scholarly journals Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0–25 with Bilateral Cataracts

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 131 ◽  
Author(s):  
Suzannah Bell ◽  
Samantha Malka ◽  
Ian Christopher Lloyd ◽  
Mariya Moosajee
Keyword(s):  
Early Adulthood ◽  
Genetic Diagnosis ◽  
Genetic Mutation ◽  
Molecular Diagnostic ◽  
Panel Testing ◽  
Retinal Dystrophies ◽  
Significant Difference ◽  
Clinical Diagnoses ◽  
The Uk ◽  
Cataract Patients

Childhood cataract affects 2.5–3.5 per 10,000 children in the UK, with a genetic mutation identified in 50–90% of bilateral cases. However, cataracts can also manifest in adolescence and early adulthood in isolation, as part of a complex ocular phenotype or with systemic features making accurate diagnosis more challenging. We investigate our real-world experience through a retrospective review of consecutive bilateral cataract patients (0–25 years) presenting to the ocular genetics service at Moorfields Eye Hospital between 2017 and 2020. Fifty-four patients from 44 unrelated families were identified, with a median age of 13.5 years (range 1 to 68 years) and a median age at diagnosis of 43.9 months IQR (1.7–140.3 months); 40.7% were female and 46.3% were Caucasian. Overall, 37 patients from 27 families (61.4%) were genetically solved (50%) or likely solved (additional 11.4%), with 26 disease-causing variants (8 were novel) in 21 genes; the most common were crystallin genes, in 8 (29.6%) families, with half occurring in the CRYBB2 gene. There was no significant difference in the molecular diagnostic rates between sporadic and familial inheritance (P = 0.287). Associated clinical diagnoses were retinal dystrophies in five (18.5%) and aniridia in three (11.1%) families. Bilateral cataracts were the presenting feature in 27.3% (6/22) of either complex or syndromic cases, and isolated cataract patients were 11.5 years younger (rank-sum Z = 3.668, P = 0.0002). Prompt genetic investigation with comprehensive panel testing can aid with diagnosis and optimise management of cataract patients.

scholarly journals Improved renal allograft survival for pre-emptive paediatric renal transplant recipients in the UK

2021 ◽  
pp. archdischild-2020-321277
Author(s):  
Matko Marlais ◽  
Kate Martin ◽  
Stephen D Marks
Keyword(s):  
Peritoneal Dialysis ◽  
Renal Transplant ◽  
Renal Allograft ◽  
Cox Regression ◽  
Renal Transplant Recipients ◽  
Transplant Recipients ◽  
Allograft Survival ◽  
Significant Difference ◽  
Donor Type ◽  
The Uk

BackgroundThe aim of this study was to investigate whether being on dialysis at the time of renal transplantation affected renal allograft survival in paediatric renal transplant recipients (pRTRs).MethodsRetrospective study of UK Transplant Registry (National Health Service Blood and Transplant) data on all children (aged <18 years) receiving a kidney-only transplant from 1 January 2000 to 31 December 2015. Kaplan-Meier estimates of patient and renal allograft survival calculated and Cox regression modelling accounting for donor type. The relationship between time on dialysis and renal allograft survival was examined.Results2038 pRTRs were analysed: 607 (30%) were pre-emptively transplanted, 789 (39%) and 642 (32%) on peritoneal dialysis and haemodialysis, respectively, at the time of transplantation. Five-year renal allograft survival was significantly better in the pre-emptively transplanted group (90.6%) compared with those on peritoneal dialysis and haemodialysis (86.4% and 85.7%, respectively; p=0.02). After accounting for donor type, there was a significantly lower hazard of 5-year renal allograft failure in pre-emptively transplanted children (HR 0.742, p=0.05). Time spent on dialysis pre-transplant negatively correlated with renal allograft survival (p=0.002). There was no significant difference in 5-year renal allograft survival between children who were on dialysis for less than 6 months and children transplanted pre-emptively (87.5% vs 90.5%, p=0.25).ConclusionsPre-emptively transplanted children have improved 5-year renal allograft survival, compared with children on dialysis at the time of transplantation. Although increased time spent on dialysis correlated with poorer renal allograft survival, there was no evidence that short periods of dialysis pre-transplant affected renal allograft survival.

