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366 KB  
Article
Health Pedagogy and Narrative-based Strategies to Promote Healthy Eating Behaviours and Prevent Obesity in Schoolchildren: an Experimental Protocol Designed in Salento
by Manuela Pulimeno, Prisco Piscitelli, Giuseppina Pacella, Emanuele Rizzo, Biagio Galante and Salvatore Colazzo
J. Interdiscip. Res. Appl. Med. 2019, 3(2), 39-44; https://doi.org/10.1285/i25327518v3i2p39 - 31 Dec 2019
Viewed by 176
Abstract
Overweight and obesity in paediatric population are becoming serious public health problems, reaching epidemic proportions in the world and being recognized as the “new pandemic of the twenty first century”. Food choices and nutritional habits are strictly linked to the cultural dimension of [...] Read more.
Overweight and obesity in paediatric population are becoming serious public health problems, reaching epidemic proportions in the world and being recognized as the “new pandemic of the twenty first century”. Food choices and nutritional habits are strictly linked to the cultural dimension of communities and symbolic representations of food. Even in Italy, young generations are moving away from the culture of Mediterranean Diet (MD) – rec-ognized as Intangible Heritage of Humanity by UNESCO – being at risk of losing both their identity and the health benefits associated with MD. In this frame, health pedagogy (i.e. nutritional education) can play a funda-mental role in promoting the adoption of healthy eating behaviours since childhood, addressing at the same time such crucial binomials as food-health and environment-sustainability. In the last decades, a huge variety of school-based obesity prevention programs have been introduced. Among those, according to scientific evidence, narrative-based strategies may be helpful in promoting healthy nutritional habits among schoolchildren. Actually, narration is a useful tool in didactic practice, impacting on the emotional and motivational dimension of learning, thus represent-ing a valuable vehicle of health contents. On these bases, as DREAM Laboratory of Health Peda-gogy, we have proposed to the Department of Prevention of the Local Health Authority ASL Lecce – specifi-cally involving the Food Hygiene and Nutrition Service (SIAN) – to implement a research protocol aimed at as-sessing if narrative-based strategies could be more effective than other educational approaches in promoting the adoption of healthy eating behaviours among schoolchildren. Full article
382 KB  
Article
E-Health: lacking financial resources and health quality production
by Mariaconcetta Mangia
J. Interdiscip. Res. Appl. Med. 2019, 3(2), 31-38; https://doi.org/10.1285/i25327518v3i2p31 - 31 Dec 2019
Abstract
The health sector is being studied as an object of individual interest with that of society, in order to pursue equity without sacrificing efficiency, citizens of different Italian regions can access services that are equal in quantity and quality. In health care, the [...] Read more.
The health sector is being studied as an object of individual interest with that of society, in order to pursue equity without sacrificing efficiency, citizens of different Italian regions can access services that are equal in quantity and quality. In health care, the problem from the economic point of view is relevant as the health needs are infinite, while resources are limited and scarce. In the field of health, the objectives have evolved, passing from the elimination of infectious diseases to the ex-tension of life. The World Health Organization defines health as a right to be counted among other fun-damental rights that belong to people. The analysis of the work carried out focuses on the concept of healthcare seen through the eyes of economists, of how to deal with the fundamental economic questions of what, how and for whom to produce dictated by the distance between need and resources that drives the search for greater productivity and fair re source allocation systems; discussing the need and expectations for public health intervention. The Italian Health Service has founded its origins on the recognition of health as an individual right linked to cit-izenship and as a collective asset to be protected. The financing is based on the principle of the welfare state, which connects the payment to the contribution capacity and the use of services to anyone who manifests a need within the Italian territory. Since the beginning of the 1990s, a process of reorganization of the health system was initiated, which was main-ly oriented towards the research and improvement of tools for assessing the quality perceived by the user. The search for tools that can reduce as much as possible the inconvenience that the citizen may encounter in contact with highly bureaucratic systems and structures such as health care tend