Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.

Background: Tuberous sclerosis complex (TSC) is a rare approximate 1:6000 birth incidence, a genetic disease with a wide variability of physical and neuropsychiatric symptoms. Patients require lifelong care from multiple healthcare specialities, for which International and United Kingdom (UK) TSC consensus recommendations exist. Personalised care delivered by a centralised coordinated team of TSC experts is recommended.

Information needs of women with BRCA mutations regarding cancer risk management and decision-making.

Purpose: Providing women who have tested positive for a pathogenic variant in BRCA1 or BRCA 2 relevant information can help them to make informed decisions about managing their cancer risk. However, there is a lack of targeted informational support for BRCA positive women specific to the Irish context. The objective of this study is to identify the information needs of women diagnosed with a pathogenic variant in BRCA1 or BRCA 2 regarding cancer risk management and decision-making.

Chirality induction to porphyrin derivatives co-confined at the air-water interface with silica nano-helices: towards enantioselective thin solid film surfaces.

A supramolecular approach based on self-assembled structures allows the formation of large structured co-assemblies based on chiral and achiral compounds with original physicochemical features. In this contribution, an achiral and hydrophobic porphyrin was co-assembled at the air-water interface with mesoscopic silica nano-helices dispersed in the water subphase of a Langmuir trough without covalent bond formation. This procedure allowed transferring the porphyrin/nano-helix co-assemblies on a solid support within a thin hybrid layer.

Understanding X-ray-induced isomerisation in photoswitchable surfactant assemblies.

Dynamic, responsive materials can be built using photosurfactants (PS) that self-assemble into ordered nanostructures, such as micelles or liquid crystals. These PS contain photoswitchable groups, such as azobenzene (Azo) or, more recently, arylazopyrazoles (AAPs), which change shape and polarity on photoisomerisation between the and states, thus changing the self-assembled structure. Small-angle X-ray scattering (SAXS) is a powerful technique to probe the morphology of PS and can be used to measure the mechanisms of structural changes using in-situ light irradiation with rapid, time-resolved data collection.

Neuroimaging and Clinical Findings in Healthy Middle-Aged Adults With Mild Traumatic Brain Injury in the PREVENT Dementia Study.

Importance: Traumatic brain injuries (TBI) represent an important, potentially modifiable risk factor for dementia. Despite frequently observed vascular imaging changes in individuals with TBI, the relationships between TBI-associated changes in brain imaging and clinical outcomes have largely been overlooked in community cases of TBI.

Objective: To assess whether TBI are associated with and interact with midlife changes in neuroimaging and clinical features in otherwise healthy individuals.

Fathers' experiences, views and perspectives of childbirth attendance: A qualitative evidence synthesis protocol.

Background: The involvement of husbands and male partners in childbirth no longer ceases at conception and pregnancy, rather fathers wish to be more involved in supporting their partners during childbirth. This aligns with the World Health Organization's (WHO) call for promoting male participation in childbirth, emphasising the benefits of support and the positive impact attending childbirth has for husbands/partners, and their maternal partner. This knowledge has led to global initiatives promoting "humanised" birth and a family-approach.

Quantifying near-symmetric molecular distortion using symmetry-coordinate structural decomposition.

We imagine molecules to be perfect, but rigidified units can be designed to bend from their ideal shape, discarding their symmetric elements as they progress through vibrations and larger, more permanent distortions. The shape of molecules is either simulated or measured by crystallography and strongly affects chemical properties but, beyond an image or tabulation of atom-to-atom distances, little is often discussed of the accessed conformation. We have simplified the process of shape quantification across multiple molecular types with a new web-accessible program - SCSD - through which a molecular subunit possessing near-symmetry can be dissected into symmetry coordinates with ease.

The effectiveness of neck stretching exercises in alleviating neck pain and self-reported disability after thyroidectomy: A systematic review and meta-analysis of clinical trials.

