Functional characterization of novel compound heterozygous missense gene variants causing congenital dyshormonogenic hypothyroidism.

Introduction: The sodium/iodide symporter (NIS) mediates active iodide accumulation in the thyroid follicular cell. Biallelic loss-of-function variants in the NIS-coding gene cause congenital dyshormonogenic hypothyroidism due to a defect in the accumulation of iodide, which is required for thyroid hormonogenesis.

Objective: We aimed to identify, and if so to functionally characterize, novel pathogenic gene variants in a patient diagnosed with severe congenital dyshormonogenic hypothyroidism characterized by undetectable radioiodide accumulation in a eutopic thyroid gland, as well as in the salivary glands.

Pediatric Graves' disease in Argentina: analyzing treatment strategies and outcomes.

Objectives: Graves' disease is the leading cause of hyperthyroidism in children. Only a small percentage of pediatric patients achieve remission with anti-thyroid drug treatment (ATD), and both definitive therapies (thyroidectomy, or radioiodine thyroid ablation) cause lifelong hypothyroidism. Our objective was to evaluate the outcome of patients with pediatric Graves' disease (PGD), treated at a single tertiary center, focusing on response to medical treatment, remission rate, adverse reactions (AR), definitive treatment (DT), and potential predictive factors for remission.

Room-Temperature Optical Spin Polarization of an Electron Spin Qudit in a Vanadyl-Free Base Porphyrin Dimer.

Photoexcited organic chromophores appended to molecular qubits can serve as a source of spin initialization or multilevel qudit generation for quantum information applications. So far, this approach has been primarily investigated in chromophore-stable radical systems. Here, we extend this concept to a linked oxovanadium(IV) porphyrin-free-base porphyrin dimer.

A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.

DICER1 syndrome is an autosomal-dominant disorder that results in malignant or benign tumors. A number of distinct pathogenic germline and somatic variants have been identified as causing multinodular goiter (MNG). The purpose of the present study was to identify and characterize the genetic cause underlying the familial form of MNG through a whole-exome sequencing (WES) analysis in an Argentine family with three affected siblings.

Many-Body Models for Chirality-Induced Spin Selectivity in Electron Transfer.

We present the first microscopic model for the chirality-induced spin selectivity effect in electron-transfer, in which the internal degrees of freedom of the chiral bridge are explicitly included. By exactly solving this model on short chiral chains we demonstrate that a sizable spin polarization on the acceptor arises from the interplay of coherent and incoherent dynamics, with strong electron-electron correlations yielding many-body states on the bridge as crucial ingredients. Moreover, we include the coherent and incoherent dynamics induced by interactions with vibrational modes and show that they can play an important role in determining the long-time polarized state probed in experiments.

Periodontitis and Depressive Disorders: The Effects of Antidepressant Drugs on the Periodontium in Clinical and Preclinical Models: A Narrative Review.

: Several psychological conditions, including stress and depression, can adversely affect oral health; in fact, antidepressants, commonly used to treat depressive disorders, may have conflicting effects on the periodontal status of individuals. The aim of this review was to determine the effects of antidepressants on the periodontium. A literature search was conducted using electronic databases, Pubmed/MEDLINE, Cochrane Library, focusing on the use of antidepressants and their effects on periodontal health in animals or humans.

Fault-tolerant computing with single-qudit encoding in a molecular spin.

We show that molecular spins represent ideal materials to realize a fault-tolerant quantum computer, in which all quantum operations include protection against leading (dephasing) errors. This is achieved by pursuing a qudit approach, in which logical error-corrected qubits are encoded in a single multi-level molecule (a qudit) and not in a large collection of two-level systems, as in standard codes. By preventing such an explosion of resources, this emerging way of thinking about quantum error correction makes its actual implementation using molecular spins much closer.

An Equity-Focused Assessment of Evidence-Based Parenting Intervention Research.

