Epidemiology of constipation and its associated factors in an ageing population of people with an intellectual disability in Ireland: A cross-sectional study.

Constipation impacts health-related quality of life with a burden similar to other chronic conditions. This study characterises the prevalence of constipation and its associated factors in older adults with intellectual disability. Data from the Intellectual Disability Supplement of The Irish Longitudinal Study on Ageing was analysed using bivariate and multivariate approaches.

Monitoring post-spawning movement, habitat use, and survival of adult anadromous rainbow smelt using acoustic telemetry in a New Hampshire estuary.

Anadromous rainbow smelt (Osmerus mordax, [Mitchill 1814]) are found along the northeast Atlantic coastline of North America, with their range now limited to north of Cape Cod, Massachusetts, USA. Although their anadromous life cycles are described broadly, gaps remain regarding how adult rainbow smelt use estuaries post-spawning, including movement behaviors, habitats used, and specific timing of emigration to coastal waters. In spring 2021, we used acoustic telemetry to characterize movements during and after the spawning season of rainbow smelt captured in tributaries to Great Bay, New Hampshire, USA, a large estuarine system near the southern edge of their range.

Overweight/obesity and chronic health conditions in older people with intellectual disability in Ireland.

Background: This study examines overweight/obesity and chronic health conditions (CHCs) in older people with intellectual disability (ID).

Methods: Data for this cross-sectional observational study emanated from Wave 2 of the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing, a longitudinal study assessing the health and well-being of older Irish adults with ID aged ≥40 years across all levels of ID. Participation involves an interview process and collation of objective health measures.

Autoimmune Disease and Breast Implants: Systematic Review of Outcomes.

Given that the use of breast implants for both cosmetic and reconstructive purposes is growing in the United States, an evaluation of factors that may affect the outcome of breast implant surgery is needed. A systematic review was conducted to evaluate the question: Does a personal or family history of autoimmune disease affect outcomes in breast implant surgery? The literature search yielded 2425 records, but after removal of duplicates, abstract screening, and full-text assessment, only 2 studies met the inclusion criteria for the final review. Both studies provided level III evidence and the average Methodological Index for Non-Randomized Studies score was 16.

Compound heterozygous variants in progressive myoclonus epilepsy.

KCTD7 is a member of the potassium channel tetramerization domain-containing protein family and has been associated with progressive myoclonic epilepsy (PME), characterized by myoclonus, epilepsy, and neurological deterioration. Here we report four affected individuals from two unrelated families in which we identified compound heterozygous single nucleotide variants through exome sequencing. RNAseq was used to detect a non-annotated splicing junction created by a synonymous variant in the second family.

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

Waardenburg syndrome (WS) is a group of genetic disorders associated with varying components of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and eyes. There exist four different WS subtypes, each defined by the absence or presence of additional features. One of the genes associated with WS is SOX10, a key transcription factor for the development of neural crest-derived lineages.

HO oxidation of cysteine residues in c-Jun N-terminal kinase 2 (JNK2) contributes to redox regulation in human articular chondrocytes.

Reactive oxygen species (ROS), in particular HO, regulate intracellular signaling through reversible oxidation of reactive protein thiols present in a number of kinases and phosphatases. HO has been shown to regulate mitogen-activated protein kinase (MAPK) signaling depending on the cellular context. We report here that in human articular chondrocytes, the MAPK family member c-Jun N-terminal kinase 2 (JNK2) is activated by fibronectin fragments and low physiological levels of HO and inhibited by oxidation due to elevated levels of HO The kinase activity of affinity-purified, phosphorylated JNK2 from cultured chondrocytes was reversibly inhibited by 5-20 μm HO Using dimedone-based chemical probes that react specifically with sulfenylated cysteines (RSOH), we identified Cys-222 in JNK2, a residue not conserved in JNK1 or JNK3, as a redox-reactive site.

