Roberta Pintus - Academia.edu (original) (raw)
Papers by Roberta Pintus
Current Pediatric Reviews, Apr 11, 2023
: To date, the complex picture of atopic dermatitis (AD) has not yet been fully clarified, despit... more : To date, the complex picture of atopic dermatitis (AD) has not yet been fully clarified, despite the important prevalence of this disease in the pediatric population (20%) and the possibility of persistence into adulthood, with important implications for the quality of life of those affected, as well as significant social and financial costs. The most recent scientific evidence suggests a new interpretation of AD, highlighting the important role of the environment, particularly that of nutrition in the early stages of development. In fact, the new indications seem to point out the harmful effect of elimination diets, except in rare cases, the uselessness of chrono-insertions during complementary feeding and some benefits, albeit weak, of breastfeeding in those at greater risk. In this context, metabolomics and lipidomics can be necessary for a more in-depth knowledge of the complex metabolic network underlying this pathology. In fact, an alteration of the metabolic contents in children with AD has been highlighted, especially in correlation to the intestinal microbiota. While preliminary lipidomic studies showed the usefulness of a more in-depth knowledge of the alterations of the skin barrier to improve the development of baby skin care products. Therefore, investigating the response of different allergic phenotypes could be useful for better patient management and understanding, thus providing an early intervention on dysbiosis necessary to regulate the immune response from the earliest stages of development.
DOAJ (DOAJ: Directory of Open Access Journals), Jul 1, 2021
OBJECTIVE The human being has evolved in close symbiosis with its own ecological community of com... more OBJECTIVE The human being has evolved in close symbiosis with its own ecological community of commensal, symbiotic and pathogenic bacteria. After the intestinal microbiome, that of the oral cavity is the largest and most diversified. Its importance is reflected not only in local and systemic diseases, but also in pregnancy since it would seem to influence the placental microbiome. MATERIALS AND METHODS This is a literature review of articles published in PubMed about Fusobacterium Nucleatum and both its implications with systemic and oral health, adverse pregnancy outcomes, flavors perception and its interference in the oral-nasal mucosal immunity. RESULTS It is in maintaining the microbiome's homeostasis that the Fusobacterium nucleatum, an opportunistic periodontal pathogen of the oral cavity, plays a crucial role both as a bridge microorganism of the tongue biofilm, and in maintaining the balance between the different species in the oral-nasal mucosal immunity also by taste receptors interaction. It is also involved in the flavor perception and its detection in the oral microbiome of children from the first days of life suggests a possible physiological role. However, the dysbiosis can determine its pathogenicity with local and systemic consequences, including the pathogenesis of respiratory infections. CONCLUSIONS It is interesting to evaluate its possible correlation with Sars-CoV-2 and the consequences on the microflora of the oral cavity, both to promote a possible broad-spectrum preventive action, in favor of all subjects for whom, by promoting the eubiosis of the oral microbiome, a defensive action could be envisaged by the commensals themselves but, above all, for patients with specific comorbidities and therefore already prone to oral dysbiosis.
Current Pediatric Reviews, Nov 5, 2020
Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is a clinical condition characterized by a... more Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is a clinical condition characterized by a sudden and dramatic obsessive-compulsive disorder with a recommended postinfectious immune-mediated etiology. This condition is accompanied by an extensive series of relatively serious neuropsychiatric symptoms. The diagnosis of PANS is made by "exclusion", as the individual PANS symptoms overlap with a multiplicity of psychiatric disorders with the onset in childhood. A number of researchers accumulated evidence to support the hypothesis that PANS was closely associated with a number of infections. In the last decade, metabolomics played an essential role in improving the knowledge of complex biological systems and identifying potential new biomarkers as indicators of pathological progressions or pharmacologic responses to therapy. The metabolome is considered the most predictive phenotype, capable of recognizing epigenetic differences, reflecting more closely the clinical reality at any given moment and thus providing extremely dynamic data. In the present work, the most recent hypothesis and suggested mechanisms of this condition are reviewed and the case of a 10year-old girl with PANS is described, before and after clarithromycin treatment. The main results of this case report are discussed from a metabolomics point of view. The alteration of several metabolic pathways concerning the microbial activity highlights the possible role of the microbiome in the development of PANS. Furthermore, different metabolic perturbations at the level of protein biosynthesis, energy and amino acid metabolisms are observed and discussed. Based on our observations, it is believed that metabolomics is a promising technology to unravel the mysteries of PANS in the near future.
