Mitral valve prolapse presenting as a missed myocardial infarction (2023)

Type of publication:Conference abstract

Author(s):*Champaneri K.; *Miller A.

Citation:Journal of the Intensive Care Society. Conference: Intensive Care Society State of the Art Congress, SOA 2023. Birmingham United Kingdom. 24(2 Supplement) (pp 194), 2023. Date of Publication: August 2023.

Abstract:Introduction: An elderly but very active gentleman presented overnight with progressive shortness of breath and leg swelling, two weeks after experiencing chest pain while lifting heavy objects in the garden. The presumed diagnosis was a missed myocardial infarction leading to heart failure exacerbated by a new diagnosis of atrial fibrillation. Despite diuresis and rate control, he became progressively more hypoxic and was taken to ICU for non-invasive ventilation. An initial POCUS scan of heart and lungs by an ultrasound fellow undertaking FUSIC accreditation showed a hyperdynamic heart, pulmonary oedema, and bilateral pleural effusions. The echocardiogram was reviewed and repeated by an advanced level operator which dramatically altered the patient's diagnosis and management. Main body: A gentleman in his early 80s presented to the Emergency Department in type one respiratory failure with a high work of breathing. Examination and investigations demonstrated raised inflammatory markers, new atrial fibrillation with a rate of 140, large bilateral plural effusions, and pitting oedema to the groin. Troponin was normal, and the BNP was 4500. ECG showed no ischaemic changes and CXR was consistent with fluid overload and/or pneumonia. Initial management consisted of supplemental oxygen, diuretics, heart rate control, and antibiotics. Despite this his oxygenation deteriorated and he was admitted to the ICU for CPAP, and metaraminol for his hypotension. An initial FUSIC heart scan did not show any signs of ventricular failure. In fact, the heart was hyperdynamic which was more consistent with sepsis. A lung ultrasound did however demonstrate large bilateral plural effusions and the significant pitting oedema of the lower limbs found on clinical examination still suggested a cardiac cause and so help was asked of an advanced level operator. A review of the images and a repeat scan revealed a severe prolapse of the posterior mitral valve leaflet with free, eccentric mitral regurgitation. The leaflet prolapse was not visible on the 1st set of images and was only discovered by more comprehensive scanning. The patient was reviewed by a cardiologist within 30 minutes and transfer to a tertiary centre for emergency mitral valve repair was arranged. <br/>Conclusion(s): Standard history, examination, and investigations of this patient led to a presumed diagnosis of ischaemic ventricular failure. While a basic heart ultrasound did not reveal the pathology, it did demonstrate signs not consistent with the suspected diagnosis prompting a request for a more comprehensive ultrasound assessment. This revealed the underlying pathology, significantly altering the patient's management. This was all done by intensive care clinicians at the bedside, significantly shortening the time to diagnosis and correct management. This case is a good example of why Intensive Care clinicians should be trained in point of care ultrasound at both basic and advanced levels.

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Experience as an international mammographer working in the UK comparing practice between Nigeria and UK (2023)

Type of publication:Conference abstract

Author(s):*Okeke C.R.; *Njoku G.

Citation:Breast Cancer Research. Conference: Symposium Mammographicum Conference 2023. Glasgow United Kingdom. 25(Supplement 2) (no pagination), 2023. Date of Publication: October 2023.

Abstract:Breast cancer affects women of all races without exception even though severity and survival rate are often diverse. In Nigeria about two thirds of women with breast cancer are diagnosed at an advanced stage, with the possibility of metastatic spread (Akaro- Anthony et al., 2010). A mammographer performs breast imaging techniques that produce mammographic radiographs for diagnosis (American Society of Radiologic Technologist, 2017). In Nigeria, the breast screening programme is performed by radiographers with the additional mammogram-specific training which is comparable to what is found in the United Kingdom; however, the UK screening programme also makes use of trained assistant practitioners which is not obtainable in Nigeria (Lawal et al., 2015). The breast screening programme in Nigeria invites women between the ages of 40 to 70 years, and this is justified by the fear that in Nigeria, a higher percentage of breast cancer cases are seen in younger age groups than in developed world ((Jedy-Agba et al., 2012). The mode of invitation is through public awareness campaigns, but majority of the women in the population do not frequently participate in mammography screening due to high cost and religious belief. The screening programme in Nigeria encourages women to get screened every two years (Lawal et al., 2012). However, the UK breast screening programme advice women to have breast screening mammogram, once every 3 years and is currently inviting women between the ages of 50 and 70 years for breast screening.

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Increased detection of pericardial effusion during the COVID-19 pandemic (2023)

Type of publication:Conference abstract

Author(s):*Wilson A.; *Ellis C.; *Lee E.

Citation:Echo Research and Practice. Conference: British Society of Echocardiography Annual Meeting, BSEcho 2022. London United Kingdom. 10(Supplement 1) (no pagination), 2023. Date of Publication: September 2023.

Abstract:Background: Pericardial effusions (PE) occur when there is an excess of fluid accumulating within the pericardial space. We have observed an increase in the number of PE's detected amongst all transthoracic echocardiography (TTE) scans performed since the start of the COVID- 19 pandemic irrespective of cause for referral. This is interesting given that the most common cause of PE's in the Western World is considered to be post-viral infection. Aim(s): Validate a significant increase in the rate of PE detection via TTE from January 2020-December 2021 compared to the previous 3 years and compare PE detection with national COVID-19 infection data. Method(s): All TTE scans performed between January 2017 and December 2021 were utilised to generate rates of PE detection. A t-test was performed to assess for a significant difference in PE detection pre-COVID-19 (January 2017-December 2019) and during the pandemic (January 2020-December 2021). Data on the incidence of COVID-19 cases in the UK was gathered from the Gov.uk website. Result(s): A total of 37,069 TTE's were performed pre-COVID-19 and 24,125 scans post-COVID-19. Majority of the 2020-2021 TTE's were performed in low risk COVID-19 patients. There were significantly more PE's detected post-COVID-19 compared with pre-COVID-19 with rates of detection of 0.14 and 0.05 respectively (p < 0.001). Detection of PE's increased from 2017-2021 despite a decrease in total scans performed post-COVID-19 (Figure 1). Comparison with national COVID-19 infection data shows a peak in PE incidence following a peak in infections (Figure 2). Conclusion(s): We have noticed a significant increase in PE detection since the start of the COVID-19 pandemic. This appeared to track the incidence of national COVID-19 infections.

