keyword
https://read.qxmd.com/read/37710248/environmental-and-life-style-risk-factors-for-esophageal-squamous-cell-carcinoma-in-africa-a-systematic-review-and-meta-analysis
#1
JOURNAL ARTICLE
Hannah Simba, Helena Kuivaniemi, Christian C Abnet, Gerard Tromp, Vikash Sewram
BACKGROUND: The African Esophageal Squamous Cell Carcinoma (ESCC) corridor, which spans from Ethiopia down to South Africa, is an esophageal cancer hotspot. Disproportionately high incidence and mortality rates of esophageal cancer have been reported from this region. The aim of this study was to systematically assess the evidence on environmental and life-style risk factors associated with ESCC in African populations. METHODS: We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and carried out a comprehensive search of all African published studies up to March 2023 using PubMed, Embase, Scopus, and African Index Medicus databases...
September 14, 2023: BMC Public Health
https://read.qxmd.com/read/37258565/optimising-the-yield-from-bronchoalveolar-lavage-on-human-participants-in-infectious-disease-immunology-research
#2
JOURNAL ARTICLE
Jane Alexandra Shaw, Maynard Meiring, Devon Allies, Lauren Cruywagen, Tarryn-Lee Fisher, Kesheera Kasavan, Kelly Roos, Stefan Marc Botha, Candice MacDonald, Andriёtte M Hiemstra, Donald Simon, Ilana van Rensburg, Marika Flinn, Ayanda Shabangu, Helena Kuivaniemi, Gerard Tromp, Stephanus T Malherbe, Gerhard Walzl, Nelita du Plessis
Bronchoalveolar lavage (BAL) is becoming a common procedure for research into infectious disease immunology. Little is known about the clinical factors which influence the main outcomes of the procedure. In research participants who underwent BAL according to guidelines, the BAL volume yield, and cell yield, concentration, viability, pellet colour and differential count were analysed for association with important participant characteristics such as active tuberculosis (TB) disease, TB exposure, HIV infection and recent SARS-CoV-2 infection...
May 31, 2023: Scientific Reports
https://read.qxmd.com/read/36778283/optimising-the-yield-from-bronchoalveolar-lavage-on-human-participants-in-infectious-disease-immunology-research
#3
Jane Alexandra Shaw, Maynard Meiring, Devon Allies, Lauren Cruywagen, Tarryn-Lee Fisher, Kesheera Kasavan, Kelly Roos, Stefan Marc Botha, Candice MacDonald, Andri-Ëtte M Hiemstra, Donald Simon, Ilana van Rensburg, Marika Flinn, Ayanda Shabangu, Helena Kuivaniemi, Gerard Tromp, Stephanus T Malherbe, Gerhard Walzl, Nelita du Plessis, Stellenbosch University Immunology Research Group Bronchoalv Consortium
Bronchoalveolar lavage (BAL) is becoming a common procedure for research into infectious disease immunology. Little is known about the clinical factors which influence the main outcomes of the procedure. In research participants who underwent BAL according to guidelines, the BAL volume yield, and cell yield, concentration, viability, pellet colour and differential count were analysed for association with important participant characteristics such as active tuberculosis (TB) disease, TB exposure, HIV infection and recent SARS-CoV-2 infection...
February 2, 2023: Research Square
https://read.qxmd.com/read/36454773/neutrophil-degranulation-netosis-and-platelet-degranulation-pathway-genes-are-co-induced-in-whole-blood-up-to-six-months-before-tuberculosis-diagnosis
#4
JOURNAL ARTICLE
Stuart Meier, James A Seddon, Elizna Maasdorp, Léanie Kleynhans, Nelita du Plessis, Andre G Loxton, Stephanus T Malherbe, Daniel E Zak, Ethan Thompson, Fergal J Duffy, Stefan H E Kaufmann, Tom H M Ottenhoff, Thomas J Scriba, Sara Suliman, Jayne S Sutherland, Jill Winter, Helena Kuivaniemi, Gerhard Walzl, Gerard Tromp
Mycobacterium tuberculosis (M.tb) causes tuberculosis (TB) and remains one of the leading causes of mortality due to an infectious pathogen. Host immune responses have been implicated in driving the progression from infection to severe lung disease. We analyzed longitudinal RNA sequencing (RNAseq) data from the whole blood of 74 TB progressors whose samples were grouped into four six-month intervals preceding diagnosis (the GC6-74 study). We additionally analyzed RNAseq data from an independent cohort of 90 TB patients with positron emission tomography-computed tomography (PET-CT) scan results which were used to categorize them into groups with high and low levels of lung damage (the Catalysis TB Biomarker study)...