Metabolites, Mar 11, 2023
The growing obesity epidemic in childhood is increasingly concerning for the related physical and... more The growing obesity epidemic in childhood is increasingly concerning for the related physical and psychological consequences, with a significant impact on health care costs in both the short and the long term. Nonetheless, the scientific community has not yet completely clarified the complex metabolic mechanisms underlying body weight alterations. In only a small percentage of cases, obesity is the result of endocrine, monogenic, or syndromic causes, while in much more cases, lifestyle plays a crucial role in obesity development. In this context, the pediatric age appears to be of considerable importance as prevention strategies together with early intervention can represent important therapeutic tools not only to counteract the comorbidities that increasingly affect children but also to hinder the persistence of obesity in adulthood. Although evidence in the literature supporting the alteration of the microbiota as a critical factor in the etiology of obesity is abundant, it is not yet fully defined and understood. However, increasingly clear evidence is emerging regarding the existence of differentiated metabolic profiles in obese children, with characteristic metabolites. The identification of specific pathology-related biomarkers and the elucidation of the altered metabolic pathways would therefore be desirable in order to clarify aspects that are still poorly understood, such as the consequences of the interaction between the host, the diet, and the microbiota. In fact, metabolomics can characterize the biological behavior of a specific individual in response to external stimuli, offering not only an eventual effective screening and prevention strategy but also the possibility of evaluating adherence and response to dietary intervention.
Current Pediatric Reviews
: To date, the complex picture of atopic dermatitis (AD) has not yet been fully clarified, despit... more : To date, the complex picture of atopic dermatitis (AD) has not yet been fully clarified, despite the important prevalence of this disease in the pediatric population (20%) and the possibility of persistence into adulthood, with important implications for the quality of life of those affected, as well as significant social and financial costs. The most recent scientific evidence suggests a new interpretation of AD, highlighting the important role of the environment, particularly that of nutrition in the early stages of development. In fact, the new indications seem to point out the harmful effect of elimination diets, except in rare cases, the uselessness of chrono-insertions during complementary feeding and some benefits, albeit weak, of breastfeeding in those at greater risk. In this context, metabolomics and lipidomics can be necessary for a more in-depth knowledge of the complex metabolic network underlying this pathology. In fact, an alteration of the metabolic contents in children with AD has been highlighted, especially in correlation to the intestinal microbiota. While preliminary lipidomic studies showed the usefulness of a more in-depth knowledge of the alterations of the skin barrier to improve the development of baby skin care products. Therefore, investigating the response of different allergic phenotypes could be useful for better patient management and understanding, thus providing an early intervention on dysbiosis necessary to regulate the immune response from the earliest stages of development.
Metabolites
The inborn errors of metabolism (IEMs or Inherited Metabolic Disorders) are a heterogeneous group... more The inborn errors of metabolism (IEMs or Inherited Metabolic Disorders) are a heterogeneous group of diseases caused by a deficit of some specific metabolic pathways. IEMs may present with multiple overlapping symptoms, sometimes difficult delayed diagnosis and postponed therapies. Additionally, many IEMs are not covered in newborn screening and the diagnostic profiling in the metabolic laboratory is indispensable to reach a correct diagnosis. In recent years, Metabolomics helped to obtain a better understanding of pathogenesis and pathophysiology of IEMs, by validating diagnostic biomarkers, discovering new specific metabolic patterns and new IEMs itself. The expansion of Metabolomics in clinical biochemistry and laboratory medicine has brought these approaches in clinical practice as part of newborn screenings, as an exam for differential diagnosis between IEMs, and evaluation of metabolites in follow up as markers of severity or therapies efficacy. Lastly, several research groups...
Metabolites
The growing obesity epidemic in childhood is increasingly concerning for the related physical and... more The growing obesity epidemic in childhood is increasingly concerning for the related physical and psychological consequences, with a significant impact on health care costs in both the short and the long term. Nonetheless, the scientific community has not yet completely clarified the complex metabolic mechanisms underlying body weight alterations. In only a small percentage of cases, obesity is the result of endocrine, monogenic, or syndromic causes, while in much more cases, lifestyle plays a crucial role in obesity development. In this context, the pediatric age appears to be of considerable importance as prevention strategies together with early intervention can represent important therapeutic tools not only to counteract the comorbidities that increasingly affect children but also to hinder the persistence of obesity in adulthood. Although evidence in the literature supporting the alteration of the microbiota as a critical factor in the etiology of obesity is abundant, it is not...