scholarly journals Prostatic Artery Embolization (PAE) and Transurethral Resection of the Prostate (TURP) have a Differential Impact on Lower Urinary Tract Symptoms (LUTS): Retrospective Analysis of the Multicentre UK-ROPE (UK Register of Prostate Embolization) Study

2021 ◽  
Author(s):  
Ganesh Vigneswaran ◽  
Drew Maclean ◽  
Mohammed Hadi ◽  
Benjamin Maher ◽  
Sachin Modi ◽  
...  
Keyword(s):  
Retrospective Analysis ◽  
Transurethral Resection ◽  
Artery Embolization ◽  
Prostatic Artery Embolization ◽  
Voiding Symptoms ◽  
Significant Difference ◽  
Student’S T ◽  
The Uk ◽  
And Storage ◽  
Prostatic Artery

Abstract Purpose To compare the relative IPSS (International Prostate Symptom Score) improvement in storage and voiding symptoms between prostatic artery embolization (PAE) and transurethral resection of the prostate (TURP). Method Retrospective analysis of the UK-ROPE (UK Register of Prostate Embolization) multicentre database was conducted with inclusion of all patients with full IPSS questionnaire score data. The voiding and storage subscore improvement was compared between interventions. Student’s t-test (paired and unpaired) and ANOVA (Analysis of variance) were used to identify significant differences between the groups. Results 146 patients (121 PAE, 25 TURP) were included in the analysis. Storage symptoms were more frequently the most severe symptom (‘storage’ in 75 patients vs ‘voiding’ in 17 patients). Between groups, no significant difference was seen in raw storage subscore improvement (TURP 4.9 vs PAE 4.2; p = 0.34) or voiding subscore improvement (TURP 8.4 vs PAE 6.7; p = 0.1). ANOVA demonstrated a greater proportionate reduction (relative to total IPSS) towards voiding symptoms in the TURP group (27.3% TURP vs 9.9% PAE, p = 0.001). Conclusion Although both TURP and PAE improve voiding symptoms more than storage, a significantly larger proportion of total symptom reduction is due to voiding in the TURP cohort, with PAE providing a more balanced improvement between voiding and storage.

scholarly journals P7: ACUTE KIDNEY INJURY AFTER ELECTIVE COLORECTAL SURGERY: RESULTS OF A NATIONAL CLOSED-LOOP AUDIT

2021 ◽  
Vol 108 (Supplement_1) ◽  
Author(s):  
Keyword(s):  
Acute Kidney Injury ◽  
Quality Improvement ◽  
Colorectal Surgery ◽  
Prognostic Score ◽  
Univariate Analysis ◽  
Kidney Injury ◽  
Elective Colorectal Surgery ◽  
National Quality ◽  
Significant Difference ◽  
The Uk

Abstract Introduction The aim of this study was to re-audit the rates of acute kidney injury (AKI) after elective colorectal surgery, following local presentations of results. Method Outcomes After Kidney injury in Surgery (OAKS) and Ileus Management International (IMAGINE), were prospective multicentre audits on consecutive elective colorectal resections, in the UK and Ireland. These were performed over 3-month periods in 2015 and 2018 respectively. During the interim period, results were presented at participating centres to stimulate local quality improvement initiatives. Risk-adjusted 7-day postoperative AKI rates were calculated through multilevel logistic regression based on the OAKS prognostic score. Result Of the 4,917 patients included, 3,133 (63.7%) originated from OAKS and 1,784 (36.3%) from IMAGINE. On univariate analysis, there was no significant difference (p=0.737) in the 7-day AKI rate between OAKS (n=346, 11.8%) and IMAGINE (n=205, 11.5%). However, the risk-adjusted AKI rate in IMAGINE was significantly lower compared to OAKS (-1.8%, 95% CI: -2.3% to -1.3%, p&lt;0.001). Of 47 centres (40.1%) with a recorded local presentation, there was no significant difference in the subsequent AKI rate in IMAGINE (-0.7%, -2.0% to 0.6%, p=0.278). Conclusion Rates of AKI after elective colorectal surgery significantly reduced on re-audit. However, this may be related to increased awareness from participation or national quality improvement initiatives, rather than local presentation of results. Abbrev. AKI - Acute Kidney Injury, OAKS - Outcomes After Kidney injury in Surgery, IMAGINE - Ileus Management International Take-home message Risk-adjusted AKI rates significantly reduced on re-audit, however, this was most likely due to factors separate from the local presentation of initial results.

