Clinical Chemistry
Programme sponsor
Biomarkers of neurodegenerative disease
Biomarkers of neurodegenerative disease
Clinical Chemistry
Abstract
During the last 10 years advances in technology have enabled us to measure proteins related to brain pathology and neurodegeneration in blood. This had led to massive growth of research in this area and the first approvals of assays to measure biomarkers indicative of amyloid pathology in clinical settings. This has been accelerated by the need to facilitate accurate and timely diagnosis of Alzheimer’s disease given the arrival of the first disease modifying treatments.
This presentation will focus on where we are now with blood biomarkers for AD and the latest innovations which will bring even wider access, but also on those biomarkers for other brain pathologies, such as alpha synuclein inclusions and TDP-43 aggregates which are in development, to ensure we are able to accurately diagnose non-AD neurodegenerative conditions also.
Learning outcomes
This presentation will cover
- The emergence of biomarkers of neurodegenerative disease
- Biomarkers of neurological damage
- Biomarkers in Multiple Sclerosis & Motor Neuron Disease
- Biomarkers in Alzheimer’s, Dementia and Parkinson's Disease
- Current & future relevance in diagnosis and prognosis of neurological disease
Speakers
Dr Amanda Heslegrave
The curious case of microplastics and their journey to the centre of the gut
The curious case of microplastics and their journey to the centre of the gut
Clinical Chemistry
Abstract
Microplastic (MP) exposure to humans is estimated at <168,000 environmental MP per day. Oral exposure risk is not well understood, specifically within the gastrointestinal tract (GIT) environment. Observations of inflammation, down regulation of cell growth, metabolic disruption and reactive oxygen species post MP exposure to GIT models. But studies have used limited primary polymer MP. These MP types are not wholly representative of human MP exposure. Limited studies have incorporated digestive fluid and the release components within MP and associated toxicity. This study aims to address some of these knowledge gaps. MP test material was created using a cryogenic abrasion method from polymer and plastic mix polyethylene terephthalate (PET) plastics.
MP produced had a mean diameter between 22-55 µm being fragmented in shape; similar to environmental MP. Aluminium (Al) contaminated and non-contaminated type was created. Caco-2 and HT29-MTX cells were exposed to MP test materials for growth curves and transcriptomic analysis to determine toxicity. MP test material was exposed to digestive fluid model to determine metal leachates. Growth curves observed significant reduction at the highest concentration; 0.5-1 mg/mL, with a dose dependent reduction, even at lower concentrations while not significant.
Transcriptomic analysis confirmed there was a down regulation of proliferation genes but also transcription related, cell function, signalling, transport membrane proteins, mucus production and the up regulation of some cytokine and oxidative stress genes. GSEA pathway highlighted cell junction, adhesion and function pathways were affected; mostly in caco-2 cells. Metal leachates in digestive fluid was analysed using ICP-MS. The stomach showed significant release of metals.
Al contaminated MP released the largest amount of associated metal. Exposure from PET MPs within in vitro monoculture caco-2 and HT29-MTX cells suggests reducing cell growth. Metals were leached from PET MPs and PET pre-loaded Al MPs are capable of leaching, suggesting that particle can be a vector for contaminants posing PET MPs could be a multi-level risk factor.
Speakers
Dr Lorna Jones
The influence of folate supplementation during pregnancy on gestational diabetes and fetal outcomes
The influence of folate supplementation during pregnancy on gestational diabetes and fetal outcomes
Clinical Chemistry
Learning outcomes
Folate and vitamin B12 work in synergy to provide components for DNA synthesis and methylation reactions, all of which are essential for growth and development, including the prevention of neural tube defects. Therefore, supplementation with folic acid is widely recommended for women during preconception and pregnancy, and the mandatory folic acid fortification of flour, rice, or maize is practiced in many countries around the world. Importantly, folic acid is a synthetic form of folate and is not naturally present in food. Its excessive intake above the upper tolerable limit is becoming more common and has been associated with various adverse health issues for the expectant mother and child. The most common disorder of pregnancy, namely gestational diabetes mellitus (GDM) (glucose intolerance in pregnancy), has been most strongly associated with excessive folic acid intake, especially in the presence of low vitamin B12 status, creating a so-called folate and vitamin B12 imbalance. Autism, large for gestational age babies, increased risk of obesity, and insulin resistance have also been reported in children of mothers who have potentially exceeded folic acid intake during preconception/pregnancy.
