9 research outputs found
Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease
No full textCongenital heart defects (CHDs) are the most common types of birth defects, and global incidence of CHDs is on the rise. Despite the prevalence of CHDs, the genetic determinants of the defects are still in the process of being identified. Herein, we report a consanguineous Saudi family with three CHD affected daughters. We used whole exome sequencing (WES) to investigate the genetic cause of CHDs in the affected daughters. We found that all affected individuals were homozygous for a novel splice-altering variant (NM_001330069.1: c.265-1G>T) of PRKD1, which encodes a calcium/calmodulin-dependent protein kinase in the heart. The homozygous variant was found in the affected patients with Pulmonary Stenosis (PS), Truncus Arteriosis (TA), and Atrial Septal Defect (ASD). Based on the family’s pedigree, the variant acts in an autosomal recessive manner, which makes it the second autosomal recessive variant of PRKD1 to be identified with a link to CHDs, while all other previously described variants act dominantly. Interestingly, the father of the affected daughters was also homozygous for the variant, though he was asymptomatic of CHDs himself. Since both of his sisters had CHDs as well, this raises the possibility that the novel PRKD1 variant may undergo autosomal recessive inheritance mode with gender limitation. This finding confirms that CHD can be associated with both dominant and recessive mutations of the PRKD1 gene, and it provides a new insight to genotype–phenotype association between PRKD1 and CHDs. To our knowledge, this is the first report of this specific PRKD1 mutation associated with CHDs
Corrosion Behavior of Aluminium-Coated Cans
No full textHundreds of billions of aluminium-based cans are manufactured and used every year worldwide including those containing soft drinks. This study investigates and evaluates the performance and quality of two well-known energy and soft drinks brands, Green Cola and Red Bull. Recent health hazards and concerns have been associated with aluminium leakage and bisphenol A (BPA) dissociation from the can’s internal protective coating. The cans were examined under four conditions, including coated and uncoated samples, the soft drink’s main solution, and 0.1 M acetic acid solution. Electrochemical measurements such as potentiodynamic polarization and impedance spectroscopy (EIS), element analyses using inductively coupled plasma optical emission spectrometry (ICP-OES), and energy dispersive X-ray spectroscopy (EDS) were performed. In addition, sample characterization by scanning electron microscopy (SEM) and X-ray diffraction spectroscopy (XRD) were employed to comprehensively study and analyze the effect of corrosion on the samples. Even though the internal coating provided superior corrosion protection concerning main or acetic acid solutions, it failed to prevent aluminium from dissolving in the electrolyte. Green Cola’s primary solution appears to be extremely corrosive, as the corrosion rate increased by approximately 333% relative to the acetic acid solution. Uncoated samples resulted in increases in the percentage of oxygen, the appearance of more corrosion spots, and decreases in crystallinity. The ICP-OES test detected dangerous levels of aluminium in the Green Cola solution, which increased significantly after increasing the conductivity of the solution
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
No full textVariability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types. © 2021 The Author(s
Global variation in anastomosis and end colostomy formation following left-sided colorectal resection
No full textnone3427noBackground: End colostomy rates following colorectal resection vary across institutions in high-income settings, being influenced by patient, disease, surgeon and system factors. This study aimed to assess global variation in end colostomy rates after left-sided colorectal resection. Methods: This study comprised an analysis of GlobalSurg-1 and-2 international, prospective, observational cohort studies (2014, 2016), including consecutive adult patients undergoing elective or emergency left-sided colorectal resection within discrete 2-week windows. Countries were grouped into high-, middle-and low-income tertiles according to the United Nations Human Development Index (HDI). Factors associated with colostomy formation versus primary anastomosis were explored using a multilevel, multivariable logistic regression model. Results: In total, 1635 patients from 242 hospitals in 57 countries undergoing left-sided colorectal resection were included: 113 (6·9 per cent) from low-HDI, 254 (15·5 per cent) from middle-HDI and 1268 (77·6 percent) from high-HDI