Is the 3 mm tolerance for axillary node biopsy still adequate for indication of axillary disease? Retrospective audit (2023)

Type of publication:Conference abstract

Author(s):Deane L.; Cielecki L.; Williams S.; Metelko M.; Alkouly M.; Aksoy U.; Vaughan J.; Burley S.; Barlow E.; Cobby E.

Citation:Breast Cancer Research. Conference: Symposium Mammographicum Conference 2023. Glasgow United Kingdom. 25(Supplement 2) (no pagination), 2023. Date of Publication: October 2023.

Abstract:Background: A 3 mm tolerance for cortical thickness on axillary lymph nodes is a standard measurement used as one of the thresholds to decide if potentially suspicious for disease. Our department conducted an audit of the ultrasound outcomes for lymph node involvement in the axilla after several unexpected positive post-surgical cases with previously negative axillae on ultrasound, were obtained. This could impact the patient directly if further axillary surgery was required. Method(s): 12 months of ultrasound results were compared to the pathology results for surgical axillary biopsy, lymph node sampling and surgical axillary clearance. Result(s): Forty-seven cases out of 388 cases were false negative. Sensitivity was 41.25% and specificity was 91.56%. Analysis: Nineteen cases were excluded due to morphological data unavailable at the time of the audit. Twenty-eight cases analysed either revealed disease too small to be visualised, positive nodes not in the axilla, not biopsied by a second consultant when returning for biopsy procedure and learning difficulties. All these cases were conducted by different consultants on different ultrasound units. No identifiable trend was seen. Conclusion(s): The sensitivity is in keeping with peer review investigations and therefore the 3 mm threshold for identifying possible disease is still adequate. Any learning points from individual cases were taken forward to aid with service improvement.

Prevalence of Dyslipidemia and the Association With Levels of TSH and T4 Hormones Among Patients in South Region of Jordan (2023)

Type of publication:Journal article

Author(s):Atrooz O.M.; *Hiresh M.N.; Alghonmeen R.D.; Atrooz M.O.; Hiresh G.N.; Alasoufi A.M.; Atrooz I.O.

Citation:Journal of Medical Biochemistry. 42(4) (pp 706-713), 2023.

Abstract:Background: Glycolipid metabolism disorders (dysglycolipidemia) are characterized by elevated levels of glycolipid profile components and fasting blood glucose. Dysglycolipidemia are major threats to human health and life. Therefore, the aim of this cross-sectional study is to estimate the prevalence of dysglycolipidemia and the existence of association of TSH and T4 and glycolipid profiles. Method(s): Cross-sectional data were obtained from the medical laboratory of Ma'an Governmental Hospital. A total of 141 patients' results were collected (18-60 years). Differences in the glycolipidemic profiles according to age and sex and TSH and T4 were compared. Different statistical analyses were used to analyze the prevalence of dysglycolipidemia and the correlation with the levels of TSH and T4. Result(s): The study involved results of 141 patients (54.7% males and 45.3% females) in Ma'an Province (Jordan), who visited the internal medicine clinic at Ma'an Governmental Hospital. Patients have overweight and BMI of more than 25 kg/m<sup>2</sup>. The overall results of the prevalence of dyslipidemia indicated that patients have 42.5% of hypercholesterolemia, 48.2% of high LDL-C, 34.1% of hypertriglyceridemia, and 41.8% of low HDL-C. The prevalence of isolated lipid profiles showed that 10 patients have mixed dyslipidemia. The association of dyslipidemia with age indicated a positive significance between triglyceride and older people (>=40 years), while HDL levels have a significance with gender (p=0.025). The overall ANOVA model yielded non-statistical significant results between levels of any components of lipid profile and levels of TSH and T4 hormones. Welch test (p=0.036) showed positive significance between levels of fasting blood glucose and triglyceride levels. Conclusion(s): Our results showed and confirmed the presence of a high percentage of hyperlipidemia in Ma'an province and there was no relationship with levels of TSH and T4. A relationship exists between levels of triglycerides and blood glucose concentrations.

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GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (2023)