2022: PloS One
https://read.qxmd.com/read/35428268/cascade-immune-mechanisms-of-protection-against-mycobacterium-tuberculosis-impac-tb-study-protocol-for-the-household-contact-study-in-the-western-cape-south-africa
#5
JOURNAL ARTICLE
Andriёtte M Hiemstra, Candice E MacDonald, Ilana C van Rensburg, Kim Stanley, Elizna Maasdorp, Shirley Mc Anda, Susanne Tönsing, Jane Alexandra Shaw, Gerard Tromp, Gian D van der Spuy, Kevin B Urdahl, David M Lewinsohn, Helena Kuivaniemi, Nelita Du Plessis, Stephanus T Malherbe, Gerhard Walzl
BACKGROUND: Natural immunity against Mycobacterium tuberculosis exists, and > 90% of those infected remain disease-free. Innate and adaptive immune responses required to mediate such protection against tuberculosis (TB) are, however, poorly understood. METHODS: This is an analytical study exploring protective and non-protective pathways of immunity against Mycobacterium tuberculosis. Adults without HIV infection are recruited at community healthcare clinics in high TB incidence areas of the Western Cape Province, South Africa...
April 15, 2022: BMC Infectious Diseases
https://read.qxmd.com/read/35401654/esophageal-cancer-genomics-in-africa-recommendations-for-future-research
#6
JOURNAL ARTICLE
Hannah Simba, Gerard Tromp, Vikash Sewram, Christopher G Mathew, Wenlong C Chen, Helena Kuivaniemi
No abstract text is available yet for this article.
2022: Frontiers in Genetics
https://read.qxmd.com/read/34082466/do-hernias-contribute-to-increased-severity-of-aneurysmal-disease-among-abdominal-aortic-aneurysm-patients
#7
JOURNAL ARTICLE
Irene Hinterseher, Milena Miszczuk, Florian Corvinus, Carolin Zimmermann, Mariana Estrelinha, Diane T Smelser, Helena Kuivaniemi
BACKGROUND:  Connective tissue disorders could contribute to the pathogenesis of both abdominal aortic aneurysms (AAA) and hernias. We tested the hypothesis that hernias in AAA patients contribute to increased severity of the aneurysmal disease. METHODS:  A questionnaire was used to collect information from 195 AAA patients divided into four groups: (1) survivors ( n  = 22) of ruptured AAA, (2) patients ( n  = 90) after elective open repair, (3) patients ( n  = 43) after elective endovascular repair (EVAR), and (4) patients ( n  = 40) under surveillance of AAA...
February 2021: Aorta (Stamford, Conn.)
https://read.qxmd.com/read/33816271/editorial-fda-approved-drug-repositioning-for-p-glycoprotein-overexpressing-resistant-cancer
#8
EDITORIAL
Sungpil Yoon, Xiaoju Wang, Sompong Vongpunsawad, Gerard Tromp, Helena Kuivaniemi
No abstract text is available yet for this article.
2021: Frontiers in Oncology
https://read.qxmd.com/read/33219499/attitudes-among-south-african-university-staff-and-students-towards-disclosing-secondary-genetic-findings
#9
JOURNAL ARTICLE
Georgina Spies, Jolynne Mokaya, Jacqui Steadman, Nicole Schuitmaker, Martin Kidd, S M J Hemmings, Jonathan A Carr, Helena Kuivaniemi, Soraya Seedat
The present study represents an initial step in understanding diverse academic perspectives on the disclosure of secondary findings (SFs) from genetic research conducted in Africa. Using an online survey completed by 674 university students and academic staff in South Africa, we elicited attitudes towards the return of SFs. Latent class analysis (LCA) was performed to classify sub-groups of participants according to their overall attitudes to returning SFs. We did not find substantial differences in attitudes towards the return of findings between staff and students...