scholarly journals Lockdown, slow down: impact of the COVID-19 pandemic on physical activity—an observational study

Open Heart ◽  
2021 ◽  
Vol 8 (1) ◽  
pp. e001600
Author(s):  
Joanne Kathryn Taylor ◽  
Haarith Ndiaye ◽  
Matthew Daniels ◽  
Fozia Ahmed
Keyword(s):  
Physical Activity ◽  
New York ◽  
Heart Association ◽  
Evaluation Study ◽  
Activity Data ◽  
Cardiac Devices ◽  
Significant Difference ◽  
New York Heart Association ◽  
Using Data ◽  
The Uk

AimsIn response to the COVID-19 pandemic, the UK was placed under strict lockdown measures on 23 March 2020. The aim of this study was to quantify the effects on physical activity (PA) levels using data from the prospective Triage-HF Plus Evaluation study.MethodsThis study represents a cohort of adult patients with implanted cardiac devices capable of measuring activity by embedded accelerometery via a remote monitoring platform. Activity data were available for the 4 weeks pre-implementation and post implementation of ‘stay at home’ lockdown measures in the form of ‘minutes active per day’ (min/day).ResultsData were analysed for 311 patients (77.2% men, mean age 68.8, frailty 55.9%. 92.2% established heart failure (HF) diagnosis, of these 51.2% New York Heart Association II), with comorbidities representative of a real-world cohort.Post-lockdown, a significant reduction in median PA equating to 20.8 active min/day was seen. The reduction was uniform with a slightly more pronounced drop in PA for women, but no statistically significant difference with respect to age, body mass index, frailty or device type. Activity dropped in the immediate 2-week period post-lockdown, but steadily returned thereafter. Median activity week 4 weeks post-lockdown remained significantly lower than 4 weeks pre-lockdown (p≤0.001).ConclusionsIn a population of predominantly HF patients with cardiac devices, activity reduced by approximately 20 min active per day in the immediate aftermath of strict COVID-19 lockdown measures.Trial registration numberNCT04177199.

scholarly journals The ageing of parent carers: classed and gendered care-giving patterns at higher ages

2021 ◽  
pp. 1-24
Author(s):  
Ursula Henz
Keyword(s):  
Adult Children ◽  
Social Classes ◽  
Retirement Age ◽  
Parent Care ◽  
Multivariate Models ◽  
Middle Aged ◽  
Care Giving ◽  
Significant Difference ◽  
The Uk ◽  
Marital Union

Abstract Increasing longevity has led to a rising number of adult children who are at higher ages when they provide care for their parents. Drawing on the lifecourse approach and exchange theory, the paper addresses similarities and differences in parent care between late middle-aged and older adult children. The study uses the UK Household Longitudinal Study, restricting the analysis sample to individuals aged 50 and older with a living parent or parent-in-law. It presents multivariate models to examine differences between late middle-aged (aged 50–64) and older (aged 65+) children in being a parent carer, providing intensive care, the duration of parent care and providing selected types of help to parents. The involvement in parent care increases among women up to the end of their seventh decade of life and for men up to their eighth decade of life. At higher ages, the proportion of parent carers decreases more strongly for women than men. Older carers have shorter care-giving episodes than younger carers, but there is no significant difference in the type of care provided. Even past retirement age, parent care remains classed and gendered, with women from lower social classes having the highest likelihood of providing intensive parent care in old age. Having dependent children or living in a non-marital union depress the likelihood of caring for a parent even past retirement age.

scholarly journals Breast Cancer, Alzheimer’s Disease, and APOE4 Allele in the UK Biobank Cohort

2021 ◽  
Vol 5 (1) ◽  
pp. 49-53
Author(s):  
Steven Lehrer ◽  
Peter H. Rheinstein
Keyword(s):  
Breast Cancer ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Apoe Genotype ◽  
Uk Biobank ◽  
Breast Cancer Patients ◽  
Apoe4 Allele ◽  
Significant Difference ◽  
The Uk ◽  
Cognitive Problems