Type of publication:
Journal article

Author(s):
Pairo-Castineira E.; Rawlik K.; Bretherick A.D.; Qi T.; Wu Y.; Nassiri I.; McConkey G.A.; Klaric L.; Kousathanas A.; Richmond A.; Malinauskas T.; Thwaites R.; Morrice K.; Maslove D.; Semple M.G.; Knight J.; Hinds C.; Horby P.; Ling L.; McAuley D.; Montgomery H.; Openshaw P.J.M.; Begg C.; Walsh T.; Tenesa A.; Flores C.; Riancho J.A.; Rojas-Martinez A.; Clohisey S.; Millar J.; Aitkin E.; Aravindan L.; Armstrong R.; Biggs H.; Boz C.; Chikowore P.; Coutts A.; Coyle J.; Cullum L.; Das S.; Day N.; Donnelly L.; Duncan E.; Finernan P.; Fourman M.H.; Furlong A.; Furniss J.; Gallagher B.; Gilchrist T.; Golightly A.; Griffiths F.; Hafezi K.; Hamilton D.; Hendry R.; Kearns N.; Law D.; Law R.; Law S.; Lidstone-Scott R.; Lauder C.; Macgillivray L.; Maclean A.; Mal H.; McCafferty S.; McMaster E.; Meikle J.; Murphy S.; Mybaya H.; Oosthuyzen W.; Zheng C.; Chen J.; Parkinson N.; Paterson T.; Tucker P.; Schon K.; Stenhouse A.; Das M.; Swets M.; Szoor-McElhinney H.; Taneski F.; Turtle L.; Wackett T.; Ward M.; Weaver J.; Wrobel N.; Zechner M.; Pan J.; Grau N.; Jones T.O.; Lim R.; Marotti M.; Whitton C.; Bociek A.; Campos S.; Arbane G.; Shankar-Hari M.; Ostermann M.; Cha M.; DAmato F.; Kosifidou E.; Lorah S.; Morera K.; Brady L.; Hugill K.; Henning J.; Bonner S.; Headlam E.; List A.; Morley J.; Welford A.; Kamangu B.; Ratnakumar A.; Shoremekun A.; Alldis Z.; Astin-Chamberlain R.; Bibi F.; Biddle J.; Blow S.; Bolton M.; Borra C.; Bowles R.; Burton M.; Choudhury Y.; Cox A.; Ebano P.; Fotiadis S.; Gurasashvili J.; Halls R.; Hartridge P.; Kallon D.; Kassam J.; Lancoma-Malcolm I.; Matharu M.; May P.; Mitchelmore O.; Newman T.; Patel M.; Pheby J.; Pinzuti I.; Prime Z.; Prysyazhna O.; Shiel J.; Tierney C.; Zongo O.; Zak A.; Mundy M.; Thompson C.; Pritchard L.; Gellamucho M.; Cartlidge D.; Bandla N.; Bailey L.; Delaney J.; Scott L.; Abdelrazik M.; Alasdair F.; Carter D.; Elhassan M.; Ganesan A.; Lamond Z.; Purohit D.; Rohit K.; Saleem M.; Wall A.; Xavier K.; Bakthavatsalam D.; Gehad K.; Gnanapragasam P.; Jain K.; Jain S.; Malik A.; Pappachan N.; Moreno-Cuesta J.; Haldeos A.; Vincent R.; Oziegb M.; Cavazza A.; Cockrell M.; Corcoran E.; Depante M.; Finney C.; Jerome E.; Knighton A.; Nayak M.; Pappa E.; Saha S.; Dodd A.; O'Reilly K.; McPhail M.; Clarey E.; Noble H.; Coghlan P.; Brett S.; Gordon A.; Templeton M.; Antcliffe D.; Banach D.; Darnell S.; Fernandez Z.; Jepson E.; Mohammed A.; Rojo R.; Arias S.S.; Gurung A.T.; Fernandez-Roman J.; Hamilton D.O.; Johnson E.; Johnston B.; Martinez M.L.; Mulla S.; Waite A.A.C.; Williams K.; Waugh V.; Welters I.; Emblem J.; Norris M.; Shaw D.; Bashyal A.; Beer S.; Hutton P.; McKechnie S.; Davidson N.; Readion G.; Ryu J.; Wilson J.; Agrawal S.; Elston K.; Jones M.; Meaney E.; Polgarova P.; Elbehery M.; Summers C.; Daubney E.; Ng A.; Marshall J.; Pathan N.; Stroud K.; White D.; Andrew A.; Ashraf S.; Dent M.; Langley M.; Peters C.; Ryan L.; Sampson J.; Wei S.; Baddeley A.; Meredith M.; Morris L.; Gibbons A.; McLoughlin L.; Delgado C.C.; Clark V.; Dawson D.; Ding L.; Durrant G.; Ezeobu O.; Hurt W.J.; Kanu R.; Kinch A.; Leaver S.; Lisboa A.; Mathew J.; Patel K.; Saluzzio R.P.; Rawlins J.; Samakomva T.; Shah N.; Sicat C.; Texeira J.; De Queiroz J.G.; Da Gloria E.F.; Maccacari E.; Yun N.; Manna S.; Farnell-Ward S.; Maizcordoba M.; Thanasi M.; Ali H.H.; Hastings J.; Grauslyte L.; Hussain M.; Ruge B.; King S.; Pogreban T.; Rosaroso L.; Smith H.; Phull M.-K.; *Adams N.; Franke G.; George A.; Salciute E.; Wong J.; Dunne K.; Flower L.; Sharland E.; Sra S.; Andrew G.; Callaghan M.; Barclay L.; Baillie K.; Hope D.; Mcculloch C.; Allen M.; Baptista D.; Crowe R.; Fox J.; Khera J.; Loveridge A.; McKenley I.; Morino E.; Naranjo A.; O'Connor D.; Simms R.; Sollesta K.; Swain A.; Herdman-Grant R.; Joseph A.; Nown A.; Rose S.; Pogson D.; Boxall H.; Brimfield L.; Claridge H.; Daly Z.; George S.; Gribbin A.; Cheema Y.; Cutler S.; Richards O.; Roynon-Reed A.; Cherian S.; Heron A.E.; Williams G.; Szakmany T.; Waters A.; Dunhill J.; Jones F.; Morris R.; Ship L.; Cardwell A.; Ali S.; Bhatterjee R.; Bolton R.; Chukkambotla S.; Coleman D.; Dalziel J.; Dykes J.; Fine C.; Gay B.; Goddard W.; Goodchild D.; Harling R.; Hijazi M.; Keith S.; Khan M.; Matt R.; Ryan-Smith J.; Saad S.; Springle P.; Thomas J.; Truman N.; Kazi A.; Smith M.; Collier H.; Davison C.; Duberley S.; Hargreaves J.; Hartley J.; Patel T.; Kent A.; Goodwin E.; Zaki A.; Tibke C.; Hopkins S.; Gerrard H.; Jackson M.; Bennett S.; Mills R.; Bell J.; Campbell H.; Dawson A.; Dodds S.; Duffy S.; Gallagher L.; McCafferty G.; Short S.; Thomas K.; Walker C.; Reynolds J.; Yates B.; McKie H.; Panteli M.; Thompson M.; Waddell G.; De Beger S.; Abraheem A.; Dunmore C.; Girach R.; Jones R.; London E.; Nagra I.; Nasir F.; Sainsbury H.; Smedley C.; Brearey S.; Burchett C.; Faulkner M.; Jeffrey H.; Bamford