Substituent Effects on Cooperativity in Three-Component H-Bond Networks Involving Phenol-Phenol Interactions.

Cooperativity between H-bonding interactions in networks is a fundamental aspect of solvation and self-assembly in molecular systems. The interaction of a series of bisphenols, which make an intramolecular H-bond between the two hydroxyl groups, and quinuclidine was used to quantify cooperativity in three-component networks. The presence of the intramolecular H-bond in the bisphenols was established by using H NMR spectroscopy in solution and X-ray crystallography in the solid state.

Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.

Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved in the processing of small RNAs in the pathogenesis of SCAD. Furthermore, there may be a connection between SCAD and the increased cardiovascular risk observed in fragile X premutation carriers as well as a correlation with pathogenetic variants in genes encoding for collagen and extracellular matrix, which are related to connective tissue disorders (CTDs).

Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework.

Despite its clinical value, cascade genetic testing (CGT) in hereditary cancer syndromes remains underutilized for a number of reasons, including ineffective family communication of genetic risk information. Therefore, alternative strategies are being explored to improve CGT uptake rates; one such strategy is direct contact with at-risk relatives by healthcare professionals with proband consent. It is unclear how Italian laws and regulations pertaining to CGT-including the EU General Data Protection Regulation (GDPR)-should be understood and implemented in the context of such alternative strategies.

A Mixed Approach for Clock Synchronization in Distributed Data Acquisition Systems.

Proper timing synchronization is important when data from sensors are acquired by different devices. This paper proposes a simple but effective solution for System on Chip (SoC) architectures that integrates a general-purpose Field Programmable Gate Array (FPGA) with a CPU. The proposed approach relies on a network synchronization protocol implemented in software, such as Network Time Protocol (NTP) or Precision Time Protocol (PTP), and uses the FPGA to generate a clock reference that is maintained in step with the synchronized system clock.

7-Amino-[1,2,4]triazolo[1,5-a][1,3,5]triazines as CK1δ inhibitors: Exploring substitutions at the 2 and 5-positions.

CK1δ is a serine-threonine kinase involved in several pathological conditions including neuroinflammation and neurodegenerative disorders like Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis. Specifically, it seems that an inhibition of CK1δ could have a neuroprotective effect in these conditions. Here, a series of [1,2,4]triazolo[1,5-a][1,3,5]triazines were developed as ATP-competitive CK1δ inhibitors.

Fertility and Pregnancy-Related Issues in Young Carriers With Breast Cancer.

Approximately 10% to 15% of breast cancer cases in young women are diagnosed in patients harbouring germline (g) pathogenic or likely pathogenic variants (PVs) in the BReast CAncer 1 () or BReast CAncer 2 () genes. Preclinical and clinical studies showed a potential negative effect of germline 1/2 (g) PVs on ovarian reserve and reproductive potential, even before starting anticancer therapies. The aim of this article is to summarize the current literature on the fertility potential of young g PVs carriers with breast cancer and the risk of gonadotoxicity associated with anticancer treatments.

Post-extubation laryngitis in children: diagnosis, management and follow-up.

Objectives: To describe the occurrence of post-extubation laryngitis, analyze its one-year evolution, and correlate laryngeal lesions with clinical outcomes.

Methods: Retrospective study including children up to 13 years old at a tertiary hospital between March 2020 and March 2022 with diagnosis of post-extubation laryngitis confirmed by endoscopic examination. Exclusion criteria were prior history of intubation or anatomical airway abnormalities.

[Assessment of professional practices on the use of computerized medicine cabinets by registered nurses].

Ensuring the safety of patient medication management is a public health priority. In hospitals, the medication circuit involves risks, especially in terms of storage. As part of an institutional project, the deployment of computerized medicine cabinets in our hospital's care units was initiated in 2015.

Structural Investigations on 2-Amidobenzimidazole Derivatives as New Inhibitors of Protein Kinase CK1 Delta.

Protein kinase CK1δ (CK1δ) is a serine-threonine/kinase that modulates different physiological processes, including the cell cycle, DNA repair, and apoptosis. CK1δ overexpression, and the consequent hyperphosphorylation of specific proteins, can lead to sleep disorders, cancer, and neurodegenerative diseases. CK1δ inhibitors showed anticancer properties as well as neuroprotective effects in cellular and animal models of Parkinson's and Alzheimer's diseases and amyotrophic lateral sclerosis.

A Versatile Board for Event-Driven Data Acquisition.

Event-driven data acquisition is used to capture information from fast transient phenomena typically requiring a high sampling speed. This is an important requirement in the ITER Neutral Beam Test Facility for the development of one of the heating systems of the ITER nuclear fusion experiment. The Red Pitaya board has been chosen for this project because of its versatility and low cost.

Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.

Background: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. Although the typical disease onset is reported in the second decade, earlier onsets are not uncommon. To date, few studies on pediatric populations have been conducted and the achievement of molecular diagnosis remains challenging.

Effectiveness of photo-ozone therapy against equine Pythium insidiosum.

Cutaneous pythiosis is a life-threatening infectious disease. Low-level laser therapy (LLLT) and ozone (O) have been used individually in the treatment of infected wounds. The goals of the study were a) to characterize the antimicrobial action of the photo-ozone therapy (LLLT-O) against equine Pythium insidiosum, and b) to assess the cytotoxic potential of the LLLT-O in keratinocytes.

Genetics in Parkinson's disease, state-of-the-art and future perspectives.

