cancer (mCRC) patients with RAS wild-type tumors. Next-generation sequencing (NGS) allows the assessment in a single analysis of a large number of gene alterations and might provide important predictive and prognostic information. Patients and methods: In the CAPRI-GOIM trial, 340 KRAS exon 2 wild-type mCRC patients received first-line FOLFIRI plus cetuximab. Tumor samples (182/340, 53.5%) were assessed by NGS to search for mutations in 22 genes involved in colon cancer. Results: Objective responses in the NGS cohort were observed in 104/182 patients [overall response rate (ORR) 57.1%; 95% confidence interval (95% CI) 52% to 66.4%] with a median progression-free survival (mPFS) of 9.8 (95% CI 8.7-11.5) months. NGS analysis was successfully completed in all 182 samples. One or more genemutations (up to five) were detected in 124/182 (68.1%) tumors within 14/22 genes for a total of 206 mutations. KRAS exon 2 mutations were identified in 29/182 (15.9%) samples, defined as wild type by local laboratory assessment. Frequently mutated genes were: TP53 (39.6%), KRAS exons 3/4 (8.8%), NRAS exons 2/3 (7.1%), PIK3CA exons 9/20 (13.2%), BRAF (8.2%). FOLFIRI plus cetuximab treatment determined ORR of 62.0% (95% CI 55.5% to 74.6%) with mPFS of 11.1 (95% CI 9.2-12.8) months in patients with KRAS and NRAS wild-type tumors. Conversely, ORR was 46.6% (95% CI 39.9-57.5%) with mPFS of 8.9 (95% CI 7.4-9.6) months in patients with KRAS or NRAS mutations. Similarly, the subgroup of patients carrying KRAS, NRAS, BRAF, or PIK3CA mutations showed a worse outcome, although this might be due to a prognostic effect. Conclusions: This study demonstrates that NGS analysis in mCRC is feasible, reveals high level of intra and intertumor heterogeneity, and identifies patients that might benefit of FOLFIRI plus cetuximab treatment. © The Author 2014. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. Source

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