countries. There was a higher proportion of patients with perforated disease (57·5, 40·9 and 35·4 per cent; P < 0·001) and subsequent use of end colostomy (52·2, 24·8 and 18·9 per cent; P < 0·001) in low-compared with middle-and high-HDI settings. The association with colostomy use in low-HDI settings persisted (odds ratio (OR) 3·20, 95 per cent c.i. 1·35 to 7·57; P = 0·008) after risk adjustment for malignant disease (OR 2·34, 1·65 to 3·32; P < 0·001), emergency surgery (OR 4·08, 2·73 to 6·10; P < 0·001), time to operation at least 48 h (OR 1·99, 1·28 to 3·09; P = 0·002) and disease perforation (OR 4·00, 2·81 to 5·69; P < 0·001). Conclusion: Global differences existed in the proportion of patients receiving end stomas after left-sided colorectal resection based on income, which went beyond case mix alone.noneGlasbey, James C; Adisa, Adewale O; Costas‐Chavarri, Ainhoa; Qureshi, Ahmad U; Allen‐Ingabire, Jean C; Salem, Hosni Khairy; Kojo, Anyomih Theophilus Teddy; Tabiri, Stephen; Nepogodiev, Dmitri; Lilford, Richard J; Harrison, Ewen M; Pinkney, Thomas D; Smart, Neil; Bhangu, Aneel; Verjee, Azmina; Runigamugabo, Emmy; Glasbey, James; Bhangu, Aneel; Ademuyiwa, Adesoji O; Adisa, Adewale O; Aguilera, Maria Lorena; Altamini, Afnan; Alexander, Philip; Al‐Saqqa, Sara W; Borda‐Luque, Giuliano; Cornick, Jen; Costas‐Chavarri, Ainhoa; Drake, Thomas M; Fergusson, Stuart J; Fitzgerald, J Edward; Glasbey, James; Ingabire, J.C Allen; Ismaïl, Lawani; Jaffry, Zahra; Salem, Hosni Khairy; Khatri, Chetan; Kirby, Andrew; Kojo, Anyomih Theophilus Teddy; Lapitan, Marie Carmela; Lilford, Richard; Mihaljevic, Andre L; Mohan, Midhun; Morton, Dion; Mutabazi, Alphonse Zeta; Nepogodiev, Dmitri; Ntirenganya, Faustin; Ots, Riinu; Pata, Francesco; Pinkney, Thomas; Poškus, Tomas; Qureshi, Ahmad Uzair; Medina, Antonio Ramos‐De; Rayne, Sarah; Recinos, Gustavo; Søreide, Kjetil; Shaw, Catherine A; Shu, Sebastian; Spence, Richard; Smart, Neil; Tabiri, Stephen; Lilford, Richard; Morton, Dion; Harrison, Ewen M; Bhangu, Aneel; Khatri, Chetan; Gobin, Neel; Freitas, Ana Vega; Hall, Nigel; Kim, Sung‐Hee; Negida, Ahmed; Khairy, Hosni; Jaffry, Zahra; Chapman, Stephen J; Arnaud, Alexis P; Tabiri, Stephen; Recinos, Gustavo; Manipal, Cutting Edge; Mohan, Midhun; Amandito, Radhian; Shawki, Marwan; Hanrahan, Michael; Pata, Francesco; Zilinskas, Justas; Roslani, April Camilla; Goh, Cheng Chun; Ademuyiwa, Adesoji O; Irwin, Gareth; Shu, Sebastian; Luque, Laura; Shiwani, Hunain; Altamimi, Afnan; Alsaggaf, Mohammed Ubaid; Fergusson, Stuart J; Spence, Richard; Rayne, Sarah; Jeyakumar, Jenifa; Cengiz, Yucel; Raptis, Dmitri A; Glasbey, James C; Modolo, Maria Marta; Iyer, Dushyant; King, Sebastian; Arthur, Tom; Nahar, Sayeda Nazmum; Waterman, Ade; Ismaïl, Lawani; Walsh, Michael; Agarwal, Arnav; Zani, Augusto; Firdouse, Mohammed; Rouse, Tyler; Liu, Qinyang; Correa, Juan Camilo; Salem, Hosni Khairy; Talving, Peep; Worku, Mengistu; Arnaud, Alexis; Tabiri, Stephen; Kalles, Vassilis; Aguilera, Maria Lorena; Recinos, Gustavo; Kumar, Basant; Kumar, Sunil; Amandito, Radhian; Quek, Roy; Pata, Francesco; Ansaloni, Luca; Altibi, Ahmed; Venskutonis, Donatas; Zilinskas, Justas; Poskus, Tomas; Whitaker, John; Msosa, Vanessa; Tew, Yong Yong; Farrugia, Alexia; Borg, Elaine; Medina, Antonio Ramos‐De; Bentounsi, Zineb; Ademuyiwa, Adesoji O; Søreide, Kjetil; Gala, Tanzeela; Al‐Slaibi, Ibrahim; Tahboub, Haya; Alser, Osaid H.; Romani, Diego; Shu, Sebestian; Major, Piotr; Mironescu, Aurel; Bratu, Matei; Kourdouli, Amar; Ndajiwo, Aliyu; Altwijri, Abdulaziz; Alsaggaf, Mohammed Ubaid; Gudal, Ahmad; Jubran, Al Faifi; Seisay, Sam; Lieske, Bettina; Rayne, Sarah; Spence, Richard; Ortega, Irene; Jeyakumar, Jenifa; Senanayake, Kithsiri J.; Abdulbagi, Omar; Cengiz, Yucel; Raptis, Dmitri; Altinel, Yuksel; Kong, Chia; Teasdale, Ella; Irwin, Gareth; Stoddart, Michael; Kabariti, Rakan; Suresh, Sukrit; Gash, Katherine; Narayanan, Ragavan; Maimbo, Mayaba; Fermani, Claudio; Balmaceda, Ruben; Modolo, Maria Marta; Macdermid, Ewan; Gobin, Neel; Chenn, Roxanne; Yong, Cheryl Ou; Edye, Michael; Jarmin, Martin; D'amours, Scott K; Iyer, Dushyant; Youssef, Daniel; Phillips, Nicholas; Brown, Jason; George, Robert; Koh, Cherry; Warren, Oliver; Hanley, Isaac; Dickfos, Marilla; Nawara, Clemens; Öfner, Dietmar; Primavesi, Florian; Mitul, Ashrarur Rahman; Mahmud, Khalid; Hussain, Margub; Hakim, Hafiz; Kumar, Tapan; Oosterkamp, Antje; Assouto, Pamphile A; Lawani, Ismail; Souaibou, Yacoubou Imorou; Tun, Aung Kyaw; Chong, Chean Leung; Devadasar, Giridhar H; Chong, Chean Leung; Qadir, Muhammad Rashid Minhas; Aung, Kyaw Phyo; Yeo, Lee Shi; Chong, Chean Leung; Castillo, Vanessa Dina Palomino; Munhoz, Monique Moron; Moreira, Gisele; De Castro Segundo, Luiz Carlos Barros; Ferreira, Salim Anderson Khouri; Careta, Maíra