Hypoparathyroidism in adults with iron overload diseases (IOD): evidence of a subclinical phenotype.

Purpose: To explore the prevalence of hypoparathyroidism (HPT), overt and subclinical, in a cohort of adults with Iron Overload Diseases (IOD). Secondary aim was to test the calcium (Ca)-to-phosphorus (P) ratio performance in identifying HPT.

Methods: Single-center, prospective, case-control study.

The Emergence of the Hexagonal Lattice in Two-Dimensional Wigner Fragments.

At very low density, the electrons in a uniform electron gas spontaneously break symmetry and form a crystalline lattice called a Wigner crystal. But which type of crystal will the electrons form? We report a numerical study of the density profiles of fragments of Wigner crystals from first principles. To simulate Wigner fragments, we use Clifford periodic boundary conditions and a renormalized distance in the Coulomb potential.

Subthalamic nucleus shows opposite functional connectivity pattern in Huntington's and Parkinson's disease.

Huntington's and Parkinson's disease are two movement disorders representing mainly opposite states of the basal ganglia inhibitory function. Despite being an integral part of the cortico-subcortico-cortical circuitry, the subthalamic nucleus function has been studied at the level of detail required to isolate its signal only through invasive studies in Huntington's and Parkinson's disease. Here, we tested whether the subthalamic nucleus exhibited opposite functional signatures in early Huntington's and Parkinson's disease.

Electronic Structure of Pentagonal Carbon Nanocones: An ab Initio Study.

In this work, we investigate the electronic structure of a particular class of carbon nanocones having a pentagonal tip and symmetry. The ground-state nature of the wave function for these structures can be predicted by the recently proposed generalized Hückel rule that extends the original Hückel rule for annulenes to this class of carbon nanocones. In particular, the structures here considered can be classified as closed-shell or anionic/cationic closed-shells, depending on the geometric characteristics of the cone.

Solution to the Thomson Problem for Clifford Tori with an Application to Wigner Crystals.

In its original version, the Thomson problem consists of the search for the minimum-energy configuration of a set of point-like electrons that are confined to the surface of a two-dimensional sphere () that repel each other according to Coulomb's law, in which the distance is the Euclidean distance in the embedding space of the sphere, i.e., .

Mapping of Hückel zigzag carbon nanotubes onto independent polyene chains: Application to periodic nanotubes.

The electric polarizability and the spread of the total position tensors are used to characterize the metallic vs insulator nature of large (finite) systems. Finite clusters are usually treated within the open boundary condition formalism. This introduces border effects, which prevent a fast convergence to the thermodynamic limit and can be eliminated within the formalism of periodic boundary conditions.

Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease.

Objective: In Alzheimer's disease (AD), the presence of circadian dysfunction is well-known and may occur early in the disease course. The melanopsin retinal ganglion cell (mRGC) system may play a relevant role in contributing to circadian dysfunction. In this study, we aimed at evaluating, through a multimodal approach, the mRGC system in AD at an early stage of disease.

Emotion dysregulation, impulsivity and anger rumination in borderline personality disorder: the role of amygdala and insula.

Borderline Personality Disorder (BPD) is a severe mental disorder, characterized by deficits in emotion regulation, interpersonal dysfunctions, dissociation and impulsivity. Brain abnormalities have been generally explored; however, the specific contribution of different limbic structures to BPD symptomatology is not described. The aim of this study is to cover this gap, exploring functional and structural alterations of amygdala and insula and to highlight their contribution to neuropsychiatric symptoms.

Non-Pharmacological Treatments in Lewy Body Disease: A Systematic Review.

Introduction: Lewy body disease (LBD) is the second most common neurodegenerative disorder in patients older than 65 years. LBD is characterized by heterogeneous symptoms like fluctuation in attention, visual hallucinations, Parkinsonism, and REM sleep behaviour disorders. Considering the relevant social impact of the disease, identifying effective non-pharmacological treatments is becoming a priority.

The Wigner localization of interacting electrons in a one-dimensional harmonic potential.