Folic acid fortification of flour will become mandatory in the UK in 2026. This initiative will reduce the occurrence of neural tube defects, but it may also increase the risk of adverse effects to the mother, child, and wider population.
This session will explore the current understanding of folates, folic acid, the effects of deficiency and excess, and the risks and benefits of folic acid fortification. It will discuss the mechanisms leading to adverse effects of excessive folic acid intake and will propose alternative and potentially safer options which would improve folate status of pregnant women, without exposing the whole population to excessive folic acid intake.
Abstract
This presentation will discuss:
- Folate - a brief overview
- Folate status in pregnancy
- Adverse effects in pregnancy including links to diabetes mellitus.
Speakers
Dr Agata Sobczyńska- Malefora
Investigating infertility and supporting assisted conception services
Investigating infertility and supporting assisted conception services
Clinical Chemistry
Abstract
Infertility is a complex, multifactorial condition affecting a significant portion of the global population, with many factors contributing to its prevalence. Clinical chemistry plays a crucial role in the diagnostic evaluation and management of infertility, providing essential biochemical insights that guide safe, personalised treatment protocols that optimise each couples chance of success.
Ahead of any IVF cycle, a series of tests are performed to assess general health, fertility potential, and any underlying medical conditions that could affect treatment outcomes. For women, key tests include hormonal profiling to evaluate ovarian reserve, such as Follicle-Stimulating Hormone (FSH), Luteinizing Hormone (LH), estradiol (E2), and anti-Müllerian hormone (AMH). Thyroid function (TSH, free T4), blood glucose and insulin resistance tests may also be conducted to identify conditions which may affect fertility and ovarian stimulation response.
For men, semen analysis is performed to assess sperm quality, including sperm count, motility, and morphology. Hormonal evaluations, such as testosterone and prolactin, may also be carried out if male infertility is suspected. Pre-IVF infectious disease screening is mandatory for both partners and includes tests for HIV, hepatitis B, hepatitis C for both the health of the patients, ongoing pregnancies and adherence to regulatory compliance for gamete/embryo storage. IVF cycles with donor gametes require an additional level of screening.
Throughout the IVF cycle, hormone levels are continually assessed to monitor ovarian response to stimulation alongside ultrasound tracking to measure follicular development and timing for the egg collection procedure. Human chorionic gonadotropin (hCG) is measured to confirm pregnancy after embryo transfer, and progesterone levels are monitored to ensure proper luteal phase support for the developing pregnancy. For recurrent pregnancy loss, immune tests and Thrombophilia screens may be employed.
Accurate interpretation of clinical chemistry tests is therefore essential for optimising IVF success rates and managing any potential complications during a treatment cycle.
Learning outcomes
Delegates will:
- Understand the interpretation and use of laboratory tests in the investigation of infertility and for assisted conception/IVF
- Gain knowledge on the patient perspective of assisted conception and IVF
- Understand how laboratory medicine supports embryology
Speakers
Dr Charlotte Hall PhD FRCPath
Placental-like growth factor (PlGF) and soluble fmslike tyrosine kinase 1 (sFlt) testing for pre-eclampsia
Placental-like growth factor (PlGF) and soluble fmslike tyrosine kinase 1 (sFlt) testing for pre-eclampsia
Clinical Chemistry
Abstract
Identification of patients with suspected PE requiring admission is challenging as the clinical presentation is non-specific and historically used investigations were non-predictive of outcomes. Over the last 5 years the angiogenic markers sFlt-1 (soluble fms-like tyrosine kinase 1) and PlGF (placental growth factor) have been implemented into clinical practice as a diagnosis-aiding tool. Uptake across the UK was supported by both recommendations from the National Institute for Health and Care Excellence (NICE) and from funding for accelerated adoption from NHS England.