Cassa; Kim, Stella Binna; De Sousa, Alexandre Venancio; Cury, Alyne Daltri Lazzarini; Miguel, Gustavo Peixoto Soares; De Freitas, Ana Vega Carreiro; Guasti, Barbara Pereira Silvestre Julia; Vianna, Pinto; Felipe, Carolina Oliveira; Laufer, Luis Alberto Valente; Altoe, Fernanda; Da Silva, Luana Ayres; Pimenta, Marina Luiza; Giuriato, Thiago Fernandes; Morais, Paulo Alves Bezerra; Araujo, Jessica Souza Luiz Rafael; Menegussi, Juliana; Leal, Marisa; Lima, Caio Vinícius Barroso; Tatagiba, Luiza Sarmento; Leal, Antônio; Santos, Diogo Vinicius; Fraga, Gustavo Pereira; Simoes, Romeo Lages; Stock, Simon; Nigo, Samuel; Kabba, Juana; Ngwa, Tagang Ebogo; Brown, James; King, Sebastian; Zani, Augusto; Azzie, Georges; Firdouse, Mohammed; Kushwaha, Sameer; Agarwal, Arnav; Bailey, Karen; Cameron, Brian; Livingston, Michael; Horobjowsky, Alexandre; Deckelbaum, Dan L; Razek, Tarek; Marinkovic, Boris; Grasset, Eugenio; D'aguzan, Nicole; Grasset, Eugenio; Jimenez, Julio; Macchiavello, Roberto; Zhang, Zhongtao; Guo, Wei; Oh, Junyeong; Zheng, Fei; Montes, Irene; Sierra, Sebastian; Mendez, Manuela; Villegas, Maria Isabel; Arango, Maria Clara Mendoza; Mendoza, Ivan; Naranjo Aristizã¡bal, Fred Alexander; Botero, Jaime Andres Montoya; Riaza, Victor Manuel Quintero; Restrepo, Jakeline; Morales, Carlos; Arango, Maria Clara Mendoza; Cruz, Herman; Munera, Alejandro; Arango, Maria Clara Mendoza; Karlo, Robert; Domini, Edgar; Mihanovic, Jakov; Radic, Mihael; Zamarin, Kresimir; Pezelj, Nikica; Hache‐Marliere, Manuel; Lemaire, Sylvia Batista; Rivas, Ruben; Khyrallh, Ahmed; Hassan, Ahamed; Shimy, Gamal; Baky Fahmy, Mohamed A; Nabawi, Ayman; Elfil, Mohamed; Ghoneem, Mohamed; Gohar, Muhammad El‐Saied Ahmad Muhammad; Asal, Mohamed; Abdelkader, Mostafa; Gomah, Mahmoud; Rashwan, Hayssam; Karkeet, Mohamed; Gomaa, Ahmed; Hasan, Amr; Elgebaly, Ahmed; Saleh, Omar; Fattah, Ahmad Abdel; Gouda, Abdullah; Elshafay, Abd Elrahman; Gharib, Abdalla; Menshawy, Ahmed; Hanafy, Mohammed; Al‐Mallah, Abdullah; Abdulgawad, Mahmoud; Baheeg, Mohamad; Alhendy, Mohammed; AbdelFattah, Ibrahim; Kenibar, Abdalla; Osman, Omar; Gemeah, Mostafa; Mohammed, Ahmed; Adel, Abdalrahman; Gharib, Abdalla; Mohammed, Abdelrahman; Sayed, Abdelrahman; Abozaid, Mohamed; Kotb, Ahmed Hafez El‐Badri; Ata, Ali Amin Ahmed; Nasr, Mohammed; Alkammash, Abdelrahman; Saeed, Mohammed; El Hamid, Nader Abd; Attia, Attia Mohamed; El Galeel, Ahmed Abd; Elbanby, Eslam; El‐Dien, Khalid Salah; Hantour, Usama; Alahmady, Omar; Mansour, Billal; Elkorashy, Amr Muhammad; Taha, Emad Mohamed Saeed; Lasheen, Kholod Tarek; Elkolaly, Salma Said; Abdel‐Wahab, Nehal Yosri Elsayed; Abozyed, Mahmoud Ahmed Fathi; Adel, Ahmed; Saeed, Ahmed Moustafa; El Sayed, Gehad Samir; Youssif, Jehad Hassan; Ahmed, Soliman Magdy; El‐Shahat, Nermeen Soubhy; Khedr, Abd El‐Rahman Hegazy; Elsebaaye, Abdelrhman Osama; Elzayat, Mohamed; Abdelraheim, Mohamed; Elzayat, Ibrahim; Warda, Mahmoud; El Deen, Khaled Naser; Elnemr, Abdelrhman Essam; Salah, Omar; Abbas, Mohamed; Rashad, Mona; Elzayyat, Ibrahim; Hemeda, Dalia; Tawfik, Gehad; Salama, Mai; Khaled, Hazem; Seisa, Mohamed; Elshaer, Kareem; Hussein, Abdelfatah; Elkhadrawi, Mahmoud; Afifi, Ahmed Mohamed; Ebrahim, Osama Saadeldeen; Metwally, Mahmoud Mohamed; Elmelegy, Rowida; Elsawahly, Diaa Moustafa Elbendary; Safa, Hisham; Nofal, Eman; Elbermawy, Mohamed; Ghazy, Ahmed Abdelmotaleb; Samih, Hisham; Abdelgelil, Asmaa; Abdelghany, Sarah; El Kholy, Ahmed; Aboraya, Metwally; Elkady, Fatma; Salma, Mahmoud; Samy, Sarah; Fakher, Reem; Aboarab, Aya; Samir, Ahmed; Sakr, Ahmed; Haroun, Abdelrahman; Al‐Aarag, Asmaa Abdel‐Rahman; Elkholy, Ahmed; Elshanwany, Sally; Ghanem, Esraa; Tammam, Ahmed; Hammad, Ali Mohamed; El Shoura, Yousra; El Ashal, Gehad; Khairy, Hosni; Antar, Sarah; Mehrez, Sara; Abdelshafy, Mahmoud; Hamad, Maha Gamal Mohamad; Hosh, Mona; Abdallah, Emad; Magdy, Basma; Alzayat, Thuraya; Gamaly, Elsayed; Elfeki, Hossam; Abouzahra, Amany; Elsheikh, Shereen; Elgendy, Fatimah I; El‐Salam, Fathia Abd; Seifelnasr, Osama; Ammar, Mohamed; Eysa, Athar; Sadek, Aliaa; Toeema, Aliaa Gamal; Nasr, Aly; Abuseif, Mohamed; Zidan, Hagar; Barakat, Sara Abd Elmageed; Elsayed, Nadin; Elrasoul, Yasmin Abd; Elkelany, Ahmed; Ammar, Mohamed Sabry; Mustafa, Mennat‐Allah; Hegazy, Yasmin; Etman, Mohamed; Saad, Samar; Alrahawy, Mahmoud; Raslan, Ahmed; Morsi, Mahmoud; Rslan, Ahmed; Sabry, Ahmed; Elwakil, Hager; Shaker, Heba; Zidan, Hagar; Abd‐Elrasoul, Yasmin; Elkelany, Ahmed; El‐Kashef, Hussein; Shaalan, Mohamed; Tarek, Areej; Elwan, Ayman; Nayel, Ahmed Ragab; Seif, Mostafa; Elwan, Ayman; Emadeldin, Doaa; Ghonaim, Mohamed Ali; Almallah, Ahmad; Fouad, Ahmed; Sayma, Eman Adel; Elbatahgy, Ahmad; El‐Ma'doul, Angham Solaiman; Mosad, Ahmed; Tolba, Hager; Elsorogy, Diaa Eldin Abdelazeem Amin; Mostafa, Hassan Ali; Omar, Amira Atef; El