European review for medical and pharmacological sciences, 2019
Sportomics is the application of metabolomics in sports to investigate the metabolic effects of p... more Sportomics is the application of metabolomics in sports to investigate the metabolic effects of physical exercise on individuals, whether they are professional athletes or not. Metabolomics is one of the "omics" sciences that provide a picture of the metabolic state of a person in physiological or pathological conditions. This is achieved through the analysis of metabolites present in a biological fluid, such as saliva, blood, feces, and urine. The authors revised the recent literature concerning this topic and discussed the useful information that sportomics can provide and the limits of the current experimental settings. Furthermore, in the future, sportomics analyses could be used to prevent and manage injuries as it would be known in advance if an athlete is more prone to experience muscular damage or fatigue. Following more trials, it would also be possible to set the best diet and training programs to get the best performances out of the athletes. Moreover, based on ...
Introduction: Maternal obesity is associated with a lipotoxic placental environment that may dire... more Introduction: Maternal obesity is associated with a lipotoxic placental environment that may directly affect placental function and metabolism. Metabolomics is increasingly applied in maternal-fetal medicine for its clinical potential, by identifying specific metabolic profiles, mostly in bio-fluids such as blood, urine or amniotic fluid. This is the first preliminary study analyzing placental metabolomics in normal weight and obese pregnancies. Methods: Placentas at term were collected, washed and immediately frozen in liquid nitrogen at elective cesarean section from 20 normalweight (NW: BMI 18-25 kg/m2) and 18 obese (OB: BMI more than 30 kg/m2) women. Metabolites extraction method was optimized for hydrophilic and lipophilic phases, then analyzed by GC-MS. PLS-DA multivariate statistical analysis was applied. Results: Gestational age, fetal and placental weights were not significantly different between OB and NW.Lipophilic phase analysis in OB showed significantly lower levels of stearic acid and of the LC-PUFA derivatives DHA and arachidonic acid. Hydrophilic phase analysis revealed several metabolites allowing PLS-DA discrimination of data with significantly different levels in OB vs NW: increased glycerol, uracile, hypoxanthine, purine derivative, nicotinamide, glucose-6-P, 3-phosphoglycerate, tyrosine, isoleucine, phenylalanine, leucine, serine; decreased lysine, taurine, inosine, aspartic acid, inositol, gluconic acid, guanosine, glutamine. Conclusion: To our knowledge, this is the first study providing preliminary data on a broad range of metabolites in human obese placentas. Placental metabolome of OB showed a specific fatty acids profile suggesting a disruption of LC-PUFA biomagnification. Moreover, many of the altered metabolites in OB are part of metabolic pathways involved in antioxidant defenses and nucleotide production, as well as energy production and lipid synthesis, supporting a shift towards higher placental metabolism. Metabolic signatures in obese placentas may thus reflect changes occurring in the intrauterine metabolic environment, which may have effect on the development of adult diseases. This study can lay the foundation to further metabolomics placental characterization in the context of obesity. It can represent an additional missing link combining the two separated biological compartments of maternal blood and amniotic fluid, already investigated in other studies. Moreover, future works based on these preliminary data will help identifying a specific placental phenotype of obese pregnancies
Microorganisms
Even today, tuberculosis in childhood is a disease that is often undiagnosed and undertreated. In... more Even today, tuberculosis in childhood is a disease that is often undiagnosed and undertreated. In the absence of therapy with antituberculosis drugs, children in the first years of life have a high degree of severe forms and mortality. In these children, symptoms are often not very specific and can easily be confused with other diseases of bacterial, viral or fungal etiology, making diagnosis more difficult. Nevertheless, the introduction of new diagnostic techniques has allowed a more rapid identification of the infection. Indeed, Interferon gamma release assay (IGRA) is preferred to the Mantoux, albeit with obvious limitations in children aged <2 years. While the Xpert Mtb/RIF Ultra test is recommended as an initial diagnostic investigation of the gastric aspirate and/or stools in children with signs and symptoms of pulmonary tuberculosis. The drugs used in the treatment of susceptible and resistant TB are the same as those used in adults but doses and combinations are differen...
