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1. Influence of right ventricular structure and function on hospital outcomes in COVID-19 patients.

Author

Oweis, Jozef, Leamon, Annie, Al-Tarbsheh, Ali H., Goodspeed, Katharine, Khorolsky, Ciril, Feustel, Paul, Naseer, Usman, Albaba, Isam, Parimi, Sai Anoosh, Shkolnik, Boris, Tiwari, Anupama, Chopra, Amit, and Torosoff, Mikhail

Abstract

The impact of the right ventricular (RV) structure and function on the in-hospital outcomes in patients with COVID-19 infection has not been rigorously investigated. The main aim of our study was to investigate in-hospital outcomes including mortality, ICU admission, mechanical ventilation, pressor support, associated with RV dilatation, and RV systolic dysfunction in COVID-19 patients without a history of pulmonary hypertension. It was a single academic tertiary center, retrospective cohort study of 997 PCR-confirmed COVID-19 patients. One hundred ninty-four of those patients did not have a history of pulmonary hypertension and underwent transthoracic echocardiography at the request of the treating physicians for clinical indications. Clinical endpoints which included mortality, ICU admission, need for mechanical ventilation or pressor support were abstracted from the electronic charts. Patients' mean age was 68+/-16 years old and 42% of the study population were females. COPD was reported in 13% of the study population, whereas asthma was 10%, and CAD was 25%. The mean BMI was 29.8+/-9.5 kg/m2. Overall mortality was 27%, 46% in ICU patients, and 9% in the rest of the cohort. There were no significant differences in co-morbidities between expired patients and the survivors. A total of 19% of patients had evidence of RV dilatation and 17% manifested decreased RV systolic function. RV dilatation or decreased RV systolic function were noted in 24% of the total study population. RV dilatation was significantly more common in expired patients (15% vs 29%, p = 0.026) and was associated with increased mortality in patients treated in the ICU (HR 2.966, 95%CI 1.067–8.243, p = 0.037), who did not need require positive pressure ventilation, IV pressor support or acute hemodialysis. In hospitalized COVID-19 patients without a history of pulmonary hypertension, RV dilatation is associated with a 2-fold increase in inpatient mortality and a 3-fold increase in ICU mortality. [ABSTRACT FROM AUTHOR]

Published
2023
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3. Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Author

Garrett, Alice, Allen, Sophie, Durkie, Miranda, Burghel, George J., Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Rowlands, Charlie F., McVeigh, Terri, Hanson, Helen, Turnbull, Clare, Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Martin, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., DeSouza, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Daniels, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Russell, K., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Duff, M., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Taylor, A., Brown, D., Willan, J., Taylor, S., Jones, K., Cox, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., O’Dubhshlaine, C., McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., and Hayden, C.

Abstract

Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance, despite increasing evidence of intervariant variability in risk associations. Using existing variant interpretation approaches, largely based on full-penetrance models, variants in which reduced penetrance is suspected may be classified inconsistently and/or as variants of uncertain significance. We aimed to develop a national consensus approach for such variants within the Cancer Variant Interpretation Group UK (CanVIG-UK) multidisciplinary network.

Published
2025
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6. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1and MSH2missense variants

Author

Loong, Lucy, Cubuk, Cankut, Choi, Subin, Allen, Sophie, Torr, Beth, Garrett, Alice, Loveday, Chey, Durkie, Miranda, Callaway, Alison, Burghel, George J., Drummond, James, Robinson, Rachel, Berry, Ian R., Wallace, Andrew, Eccles, Diana M., Tischkowitz, Marc, Ellard, Sian, Ware, James S., Hanson, Helen, Turnbull, Clare, Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.-C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Baple, E., Rauter, E., Johnston, E., Woodward, E., Maher, E., Sofianopoulou, E., Petrides, E., Lalloo, F., McRonald, F., Pelz, F., Frayling, I., Evans, G., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.-R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Martin, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., DeSouza, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Daniels, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Barlett, M., Watt, C., and Hegarty, M.

Abstract

Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice.