Thyroidectomy can lead to significant challenges such as neck pain, disability, and limited range of motion. Therefore, our objective is to conduct a systematic review and meta-analysis of clinical trials to investigate the clinical effectiveness of neck stretching exercises in alleviating neck pain and self-reported disability immediately after thyroidectomy. We systematically searched PubMed, CENTRAL, Scopus, and Web of Science from inception until July 28th, 2023.

Prenatal intention to human milk feed in the native Hawaiian population: predictors of any human milk feeding from birth to six months postpartum.

Background: Rates of non-communicable diseases are disproportionately high among Native Hawaiian (NH) people, and the proportion of NH infants being fed human milk (HM) is the lowest among all ethnicities within the state of Hawai'i. The aim of this study was to explore biological, socio-economic, and psychosocial determinants of the initiation and duration of human milk feeding (HMF) among a study of NH mothers and infants.

Methods: A sample of 85 NH mother-infant dyads who were participating in a larger prospective study were involved in this research.

Causes and Terminology in Neonatal Encephalopathy: What is in a Name? Neonatal Encephalopathy, Hypoxic-ischemic Encephalopathy or Perinatal Asphyxia.

Neurologic depression in term/near-term neonates (neonatal encephalopathy, NE) is uncommon with modern obstetric care. Asphyxial birth, with or without co-factors, accounts for a minority of NE, while maldevelopment (congenital malformations, growth aberrations, genetic, metabolic and placental abnormalities) plays an enlarging role in identifying etiologic subgroups of NE. The terms NE and hypoxic-ischemic encephalopathy (HIE) have not been employed uniformly, hampering research and clinical care.

In silico modeling the potential clinical effect of growth factor treatment on the metabolism of human nucleus pulposus cells.

Background: While growth factors have the potential to halt degeneration and decrease inflammation in animal models, the literature investigating the effect of dosage on human cells is lacking. Moreover, despite the completion of clinical trials using growth differentiation factor-5 (GDF-5), no results have been publicly released.

Aims: The overall objective was to quantitatively assess the effect of three clinically relevant concentrations of GDF-5 (0.

The impact of global falsified medicines regulation on healthcare stakeholders in the legitimate pharmaceutical supply chain: a systematic review.

Background: Falsified medicines and their international regulation impacts all healthcare sectors and their actors. These regulations aim to strengthen and protect the global pharmaceutical supply chain against falsified medicines. However, an evaluation of the impacts of these regulations on key stakeholders within the legitimate supply chain have not been explored.

Event-responsive scanning transmission electron microscopy.

An ever-present limitation of transmission electron microscopy is the damage caused by high-energy electrons interacting with any sample. By reconsidering the fundamentals of imaging, we demonstrate an event-responsive approach to electron microscopy that delivers more information about the sample for a given beam current. Measuring the time to achieve an electron count threshold rather than waiting a predefined constant time improves the information obtained per electron.

The biomechanics of splitting hairs.

Splitting of hair, creating 'split ends', is a very common problem which has been extensively documented. However, the mechanics underlying the splitting phenomenon are poorly understood. This is partly owing to the lack of a test in which splitting can be generated and quantified under laboratory conditions.

Texture-based morphometry in relation to apolipoprotein ε4 genotype, ageing and sex in a midlife population.

Brain atrophy and cortical thinning are typically observed in people with Alzheimer's disease (AD) and, to a lesser extent, in those with mild cognitive impairment. In asymptomatic middle-aged apolipoprotein ε4 (ΑPOE4) carriers, who are at higher risk of future AD, study reports are discordant with limited evidence of brain structural differences between carriers and non-carriers of the ε4 allele. Alternative imaging markers with higher sensitivity at the presymptomatic stage, ideally quantified using typically acquired structural MRI scans, would thus be of great benefit for the detection of early disease, disease monitoring and subject stratification.

Tilted-Plane Structure of the Energy of Finite Quantum Systems.