Background: Cognitive problems are common in breast cancer patients. The apolipoprotein E4 (APOE4) gene, a risk factor for Alzheimer’s disease (AD), may be associated with cancer-related cognitive decline. Objective: To further evaluate the effects of the APOE4 allele, we studied a cohort of patients from the UK Biobank (UKB) who had breast cancer; some also had AD. Methods: Our analysis included all subjects with invasive breast cancer. Single nucleotide polymorphism (SNP) data for rs 429358 and rs 7412 was used to determine APOE genotypes. Cognitive function as numeric memory was assessed with an online test (UKB data field 20240). Results: We analyzed data from 2,876 women with breast cancer. Of the breast cancer subjects, 585 (20%) carried the APOE4 allele. Numeric memory scores were significantly lower in APOE4 carriers and APOE4 homozygotes than non-carriers (p = 0.046). 34 breast cancer subjects (1.1%) had AD. There was no significant difference in survival among genotypes ɛ3/ɛ3, ɛ3/ɛ4, and ɛ4/ɛ4. Conclusion: UKB data suggest that cognitive problems in women with breast cancer are, for the most part, mild, compared with other sequelae of the disease. AD, the worst cognitive problem, is relatively rare (1.1%) and, when it occurs, APOE genotype has little impact on survival.

scholarly journals Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1421
Author(s):  
Yu-Chi Sung ◽  
Chang-Hao Yang ◽  
Chung-May Yang ◽  
Chao-Wen Lin ◽  
Ding-Siang Huang ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinal Degeneration ◽  
Medical Center ◽  
Fundus Autofluorescence ◽  
Genetic Diagnosis ◽  
Common Disease ◽  
Genetic Characteristics ◽  
Retinal Dystrophies ◽  
High Prevalence ◽  
Abca4 Gene

The ABCA4 gene is one of the most common disease-causing genes of inherited retinal degeneration. In this study, we report different phenotypes of ABCA4-associated retinal dystrophies in the Taiwanese population, its clinical progression, and its relationship with genetic characteristics. Thirty-seven subjects were recruited and all patients underwent serial ophthalmic examinations at a single medical center. Fundus autofluorescence (FAF) images were quantified for clinical evaluation, and panel-based next-generation sequencing testing was performed for genetic diagnosis. Visual preservation, disease progression, and genotype–phenotype correlation were analyzed. In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa (32.43%), and cone-rod dystrophy (5.41%). STGD1 could be further divided into central and dispersed types. In each phenotype, the lesion areas quantified by FAF increased with age (p < 0.01) and correlated with poorer visual acuity. However, three patients had the foveal sparing phenotype and had relatively preserved visual acuity. Forty-two ABCA4 variants were identified as disease-causing, with c.1804C>T (p.Arg602Trp) the most frequent (37.84%). Patients with a combination of severe/null variants could have more extensive phenotypes, such as arRP and dispersed STGD1. This is the first cohort study of ABCA4-associated retinal degeneration in Taiwan with wide spectrums of both genotypic and phenotypic characteristics. An extremely high prevalence of c.1804C>T, which has not been reported in East Asia before, was noted. The extensiveness of retinal involvement might be regarded as a spectrum of ABCA4-associated retinal dystrophies. Different types of genetic variations could lead to distinctive phenotypes, according to the coding impact of variants.

scholarly journals Aspheric Intraocular Lenses Implantation for Cataract Patients with Extreme Myopia

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Yanwen Fang ◽  
Yi Lu ◽  
Aizhu Miao ◽  
Yi Luo
Keyword(s):  
Contrast Sensitivity ◽  
Visual Quality ◽  
Intraocular Lenses ◽  
Wavefront Aberrations ◽  
Spatial Frequencies ◽  
Aspheric Iol ◽  
Significant Difference ◽  
Composite Scores ◽  
Cataract Patients

Objective. To evaluate the postoperative visual quality of cataract patients with extreme myopia after implantation of aspheric intraocular lenses (IOLs). Methods. Thirty-three eyes were enrolled in this prospectivestudy. Eighteen eyes with an axial length longer than 28 mm were included in the extreme myopia group, and the other 15 eyes were included in the nonextreme myopia group. Phacoemulsification and aspheric IOL implantation were performed. Six months after cataract surgery, best-corrected visual acuity (BCVA), contrast sensitivity, and wavefront aberrations were measured, and subjective visual quality was assessed. Results. The BCVA improved significantly after surgery for both groups, and patients in the nonextreme myopia group achieved better postoperative BCVA due to better retinal status of the eyes. The evaluation of contrast sensitivity without glare was the same in both groups, whereas patients in the nonextreme myopia group performed better at intermediate spatial frequencies under glare conditions. The two groups did not show a significant difference in high-order aberrations. With regard to subjective visual quality, the composite scores of both groups did not differ significantly. Conclusions. Aspheric IOLs provided good visual outcomes in cataract patients with extreme myopia. These patients should undergo careful evaluation to determine the maculopathy severity level before surgery.

