Publications by authors named "Scantamburlo G"

This article provides guidelines for the screening and management of antenatal depression, highlighting the reasons for its underdiagnosis and identifying warning signs and risk factors. The aim is to prevent its consequences and promote early interdisciplinary care.

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The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the human CYP2A gene locus containing the highly polymorphic CYP2A6 gene. CYP2A6 plays a role in the metabolism of nicotine and various drugs. Thus, genetic variation can substantially contribute to the function of this enzyme and associated efficacy and safety.

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The brain is a vital organ that partly regulates our homeostasis and governs our interactions with the world (i.e. the physical, biological, and social environments).

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Introduction: Because of their importance as companion animals or as racehorses, horses can be treated with various drugs. Although it is known that drug withdrawal times can vary for each horse, pharmacogenetics for these animals has not been adequately studied and requires further development. Since is responsible for the metabolism of 25-30% of drugs in humans, including some used to treat horses, a study of the family in horses was conducted to define its genetic structure as well as its expression pattern in the liver.

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Functional neurological disorders (FND), formerly called «conversion hysteria», are still poorly understood diseases that suffer from an outdated, sometimes erroneous and stigmatizing conception on the part of health care teams. Enlightened by historical concepts, we propose a modern reading of FND with the aim of deconstructing preconceived ideas and proposing a global, benevolent and individualized approach.

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Affective instability is a common phenomenon in adults. It may be the expression of underlying organic or psychiatric conditions. This is a potentially disabling symptom for the individual, which can cause psychological distress and even consequences in daily life functioning.

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Global warming threatens the survival of humanity and is the greatest challenge of our generation. While the consequences for physical health are well documented, the impact on mental health, while considerable, was too little studied. This unprecedented crisis is putting a strain on our health care systems and is mostly affecting vulnerable and precarious populations.

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Known SARS-CoV-2 variants of concern (VOCs) can be detected and differentiated using an RT-PCR-based genotyping approach, which offers quicker time to result, lower cost, higher flexibility, and use of the same laboratory instrumentation for detection of SARS-CoV-2 when compared with whole genome sequencing (WGS). In the current study, we demonstrate how we applied a genotyping approach for identification of all VOCs and that such technique can offer comparable performance to WGS for identification of known SARS-CoV-2 VOCs, including more recent strains, Omicron BA.1 and BA.

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Obsessive compulsive disorder (OCD) is a common and disabling psychiatric condition. About 10 % of patients are considered to be severely affected and refractory to the usual treatments, combining antidepressants and psychotherapy. Deep brain stimulation (DBS) is a promising treatment, reserved for specialized university centers.

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Obesity is a chronic disease that is difficult to manage and is often punctuated by treatment failure. Screening for eating disorders, the prevalence of which is high in overweight patients, is essential in order to minimize the risk of relapse and the «yoyo» phenomenon. As the reason for consulting obese subjects is rare to be eating disorders from the outset, it is necessary to assess this behaviour from the first consultations, in order to propose a specific therapeutic approach aimed at stable weight loss in the long term.

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The article describes a clinical case of catatonic syndrome. We describe the manifestations of the syndrome, its diagnostic criteria and associated scales. The modalities of the challenge test, constituting a diagnostic test, and first line treatment are detailed.

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Recent technological advances have seen the resumption or the advent of new approaches in the field of psychiatry such as electroconvulsive therapy, repeated transcranial magnetic stimulation, transcranial direct current electrical stimulation or even deep brain stimulation. These new approaches offer a window into the understanding of the neurobiological mechanisms linked to mental illnesses. This review summarizes current knowledges in the field and the future directions for the treatment of depression or obsessive-compulsive disorder.

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Background: Clinicians in neuroscientific disciplines may present distinct personality profiles. Despite of potential relevance to clinical practice, this has not yet been studied. We therefore aimed to compare personality profiles of physicians working in the three main disciplines of clinical neuroscience, i.

