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1دورية أكاديمية
المؤلفون: Amr Khalifa, Ana Guijarro, Silvia Ravera, Nadia Bertola, Maria Pia Adorni, Bianca Papotti, Lizzia Raffaghello, Roberto Benelli, Pamela Becherini, Asmaa Namatalla, Daniela Verzola, Daniele Reverberi, Fiammetta Monacelli, Michele Cea, Livia Pisciotta, Franco Bernini, Irene Caffa, Alessio Nencioni
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: Science
الوصف: Abstract Identifying oncological applications for drugs that are already approved for other medical indications is considered a possible solution for the increasing costs of cancer treatment. Under the hypothesis that nutritional stress through fasting might enhance the antitumour properties of at least some non-oncological agents, by screening drug libraries, we find that cholesterol biosynthesis inhibitors (CBIs), including simvastatin, have increased activity against cancers of different histology under fasting conditions. We show fasting’s ability to increase CBIs’ antitumour effects to depend on the reduction in circulating insulin, insulin-like growth factor-1 and leptin, which blunts the expression of enzymes from the cholesterol biosynthesis pathway and enhances cholesterol efflux from cancer cells. Ultimately, low cholesterol levels through combined fasting and CBIs reduce AKT and STAT3 activity, oxidative phosphorylation and energy stores in the tumour. Our results support further studies of CBIs in combination with fasting-based dietary regimens in cancer treatment and highlight the value of fasting for drug repurposing in oncology.
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
المصدر: Genes, Vol 15, Iss 6, p 654 (2024)
مصطلحات موضوعية: creb binding protein, Rubinstein–Taybi syndrome, mosaicism, correlations, genotype–phenotype, Genetics, QH426-470
الوصف: Rubinstein–Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphisms, and enlarged thumbs and halluces. Approximately 55% of RTS cases result from pathogenic variants in the CREBBP gene, with an additional 8% linked to the EP300 gene. Given the close relationship between these two genes and their involvement in epigenomic modulation, RTS is grouped into chromatinopathies. The extensive clinical heterogeneity observed in RTS, coupled with the growing number of disorders involving the epigenetic machinery, poses a challenge to a phenotype-based diagnostic approach for these conditions. Here, we describe the first case of a patient clinically diagnosed with RTS with a CREBBP truncating variant in mosaic form. We also review previously described cases of mosaicism in CREBBP and apply clinical diagnostic guidelines to these patients, confirming the good specificity of the consensus. Nonetheless, these reports raise questions about the potential underdiagnosis of milder cases of RTS. The application of a targeted phenotype-based approach, coupled with high-depth NGS, may enhance the diagnostic yield of whole-exome sequencing (WES) in mild and mosaic conditions.
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Elisa Proietti, Fabio Rapallo, Elena Molinari, Viviana Mucci, Lucio Marinelli, Consuelo Borgarelli, Bruno Burlando, Livia Pisciotta, Ilaria Demori
المصدر: Nutrients, Vol 16, Iss 7, p 1078 (2024)
مصطلحات موضوعية: pain, food habits, lifestyle, dietary supplements, body mass index, Nutrition. Foods and food supply, TX341-641
الوصف: Fibromyalgia (FM) is a multidimensional disorder in which intense chronic pain is accompanied by a variety of psychophysical symptoms that impose a burden on the patients’ quality of life. Despite the efforts and the recent advancement in research, FM pathogenesis and effective treatment remain unknown. Recently, the possible role of dietary patterns and/or components has been gaining attention. The current study aimed to investigate a potential correlation between adherence to the Mediterranean diet (MedDiet) and FM severity in a sample of Italian FM patients. An online survey was designed, composed of customized questions and validated questionnaires with the aim of investigating the intensity and type of pain, the presence of other psychophysical symptoms, the overall impact of FM, general food and lifestyle habits, and adherence to the MedDiet. The collected responses were analyzed for descriptive statistics, linear regression, and propensity score analyses. The results show that, despite considerable use of pharmaceuticals and supplements, FM participants suffered from a high-severity grade disease. However, those with good adherence to the MedDiet experienced a lower pain intensity and overall FM impact. A propensity score analysis indicates a positive influence of the MedDiet against FM severity, thus unveiling the need for well-designed intervention studies to evaluate the therapeutic potential of different dietary patterns.