Hygeia Press di Corridori Marinella, 2019
Frontiers in Pediatrics
Gestational diabetes mellitus (GDM), or any degree of glucose intolerance recognized for the firs... more Gestational diabetes mellitus (GDM), or any degree of glucose intolerance recognized for the first time during pregnancy, is one of the diseases that most frequently aggravates the course of gestation. Missed or late diagnosis and inadequate treatment are associated with high maternal and fetal morbidity, with possible short- and long-term repercussions. Estimates on the prevalence of GDM are alarming and increasing by about 30% in the last 10–20 years. In addition, there is the negative influence of the SARS-CoV-2 emergency on the glycemic control of pregnant women, making the matter increasingly topical. To date, knowledge on the metabolic maturation of newborns is still incomplete. However, in light of the considerable progress of the theory of “developmental origins of health and disease,” the relevant role of the intrauterine environment cannot be overlooked. In fact, due to the high plasticity of the early stages of development, some detrimental metabolic alterations during fe...
Pediatric Reports
Recent studies identified pregnancy as a high-risk condition for the development of maternal-feta... more Recent studies identified pregnancy as a high-risk condition for the development of maternal-fetal complications in the case of the SARS-CoV-2 infection. Therefore, the scientific community is now considering pregnant women a “fragile” category that should be vaccinated with high priority. The number of pregnant women undergoing hospitalization since summer 2021, including Intensive Care Unit admission, is growing, as well as the risk of preterm birth. Evidence from both animals and humans suggest that, similarly to other vaccines routinely administered in pregnancy, COVID-19 vaccines are not crossing the placenta, do not increase the risk of miscarriage, preterm birth, stillbirth, the birth of small gestational age neonates, as well as the risk of congenital abnormalities. To date, the World Health Organization and scientific literature are promoting and encouraging the vaccination of all pregnant and lactating women. The aim of our narrative review is to present the available lite...
New Technologies and Perinatal Medicine, 2019
New Technologies and Perinatal Medicine, 2019
Introduction: In the last years the uncritical attitude towards cesarean section (CS) has been as... more Introduction: In the last years the uncritical attitude towards cesarean section (CS) has been associated with the fast emergence of ‘modern’ diseases such as early pediatric obesity, asthma, type 2 diabetes mellitus and dermatitis. Increasing evidence shows that babies born at term by vaginal delivery (VD) have a different physiology at birth, with subsequent influence on adult health. In relation to these short-term physiological changes, in the present study we aimed at assessing the influence of the mode of delivery in term newborns on the first 24 hours metabolism of neonates. Material and methods: This study was carried out on urine samples from 42 patients admitted to the Neonatal Intensive Unit and Neonatal Pathology of “S. Giovanni Calibita” Hospital Fatebenefratelli (Rome, Italy). According to the type of delivery, term neonates with similar gestational age and birthweight were divided in two groups: (1) born by spontaneous VD, (2) born by elective CS. Urine samples, colle...
Acta Paediatrica, 2021
This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmer... more This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmerc ial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
The Journal of comparative neurology, Jan 22, 2018
Extensive loss of noradrenaline-containing neurons and fibers is a nearly invariant feature of Al... more Extensive loss of noradrenaline-containing neurons and fibers is a nearly invariant feature of Alzheimer's Disease (AD). However, the exact noradrenergic contribution to cognitive and histopathological changes in AD is still unclear. Here, this issue was addressed following selective lesioning and intrahippocampal implantation of embryonic noradrenergic progenitors in developing rats. Starting from about 3 months and up to 12 months post-surgery, animals underwent behavioral tests to evaluate sensory-motor, as well as spatial learning and memory, followed by post-mortem morphometric analyses. At 9 months, Control, Lesioned and Lesion + Transplant animals exhibited equally efficient sensory-motor and reference memory performance. Interestingly, working memory abilities were seen severely impaired in Lesion-only rats and fully recovered in Transplanted rats, and appeared partly lost again 2 months after ablation of the implanted neuroblasts. Morphological analyses confirmed the al...