P.; Shaikh F.; Slack L.; Davies A.; Brooke H.; Suarez J.C.; Charlesworth R.; Hansson K.; Norris J.; Poole A.; Sandhu R.; Smithson E.; Thirumaran M.; Wagstaff V.; Buckley S.; Sloan B.; Rose A.; Major A.; Metcalfe A.; Almaden-Boyle C.; Austin P.; Chapman S.; Eros A.; Cabrelli L.; Cole S.; Whyte C.; Casey M.; Bafitis V.; Tsinaslanidis G.; George C.; Khade R.; Black C.; Ashok S.R.; Farley S.; Brinkworth E.; Harford R.; Murphy C.; Williams M.; Newey L.; Toghill H.; Lewis S.; Rees T.; Battle C.; Baker M.; Travers J.; Chesters K.; Baxter N.; Arnott A.; McCreath G.; Rooney L.; Sim M.; Henderson S.; Dalton C.; Kennedy-Hay S.; O'Donohoe L.; O'Hare M.; Orlikowska I.; McNeela F.; Lyle A.; Hughes A.; Radhakrishnan J.; Gibson S.; Bancroft H.; Bellamy M.; Daglish J.; Kadiri S.; Moore F.; Rhodes J.; Sangombe M.; Peterkin Z.; Carmody M.; Cottle J.; Peasgood E.; de Gordoa L.O.-R.; Cinquina Z.; Howard K.; Joy R.; Roche S.; Birkinshaw I.; Carter J.; Ingham J.; Marshall N.; Pearson H.; Scott Z.; Dasgin J.; Gill J.; Nilsson A.; Hull D.; Ahmadhaider N.; Bates M.; McGhee C.; Ellis H.; Howe G.S.; Singh J.; Stroud N.; Lynch C.; Krishnamurthy V.; Lim L.; Jha R.; Egan J.; Felton T.; Glasgow S.; Padden G.; Choudhr O.; Moss S.; Lingeswaran S.; Alexander P.; Fiouni S.; Ward L.; Allen S.; Shaw J.; Smith C.; Adanini O.; Collins R.; Msiska M.; Ofori L.; Bhatia N.; Dolan H.; Brunton M.; Caterson J.; Coles H.; Keating L.; Tilney E.; Jacques N.; Frise M.; Armistead J.; Bartley S.; Bhuie P.; Rai S.; Tomkova G.; Greer S.; Shuker K.; Tridente A.; Dobson E.; Tully R.; Dearden J.; Drummond A.; Kamath P.; Mulcahy M.; Munt S.; O'Connor G.; Philbin J.; Rishton C.; Scott C.; Winnard S.; Hasni N.; Gascoyne R.; Hawes J.; Pritchard K.; Stevenson L.; Whileman A.; Beavis S.; Bishop L.; Cart C.; Dale K.; Kelly-Baxter M.; Mendelski A.; Moakes E.; Smith R.; Woodward J.; Wright S.; Allan A.; Botello A.; Liew J.; Medhora J.; Trumper E.; Savage F.; Scott T.; Place M.; Kaye C.; Benyon S.; Marriott S.; Park L.; Quinn H.; Skyes D.; Zitter L.; Baines K.; Gordon E.; Keenan S.; Pitt A.; Duffy K.; Ireland J.; Semple G.; Turner L.; Cathcart S.; Rimmer D.; Puxty A.; Puxty K.; Hurst A.; Miller J.; Speirs S.; Bradshaw Z.; Brown J.; Melling S.; Preston S.; Slawson N.; Warden S.; Beasley A.; Stoddard E.; Benham L.; Cupitt J.; Caswell M.; Elawamy L.; Wignall A.; Roberts B.; Golding H.; Leggett S.; Male M.; Marani M.; Prager K.; Williams T.; Golder K.; Jones O.; Cusack R.; Bolger C.; Burnish R.; Carter M.; Jackson S.; Salmon K.; Biss J.; Aquino M.; Croft M.; Frost V.; White I.; Govender K.; Webb N.; Stapleton L.; Wells C.; Nikitas N.; Sanchez-Rodriguez A.; Spencer K.; Stowe B.; Izzard Y.; Poole M.; Monnery S.; Trotman S.; Beech V.; Combes E.; Joefield T.; Covernton P.; Savage S.; Woodward E.; Camsooksai J.; Reschreiter H.; Barclay C.; DeAth Y.; Dube J.; Humphrey C.; Jenkins S.; Langridge E.; Milne R.; Wadams B.; Woolcock M.; Brett M.; Digby B.; Gemmell L.; Hornsby J.; MacGoey P.; O'Neil P.; Price R.; Sundaram R.; Abel L.; Rodden N.; Thomson N.; Rooney K.; Currie S.; Parker N.; Walker L.; Henderson P.; Ogg B.; Whiteley S.; Wilby L.; Long K.; Matthew S.; Salada S.; Trott S.; Watts S.; Friar Z.; Speight A.; Bastion V.; Chandna H.; Djeugam B.; Haseeb M.; Kent H.; Lubimbi G.; Murdoch S.; David B.; Lorusso R.; Vochin A.; Penacerrada M.; Wulandari R.; Heath C.; Jakkula S.; Morris A.; Ahmed A.; Nune A.; Buttriss C.; Whitaker E.; Davey M.; Golden D.; Acklery A.; Fernandes F.; Seaman B.; Earl V.; Collins A.; Adam R.; Treus E.; Holland S.; Alfonso J.; Bruce M.; Durrans L.J.; Eltayeb A.; Hey S.; Hruska M.; Lamb T.; Rothwell J.; Fitzgerald A.; Lindergard G.; T-Michael H.; Duncan T.; Baxter-Dore S.; Fox C.; Guerin J.; Hodgkiss T.; Connolly K.; McAlinden P.; Bridgett V.; Fearby M.; Gulati A.; Hanson H.; Kelly S.; McCormack L.; Nixon R.; Robinson P.; Slater V.; Stephenson E.; Webster A.; Webster K.; Hays C.; Hudson A.; Clement I.; Davis J.; Francis S.; Jerry D.; Abernathy C.; Foster L.; Gratrix A.; Cabral-Ortega L.; Hines M.; Martinson V.; Stones E.; Winter K.; Barrow E.; Wylie K.; Baines D.; Kolakaluri L.; Clark R.; Sukumaran A.; Brandwood C.; Barker M.; Paripoorani D.; Taylor C.; Downes C.; Hayman M.; Riches K.; Daniel P.; Subramanian D.; Holding K.; Hilton M.; McDonald C.; Richardson G.; Halladay G.; Harding P.; Reddy A.; Turner-Bone I.; Wilding L.; Parker R.; Lloyd M.; Smith L.; Kelly C.; Lazo M.; Neal A.; Walton O.; Melville J.; Naisbitt J.; Bullock E.; Joseph R.; Callam S.; Hudig L.; Keshet-Price J.; Stammers K.; Convery K.; Randell G.; Fottrell-Gould D.; Mwaura E.; Sutherland S.