Published
2022
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7. The Impact of the Pharmaceutical Care Management Model of Hepatitis C Medications on the Cost at Health Insurance Level.

Author

Almahdi, Fadia B., Hashim, Almoutaz H., Albaba, Emad Aldin M., Salih, Ohoud N., Alkasam, Reem J., Mosli, Mahmoud H., and Alsulaimani, Ayman F.

Abstract

The aim of this study is to evaluate the impact of adopting a pharmaceutical care model on clinical outcomes, patient satisfaction, and cost at a health payer level. All patients with hepatitis C virus (HCV) who were insured by Bupa Arabia, with a direct-acting antivirals prior authorization drug request between April 2015 and October 2018 were included in this retrospective quasi-experimental study. The clinical outcome was the achievement of a sustained virologic response at least 12 weeks from end of treatment. Economic and patients' satisfaction outcomes were included in this study. The differences in cost of treatment was analyzed by using the paired t test. Stata statistical software package (StataCorp, College Station, TX) was used for data analysis. A total of 371 patients were enrolled in this program of which 74% (n = 273) required clinical intervention. Among those, HCV treatment was modified for 64%. The overall cure rate was 97% among 267 patients for which sustained virologic responses were available. The results of the paired t test show that there was a 38% reduction in the mean direct cost of medications before and after intervention (95% confidence interval, 33%-43%; P <.001) and the calculated patients' satisfaction was 98%. A structured pharmaceutical care program for HCV patients can guide the use of specialty medications to achieve optimal clinical outcomes, with lower expenditures and high patients' satisfaction. We can conclude that healthcare insurance can play a key role in managing specialty pharmaceuticals like HCV medications. Because this is a preliminary study, further studies are needed in an experimental design to strengthen the evidence behind the effectiveness of such a program. • This is the first-ever health insurance level report in a developing country that assessed the economic cost and clinical value of the pharmaceutical care program for chronic patients. Researches describing the impact of the pharmaceutical care are limited to the hospital and community pharmacies. Yet, this study is very important because it displays and builds the concept in view of different field, which is the health insurance system. • This study presents and displays that a new pharmaceutical care program for hepatitis C medications is necessary to achieve the best outcomes. In addition, it bridges the gap and shows the relation between several pharmaceutical concepts (pharmaceutical care model, and pharmaceutical specialties) with a new application at health insurance system. Moreover, it advocates a new role of the clinical pharmacist at health payer that is not available nowadays, at least in the Middle East. • This study specifically designed to highlight the importance of the pharmaceutical care program and its impact on the cost and promote an understanding on the possibilities of implementing such model that could be affecting a part of our community and to provide ways of dealing with it. It does as well to support the policy makers in the coverage of certain type of medications by health insurance system. [ABSTRACT FROM AUTHOR]

Published
2020
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8. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Author

Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, and Kleefstra, Tjitske

Abstract

Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3Avariants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ 8 years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10–12.

Published
2021
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9. Efficacy of DAAs in the Treatment of Chronic HCV: Real-World Data from the Private Health-Care Sector of the Kingdom of Saudi Arabia

Author

Hashim, Almoutaz, Almahdi, Fadia, Aldin Albaba, Emad, Barkia, Ohoud, Alkasam, Reem, Almahmoud, Asmaa, Nabil, Ahmed, Alsulaimani, Ayman, and Mosli, Mahmoud