scholarly journals Fruit and vegetable intake: change with age across childhood and adolescence

2017 ◽  
Vol 117 (5) ◽  
pp. 759-765 ◽  
Author(s):  
Viviana Albani ◽  
Laurie T. Butler ◽  
W. Bruce Traill ◽  
Orla B. Kennedy
Keyword(s):  
Vegetable Intake ◽  
Early Adulthood ◽  
Childhood And Adolescence ◽  
Nutrition Survey ◽  
Average Intake ◽  
Eating Fruit ◽  
Important Health ◽  
Food Diaries ◽  
The Uk

AbstractEating fruit and vegetables (FV) offers important health benefits for children and adolescents, but their average intake is low. To explore if negative trends with age exist as children grow, this study modelled differences in FV consumption from childhood to young adulthood. A pseudo-panel was constructed using years 1–4 (combined) of the Rolling Programme of the UK National Diet and Nutrition Survey (NDNS) (2008/2009–2011/2012). Intake of FV in the NDNS was recorded using 4-d unweighted food diaries. The data consisted of 2131 observations of individuals aged 2–23 years. Age-year-cohort decomposition regression analyses were used to separate age effects from year and cohort effects in the data. Total energy intake was included to account for age differences in overall energy consumption. Fruit intake started to decrease from the age of 7 years for boys and girls, and reached its lowest level during adolescence. By 17 years, boys were consuming 0·93 (P=0·037) less fruit portions compared with the age of 2 years. By 15 years, girls were consuming 0·8 fruit portions less (P=0·053). Vegetable intake changed little during childhood and adolescence (P=0·0834 andP=0·843 for change between 7 and 12 years, boys and girls, respectively). There was unclear evidence of recovery of FV intakes in early adulthood. Efforts to improve FV intake should consider these trends, and focus attention on the factors influencing intake across childhood and adolescence in order to improve the nutritional quality of diets during these periods.

Validation of a locally derived serum calcium adjustment equation: relationship with total 25(OH) vitamin D and PTH levels

2016 ◽  
Vol 70 (1) ◽  
pp. 69-74 ◽  
Author(s):  
Jonathan Joseph Scargill ◽  
John Mark Guy
Keyword(s):  
Vitamin D ◽  
Fold Increase ◽  
Reference Interval ◽  
Albumin Concentration ◽  
Vitamin D Levels ◽  
Significant Difference ◽  
25 Oh Vitamin D ◽  
New Equation ◽  
The Uk ◽  
Adjustment Equation

AimsMany clinical laboratories in the UK use a standard equation to adjust total calcium for albumin concentration. To assess the validity of this practice, we assessed the effect of the use of a traditional and locally derived calcium adjustment equation on parathyroid hormone (PTH) and 25(OH, hydroxy) vitamin D levels.MethodsSamples requested for calcium and albumin measurement over a 6 month period that met inclusion criteria were used to derive a calcium adjustment equation (n=60 941). The traditional and locally derived calcium adjustment equations were then applied to a second cohort of adult patients that underwent calcium measurement over a 1 year period (n=275 456). Patients were classified as hypocalcaemic, normocalcaemic or hypercalcaemic using a UK Pathology Harmony adjusted calcium reference interval (2.2–2.6 mmol/L).ResultsThe local calcium adjustment equation provided a 7.1-fold reduction in the prevalence of hypocalcaemia. Patients classified as hypocalcaemic using the locally derived equation had statistically significantly lower 25(OH) vitamin D and higher PTH levels. A 2.4-fold increase in the prevalence of hypercalcaemia was also observed using the new equation, but with no significant difference in 25(OH) vitamin D or PTH levels.ConclusionsA locally derived calcium adjustment equation reclassified the calcium status of 61 278 (22%) patients. Patients classified as hypocalcaemic by the locally derived equation had significantly lower 25(OH) vitamin D and significantly higher PTH values, providing evidence that use of this adjustment equation generates adjusted calcium results of greater clinical relevance. This study provides further and novel evidence that individual laboratories should determine local equations for adjusted calcium where possible.

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