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61.
Anna Maria Ierardi Natalie Lucchina Mario Petrillo Chiara Floridi Filippo Piacentino Alessandro Bacuzzi Paolo Fonio Federico Fontana Carlo Fugazzola Luca Brunese Gianpaolo Carrafiello 《La Radiologia medica》2014,119(7):483-498
Unresectable locally advanced pancreatic cancer with or without metastatic disease is associated with a very poor prognosis. Ablation techniques are based on direct application of chemical, thermal, or electrical energy to a tumor, which leads to cellular necrosis. Initial studies about ablation therapies of the pancreas were associated with significant morbidity and mortality, which limited widespread adoption. Modifications to the various applications, in particular combining the techniques with high-quality imaging and intra-operative approach has enabled real-time treatment monitoring and significant improvements in safety. Inoperable cases of pancreatic cancer have been treated by various ablation techniques in the last few years with promising results. The purpose of this review is to present the current status of local ablative therapies in the treatment of pancreatic advanced tumor. 相似文献
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Gabriela Franco Marques Sadamitsu Nakandakari Ana Paula Cota Pinto Coelho Maria Helena Mazzi Freire Nigro Josmar Sabage 《Anais brasileiros de dermatologia》2014,89(5):812-815
Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is
characterized by a pathological mineralization of the elastic connective tissue,
which involves predominantly the skin, eyes and cardiovascular system. Its cause lies
on mutations in the ABCC6 gene, which lead to reduction or absence of the
transmembrane transport ADP dependent protein (MRP6), causing an accumulation of
extracellular material and subsequent deposition of calcium and other minerals in the
elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing
its major clinical features and the importance of early diagnosis of the disorder,
aiming for adequate therapeutic management of associated complications. 相似文献
65.
Rangan Srinivasaraghavan M.D. Sriram Krishnamurthy M.D. Rumesh Chandar M.B.B.S. Denise Cassandrini Ph.D. Subramanian Mahadevan M.D. Ph.D. Claudio Bruno M.D. Filippo M. Santorelli M.D. 《Pediatric dermatology》2014,31(5):612-614
Chanarin–Dorfman syndrome (CDS) is a rare nonlysosomal neutral lipid storage disorder characterized by congenital ichthyosis, lipid vacuoles in leukocytes (Jordan's anomaly), and hepatomegaly. The authors herein report an 18‐month‐old boy with ichthyosis and hepatomegaly diagnosed with CDS and confirmed to have a novel c.506–3C>G mutation in the ABHD5/CGI‐58 gene. Our case also illustrates that retinoids such as acitretin could be useful in the treatment of skin manifestations in CDS even in the presence of liver derangement. 相似文献
66.
Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience 下载免费PDF全文
Giulia Angelino Paola De Angelis Simona Faraci Francesca Rea Erminia Francesca Romeo Filippo Torroni Renato Tambucci Alessia Claps Paola Francalanci Maria Chiriaco Gigliola Di Matteo Caterina Cancrini Paolo Palma Patrizia D'Argenio Luigi Dall'Oglio Paolo Rossi Andrea Finocchi 《Pediatric allergy and immunology》2017,28(8):801-809
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Margherita Vinciguerra Monica Cannata Filippo Cassarà Cristina Passarello Filippo Leto Giuseppina Calvaruso 《Hemoglobin》2017,41(4-6):234-238
We report two very rare changes in the second intron of the HBB gene, a substitution at nucleotide (nt) 726 [IVS-II-726 (A>G) (β+), NM_000518, HBB: c.316-125A>G] and a deletion of a cytosine at nt 809 [IVS-II-809 (–C) (β), NM_000518, HBB: c.316-42delC] identified during the screening program for hemoglobinopathies in the resident Sicilian population. The purpose of this study was to evaluate the clinical implication of these rare changes, particularly in coinheritance with known mutations in the globin clusters, in order to conduct an appropriate genetic counseling for at-risk couples. Molecular analysis detected the first rare nt substitution in two cases in simple heterozygosity and in two cases in association with other known mutations on globin genes, while the deletion was identified in a pregnant woman, carrier of β-thal, and in her fetus at prenatal diagnosis (PND) for hemoglobinopathies. The present study emphasizes the importance of sharing the observed changes in the globin gene cluster, especially in the case of new or rare undefined mutations, in order to facilitate the determination of their phenotypic expression and possible interactions with known molecular defects. 相似文献
70.
Acute‐phase response following full‐mouth versus quadrant non‐surgical periodontal treatment: A randomized clinical trial 下载免费PDF全文