Curating genomic disease-gene relationships with Gene2Phenotype (G2P).

Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnostic use. Here, we present a structured curation process for Gene2Phenotype (G2P).

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.

Potocki-Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the plant homeodomain finger protein 21A (PHF21A) gene. PHF21A has an important role in epigenetic regulation and PHF21A variants have previously been associated with a specific disorder that, whilst sharing some features of PSS, has notable differences.

Soluble Non-Starch Polysaccharides From Plantain ( L.) Diminish Epithelial Impact of .

infection (CDI) is a leading cause of antibiotic-associated diarrhoea. Adhesion of this Gram-positive pathogen to the intestinal epithelium is a crucial step in CDI, with recurrence and relapse of disease dependent on epithelial interaction of its endospores. Close proximity, or adhesion of, hypervirulent strains to the intestinal mucosa are also likely to be necessary for the release of toxins, which when internalized, result in intestinal epithelial cell rounding, damage, inflammation, loss of barrier function and diarrhoea.

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.

Background: Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII.

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.

With the ongoing COVID-19 (Coronavirus Disease 2019) pandemic, caused by the novel coronavirus SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2), there is a need for sensitive, specific, and affordable diagnostic tests to identify infected individuals, not all of whom are symptomatic. The most sensitive test involves the detection of viral RNA using RT-qPCR (quantitative reverse transcription PCR), with many commercial kits now available for this purpose. However, these are expensive, and supply of such kits in sufficient numbers cannot always be guaranteed.

NF-κB2 signalling in enteroids modulates enterocyte responses to secreted factors from bone marrow-derived dendritic cells.

Alternative pathway NF-κB signalling regulates susceptibility towards developing inflammatory bowel disease (IBD), colitis-associated cancer and sepsis-associated intestinal epithelial cell apoptosis and shedding. However, the cell populations responsible for the perturbed alternative pathway NF-κB signalling in intestinal mucosal pathology remain unclear. In order to investigate the contribution of the epithelial compartment, we have tested whether NF-κB2 regulated transcription in intestinal epithelial cells controls the intestinal epithelial response to cytokines that are known to disrupt intestinal barrier permeability.

A Reassessment of Genes Modulating Aging in Mice Using Demographic Measurements of the Rate of Aging.

Many studies have reported genetic interventions that have an effect on mouse life span; however, it is crucial to discriminate between manipulations of aging and aging-independent causes of life extension. Here, we used the Gompertz equation to determine whether previously reported aging-related mouse genes statistically affect the demographic rate of aging. Of 30 genetic manipulations previously reported to extend life span, for only two we found evidence of retarding demographic aging: and Of 24 genetic manipulations reported to shorten life span and induce premature aging features, we found evidence of five accelerating demographic aging: , , -β, , and Overall, our reassessment found that only 15% of the genetic manipulations analyzed significantly affected the demographic rate of aging as predicted, suggesting that a relatively small proportion of interventions affecting longevity do so by regulating the rate of aging.

Books on Prescription - community-based health initiative to increase access to mental health treatment: an evaluation.

Objective: To evaluate the implementation of a regional Books on Prescription (BoP) programme.

Methods: Seven data collection pathways were used to provide indicators of program implementation, utilisation, acceptability and reach.

Results: BoP is seen by prescribers, librarians and consumers as a valuable mental health resource.

A Lilliputian army under the floorboards: persistent delirium with complete though prolonged recovery.

We report the case of an 83-year-old man who presented with a history of fluctuating delirium of insidious onset, secondary to an amoebic liver abscess more than 30 years after acute exposure. We describe a 2-year clinical journey that started with a fall and was additionally complicated by severe weight loss and acute kidney injury (AKI). The likely prognosis for such a combination of comorbidities in an older person is for lasting morbidity, institutionalisation and significant mortality.

Right atrial mass in patient undergoing chemotherapy.

A 58-year-old lady, with a Hickman line in situ for chemotherapy for invasive ductal breast carcinoma, presented with fever. Blood cultures grew coagulase negative staphylococci. Transoesophageal echocardiography revealed a mass in the right atrium in the region of the Eustachian apparatus.

Patient motion correction for multiplanar, multi-breath-hold cardiac cine MR imaging.

Purpose: To correct for spatial misregistration of multi-breath-hold short-axis (SA), two-chamber (2CH), and four-chamber (4CH) cine cardiac MR (CMR) images caused by respiratory and patient motion.

Materials And Methods: Twenty CMR studies from consecutive patients with separate breath-hold 2CH, 4CH, and SA 20-phase cine images were considered. We automatically registered the 2CH, 4CH, and SA images in three dimensions by minimizing the cost function derived from plane intersections for all cine phases.

The development of a Spanish language version of the Worn Out scale of the General Well-Being Questionnaire (GWBQ).

The paper describes the development of a short Spanish-language version of the General Well-Being Questionnaire (GWBQ; Cox and Gotts, 1987), based on the 12 items of its Worn Out scale. Research has shown the English-version Worn Out scale to be sensitive to aspects of the design and management of work. This study aimed to test its cross-cultural consistency in a Spanish-language workplace context.

Evidence for a common pattern of peptidergic innervation of cnidocytes.

Tentacles from representatives of all four classes of the phylum Cnidaria were examined using antibodies against the neuropeptides FMRFamide and RFamide to reveal the organization of neurons and nerve nets associated with cnidocytes. The tentacles of all species examined contained FMRFamide- or RFamide-immunoreactive neurons, in varying densities. In representatives from the Scyphozoa, Hydrozoa, and Cubozoa, the FMRFamide-immunoreactive neurons formed plexuses at the base of the cnidocyte assemblages; in anthozoans, the absence of discrete assemblies of cnidocytes precluded visual co-localization of cnidocytes and immunoreactive neurons.