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Andrea Pasta, Elena Formisano, Francesco Calabrese, Maria Corina Plaz Torres, Giorgia Bodini, Elisa Marabotto, Livia Pisciotta, Edoardo Giovanni Giannini, Manuele Furnari
المصدر: Nutrients, Vol 16, Iss 2, p 265 (2024)
مصطلحات موضوعية: food intolerances, irritable bowel syndrome, gastrointestinal physiology, dietary management, low-FODMAP diet, Nutrition. Foods and food supply, TX341-641
الوصف: This narrative review delves into the intricate relationship between irritable bowel syndrome (IBS) and food intolerances. IBS, a chronic functional gastrointestinal disorder, is characterized by symptoms like abdominal pain and altered bowel habits. The prevalence of IBS has increased globally, especially among young adults. Food and dietary habits play a crucial role in IBS management. About 85–90% of IBS patients report symptom exacerbation linked to specific food consumption, highlighting the strong connection between food intolerances and IBS. Food intolerances often exhibit a dose-dependent pattern, posing a challenge in identifying trigger foods. This issue is further complicated by the complex nature of gastrointestinal physiology and varying food compositions. This review discusses various dietary patterns and their impact on IBS, including the low-FODMAP diet, gluten-free diet, and Mediterranean diet. It highlights the importance of a personalized approach in dietary management, considering individual symptom variability and dietary history. In conclusion, this review emphasizes the need for accurate diagnosis and holistic management of IBS, considering the complex interplay between dietary factors and gastrointestinal pathophysiology. It underlines the importance of patient education and adherence to treatment plans, acknowledging the challenges posed by the variability in dietary triggers and the psychological impact of dietary restrictions.
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Amr Khalifa, Ana Guijarro, Silvia Ravera, Nadia Bertola, Maria Pia Adorni, Bianca Papotti, Lizzia Raffaghello, Roberto Benelli, Pamela Becherini, Asmaa Namatalla, Daniela Verzola, Daniele Reverberi, Fiammetta Monacelli, Michele Cea, Livia Pisciotta, Franco Bernini, Irene Caffa, Alessio Nencioni
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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6دورية أكاديمية
المؤلفون: Elena Formisano, Irene Schiavetti, Raffaella Gradaschi, Paolo Gardella, Carlotta Romeo, Livia Pisciotta, Samir Giuseppe Sukkar
المصدر: Nutrients, Vol 15, Iss 22, p 4822 (2023)
مصطلحات موضوعية: protein-sparing modified fast, continuous enteral feeding, weight loss, severe obesity, VLCKD, whey protein, Nutrition. Foods and food supply, TX341-641
الوصف: Background: Protein-sparing modified fast (PSMF) diet is a very-low-carbohydrate ketogenic diet administered to patients with obesity, which preserves lean mass and suppresses appetite as well as continuous enteral feeding. Thus, we aim to evaluate the effect of the PSMF diet administered continuously by nasogastric tube (NGT) or orally. Methods: Patients with a body mass index (BMI) > 34.9 kg/m2 were randomly assigned to receive a whey protein PSMF formula through NGT (ProMoFasT) or orally. Data were collected at baseline and after 150 days. The endpoints were assessed in the intention-to-treat population. Results: We enrolled 20 patients in the ProMoFasT group and 24 in the oral group. No differences in body weight, BMI or waist circumference between the two groups were found after 150 days. At follow-up, FFM (%) and MM (%) results were higher in the ProMoFasT group than the oral group (63.1% vs. 52.9%, p = 0.012 and 45.0% vs. 36.1%, p = 0.009, respectively) and FM (kg) and FM (%) were significantly lower in the ProMoFasT group (36.9 kg vs. 44.0 kg, p = 0.033 and 37.4% vs. 44.9%, p = 0.012, respectively). Insulin levels were lower in the ProMoFasT group than the oral group at follow-up (11.8 mU/L vs. 28.0 mU/L, p = 0.001, respectively). Conclusion: The ProMoFasT is more effective in improving body composition and glucometabolic markers than the same diet administered orally.
