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Paola Finsinger Massimo Breccia Clara Minotti Ida Carmosino Corrado Girmenia Marta Chisini Paola Volpicelli Federico Vozella Angela Romano Chiara Montagna Gioia Colafigli Giuseppe Cimino Giuseppe Avvisati Maria Concetta Petti Francesco Lo-Coco Roberto Foà Roberto Latagliata 《Annals of hematology》2015,94(2):195-200
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A case of Rubinstein‐Taybi syndrome associated with growth hormone deficiency in childhood 下载免费PDF全文
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Katia Falasca Jacopo Vecchiet Claudio Ucciferri Marta Di Nicola Chiara D’Angelo Marcella Reale 《Nutrients》2015,7(10):8335-8347
Inflammation persists in patients infected with HIV. Reduction of inflammatory cytokines and microbial translocation might be one way that this could be managed. Purpose: The anti-inflammatory properties of certain probiotic strains prompted us to investigate whether a probiotic could reduce the inflammatory index of HIV-infected patients. Methods: The study involved 30 HIV+ males on antiretroviral therapy, who were given one bottle of fermented milk Yakult Light® containing Lactobacillus casei Shirota (LcS) twice a day for four weeks. Results: The probiotic LcS was associated with an increase of T lymphocytes and a significant increase of CD56+ cells (p = 0.04). There was also a significant decrease of mRNA levels of TGFβ, IL-10 and IL-12 (p < 0.001) and IL-1β expression (p < 0.001) and an increase of serum IL-23 (p = 0.03). In addition, decreased inflammation and cardiovascular risk were observed, as shown by a reduction of cystatin C (p < 0.001). Conclusions: These data provide preliminary evidence that probiotic supplementation may modulate certain immunological parameters and some of the cytokines that were analyzed. Thus, we propose that LcS may be an inexpensive and practical strategy to support the immune function of HIV+ patients. 相似文献
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Marco Castori Chiara Dordoni Silvia Morlino Isabella Sperduti Marco Ritelli Michele Valiante Nicola Chiarelli Arianna Zanca Claudia Celletti Marina Venturini Filippo Camerota Piergiacomo Calzavara-Pinton Paola Grammatico Marina Colombi 《American journal of medical genetics. Part C, Seminars in medical genetics》2015,169(1):43-53
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Alessandro Geroldi Valeria Prada Francesca Veneri Lucia Trevisan Paola Origone Marina Grandis Angelo Schenone Chiara Gemelli Paola Lanteri Paola Fossa Paola Mandich Emilia Bellone 《Journal of the peripheral nervous system : JPNS》2020,25(2):102-106
Peripheral myelin protein 2 (PMP2) is a small protein located on the cytoplasmic side of compact myelin, involved in the lipids transport and in the myelination process. In the last years few families affected with demyelinating Charcot‐Marie‐Tooth neuropathy (CMT1), caused by PMP2 mutations, have been identified. In this study we describe the first case of a PMP2 in‐frame deletion. PMP2 was analyzed by direct sequencing after exclusion of the most frequent CMT‐associated genes by using a next generation sequencing (NGS) genes panel. Sanger sequencing was used for family's segregation analysis. Molecular modeling analysis was used to evaluate the mutation impact on the protein structure. A novel PMP2: p.I50del has been identified in a child with early onset CMT1 and in three affected family members. All family members show an early onset demyelinating neuropathy without other distinguish features. Molecular modeling analysis and in silico evaluations do not suggest a strong impact on the overall protein structure, but a most likely altered protein function. This study suggests the importance to add PMP2 in CMT NGS genes panels or, at most, to test it after major CMT1 genes exclusion, due to the lack of diagnostic‐addressing additional features. 相似文献
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Alessandro Salvalaggio Annachiara Cagnin Piero Marson Franco Ferracci Pietro Cortelli Maurizio Corbetta Chiara Briani 《Journal of clinical apheresis》2020,35(3):231-233
Around half of the patients with Guillain-Barré syndrome (GBS) present autonomic dysfunction requiring admission to intensive care unit in up to a quarter of patients. Treatment of GBS consists of plasma exchange (PE) and intravenous immunoglobulins (IVIG). Posterior reversible encephalopathy syndrome (PRES) consists in a reversible subcortical vasogenic brain edema caused by endothelial damage triggered by abrupt blood pressure changes. We report on a woman who presented with PRES in the course of GBS treated first with IVIG, and then with PE. The present report underlines the challenge that the clinicians face when these two rare syndromes concur. The literature is not helpful considering that both blood pressure fluctuations and IVIG are reported to be involved in the pathogenesis of PRES. In the present letter, both pathogenic mechanisms and clinical management considerations are discussed. 相似文献