Psychiatric Clinics of North America, 2014
Whether some instances of obsessive-compulsive disorder are secondary to infectious and/or autoim... more Whether some instances of obsessive-compulsive disorder are secondary to infectious and/or autoimmune processes is still under scientific debate. The nosology has undergone an iterative process of criteria and acronyms from PITANDS to PANDAS to PANS (or CANS for neurology). This review focuses on the clinical presentation, assessment, proposed pathophysiology, and treatment of pediatric autoimmune neuropsychiatric disorders associated with streptococcus (PANDAS), and the newest iteration, pediatric acute-onset neuropsychiatric syndrome (PANS). Children who have these symptoms, which have become known as PANS, have been described by their parents as &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;changed children.&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;
Current Pediatric Reviews, Apr 11, 2023
: To date, the complex picture of atopic dermatitis (AD) has not yet been fully clarified, despit... more : To date, the complex picture of atopic dermatitis (AD) has not yet been fully clarified, despite the important prevalence of this disease in the pediatric population (20%) and the possibility of persistence into adulthood, with important implications for the quality of life of those affected, as well as significant social and financial costs. The most recent scientific evidence suggests a new interpretation of AD, highlighting the important role of the environment, particularly that of nutrition in the early stages of development. In fact, the new indications seem to point out the harmful effect of elimination diets, except in rare cases, the uselessness of chrono-insertions during complementary feeding and some benefits, albeit weak, of breastfeeding in those at greater risk. In this context, metabolomics and lipidomics can be necessary for a more in-depth knowledge of the complex metabolic network underlying this pathology. In fact, an alteration of the metabolic contents in children with AD has been highlighted, especially in correlation to the intestinal microbiota. While preliminary lipidomic studies showed the usefulness of a more in-depth knowledge of the alterations of the skin barrier to improve the development of baby skin care products. Therefore, investigating the response of different allergic phenotypes could be useful for better patient management and understanding, thus providing an early intervention on dysbiosis necessary to regulate the immune response from the earliest stages of development.
DOAJ (DOAJ: Directory of Open Access Journals), Jul 1, 2021
OBJECTIVE The human being has evolved in close symbiosis with its own ecological community of com... more OBJECTIVE The human being has evolved in close symbiosis with its own ecological community of commensal, symbiotic and pathogenic bacteria. After the intestinal microbiome, that of the oral cavity is the largest and most diversified. Its importance is reflected not only in local and systemic diseases, but also in pregnancy since it would seem to influence the placental microbiome. MATERIALS AND METHODS This is a literature review of articles published in PubMed about Fusobacterium Nucleatum and both its implications with systemic and oral health, adverse pregnancy outcomes, flavors perception and its interference in the oral-nasal mucosal immunity. RESULTS It is in maintaining the microbiome's homeostasis that the Fusobacterium nucleatum, an opportunistic periodontal pathogen of the oral cavity, plays a crucial role both as a bridge microorganism of the tongue biofilm, and in maintaining the balance between the different species in the oral-nasal mucosal immunity also by taste receptors interaction. It is also involved in the flavor perception and its detection in the oral microbiome of children from the first days of life suggests a possible physiological role. However, the dysbiosis can determine its pathogenicity with local and systemic consequences, including the pathogenesis of respiratory infections. CONCLUSIONS It is interesting to evaluate its possible correlation with Sars-CoV-2 and the consequences on the microflora of the oral cavity, both to promote a possible broad-spectrum preventive action, in favor of all subjects for whom, by promoting the eubiosis of the oral microbiome, a defensive action could be envisaged by the commensals themselves but, above all, for patients with specific comorbidities and therefore already prone to oral dysbiosis.
Current Pediatric Reviews, Nov 5, 2020
Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is a clinical condition characterized by a... more Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is a clinical condition characterized by a sudden and dramatic obsessive-compulsive disorder with a recommended postinfectious immune-mediated etiology. This condition is accompanied by an extensive series of relatively serious neuropsychiatric symptoms. The diagnosis of PANS is made by "exclusion", as the individual PANS symptoms overlap with a multiplicity of psychiatric disorders with the onset in childhood. A number of researchers accumulated evidence to support the hypothesis that PANS was closely associated with a number of infections. In the last decade, metabolomics played an essential role in improving the knowledge of complex biological systems and identifying potential new biomarkers as indicators of pathological progressions or pharmacologic responses to therapy. The metabolome is considered the most predictive phenotype, capable of recognizing epigenetic differences, reflecting more closely the clinical reality at any given moment and thus providing extremely dynamic data. In the present work, the most recent hypothesis and suggested mechanisms of this condition are reviewed and the case of a 10year-old girl with PANS is described, before and after clarithromycin treatment. The main results of this case report are discussed from a metabolomics point of view. The alteration of several metabolic pathways concerning the microbial activity highlights the possible role of the microbiome in the development of PANS. Furthermore, different metabolic perturbations at the level of protein biosynthesis, energy and amino acid metabolisms are observed and discussed. Based on our observations, it is believed that metabolomics is a promising technology to unravel the mysteries of PANS in the near future.