-B.; Stewart R.; Mew L.; Wren L.; Thrasyvoulou L.; Willis H.; Scriven J.; Hopkins B.; Lenton D.; Roberts A.; Bokhari M.; Lucas R.; McCormick W.; Ritzema J.; Linnett V.; Sanderson A.; Wild H.; Flanagan R.; Hull R.; Rhead K.; McKenna E.; Hughes G.; Anderson J.; Jones K.; Latham S.; Riley H.; Coulding M.; Mercer O.; Potla D.; Rehman H.; Savill H.; Turner V.; Jude E.; Kilroy S.; Apetri E.; Basikolo C.; Blackledge B.; Catlow L.; Collis M.; Doonan R.; Harris J.; Harvey A.; Knowles K.; Lee S.; Lomas D.; Lyons C.; McMorrow L.; Michael A.; Pendlebury J.; Perez J.; Poulaka M.; Proudfoot N.; Slevin K.; Thomas V.; Walker D.; Dark P.; Charles B.; McLaughlan D.; Slaughter M.; Horner D.; Cawley K.; Marsden T.; Andrews J.; Beech E.; Akinkugbe O.; Bamford A.; Belfield H.; Jones G.A.L.; McHugh T.; Meghari H.; Ray S.; Tomas A.L.; O'Neill L.; Peters M.; Bell M.; Benkenstein S.; Chisholm C.; Kupiec K.; Payne C.; Halls J.; Blakemore H.; Goff E.; Hayes K.; Smith K.; Stephens D.; Worner R.; Borislavova B.; Faulkner B.; Thomas M.; Cookson R.; Gendall E.; Larman G.; Pope R.; Smalira A.; Priestley V.; Cosier T.; Millen G.; Rand J.; Schumacher N.; Sandhar R.; Weston H.; Richardson N.; Cooper L.; Jones C.; Huang Y.-W.J.; Jacob R.; Denmade C.; McIntyre L.; Trodd D.; Martin J.; Watson G.; Bevan E.; Wreybrown C.; Bano S.; Bellwood R.; Bentley M.; Bromley M.; Gurr L.; Ledgard C.; McGowan J.; Pye K.; Sellick K.; Stacey A.; Warren D.; Wilkinson B.; Akeroyd L.; Shafique H.; Morgan J.; Shorter S.; Swinger R.; Waters E.; Lawton T.; Allan E.; Darlington K.; Davies F.; Davies L.; Easton J.; Kumar S.; Lean R.; Mackay C.; Pugh R.; Qiu X.; Rees S.; Scanlon J.; Lewis J.; Menzies D.; Bolger A.; Davies G.; Davies J.; Garrod E.; Jones H.; Manley R.; Williams H.; Frankham J.; Pitts S.; Branney D.; Tiller H.; Efford G.; Garland Z.; Grimmer L.; Gumbrill B.; Johnson R.; Sweet K.; Bewley J.; Coleman C.; Corcoran K.; Morano E.M.H.; Shiel R.; Webster D.; Bonnici J.; Daniel E.; Dell A.; Kent M.; Wilkinson A.; Brown E.; Kay A.; Campbell S.; Cowton A.; Greenaway V.; Potts K.; Hutton C.; Shepperson A.; Forsey M.; Vertue M.; Riches J.; Kaliappan A.; MacCallum N.; Bercades G.; Hass I.; Martir G.; Reyes A.; Smyth D.; Zapatamartinez M.; Alvaro A.; Jetha C.; Ma L.; Booker L.; Mostoles L.; Pratley A.; Altabaibeh A.; Parmar C.; Gilbert K.; Ferguson S.; Shepherd A.; Morris S.; Singleton J.; Baruah R.; Amamio M.; Birch S.; Briton K.; Clark S.; Doverman K.; Marshall L.; Simpson S.; Lloyd G.; Bell S.; Rivers V.; Purewal B.; Hammerton K.; Oleary R.; Cornell S.; Jarmain J.; Rogerson K.; Wakinshaw F.; Woods L.; Rostron A.; Elcioglu Z.; Roy A.; Bell G.; Dickson H.; Wilcox L.; Katary A.; English K.; Hutter J.; Pawley C.; Doble P.; Shovelton C.; Vaida M.; Purnell R.; Cagova L.; Fofano A.; Holcombe H.; Mitchell A.M.; Mwaura L.; Raman K.P.; Garnr L.; Mepham S.; Paques K.; Vuylsteke A.; Mackie J.; Pearn C.; Zamikula J.; Birt M.; Gude E.T.; Nyirenda M.; Capozzi L.; Reece-Anthony R.; Khaliq W.; Noor H.; Nilo A.C.; Grove M.; Daniel A.; Finn J.; White N.; Saha R.; Badal B.; Ixer K.; Duffin D.; Player B.; Hill H.; Davies M.; Davies R.; Hunt L.; Thomas E.; Oblak M.; Thankachen M.; Irisari J.; Sayan A.; Popescu M.; Finch C.; Jamieson A.; Quinn A.; Cooper J.; Liderth S.; Waddington N.; Burn I.; Manso K.; Penn R.; Tebbutt J.; Thornton D.; Winchester J.; Hambrook G.; Shanmugasundaram P.; Craig J.; Simpson K.; Sibbett L.; Paine S.; Conyngham J.-A.; Mupudzi M.D.; Thomas R.; Wright M.; Griffin D.; Partridge R.; Corral M.A.; Muchenje N.; Sitonik M.; Brown C.W.; Butler A.; Folkes L.; Fox H.; Gardner A.; Helm D.; Hobden G.; King K.; Margalef J.; Margarson M.; Martindale T.; Meadows E.; Raynard D.; Thirlwall Y.; Baird Y.; Gomez R.; Hodgson L.; Corin C.; Sidall E.; Szabo D.; Floyd S.; Davies H.; Austin K.; Kelsall O.; Wood H.; Anderson P.; Archer K.; Burtenshaw A.; Clayton S.; Cother N.; Cowley N.; Davis C.; Digby S.; Durie A.; Harrison A.; Low E.; McAlindon M.; McCurdy A.; Morgan A.; Rankin T.; Thrush J.; Tranter H.; Vigurs C.; Wild L.; Cornell T.; Ralph K.; Bean S.; Burt K.; Spivey M.; Richards C.; Tedstone R.; Carmody S.; Zhao X.; Page V.; Guanco M.L.; Hoxha E.; Zorloni C.; Dean C.; Jones E.; Carter E.; Dunn J.; Kong T.; Mahenthran M.; Marsh C.; Holland M.; Keenan N.; Mahmoud M.; Lyons M.; Bradley-Potts J.; Wassall H.; Young M.; Bradley P.; Burda D.; Donlon S.; Harden L.; Harris C.; Mayangao I.; Montaser R.; Mtuwa S.; Piercy C.; Smith E.; Stone S.; Verula J.; Blackman H.; Marriott C.; Michalak N.; Creagh-Brown B.; Salberg A.; Boyer N.; Pristopan V.; Walker R.; Hormis A.; Collier D.; Graham C.; Maynard V.; McCormick J.; Warrington J.; Cosgrove D.; McFarland D.; Ratcliffe J.; Charnock R.; Wynter I.; Gill M.; Kirk J.; Paul P.; Ratnam V.; Shelton S.; Jardine C.; Hay A.; Williams D.; Deacon B.; Durga L.; Hibbert M.; Kennard-Holden G.; Woodford C.; Pothecary C.; Tetla D.; Agravante K.; Smeaton J.; Price A.; Thomas A.; Thorpe C.; Knights E.; Ward D.; Laha S.; Verlander M.; Williams A.; Prout R.; Langton H.; Watters M.; Hunt C.; Novis C.; Arif S.; Cunningham A.; Hewitt C.; Hindale J.; Jackson-Lawrence K.; Shepardson S.; Wills M.; Butler S.; Tavares