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Cristina Pederiva, Marta Gazzotti, Marcello Arca, Maurizio Averna, Giuseppe Banderali, Giacomo Biasucci, Marta Brambilla, Paola Sabrina Buonuomo, Paolo Calabrò, Francesco Cipollone, Nadia Citroni, Sergio D’Addato, Maria Del Ben, Simonetta Genovesi, Ornella Guardamagna, Gabriella Iannuzzo, Lorenzo Iughetti, Giuseppe Mandraffino, Lorenzo Maroni, Giuliana Mombelli, Sandro Muntoni, Fabio Nascimbeni, Angelina Passaro, Fabio Pellegatta, Matteo Pirro, Livia Pisciotta, Roberta Pujia, Riccardo Sarzani, Roberto Scicali, Patrizia Suppressa, Sabina Zambon, Maria Grazia Zenti, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Federica Galimberti, Manuela Casula, Maria Elena Capra
المصدر: Nutrients, Vol 15, Iss 15, p 3468 (2023)
مصطلحات موضوعية: familial hypercholesterolemia, paediatric, pathology register, survey, management, Nutrition. Foods and food supply, TX341-641
الوصف: Detection and treatment of patients with familial hypercholesterolemia (FH) starting from childhood is fundamental to reduce morbidity and mortality. The activity of National realities such as the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) Paediatric Group, founded in 2018, is a milestone in this context. The aim of this exploratory survey, conducted in October 2021 among Italian lipid clinics included in the LIPIGEN Paediatric Group, was to investigate the current clinical approach in the management and treatment of paediatric patients with suspected FH. A digital questionnaire composed of 20 questions investigating nutritional treatment and nutraceutical and pharmacological therapy for children and adolescents with FH was proposed to the principal investigators of 30 LIPIGEN centres. Twenty-four centres responded to the section referring to children aged < 10 years and 30 to that referring to adolescents. Overall, 66.7% of children and 73.3% of adolescents were given lipid-lowering nutritional treatment as the first intervention level for at least 3–4 months (29.2% and 23.3%) or 6–12 months (58.3% and 53.3%). Nutraceuticals were considered in 41.7% (regarding children) and 50.0% (regarding adolescents) of the centres as a supplementary approach to diet. Lipid-lowering drug therapy initiation was mainly recommended (91.7% and 80.0%). In 83.3% of children and 96.7% of adolescents, statins were the most frequently prescribed drug. We highlighted several differences in the treatment of paediatric patients with suspected FH among Italian centres; however, the overall approach is in line with the European Atherosclerosis Society (EAS) recommendations for FH children and adolescents. We consider this survey as a starting point to reinforce collaboration between LIPIGEN centres and to elaborate in the near future a consensus document on the management of paediatric patients with suspected FH so as to improve and uniform detection, management, and treatment of these patients in our country.
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Elena Formisano, Elisa Proietti, Consuelo Borgarelli, Livia Pisciotta
المصدر: Nutrients, Vol 15, Iss 15, p 3387 (2023)
مصطلحات موضوعية: hypovitaminosis D, psoriasis, vitamin D supplementation, bone metabolism, Nutrition. Foods and food supply, TX341-641
الوصف: Psoriasis is a chronic immune-dysregulated inflammatory disease and hypovitaminosis D is considered a risk factor. We conducted an online database search to review and meta-analyze the relationship between vitamin D, other bone metabolism parameters, and psoriasis. The efficacy of oral vitamin D supplementation in improving Psoriasis Area and Severity Index (PASI) was also evaluated. Non-original articles, case reports, and animal studies were excluded. Bias risk was assessed according to the Cochrane Collaboration’s tool and the Newcastle–Ottawa scale in randomized controlled trials (RCTs) and case–control studies, respectively. Unstandardized mean differences were used for data synthesis. Twenty-three studies reported serum 25 hydroxyvitamin D (25(OH)D) levels in 1876 psoriasis patients and 7532 controls. Psoriasis patients had significantly lower 25(OH)D levels than controls (21.0 ± 8.3 vs. 27.3 ± 9.8, p < 0.00001). Conversely, 450 psoriasis patients had lower levels of parathormone than 417 controls (38.7 ± 12.8 vs. 43.7 ± 16.5, p = 0.015). Four RCTs examined the effect of oral vitamin D supplementation on psoriasis for 173 patients and 160 patients were treated with placebo. No significant differences were found in PASI after 3, 6, and 12 months of supplementation. It is shown that 25(OH)D serum levels are significantly lower in psoriasis, but, although the granularity of RCT methodology may have influenced the pooled analysis, vitamin D supplementation did not seem to improve clinical manifestations.