to be. The socio-demographic evolution of the population and the need to balance the available resources with the quality of the healthcare provided, require the definition of new ways of providing health services. In the field of public health, a growing demand for quality in the provision of care and assistance services has intensified in re-cent years. The increase in interfaces between telematic networks and health and social services is part of the general transformation process of world society due to the progressive increase in the degree of use of ICT ser vices. The improvement of the quality of health services concerns the management of total quality understood as the management process aimed at establishing the organizational activities that allow the improvement of overall performance. The success of the organization lies in the continuous and careful communication of the needs related to health by users caused by bad lifestyles, therefore prevention and socio-health policies should reduce the probability of citizens getting sick. From the analysis carried out, the proposal that is made is that the mission assigned to hospitals on the basis of their classification allows users to be "empowered" to health-related problems without compromising the princi-ples of effectiveness, legal efficiency and health law. If the goal of our communities is to improve the health level of the population, it is important to promote health policies not only in terms of health services, but also aimed at removing or in any case reducing the impact of a series of risk factors. Therefore, it is hoped that future health policies will increasingly target individual and social risk factors, with health interventions also in sectors such as education, working conditions, transport and nutrition. Full article
643 KB  
Article
Mounier Kuhn Syndrome
by Silvio Stomeo
J. Interdiscip. Res. Appl. Med. 2019, 3(2), 27-30; https://doi.org/10.1285/i25327518v3i2p27 - 31 Dec 2019
Viewed by 199
Abstract
Mounier Kuhn syndrome or tracheobronchomegaly is characterized by a marked dilatation of the trachea and main bronchi that can extend to the periphery of the lungs. Dilation is due to an alteration of the cartilaginous and membranous structure of the trachea and bronchi. [...] Read more.
Mounier Kuhn syndrome or tracheobronchomegaly is characterized by a marked dilatation of the trachea and main bronchi that can extend to the periphery of the lungs. Dilation is due to an alteration of the cartilaginous and membranous structure of the trachea and bronchi. It is a pathology much more frequent in men. The ae-tiology is unclear. The clinical case in question concerns a 67-year-old man who has reported recurrent epi-sodes of bronchopulmonary infections and hemoptysis, after undergoing instrumental investigations (fi-brobroncoscopy and chest CT), the diagnosis of Tracheobroncomegalia or Mounier Kuhn syndrome was formu-lated. Full article
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500 KB  
Article
The Phonetics of Speech Production and Medical Research
by Barbara Gili Fivela, Mirko Grimaldi, Francesco Sigona and Sonia d’Apolito
J. Interdiscip. Res. Appl. Med. 2019, 3(2), 17-26; https://doi.org/10.1285/i25327518v3i2p17 - 31 Dec 2019
Viewed by 218
Abstract
The production of speech requires the interplay of a number of cognitive and motoric activities, which make it an interesting object of study from both a linguistic and a medical point of view. In this paper, we discuss, first, the features and domain [...] Read more.
The production of speech requires the interplay of a number of cognitive and motoric activities, which make it an interesting object of study from both a linguistic and a medical point of view. In this paper, we discuss, first, the features and domain of application of the most used technologies in linguistic research on speech produc-tion, focusing on those that have been applied to medicine. Second, we offer an insight into the main results that have been obtained so far in studying dysarthria in Italian Parkinson’s Disease, as an example of the interdiscipli-nary, experimental research at the border between linguistics and medicine. Full article
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471 KB  
Article
Obstructive Sleep Apnea (OSA), an emerging health problem
by Luana Conte, Domenico Maurizio Toraldo, Michele Mariano Arigliani, Marco Greco, Michele Maffia and Michele De Benedetto
J. Interdiscip. Res. Appl. Med. 2019, 3(2), 7-16; https://doi.org/10.1285/i25327518v3i2p7 - 31 Dec 2019
Abstract
Obstructive Sleep Apnea (OSA) is the most common respiratory disorder in Western societies: according to a first recent worldwide epidemiological study, it was estimated that 936 million patients aged 30-69 years with mild to moderate OSA and 425 million patients aged 30-69 years [...] Read more.