November 20, 2020: Journal of Community Genetics
https://read.qxmd.com/read/32471416/association-of-simple-renal-cysts-and-chronic-kidney-disease-with-large-abdominal-aortic-aneurysm
#10
JOURNAL ARTICLE
Milena Miszczuk, Verena Müller, Christian E Althoff, Andrea Stroux, Daniela Widhalm, Andy Dobberstein, Andreas Greiner, Helena Kuivaniemi, Irene Hinterseher
BACKGROUND: Abdominal aortic aneurysms (AAA) primarily affect men over 65 years old who often have many other diseases, with similar risk factors and pathobiological mechanisms to AAA. The aim of this study was to assess the prevalence of simple renal cysts (SRC), chronic kidney disease (CKD), and other kidney diseases (e.g. nephrolithiasis) among patients presenting with AAA. METHODS: Two groups of patients (97 AAA and 100 controls), with and without AAA, from the Surgical Clinic Charité, Berlin, Germany, were selected for the study...
May 29, 2020: BMC Nephrology
https://read.qxmd.com/read/32019516/targeted-next-generation-sequencing-identifies-novel-variants-in-candidate-genes-for-parkinson-s-disease-in-black-south-african-and-nigerian-patients
#11
JOURNAL ARTICLE
Oluwafemi G Oluwole, Helena Kuivaniemi, Shameemah Abrahams, William L Haylett, Alvera A Vorster, Carel J van Heerden, Colin P Kenyon, David L Tabb, Michael B Fawale, Taofiki A Sunmonu, Abiodun Ajose, Matthew O Olaogun, Anastasia C Rossouw, Ludo S van Hillegondsberg, Jonathan Carr, Owen A Ross, Morenikeji A Komolafe, Gerard Tromp, Soraya Bardien
BACKGROUND: The prevalence of Parkinson's disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan African populations have the potential to reveal novel insights into the pathobiology of PD. In this study, we aimed to characterise the genetic variation in known and novel PD genes in a group of Black South African and Nigerian patients. METHODS: We recruited 33 Black South African and 14 Nigerian PD patients, and screened them for sequence variants in 751 genes using an Ion AmpliSeq™ Neurological Research panel...
February 4, 2020: BMC Medical Genetics
https://read.qxmd.com/read/31842235/genes-associated-with-thoracic-aortic-aneurysm-and-dissection-2019-update-and-clinical-implications
#12
JOURNAL ARTICLE
Thais Faggion Vinholo, Adam J Brownstein, Bulat A Ziganshin, Mohammad A Zafar, Helena Kuivaniemi, Simon C Body, Allen E Bale, John A Elefteriades
Thoracic aortic aneurysm is a typically silent disease characterized by a lethal natural history. Since the discovery of the familial nature of thoracic aortic aneurysm and dissection (TAAD) almost 2 decades ago, our understanding of the genetics of this disorder has undergone a transformative amplification. To date, at least 37 TAAD-causing genes have been identified and an estimated 30% of the patients with familial nonsyndromic TAAD harbor a pathogenic mutation in one of these genes. In this review, we present our yearly update summarizing the genes associated with TAAD and the ensuing clinical implications for surgical intervention...
June 2019: Aorta (Stamford, Conn.)
https://read.qxmd.com/read/31805597/comorbidities-associated-with-large-abdominal-aortic-aneurysms
#13
JOURNAL ARTICLE
Verena Müller, Milena Miszczuk, Christian E Althoff, Andrea Stroux, Andreas Greiner, Helena Kuivaniemi, Irene Hinterseher
BACKGROUND:  Abdominal aortic aneurysm has become increasingly important owing to demographic changes. Some other diseases, for example, cholecystolithiasis, chronic obstructive pulmonary disease, and hernias, seem to co-occur with abdominal aortic aneurysm. The aim of this retrospective analysis was to identify new comorbidities associated with abdominal aortic aneurysm. METHODS:  We compared 100 patients with abdominal aortic aneurysms and 100 control patients...
June 2019: Aorta (Stamford, Conn.)
https://read.qxmd.com/read/31530833/pharmacological-inhibition-of-notch-signaling-regresses-pre-established-abdominal-aortic-aneurysm
#14
JOURNAL ARTICLE
Neekun Sharma, Rishabh Dev, Juan de Dios Ruiz-Rosado, Santiago Partida-Sanchez, Mireia Guerau-de-Arellano, Pramod Dhakal, Helena Kuivaniemi, Chetan P Hans
Abdominal aortic aneurysm (AAA) is characterized by transmural infiltration of myeloid cells at the vascular injury site. Previously, we reported preventive effects of Notch deficiency on the development of AAA by reduction of infiltrating myeloid cells. In this study, we examined if Notch inhibition attenuates the progression of pre-established AAA and potential implications. Pharmacological Notch inhibitor (N-[N-(3,5-difluorophenacetyl)-L-alanyl]-(S)-phenylglycine t-butyl ester; DAPT) was administered subcutaneously three times a week starting at day 28 of angiotensin II (AngII) infusion...