Background: Parkinson's disease (PD) is the second most common neurodegenerative disorder and is clinically characterized by the presence of motor (bradykinesia, rigidity, rest tremor and postural instability) and non-motor symptoms (cognitive impairment, autonomic dysfunction, sleep disorders, depression and hyposmia). The aetiology of PD is unknown except for a small but significant contribution of monogenic forms.

Sources Of Data: No new data were generated or analyzed in support of this review.

Streamlining the diagnostic pathway for Lynch syndrome in colorectal cancer patients: a 10-year experience in a single Italian Cancer Center.

Background: Universal screening of colorectal cancer (CRC) patients for Lynch syndrome (LS) through MisMatch Repair (MMR) testing is recommended. BRAF V600E mutation and/or MLH1 promoter methylation (Reflex Testing, RefT)generally rule out LS in MLH1-deficient (dMLH1) patients. We estimated the impact of RefTon genetic counseling (GC) and on the diagnostic yield of genetic testing (GT).

The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis.

Endometrial cancer (EC) is the most frequent gynecological cancer. The ESGO/ESTRO/ESP 2020 guidelines identify prognostic groups based on morpho-molecular characteristics. This study aims to evaluate the clinical applicability of NGS analysis to define an appropriate risk class and to improve the diagnostic and prognostic stratification of ECs.

Case report: Episodic ataxia without ataxia?

Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely influenced by genetic and environmental modifiers. Genetic testing is often challenging due to ambiguous clinical diagnosis. Here, we present the case of a family with clinical and Electromyography (EMG) features resembling a myotonia-like disorder in which Whole Exome Sequencing (WES) analysis revealed the co-segregation of two rare missense variants in and , genes previously associated with episodic ataxia 8 (EA8).

Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.

Background And Objective: Early-onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next-generation sequencing (NGS) of PD-associated multigene panels. However, NGS interpretation can be challenging in a diagnostic setting, and few studies have addressed this issue so far.

Methods: We retrospectively collected data from 648 patients with PD with age at onset younger than 55 years who underwent NGS of a minimal shared panel of 15 PD-related genes, as well as PD-multiplex ligation-dependent probe amplification in eight Italian diagnostic laboratories.

Synchronous and metachronous primary colorectal cancers with concordant and discordant mismatch repair status.

Multiple primary colorectal carcinomas (CRCs) synchronous, when detected approximately at the same time, or metachronous, when a significant amount of time has elapsed between diagnoses can show both mismatch repair (MMR) status concordance and discordance between primary tumors. The aim was to evaluate the MMR status of a monoinstitutional, retrospective cohort of synchronous and metachronous CRCs, with a focus on the frequency of cases with discordant MMR status, and explore the MMR status of metastatic nodal deposits. All synchronous and metachronous CRCs diagnosed in our institution between 2011 and 2023 were collected.

[1,2,4]Triazolo[1,5-c]pyrimidines as Tools to Investigate A Adenosine Receptors in Cancer Cell Lines.

The A adenosine receptor is an interesting target whose role in cancer is controversial. In this work, a structural investigation at the 2-position of the [1,2,4]triazolo[1,5-c]pyrimidine nucleus was performed, finding new potent and selective A adenosine receptor antagonists such as the ethyl 2-(4-methoxyphenyl)-5-(methylamino)-[1,2,4]triazolo[1,5-c]pyrimidine-8-carboxylate (20, DZ123) that showed a K value of 0.47 nM and an exceptional selectivity profile over the other adenosine receptor subtypes.

Neural oscillations modulation during working memory in pre-manifest and early Huntington's disease.

Introduction: We recently demonstrated specific spectral signatures associated with updating of memory information, working memory (WM) maintenance and readout, with relatively high spatial resolution by means of high-density electroencephalography (hdEEG). WM is impaired already in early symptomatic HD (early-HD) and in pre-manifest HD (pre-HD). The aim of this study was to test whether hdEEG coupled to source localization allows for the identification of neuronal oscillations in specific frequency bands in 16 pre-HD and early-HD during different phases of a WM task.

Governance in the implementation of the UN sustainable development goals in higher education: global trends.

Governance is a key component for implementing sustainable development (SD) initiatives in university teaching, research, and projects. This line of thinking also applies to implementing the United Nations (UN) sustainable development goals (SDGs). Despite the role of governance in guiding processes related to the SDGs, few studies have examined these relations in an integrative manner in higher education.

Longitudinal Outcomes of the top 20 Utilizers of VA Connecticut's Psychiatric Emergency Services Between 2010 and 2020.

Frequent utilizers of emergency services represent a clinically important cohort with potentially unmet health care needs despite demanding a high volume of costly services. However, not much is known about their longitudinal course. This study identified the top 20 utilizers of VA Connecticut's psychiatric emergency services and conducted a chart review of their longitudinal outcomes during an 11-year period between 2010 and 2020, including their visit diagnoses, medical and psychiatric comorbidities, and types and frequency of other medical services and supports received.

Germline TP53 pathogenic variants and breast cancer: A narrative review.

Approximately 10% of breast cancers are associated with the inheritance of a pathogenic variant (PV) in one of the breast cancer susceptibility genes. Multiple breast cancer predisposing genes, including TP53, are responsible for the increased breast cancer risk. Tumor protein-53 (TP53) germline PVs are associated with Li-Fraumeni syndrome, a rare autosomal dominant inherited cancer predisposition syndrome associated with early-onset pediatric and multiple primary cancers such as soft tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinomas and leukemias.