Abstract

Background and Aim: The hepatitis C virus (HCV) is considered a global health challenge that requires urgent interventions for prevention and control. In this study, we aimed to evaluate the effectiveness of direct-acting antiviral agents (DAAs) for HCV-infected patients in the Kingdom of Saudi Arabia (KSA). Patients and Methods: In this retrospective cohort study, we ascertained data of patients treated with DAA-based regimens for chronic HCV in the private health-care sector hospitals of KSA between April 2015 and December 2017. Data regarding presence or absence of liver cirrhosis, virus genotype, quantitative HCV RNA test, fibrosis stage, and history of liver disease were included. The primary end point of the study was the overall cure rate, defined as the number of patients achieving sustained viral response (SVR) rate at least 12 weeks following completion of treatment, divided by the total number of patients included in the study. Results: A total of 262 patients fulfilled the study inclusion criteria. Adult patients were enrolled, of which 114 (44%) were females and 148 (56%) were males. About 105 of the patients (40%) were cirrhotic and 156 were treatment-naïve patients (60%), 84 patients were interferon (INF) experienced, and 22 patients had previously received new DAAs but failed to achieve SVR. The majority of patients received ledipasvir–sofosbuvir±RBV (57%) with SVR rate of approximately 97%. Conclusions: Our local real-world data indicate an overall HCV cure rate of 97% following treatment with DDA’s when prescribed in the private sector. This estimate is acquiescence with previously reported global cure rates.

Published
2020
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15. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Author

Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Banka, Siddharth, Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Elmslie, Frances, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Josifova, Dragana, Konstantino, Monica, Leach, Meganne E., Mak, Bryan, McCormick, David, McGee, Elisabeth, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Ajith Kumar, V.K., Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., and Lakhani, Saquib A.

Abstract

We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor–like domains 1 (CRELD1) gene variants.

Published
2024
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16. Pleural complications in patients with renal cell carcinoma undergoing percutaneous cryoablation: A retrospective analysis of its incidence and risk factors

Author

Khatim, Ibrahim, Albaba, Isam, Judson, Marc A, Hu, Kurt, Ali, Sana, Singh, Harpreet, Syed, Khezar, Koo, Moses, Yung, Timothy, Feustel, Paul, Patel, Ramkrishna, Siskin, Gary, and Chopra, Amit

Abstract

Observations from our clinical practice indicate a notable occurrence of pleural complications post-percutaneous renal cryoablation (PRC).

Published
2024
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17. Teacher Learning during Transition from Pre-service to Novice EFL Teacher: A Longitudinal Case Study.

Author

Bulut Albaba, Melike

Subjects
TEACHER education, LANGUAGE teachers, COGNITIVE dissonance, FOREIGN language education, ENGLISH literature education
Abstract

Copyright of Novitas-ROYAL is the property of Novitas Royal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2017

18. Long-term outcome of first 300 implanted Absorb bioresorbable vascular scaffolds in an all-comers Middle East population

Author

Al Nooryani, Arif, Elabbassi, Wael N., AlBaba, Bassam, Kerfes, Jalal A., Abudaqa, Loai M., Bhatia, Amit, Abdelrahman, Nagwa A., Boskovic, Nikola, and Beleslin, Branko

Abstract

Objectives To evaluate long-term clinical outcomes of the Absorb bioresorbable vascular scaffold (BVS) system (Abbott Vascular) in an all-comers Middle East population.Methods This prospective registry study included an initial set of patients with coronary lesions treated using Absorb BVS. Patients were followed for target vessel failure (TVF) including cardiac death, target vessel myocardial infarction (MI), and target lesion revascularization.Results A total of 217 patients (age, 55 ± 11 years; male, 169) with 300 treated lesions were included (median follow-up, 36 months [range, 26–41 months]; complete follow-up, 201 patients). Diabetes mellitus and acute coronary syndrome were present in 50% and 57% of patients, respectively. TVF rate was 32/201 (15.9%), including cardiac death in 10 (5%), target vessel MI in 13 (6.5%), and target lesion revascularization in 22 patients (10.9%). Definite or probable device thrombosis occurred in 11/201 patients (5.5%). TVF was associated with heart failure, worse ejection fraction, multi-vessel BVS, multi BVS in lesion, and total BVS length >50 mm.Conclusions Long-term outcome following Absorb BVS implantation in a population with high prevalence of high-risk and complex patients is acceptable, but heart failure, worse ejection fraction, and multi-vessel or long BVS implantation were associated with worse outcomes.

