Review
Clinical Neurology
Matteo Cataldi, Dario Arnaldi, Valter Tucci, Fabrizio De Carli, Giuseppa Patti, Flavia Napoli, Marta Pace, Mohamad Maghnie, Lino Nobili
Summary: Prader-Willi Syndrome is a genetic disorder that often presents with sleep disorders. This review emphasizes the pathophysiology and clinical features of sleep disorders in PWS, highlighting the significance of cerebrospinal fluid orexin levels.
SLEEP MEDICINE REVIEWS
(2021)
Article
Mathematical & Computational Biology
Ning Wu, Huan Yu, Mingze Xu
Summary: This study investigated alterations in brain nuclei in children with Prader-Willi syndrome (PWS). The results showed significant atrophy in the brain nuclei of these children, which were associated with the clinical manifestations of PWS.
FRONTIERS IN NEUROINFORMATICS
(2022)
Article
Biochemistry & Molecular Biology
Joanna Gajewska, Jadwiga Ambroszkiewicz, Katarzyna Szamotulska, Grazyna Rowicka, Malgorzata Strucinska, Witold Klemarczyk, Magdalena Chelchowska
Summary: This study found that non-obese children with Prader-Willi syndrome (PWS) have oxidative stress, with higher concentrations of total oxidant capacity (TOC) and oxidative stress index (OSI) compared to healthy children. The study also found positive associations between TOC values and the percentage of energy requirement, BMI Z-score, fat mass, and levels of leptin, nesfatin-1, and hepcidin in PWS patients. Adipokines such as leptin, nesfatin-1, or hepcidin may play a role in the prooxidant state in non-obese children with PWS.
Article
Neurosciences
Kenichi Yamada, Kiyotaka Suzuki, Masaki Watanabe
Summary: This study investigated the alterations in functional network architecture in individuals with Prader-Willi syndrome (PWS) and found that specific brain regions showed altered functional connectivity, which is consistent with their behavioral characteristics. The enhanced and attenuated connectivity in different frontal regions may not only be related to autistic features but also other behavioral characteristics.
BRAIN CONNECTIVITY
(2022)
Article
Biotechnology & Applied Microbiology
Kevin Liu, Xue-Jun Kong
Summary: This study aimed to evaluate the impact of oral probiotic supplementation on the salivary microbiota composition of individuals with PWS and its association with growth parameters and behavioral symptoms. The study found that the probiotic-treated group exhibited higher salivary microbiome alpha-diversity and certain microbial groups were associated with anti-inflammatory, anti-obesity, toxin degradation, and anti-oxidative injury effects. Additionally, some oral taxa were correlated with the severity of social behaviors.
PROBIOTICS AND ANTIMICROBIAL PROTEINS
(2022)
Article
Immunology
Yunyun Xu, Xu Hou, Honglin Guo, Zhenyu Yao, Xiude Fan, Chao Xu, Guimei Li, Yanzhou Wang, Yan Sun, Ling Gao, Yongfeng Song, Jiajun Zhao
Summary: Patients with Prader-Willi syndrome (PWS) show hyper-inflammatory state in their peripheral immune cells, characterized by increased CD16(+) monocytes. These monocytes transmit chemokine and cytokine signaling to drive inflammatory process in other cell types. This study provides insights into the characteristics of peripheral immune cells in PWS at the single cell level and suggests potential targets for immunotherapy in the future.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Psychology, Developmental
Maja Krefft, Dorota Frydecka, Gil Zalsman, Malgorzata Krzystek-Korpacka, Robert Smigiel, Katarzyna Gebura, Katarzyna Bogunia-Kubik, Blazej Misiak
Summary: Elevated levels of IL-1β and IL-13 are observed in patients with Prader-Willi syndrome, and are correlated with various psychopathological symptoms.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2021)
Article
Endocrinology & Metabolism
Alexandra E. Butler, Abu Saleh Md Moin, Zeljko Reiner, Thozhukat Sathyapalan, Tannaz Jamialahmadi, Amirhossein Sahebkar, Stephen L. Atkin
Summary: Proteomic analysis was conducted to investigate the mechanism of dyslipidemia in women with polycystic ovary syndrome (PCOS), and whether it is related to obesity and insulin resistance (IR) or intrinsic to PCOS. The analysis revealed altered levels of certain proteins associated with lipid metabolism in PCOS women, suggesting increased cardiovascular risk even in the absence of obesity and IR.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Nutrition & Dietetics
Xue-Jun Kong, Guobin Wan, Ruiyi Tian, Siyu Liu, Kevin Liu, Cullen Clairmont, Xiaojing Lin, Xiaoying Zhang, Hannah Sherman, Junli Zhu, Yelan Wang, Michelle Fong, Alice Li, Bryan K. Wang, Jinghan Wang, Jun Liu, Zhehao Yu, Chen Shen, Xianghua Cui, Hanyu Cao, Ting Du, Xia Cao
Summary: The study evaluated the effects of Bifidobacterium animalis subsp. lactis probiotics supplementation on patients with Prader-Willi syndrome, showing significant increase in height and improvement in CGI-I in the probiotics group compared to the placebo group. Probiotic treatment altered the microbiome composition to favor weight loss and gut health, indicating a potential therapeutic benefit in PWS patients.