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Mitochondrial aminoacyl-tRNA synthetases (mtARSs) are essential, ubiquitously expressed enzymes that covalently attach amino acids to their corresponding tRNA molecules during translation of mitochondrial genes. Deleterious variants in the mtARS genes cause a diverse array of phenotypes, many of which involve the nervous system. Moreover, distinct mutations in mtARSs often cause different clinical manifestations.

Genetic variation and geographic differentiation in the marine triclad (Platyhelminthes, Tricladida, Maricola), ectocommensal on the American horseshoe crab .

(Platyhelminthes, Tricladida, Maricola) is an ectocommensal symbiont on the American horseshoe crab , living on the book gills and appendages, where it spends its entire life. Given its limited dispersal capabilities and its inability to live outside of the host, we hypothesized a genetic structure that parallels that of its host. We obtained 84 planarian individuals from 19 horseshoe crabs collected from 10 sites from Massachusetts to Florida.

An exploration of the bone health of older adults with an intellectual disability in Ireland.

Background: Many risk factors have been confirmed for poor bone health among the general population including age, gender and corticosteroid use. There is a paucity of investigation among people with intellectual disability; however, research points to differing risks namely anti-epileptic medication use, Down syndrome and poor behaviour lifestyle.

Methods: Data was extracted from the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing in Ireland.

Cysteine-Mediated Redox Regulation of Cell Signaling in Chondrocytes Stimulated With Fibronectin Fragments.

Objective: Oxidative posttranslational modifications of intracellular proteins can potentially regulate signaling pathways relevant to cartilage destruction in arthritis. In this study, oxidation of cysteine residues to form sulfenic acid (S-sulfenylation) was examined in osteoarthritic (OA) chondrocytes and investigated in normal chondrocytes as a mechanism by which fragments of fibronectin (FN-f) stimulate chondrocyte catabolic signaling.

Methods: Chondrocytes isolated from OA and normal human articular cartilage were analyzed using analogs of dimedone that specifically and irreversibly react with protein S-sulfenylated cysteines.

Pretransplant cachexia and morbid obesity are predictors of increased mortality after heart transplantation.

Background: Extremes in body weight are a relative contraindication to cardiac transplantation.

Methods: We retrospectively reviewed 474 consecutive adult patients (377 male, 97 female, mean age 50.3+/-12.

New techniques for predicting solar proton fluences for radiation effects applications.

At geosynchronous altitudes, solar proton events can be a significant source of radiation exposure for devices such as optical imagers, memories and solar cells. These events appear to occur randomly with respect to time and magnitude during the active period of each solar cycle. New probabilistic descriptions, including extreme value theory, are given in forms applicable to assessing mission risks for both single events and the cumulative fluence of multiple events.

Extreme Value Theory Applications to Space Radiation Damage Assessment in Satellite Microelectronics.

Calculations of the first and second moments of displacement damage energy distributions from clastic collisions and from nuclear reactions, at proton energies ranging from 10 MeV to 300 MeV, are incorporated into a model describing the probability of damage as a function of the proton fluence and the size of the sensitive micro-volume in Si. Comparisons between the predicted and measured leakage currents in Si imaging arrays illustrate how the Poisson distribution of higher energy nuclear reaction recoils affects the pixel-to-pixel variance in the damage across the array for proton exposures equivalent to mission duration of a few years within the earth's trapped proton belts. Extreme value statistics (EVS) quantify the largest expected damage extremes following a given proton fluence, and an analysis derived from the first-principle damage calculations shows excellent agreement with the measured extremes.

Energy deposition and ionization fluctuations induced by ions in small sites--an analytical approach.

A concise, analytical approach is developed for calculating energy deposition and ionization fluctuations in volumes within ion-irradiated media which have dimensions as small as 1 nm. The method accounts for both direct ion interactions with the site and interactions of secondary electrons which are produced by ions in the surrounding medium. Particular attention is given to the way the contributions of the two types of events are combined.