Published
2019
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20. Efficacy of glycine powder air-polishing combined with scaling and root planing in the treatment of periodontitis and halitosis: A randomised clinical study

Author

Caygur, Ayse, Albaba, Mohammed R., Berberoglu, Atilla, and Yilmaz, Hasan Guney

Abstract

Introduction This study was performed to evaluate the clinical efficacy of using the Perio-Flow device (Electro Medical Systems, Nyon, Switzerland) adjunctively with mechanical instrumentation on periodontal parameters and halitosis.Materials and Methods Sixty patients who presented with a 4- to 6-mm probing pocket depth were recruited for the study. Patients were randomly assigned to scaling and root planing (SRP) or SRP + glycine powder air-polishing (GPAP). For both groups, the plaque index, gingival index, pocket depth, bleeding on probing, and clinical attachment level scores were recorded at baseline and 1 month. Volatile sulphur compounds (VSCs) were measured by a Halimeter (Interscan Corp., Chatsworth, CA, USA) at baseline, immediately after treatment, and at 7, 14, and 30 days.Results Both groups showed significantly lower plaque index, gingival index, pocket depth, bleeding on probing, and clinical attachment level gain scores at 1 month than at baseline. No significant differences were found between the groups at any time point. The VSCs were significantly different at 1 month compared with baseline in both groups. However, the intergroup comparisons of VSCs were not statistically significant at any time point.Conclusion Within the limits of this study, SRP is effective for treatment of periodontitis and halitosis. However, using GPAP adjunctively with mechanical instrumentation has no beneficial effects on halitosis or periodontal parameters.

Published
2017
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21. Diagnosis of non-expandable lung using thoracic ultrasound.

Author

Khatim, Ibrahim, Albaba, Isam, Hu, Kurt, Huggins, Terrill, and Chopra, Amit

Abstract

Non-expandable lung (NEL) commonly occurs secondary to chronic pleural processes, including pleural effusions, endobronchial obstruction, atelectasis, or chronic pleural inflammatory processes. Patients with NEL frequently undergo unnecessary procedures (e.g., thoracentesis), resulting in pneumothorax and discomfort (usually chest pain). Identifying a chronic process and likely development of NEL may prevent this. Diagnostic modalities currently used in practice include pleural manometry and ultrasonography. This case report demonstrates that blunting of transmitted cardiac impulse on M-Mode of ultrasonography predicts the presence of NEL. [ABSTRACT FROM AUTHOR]

Published
2022
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22. Diagnosing aortic dissection using point of care ultrasound.

Author

Gunjan, Rana, Albaba, Isam, Chopra, Amit, and Mehta, Swati

Abstract

Aortic Dissection is a life-threatening condition that requires prompt diagnosis and management. Patients may have atypical presentations and 4-6.4% of aortic dissections are painless. The diagnosis is usually established by either computed tomography angiography, magnetic resonance angiography or transesophageal echocardiography. Point of care of ultrasonography (POCUS) is a rapid method of diagnosis that is underutilized in current clinical practice. This case report highlights the important role of POCUS to obtain a timely diagnosis. [ABSTRACT FROM AUTHOR]

Published
2022
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23. A case of severe cancer-related pulmonary hypertension; An unexpected resolution.

Author

Albaba, Isam and Medarov, Boris I.

Abstract

Pulmonary hypertension (PH) in cancer patients can be caused by several mechanisms. It can be a direct cancer effect through pulmonary tumor thrombotic microangiopathy, pulmonary tumor emboli, extrinsic compression, intravascular tumors, or a secondary consequence of therapy, including chemotherapy agents, radiation, and stem cell transplantation. We present the first case of complete resolution of cancer-related PH. [ABSTRACT FROM AUTHOR]

Published
2022
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25. Novel Interpretation of Molecular Diagnosis of Congenital Toxoplasmosis According to Gestational Age at the Time of Maternal Infection

Author

Sterkers, Yvon, Pratlong, Francine, Albaba, Sahar, Loubersac, Julie, Picot, Marie-Christine, Pretet, Vanessa, Issert, Eric, Boulot, Pierre, and Bastien, Patrick