FRONTIERS IN NUTRITION
(2021)
Article
Clinical Neurology
Assumpta Caixas, Laura Blanco-Hinojo, Jesus Pujol, Joan Deus, Olga Gimenez-Palop, David Torrents-Rodas, Ramon Coronas, Ramon Novell, Susanna Esteba-Castillo
Summary: The study found specific difficulties in motor praxis among individuals with Prader-Willi syndrome, with better constructional praxis performance but worse gesture imitation abilities compared to their intellectual disability peers. Increased gray matter volume in sensorimotor and subcortical regions was observed in PWS, but this was not directly linked to praxis performance, which instead correlated with regional volume measures in apparently normal brain areas.
JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
(2021)
Article
Genetics & Heredity
Sigrun Hope, Terje Naerland, Svein Olav Kolset, Thor Ueland, Ole A. Andreassen, Marianne Nordstrom
Summary: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental syndrome with increased risk of obesity and cardiovascular disease (CVD). In this study, levels of inflammatory markers were compared between PWS patients and healthy controls, revealing potential immune pathways involved in CVD.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Immunology
Teemu Niiranen, Iris Erlund, Sirpa Jalkanen, Antti Jula, Marko Salmi
Summary: Studies have suggested that high salt intake can affect leukocyte activation and T lymphocyte polarization, potentially contributing to the development of autoimmune diseases. However, clinically relevant changes in salt intake or diet do not seem to have an impact on the systemic concentrations of pro-inflammatory cytokines in humans.
EUROPEAN JOURNAL OF IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Kundi Yang, Mengyang Xu, Jingyi Cao, Qi Zhu, Monica Rahman, Britt A. Holmen, Naomi K. Fukagawa, Jiangjiang Zhu
Summary: The study demonstrated that exposure to UFPs may affect the gut microbial composition and metabolic function of obese mice, with different impacts observed between males and females. Additionally, the different fuel types used to generate UFPs had varying effects on the blood metabolites of the obese mice, showing disruption to the microbial metabolome.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
Luping Zhang, Jinwen Huang, Zhengxiang Zhang, Zhijian Cao
Summary: This study found distinct pathophysiological states between migraine patients during an attack (MWoA-DA) and those during the interictal period (MWoA-DI). Decreased glutathione/total creatine ratio (GSH/tCr) was observed in MWoA-DA patients, while lower total choline/total creatine ratio (tCho/tCr) was found in MWoA-DI patients. The GSH/tCr ratio was positively correlated with attack frequency in the MWoA-DI group, and the tCho/tCr ratio was positively correlated with attack frequency and MIDAS scores in the MWoA-DA group.
FRONTIERS IN NEUROLOGY
(2021)
Article
Oncology
Xiao-Jie Zhao, Liang-Chen Liu, Cui Guo, Wen-Wen Shen, Jia Cao, Fen Du, Dong-Fang Wu, Hong Yu
Summary: The study demonstrated that high-level PON1 improved dysfunctional HDL and alleviated the development of atherosclerosis in Scarb1(-/-) mice. It is suggested that PON1 represents a promising target for HDL-based therapeutic strategy in HDL-related atherosclerotic cardiovascular disease.