Obstructive Sleep Apnea (OSA) is the most common respiratory disorder in Western societies: according to a first recent worldwide epidemiological study, it was estimated that 936 million patients aged 30-69 years with mild to moderate OSA and 425 million patients aged 30-69 years with severe OSA requiring CPAP treatment. Recently, the Centre for Research on Health and Social Care Management (CERGAS) at the Bocconi University of Milan has estimated that in Italy, the prevalence of moderate to severe OSA occurs in the 27% of the general population, with an overall prevalence of mild to medium-severe OSA of more than 24 million people aged be-tween 15 and 74 years (54% of the adult population), while from a practical point of view, Italian doctors diag-nosed only 460.000 moderate-severe patients (4 per cent of the estimated prevalence) and 230,000 patients were treated (2 per cent of the estimated prevalence), highlighting a substantial gap between diagnosis and treatment. In addition, OSA patients are often obese and the close correlation between the two conditions suggests that the prevalence of OSA will increase in the short term as obesity increases. At the individual level, OSA leads to a significant decrease in quality of life (HRQoL) and intellectual and mechanical/functional capacities with reduced physical activity, as well as a marked increase in sudden death and risk of cardiovascular and metabolic diseases. Emerging epidemiological data also suggest that the severity of OSA associated with the severity of chronic noc-turnal hypoxemia (CIH) correlates with an increased risk of diabetes mellitus, metabolic syndrome (MS) and can-cer. OSA is also an important risk factor for high blood pressure, acute and chronic atrial fibrillation (FAC), chronic coronary artery disease (CAD) and stroke. It is therefore intuitive that at the social level, OSA also leads to a decline in economic productivity. This article addresses OSA from a new epidemiological perspective, according to the latest prevalence studies, and addresses emerging problems related to the diagnosis. Full article
7 pages, 649 KB  
Proceeding Paper
Impacts of Extreme Climatic Events on the Agricultural and Forestry Systems—Project Impecaf
by Sofia Râmoa, Célia M. Gouveia, Inês Vieira, Patricia Páscoa, Catarina Alonso, Pedro Oliveira e Silva and Ana Russo
Proceedings 2019, 38(1), 11; https://doi.org/10.3390/proceedings2019038011 - 31 Dec 2019
Viewed by 1651
Abstract
The IMPECAF is a research project that started at the end of 2018 and aims to deepen the knowledge on weather extremes, particularly droughts and heat waves, which affect agricultural and forest ecosystems of the Iberian Peninsula. Despite these events presenting different temporal [...] Read more.
The IMPECAF is a research project that started at the end of 2018 and aims to deepen the knowledge on weather extremes, particularly droughts and heat waves, which affect agricultural and forest ecosystems of the Iberian Peninsula. Despite these events presenting different temporal scales, their simultaneous occurrence can intensify the observed impacts. In addition, these impacts may extend over large areas affecting different ecosystems. This project aims at transferring knowledge on fundamental research in meteorology for the agricultural and forestry sectors, and it is expected that the results may be an input in the decision-making process of farmers. To achieve this aim, appropriate measures will be developed to mitigate the impact of these extreme weather events in the forestry and agricultural sectors. This will be followed by an approach that ensures the involvement of stakeholders since the beginning of the project and even after its conclusion. Full article
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16 pages, 1559 KB  
Article
N-Butyldeoxygalactonojirimycin Induces Reversible Infertility in Male CD Rats
by Vijayalaxmi Gupta, Sheri A. Hild, Sudhakar R. Jakkaraj, Erick J. Carlson, Henry L. Wong, C. Leigh Allen, Gunda I. Georg and Joseph S. Tash
Int. J. Mol. Sci. 2020, 21(1), 301; https://doi.org/10.3390/ijms21010301 - 31 Dec 2019
Cited by 8 | Viewed by 5220
Abstract
This study shows for the first time that an iminosugar exerts anti-spermiogenic effect, inducing reversible infertility in a species that is not related to C57BL/6 male mice. In CD rats, N-butyldeoxygalactonojirimycin (NB-DGJ) caused reversible infertility at 150 mg/kg/day when administered [...] Read more.
