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81.
Giulia Pascolini Emanuele Agolini Nicole Fleischer Elisa Gulotta Claudia Cesario Gemma D'Elia Antonio Novelli Silvia Majore Paola Grammatico 《American journal of medical genetics. Part A》2020,182(7):1791-1795
A rare developmental delay (DD)/intellectual disability (ID) syndrome with craniofacial dysmorphisms and autistic features, termed White–Sutton syndrome (WHSUS, MIM#614787), has been recently described, identifying truncating mutations in the chromatin regulator POGZ (KIAA0461, MIM#614787). We describe a further WHSUS patient harboring a novel nonsense de novo POGZ variant, which afflicts a protein domain with transposase activity less frequently impacted by mutational events (DDE domain). This patient displays additional physical and behavioral features, these latter mimicking Smith–Magenis syndrome (SMS, MIM#182290). Considering sleep–wake cycle anomalies and abnormal behavior manifested by this boy, we reinforced the clinical resemblance between WHSUS and SMS, being both chromatinopathies. In addition, using the DeepGestalt technology, we identified a different facial overlap between WHSUS patients with mutations in the DDE domain (Group 1) and individuals harboring variants in other protein domains/regions (Group 2). This report further delineates the clinical and molecular repertoire of the POGZ‐related phenotype, adding a novel patient with uncommon clinical and behavioral features and provides the first computer‐aided facial study of WHSUS patients. 相似文献
82.
Association between γ marker,human leucocyte antigens and killer immunoglobulin‐like receptors and the natural course of human cytomegalovirus infection: a pilot study performed in a Sicilian population 下载免费PDF全文
Danilo Di Bona Giulia Accardi Anna Aiello Massimo Bilancia Giuseppina Candore Claudia Colomba Calogero Caruso Giovanni Duro Caterina M. Gambino Luigi Macchia Janardan P. Pandey 《Immunology》2018,153(4):523-531
Natural killer (NK) cells provide a major defence against human cytomegalovirus (HCMV) infection through the interaction of their surface receptors, including the activating and inhibitory killer immunoglobulin‐like receptors (KIRs), and human leucocyte antigen (HLA) class I molecules. Also γ marker (GM) allotypes, able to influence the NK antibody‐dependent cell‐mediated cytotoxicity, appear to be involved in the immunological control of virus infections, including HCMV. In some cases, their contribution requires epistatic interaction with other genes of the immune system, such as HLA. In the present report, with the aim of gaining insight into the immune mechanisms controlling HCMV, we have studied the possible associations among humoral and NK responses, and HCMV infections. In a previous study we assessed whether the KIR and HLA repertoire might influence the risk of developing symptomatic (n = 60) or asymptomatic (n = 60) disease after primary HCMV infection in the immunocompetent host. In the present study, the immunocompetent patients with primary symptomatic HCMV infection were genotyped for GM3/17 and GM23 allotypes, along with the 60 participants with a previous asymptomatic infection as controls. Notwithstanding the presence of missing data record, advanced missing data recovery techniques were able to show that individuals carrying the GM23 allotypes, both homozygous and heterozygous, GM17/17, HLA‐C2 and Bw4T KIR‐ligand groups are associated with the risk of developing symptomatic infection. Our findings on the role of both cellular and humoral immunity in the control of HCMV infection should be of value in guiding efforts to reduce HCMV‐associated health complications in the elderly, including immunosenescence, and in transplantation. 相似文献
83.
84.
Giulia Rivasi MD Matteo Bulgaresi MD Chiara Bandinelli MD Daniela Balzi BSc Francesca Tarantini PhD Silvia Tognelli MD Chiara Lorini PhD Primo Buscemi MD Lorenzo Baggiani MD Giancarlo Landini MD Andrea Ungar PhD Guglielmo Bonaccorsi MD Enrico Mossello PhD Enrico Benvenuti MD 《Journal of the American Geriatrics Society》2022,70(5):1336-1341
85.