Hameed, Ola Sherief Abd; Lasheen, Ahmed; El Salam, Yasser Abd; Morsi, Ashraf; Ismail, Mohammed; El‐badawy, Hager Ahmed; Amer, Mohamed A; Elkelany, Ahmed; Elkelany, Ahmed; El‐Hamouly, Ahmed Sabry; Attallah, Noura A.; Mosalum, Omnia; Afandy, Ahmed; Mokhtar, Ahmed; Abouelnasr, Alaa; Ayad, Sara; Shaker, Ramdan; Sakr, Rokia; Shaker, Ramadan; Amreia, Mahmoud; Elsobky, Soaad; Mustafa, Mohamed; El Magd, Ahmed Abo; Marey, Abeer; Hafez, Amr Tarek; Zalabia, Mohamed F; Mohamed, Mohamed Moamen; Fadel, Amr; Ahmed, Emad Ali; Ali, Ahmad; Alwafai, Mohammad Ghassan; Dwydar, Abdullah; Kharsa, Sara; Mamdouh, Ehab; El‐Sheemy, Hatem; AlYoussef, Ibrahim; Aly, Abouelatta Khairy; Aldalaq, Ahmad; Alnawam, Ehab; Alkhabbaz, Dalia; Saad, Mahmoud; Hussein, Shady; Elazayem, Ahmed Abo; Meshref, Ahmed; Elashmawy, Marwa; Mousa, Mohammed; Nashaat, Ahmad; Ghanem, Sara; Elsayed, Zaynab M; Elwaey, Aya; Elkadsh, Iman; Darweesh, Mariam; Mohameden, Ahmed; Hafez, Mennaallah; Badr, Ahmed; Badwy, Assmaa; El Slam, Mohamed Abd; Elazoul, Mohamed; Al‐Nahrawi, Safwat; Eldamaty, Lotfy; Nada, Fathee; Ameen, Mohamed; Hagar, Aya; Elsehimy, Mohamed; Aboraya, Mohammad; Dawoud, Hossam; El Mesery, Shorouk; El Gendy, Abeer; Abdelkareem, Ahmed; Marey, Ahmed Safwan; Allam, Mostafa; Shehata, Sherif; Abozeid, Khaled; Elshobary, Marwa; Fahiem, Ahmed; Sarsik, Sameh; Hashish, Amel; Zidan, Mohamed; Hashish, Mohamed; Aql, Shaimaa; Elhendawy, Abdelaziz Osman Abdelaziz; Husseini, Mohamed; Kasem, Esraa; Gheith, Ahmed; Elfouly, Yasmin; Soliman, Ahmed Ragab; Ibrahim, Yasmein; Elfouly, Nesma; Fawzy, Ahmed; Hassan, Ahmed; Rashid, Mohammad; Elsherbiny, Abdallah Salah; Sieda, Basem; Badwi, Nermin M; Mohammed, Mohammed Mustafa Hassan; Mohamed, Osama; Habeeb, Mohammad Abdulkhalek; Worku, Mengistu; Starr, Nichole; Desta, Semay; Wondimu, Sahlu; Abebe, Nebyou Seyoum; Thomas, Efeson; Asele, Frehun Ayele; Dabessa, Daniel; Abebe, Nebiyou Seyoum; Zerihun, Abebe Bekele; Mentula, Panu; Leppäniemi, Ari; Sallinen, Ville; Scalabre, Aurelien; Frade, Fernanda; Irtan, Sabine; Graffeille, Vivien; Gaignard, Elodie; Alimi, Quentin; Alimi, Quentin; Graffieille, Vivien; Gaignard, Elodie; Abbo, Olivier; Mouttalib, Sofia; Bouali, Ourdia; Hervieux, Erik; Aigrain, Yves; Botto, Nathalie; Faure, Alice; Fievet, Lucile; Panait, Nicoleta; Eyssartier, Emilie; Schmitt, Francoise; Podevin, Guillaume; Parent, Valentine; Martin, Amandine; Arnaud, Alexis Pierre; Muller, Cecile; Bonnard, Arnaud; Peycelon, Matthieu; Abantanga, Francis; Boakye‐Yiadom, Kwaku; Bukari, Mohammed; Owusu, Frank; Awuku‐Asabre, Joseph; Tabiri, Stephen; Bray, Lemuel Davies; Lytras, Dimitrios; Psarianos, Kyriakos; Bamicha, Anastasia; Kefalidi, Eirini; Gemenetzis, Georgios; Dervenis, Christos; Gouvas, Nikolaos; Agalianos, Christos; Kontos, Michail; Kouraklis, Gregory; Karousos, Dimitrios; Germanos, Stylianos; Marinos, Constantinos; Anthoulakis, Christos; Nikoloudis, Nikolaos; Mitroudis, Nikolaos; Recinos, Gustavo; Estupinian, Sergio; Forno, Walter; Azmitia, José René Arévalo; Cabrera, Carla Cecilia Ramãrez; Guevara, Romeo; Aguilera, Maria; Mendez, Napoleon; Mendizabal, Cesar Augusto Azmitia; Ramazzini, Pablo; Urquizu, Mario Contreras; Tale, Fernando; Soley, Rafael; Barrios, Emanuel; Barrios, Emmanuel; Rodríguez, Daniel Estuardo Marroquín; Velásquez, Carlos Iván Pérez; Mérida, Sara María Contreras; Regalado, Francisco; Lopez, Mario; Siguantay, Miguel; Lam, Fong Yee; Szeto, Kylie Joan‐yi; Szeto, Charing Cheuk Ling; Li, Wing Sum; Li, Kieran Ka Kei; Leung, Man Fung; Mak, Tony; Ng, Simon; Prasad, SS; Kirishnan, Anand; Gyanchandani, Nidhi; Kumar, Bylapudi Seshu; Rangarajan, Muthukumaran; Bhat, Sriram; Sreedharan, Anjana; Kinnera, S.V.; Reddy, Yella; Venugopal, Caranj; Kumar, Sunil; Mittal, Abhishek; Nadkarni, Shravan; Lakshmi, Harish Neelamraju; Malik, Puneet; Limaye, Neel; Pai, Srinivas; Jain, Pratik; Khajanchi, Monty; Satoskar, Savni; Satoskar, Rajeev; Mahamood, Abid Bin; Sutanto, Eldaa Prisca Refianti; Soeselo, Daniel Ardian; Tedjaatmadja, Chintya; Rahmawati, Fitriana Nur; Amandito, Radhian; Mayasari, Maria; Al‐Hasani, Ruqaya Kadhim Mohammed Jawad; Al‐Hameedi, Hasan Ismael Ibraheem; Ibraheem, Hasan Ismael; Al‐Azraqi, Israa Abdullah Aziz; Sabeeh, Lubna; Kamil, Rahma; Shawki, Marwan; Telfah, Muwaffaq Mezeil; Rasendran, Amoudtha; Sheehan, Jacqueline; Kerley, Robert; Normile, Caoimhe; Gilbert, Richard William; Song, Jiheon; Dablouk, Mohamed; Mauro, Linnea; Dablouk, Mohammed Osman; Hanrahan, Michael; Kielty, Paul; Marks, Eleanor; Gosling, Simon; Mccarthy, Michelle; Rasendran, Amoudtha; Mirghani, Diya; Naqvi, Syed Altaf; Wong, Chee Siong; Chung, Siyi; D'cruz, Reuban; Cahill, Ronan; Gosling, Simon George; Mccarthy, Michelle; Rasendran, Amoudtha; Fahy, Ciara; Song, Jiheon; Hanrahan, Michael; Cadogan, Diana