Evidence-based parenting interventions (EBPI) support children and families to promote resilience, address emotional and behavioral concerns, and prevent or address issues related to child maltreatment. Critiques of EBPIs include concerns about their relevance and effectiveness for diverse populations when they are implemented at population scale. Research methods that center racial equity and include community-based participatory approaches have the potential to address some of these concerns.

[Oral manifestations in Crohn's disease - Two patient cases from the clinic].

Crohn’s disease (CD) is an inflammatory disease of the gastrointestinal system. It is suspected to be caused by a combination of genetic and environmental factors and changes in the patient’s intestinal microbiome. As opposed to colitis ulcerosa, which usually only affects the large intestine, CD may affect various parts of the gastrointestinal tract.

Clinical Use of Paraprobiotics for Pregnant Women with Periodontitis: Randomized Clinical Trial.

Periodontal disease is very common in pregnant women. Paraprobiotics are a subset of probiotics. They can be defined as inactivated microbial cells providing health benefits to the host and are considered particularly safe.

Changes in diagnostic patterns and resource utilisation in Swiss adult ICUs during the first two COVID-19 waves: an exploratory study.

Background And Aim: The coronavirus disease 2019 (COVID-19) outbreak deeply affected intensive care units (ICUs). We aimed to explore the main changes in the distribution and characteristics of Swiss ICU patients during the first two COVID-19 waves and to relate these figures with those of the preceding two years.

Methods: Using the national ICU registry, we conducted an exploratory study to assess the number of ICU admissions in Switzerland and their changes over time, characteristics of the admissions, the length of stay (LOS) and its trend over time, ICU mortality and changes in therapeutic nursing workload and hospital resources in 2020 and compare them with the average figures in 2018 and 2019.

Cognitive, psychological, and physiological effects of a web-based mindfulness intervention in older adults during the COVID-19 pandemic: an open study.

Background: The development of effective strategies to maintain good mental health of older adults is a public health priority. Mindfulness-based interventions have the potential to improve psychological well-being and cognitive functions of older adults, but little is known about the effect of such interventions when delivered through internet. During the COVID-19 pandemic we evaluated short- and long-term cognitive, psychological, and physiological effects of a mindfulness-based intervention (MBI) delivered via web-based videoconference in healthy older adults.

Molecular nanomagnets: a viable path toward quantum information processing?

Molecular nanomagnets (MNMs), molecules containing interacting spins, have been a playground for quantum mechanics. They are characterized by many accessible low-energy levels that can be exploited to store and process quantum information. This naturally opens the possibility of using them as qudits, thus enlarging the tools of quantum logic with respect to qubit-based architectures.

Caregiver report of social-emotional functioning in infants and young children after inflicted traumatic brain injury.

Social-emotional difficulties are common sequelae of traumatic brain injury (TBI). Children who have experienced inflicted TBI (iTBI) may be at increased risk for social-emotional problems due to the risk factors associated with both early neurologic injury and with child maltreatment. We characterized the associations among injury severity, caregiver type (i.

Proof-of-Concept Quantum Simulator Based on Molecular Spin Qudits.

The use of -level qudits instead of two-level qubits can largely increase the power of quantum logic for many applications, ranging from quantum simulations to quantum error correction. Magnetic molecules are ideal spin systems to realize these large-dimensional qudits. Indeed, their Hamiltonian can be engineered to an unparalleled extent and can yield a spectrum with many low-energy states.

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.

Hypopituitarism, or the failure to secrete hormones produced by the anterior pituitary (adenohypophysis) and/or to release hormones from the posterior pituitary (neurohypophysis), can be congenital or acquired. When more than one pituitary hormone axis is impaired, the condition is known as combined pituitary hormone deficiency (CPHD). The deficiency may be primarily due to a hypothalamic or to a pituitary disorder, or concomitantly both, and has a negative impact on target organ function.

Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.

Objective: To characterize adherence to Phenylketonuria (PKU) management practices among PKU patients treated at reference sites around Argentina, Brazil, and Mexico.