September 17, 2019: Scientific Reports
https://read.qxmd.com/read/31249589/a-trans-ethnic-genome-wide-association-study-of-uterine-fibroids
#15
JOURNAL ARTICLE
Todd L Edwards, Ayush Giri, Jacklyn N Hellwege, Katherine E Hartmann, Elizabeth A Stewart, Janina M Jeff, Michael J Bray, Sarah A Pendergrass, Eric S Torstenson, Jacob M Keaton, Sarah H Jones, Radhika P Gogoi, Helena Kuivaniemi, Kathryn L Jackson, Abel N Kho, Iftikhar J Kullo, Catherine A McCarty, Hae Kyung Im, Jennifer A Pacheco, Jyotishman Pathak, Marc S Williams, Gerard Tromp, Eimear E Kenny, Peggy L Peissig, Joshua C Denny, Dan M Roden, Digna R Velez Edwards
Uterine fibroids affect up to 77% of women by menopause and account for up to $34 billion in healthcare costs each year. Although fibroid risk is heritable, genetic risk for fibroids is not well understood. We conducted a two-stage case-control meta-analysis of genetic variants in European and African ancestry women with and without fibroids classified by a previously published algorithm requiring pelvic imaging or confirmed diagnosis. Women from seven electronic Medical Records and Genomics (eMERGE) network sites (3,704 imaging-confirmed cases and 5,591 imaging-confirmed controls) and women of African and European ancestry from UK Biobank (UKB, 5,772 cases and 61,457 controls) were included in the discovery genome-wide association study (GWAS) meta-analysis...
2019: Frontiers in Genetics
https://read.qxmd.com/read/31160809/publisher-correction-protein-altering-variants-associated-with-body-mass-index-implicate-pathways-that-control-energy-intake-and-expenditure-in-obesity
#16
Valérie Turcot, Yingchang Lu, Heather M Highland, Claudia Schurmann, Anne E Justice, Rebecca S Fine, Jonathan P Bradfield, Tõnu Esko, Ayush Giri, Mariaelisa Graff, Xiuqing Guo, Audrey E Hendricks, Tugce Karaderi, Adelheid Lempradl, Adam E Locke, Anubha Mahajan, Eirini Marouli, Suthesh Sivapalaratnam, Kristin L Young, Tamuno Alfred, Mary F Feitosa, Nicholas G D Masca, Alisa K Manning, Carolina Medina-Gomez, Poorva Mudgal, Maggie C Y Ng, Alex P Reiner, Sailaja Vedantam, Sara M Willems, Thomas W Winkler, Gonçalo Abecasis, Katja K Aben, Dewan S Alam, Sameer E Alharthi, Matthew Allison, Philippe Amouyel, Folkert W Asselbergs, Paul L Auer, Beverley Balkau, Lia E Bang, Inês Barroso, Lisa Bastarache, Marianne Benn, Sven Bergmann, Lawrence F Bielak, Matthias Blüher, Michael Boehnke, Heiner Boeing, Eric Boerwinkle, Carsten A Böger, Jette Bork-Jensen, Michiel L Bots, Erwin P Bottinger, Donald W Bowden, Ivan Brandslund, Gerome Breen, Murray H Brilliant, Linda Broer, Marco Brumat, Amber A Burt, Adam S Butterworth, Peter T Campbell, Stefania Cappellani, David J Carey, Eulalia Catamo, Mark J Caulfield, John C Chambers, Daniel I Chasman, Yii-Der I Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, Massimiliano Cocca, Francis S Collins, James P Cook, Janie Corley, Jordi Corominas Galbany, Amanda J Cox, David S Crosslin, Gabriel Cuellar-Partida, Angela D'Eustacchio, John Danesh, Gail Davies, Paul I W Bakker, Mark C H Groot, Renée Mutsert, Ian J Deary, George Dedoussis, Ellen W Demerath, Martin Heijer, Anneke I Hollander, Hester M Ruijter, Joe G Dennis, Josh C Denny, Emanuele Di Angelantonio, Fotios Drenos, Mengmeng