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Biomedical subjects

Mauro Ceccanti

Publications and source records attributed to Mauro Ceccanti.

14 recordsLinked to original sources

Precision Genomics: A Reality Having Universal Impact in a New Era of Psychiatry - Lessons Learned, Past and Present.

Addiction neuroscience explores the complex interplay between genetic, neurobiological, environmental, and socio-spiritual factors underlying substance and behavioral addictions. Over the past three decades, research in this domain has identified critical molecular and epigenetic mechanisms-particularly those affecting dopaminergic signaling and reward pathways-that contribute to both vulnerability and resilience to addictive behaviors. Central to this understanding is the concept of reward deficiency syndrome (RDS), first introduced by Kenneth Blum, which posits that hypodopaminergic functioning predisposes individuals to seek maladaptive rewards. Advances in neurogenetics, including the identification of key polymorphisms such as the DRD2 A1 allele, have paved the way for precision tools like the genetic addiction risk severity (GARS®) test. This test, alongside pro-dopaminergic nutraceutical interventions like KB220, demonstrates the potential for early detection and individualized treatment of "pre-addiction" risk states. Despite ongoing reliance on opioids for opioid use disorder (OUD), emerging paradigms advocate for dopamine homeostasis through non-addictive, integrative approaches. Furthermore, the integration of whole genome sequencing data can be used for Genome-Wide Association Studies (GWAS), multi-omics, and machine learning into clinical practice holds promise for advancing personalized medicine in addiction treatment. As the field progresses, addressing health equity and improving genomic representation across populations remain critical goals. This evolving framework underscores the importance of leveraging genomic insights to prevent, predict, and personalize interventions for addiction and mental illness at scale.

Disorder↗

Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention.

In Italy, little is known about the spectrum of adverse fetal effects related to maternal alcohol use during pregnancy. In this paper, we report on the phenotype of Italian children with fetal alcohol spectrum disorders (FASD). These data were gathered as part of a field study assessing the prevalence of FASD in children in an in-school study in a rural area near Rome. The purposes of this paper are: (1) to completely characterize the clinical phenotype of a large cohort of Italian children with FASD; (2) to correlate and contrast the phenotype of this population with that observed in other populations and reported in the medical literature; (3) to discuss the drinking habits of Italian women, before, during and after pregnancy; and (4) to suggest mechanisms for intervention and prevention of FASD based on data gathered from this study.

Alcohols↗

Woman, alcohol and environment: Emerging risks for health.

Alcohol drinking is one of the most relevant problems in Western Countries but the negative effects of alcohol misuse are often neglected or underestimated with serious consequences for public health. Over the last few years a rapid growth in the number of drinking females and the decrease of their age of first use, have increased the health risk for women and their offspring. Moreover, modern environments facilitate pollutants exposure, further escalating the health risks due to lifestyle habits. This review takes into account the peculiarities of alcohol effects on female health and the risks of teratogenic effects. The possible interaction between alcohol and pollutants exposure is also discussed. The role of biomarkers against alcohol-related damage is presented as an invaluable clinical tool, including early intervention, treatment monitoring and, above all, prevention of prenatal non-reversible damage. Recent alcohol studies show the greater severity of alcohol damage in female subjects and the need of gender-targeted intervention.

Abnormalities, Drug-Induced↗

Acute alcoholic hepatitis.

Acute alcoholic hepatitis (AAH) is a frequent inflammatory liver disease with high short-term mortality rate. In this review, relationships between alcohol abuse and the epidemiology and the outcomes of AAH are discussed, as well as AAH pathogenesis. The role of endotoxins, tumor necrosis factor alpha, fibroblasts, and immune response to altered hepatocyte proteins is discussed. The need of a careful prognosis, supported by the use of Maddrey score, by the model for end-stage liver disease [Mayo end-stage liver disease (MELD)] score or by the Glasgow alcoholic hepatitis score, is outlined, as the use of the most effective drugs (glucocorticoids and anti-tumor necrosis factor alpha infliximab) is recommended only in severe AAH cases. The problems of liver transplant in severe AAH, and the need of a 6-month alcohol abstinence before transplant, are discussed, as well as the need of a careful psychologic assessment before the transplant.

