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Placement presentation 20.09.2017 (1)
- 1. ACADEMIC UNIT OF BONE METABOLISM UOS & NGH Amy Lawson Biomedical Science
- 2. ORGANISATION Metabolic Bone Centre, Northern General Hospital Dual-energy X-ray Absorptiometry (DXA) Consultations Treatment – day case unit The Medical School, University of Sheffield Clinical Research Facility (CRF) – 2x Academic Unit of Bone Metabolism (AUBM) The Mellanby Centre Professor Richard Eastell
- 3. AUBM TEAM AUBM team at the unit Christmas party
- 4. SHU PLACEMENT STUDENTS AT AUBM Picture of the three of us from christmas SHU placement students at the AUBM Christmas party.
- 5. BONE Function of bones Strong – light; adaptive; resilient 10% bone turnover each year. Bone Mass peak – late 20s Bone Diseases: Osteoporosis Paget’s Disease Rare Diseases: Osteogenesis Imperfecta (OI) Hypophosphatasia (HPP)
- 6. WHAT IS HPP? Rare disease 5 types – perinatal to odontoHPP Adulthood Inborn error of metabolism, mutation in Tissue Non- Specific Alkaline Phosphatase (TNSALP) gene, causing impaired bone mineralisation.
- 7. WHAT IS HPP? PPi PPi Pi Cytosol Hydroxyapatite Ca++ Bone mineralisation PPi PPi Pi Cytosol Hydroxyapatite Ca++ Inhibition ↓ Bone mineralisation2 ↑ Calcium2,a ↑ Phosphate2,a aMay remain within normal limits.3
- 8. WHAT IS HPP? Rare disease 5 types – perinatal to odontoHPP Adulthood Inborn error of metabolism, mutation in Tissue Non- Specific Alkaline Phosphase (TNSALP) gene, causing lack of mineralisation. Adult symptoms: Stress and Fragility fractures Osteoporosis Chronic pain and weakness Renal problems Psychiatric issues – insomnia, anxiety depression
- 9. DAY TO DAY Patient Recruitment Consent (day case, workup) Phlebotomy Sample handling Patient Visits Phlebotomy Muscle function tests Sample Handling Data handling Telephone screening OI recruitment – 100K Genome Project Plasma sample handling in the CRF lab
- 10. THE PLACEMENT PROCESS Application in November Placement Portal One interview – offer same day Unpaid placement Student finance NHS Card – Discount Free hospital shuttle bus
- 11. PLACEMENTS IN GENERAL Skills Learned Connections in research Working with patient Time for work Extra teaching sessions Unpaid HR issues – slow to start Positives Negatives
- 12. QUESTIONS?
Editor's Notes
- The organisation of my placement was spilt across to integrated units: The AUBM and the Mellanby Centre. The AUBM is a bone research unit that is based at the MBC at the Northern General Hospital, this is where a was based most of the time. The MBC is a working hospital day unit where patients attend for things such as DXA scans, clinical consultations and day case treatment. AUBM also has labs based at the Medical School and works in Clinical Research Facility in the NGH (there is also one at the Hallamshire). The Mellanby Centre is based at these labs and is a collaboritive centre for bone research. Prof Richard Eastell is the director for both the AUBM and Mellanby centre, and was my overall supervisor while on placement.
- The AUBM is a relatively small group made up of about 25 people with a diverse mix of clinical doctors, postdoc researchers, PhD students, nurses and other general staff.
- I was fortunate to be on placement at the AUBM with two other Hallam students, Lucy and Charlotte, who you have already heard from today.
- Function of bone: Support Movement Protection Hematopoiesis Calcium reservoir The basic functions of Bone are to provide support (posture) and protection (eg ribs protecting heart and lungs) and help with the movement of the body. They are also essential in the process of hematopoiesis (production of blood cells) and act as a calcium reservoir. Bones need to be strong but light, balance between stiffness and flexibility; able to respond to change and resilient Often bones are thought of as static solid structures but they are actually in a near constant state of renewal – known as ‘bone turnover’. Each year the body has an average of 10% bone turnover. The turnover cycle takes about 3 months and is followed by mineralisation. A number of factors such as age, gender, ethnicity and clinical factors (like disease) can have an effect on your Bone mass but in general your bone mass peak is reached towards your late 20s. Can be assessed by your BMD via DXA scans at units such as Met bone centre.
- HPP is a rare disease with estimated prevalence rates of *. There are 5 types of HPP with Perinatal being the most severe (near 100% fatality) and ondohpp being the most mild (only effects the teeth). At the MBC the research was mainly focused on Adult HPP. The disease is normally caused by an inborn error in metabolism stemming from a mutation in the TNSALP gene, currently there have been over 30* different gene alterations recorded that are linked to the disease. The Mutation can cause a reduction in TNSALP produced causing a lack of bone mineralisation.
- In normal circumstances (figure 1) TNSALP dephosphorylates (inorganic Pyrophosphate) PPi to inorganic phosphate, this allows the inorganic phosphate to react with calcium to form hydroxyapatite crystals which aid bone mineralisation. In HPP the TNSALP isn’t produced meaning PPi isn’t dephosphorylated meaning no hydroxyapatite is produced. As you can see from figure 2 PPi also acts as an inhibitor for the reaction Pi and Calcium which can further reduces the rates of bone mineralisation.
- Symptoms of the disease include things such as:
- In my Day to day on Placement; my main role involved the requirement of patients to a Study invesitgating Biomakers associated with HPP and the characteristics and burdens of the Adult disease. Scan techs would bring patient they believed suitable and we would then explain the study and take them through the consent process. I was fortunate to be trained in Venepuncture at placement so after consent blood would be taken. This blood was then taken to the CRF lab for processing – this involved simple lab techniques such as centrifugation and aliquoting, as shown in this image. Another main role of mine was being involved in patient study visits, alongside phlebotomy and sample handling this would also include things such muscle function tests. When not seeing patients or in the lab I carried out different tasks such as data entry, and telephone screening of potential study participants. An additional project that I was very excited to be involved in was the recruitment of OI patients into the 100k genome project, which is a national project run by genomics england. Charlotte and I were actually involved in the set up of the MBC as a recruitment centre.
- Regarding the placement process in general: I applied in November and was offered the placement the same day as the interview. Very fortunate as this was actually the first I had applied to. The placement was unpaid – but student finance, NHS card so discount, and free hospital shuttle bus.
- P – 1. venepuncture; sample handling; lab equipment (cobas roche) 2. Professors and PDRA; conference and events. 3. one on one contact everyday, good balance. 4. Complete lit review, presentation, portfolio mostly completed before final; more prepared for final year (advice from those that stayed). 5. 3 training sessions every month –range from scientific knowledge sessions e.g. on bone biomarkers to practical skills e.g. presentation skills, thesis writing N – 1. can be financially difficult, should still get your loan however problems with mine so didn’t get full entitlement until December. 2. HR didn’t process the application, not allowed to speak to patients un-accompanied so meant first couple of months didn’t have so much to do