This study shows for the first time that an iminosugar exerts anti-spermiogenic effect, inducing reversible infertility in a species that is not related to C57BL/6 male mice. In CD rats, N-butyldeoxygalactonojirimycin (NB-DGJ) caused reversible infertility at 150 mg/kg/day when administered daily as single oral dose. NB-DGJ inhibited CD rat-derived testicular β-glucosidase 2 (GBA2) activity at 10 µM but did not inhibit CD rat-derived testicular ceramide-specific glucosyltransferase (CGT) at doses up to 1000 µM. Pharmacokinetic studies revealed that sufficient plasma levels of NB-DGJ (50 µM) were achieved to inhibit the enzyme. Fertility was blocked after 35 days of treatment and reversed one week after termination of treatment. The rapid return of fertility indicates that the major effect of NB-DGJ may be epididymal rather than testicular. Collectively, our in vitro and in vivo studies in rats suggest that iminosugars should continue to be pursued as potential lead compounds for development of oral, non-hormonal male contraceptives. The study also adds evidence that GBA2, and not CGT, is the major target for the contraceptive effect of iminosugars. Full article
(This article belongs to the Special Issue Advances in Molecular Regulation of Spermatozoa Function)
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17 pages, 2670 KB  
Article
The Temperature-Dependent Retention of Introns in GPI8 Transcripts Contributes to a Drooping and Fragile Shoot Phenotype in Rice
by Bo Zhao, Yongyan Tang, Baocai Zhang, Pingzhi Wu, Meiru Li, Xinlan Xu, Guojiang Wu, Huawu Jiang and Yaping Chen
Int. J. Mol. Sci. 2020, 21(1), 299; https://doi.org/10.3390/ijms21010299 - 31 Dec 2019
Cited by 89 | Viewed by 3951
Abstract
Attachment of glycosylphosphatidylinositols (GPIs) to the C-termini of proteins is one of the most common posttranslational modifications in eukaryotic cells. GPI8/PIG-K is the catalytic subunit of the GPI transamidase complex catalyzing the transfer en bloc GPI to proteins. In this study, a T-DNA [...] Read more.
Attachment of glycosylphosphatidylinositols (GPIs) to the C-termini of proteins is one of the most common posttranslational modifications in eukaryotic cells. GPI8/PIG-K is the catalytic subunit of the GPI transamidase complex catalyzing the transfer en bloc GPI to proteins. In this study, a T-DNA insertional mutant of rice with temperature-dependent drooping and fragile (df) shoots phenotype was isolated. The insertion site of the T-DNA fragment was 879 bp downstream of the stop codon of the OsGPI8 gene, which caused introns retention in the gene transcripts, especially at higher temperatures. A complementation test confirmed that this change in the OsGPI8 transcripts was responsible for the mutant phenotype. Compared to control plants, internodes of the df mutant showed a thinner shell with a reduced cell number in the transverse direction, and an inhomogeneous secondary wall layer in bundle sheath cells, while many sclerenchyma cells at the tops of the main veins of df leaves were shrunken and their walls were thinner. The df plants also displayed a major reduction in cellulose and lignin content in both culms and leaves. Our data indicate that GPI anchor proteins play important roles in biosynthesis and accumulation of cell wall material, cell shape, and cell division in rice. Full article
(This article belongs to the Section Molecular Biology)
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21 pages, 2733 KB  
Review
Melatonin Promotes Uterine and Placental Health: Potential Molecular Mechanisms
by Luiz Gustavo de Almeida Chuffa, Luiz Antonio Lupi, Maira Smaniotto Cucielo, Henrique Spaulonci Silveira, Russel J. Reiter and Fábio Rodrigues Ferreira Seiva
Int. J. Mol. Sci. 2020, 21(1), 300; https://doi.org/10.3390/ijms21010300 - 31 Dec 2019
Cited by 99 | Viewed by 15989
Abstract
The development of the endometrium is a cyclic event tightly regulated by hormones and growth factors to coordinate the menstrual cycle while promoting a suitable microenvironment for embryo implantation during the “receptivity window”. Many women experience uterine failures that hamper the success of [...] Read more.