Metabolites, Mar 11, 2023
The growing obesity epidemic in childhood is increasingly concerning for the related physical and... more The growing obesity epidemic in childhood is increasingly concerning for the related physical and psychological consequences, with a significant impact on health care costs in both the short and the long term. Nonetheless, the scientific community has not yet completely clarified the complex metabolic mechanisms underlying body weight alterations. In only a small percentage of cases, obesity is the result of endocrine, monogenic, or syndromic causes, while in much more cases, lifestyle plays a crucial role in obesity development. In this context, the pediatric age appears to be of considerable importance as prevention strategies together with early intervention can represent important therapeutic tools not only to counteract the comorbidities that increasingly affect children but also to hinder the persistence of obesity in adulthood. Although evidence in the literature supporting the alteration of the microbiota as a critical factor in the etiology of obesity is abundant, it is not yet fully defined and understood. However, increasingly clear evidence is emerging regarding the existence of differentiated metabolic profiles in obese children, with characteristic metabolites. The identification of specific pathology-related biomarkers and the elucidation of the altered metabolic pathways would therefore be desirable in order to clarify aspects that are still poorly understood, such as the consequences of the interaction between the host, the diet, and the microbiota. In fact, metabolomics can characterize the biological behavior of a specific individual in response to external stimuli, offering not only an eventual effective screening and prevention strategy but also the possibility of evaluating adherence and response to dietary intervention.
Current Pediatric Reviews
: To date, the complex picture of atopic dermatitis (AD) has not yet been fully clarified, despit... more : To date, the complex picture of atopic dermatitis (AD) has not yet been fully clarified, despite the important prevalence of this disease in the pediatric population (20%) and the possibility of persistence into adulthood, with important implications for the quality of life of those affected, as well as significant social and financial costs. The most recent scientific evidence suggests a new interpretation of AD, highlighting the important role of the environment, particularly that of nutrition in the early stages of development. In fact, the new indications seem to point out the harmful effect of elimination diets, except in rare cases, the uselessness of chrono-insertions during complementary feeding and some benefits, albeit weak, of breastfeeding in those at greater risk. In this context, metabolomics and lipidomics can be necessary for a more in-depth knowledge of the complex metabolic network underlying this pathology. In fact, an alteration of the metabolic contents in children with AD has been highlighted, especially in correlation to the intestinal microbiota. While preliminary lipidomic studies showed the usefulness of a more in-depth knowledge of the alterations of the skin barrier to improve the development of baby skin care products. Therefore, investigating the response of different allergic phenotypes could be useful for better patient management and understanding, thus providing an early intervention on dysbiosis necessary to regulate the immune response from the earliest stages of development.
Metabolites
The inborn errors of metabolism (IEMs or Inherited Metabolic Disorders) are a heterogeneous group... more The inborn errors of metabolism (IEMs or Inherited Metabolic Disorders) are a heterogeneous group of diseases caused by a deficit of some specific metabolic pathways. IEMs may present with multiple overlapping symptoms, sometimes difficult delayed diagnosis and postponed therapies. Additionally, many IEMs are not covered in newborn screening and the diagnostic profiling in the metabolic laboratory is indispensable to reach a correct diagnosis. In recent years, Metabolomics helped to obtain a better understanding of pathogenesis and pathophysiology of IEMs, by validating diagnostic biomarkers, discovering new specific metabolic patterns and new IEMs itself. The expansion of Metabolomics in clinical biochemistry and laboratory medicine has brought these approaches in clinical practice as part of newborn screenings, as an exam for differential diagnosis between IEMs, and evaluation of metabolites in follow up as markers of severity or therapies efficacy. Lastly, several research groups...
Metabolites
The growing obesity epidemic in childhood is increasingly concerning for the related physical and... more The growing obesity epidemic in childhood is increasingly concerning for the related physical and psychological consequences, with a significant impact on health care costs in both the short and the long term. Nonetheless, the scientific community has not yet completely clarified the complex metabolic mechanisms underlying body weight alterations. In only a small percentage of cases, obesity is the result of endocrine, monogenic, or syndromic causes, while in much more cases, lifestyle plays a crucial role in obesity development. In this context, the pediatric age appears to be of considerable importance as prevention strategies together with early intervention can represent important therapeutic tools not only to counteract the comorbidities that increasingly affect children but also to hinder the persistence of obesity in adulthood. Although evidence in the literature supporting the alteration of the microbiota as a critical factor in the etiology of obesity is abundant, it is not...
