Tagging is Connecting: Shared Object Memories as Channels for Sociocultural Cohesion

Leder, K., Karpovich, A,. Burke, M., Speed, C., Hudson-Smith, A., O'Callaghan, S., Simpson, M., (2010) Tagging is Connecting: Shared Object Memories as Channels for Sociocultural Cohesion. M/C Journal, Vol. 13, No. 1 (2010) - 'cohesion

Systematic review and metaanalysis comparing the bias and accuracy of the modification of diet in renal disease and chronic kidney disease epidemiology collaboration equations in community-based population

BACKGROUND: The majority of patients with chronic kidney disease are diagnosed and monitored in primary care. Glomerular filtration rate (GFR) is a key marker of renal function, but direct measurement is invasive; in routine practice, equations are used for estimated GFR (eGFR) from serum creatinine. We systematically assessed bias and accuracy of commonly used eGFR equations in populations relevant to primary care.CONTENT: MEDLINE, EMBASE, and the Cochrane Library were searched for studies comparing measured GFR (mGFR) with eGFR in adult populations comparable to primary care and reporting both the Modification of Diet in Renal Disease (MDRD) and the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equations based on standardized creatinine measurements. We pooled data on mean bias (difference between eGFR and mGFR) and on mean accuracy (proportion of eGFR within 30% of mGFR) using a random-effects inverse-variance weighted metaanalysis. We included 48 studies of 26875 patients that reported data on bias and/or accuracy. Metaanalysis of within-study comparisons in which both formulae were tested on the same patient cohorts using isotope dilution-mass spectrometry- traceable creatinine showed a lower mean bias in eGFR using CKD-EPI of 2.2 mL/min/1.73 m2 (95% CI, 1.1-3.2; 30 studies; I2 = 74.4%) and a higher mean accuracy of CKD-EPI of 2.7% (1.6-3.8; 47 studies; I2 = 55.5%). Metaregression showed that in both equations bias and accuracy favored the CKD-EPI equation at higher mGFR values.SUMMARY: Both equations underestimated mGFR, but CKD-EPI gave more accurate estimates of GFR.</p

Statistical models for the deterioration of kidney function in a primary care population: a retrospective database analysis

Background: Evidence for kidney function monitoring intervals in primary care is weak, and based mainly on expert opinion. In the absence of trials of monitoring strategies, an approach combining a model for the natural history of kidney function over time combined with a cost-effectiveness analysis offers the most feasible approach for comparing the effects of monitoring under a variety of policies. This study aimed to create a model for kidney disease progression using routinely collected measures of kidney function. Methods: This is an open cohort study of patients aged ≥18 years, registered at 643 UK general practices contributing to the Clinical Practice Research Datalink between 1 April 2005 and 31 March 2014. At study entry, no patients were kidney transplant donors or recipients, pregnant or on dialysis. Hidden Markov models for estimated glomerular filtration rate (eGFR) stage progression were fitted to four patient cohorts defined by baseline albuminuria stage; adjusted for sex, history of heart failure, cancer, hypertension and diabetes, annually updated for age. Results: Of 1,973,068 patients, 1,921,949 had no recorded urine albumin at baseline, 37,947 had normoalbuminuria (30mg/mmol). Estimated annual transition probabilities were 0.75–1.3%, 1.5–2.5%, 3.4–5.4% and 3.1–11.9% for each cohort, respectively. Misclassification of eGFR stage was estimated to occur in 12.1% (95%CI: 11.9–12.2%) to 14.7% (95%CI: 14.1–15.3%) of tests. Male gender, cancer, heart failure and age were independently associated with declining renal function, whereas the impact of raised blood pressure and glucose on renal function was entirely predicted by albuminuria. Conclusions: True kidney function deteriorates slowly over time, declining more sharply with elevated urine albumin, increasing age, heart failure, cancer and male gender. Consecutive eGFR measurements should be interpreted with caution as observed improvement or deterioration may be due to misclassification

Recognition and blocking of innate immunity cells by Candida albicans chitin

Peer reviewe

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

Background: Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in &gt;50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lower airway disease, subfertility, and laterality defects. Given overlapping clinical features and genetic heterogeneity, diagnosis can be difficult and often occurs late. Of those tested an estimated 30% of genetically screened PCD patients still lack a molecular diagnosis. A molecular diagnosis allows for appropriate clinical management including prediction of phenotypic features correlated to genotype. Here, we aimed to identify how readily a genetic diagnosis could be made using whole genome sequencing (WGS) to facilitate identification of pathogenic variants in known genes as well as novel PCD candidate genes. Methods: WGS was used to screen for pathogenic variants in eight patients with PCD. Results: 7/8 cases had homozygous or biallelic variants in DNAH5, DNAAF4 or DNAH11 classified as pathogenic or likely pathogenic. Three identified variants were deletions, ranging from 3 to 13 kb, for which WGS identified precise breakpoints, permitting confirmation by Sanger sequencing. WGS yielded identification of a de novo variant in a novel PCD gene TUBB4B. Conclusion: Here, WGS uplifted genetic diagnosis of PCD by identifying structural variants and novel modes of inheritance in new candidate genes. WGS could be an important component of the PCD diagnostic toolkit, increasing molecular diagnostic yield from current (70%) levels, and enhancing our understanding of fundamental biology of motile cilia and variants in the noncoding genome.</p