The development of the endometrium is a cyclic event tightly regulated by hormones and growth factors to coordinate the menstrual cycle while promoting a suitable microenvironment for embryo implantation during the “receptivity window”. Many women experience uterine failures that hamper the success of conception, such as endometrium thickness, endometriosis, luteal phase defects, endometrial polyps, adenomyosis, viral infection, and even endometrial cancer; most of these disturbances involve changes in endocrine components or cell damage. The emerging evidence has proven that circadian rhythm deregulation followed by low circulating melatonin is associated with low implantation rates and difficulties to maintain pregnancy. Given that melatonin is a circadian-regulating hormone also involved in the maintenance of uterine homeostasis through regulation of numerous pathways associated with uterine receptivity and gestation, the success of female reproduction may be dependent on the levels and activity of uterine and placental melatonin. Based on the fact that irregular production of maternal and placental melatonin is related to recurrent spontaneous abortion and maternal/fetal disturbances, melatonin replacement may offer an excellent opportunity to restore normal physiological function of the affected tissues. By alleviating oxidative damage in the placenta, melatonin favors nutrient transfer and improves vascular dynamics at the uterine–placental interface. This review focuses on the main in vivo and in vitro functions of melatonin on uterine physiological processes, such as decidualization and implantation, and also on the feto-maternal tissues, and reviews how exogenous melatonin functions from a mechanistic standpoint to preserve the organ health. New insights on the potential signaling pathways whereby melatonin resists preeclampsia and endometriosis are further emphasized in this review. Full article
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22 pages, 395 KB  
Article
Targeting the 16S rRNA Gene for Bacterial Identification in Complex Mixed Samples: Comparative Evaluation of Second (Illumina) and Third (Oxford Nanopore Technologies) Generation Sequencing Technologies
by Raf Winand, Bert Bogaerts, Stefan Hoffman, Loïc Lefevre, Maud Delvoye, Julien Van Braekel, Qiang Fu, Nancy HC Roosens, Sigrid CJ De Keersmaecker and Kevin Vanneste
Int. J. Mol. Sci. 2020, 21(1), 298; https://doi.org/10.3390/ijms21010298 - 31 Dec 2019
Cited by 189 | Viewed by 22314
Abstract
Rapid, accurate bacterial identification in biological samples is an important task for microbiology laboratories, for which 16S rRNA gene Sanger sequencing of cultured isolates is frequently used. In contrast, next-generation sequencing does not require intermediate culturing steps and can be directly applied on [...] Read more.
Rapid, accurate bacterial identification in biological samples is an important task for microbiology laboratories, for which 16S rRNA gene Sanger sequencing of cultured isolates is frequently used. In contrast, next-generation sequencing does not require intermediate culturing steps and can be directly applied on communities, but its performance has not been extensively evaluated. We present a comparative evaluation of second (Illumina) and third (Oxford Nanopore Technologies (ONT)) generation sequencing technologies for 16S targeted genomics using a well-characterized reference sample. Different 16S gene regions were amplified and sequenced using the Illumina MiSeq, and analyzed with Mothur. Correct classification was variable, depending on the region amplified. Using a majority vote over all regions, most false positives could be eliminated at the genus level but not the species level. Alternatively, the entire 16S gene was amplified and sequenced using the ONT MinION, and analyzed with Mothur, EPI2ME, and GraphMap. Although >99% of reads were correctly classified at the genus level, up to ≈40% were misclassified at the species level. Both technologies, therefore, allow reliable identification of bacterial genera, but can potentially misguide identification of bacterial species, and constitute viable alternatives to Sanger sequencing for rapid analysis of mixed samples without requiring any culturing steps. Full article
(This article belongs to the Special Issue In Silico Analyses: Translating and Making Sense of Omics Data)
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20 pages, 4001 KB  
Article
Characterization of a Maltase from an Early-Diverged Non-Conventional Yeast Blastobotrys adeninivorans
by Triinu Visnapuu, Aivar Meldre, Kristina Põšnograjeva, Katrin Viigand, Karin Ernits and Tiina Alamäe
Int. J. Mol. Sci. 2020, 21(1), 297; https://doi.org/10.3390/ijms21010297 - 31 Dec 2019
Cited by 11 | Viewed by 6237
Abstract
Genome of an early-diverged yeast Blastobotrys (Arxula) adeninivorans (Ba) encodes 88 glycoside hydrolases (GHs) including two α-glucosidases of GH13 family. One of those, the rna_ARAD1D20130g-encoded protein (BaAG2; 581 aa) was overexpressed in Escherichia coli, purified [...] Read more.