European review for medical and pharmacological sciences, 2019
Sportomics is the application of metabolomics in sports to investigate the metabolic effects of p... more Sportomics is the application of metabolomics in sports to investigate the metabolic effects of physical exercise on individuals, whether they are professional athletes or not. Metabolomics is one of the "omics" sciences that provide a picture of the metabolic state of a person in physiological or pathological conditions. This is achieved through the analysis of metabolites present in a biological fluid, such as saliva, blood, feces, and urine. The authors revised the recent literature concerning this topic and discussed the useful information that sportomics can provide and the limits of the current experimental settings. Furthermore, in the future, sportomics analyses could be used to prevent and manage injuries as it would be known in advance if an athlete is more prone to experience muscular damage or fatigue. Following more trials, it would also be possible to set the best diet and training programs to get the best performances out of the athletes. Moreover, based on ...
Introduction: Maternal obesity is associated with a lipotoxic placental environment that may dire... more Introduction: Maternal obesity is associated with a lipotoxic placental environment that may directly affect placental function and metabolism. Metabolomics is increasingly applied in maternal-fetal medicine for its clinical potential, by identifying specific metabolic profiles, mostly in bio-fluids such as blood, urine or amniotic fluid. This is the first preliminary study analyzing placental metabolomics in normal weight and obese pregnancies. Methods: Placentas at term were collected, washed and immediately frozen in liquid nitrogen at elective cesarean section from 20 normalweight (NW: BMI 18-25 kg/m2) and 18 obese (OB: BMI more than 30 kg/m2) women. Metabolites extraction method was optimized for hydrophilic and lipophilic phases, then analyzed by GC-MS. PLS-DA multivariate statistical analysis was applied. Results: Gestational age, fetal and placental weights were not significantly different between OB and NW.Lipophilic phase analysis in OB showed significantly lower levels of stearic acid and of the LC-PUFA derivatives DHA and arachidonic acid. Hydrophilic phase analysis revealed several metabolites allowing PLS-DA discrimination of data with significantly different levels in OB vs NW: increased glycerol, uracile, hypoxanthine, purine derivative, nicotinamide, glucose-6-P, 3-phosphoglycerate, tyrosine, isoleucine, phenylalanine, leucine, serine; decreased lysine, taurine, inosine, aspartic acid, inositol, gluconic acid, guanosine, glutamine. Conclusion: To our knowledge, this is the first study providing preliminary data on a broad range of metabolites in human obese placentas. Placental metabolome of OB showed a specific fatty acids profile suggesting a disruption of LC-PUFA biomagnification. Moreover, many of the altered metabolites in OB are part of metabolic pathways involved in antioxidant defenses and nucleotide production, as well as energy production and lipid synthesis, supporting a shift towards higher placental metabolism. Metabolic signatures in obese placentas may thus reflect changes occurring in the intrauterine metabolic environment, which may have effect on the development of adult diseases. This study can lay the foundation to further metabolomics placental characterization in the context of obesity. It can represent an additional missing link combining the two separated biological compartments of maternal blood and amniotic fluid, already investigated in other studies. Moreover, future works based on these preliminary data will help identifying a specific placental phenotype of obese pregnancies
Microorganisms
Even today, tuberculosis in childhood is a disease that is often undiagnosed and undertreated. In... more Even today, tuberculosis in childhood is a disease that is often undiagnosed and undertreated. In the absence of therapy with antituberculosis drugs, children in the first years of life have a high degree of severe forms and mortality. In these children, symptoms are often not very specific and can easily be confused with other diseases of bacterial, viral or fungal etiology, making diagnosis more difficult. Nevertheless, the introduction of new diagnostic techniques has allowed a more rapid identification of the infection. Indeed, Interferon gamma release assay (IGRA) is preferred to the Mantoux, albeit with obvious limitations in children aged <2 years. While the Xpert Mtb/RIF Ultra test is recommended as an initial diagnostic investigation of the gastric aspirate and/or stools in children with signs and symptoms of pulmonary tuberculosis. The drugs used in the treatment of susceptible and resistant TB are the same as those used in adults but doses and combinations are differen...