Duarte; Powell, Anna; Gilbert, Richard; Clifford, Caroline; Normile, Caoimhe; Driscoll, Aoife; Paul, Stassen; Lee, Chris; Bowe, Ross; Hutch, William; Hanrahan, Michael; Mohan, Helen; O'neill, Maeve; Mealy, Kenneth; Danelli, Piergiorgio; Bondurri, Andrea; Maffioli, Anna; Pasini, Mario; Pata, Giacomo; Roncali, Stefano; Silvani, Paolo; Carlucci, Michele; Faccincani, Roberto; Bonavina, Luigi; Macchitella, Yuri; Ceriani, Chiara; Tugnoli, Gregorio; Di Saverio, Salomone; Khattab, Khaled; Paludi, Miguel Angel; Pata, Domenica; Cloro, Luigi Maria; Allegri, Andrea; Ansaloni, Luca; Coccolini, Federico; Veronese, Ezio; Bortolasi, Luca; Hasheminia, Alireza; Nastri, Giacomo; Canto, Massimiliano Dal; Cucumazzo, Stefano; Pata, Francesco; Benevento, Angelo; Tessera, Gaetano; Grandinetti, Pier Paolo; Maniscalco, Alessio; Lamanna, Giovanni Luca; Turati, Luca; Sgroi, Giovanni; Rausa, Emanuele; Villa, Roberta; Monteleone, Michela; Merlini, David; Coccolini, Federico; Ansaloni, Luca; Allegri, Andrea; Grassi, Veronica; Cirocchi, Roberto; Cacurri, Alban; Waleed, Hamza; Diab, Ahmed; Elzowawi, Fathi; Jokubauskas, Mantas; Varkalys, Karolis; Venskutonis, Donatas; Pranevicius, Robertas; Ambrozeviciute, Viktorija; Juciute, Simona; Skardžiukaitė, Austė; Venskutonis, Donatas; Bradulskis, Saulius; Urbanavicius, Linas; Austraite, Aiste; Riauka, Romualdas; Zilinskas, Justas; Dambrauskas, Zilvinas; Karumnas, Paulius; Urniezius, Zigmantas; Zilinskiene, Reda; Rudzenskaite, Anele; Usaityte, Ausrine; Montrimaite, Margarita; Kaselis, Nerijus; Strazdas, Andrius; Jokubonis, Kristijonas; Maceviciute, Kornelija; Beisa, Virgilijus; Poskus, Tomas; Strupas, Kestutis; Laugzemys, Erikas; Kolosov, Andrej; Jotautas, Valdemaras; Rakita, Ignas; Mikalauskas, Saulius; Kazanavicius, Darius; Rackauskas, Rokas; Strupas, Kestutis; Poskus, Tomas; Beisa, Virgilijus; Rakauskas, Ritauras; Preckailaite, Egle; Coomber, Ross; Johnson, Kenneth; Nowers, Jennifer; Periasammy, Dineshwary; Salleh, Afizah; Das, Andre; Tze, Reuben Goh Ern; Kumar, Milaksh Nirumal; Abdullah, Nik Azim Nik; Kosai, Nik Ritza; Taher, Mustafa; Rajan, Reynu; Chong, Hoong Yin; Roslani, April Camilla; Goh, Cheng Chun; Agius, Marija; Borg, Elaine; Bezzina, Maureen; Bugeja, Roberta; Vella‐Baldacchino, Martinique; Spina, Andrew; Psaila, Josephine; Francois‐Coridon, Helene; Tolg, Cecilia; Colombani, Jean‐Francois; Diaz‐Zorrilla, Carmina; De La Medina, Antonio Ramos‐; Gonzalez, Samantha Corro‐Diaz; Jacobe, Mário; Mapasse, Domingos; Snyder, Elizabeth; Oumer, Ramadan; Osman, Mohammed; Mohammad, Aminu; Anyanwu, Lofty‐John; Sheshe, Abdulrahman; Adesina, Alaba; Faturoti, Olubukola; Taiwo, Ogechukwu; Ibrahim, Muhammad Habib; Nasir, Abdulrasheed A; Suleiman, Siyaka Itopa; Adeniyi, Adewale; Adesanya, Opeoluwa; Adebanjo, Ademola; Osuoji, Roland; Atobatele, Kazeem; Ogunyemi, Ayokunle; Williams, Omolara; Oludara, Mobolaji; Oshodi, Olabode; Ademuyiwa, Adesoji; Lawal, AbdulRazzaq Oluwagbemiga; Alakaloko, Felix; Elebute, Olumide; Osinowo, Adedapo; Bode, Christopher; Adesuyi, Abidemi; Tade, Adesoji; Adekoya, Adeleke; Nwokoro, Collins; Ayandipo, Omobolaji O; Lawal, Taiwo Akeem; Ajao, Akinlabi E; Ali, Samuel Sani; Odeyemi, Babatunde; Olori, Samson; Popoola, Ademola; Adeyeye, Ademola; Adeniran, James; Lossius, William J.; Havemann, Ingemar; Thorsen, Kenneth; Narvestad, Jon Kristian; Soreide, Kjetil; Wold, Trude Beate; Nymo, Linn; Elsiddig, Mohammed; Dar, Manzoor; Bhopal, Kamran Faisal; Iftikhar, Zainab; Furqan, Muhammad Mohsin; Nighat, Bakhtiar; Jawaid, Masood; Khalique, Abdul; Zil‐E‐Ali, Ahsan; Rashid, Anam; Dharamshi, Hasnain Abbas; Naqvi, Tahira; Faraz, Ahmad; Anwar, Abdul Wahid; Yaseen, Tahir Muhammad; Shamsi, Ghina Shamim; Shamsi, Ghina; Yaseen, Tahir; Anwer, Wahid; Decoud, Horacio Paredes; Aguilera, Omar; Alvarez, Ismael Isaac Zelada; Delgado, Juan Marcelo; Vega, Gustavo Miguel Machain; Lohse, Helmut Alfredo Segovia; Aguilar, Wendy Leslie Messa; Chiong, Jose Antonio Cabala; Bautista, Ana Cecilia Manchego; Huaman, Eduardo; Zegarra, Sergio; Camacho, Rony; Celis, Jose María Vergara; Pozo, Diego Alonso Romani; Hamasaki, José; Temoche, Edilberto; Herrera‐Matta, Jaime; Torres, Carla Pierina García; Barreda, Luis Miguel Alvarez; Ojeda, Ronald Renato Barrionuevo; Garaycochea, Octavio; Mollo, Melanie Castro; Delgado, Mitchelle Solange De Fã Tima Linare; Fujii, Francisco; Bautista, Ana Cecilia Manchego; Aguilar, Wendy Leslie Messa; Chiong, Jose Antonio Cabala; Durand, Susana Yrma Aranzabal; Basto, Carlos Alejandro Arroyo; Rojas, Nelson Manuel Urbina; Yip, Sebastian Bernardo Shu; Vergara, Ana Lucia Contreras; Moran, Andrea Echevarria Rosas; Luque, Giuliano Borda; Castro, Manuel Rodriguez; Jaramillo, Ramon Alvarado; Sila, George Manrique; Lopez, Crislee Elizabeth; De Leon, Mardelangel Zapata Ponze; Machaca, Massiell; Huaraya, Ronald Coasaca; Arenas, Andy; López, Crislee; Puma, Clara Milagros