Genome of an early-diverged yeast Blastobotrys (Arxula) adeninivorans (Ba) encodes 88 glycoside hydrolases (GHs) including two α-glucosidases of GH13 family. One of those, the rna_ARAD1D20130g-encoded protein (BaAG2; 581 aa) was overexpressed in Escherichia coli, purified and characterized. We showed that maltose, other maltose-like substrates (maltulose, turanose, maltotriose, melezitose, malto-oligosaccharides of DP 4‒7) and sucrose were hydrolyzed by BaAG2, whereas isomaltose and isomaltose-like substrates (palatinose, α-methylglucoside) were not, confirming that BaAG2 is a maltase. BaAG2 was competitively inhibited by a diabetes drug acarbose (Ki = 0.8 µM) and Tris (Ki = 70.5 µM). BaAG2 was competitively inhibited also by isomaltose-like sugars and a hydrolysis product—glucose. At high maltose concentrations, BaAG2 exhibited transglycosylating ability producing potentially prebiotic di- and trisaccharides. Atypically for yeast maltases, a low but clearly recordable exo-hydrolytic activity on amylose, amylopectin and glycogen was detected. Saccharomyces cerevisiae maltase MAL62, studied for comparison, had only minimal ability to hydrolyze these polymers, and its transglycosylating activity was about three times lower compared to BaAG2. Sequence identity of BaAG2 with other maltases was only moderate being the highest (51%) with the maltase MalT of Aspergillus oryzae. Full article
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36 pages, 5006 KB  
Review
Bridging the Gap” Everything that Could Have Been Avoided If We Had Applied Gender Medicine, Pharmacogenetics and Personalized Medicine in the Gender-Omics and Sex-Omics Era
by Donato Gemmati, Katia Varani, Barbara Bramanti, Roberta Piva, Gloria Bonaccorsi, Alessandro Trentini, Maria Cristina Manfrinato, Veronica Tisato, Alessandra Carè and Tiziana Bellini
Int. J. Mol. Sci. 2020, 21(1), 296; https://doi.org/10.3390/ijms21010296 - 31 Dec 2019
Cited by 99 | Viewed by 12704
Abstract
Gender medicine is the first step of personalized medicine and patient-centred care, an essential development to achieve the standard goal of a holistic approach to patients and diseases. By addressing the interrelation and integration of biological markers (i.e., sex) with indicators of psychological/cultural [...] Read more.
