Long-term mental and physical quality of life outcomes following ileal pouch anal anastomosis surgery.

INTRODUCTION: This study presents the authors' experience over 14 years of performing restorative procto-colectomy with ileal pouch anal anastomosis (IPAA). The aim was to study the long-term quality of life outcomes and analyse the predictors of pouch function as well as physical and mental wellbeing. METHODS: This is a single-centre retrospective study conducted in a specialised colorectal surgery unit in the UK. The study included patients who underwent two- or three-staged panproctocolectomy with defunctioning ileostomy for ulcerative colitis (UC) or familial adenomatous polyposis between 2004 and 2018. Data were collected from a prospectively, surgeon-maintained database. Pouch function and quality of life scores were obtained via validated questionnaires. A multivariate analysis was utilised to explore predictors of quality of life and pouch function. RESULTS: The study reports 105 patients who underwent IPAA with a covering ileostomy. The majority of operations were performed for UC (97, 92.4%). The median age of patients was 36 years and the male to female ratio was 1:1. Thirty patients (28.5%) suffered early post-IPAA complications, while pouch failure rate was 11.4% (12/105). Late complications were reported at a rate of 45%. On long-term follow-up, the median Pouch Function Score was 7 (IQR 3-14). Both the physical and mental sections of the quality of life score were at a median indistinguishable from the normal population but had different predictors associated with them. CONCLUSION: Our findings recognise the complex interplay between physical and psychological wellbeing after pouch surgery and advise psychological counselling where appropriate.

Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.

Thyroid hormones play a critical role in regulation of multiple physiological functions and thyroid dysfunction is associated with substantial morbidity. Here, we use electronic health records to undertake a genome-wide association study of thyroid-stimulating hormone (TSH) levels, with a total sample size of 247,107. We identify 158 novel genetic associations, more than doubling the number of known associations with TSH, and implicate 112 putative causal genes, of which 76 are not previously implicated. A polygenic score for TSH is associated with TSH levels in African, South Asian, East Asian, Middle Eastern and admixed American ancestries, and associated with hypothyroidism and other thyroid disease in South Asians. In Europeans, the TSH polygenic score is associated with thyroid disease, including thyroid cancer and age-of-onset of hypothyroidism and hyperthyroidism. We develop pathway-specific genetic risk scores for TSH levels and use these in phenome-wide association studies to identify potential consequences of pathway perturbation. Together, these findings demonstrate the potential utility of genetic associations to inform future therapeutics and risk prediction for thyroid diseases.

DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies.

SUMMARY: DeepPheWAS is an R package for phenome-wide association studies that creates clinically curated composite phenotypes and integrates quantitative phenotypes from primary care data, longitudinal trajectories of quantitative measures, disease progression and drug response phenotypes. Tools are provided for efficient analysis of association with any genetic input, under any genetic model, with optional sex-stratified analysis, and for developing novel phenotypes. AVAILABILITY AND IMPLEMENTATION: The DeepPheWAS R package is freely available under GNU general public licence v3.0 from at https://github.com/Richard-Packer/DeepPheWAS. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Ocular Manifestations in Patients with HIV Infection/AIDS who were Referred from the ART Centre, Hassan, Karnataka, India.

BACKGROUND: Ocular involvement in HIV infection/AIDS is very common and it includes various clinical presentations which may be asymptomatic or atypical or they may be the initial manifestations of the underlying disease. The severity of these lesions increases as the immune competency decreases, leading to visual impairment or blindness. OBJECTIVE: The purpose of this study was to determine the prevalence and the types of HIV associated ocular conditions and their effect on the vision in patients with HIV/AIDS. METHODS: This cross sectional study was based on the patients with HIV infection/AIDS, who were referred to the Ophthalmic OPD, District hospital, Hassan. These patients were referred from the District ART Centre for a complete ophthalmic evaluation, irrespective of their immune status and the presence or absence of symptoms. All the patients underwent a complete ophthalmic examination, which included both anterior and posterior segment evaluation and colour vision assessment. RESULTS: Out of the 553 patients, 66% belonged to the age group of 21-40 years. 87% of the patients had a BCVA of >6/18, whereas 4.7% had very poor vision. 37.6% of the patients had ocular manifestations. Anterior segment, posterior segment and neuro-ophthalmic manifestations were seen in 7%, 9.94% and 5.79% of the patients respectively. The most common anterior segment manifestation was recurrent lid infections, while HIV microangiopathy was the most common posterior segment manifestation. The other unusual findings included an abnormal colour vision in 6.3% of the patients and bilateral lid retraction in 8.5% of the patients. CONCLUSION: Since ocular manifestations are very common and as they can occur at any time during the course of HIV infection, an awareness on various patterns of the ocular disease and the screening of all the patients with HIV infection/AIDS is a must.