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Laura D’Erasmo, Antonio Gallo, Angelo Baldassare Cefalù, Alessia Di Costanzo, Samir Saheb, Antonina Giammanco, Maurizio Averna, Alessio Buonaiuto, Gabriella Iannuzzo, Giuliana Fortunato, Arturo Puja, Tiziana Montalcini, Chiara Pavanello, Laura Calabresi, Giovanni Battista Vigna, Marco Bucci, Katia Bonomo, Fabio Nota, Tiziana Sampietro, Francesco Sbrana, Patrizia Suppressa, Carlo Sabbà, Fabio Fimiani, Arturo Cesaro, Paolo Calabrò, Silvia Palmisano, Sergio D’Addato, Livia Pisciotta, Stefano Bertolini, Randa Bittar, Olga Kalmykova, Sophie Béliard, Alain Carrié, Marcello Arca, Eric Bruckert
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
مصطلحات موضوعية: Homozygous hypercholesterolemia, Lipoprotein apheresis, Lomitapide, LDL, Therapeutics, Genetic disease, Medicine
الوصف: Abstract Background Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with the standard protocol, which associates maximally tolerated dose of lipid-lowering medications with lipoprotein apheresis (LA). Lomitapide is an emerging therapy in HoFH, but its place in the treatment algorithm is disputed because a comparison of its long-term efficacy versus LA in reducing LDL-C burden is not available. We assessed changes in long-term LDL-C burden and goals achievement in two independent HoFH patients’ cohorts, one treated with lomitapide in Italy (n = 30) and the other with LA in France (n = 29). Results The two cohorts differed significantly for genotype (p = 0.004), baseline lipid profile (p
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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10دورية أكاديمية
المؤلفون: Laura D’Erasmo, Antonina Giammanco, Patrizia Suppressa, Chiara Pavanello, Gabriella Iannuzzo, Alessia Di Costanzo, Daniele Tramontano, Ilenia Minicocci, Simone Bini, Anja Vogt, Kim Stewards, Jeanine Roeters Van Lennep, Stefano Bertolini, Marcello Arca, the Italian and European Working Group on Lomitapide in HoFH, Maurizio Averna, Eric Boersma, Katia Bonomo, Marco Bucci, Laura Calabresi, Paolo Calabrò, Angelo Baldassare Cefalù, Jaimini Cegla, Arturo Cesaro, Sergio D’Addato, Eugene Daphnis, Maria Donata Di Taranto, Avishay Ellis, Fabio Fimiani, Giuliana Fortunato, Marco Gentile, Meral Kayikcioglu, Genovefa Kolovou, Evangelos Liberopoulos, Karin Littmann, Sergio Martínez-Hervás, Tiziana Montalcini, Fabio Nota, Livia Pisciotta, Arturo Puja, Giovanni José Real, Jeanine Roeters van Lennep, Joost Rutten, Carlo Sabbà, Tiziana Sampietro, Francesco Sbrana, Kim Steward, Fulvio Ventura, Battista Vigna, Shahenaz Walji
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: Real-world study, rare disease, autosomal recessive hypercholesterolaemia, LDL-C, lomitapide, long-term, Genetics, QH426-470
الوصف: Backgroundand aim: Autosomal recessive hypercholesterolemia (ARH) is a rare autosomal recessive disorder of low-density lipoprotein (LDL) metabolism caused by pathogenic variants in the LDLRAP1 gene. Like homozygous familial hypercholesterolemia, ARH is resistant to conventional LDL-lowering medications and causes a high risk of atherosclerotic cardiovascular diseases (ASCVDs) and aortic valve stenosis. Lomitapide is emerging as an efficacious therapy in classical HoFH, but few data are available for ARH.Results: This is a subanalysis carried out on nine ARH patients included in the Pan-European Lomitapide Study. The age at starting lomitapide was 46 (interquartile range (IQR), 39.0–65.5) years, with a median treatment duration of 31.0 (IQR 14.0–40.5) months. At baseline, four (44.4%) patients had hypertension, one (11.1%) had diabetes mellitus, two (22.2%) were active smokers, and five (55.5%) reported ASCVD. The baseline LDL-C was 257.0 (IQR, 165.3–309.2) mg/dL. All patients were on statins plus ezetimibe, three were receiving Lipoprotein apheresis (LA), and one was also receiving proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i). The addition of lomitapide (mean dose, 10 mg) resulted in the achievement of a median on-treatment LDL-C of 101.7 mg/dL (IQR, 71.3–138.3; 60.4% reduction from baseline), with a best LDL-C value of 68.0 mg/dL (IQR, 43.7–86.7; 73.5% reduction from baseline). During follow-up, one patient stopped both PCSK9i and LA. Recurrence of ASCVD events was reported in one patient. The median on-treatment aspartate transaminase and alanine transaminase values were 31.1 (IQR, 22.6–48.3) U/L and 31.1 (IQR, 27.2–53.8) U/L, respectively. Among six ARH patients with available fibroscan examination, liver stiffness values recorded at the last visit were within the normal range (median, 4.7 KPa; IQR, 3.6–5.3 KPa).Conclusion: Lomitapide is effective and safe in ARH therapy as well as in classical HoFH.
وصف الملف: electronic resource
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