ANNALS OF TRANSLATIONAL MEDICINE
(2021)
Article
Food Science & Technology
Sofia Pugnaloni, Sonila Alia, Marcello Gabrielli, Alice Di Paolo, Imma Turco, Laura Mazzanti, Roberto Orsini, Arianna Vignini, Gianna Ferretti
Summary: This study evaluated the Glycaemic Index and polyphenol content of Senatore Cappelli pasta. The results showed that Senatore Cappelli pasta is rich in polyphenols and flavonoids, and the Glycaemic Index is influenced by the pasta shape. These findings provide valuable data for personalized diet planning.
INTERNATIONAL JOURNAL OF FOOD SCIENCES AND NUTRITION
(2022)
Article
Pathology
Md Obaidul Islam, Tiziana Bacchetti, Hicham Berrougui, Abdelouahed Khalil, Gianna Ferretti
Summary: Epidemiological studies suggest an association between diabetes mellitus and bladder cancer. Dysfunctional HDL in diabetes can promote bladder cancer cell proliferation and increase oxidative stress levels.
EXPERIMENTAL AND MOLECULAR PATHOLOGY
(2022)
Article
Food Science & Technology
Luisa Bellachioma, Gabriele Rocchetti, Camilla Morresi, Erika Martinelli, Luigi Lucini, Gianna Ferretti, Elisabetta Damiani, Tiziana Bacchetti
Summary: The aim of this study was to evaluate the functional and sensory traits of infusions from different brewing processes and saffron flower portions. Tepals showed higher polyphenol and flavonoid content compared to stamen infusions, and their content depended more on brewing temperature. Multivariate statistics highlighted polyphenols discriminating different brewing processes. Cold brewing successfully extracted phenolic compounds and provided better sensory properties.
INTERNATIONAL JOURNAL OF FOOD SCIENCE AND TECHNOLOGY
(2022)
Article
Medicine, General & Internal
Antonino Crino, Michela Armando, Marco Crostelli, Osvaldo Mazza, Dario Bruzzese, Alessio Convertino, Danilo Fintini, Sarah Bocchini, Sara Ciccone, Alessandro Sartorio, Graziano Grugni
Summary: This study investigated the characteristics of scoliosis in individuals with Prader-Willi syndrome (PWS) and found that the prevalence of scoliosis increases with age, highlighting the importance of regular monitoring for spinal deformities in PWS patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Chemistry, Medicinal
Camilla Morresi, Marzia Vasarri, Luisa Bellachioma, Gianna Ferretti, Donatella Degl'Innocenti, Tiziana Bacchetti
Summary: This study investigates the effects of Posidonia oceanica leaf extract (POE) on glucose transport, intestinal barrier integrity, and antioxidant protection in Caco-2 cells. The results show that POE decreases glucose uptake, improves barrier integrity, and has protective antioxidant effects.
Article
Medicine, General & Internal
Giorgio Radetti, Graziano Grugni, Fiorenzo Lupi, Antonio Fanolla, Diana Caroli, Adele Bondesan, Alessandro Sartorio
Summary: This study aimed to identify the simplest and most accurate predictive index for MetS in children and adolescents with severe obesity. The results showed that the TG/HDL ratio performed best in identifying MetS, surpassing other indexes in both complexity and accuracy.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Zahra Najafi Arab, Danial Khayatan, Seyed Mehrad Razavi, Kimia Zare, Elnaz Kheradkhah, Saeideh Momtaz, Gianna Ferretti, Tiziana Bacchetti, Thozhukat Sathyapalan, Seyed Ahmad Emami, Amir Hossein Abdolghaffari, Amirhossein Sahebkar
Summary: Chronic diseases such as cardiovascular disease, atherosclerosis, chronic liver disease, and neurodegenerative diseases are major causes of mortality, with oxidative stress and free radicals playing important roles in their development. Antioxidants, including paraoxonases (PONs), can scavenge free radicals and mitigate their adverse effects. Modulating the expression of PON1, an important antioxidant enzyme, can have beneficial effects in various diseases by regulating inflammatory and oxidative stress signaling pathways. Dietary factors can influence PON1 expression and activity, making them important for disease prevention and treatment.