Acute Disease↗

Neurobehavioral characteristics of children with fetal alcohol spectrum disorders in communities from Italy: Preliminary results.

BACKGROUND: There has been considerable effort expended on defining neurobehavioral characteristics of children with fetal alcohol spectrum disorders (FASD). Children with FASD display a range of cognitive deficits and behavioral problems. In this article, we report on the neurobehavioral characteristics of children with FASD in selected communities in Italy. It was expected that both inattentive and hyperactive/impulsive characteristics would discriminate children with FASD from controls and that the groups would also differ on intellectual functioning, language comprehension, and academic skills. METHODS: Eighty-two children, 22 diagnosed with FASD and 60 control children, participated in this study. The children were administered tests of nonverbal reasoning, language comprehension, academic achievement, and behavior. RESULTS: On tests of nonverbal reasoning and language comprehension, the FASD group earned lower scores than did controls. Moreover, on a test of academic achievement the FASD group scored lower. When comparing these 2 groups on disruptive behavioral symptomatology, similar results were obtained, the FASD group showing greater attentional difficulties and hyperactivity/impulsivity behaviors and more overall behavioral problems. Stepwise logistic regression analysis showed that a model containing inattention and error scores on the language comprehension task correctly classified 85% of the participants. Compared with the control group, a significantly greater proportion of children with FASD met the Diagnostic and Statistical Manual of Mental Disorders-fourth edition (DSM-IV) criteria of ADD, inattentive type, as reported by teachers. In contrast, hyperactive symptoms among children with FASD were comparable with the control group. Teachers rated children with FASD as having more inattentive behaviors and as performing lower in academic skills than controls. The association between reported hyperactivity symptoms and achievement scores was nonsignificant for both language and math scores, suggesting that it is not the hyperactivity causing problems, but the child's inattention. CONCLUSIONS: This research indicates that a nonclinic-referred sample of Italian children with FASD display a profile of neurobehavioral functioning consistent with that reported by other researchers. Furthermore, the neurobehavioral characteristic most identified with children diagnosed with FASD was inattention followed by hyperactivity.

Attention Deficit Disorder with Hyperactivity↗

Epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools.

BACKGROUND: Accurate estimates of the prevalence and characteristics of fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) in a Western European population are lacking and are of particular interest in settings where the usual pattern of alcohol consumption is thought to be daily drinking with meals. To address these issues, an epidemiology study of FAS and other FASD was undertaken in Italian schools. METHODS: Primary schools (n = 25) in 2 health districts of the Lazio region were randomly selected and recruited for the study. Five hundred forty-three children, 50% of those enrolled in first-grade classes, received parental permission to participate in a 2-tiered, active case ascertainment screening process. Detailed evaluation of children selected in a preliminary screening phase was carried out on those who were small for height, weight, and head circumference and/or referred by teachers for suspected learning and behavioral problems. Detailed evaluation was carried out on each child's: (1) physical growth and dysmorphology, (2) psychological development and behavior, and (3) prenatal exposure to alcohol and other risk factors for FASD via maternal interviews. A group of 67 randomly selected children without FASD from the same classes was utilized as a comparison group. RESULTS: Using 2 denominators for prevalence estimation, a conservative one and a strict sample-based estimate, the prevalence of FAS in this province of Italy was 3.7 to 7.4 per 1,000 children. When cases of partial FAS (PFAS) and a case of alcohol-related neurodevelopmental deficits (ARND) were added to FAS cases, the rate of FASD was 20.3 to 40.5 per 1,000 and estimated at 35 per 1,000 overall or between 2.3 and 4.1% of all children. This exceeds previously published estimates of both FAS and FASD for the western world. Detailed data are presented that demonstrate the utility of the guidelines of the revised Institute of Medicine diagnostic criteria for FASD. Children with FASD are significantly more impaired/affected (p < 0.05) than randomly selected comparison children on all measures of growth deficiency, key facial features of FASD, overall dysmorphology scores, language comprehension, nonverbal IQ, and behavior. Maternal reports of current drinking were significantly higher for mothers of FASD children than comparison mothers, but reported rates of overall drinking during pregnancy were not significantly different. In contrast to expectations, daily drinking among mothers of the comparison group was not common. However, dysmorphology scores of the children were significantly correlated with drinking in the second and third trimesters, drinks per current drinking day, and current drinks per month. Finally, children with the physical features of FASD had lower IQs; nonverbal IQ was significantly correlated with head circumference and negatively correlated with overall dysmorphology score, smooth philtrum, and several other facial and physical anomalies characteristic of FAS. CONCLUSIONS: Using careful measures of ascertainment in a primary school setting, these results provide relatively high estimates of the prevalence of FASD and raise the question of whether FASD is more common in the western world than previously estimated.