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Pendrin (SLC26A4), a Cl/anion exchanger, is expressed at high levels in kidney, thyroid, and inner ear epithelia, where it has an essential role in bicarbonate secretion/chloride reabsorption, iodide accumulation, and endolymph ion balance, respectively. Pendrin is expressed at lower levels in other tissues, such as airways and esophageal epithelia, where it is transcriptionally regulated by the inflammatory cytokines interleukin (IL)-4 and IL-13 through a signal transducer and activator of transcription 6 (STAT6)-mediated pathway. In the airway epithelium, increased pendrin expression during inflammatory diseases leads to imbalances in airway surface liquid thickness and mucin release, while, in the esophageal epithelium, dysregulated pendrin expression is supposed to impact the intracellular pH regulation system.

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Background/aims: In the human genome, more than 400 genes encode ion channels, which are ubiquitously expressed and often coexist and participate in almost all physiological processes. Therefore, ion channel blockers represent fundamental tools in discriminating the contribution of individual channel types to a physiological phenomenon. However, unspecific effects of these compounds may represent a confounding factor.

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Background/aim: Accurate genotyping of CYP2D6 is challenging due to its inherent genetic variation, copy number variation (duplications and deletions) and hybrid formation with highly homologous pseudogenes. Because a relatively high percentage (∼25%) of clinically prescribed drugs are substrates for this enzyme, accurate determination of its genotype for phenotype prediction is essential.

Methods: A cohort of 365 patient samples was genotyped for CYP2D6 using Sanger sequencing (as the gold standard), hydrolysis probe assays or pyrosequencing.

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Lipoyl(Octanoyl) Transferase 2 (LIPT2) is a protein involved in the post-translational modification of key energy metabolism enzymes in humans. Defects of lipoic acid synthesis and transfer start to emerge as causes of fatal or severe early-onset disease. We show that the first 31 amino acids of the N-terminus of LIPT2 represent a mitochondrial targeting sequence and inhibition of the transit of LIPT2 to the mitochondrion results in apoptotic cell death associated with activation of the apoptotic volume decrease (AVD) current in normotonic conditions, as well as over-activation of the swelling-activated chloride current (IClswell), mitochondrial membrane potential collapse, caspase-3 cleavage and nuclear DNA fragmentation.

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Schizophrenia is a complex pathology. Its prevalence reaches almost 1 %. Its semiology can be diversified.

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Conversion disorder is a psychiatric disorder often encountered in neurology services. This condition without organic lesions was and still is sometimes referred as an imaginary illness or feigning. However, the absence of organic lesions does not exclude the possibility of cerebral dysfunction.

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Unlabelled: Pendrin is upregulated in bronchial epithelial cells following IL-4 stimulation via binding of STAT6 to an N4 GAS motif. Basal CpG methylation of the pendrin promoter is cell-specific. We studied if a correlation exists between IL-4 sensitivity and the CpG methylation status of the pendrin promoter in human bronchial epithelial cell models.

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A LogBook is a learning tool and teaching aid I where clinical settings lived during training courses are provided. A LogBook is basically a journal which evidences learning and skills. LogBook provides a means for monitoring student learning, both for the student and for the instructor.

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Systemic lupus erythematosus (SLE) is an inflammatory disease with multiple and disabling consequences, including the psychological status. The prevalence of major depressive episodes among patients suffering from SLE is significantly higher than in healthy people, or people suffering from other inflammatory diseases. While it is obvious that its chronic disease status with a frequently pejorative ending, as well as the number of treatments it requires, are contributing factors, it is likely that due to its pathogenic mechanisms, SLE causes direct injury to the brain, leading to a depressive symptomatology.

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Scientific data of effects of 50 Hz electric and magnetic fields on health are inconclusive. This uncertainty raises numerous questions. In this paper, significant key concepts are described to better understand the potential effects of electric and magnetic fields on health.

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