Article
Biology
Claudia Dolci, Antonello E. Rigamonti, Annalisa Cappella, Daniele M. Gibelli, Graziano Grugni, Diana Caroli, Chiarella Sforza, Alessandro Sartorio
Summary: This study aimed to explore the relationships between facial dysmorphism in Prader-Willi syndrome (PWS) and clinical and biochemical markers of the disease and its treatment. It found that certain facial characteristics could serve as distinctive features for diagnosing PWS, while other facial characteristics showed associations with clinical and biochemical markers, suggesting their potential usefulness in the clinical monitoring and management of the disease. Further studies are needed to confirm these findings.
Article
Biochemistry & Molecular Biology
Tiziana Bacchetti, Roberto Campagna, Davide Sartini, Monia Cecati, Camilla Morresi, Luisa Bellachioma, Erika Martinelli, Gabriele Rocchetti, Luigi Lucini, Gianna Ferretti, Monica Emanuelli
Summary: The floral buds of C. spinosa subsp. rupestris contain polyphenols and glucosinolates that exhibit higher cytotoxicity and intracellular reactive oxygen species (ROS) production in cancer cells compared to normal cells. Upregulation of the expression of the enzyme PON2 was observed in cancer cells. This suggests that CSE may protect tumor cells from apoptosis induced by glucosinolates and polyphenols through the overexpression of PON2.
Article
Biochemistry & Molecular Biology
Angelica Giuliani, Camilla Morresi, Gabriele Mazzuferi, Luisa Bellachioma, Deborah Ramini, Jacopo Sabbatinelli, Fabiola Olivieri, Tiziana Bacchetti, Gianna Ferretti
Summary: Low-density lipoproteins (LDLs) play a crucial role in transporting cholesterol to tissues and their oxidative modification is a major risk factor for atherogenesis. This study aimed to investigate the effect of sphingomyelinase (SMase) treatment on LDL properties and its impact on human umbilical vein endothelial cells (HUVECs). The results showed that both ox-LDLs and SMase-LDLs increased intracellular reactive oxygen species (ROS) and upregulated the antioxidant enzyme Paraoxonase 2 (PON2). However, only SMase-LDLs induced the activation of the feedback loop enzyme superoxide dismutase 2 (SOD2) to counteract the detrimental effects of ROS. Furthermore, SMase-LDLs had a stronger pro-apoptotic and proinflammatory effect on HUVECs compared to ox-LDLs.
Article
Biochemistry & Molecular Biology
Camilla Morresi, Alessia Luccarini, Fabio Marcheggiani, Gianna Ferretti, Elisabetta Damiani, Tiziana Bacchetti
Summary: PON2, an intracellular protein, plays a protective role against cell oxidative stress and apoptosis. This study explored the modulation of PON2 in human dermal fibroblasts exposed to UVA radiation and found that PON2 is up-regulated immediately after UVA exposure and gradually decreases in the post-exposure phase. This upregulation may be related to the increase in intracellular reactive oxygen species (ROS) and could play an important role in mitigating UVA-induced damage and preventing the consequences of UV exposure.
CHEMICO-BIOLOGICAL INTERACTIONS
(2023)
Article
Biochemistry & Molecular Biology
Tiziana Bacchetti, Camilla Morresi, Gianna Ferretti, Anders Larsson, Torbjoern Akerfeldt, Michael Svensson
Summary: This study aimed to investigate the effects of exercise on HDL composition and functional properties in overweight/obese subjects. The results showed that exercise training improved HDL functionality in overweight/obese adults, without significant reduction in BMI or modifications of glucose and lipid biochemical parameters. The study also found a significant correlation between serum MPO/PON ratios, HDL redox activity and ox-LDLs.
Article
Chemistry, Multidisciplinary
Luisa Bellachioma, Emanuela Marini, Gloria Magi, Armanda Pugnaloni, Bruna Facinelli, Gabriele Rocchetti, Erika Martinelli, Luigi Lucini, Camilla Morresi, Tiziana Bacchetti, Gianna Ferretti
Summary: Several bioactive compounds with potential health-promoting properties were found in stigmas and tepals of Crocus sativus. The extracts from stigmas and tepals showed antibacterial and anti-biofilm properties against two important Gram-positive biofilm-forming human pathogens. The higher antibacterial activity of tepals compared to stigmas was associated with higher levels of phycompounds. Therefore, Crocus sativus could be used as functional ingredient by the food and pharmaceutical industries.