Gender medicine is the first step of personalized medicine and patient-centred care, an essential development to achieve the standard goal of a holistic approach to patients and diseases. By addressing the interrelation and integration of biological markers (i.e., sex) with indicators of psychological/cultural behaviour (i.e., gender), gender medicine represents the crucial assumption for achieving the personalized health-care required in the third millennium. However, ‘sex’ and ‘gender’ are often misused as synonyms, leading to frequent misunderstandings in those who are not deeply involved in the field. Overall, we have to face the evidence that biological, genetic, epigenetic, psycho-social, cultural, and environmental factors mutually interact in defining sex/gender differences, and at the same time in establishing potential unwanted sex/gender disparities. Prioritizing the role of sex/gender in physiological and pathological processes is crucial in terms of efficient prevention, clinical signs’ identification, prognosis definition, and therapy optimization. In this regard, the omics-approach has become a powerful tool to identify sex/gender-specific disease markers, with potential benefits also in terms of socio-psychological wellbeing for each individual, and cost-effectiveness for National Healthcare systems. “Being a male or being a female” is indeed important from a health point of view and it is no longer possible to avoid “sex and gender lens” when approaching patients. Accordingly, personalized healthcare must be based on evidence from targeted research studies aimed at understanding how sex and gender influence health across the entire life span. The rapid development of genetic tools in the molecular medicine approaches and their impact in healthcare is an example of highly specialized applications that have moved from specialists to primary care providers (e.g., pharmacogenetic and pharmacogenomic applications in routine medical practice). Gender medicine needs to follow the same path and become an established medical approach. To face the genetic, molecular and pharmacological bases of the existing sex/gender gap by means of omics approaches will pave the way to the discovery and identification of novel drug-targets/therapeutic protocols, personalized laboratory tests and diagnostic procedures (sex/gender-omics). In this scenario, the aim of the present review is not to simply resume the state-of-the-art in the field, rather an opportunity to gain insights into gender medicine, spanning from molecular up to social and psychological stances. The description and critical discussion of some key selected multidisciplinary topics considered as paradigmatic of sex/gender differences and sex/gender inequalities will allow to draft and design strategies useful to fill the existing gap and move forward. Full article
(This article belongs to the Special Issue Gender Medicine: Pharmacogenetics and Personalised Medicine)
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15 pages, 1451 KB  
Article
Granulosa-Lutein Cell Sirtuin Gene Expression Profiles Differ between Normal Donors and Infertile Women
by Rebeca González-Fernández, Rita Martín-Ramírez, Deborah Rotoli, Jairo Hernández, Frederick Naftolin, Pablo Martín-Vasallo, Angela Palumbo and Julio Ávila
Int. J. Mol. Sci. 2020, 21(1), 295; https://doi.org/10.3390/ijms21010295 - 31 Dec 2019
Cited by 29 | Viewed by 6790
Abstract
Sirtuins are a family of deacetylases that modify structural proteins, metabolic enzymes, and histones to change cellular protein localization and function. In mammals, there are seven sirtuins involved in processes like oxidative stress or metabolic homeostasis associated with aging, degeneration or cancer. We [...] Read more.
Sirtuins are a family of deacetylases that modify structural proteins, metabolic enzymes, and histones to change cellular protein localization and function. In mammals, there are seven sirtuins involved in processes like oxidative stress or metabolic homeostasis associated with aging, degeneration or cancer. We studied gene expression of sirtuins by qRT-PCR in human mural granulosa-lutein cells (hGL) from IVF patients in different infertility diagnostic groups and in oocyte donors (OD; control group). Study 1: sirtuins genes’ expression levels and correlations with age and IVF parameters in women with no ovarian factor. We found significantly higher expression levels of SIRT1, SIRT2 and SIRT5 in patients ≥40 years old than in OD and in women between 27 and 39 years old with tubal or male factor, and no ovarian factor (NOF). Only SIRT2, SIRT5 and SIRT7 expression correlated with age. Study 2: sirtuin genes’ expression in women poor responders (PR), endometriosis (EM) and polycystic ovarian syndrome. Compared to NOF controls, we found higher SIRT2 gene expression in all diagnostic groups while SIRT3, SIRT5, SIRT6 and SIRT7 expression were higher only in PR. Related to clinical parameters SIRT1, SIRT6 and SIRT7 correlate positively with FSH and LH doses administered in EM patients. The number of mature oocytes retrieved in PR is positively correlated with the expression levels of SIRT3, SIRT4 and SIRT5. These data suggest that cellular physiopathology in PR’s follicle may be associated with cumulative DNA damage, indicating that further studies are necessary. Full article
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23 pages, 1578 KB  
Review
L-DOPA in Parkinson’s Disease: Looking at the “False” Neurotransmitters and Their Meaning
by Abdeslam Chagraoui, Marie Boulain, Laurent Juvin, Youssef Anouar, Grégory Barrière and Philippe De Deurwaerdère
Int. J. Mol. Sci. 2020, 21(1), 294; https://doi.org/10.3390/ijms21010294 - 31 Dec 2019
Cited by 84 | Viewed by 16872
Abstract
L-3,4-dihydroxyphenylalanine (L-DOPA) has been successfully used in the treatment of Parkinson’s disease (PD) for more than 50 years. It fulfilled the criteria to cross the blood–brain barrier and counteract the biochemical defect of dopamine (DA). It remarkably worked after some adjustments in [...] Read more.