Herrera; Pino, Wilfredo; Hinojosa, Christian; De Leon, Melanie Zapata Ponze; Limache, Susan; Sila, George Manrrique; Rodriguez, Layza‐Alejandra Mercado; Melo, Renato; Costa‐Maia, Jose; Muralha, Nuno; Sauvat, Frederique; Dan, Ionasc; Hogea, Mircea; Eduard, Pandi; Bratu, Razvan‐Matei; Beuran, Mircea; Diaconescu, Ionut‐Bogdan; Martian, Bogdan‐Valeriu; Iordache, Florin‐Mihail; Vartic, Mihaela; Vida, Lucian Corneliu; Muntean, Liviu Iuliu; Mironescu, Aurel Sandu; Nsengimana, Vizir Jean Paul; Niragire, Alice; Ingabire, Jean De La Croix Allen; Niyirera, Eugene; Zanini, Nicola; Jovine, Elio; Landolfo, Giovanni; Alomar, Ibrahim N.; Alnuqaydan, Saleh A.; Altwigry, Abdulrahman M.; Othman, Moayad; Osman, Nohad; Alqahtani, Enas; Alzahrani, Mohammed; Alyami, Rifan; Aljohani, Emad; Alhabli, Ibrahim; Mikwar, Zaher; Almuallem, Sultan; Aljohani, Emad; Alyami, Rifan; Alzahrani, Mohammed; Nawawi, Abrar; Bakhaidar, Mohamad; Maghrabi, Ashraf A.; Alsaggaf, Mohammed; Aljiffry, Murad; Altaf, Abdulmalik; Khoja, Ahmad; Habeebullah, Alaa; Akeel, Nouf; Ghandora, Nashat; Almoflihi, Abdullah; Huwait, Abdulmalik; Al‐shammari, Abeer; Al‐Mousa, Mashael; Alghamdi, Masood; Adham, Walid; Albeladi, Bandar; Alfarsi, Muayad Ahmed; Mahdi, Atif; Al Awwad, Saad; Altamimi, Afnan; Nouh, Thamer; Hassanain, Mazen; Aldhafeeri, Salman; Sadig, Nawal; Algohary, Osama; Aledrisy, Mohannad; Gudal, Ahmad; Alrifaie, Ahmad; AlRowais, Mohammed; Althwainy, Amani; Shabkah, Alaa; Alamoudi, Uthman; Alrajraji, Mawaddah; Alghamdi, Basim; Aljohani, Saud; Daqeeq, Abdullah; Al‐Faifi, Jubran J; Jennings, Vicky; Ngayu, Nyawira
Global variation in anastomosis and end colostomy formation following left-sided colorectal resection
No full text3427sinoneBackground: End colostomy rates following colorectal resection vary across institutions in high-income settings, being influenced by patient, disease, surgeon and system factors. This study aimed to assess global variation in end colostomy rates after left-sided colorectal resection. Methods: This study comprised an analysis of GlobalSurg-1 and-2 international, prospective, observational cohort studies (2014, 2016), including consecutive adult patients undergoing elective or emergency left-sided colorectal resection within discrete 2-week windows. Countries were grouped into high-, middle-and low-income tertiles according to the United Nations Human Development Index (HDI). Factors associated with colostomy formation versus primary anastomosis were explored using a multilevel, multivariable logistic regression model. Results: In total, 1635 patients from 242 hospitals in 57 countries undergoing left-sided colorectal resection were included: 113 (6·9 per cent) from low-HDI, 254 (15·5 per cent) from middle-HDI and 1268 (77·6 percent) from high-HDI countries. There was a higher proportion of patients with perforated disease (57·5, 40·9 and 35·4 per cent; P < 0·001) and subsequent use of end colostomy (52·2, 24·8 and 18·9 per cent; P < 0·001) in low-compared with middle-and high-HDI settings. The association with colostomy use in low-HDI settings persisted (odds ratio (OR) 3·20, 95 per cent c.i. 1·35 to 7·57; P = 0·008) after risk adjustment for malignant disease (OR 2·34, 1·65 to 3·32; P < 0·001), emergency surgery (OR 4·08, 2·73 to 6·10; P < 0·001), time to operation at least 48 h (OR 1·99, 1·28 to 3·09; P = 0·002) and disease perforation (OR 4·00, 2·81 to 5·69; P < 0·001). Conclusion: Global differences existed in the proportion of patients receiving end stomas after left-sided colorectal resection based on income, which went beyond case mix alone.noneGlasbey, James C; Adisa, Adewale O; Costas‐Chavarri, Ainhoa; Qureshi, Ahmad U; Allen‐Ingabire, Jean C; Salem, Hosni Khairy; Kojo, Anyomih Theophilus Teddy; Tabiri, Stephen; Nepogodiev, Dmitri; Lilford, Richard J; Harrison, Ewen M; Pinkney, Thomas D; Smart, Neil; Bhangu, Aneel; Verjee, Azmina; Runigamugabo, Emmy; Glasbey, James; Bhangu, Aneel; Ademuyiwa, Adesoji O; Adisa, Adewale O; Aguilera, Maria Lorena; Altamini, Afnan; Alexander, Philip; Al‐Saqqa, Sara W; Borda‐Luque, Giuliano; Cornick, Jen; Costas‐Chavarri, Ainhoa; Drake, Thomas M; Fergusson, Stuart J; Fitzgerald, J Edward; Glasbey, James; Ingabire, J.C Allen; Ismaïl, Lawani; Jaffry, Zahra; Salem, Hosni Khairy; Khatri, Chetan; Kirby, Andrew; Kojo, Anyomih Theophilus Teddy; Lapitan, Marie Carmela; Lilford, Richard; Mihaljevic, Andre L; Mohan, Midhun; Morton, Dion; 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Mouttalib, Sofia; Bouali, Ourdia; Hervieux, Erik; Aigrain, Yves; Botto, Nathalie; Faure, Alice; Fievet, Lucile; Panait, Nicoleta; Eyssartier, Emilie; Schmitt, Francoise; Podevin, Guillaume; Parent, Valentine; Martin, Amandine; Arnaud, Alexis