Falkland Island peatland development processes and the pervasive presence of fire

Palaeoecological analyses of Falkland Island peat profiles have largely been confined to pollen analyses. In order to improve understanding of long-term Falkland Island peat development processes, the plant macrofossil and stable isotope stratigraphy of an 11,550 year Falkland Island Cortaderia pilosa (‘whitegrass’) peat profile was investigated. The peatland developed into an acid, whitegrass peatland via a poor fen stage. Macrofossil charcoal indicate that local fires have frequently occurred throughout the development of the peatland. Raman spectroscopy analyses indicate changes in the intensity of burning which are likely to be related to changes in fuel types, abundance of fine fuels due to reduced evapotranspiration/higher rainfall (under weaker Southern Westerly Winds), peat moisture and human disturbance. Stable isotope and thermogravimetric analyses were used to identify a period of enhanced decomposition of the peat matrices dating from ∼7020 cal yr BP, which possibly reflects increasing strength of the Southern Westerly winds. The application of Raman spectroscopy and thermogravimetric analyses to the Falkland Island peat profile identified changes in fire intensity and decomposition which were not detectable using the techniques of macrofossil charcoal and plant macrofossil analyses.</p

Falkland Island peatland development processes and the pervasive presence of fire

Palaeoecological analyses of Falkland Island peat profiles have largely been confined to pollen analyses. In order to improve understanding of long-term Falkland Island peat development processes, the plant macrofossil and stable isotope stratigraphy of an 11,550 year Falkland Island Cortaderia pilosa (‘whitegrass’) peat profile was investigated. The peatland developed into an acid, whitegrass peatland via a poor fen stage. Macrofossil charcoal indicate that local fires have frequently occurred throughout the development of the peatland. Raman spectroscopy analyses indicate changes in the intensity of burning which are likely to be related to changes in fuel types, abundance of fine fuels due to reduced evapotranspiration/higher rainfall (under weaker Southern Westerly Winds), peat moisture and human disturbance. Stable isotope and thermogravimetric analyses were used to identify a period of enhanced decomposition of the peat matrices dating from ∼7020 cal yr BP, which possibly reflects increasing strength of the Southern Westerly winds. The application of Raman spectroscopy and thermogravimetric analyses to the Falkland Island peat profile identified changes in fire intensity and decomposition which were not detectable using the techniques of macrofossil charcoal and plant macrofossil analyses.</p

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Background Primary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tests.Methods The diagnostic utility of multigene panel next-generation sequencing (NGS) was evaluated in 161 unrelated families from multiple population ancestries.Results Most (82%) families had affected individuals with biallelic or hemizygous (75%) or single (7%) pathogenic causal alleles in known PCD genes. Loss-of-function alleles dominate (73% frameshift, stop-gain, splice site), most (58%) being homozygous, even in non-consanguineous families. Although 57% (88) of the total 155 diagnostic disease variants were novel, recurrent mutations and mutated genes were detected. These differed markedly between white European (52% of families carry DNAH5 or DNAH11 mutations), Arab (42% of families carry CCDC39 or CCDC40 mutations) and South Asian (single LRRC6 or CCDC103 mutations carried in 36% of families) patients, revealing a striking genetic stratification according to population of origin in PCD. Genetics facilitated successful diagnosis of 81% of families with normal or inconclusive ultrastructure and 67% missing prior ultrastructure results.Conclusions This study shows the added value of high-throughput targeted NGS in expediting PCD diagnosis. Therefore, there is potential significant patient benefit in wider and/or earlier implementation of genetic screening

Author Correction: Age-specific nasal epithelial responses to SARS-CoV-2 infection

Correction to: Nature Microbiologyhttps://doi.org/10.1038/s41564-024-01658-1, published online 15 April 2024 In the version of the article initially published, Paolo De Coppi’s surname originally appeared as “DeCoppi”. In the third paragraph of the article, the callout to Extended Data Fig. 3i has been amended from Extended Data Fig. 4i. In the legend to Fig. 6, the description of panel m (“Summary figure highlighting the key findings from the study. Created with BioRender.com”) was missing and has now been added. In the “Statistical analysis” paragraph in the Methods, the text now reading “a Kruskal–Wallis test was used to test for homogeneity of locations using R” originally read “… normality using R”. These corrections have been made to the HTML and PDF versions of the article