L-3,4-dihydroxyphenylalanine (L-DOPA) has been successfully used in the treatment of Parkinson’s disease (PD) for more than 50 years. It fulfilled the criteria to cross the blood–brain barrier and counteract the biochemical defect of dopamine (DA). It remarkably worked after some adjustments in line with the initial hypothesis, leaving a poor place to the plethora of mechanisms involving other neurotransmitters or mechanisms of action beyond newly synthesized DA itself. Yet, its mechanism of action is far from clear. It involves numerous distinct cell populations and does not mimic the mechanism of action of dopaminergic agonists. L-DOPA-derived DA is mainly released by serotonergic neurons as a false neurotransmitter, and serotonergic neurons are involved in L-DOPA-induced dyskinesia. The brain pattern and magnitude of DA extracellular levels together with this status of false neurotransmitters suggest that the striatal effects of DA via this mechanism would be minimal. Other metabolic products coming from newly formed DA or through the metabolism of L-DOPA itself could be involved. These compounds can be trace amines and derivatives. They could accumulate within the terminals of the remaining monoaminergic neurons. These “false neurotransmitters,” also known for some of them as inducing an “amphetamine-like” mechanism, could reduce the content of biogenic amines in terminals of monoaminergic neurons, thereby impairing the exocytotic process of monoamines including L-DOPA-induced DA extracellular outflow. The aim of this review is to present the mechanism of action of L-DOPA with a specific attention to “false neurotransmission.” Full article
(This article belongs to the Special Issue Neurobiology Research in Parkinson's Disease)
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14 pages, 1581 KB  
Article
Docker4Circ: A Framework for the Reproducible Characterization of circRNAs from RNA-Seq Data
by Giulio Ferrero, Nicola Licheri, Lucia Coscujuela Tarrero, Carlo De Intinis, Valentina Miano, Raffaele Adolfo Calogero, Francesca Cordero, Michele De Bortoli and Marco Beccuti
Int. J. Mol. Sci. 2020, 21(1), 293; https://doi.org/10.3390/ijms21010293 - 31 Dec 2019
Cited by 9 | Viewed by 4725
Abstract
Recent improvements in cost-effectiveness of high-throughput technologies has allowed RNA sequencing of total transcriptomes suitable for evaluating the expression and regulation of circRNAs, a relatively novel class of transcript isoforms with suggested roles in transcriptional and post-transcriptional gene expression regulation, as well as [...] Read more.
Recent improvements in cost-effectiveness of high-throughput technologies has allowed RNA sequencing of total transcriptomes suitable for evaluating the expression and regulation of circRNAs, a relatively novel class of transcript isoforms with suggested roles in transcriptional and post-transcriptional gene expression regulation, as well as their possible use as biomarkers, due to their deregulation in various human diseases. A limited number of integrated workflows exists for prediction, characterization, and differential expression analysis of circRNAs, none of them complying with computational reproducibility requirements. We developed Docker4Circ for the complete analysis of circRNAs from RNA-Seq data. Docker4Circ runs a comprehensive analysis of circRNAs in human and model organisms, including: circRNAs prediction; classification and annotation using six public databases; back-splice sequence reconstruction; internal alternative splicing of circularizing exons; alignment-free circRNAs quantification from RNA-Seq reads; and differential expression analysis. Docker4Circ makes circRNAs analysis easier and more accessible thanks to: (i) its R interface; (ii) encapsulation of computational tasks into docker images; (iii) user-friendly Java GUI Interface availability; and (iv) no need of advanced bash scripting skills for correct use. Furthermore, Docker4Circ ensures a reproducible analysis since all its tasks are embedded into a docker image following the guidelines provided by Reproducible Bioinformatics Project. Full article
(This article belongs to the Special Issue Non-Coding RNA Biogenesis and Function)
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