S.; Barber R.; Hilldrith A.; Hubbard K.; Egginton D.; Clark M.; Purvis S.; Sinclair S.; Collins V.; Landeg B.; Sell C.; Coetzee S.; Gales A.; Icke B.; Raj M.; Williams C.; Williams J.; Hill L.; Kayani A.; Masunda B.; Gondo P.; Atayeva N.; Cruz C.; Pattison N.; Burnett C.; Hatton J.; Heeney E.; Newton M.; Al-Moasseb H.; Behan T.; Stead R.; Mitra A.; Humphreys S.; Cockerill H.; Tampsett R.; Postovalova E.; Coventry T.; Fowler S.; Macmahon M.; Cochrane P.; Pirie S.; Hanley S.; Ali A.; Brady M.; Dale S.; Dance A.; Gledhill L.; 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de la Horra C.; de la Hoz A.B.; De Martino-Rodriguez A.; de Sousa Alves Neri J.L.; del Campo-Perez V.; Delgado-Cuesta J.; Diaz-Caneja C.M.; Diaz-Perez A.; de Bustamante A.D.; Dietl B.; Diz-de Almeida S.; Alves M.M.; Dominguez-Garrido E.; dos Santos K.A.; Duarte A.M.; Echave-Sustaeta J.; Eiros R.; Enciso-Olivera C.O.; Escudero G.; Espana P.P.; Sanabria G.M.E.; Farinas M.C.; Fernandes M.R.; Fernandez R.; Fernandez-Caballero L.; Fernandez-Cruz A.; Fernandez-Nestosa M.J.; Fernandez-Robelo U.; Fernandez-Rodriguez A.; Fernandez-Sampedro M.; Fernandez-Sanchez R.; Fernandez-Villa T.; Ferrero S.F.; Martinez Y.F.; Capitan C.F.; Flores-Perez P.; Friaza V.; Fuenmayor-Hernandez L.; Nunez M.F.; Fumado V.; Gadea I.; Gagliardi L.; Gago-Dominguez M.; Gallego N.; Galoppo C.; Garcia I.; Garcia M.; Garcia L.; Garcia-Cerrada C.; Garcia-de-Vicuna A.; Garcia-Garcia J.; Garcia-Garcia I.; Garcia-Ibarbia C.; Garcia-Montero A.C.; Garcia-Soidan A.; Garcia-Vazquez E.; Torrejon M.C.G.; Garza-Frias E.; Gentile A.; Gil-Fournier B.; 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Candon A.M.; Aguilar P.M.; Martin M.M.; Martin M.D.; Martin V.; Martin-Fernandez M.; Martin-Lopez C.; Martin-Oterino J.-A.; Martin-Pedraza L.; Martin-Vicente M.; Martinez A.; Martinez R.; Martinez J.J.; Martinez S.; Martinez-Aquino E.; Martinez-Gonzalez O.; Martinez-Lopez I.; Martinez-Nieto O.; Martinez-Paz P.; Martinez-Perez A.; Martinez-Ramas A.; Martinez-Resendez M.F.; Robles V.M.; Marzal L.; Mazzeu J.F.; Medeiros J.F.P.; Medeiros K.A.; Medrano F.J.; Meijome X.M.; Mejuto-Montero N.; Mendez-Echevarria A.; Charris H.M.; Macias E.M.; Mercadillo F.; Mercado-Sesma A.R.; Minguez P.; Molina A.J.J.; Molina-Roldan E.; Montoya J.J.; Moraes V.M.S.; Moreira-Escriche P.; Morelos-Arnedo X.; Moreno-Docon A.; Moreno-Escalante J.; Cuerda V.M.; Fernandez A.M.; Morilla R.; Garcia P.M.; Neira P.; Nevado J.; Nieto-Ganan I.; Nunes J.F.R.; Nunez-Torres R.; Obrador-Hevia A.; Ocejo-Vinyals J.G.; Olivar V.; Oliveira S.F.; Ondo L.; Orfao A.; Ortega L.; Ortega-Paino E.; Ortiz-Flores F.; Ortiz-Lopez R.; Oteo J.A.; Pachajoa H.; Pacheco M.; Pacheco-Miranda F.J.; Conejo I.P.; Panadero-Fajardo S.; Parellada M.; Pariente-Rodriguez R.; Paz-Artal E.; Peces-Barba G.; Pedromingo Kus M.S.; Perales C.; Perez P.; Perez C.; Perez-de-Nanclares G.; Perez-Garcia F.; Perez-Matute P.; Perez-Serra A.; Perez-Tomas M.E.; Perucho T.; Pichardo L.A.; Pinho S.M.T.; Pinsach-Abuin M.; Pinzon L.A.; Pita G.; Pla-Junca F.; Planas-Serra L.; Pompa-Mera E.N.; Porras-Hurtado G.L.; Pujol A.; Chavez M.E.Q.; Quijada M.A.; Quintela I.; Ramirez-Montano D.; Leon S.R.; Sedes P.R.; Recalde D.; Recio-Fernandez E.; Resino S.; Ribeiro A.P.; Rivadeneira-Chamorro C.S.; Roa-Agudelo D.; Pardo M.R.; Rodriguez M.J.; Rodriguez-Artalejo F.; Rodriguez-Ferrer M.; Rodriguez-Gallego C.; Rodriguez-Garcia J.A.; Rodriguez-Hernandez M.A.; Rodriguez-Nicolas A.; Rodriguez-Palmero A.; Rodriguez-Ruiz E.; Rodriguez-Urrego P.A.; Maya B.R.; Novoa G.E.R.; Rojo F.; Romero-Coronado A.; Garcia F.R.; Rosa L.S.; Rosales-Castillo A.; Rubio C.; Olivera M.R.; Ruiz M.; Ruiz-Cabello F.; 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Villoslada-Blanco P.; Virseda-Berdices A.; Yanez Z.; Zapatero-Gaviria A.; Zarate R.; Zazo S.; de Heredia M.L.; Mendes I.; Moreno R.; Sande E.; Lapunzina P.; Alex B.; Andrikopoulos P.; Bach B.; Barclay W.S.; Bogaert D.; Chand M.; Chechi K.; Cooke G.S.; da Silva Filipe A.; de Silva T.; Docherty A.B.; dos Santos Correia G.; Dumas M.-E.; Dunning J.; Fletcher T.; Green C.A.; Greenhalf W.; Griffin J.; Gupta R.K.; Harrison E.M.; Ho A.Y.W.; Holden K.; Horby P.W.; Ijaz S.; Khoo S.; Klenerman P.; Lewis M.; Liggi S.; Lim W.S.; Maslen L.; Mentzer A.J.; Merson L.; Meynert A.M.; Moore S.C.; Noursadeghi M.; Olanipekun M.; Osagie A.; Palmarini M.; Palmieri C.; Paxton W.A.; Pollakis G.; Price N.; Rambaut A.; Robertson D.L.; Russell C.D.; Sancho-Shimizu V.; Sands C.; Scott J.T.; Sigfrid L.; Solomon T.; Sriskandan S.; Stuart D.; Swann O.V.; Takats Z.; Takis P.; Tedder R.S.; Thompson A.A.R.; Thomson E.C.; Thwaites R.S.; Turtle L.C.W.; Zambon M.; Carson G.; Drake T.M.; Fairfield C.J.; Knight S.R.; Mclean K.A.; 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Citation:
Nature. 617(7962) (pp 764-768), 2023. Date of Publication: 25 May 2023.

