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71.
Camaschella C Roetto A De Gobbi M 《Best Practice & Research: Clinical Haematology》2002,15(2):261-276
Haemochromatosis is an autosomal recessive disorder common among Caucasians that leads to iron overload. Molecular studies have shown that the disease is prevalently due to a mutation in the HFE gene. Although C282Y in the homozygous state remains the most common patient's genotype, other genes and genetic mutations are associated with haemochromatosis. Haemochromatosis type 2, a severe form with juvenile onset, is due to mutations in an unidentified gene on chromosome 1q. Haemochromatosis type 3 is linked to a locus on 7q22 and is due to mutations in the transferrin receptor 2. Haemochromatosis type 4, the only autosomal dominant form, is caused by mutations in ferroportin 1 on 2q32. The genes responsible for African and neonatal forms of iron overload are still unknown. The identification of all of the genes associated with haemochromatosis is critical for molecular-based diagnosis and central to our understanding of the regulation of iron homeostasis. 相似文献
72.
73.
Steigerwalt RD Cesarone MR Belcaro G Pascarella A De Angelis M Bacci S 《The International journal of angiology》2008,17(4):193-196
BACKGROUND:
Acute nonarteritic anterior ischemic optic neuropathy (NAION) is considered to be acute ischemia of the posterior ciliary arteries. Prostaglandin E1 (PGE1), a powerful microcirculation vasodilator, has been shown to improve ocular blood flow.DESIGN:
A nonrandomized, comparative trial.METHODS:
Eight consecutive cases of NAION were treated with intravenous steroids and PGE1. Seven control cases of NAION were treated with acetylsalicylic acid and oral steroids. Fisher’s exact test was used for statistical analysis.RESULTS:
The visual acuity improved in seven cases of NAION treated with PGE1 and was unchanged in one. Of the seven control cases, four had no change in vision and three lost further visual acuity on follow-up visits.CONCLUSIONS:
Intravenous PGE1 and steroids should be considered in cases of NAION to immediately restore blood flow to the optic nerve and improve visual acuity. 相似文献74.
Isgrò A Aiuti A Mezzaroma I Ruco L Pinti M Cossarizza A Aiuti F 《AIDS research and human retroviruses》2005,21(1):51-57
HIV-1 protease inhibitors (PIs) may improve hematopoietic functions owing to their direct effects on bone marrow (BM) progenitor cells. In this study we investigated this hypothesis evaluating the effect of adding ritonavir (RTV) and indinavir (IND) on hematopoietic colony formation assays by colony-forming cell (CFC) and long-term culture-initiating cell (LTC-IC) assays, on apoptosis, on cytokine production and stromal cells, in subjects with HIV-1 infection, and in seronegative controls. After PI addition, CFC and LTC-IC assays in HIV-1-infected patients showed levels of colony growth significantly higher than those observed at baseline; the same PI activity on colony formation was observed in healthy subjects. No significant modifications on Fas, the membrane form of Fas (mFas) and Fas-ligand (FasL) expression, and on cytokine production were observed at BM level after the addition of PIs. At baseline, in HIV-1-infected patients, the majority of the stromal cells appeared as large and rounded, whereas after the addition of RTV or IND the stromal cells exhibited a "fibroblast-like" morphology and produced higher stem cell factor (SCF) and lower MIP-1alpha levels when compared with the stromal production without the addition of IND. RTV and IND increased colony growth of BM obtained either from HIV-1-infected patients or from normal individuals, in parallel with the normalization of functional and morphological characteristics of stromal cells. 相似文献
75.
Meenakshi Hegde Malini Mukherjee Zakaria Grada Antonella Pignata Daniel Landi Shoba A. Navai Amanda Wakefield Kristen Fousek Kevin Bielamowicz Kevin K.H. Chow Vita S. Brawley Tiara T. Byrd Simone Krebs Stephen Gottschalk Winfried S. Wels Matthew L. Baker Gianpietro Dotti Maksim Mamonkin Malcolm K. Brenner Jordan S. Orange Nabil Ahmed 《The Journal of clinical investigation》2021,131(13)
76.
Antonella Tinari Paolo Monini Magda Marchetti Maria Grazia Ammendolia Patrizia Leone Barbara Ensoli 《Ultrastructural pathology》2013,37(5):301-310
The human herpesvirus 8 (HHV-8), also known as Kaposi's sarcoma-associated herpesvirus, is a gamma herpesvirus associated with AIDS-related body cavity-based lymphomas (BCBL), also called primary effusion lymphomas (PEL). These are a rare form of non-Hodgkin lymphomas in which HHV-8 is present, often associated with Epstein-Barr virus (EBV) infection. HHV-8 is also present in a latent state or in a state of low-level persistence in different primary effusion lymphoma-derived cell lines, such BCBL-1 cells, that lack EBV infection. This cell line was induced to produce mature virions by treatment with 12- O -tetradecanoyl phorbol-13-acetate (TPA) and the characteristic ultrastructural features of HHV-8 lytic replication were identified and compared to those of the other members of Herpesviridae family. 相似文献
77.