Abstract

ABSTRACTFrom a prospective cohort of 344 women who seroconverted for toxoplasmosis during pregnancy, 344 amniotic fluid, 264 placenta, and 216 cord blood samples were tested for diagnosis of congenital toxoplasmosis using the same PCR assay. The sensitivity and negative predictive value of the PCR assay using amniotic fluid were 86.3% and 97.2%, respectively, and both specificity and positive predictive value were 100%. Using placenta and cord blood, sensitivities were 79.5% and 21.2%, and specificities were 92% and 100%, respectively. In addition, the calculation of pretest and posttest probabilities and the use of logistic regression allowed us to obtain curves that give a dynamic interpretation of the risk of congenital toxoplasmosis according to gestational age at maternal infection, as represented by the three sample types (amniotic fluid, placenta, and cord blood). Two examples are cited here: for a maternal infection at 25 weeks of amenorrhea, a negative result of prenatal diagnosis allowed estimation of the probability of congenital toxoplasmosis at 5% instead of an a priori(pretest) risk estimate of 33%. For an infection at 10 weeks of amenorrhea associated with a pretest congenital toxoplasmosis risk of 7%, a positive PCR result using placenta at birth yields a risk increase to 43%, while a negative result damps down the risk to 0.02%. Thus, with a molecular diagnosis performing at a high level, and in spite of the persistence of false negatives, posttest risk curves using both negative and positive results prove highly informative, allowing a better assessment of the actual risk of congenital toxoplasmosis and finally an improved decision guide to treatment.

Published
2012
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27. Automatic quality assessment of capacitively-coupled bioimpedance signals for respiratory activity monitoring.

Author

Albaba, Adnan, Castro, Ivan, Borzée, Pascal, Buyse, Bertien, Testelmans, Dries, Varon, Carolina, Van Huffel, Sabine, and Torfs, Tom

Subjects
VENTILATION monitoring, FEATURE selection, ALGORITHMS, BIOMEDICAL engineering, SLEEP apnea syndromes, NAIVE Bayes classification
Abstract

• Non-contact monitoring of capacitively-coupled bioimpedance (ccBioZ) comes at the cost of signal quality. • An automated ML-based approach to assess the quality of ccBioZ signals is demonstrated, tested, and statistically evaluated. • A multi-stage testing pipeline, composed of three testing phases, is applied for statistically evaluating the classifiers. • Three large datasets of ccBioZ acquired with varying characteristics were utilized. • High performance is reported with balanced accuracy up to 94 % using a Fine Gaussian SVM model with 13 features out of 52. The objective of this work is to design an algorithm capable of classifying segments of capacitively-coupled bioimpedance (ccBioZ) for respiratory activity monitoring based on their signal quality. Such algorithm is an important building block as a pre-processing step to increase the confidence of extracted information such as respiration rate (RR). Long over-night ccBioZ recordings acquired from 12 subjects, are used for training and testing the proposed algorithm. To create a ground-truth labelling, the annotation is done manually by an experienced biomedical engineer. A total number of 52 features are extracted to capture information related to the quality of the ccBioZ segments. Five subsets of features are selected based on five different feature selection methods and tested against a full set of features to find the best trade-off between the performance of the classifier and the number of features. For classification, 19 classifiers are trained, cross-validated, and tested in three different datasets, acquired from 12 subjects: DS1 (training and validation data from 11 patients with suspected sleep apnea), DS2 (containing apneic epochs acquired from the same 11 patients), and DS3 (testing data acquired from one healthy subject). The balanced accuracy is used along with other statistical evaluation metrics. For each test set, the best results of the quantitative evaluation came as following; DS1: Accuracy = 0.91, Sensitivity = 0.90, Specificity = 0.95, and Balanced Accuracy = 0.91. DS2: Accuracy = 0.87, Sensitivity = 0.88, Specificity = 0.87, and Balanced Accuracy = 0.88. DS3: Accuracy = 0.91, Sensitivity = 0.98, Specificity = 0.91, and Balanced Accuracy = 0.94. The results of the testing phases prove the reliability and robustness of the presented approach. [ABSTRACT FROM AUTHOR]

Published
2021
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