Pierre; Muller, Cecile; Bonnard, Arnaud; Peycelon, Matthieu; Abantanga, Francis; Boakye‐Yiadom, Kwaku; Bukari, Mohammed; Owusu, Frank; Awuku‐Asabre, Joseph; Tabiri, Stephen; Bray, Lemuel Davies; Lytras, Dimitrios; Psarianos, Kyriakos; Bamicha, Anastasia; Kefalidi, Eirini; Gemenetzis, Georgios; Dervenis, Christos; Gouvas, Nikolaos; Agalianos, Christos; Kontos, Michail; Kouraklis, Gregory; Karousos, Dimitrios; Germanos, Stylianos; Marinos, Constantinos; Anthoulakis, Christos; Nikoloudis, Nikolaos; Mitroudis, Nikolaos; Recinos, Gustavo; Estupinian, Sergio; Forno, Walter; Azmitia, José René Arévalo; Cabrera, Carla Cecilia Ramãrez; Guevara, Romeo; Aguilera, Maria; Mendez, Napoleon; Mendizabal, Cesar Augusto Azmitia; Ramazzini, Pablo; Urquizu, Mario Contreras; Tale, Fernando; Soley, Rafael; Barrios, Emanuel; Barrios, Emmanuel; Rodríguez, Daniel Estuardo Marroquín; Velásquez, Carlos Iván Pérez; Mérida, Sara María Contreras; Regalado, Francisco; Lopez, Mario; Siguantay, Miguel; Lam, Fong Yee; Szeto, Kylie Joan‐yi; Szeto, Charing Cheuk Ling; Li, Wing Sum; Li, Kieran Ka Kei; Leung, Man Fung; Mak, Tony; Ng, Simon; Prasad, SS; Kirishnan, Anand; Gyanchandani, Nidhi; Kumar, Bylapudi Seshu; Rangarajan, Muthukumaran; Bhat, Sriram; Sreedharan, Anjana; Kinnera, S.V.; Reddy, Yella; Venugopal, Caranj; Kumar, Sunil; Mittal, Abhishek; Nadkarni, Shravan; Lakshmi, Harish Neelamraju; Malik, Puneet; Limaye, Neel; Pai, Srinivas; Jain, Pratik; Khajanchi, Monty; Satoskar, Savni; Satoskar, Rajeev; Mahamood, Abid Bin; Sutanto, Eldaa Prisca Refianti; Soeselo, Daniel Ardian; Tedjaatmadja, Chintya; Rahmawati, Fitriana Nur; Amandito, Radhian; Mayasari, Maria; Al‐Hasani, Ruqaya Kadhim Mohammed Jawad; Al‐Hameedi, Hasan Ismael Ibraheem; Ibraheem, Hasan Ismael; Al‐Azraqi, Israa Abdullah Aziz; Sabeeh, Lubna; Kamil, Rahma; Shawki, Marwan; Telfah, Muwaffaq Mezeil; Rasendran, Amoudtha; Sheehan, Jacqueline; Kerley, Robert; Normile, Caoimhe; Gilbert, Richard William; Song, Jiheon; Dablouk, Mohamed; Mauro, Linnea; Dablouk, Mohammed Osman; Hanrahan, Michael; Kielty, Paul; Marks, Eleanor; Gosling, Simon; Mccarthy, Michelle; Rasendran, Amoudtha; Mirghani, Diya; Naqvi, Syed Altaf; Wong, Chee Siong; Chung, Siyi; D'cruz, Reuban; Cahill, Ronan; Gosling, Simon George; Mccarthy, Michelle; Rasendran, Amoudtha; Fahy, Ciara; Song, Jiheon; Hanrahan, Michael; Cadogan, Diana Duarte; Powell, Anna; Gilbert, Richard; Clifford, Caroline; Normile, Caoimhe; Driscoll, Aoife; Paul, Stassen; Lee, Chris; Bowe, Ross; Hutch, William; Hanrahan, Michael; Mohan, Helen; O'neill, Maeve; Mealy, Kenneth; Danelli, Piergiorgio; Bondurri, Andrea; Maffioli, Anna; Pasini, Mario; Pata, Giacomo; Roncali, Stefano; Silvani, Paolo; Carlucci, Michele; Faccincani, Roberto; Bonavina, Luigi; Macchitella, Yuri; Ceriani, Chiara; Tugnoli, Gregorio; Di Saverio, Salomone; Khattab, Khaled; Paludi, Miguel Angel; Pata, Domenica; Cloro, Luigi Maria; Allegri, Andrea; Ansaloni, Luca; Coccolini, Federico; Veronese, Ezio; Bortolasi, Luca; Hasheminia, Alireza; Nastri, Giacomo; Canto, Massimiliano Dal; Cucumazzo, Stefano; Pata, Francesco; Benevento, Angelo; Tessera, Gaetano; Grandinetti, Pier Paolo; Maniscalco, Alessio; Lamanna, Giovanni Luca; Turati, Luca; Sgroi, Giovanni; Rausa, Emanuele; Villa, Roberta; Monteleone, Michela; Merlini, David; Coccolini, Federico; Ansaloni, Luca; Allegri, Andrea; Grassi, Veronica; Cirocchi, Roberto; Cacurri, Alban; Waleed, Hamza; Diab, Ahmed; Elzowawi, Fathi; Jokubauskas, Mantas; Varkalys, Karolis; Venskutonis, Donatas; Pranevicius, Robertas; Ambrozeviciute, Viktorija; Juciute, Simona; Skardžiukaitė, Austė; Venskutonis, Donatas; Bradulskis, Saulius; Urbanavicius, Linas; Austraite, Aiste; Riauka, Romualdas; Zilinskas, Justas; Dambrauskas, Zilvinas; Karumnas, Paulius; Urniezius, Zigmantas; Zilinskiene, Reda; Rudzenskaite, Anele; Usaityte, Ausrine; Montrimaite, Margarita; Kaselis, Nerijus; Strazdas, Andrius; Jokubonis, Kristijonas; Maceviciute, Kornelija; Beisa, Virgilijus; Poskus, Tomas; Strupas, Kestutis; Laugzemys, Erikas; Kolosov, Andrej; Jotautas, Valdemaras; Rakita, Ignas; Mikalauskas, Saulius; Kazanavicius, Darius; Rackauskas, Rokas; Strupas, Kestutis; Poskus, Tomas; Beisa, Virgilijus; Rakauskas, Ritauras; Preckailaite, Egle; Coomber, Ross; Johnson, Kenneth; Nowers, Jennifer; Periasammy, Dineshwary; Salleh, Afizah; Das, Andre; Tze, Reuben Goh Ern; Kumar, Milaksh Nirumal; Abdullah, Nik Azim Nik; Kosai, Nik Ritza; Taher, Mustafa; Rajan, Reynu; Chong, Hoong Yin; Roslani, April Camilla; Goh, Cheng Chun; Agius, Marija; Borg, Elaine; Bezzina, Maureen; Bugeja, Roberta; Vella‐Baldacchino, Martinique; Spina, Andrew; Psaila, Josephine; Francois‐Coridon, Helene; Tolg, Cecilia; Colombani, Jean‐Francois; Diaz‐Zorrilla, Carmina; De La Medina, Antonio Ramos‐; Gonzalez, Samantha