Results 51 to 60 of about 1,216,010 (297)

Outcomes of Genetic Testing in a Genitourinary Genetics Clinic [PDF]

, 2018
Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited ...
Pace, Annelise
core   +1 more source

The medium-term sustainability of organisational innovations in the national health service [PDF]

, 2011
Background: There is a growing recognition of the importance of introducing new ways of working into the UK's National Health Service (NHS) and other health systems, in order to ensure that patient care is provided as effectively and efficiently as ...
A Neath, A Pettigrew, BM Sibthorpe, C May, C Pollitt, D Buchanan, DA Buchanan, E Ferlie, E Rogers, G Currie, G Martin, GP Martin, GP Martin, GP Martin, GP Martin, Graeme Currie, Graham P Martin, J Jones, J Ritchie, JL Denis, KM Eisenhardt, L Fitzgerald, L Fitzgerald, NHS Institute, P Bate, Rachael Finn, RK Yin, Ruth McDonald, S Dopson, T Greenhalgh, T Reay, TB Lawrence   +31 more
core   +3 more sources

IL6/IL6R genetic diversity and plasma IL6 levels in bipolar disorder: An Indo-French study

Heliyon, 2019
Reports of association of genetic variants of IL6 and its receptor (IL6R) with psychiatric disorders are inconsistent, and there are few population-based studies thus far in bipolar disorder (BD).
Aparna Sundaresh, José Oliveira, Raj Kumar Chinnadurai, Ravi Philip Rajkumar, Lylia Hani, Rajagopal Krishnamoorthy, Marion Leboyer, Vir Singh Negi, Ryad Tamouza   +8 more
doaj   +1 more source

Adherence to Protocol Recommendations for Children With Wilms Tumour in Two Consecutive Studies in the United Kingdom and Ireland—Does Variation Matter?

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Wilms tumour (WT) has excellent event‐free and overall survival (OS). However, small differences exist between countries participating in the same international study. This led us to examine variation in adherence to protocol recommendations as a potential contributing factor.
Suzanne Tugnait, R. Al‐Saadi, A. Lopez‐Cortes, K. Dzhuma, M. Oostveen, J. Brok, S. Irtan, M. Weeks, J. Bate, S. Baker, R. Williams, M. Powis, D. Saunders, O. Olsen, T. Watson, S. Shelmerdine, S. Vaidya, L. Howell, C. Duncan, G. M. Vujanic, C. Stiller, G. P. Balchin, T. Chowdhury, K. Pritchard‐Jones   +23 more
wiley   +1 more source

The Clinical Genetics of Prostate Cancer

Hereditary Cancer in Clinical Practice, 2004
Prostate cancer is the most common cancer in men and the second highest cause of cancer-related mortality in the U.K. A genetic component in predisposition to prostate cancer has been recognized for decades.
Kommu Sashi, Edwards Stephen, Eeles Rosalind   +2 more
doaj   +1 more source

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
core   +2 more sources

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Myotonic dystrophy: genetics and clinical polymorphism

Анналы клинической и экспериментальной неврологии, 2019
Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova, Anna N. Moskalenko, Ekaterina Yu. Fedotova, Sergey A. Kurbatov, Sergey N. Illarioshkin   +4 more
doaj   +1 more source

Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare

iScience, 2022
Summary: At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an ...
C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey   +2 more
doaj   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source