Abstract:
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown<sup>1</sup> to be highly efficient for discovery of genetic associations<sup>2</sup>. Despite the advanced stage of illness at presentation, we have shown that host genetics in patients who are critically ill with COVID-19 can identify immunomodulatory therapies with strong beneficial effects in this group<sup>3</sup>. Here we analyse 24,202 cases of COVID-19 with critical illness comprising a combination of microarray genotype and whole-genome sequencing data from cases of critical illness in the international GenOMICC (11,440 cases) study, combined with other studies recruiting hospitalized patients with a strong focus on severe and critical disease: ISARIC4C (676 cases) and the SCOURGE consortium (5,934 cases). To put these results in the context of existing work, we conduct a meta-analysis of the new GenOMICC genome-wide association study (GWAS) results with previously published data. We find 49 genome-wide significant associations, of which 16 have not been reported previously. To investigate the therapeutic implications of these findings, we infer the structural consequences of protein-coding variants, and combine our GWAS results with gene expression data using a monocyte transcriptome-wide association study (TWAS) model, as well as gene and protein expression using Mendelian randomization. We identify potentially druggable targets in multiple systems, including inflammatory signalling (JAK1), monocyte-macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

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The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders (2023)

Type of publication:Journal article

Author(s):Abdallah, Shenouda; Sharifa, Mouhammad; I Kh Almadhoun, Mohammed Khaleel; Khawar, Muhammad Muneeb Sr; Shaikh, Unzla; Balabel, Khaled M; Saleh, Inam; Manzoor, Amima; Mandal, Arun Kumar; *Ekomwereren, Osatohanmwen; Khine, Wai Mon; Oyelaja, Oluwaseyi T.