Abnormalities, Drug-Induced↗

National Institute on Alcohol Abuse and Alcoholism and the study of fetal alcohol spectrum disorders. The International Consortium.

Fetal alcohol syndrome (FAS) is a large and rapidly increasing public health problem worldwide. Aside the full-blown FAS, multiple terms are used to describe the continuum of effects that result from prenatal exposure to alcohol, including the whole fetal alcohol spectrum disorders (FASD). The revised Institute of Medicine (IOM) Diagnostic Classification System and the diagnostic criteria for FAS and FASD are reported, as well as the formation of the four-state FAS International Consortium and its aims, as the development of an information base that systematizes data collection that helps to determine at-high-risk populations, and to implement and test a scientific-based prevention/intervention model for at risk women. The Consortium was further enlarged, with the inclusion of some more states (including Italy), leading to the formation of the International Consortium for the Investigation of FASD. The objectives of the Consortium are reported, as well as its previous activities, the South Africa and Italy Projects (active case ascertainment initiatives), and its future activities.

Adult↗

Female drinking, environment and biological markers.

The rate of women involved in alcohol abuse is rapidly increasing and the age of first use tends dramatically to decrease. The health and social costs are high both for the adverse effects on physical and psychological woman health, and for the teratogenic effect of alcohol on fetal development. The review takes in account physiological aspects of alcohol effects according to age and gender differences. Interaction between alcohol habit and environment are discussed together with the risk of co-exposure to alcohol and pollutants. The role of biomarkers may be invaluable for clinical utility, prevention and early intervention above all to avoid prenatal, not reversible damages. The update of alcohol studies shows the greater severity of alcohol damage in female and the need of gender-targeted intervention.

Adult↗

Fetal alcohol syndrome disorders: experience on the field. The Lazio study preliminary report.

In Italy, little is known about the problems related to alcohol drinking during pregnancy. In this paper, the Italian literature about this subject is briefly reviewed. This first Italian experience of a field study, aimed to the assessment of the prevalence of fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) in an area in the Rome province (Lazio region) is reported. This in-field study was performed in the school years 2003-2004 and 2004-2005 in cooperation with American researchers, most from University of New Mexico (Albuquerque), and Italian researchers from University "la Sapienza" of Rome. First grade children (n(o) = 1,086) of primary school were contacted to enter in the in-school study for the detection of FAS and FASD and were examined by the experts team of clinicians, pediatrics, psychologists. Preliminary consideration and the implications of this study for FASD prevention are discussed.

Adult↗

MRI and muscle signal intensities in alcoholics compared with control subjects.

OBJECTIVE: To evaluate by magnetic resonance imaging (MRI) the difference in muscle signal intensities between alcoholics and control subjects. METHODS: Thirty-four healthy subjects and 46 alcohol-dependent individuals were assessed. MRI was carried out using a low-field magnet (0.2 Tesla) and a limb-dedicated coil. The presence of muscle changes was evaluated by measuring signal intensities at the medial (MG) and lateral heads of the gastrocnemius muscle by T1-/T2-weighted and gradient-echo short tau inversion recovery sequences. The mean signal intensities of the two sample groups were compared by ANCOVA with age as a covariate. In the alcohol-dependent group, correlations between signal intensities and plasma levels of muscular and hepatic enzymes, in addition to years of high-risk consumption and lifetime dose of ethanol consumed, were assessed. The mean signal intensities were also compared with the different degrees of pain by ANOVA. RESULTS: Compared with healthy subjects, the alcohol-dependent group had mean higher signal intensities in both gastrocnemius heads in all sequences. The difference in the MG in T2-weighted sequences was significant (F = 48.28, p < 0.01). A modest correlation between the years of high-risk consumption and the signal intensity was found in T2-weighted sequences in the MG (r = 0.288, p = 0.057), whereas a correlation with the lifetime dose consumed was not found. Significant correlations between signal intensities and plasma levels of muscular and hepatic enzymes were not found. There were also no significant group differences on different degrees of pain. CONCLUSION: MRI was shown to be a sensitive, well-tolerated, and inexpensive procedure capable of detecting changes in signal intensities in the muscles of alcoholics. This technique could be included among other diagnostic tools for alcoholic myopathy with further improvements and if the signal alterations can be corroborated by biopsy evidence.