Suppressive Effects of 24,25-Dihydroxycholecalciferol on Bone Resorption Induced by Acute Bilateral Nephrectomy in Rats 下载免费PDF全文
Jana Henriette Pavlovitch Giulia Cournot-Witmer Agnes Bourdeau Sonia Balsan Jan A. Fischer Guy Heynen 《The Journal of clinical investigation》1981,68(3):803-810
The possible suppressive effects of 24,25-dihydroxycholecalciferol on secondary hyperparathyroidism and increased bone resorption were investigated in adult rats raised on a diet normal in calcium, phosphorus, and vitamin D, and subjected to acute bilateral nephrectomy. The animals had received subcutaneous radiocalcium 4 wk before the experiment. 5 h after nephrectomy an increase in serum total calcium, 45Ca-specific activity, citrate, phosphorus, and magnesium concentrations were observed. Serum immunoreactive parathyroid hormone increased, while serum calcitonin decreased. The osteoclast count in the tibial metaphyses was augmented. The biochemical and histological changes observed were partly parathyroid hormone and calcitonin independent, as they also occurred in parathyroidectomized hypocalcemic rats. Pretreatment with 650 pmol of 24,25-dihydroxycholecalciferol 16 h before nephrectomy prevented bone calcium mobilization and diminished the rise in serum total calcium and citrate both in parathyroid-intact and in parathyroidectomized animals. In parathyroid-intact rats, serum immunoreactive parathyroid hormone and calcitonin remained normal in spite of the fall in serum-ionized calcium, and the number of osteoclasts did not increase. In parathyroidectomized rats, 24,25-dihydroxycholecalciferol did not prevent the postnephrectomy rise in the osteoclast count. This latter observation suggests that this metabolite exerts its effect on bone either by acting on cells other than osteoclasts, i.e., the osteocytes, or by inhibiting cell activity. At equimolar dosage 1,25-dihydroxycholecalciferol had a potent stimulatory effect on bone resorption. This effect of 1,25-dihydroxycholecalciferol was partly blocked by the simultaneous administration of 24,25-dihydroxycholecalciferol. 相似文献
86.
87.
Manuel Menzocchi Giulia Paoletti Alexa Huber Giancarlo Carli Francesca I. Cavallaro Diego Manzoni 《The International journal of clinical and experimental hypnosis》2013,61(1):122-135
In highly hypnotizable individuals (highs), postural control is more independent of sensory information than in low hypnotizable subjects (lows). The aim of the study was to find out whether locomotion is also less affected in highs than in lows by visual suppression and changes in the neck proprioceptive input. Eighteen highs and 20 lows were asked to walk straight ahead, blindfolded, in basal conditions (face forward), during real and imagined right/left head rotation and mental computation. Highs detected deviations from the straight trajectory better than lows. Their walking direction was more straight during basal conditions and less influenced than the lows' one by mental computation and real/imagined rotation of the head. The results confirm highs' lower dependence on sensory inputs, although this cannot be definitely attributed to a better internal representation of space or to higher behavioral automaticity. 相似文献
88.
Emanuele Angelucci Valeria Santini Anna Angela Di Tucci Giulia Quaresmini Carlo Finelli Antonio Volpe Giovanni Quarta Flavia Rivellini Grazia Sanpaolo Daniela Cilloni Flavia Salvi Giovanni Caocci Alfredo Molteni Daniele Vallisa Maria Teresa Voso Susanna Fenu Lorenza Borin Giancarlo Latte Giuliana Alimena Sergio Storti Alfonso Piciocchi Paola Fazi Marco Vignetti Sante Tura 《European journal of haematology》2014,92(6):527-536
89.
Letizia Polito Massimo Bortolotti Daniele Mercatelli Maria Giulia Battelli Andrea Bolognesi 《Toxins》2013,5(10):1698-1722
Thirty years ago, the type 1 ribosome-inactivating protein (RIP) saporin-S6 (also known as saporin) was isolated from Saponaria officinalis L. seeds. Since then, the properties and mechanisms of action of saporin-S6 have been well characterized, and it has been widely employed in the construction of conjugates and immunotoxins for different purposes. These immunotoxins have shown many interesting results when used in cancer therapy, particularly in hematological tumors. The high enzymatic activity, stability and resistance to conjugation procedures and blood proteases make saporin-S6 a very useful tool in cancer therapy. High efficacy has been reported in clinical trials with saporin-S6-containing immunotoxins, at dosages that induced only mild and transient side effects, which were mainly fever, myalgias, hepatotoxicity, thrombocytopenia and vascular leak syndrome. Moreover, saporin-S6 triggers multiple cell death pathways, rendering impossible the selection of RIP-resistant mutants. In this review, some aspects of saporin-S6, such as the chemico-physical characteristics, the structural properties, its endocytosis, its intracellular routing and the pathogenetic mechanisms of the cell damage, are reported. In addition, the recent progress and developments of saporin-S6-containing immunotoxins in cancer immunotherapy are summarized, including in vitro and in vivo pre-clinical studies and clinical trials. 相似文献