Citation:Cureus. 15(10):e46860, 2023 Oct.

Abstract:Rare genetic disorders (RDs), characterized by their low prevalence and diagnostic complexities, present significant challenges to healthcare systems. This article explores the transformative impact of artificial intelligence (AI) and machine learning (ML) in addressing these challenges. It emphasizes the need for accurate and early diagnosis of RDs, often hindered by genetic and clinical heterogeneity. This article discusses how AI and ML are reshaping healthcare, providing examples of their effectiveness in disease diagnosis, prognosis, image analysis, and drug repurposing. It highlights AI's ability to efficiently analyze extensive datasets and expedite diagnosis, showcasing case studies like Face2Gene. Furthermore, the article explores how AI tailors treatment plans for RDs, leveraging ML and deep learning (DL) to create personalized therapeutic regimens. It emphasizes AI's role in drug discovery, including the identification of potential candidates for rare disease treatments. Challenges and limitations related to AI in healthcare, including ethical, legal, technical, and human aspects, are addressed. This article underscores the importance of data ethics, privacy, and algorithmic fairness, as well as the need for standardized evaluation techniques and transparency in AI research. It highlights second-generation AI systems that prioritize patient-centric care, efficient patient recruitment for clinical trials, and the significance of high-quality data. The integration of AI with telemedicine, the growth of health databases, and the potential for personalized therapeutic recommendations are identified as promising directions for the field. In summary, this article provides a comprehensive exploration of how AI and ML are revolutionizing the diagnosis and treatment of RDs, addressing challenges while considering ethical implications in this rapidly evolving healthcare landscape.

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Improving the Outcome of Patients With Heart Failure: Assessment of Iron Deficiency and Intravenous Iron Replacement (2023)

Type of publication:Journal article

Author(s):*Yera, Hassan O; Khan, Ahsan; Akinlade, Olawale M; Champsi, Asgher; Glouzon, Van Nam J; Spencer, Charles.

Citation:Cureus. 15(10):e47027, 2023 Oct.

Abstract:Background Iron deficiency (ID) has been shown to be a significant co-morbidity in patients with heart failure (HF), independent of their anaemia status. Correction of ID has been shown to improve quality of life, recurrent heart failure hospitalizations and morbidity. A quality improvement project was designed to improve the assessment and treatment of iron deficiency in HFatients in our tertiary care centre. Methods and results An initial baseline dataset was collected, followed by two cycles of interventions to help improve the care of HF patients admitted to our hospital over a two-month period. The Plan-Do-Study-Act (PDSA) cycle approach was applied, with the first intervention involving raising awareness of the importance and need to assess the iron status of HF patients through education provided to doctors, nurses and patients. Furthermore, information leaflets were produced and disseminated across the medical wards and through social media forums. The post-intervention datasets were collected and compared to the baseline outcomes. Baseline data showed that only four (20%) of heart failure patients had their iron status checked. Following the interventions, screening for ID increased to 80% (16), of which 85% (11) of those who identified as iron deficient received intravenous iron replacement. Conclusion The project was successful in improving the practice of screening for iron deficiency and intravenous replacement of iron in patients with HF.

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The development and acceptability of an educational and training intervention for recruiters to neonatal trials: the TRAIN project (2023)

Type of publication:Journal article

Author(s):Smith, V; Delaney, H; Hunter, A; Torgerson, D; Treweek, S; Gamble, C; Mills, N; Stanbury, K; Dempsey, E; Daly, M; O'Shea, J; Weatherup, K; *Deshpande, S; Ryan, M A; Lowe, J; Black, G; Devane, D.

Citation:BMC Medical Research Methodology. 23(1):265, 2023 Nov 11.

Abstract:BACKGROUND: Suboptimal or slow recruitment affects 30-50% of trials. Education and training of trial recruiters has been identified as one strategy for potentially boosting recruitment to randomised controlled trials (hereafter referred to as trials). The Training tRial recruiters, An educational INtervention (TRAIN) project was established to develop and assess the acceptability of an education and training intervention for recruiters to neonatal trials. In this paper, we report the development and acceptability of TRAIN. METHODS: TRAIN involved three sequential phases, with each phase contributing information to the subsequent phase(s). These phases were 1) evidence synthesis (systematic review of the effectiveness of training interventions and a content analysis of the format, content, and delivery of identified interventions), 2) intervention development using a Partnership (co-design/co-creation) approach, and 3) intervention acceptability assessments with recruiters to neonatal trials. RESULTS: TRAIN, accompanied by a comprehensive intervention manual, has been designed for online or in-person delivery. TRAIN can be offered to recruiters before trial recruitment begins or as refresher sessions during a trial. The intervention consists of five core learning outcomes which are addressed across three core training units. These units are the trial protocol (Unit 1, 50 min, trial-specific), understanding randomisation (Unit 2, 5 min, trial-generic) and approaching and engaging with parents (Unit 3, 70 min, trial-generic). Eleven recruiters to neonatal trials registered to attend the acceptability assessment training workshops, although only four took part. All four positively valued the training Units and resources for increasing recruiter preparedness, knowledge, and confidence. More flexibility in how the training is facilitated, however, was noted (e.g., training divided across two workshops of shorter duration). Units 2 and 3 were considered beneficial to incorporate into Good Clinical Practice Training or as part of induction training for new staff joining neonatal units. CONCLUSION: TRAIN offers a comprehensive co-produced training and education intervention for recruiters to neonatal trials. TRAIN was deemed acceptable, with minor modification, to neonatal trial recruiters. The small number of recruiters taking part in the acceptability assessment is a limitation. Scale-up of TRAIN with formal piloting and testing foreffectiveness in a large cluster randomised trial is required.

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