Giorgia Bertazzoni Alessandro Sgambato Mario Migaldi Antonella Grottola Anna Maria Teresa Sabbatini Nadia Nanni Alberto Farinetti Francesco Iachetta Elisabetta Giacobazzi Monica Pecorari Luca Reggiani Bonetti 《Journal of medical virology》2013,85(1):105-109
Testicular germ cell tumors account for about 1% of all cancers. The incidence of these tumors is increasing and they represent the most common solid malignancies of young men aged 15–40 years with seminoma being one of the most common histotype. Pathogenesis of testicular germ cell tumors remains unknown and, although cryptorchidism is considered the main risk factor, there is evidence of an association with environmental and genetic risk factors. Human papillomaviruses (HPV) are a family of DNA viruses and represent a major risk factor for cervical cancer. In addition, they have been associated with other human non‐malignant and malignant diseases, including breast and head and neck cancer. HPV sequences have been detected throughout the male lower genitourinary tract as well as in seminal fluid and an increased testicular tumorigenesis has been reported in HPV transgenic mice. Aim of this study was to evaluate the potential involvement of HPV in human testicular tumorigenesis. Real‐time PCR employing GP5+/GP6+ consensus HPV primers was used to examine the presence of HPV sequences in a subset of human seminoma (n = 61) and normal testicles (n = 23). None of the specimens tested displayed the presence of HPV DNA. These findings do not support an association between HPV and human seminoma and warrant further studies to assess definitively the role of these viruses in human testicular tumorigenesis. J. Med. Virol. 85:105–109, 2012. © 2012 Wiley Periodicals, Inc. 相似文献
78.
Maurizio Bellavia Giovanni Tomasello Marcello Romeo Provvidenza Damiani Attilio I. Lo Monte Luciano Lozio Claudia Campanella Antonella Marino Gammazza Francesca Rappa Giovanni Zummo Massimo Cocchi Everly Conway de Macario Alberto J. L. Macario Francesco Cappello 《Medical microbiology and immunology》2013,202(6):393-406
In this work, we propose that for further studies of the physiopathology and treatment for inflammatory bowel diseases, an integral view of the conditions, including the triad of microbiota–heat shock proteins (HSPs)–probiotics, ought to be considered. Microbiota is the complex microbial flora that resides in the gut, affecting not only gut functions but also the health status of the whole body. Alteration in the microbiota’s composition has been implicated in a variety of pathological conditions (e.g., ulcerative colitis, UC), involving both gut and extra-intestinal tissues and organs. Some of these pathologies are also associated with an altered expression of HSPs (chaperones) and this is the reason why they may be considered chaperonopathies. Probiotics, which are live microorganisms able to restore the correct, healthy equilibrium of microbiota composition, can ameliorate symptoms in patients suffering from UC and modulate expression levels of HSPs. However, currently probiotic therapy follows ex-adiuvantibus criteria, i.e., treatments with beneficial effects but whose mechanism of action is unknown, which should be changed so the probiotics needed in each case are predetermined on the basis of the patient’s microbiota. Consequently, efforts are necessary to develop diagnostic tools for elucidating levels and distribution of HSPs and the microbiota composition (microbiota fingerprint) of each subject and, thus, guide specific probiotic therapy, tailored to meet the needs of the patient. Microbiota fingerprinting ought to include molecular biology techniques for sequencing highly conserved DNA, e.g., genes encoding 16S RNA, for species identification and, in addition, quantification of each relevant microbe. 相似文献
79.
Yael H. Edrey David X. Medina Maria Gaczynska Pawel A. Osmulski Salvatore Oddo Antonella Caccamo Rochelle Buffenstein 《Neurobiology of aging》2013
Amyloid beta (Aβ) is implicated in Alzheimer's disease (AD) as an integral component of both neural toxicity and plaque formation. Brains of the longest-lived rodents, naked mole-rats (NMRs) approximately 32 years of age, had levels of Aβ similar to those of the 3xTg-AD mouse model of AD. Interestingly, there was no evidence of extracellular plaques, nor was there an age-related increase in Aβ levels in the individuals examined (2–20+ years). The NMR Aβ peptide showed greater homology to the human sequence than to the mouse sequence, differing by only 1 amino acid from the former. This subtle difference led to interspecies differences in aggregation propensity but not neurotoxicity; NMR Aβ was less prone to aggregation than human Aβ. Nevertheless, both NMR and human Aβ were equally toxic to mouse hippocampal neurons, suggesting that Aβ neurotoxicity and aggregation properties were not coupled. Understanding how NMRs acquire and tolerate high levels of Aβ with no plaque formation could provide useful insights into AD, and may elucidate protective mechanisms that delay AD progression. 相似文献
80.
Marelli Sara Castelnuovo Alessandra Somma Antonella Castronovo Vincenza Mombelli Samantha Bottoni Daniela Leitner Caterina Fossati Andrea Ferini-Strambi Luigi 《Journal of neurology》2021,268(1):8-15
Journal of Neurology - In Italy, lockdown due to COVID-19 health emergency started on March 10 and partially ended on May 3rd, 2020. There was a significant increase of psychological distress and... 相似文献