In this work, we study the Wigner localization of interacting electrons that are confined to a quasi-one-dimensional harmonic potential using accurate quantum chemistry approaches. We demonstrate that the Wigner regime can be reached using small values of the confinement parameter. To obtain physical insight in our results, we analyze them with a semi-analytical model for two electrons.

In Vivo Parieto-Occipital White Matter Metabolism Is Correlated with Visuospatial Deficits in Adult DM1 Patients.

Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by a (CTG) expansion in the DM protein kinase (DMPK) gene, representing the most common adult muscular dystrophy, characterized by a multisystem involvement with predominantly skeletal muscle and brain affection. Neuroimaging studies showed widespread white matter changes and brain atrophy in DM1, but only a few studies investigated the role of white matter metabolism in the pathophysiology of central nervous system impairment. We aim to reveal the relationship between the metabolic profile of parieto-occipital white matter (POWM) as evaluated with proton MR spectroscopy technique, with the visuoperceptual and visuoconstructional dysfunctions in DM1 patients.

Epigenomic and somatic mutations of pituitary tumors with clinical and pathological correlations in 111 patients.

Objective: To profile clinically non-aggressive and aggressive pituitary adenomas (PAs)/pituitary neuroendocrine tumours (PitNETs) and pituitary carcinomas for somatic mutations and epigenetic alterations of genes involved in cell proliferation/differentiation, microRNAs (miRNA)/long noncoding RNA (LncRNA)-post-transcriptional regulators and therapy targets.

Design: Retrospective observational study.

Patients And Measurements: A total of 64 non-aggressive and 41 aggressive PAs/PitNETs and 6 pituitary carcinomas treated by endoscopic surgery with ≥1-year follow-up were included.

Multilayer Graphtriyne Membranes for Separation and Storage of CO: Molecular Dynamics Simulations of Post-Combustion Model Mixtures.

The ability to remove carbon dioxide from gaseous mixtures is a necessary step toward the reduction of greenhouse gas emissions. As a contribution to this field of research, we performed a molecular dynamics study assessing the separation and adsorption properties of multi-layered graphtriyne membranes on gaseous mixtures of CO, N, and HO. These mixtures closely resemble post-combustion gaseous products and are, therefore, suitable prototypes with which to model possible technological applications in the field of CO removal methodologies.

What Can Resting-State fMRI Data Analysis Explain about the Functional Brain Connectivity in Glioma Patients?

Resting-state functional MRI has been increasingly implemented in imaging protocols for the study of functional connectivity in glioma patients as a sequence able to capture the activity of brain networks and to investigate their properties without requiring the patients' cooperation. The present review aims at describing the most recent results obtained through the analysis of resting-state fMRI data in different contexts of interest for brain gliomas: the identification and localization of functional networks, the characterization of altered functional connectivity, and the evaluation of functional plasticity in relation to the resection of the glioma. An analysis of the literature showed that significant and promising results could be achieved through this technique in all the aspects under investigation.

Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation.

Introduction: The mitochondrial DNA (mtDNA) m.3243A > G mutation in the MT-TL1 gene results in a multi-systemic disease, that is commonly associated with neurodegenerative changes in the brain.

Methods: Seventeen patients harboring the m3243A > G mutation were enrolled (age 43.

Toward a Generalized Hückel Rule: The Electronic Structure of Carbon Nanocones.

In this work, we investigate a particular class of carbon nanocones, which we name graphannulenes, and present a generalized Hückel rule (GHR) that predicts the character of their ground state based on simply the three topological indices that uniquely define them. Importantly, this rule applies to both flat and curved systems, encompassing a wide variety of known structures that do not satisfy the "classic" 4 + 2 rule such as coronene, corannulene, and Kekulene. We test this rule at the Hückel level of theory for a large number of systems, including structures that are convex and flat, with a saddle-like geometry, and at the CASSCF level of theory for a selected representative subset.

The localization spread and polarizability of rings and periodic chains.

The localization spread gives a criterion to decide between metallic and insulating behavior of a material. It is defined as the second moment cumulant of the many-body position operator, divided by the number of electrons. Different operators are used for systems treated with open or periodic boundary conditions.