Hygeia Press di Corridori Marinella, 2019
Frontiers in Pediatrics
Gestational diabetes mellitus (GDM), or any degree of glucose intolerance recognized for the firs... more Gestational diabetes mellitus (GDM), or any degree of glucose intolerance recognized for the first time during pregnancy, is one of the diseases that most frequently aggravates the course of gestation. Missed or late diagnosis and inadequate treatment are associated with high maternal and fetal morbidity, with possible short- and long-term repercussions. Estimates on the prevalence of GDM are alarming and increasing by about 30% in the last 10–20 years. In addition, there is the negative influence of the SARS-CoV-2 emergency on the glycemic control of pregnant women, making the matter increasingly topical. To date, knowledge on the metabolic maturation of newborns is still incomplete. However, in light of the considerable progress of the theory of “developmental origins of health and disease,” the relevant role of the intrauterine environment cannot be overlooked. In fact, due to the high plasticity of the early stages of development, some detrimental metabolic alterations during fe...
Pediatric Reports
Recent studies identified pregnancy as a high-risk condition for the development of maternal-feta... more Recent studies identified pregnancy as a high-risk condition for the development of maternal-fetal complications in the case of the SARS-CoV-2 infection. Therefore, the scientific community is now considering pregnant women a “fragile” category that should be vaccinated with high priority. The number of pregnant women undergoing hospitalization since summer 2021, including Intensive Care Unit admission, is growing, as well as the risk of preterm birth. Evidence from both animals and humans suggest that, similarly to other vaccines routinely administered in pregnancy, COVID-19 vaccines are not crossing the placenta, do not increase the risk of miscarriage, preterm birth, stillbirth, the birth of small gestational age neonates, as well as the risk of congenital abnormalities. To date, the World Health Organization and scientific literature are promoting and encouraging the vaccination of all pregnant and lactating women. The aim of our narrative review is to present the available lite...
New Technologies and Perinatal Medicine, 2019
New Technologies and Perinatal Medicine, 2019
Introduction: In the last years the uncritical attitude towards cesarean section (CS) has been as... more Introduction: In the last years the uncritical attitude towards cesarean section (CS) has been associated with the fast emergence of ‘modern’ diseases such as early pediatric obesity, asthma, type 2 diabetes mellitus and dermatitis. Increasing evidence shows that babies born at term by vaginal delivery (VD) have a different physiology at birth, with subsequent influence on adult health. In relation to these short-term physiological changes, in the present study we aimed at assessing the influence of the mode of delivery in term newborns on the first 24 hours metabolism of neonates. Material and methods: This study was carried out on urine samples from 42 patients admitted to the Neonatal Intensive Unit and Neonatal Pathology of “S. Giovanni Calibita” Hospital Fatebenefratelli (Rome, Italy). According to the type of delivery, term neonates with similar gestational age and birthweight were divided in two groups: (1) born by spontaneous VD, (2) born by elective CS. Urine samples, colle...
Acta Paediatrica, 2021
This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmer... more This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmerc ial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
The Journal of comparative neurology, Jan 22, 2018
Extensive loss of noradrenaline-containing neurons and fibers is a nearly invariant feature of Al... more Extensive loss of noradrenaline-containing neurons and fibers is a nearly invariant feature of Alzheimer's Disease (AD). However, the exact noradrenergic contribution to cognitive and histopathological changes in AD is still unclear. Here, this issue was addressed following selective lesioning and intrahippocampal implantation of embryonic noradrenergic progenitors in developing rats. Starting from about 3 months and up to 12 months post-surgery, animals underwent behavioral tests to evaluate sensory-motor, as well as spatial learning and memory, followed by post-mortem morphometric analyses. At 9 months, Control, Lesioned and Lesion + Transplant animals exhibited equally efficient sensory-motor and reference memory performance. Interestingly, working memory abilities were seen severely impaired in Lesion-only rats and fully recovered in Transplanted rats, and appeared partly lost again 2 months after ablation of the implanted neuroblasts. Morphological analyses confirmed the al...
Psychiatric Clinics of North America, 2014
Whether some instances of obsessive-compulsive disorder are secondary to infectious and/or autoim... more Whether some instances of obsessive-compulsive disorder are secondary to infectious and/or autoimmune processes is still under scientific debate. The nosology has undergone an iterative process of criteria and acronyms from PITANDS to PANDAS to PANS (or CANS for neurology). This review focuses on the clinical presentation, assessment, proposed pathophysiology, and treatment of pediatric autoimmune neuropsychiatric disorders associated with streptococcus (PANDAS), and the newest iteration, pediatric acute-onset neuropsychiatric syndrome (PANS). Children who have these symptoms, which have become known as PANS, have been described by their parents as &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;changed children.&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;