The piecewise linearity condition on the total energy with respect to the total magnetization of finite quantum systems is derived using the infinite-separation-limit technique. This generalizes the well-known constancy condition, related to static correlation error, in approximate density functional theory. The magnetic analog of Koopmans' theorem in density functional theory is also derived.

Characterizing the distribution pattern of traffic-related air pollutants in near-road neighborhoods.

In near-road neighborhoods, residents are more frequently exposed to traffic-related air pollution (TRAP), and they are increasingly aware of pollution levels. Given this consideration, this study adopted portable air pollutant sensors to conduct a mobile monitoring campaign in two near-road neighborhoods, one in an urban area and one in a suburban area of Shanghai, China. The campaign characterized spatiotemporal distributions of fine particulate matter (PM) and black carbon (BC) to help identify appropriate mitigation measures in these near-road micro-environments.

Toxic eburicol accumulation drives the antifungal activity of azoles against Aspergillus fumigatus.

Azole antifungals inhibit the sterol C14-demethylase (CYP51/Erg11) of the ergosterol biosynthesis pathway. Here we show that the azole-induced synthesis of fungicidal cell wall carbohydrate patches in the pathogenic mold Aspergillus fumigatus strictly correlates with the accumulation of the CYP51 substrate eburicol. A lack of other essential ergosterol biosynthesis enzymes, such as sterol C24-methyltransferase (Erg6A), squalene synthase (Erg9) or squalene epoxidase (Erg1) does not trigger comparable cell wall alterations.

A PROGRESS-driven approach to cognitive outcomes after traumatic brain injury: A study protocol for advancing equity, diversity, and inclusion through knowledge synthesis and mobilization.

Evidence syntheses for advancing equitable traumatic brain injury (TBI) research, policy, and practice presents formidable challenges. Research and clinical frameworks are currently not specific to equity, diversity, and inclusion considerations, despite evidence that persons with TBI live in societies in which power imbalances and systems of social dominance may privilege some people and marginalize others. The present protocol outlines a strategy for a research program, supported by the Canadian Institutes of Health Research, that explores the integration of PROGRESS-Plus parameters in research with the goal of advancing open-science databases and tools to improve our understanding of equity in cognitive and brain health outcomes in TBI.

Solution studies, synthesis and antibacterial activity of Ga(III) complexes with bis-kojate derivatives.

Given the recognized major problem of microbial drug resistance for human health, new metal-based drugs have been currently explored for their antimicrobial properties, including gallium-based compounds as potential metallophores that could perturb Fe's interactions with proteins. Herein we have designed and synthesized two bis-kojate ligands (named L4 and L6) and studied their Ga(III) complexes for their physico-chemical and biological properties. In particular a detailed study of their complexation properties in aqueous solution, showed equilibrium models with formation of quite stable dinuclear 2:3 metal:ligand complexes, though with different stability.

Zinc-Binding Oligonucleotide Backbone Modifications for Targeting a DNA-Processing Metalloenzyme.

A series of chemically-modified oligonucleotides for targeting the DNA repair nuclease SNM1A have been designed and synthesised. Each oligonucleotide contains a modified internucleotide linkage designed to both mimic the native phosphodiester backbone and chelate to the catalytic zinc ion(s) in the SNM1A active site. Dinucleoside phosphoramidites containing urea, squaramide, sulfanylacetamide, and sulfinylacetamide linkages were prepared and employed successfully in solid-phase oligonucleotide synthesis.

Computational methods for investigating organic radical species.

Computational analysis of organic radical species presents significant challenges. This study compares the efficacy of various DFT and wavefunction methods in predicting radical stabilisation energies, bond dissociation energies, and redox potentials for organic radicals. The hybrid meta-GGA M062X-D3(0), and the range-separated hybrids ωB97M-V and ωB97M-D3(BJ) emerged as the most reliable functionals, consistently providing accurate predictions across different basis sets including 6-311G**, cc-pVTZ, and def2-TZVP.