Wigner localization in two and three dimensions: An ab initio approach.

In this work, we investigate the Wigner localization of two interacting electrons at very low density in two and three dimensions using the exact diagonalization of the many-body Hamiltonian. We use our recently developed method based on Clifford periodic boundary conditions with a renormalized distance in the Coulomb potential. To accurately represent the electronic wave function, we use a regular distribution in space of Gaussian-type orbitals and we take advantage of the translational symmetry of the system to efficiently calculate the electronic wave function.

Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group.

Objective: Friedreich ataxia (FRDA) is an inherited neurological disease defined by progressive movement incoordination. We undertook a comprehensive characterization of the spatial profile and progressive evolution of structural brain abnormalities in people with FRDA.

Methods: A coordinated international analysis of regional brain volume using magnetic resonance imaging data charted the whole-brain profile, interindividual variability, and temporal staging of structural brain differences in 248 individuals with FRDA and 262 healthy controls.

The Combination of Metabolic Posterior Cingulate Cortical Abnormalities and Structural Asymmetries Improves the Differential Diagnosis Between Primary Progressive Aphasia and Alzheimer's Disease.

Differential diagnosis between primary progressive aphasia (PPA) and Alzheimer's disease (AD) could be difficult if based on clinical grounds alone. We evaluated the combination of proton MR spectroscopy of posterior cingulate cortex (PCC) and quantitative structural imaging asymmetries to differentiate PPA from AD patients. A greater left-lateralized temporo-parietal atrophy (higher accuracy for the PCC, 81.

Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations.

Objective: The purpose of this study was to investigate correlations between brain proton magnetic resonance spectroscopy ( H-MRS) findings with serum biomarkers and heteroplasmy of mitochondrial DNA (mtDNA) mutations. This study enrolled patients carrying mtDNA mutations associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), and MELAS-Spectrum Syndrome (MSS).

Methods: Consecutive patients carrying mtDNA mutations associated with MELAS and MSS were recruited and their serum concentrations of lactate, alanine, and heteroplasmic mtDNA mutant load were evaluated.

Brain functional MRI responses to blue light stimulation in Leber's hereditary optic neuropathy.

Melanopsin retinal ganglion cells (mRGCs) are intrinsically photosensitive photoreceptors contributing both to image and non-image-forming (NIF) functions of the eye. They convey light signal to the brain to modulate circadian entrainment, sleep, alertness, cognition, brightness perception and coarse vision. Given that rods and cones also contribute to all these impacts of light, isolating mRGC visual and NIF roles in humans is challenging so that mRGC functions remains to be fully characterized.

Major cerebral vessels involvement in patients with MELAS syndrome: Worth a scan? A systematic review.

Major cerebral vessels have been proposed as a target of defective mitochondrial metabolism in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS). Cerebral angiographic techniques are not routinely performed in MELAS patients. A systematic literature review was performed to identify studies describing major vessel caliber alterations in MELAS.

An Evolutionary Cancer Epigenetic Approach Revealed DNA Hypermethylation of Ultra-Conserved Non-Coding Elements in Squamous Cell Carcinoma of Different Mammalian Species.

Background: Ultra-conserved non-coding elements (UCNEs) are genomic sequences that exhibit > 95% sequence identity between humans, mammals, birds, reptiles, and fish. Recent findings reported their functional role in cancer. The aim of this study was to evaluate the DNA methylation modifications of UNCEs in squamous cell carcinoma (SCC) from different mammal species.

Clifford Boundary Conditions: A Simple Direct-Sum Evaluation of Madelung Constants.

We propose a simple direct-sum method for the efficient evaluation of lattice sums in periodic solids. It consists of two main principles: (i) the creation of a supercell that has the topology of a Clifford torus, which is a flat, finite, and borderless manifold; (ii) the renormalization of the distance between two points on the Clifford torus by defining it as the Euclidean distance in the embedding space of the Clifford torus. Our approach does not require any integral transformations nor any renormalization of the charges.