Methods: This is a retrospective, observational, multicenter, and multinational survey-based study using aggregate data. From an initial list of 40 sites, 22 clinicians expressed interest in completing the survey, with 20 clinicians from 20 unique sites fulfilling all the study criteria.

The role of fellowship experience in decreasing burnout for child abuse pediatricians.

Background: Compassion fatigue and burnout are important issues within the medical field, and may be an even bigger problem for Child Abuse Pediatricians (CAPs). While the Accreditation Council for Graduate Medical Education (ACGME) mandates educational activities focused on burnout and resilience, there is currently minimal data to inform the choice and implementation of these activities.

Objective: Our objectives were to: determine the availability and perceived usefulness of educational activities related to burnout and resilience available in CAP fellowships; and explore the relationship between fellowship activities and burnout.

Neutrophils' Contribution to Periodontitis and Periodontitis-Associated Cardiovascular Diseases.

Neutrophils represent the primary defense against microbial threats playing a pivotal role in maintaining tissue homeostasis. This review examines the multifaceted involvement of neutrophils in periodontitis, a chronic inflammatory condition affecting the supporting structures of teeth summarizing the contribution of neutrophil dysfunction in periodontitis and periodontal-related comorbidities. Periodontitis, a pathological condition promoted by dysbiosis of the oral microbiota, is characterized by the chronic inflammation of the gingiva and subsequent tissue destruction.

Direct observation of chirality-induced spin selectivity in electron donor-acceptor molecules.

The role of chirality in determining the spin dynamics of photoinduced electron transfer in donor-acceptor molecules remains an open question. Although chirality-induced spin selectivity (CISS) has been demonstrated in molecules bound to substrates, experimental information about whether this process influences spin dynamics in the molecules themselves is lacking. Here we used time-resolved electron paramagnetic resonance spectroscopy to show that CISS strongly influences the spin dynamics of isolated covalent donor-chiral bridge-acceptor (D-Bχ-A) molecules in which selective photoexcitation of D is followed by two rapid, sequential electron-transfer events to yield D-Bχ-A.

Chiral-induced spin selectivity in photo-induced electron transfer: Investigating charge and spin dynamics in a master equation framework.

Investigating the role of chiral-induced spin selectivity in the generation of spin correlated radical pairs in a photoexcited donor-chiral bridge-acceptor system is fundamental to exploit it in quantum technologies. This requires a minimal master equation description of both charge separation and recombination through a chiral bridge. To achieve this without adding complexity and entering in the microscopic origin of the phenomenon, we investigate the implications of spin-polarizing reaction operators to the master equation.

outbreak, Northern Italy 2021.

Objective: We report an outbreak of 14 cases of Q fever among tourists caused by an infected calf and characterized by respiratory transmission and a high attack rate in humans.

Materials And Methods: Following the identification of an index case of Q fever in September 2021, an epidemiological investigation was conducted in collaboration with local Health and Veterinary authorities and an unknown outbreak was discovered and terminated.

Results: The outbreak originated from the delivery by an infected cow, with spread of by air and infection via the respiratory route.

Chirality-Induced Spin Selectivity: An Enabling Technology for Quantum Applications.

Molecular spins are promising building blocks of future quantum technologies thanks to the unparalleled flexibility provided by chemistry, which allows the design of complex structures targeted for specific applications. However, their weak interaction with external stimuli makes it difficult to access their state at the single-molecule level, a fundamental tool for their use, for example, in quantum computing and sensing. Here, an innovative solution exploiting the interplay between chirality and magnetism using the chirality-induced spin selectivity effect on electron transfer processes is foreseen.

Observational, Multicenter Study on the Efficacy, Tolerability, and Safety of Nintedanib in Patients with Idiopathic Pulmonary Fibrosis Older than 80 Years.

Background: Idiopathic pulmonary fibrosis (IPF) primarily affects old patients. Old age is a predictor of mortality. Nintedanib, the only antifibrotic drug approved in Italy for patients aged >80 years, can slow the progression of IPF by reducing the rate of decline in forced vital capacity (FVC) and the risk of exacerbations.