Adult↗

[Alcohol and women: clinical aspects].

Alcohol-related pathologies lead to most serious expressions, both at clinical and social level. The diffused social acceptance of consumption and abuse behavior and the lack of alcohol education for professionals (physicians, psychologists, social workers etc.) make difficult to put in the right frame this issue. Just a multidimensional approach can make the problem understandable. The history of alcohol consumption during the time gives us an exhaustive picture of the negative consequences of alcohol consumption. Alcohol consumption during pregnancy is a problem still underestimated and represents a serious risk for the health of the newborns: children alcohol-exposed in uterus are at risk to develop many pathologies and even the fetal-alcohol syndrome (FAS) that leads to facial anomalies, growth deficiencies and neurological damages. Therefore interventions coping with this kind of issues are needed in order to enhance people's health.

Alcohol Drinking↗

Simultaneous liquid chromatographic assessment of thiamine, thiamine monophosphate and thiamine diphosphate in human erythrocytes: a study on alcoholics.

An isocratic HPLC procedure for the assessment of thiamine (T), thiamine monophosphate (TMP) and thiamine diphosphate (TDP) in human erythrocytes is described. Several aspects of the procedure make it suitable for both clinical and research purposes: limits of detection and quantification of 1 and 2.5 nmol/l, respectively, recovery of 102% on average (range 93-112%), intra- and inter-day precisions within 5 and 9%, respectively, total elution time 15 min. This analytical methodology was applied to a case-control study on erythrocyte samples from 103 healthy subjects and 36 alcohol-dependent patients at risk of thiamine deficiency. Mean control values obtained were: T=89.6+/-22.7 nmol/l, TMP=4.4+/-6.6 nmol/l and TDP=222.23+/-56.3 nmol/l. T and TDP mean values of alcoholics were significantly lower than those of control cases: T=69.4+/-35.9 nmol/l (P<0.001) and TDP=127.4+/-62.5 nmol/l (P<10(-5)). The diagnostic role of TDP was evaluated and a significant role for thiamine was established in the study of alcohol related problems.

Adolescent↗

HCV infection and extrahepatic manifestations.

Hepatitis C virus infection is associated with various extrahepatic manifestations such as mixed cryoglobulinemia, membranoproliferative glomerulonephritis and porphyria cutanea tarda. The link between mixed cryoglobulinemia and hepatitis C virus infection is actually well known. Interferon alpha therapy decreases hepatitis C viremia and improves the clinical signs and biochemical abnormalities of cryoglobulinemia. The rare combination of hepatitis C and panarteritis nodosa has still not been confirmed. The sicca syndrome also seems to be associated with hepatitis C virus, but this is not the typical Sjogren's syndrome. It is not yet well established if hepatitis C virus plays a pathogenic role in the development of thyroid dysfunction and autoimmune thyroiditis. Probably interferon therapy may be implicated in the development in this and other extrahepatic manifestations of hepatitis C virus infection. Although an epidemiological association of hepatitis C with lichen planus, neuropathies and other diseases has been observed, the etiological role and the pathogenic involvement of the hepatitis C infection remains unclear. Extrahepatic clinical manifestations are frequently observed in hepatitis C virus patients and involve primarily the joints, muscles, and skin. The most frequent immunological abnormalities include mixed cryoglobulins, antinuclear antibodies, and anti-smooth muscle antibodies.

Antiphospholipid Syndrome↗