- Mehmet, B., McDonald, I.R., Saldarriaga, S., Pineros-Leano, M. and Dwyer, A.A. (2022). What's missing in sex chromosome aneuploidies? Representation and inclusion. Journal of Pediatric Nursing, 62, pp. 202–204. doi:10.1016/j.pedn.2021.11.030.
- Mehmet, B. and Llahana, S. (2021). Low intelligent quotient (IQ) in patients with Klinefelter Syndrome are associated with impaired quality of life: A systematic review with meta-analysis. Endocrine Abstracts. doi:10.1530/endoabs.73.aep583.
- Mehmet, B. and Llahana, S.V. (2021). Factors Impacting Quality of Life in Patients With Klinefelter Syndrome: A Systematic Review with Narrative Synthesis and Meta-Analysis. Journal of the Endocrine Society, 5(Supplement_1). doi:10.1210/jendso/bvab048.1542.
London EC1V 0HB
Brien is a PhD student in the School of Health Sciences and Endocrine Nurse. Having previously completed a postgraduate diploma and masters of Nursing at City, University of London and a Bachelor of Science (Hons) from Brunel University London. Brien now focuses his efforts on endocrine related Research and clinical practice. Research and clinical interests include; patients with Klinefelter syndrome, chromosome aneuploidies and reproductive endocrinology.
Klinefelter Syndrome (KS) first described by Harry Klinefelter in 1942 is the most common chromosome aneuploidy in men. Clinically characterised by small testes, gonadal, infertility, gynaecomastia and eunuchoid proportions (arm span exceeds height by ≥7 cm) as well as a variety of psychosocial symptoms and comorbidities, including, autism symptoms, depression and anxiety. It affects 1 in 600 men, but 50-75% of men with KS go undiagnosed in their lifetime. The overall impact of a diagnosis of KS is multifaceted, with a high disease burden for both patients and NHS services due to uncontrolled symptoms, lack of timely diagnosis and current management guidelines. The impact of living with KS is profound, resulting in an increased risk of mortality and a significantly impaired QoL
Titled, Quality of life in Adult males with Klinefelter syndrome, Brien's research is looking to understand the lived experiences of patients with Klinefelter syndrome, developing new understanding to how Klinefelter syndrome impacts quality of life. The information gained from upcoming studies, will help guide the development and validation of a new health scale. The novel health scale will be used to accurately measure Health related quality of life in adult males with Klinefelter syndrome. Future research will be conducted to implement this research into clinical practice.
Prof Steve Gillard
Dr Sofia Llahana
Dr Channa N Jayasena
- MSc Nursing, City, University London, United Kingdom, Sep 2019 – Oct 2020
- PgDip Nursing (Adult), City, University London, United Kingdom, Sep 2016 – Dec 2018
- BSc (Hons) Sport Science, Brunel University London, United Kingdom, Sep 2012 – Jun 2015
- Registered Nurse, Nursing and Midwifery Council, United Kingdom
- Honorary Clinical Nurse Specialist in Reproductive Endocrinology & Andrology, Imperial College Healthcare NHS Trust, Nov 2021 – present
- Staff Nurse, Royal Free Hospital, Feb 2021 – present
- Staff Nurse, University College London Hospital, Feb 2019 – Sep 2021
English (can read, write, speak, understand spoken and peer review).
Title of thesis: Quality Of Life In Adult Patients With Klinefelter Syndrome
Summary of research
Klinefelter syndrome is a rare genetic syndrome, affecting around 1 in 400 males, many of which will be diagnosed later in life. There are many symptoms associated with Klinefelter syndrome which can affect psychological health , physical health and social outcomes, this includes a broad spectrum of problems that may be present in the lives of patients with Klinefelter syndrome.
The aims of the research project are to understand how Klinefelter syndrome has an impact on the patients quality of life. The project will follow a mixed methods approach using pre-existing quality of life measures and phenomenological research to answer the initial research questions which will guide the later stages of the project.
From the findings of the initial research, the first condition specific Klinefelter syndrome patient recorded outcome measure (PROM) will be developed with the aim of accurately measuring quality of life in adult patients with Klinefelter syndrome.
- Steve Gillard, Professor of Mental Health
- Dr Sofia Llahana, Senior Lecturer in Advanced Nursing Practice