In this presentation a review of the development of these biomarkers will be covered together with key studies that paved the way for their implementation in practice. Current developments include a widening of method options, the use of PlGF specifically in the first trimester as part of screening for preeclampsia to allow early interventions such as aspirin in those at higher risk, and use of the markers to allow newer treatments to be evaluated.
Learning outcomes
Delegates will learn:
- What PlGF and sFlt are
- How they were identified
- How they can be used in relation to diagnosing pre-eclampsia
- Why it is important to identify pre-eclampsia
- How using PlGF and sFlt to diagnose pre-eclampsia compares to other current methods, and what this means for the patients
Speakers
Professor Tim James
Faecal Immunochemistry Testing (FIT)
Faecal Immunochemistry Testing (FIT)
Clinical Chemistry
Abstract
This presentation will cover
- FIT testing in the context of Colorectal Cancer
- National screening pathway
- GP symptomatic referral pathway
- Methodology and equipment
- Standardisation and quality assurance
- Impact on colorectal cancer services
Speakers
Professor Sally Benton FRCPath
Home sampling: Applications and challenges for the laboratory
Pregnancy in bariatric surgery patients and unique clinical Biochemistry considerations
Changing diagnostic pathways in ovarian cancer - learning from the SONATA study
Changing diagnostic pathways in ovarian cancer - learning from the SONATA study
Clinical Chemistry
Abstract
My talk will discuss innovative ways of evaluating diagnostic tests using routine NHS laboratory samples and data, the challenges of implementing diagnostic tests in practice and our insights from evaluating a threshold dependent integrated pathway change from primary care through to tertiary care.
Learning outcomes
Delegates will:
- Understand current use of CA125 as recommended by NICE for the detection of Ovarian cancer.
- Understand the unmet needs the detection of Ovarian Cancer.
- Understand the findings of the SONATA study (NHS England funded) into the utility of ROMA (CA125 +HE4) as a potential new tool to detect ovarian cancer early.
Speakers
Professor Sudha Sundar MPhil, MRCOG
Meet the Specialist Advisory Panel: Clinical Chemistry
Higher Specialist Diploma case study: BRILS reagent shortage for free thyroxine
Higher Specialist Diploma case study: BRILS reagent shortage for free thyroxine
Clinical Chemistry
Learning outcomes
Through the discussion of a case study delegates will learn how a laboratory created a contingency plan for a unexpected reagent shortage and assessed the logistical and clinical impact of the shortage.
Speakers
Jessica Merrils
Diabetic Ketoacidosis in type 2 diabetes – a consequence of treatment
Diabetic Ketoacidosis in type 2 diabetes – a consequence of treatment
Clinical Chemistry
Abstract
This talk will provide a brief overview of type 2 diabetes and current treatment strategies.
It will discuss the acute complication of Diabetic Ketoacidosis and how this can develop as a result of Sodium-Glucose Cotransporter 2 Inhibitors.
Speakers
Sheri Scott CSci FIBMS SFHEA
Nitrous Oxide: No laughing matter
Nitrous Oxide: No laughing matter
Clinical Chemistry
Abstract
Nitrous oxide or 'laughing gas' has become a popular recreational drug of abuse amongst the young in recent years. The debilitating effects of abuse are often not known by recreational users and may be under-recognised by health care professionals.
We report on the clinical presentation of a young woman who suffered severe neurological sequelae after long term nitrous oxide use. We address some of the common pitfalls in diagnosing nitrous-oxide induced B12-deficiency and consider recent NICE guideline recommendations.
Learning outcomes
Delegates will:
- Learn basic biochemistry of how recreational Nitrous Oxide effects B12 and the consequent pathology that manifests as potentially irreversible nerve damage and muscle weakness.
- Learn how MMA and HCY are useful addition tests and how Total b12 and Active B12 are not helpful in these patients.
- Learn how patients present and can be treated.
Speakers