Corro‐Diaz; Jacobe, Mário; Mapasse, Domingos; Snyder, Elizabeth; Oumer, Ramadan; Osman, Mohammed; Mohammad, Aminu; Anyanwu, Lofty‐John; Sheshe, Abdulrahman; Adesina, Alaba; Faturoti, Olubukola; Taiwo, Ogechukwu; Ibrahim, Muhammad Habib; Nasir, Abdulrasheed A; Suleiman, Siyaka Itopa; Adeniyi, Adewale; Adesanya, Opeoluwa; Adebanjo, Ademola; Osuoji, Roland; Atobatele, Kazeem; Ogunyemi, Ayokunle; Williams, Omolara; Oludara, Mobolaji; Oshodi, Olabode; Ademuyiwa, Adesoji; Lawal, AbdulRazzaq Oluwagbemiga; Alakaloko, Felix; Elebute, Olumide; Osinowo, Adedapo; Bode, Christopher; Adesuyi, Abidemi; Tade, Adesoji; Adekoya, Adeleke; Nwokoro, Collins; Ayandipo, Omobolaji O; Lawal, Taiwo Akeem; Ajao, Akinlabi E; Ali, Samuel Sani; Odeyemi, Babatunde; Olori, Samson; Popoola, Ademola; Adeyeye, Ademola; Adeniran, James; Lossius, William J.; Havemann, Ingemar; Thorsen, Kenneth; Narvestad, Jon Kristian; Soreide, Kjetil; Wold, Trude Beate; Nymo, Linn; Elsiddig, Mohammed; Dar, Manzoor; Bhopal, Kamran Faisal; Iftikhar, Zainab; Furqan, Muhammad Mohsin; Nighat, Bakhtiar; Jawaid, Masood; Khalique, Abdul; Zil‐E‐Ali, Ahsan; Rashid, Anam; Dharamshi, Hasnain Abbas; Naqvi, Tahira; Faraz, Ahmad; Anwar, Abdul Wahid; Yaseen, Tahir Muhammad; Shamsi, Ghina Shamim; Shamsi, Ghina; Yaseen, Tahir; Anwer, Wahid; Decoud, Horacio Paredes; Aguilera, Omar; Alvarez, Ismael Isaac Zelada; Delgado, Juan Marcelo; Vega, Gustavo Miguel Machain; Lohse, Helmut Alfredo Segovia; Aguilar, Wendy Leslie Messa; Chiong, Jose Antonio Cabala; Bautista, Ana Cecilia Manchego; Huaman, Eduardo; Zegarra, Sergio; Camacho, Rony; Celis, Jose María Vergara; Pozo, Diego Alonso Romani; Hamasaki, José; Temoche, Edilberto; Herrera‐Matta, Jaime; Torres, Carla Pierina García; Barreda, Luis Miguel Alvarez; Ojeda, Ronald Renato Barrionuevo; Garaycochea, Octavio; Mollo, Melanie Castro; Delgado, Mitchelle Solange De Fã Tima Linare; Fujii, Francisco; Bautista, Ana Cecilia Manchego; Aguilar, Wendy Leslie Messa; Chiong, Jose Antonio Cabala; Durand, Susana Yrma Aranzabal; Basto, Carlos Alejandro Arroyo; Rojas, Nelson Manuel Urbina; Yip, Sebastian Bernardo Shu; Vergara, Ana Lucia Contreras; Moran, Andrea Echevarria Rosas; Luque, Giuliano Borda; Castro, Manuel Rodriguez; Jaramillo, Ramon Alvarado; Sila, George Manrique; Lopez, Crislee Elizabeth; De Leon, Mardelangel Zapata Ponze; Machaca, Massiell; Huaraya, Ronald Coasaca; Arenas, Andy; López, Crislee; Puma, Clara Milagros Herrera; Pino, Wilfredo; Hinojosa, Christian; De Leon, Melanie Zapata Ponze; Limache, Susan; Sila, George Manrrique; Rodriguez, Layza‐Alejandra Mercado; Melo, Renato; Costa‐Maia, Jose; Muralha, Nuno; Sauvat, Frederique; Dan, Ionasc; Hogea, Mircea; Eduard, Pandi; Bratu, Razvan‐Matei; Beuran, Mircea; Diaconescu, Ionut‐Bogdan; Martian, Bogdan‐Valeriu; Iordache, Florin‐Mihail; Vartic, Mihaela; Vida, Lucian Corneliu; Muntean, Liviu Iuliu; Mironescu, Aurel Sandu; Nsengimana, Vizir Jean Paul; Niragire, Alice; Ingabire, Jean De La Croix Allen; Niyirera, Eugene; Zanini, Nicola; Jovine, Elio; Landolfo, Giovanni; Alomar, Ibrahim N.; Alnuqaydan, Saleh A.; Altwigry, Abdulrahman M.; Othman, Moayad; Osman, Nohad; Alqahtani, Enas; Alzahrani, Mohammed; Alyami, Rifan; Aljohani, Emad; Alhabli, Ibrahim; Mikwar, Zaher; Almuallem, Sultan; Aljohani, Emad; Alyami, Rifan; Alzahrani, Mohammed; Nawawi, Abrar; Bakhaidar, Mohamad; Maghrabi, Ashraf A.; Alsaggaf, Mohammed; Aljiffry, Murad; Altaf, Abdulmalik; Khoja, Ahmad; Habeebullah, Alaa; Akeel, Nouf; Ghandora, Nashat; Almoflihi, Abdullah; Huwait, Abdulmalik; Al‐shammari, Abeer; Al‐Mousa, Mashael; Alghamdi, Masood; Adham, Walid; Albeladi, Bandar; Alfarsi, Muayad Ahmed; Mahdi, Atif; Al Awwad, Saad; Altamimi, Afnan; Nouh, Thamer; Hassanain, Mazen; Aldhafeeri, Salman; Sadig, Nawal; Algohary, Osama; Aledrisy, Mohannad; Gudal, Ahmad; Alrifaie, Ahmad; AlRowais, Mohammed; Althwainy, Amani; Shabkah, Alaa; Alamoudi, Uthman; Alrajraji, Mawaddah; Alghamdi, Basim; Aljohani, Saud; Daqeeq, Abdullah; Al‐Faifi, Jubran J; Jennings, Vicky;
Whole-genome sequencing reveals host factors underlying critical COVID-19
No full text: Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2-4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes-including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)-in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19
No full textThe COVID-19 pandemic continues to pose a major public health threat, especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity, we formed the COVID-19 Host Genetics Initiative1. Here we present a genome-wide association study meta-analysis of up to 125,584 cases and over 2.5 million control individuals across 60 studies from 25 countries, adding 11 genome-wide significant loci compared with those previously identified2. Genes at new loci, including SFTPD, MUC5B and ACE2, reveal compelling insights regarding disease susceptibility and severity.</p