Du, Marie-Pierre Dubé, Alison M Dunning, Douglas F Easton, Todd L Edwards, David Ellinghaus, Patrick T Ellinor, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, I Sadaf Farooqi, Jessica D Faul, Sascha Fauser, Shuang Feng, Ele Ferrannini, Jean Ferrieres, Jose C Florez, Ian Ford, Myriam Fornage, Oscar H Franco, Andre Franke, Paul W Franks, Nele Friedrich, Ruth Frikke-Schmidt, Tessel E Galesloot, Wei Gan, Ilaria Gandin, Paolo Gasparini, Jane Gibson, Vilmantas Giedraitis, Anette P Gjesing, Penny Gordon-Larsen, Mathias Gorski, Hans-Jörgen Grabe, Struan F A Grant, Niels Grarup, Helen L Griffiths, Megan L Grove, Vilmundur Gudnason, Stefan Gustafsson, Jeff Haessler, Hakon Hakonarson, Anke R Hammerschlag, Torben Hansen, Kathleen Mullan Harris, Tamara B Harris, Andrew T Hattersley, Christian T Have, Caroline Hayward, Liang He, Nancy L Heard-Costa, Andrew C Heath, Iris M Heid, Øyvind Helgeland, Jussi Hernesniemi, Alex W Hewitt, Oddgeir L Holmen, G Kees Hovingh, Joanna M M Howson, Yao Hu, Paul L Huang, Jennifer E Huffman, M Arfan Ikram, Erik Ingelsson, Anne U Jackson, Jan-Håkan Jansson, Gail P Jarvik, Gorm B Jensen, Yucheng Jia, Stefan Johansson, Marit E Jørgensen, Torben Jørgensen, J Wouter Jukema, Bratati Kahali, René S Kahn, Mika Kähönen, Pia R Kamstrup, Stavroula Kanoni, Jaakko Kaprio, Maria Karaleftheri, Sharon L R Kardia, Fredrik Karpe, Sekar Kathiresan, Frank Kee, Lambertus A Kiemeney, Eric Kim, Hidetoshi Kitajima, Pirjo Komulainen, Jaspal S Kooner, Charles Kooperberg, Tellervo Korhonen, Peter Kovacs, Helena Kuivaniemi, Zoltán Kutalik, Kari Kuulasmaa, Johanna Kuusisto, Markku Laakso, Timo A Lakka, David Lamparter, Ethan M Lange, Leslie A Lange, Claudia Langenberg, Eric B Larson, Nanette R Lee, Terho Lehtimäki, Cora E Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Honghuang Lin, Keng-Hung Lin, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Ching-Ti Liu, Dajiang J Liu, Yongmei Liu, Ken S Lo, Artitaya Lophatananon, Andrew J Lotery, Anu Loukola, Jian'an Luan, Steven A Lubitz, Leo-Pekka Lyytikäinen, Satu Männistö, Gaëlle Marenne, Angela L Mazul, Mark I McCarthy, Roberta McKean-Cowdin, Sarah E Medland, Karina Meidtner, Lili Milani, Vanisha Mistry, Paul Mitchell, Karen L Mohlke, Leena Moilanen, Marie Moitry, Grant W Montgomery, Dennis O Mook-Kanamori, Carmel Moore, Trevor A Mori, Andrew D Morris, Andrew P Morris, Martina Müller-Nurasyid, Patricia B Munroe, Mike A Nalls, Narisu Narisu, Christopher P Nelson, Matt Neville, Sune F Nielsen, Kjell Nikus, Pål R Njølstad, Børge G Nordestgaard, Dale R Nyholt, Jeffrey R O'Connel, Michelle L O'Donoghue, Loes M Olde Loohuis, Roel A Ophoff, Katharine R Owen, Chris J Packard, Sandosh Padmanabhan, Colin N A Palmer, Nicholette D Palmer, Gerard Pasterkamp, Aniruddh P Patel, Alison Pattie, Oluf Pedersen, Peggy L Peissig, Gina M Peloso, Craig E Pennell, Markus Perola, James A Perry, John R B Perry, Tune H Pers, Thomas N Person, Annette Peters, Eva R B Petersen, Patricia A Peyser, Ailith Pirie, Ozren Polasek, Tinca J Polderman, Hannu Puolijoki, Olli T Raitakari, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Frida Renström, Myriam Rheinberger, Paul M Ridker, John D Rioux, Manuel A Rivas, David J Roberts, Neil R Robertson, Antonietta Robino, Olov Rolandsson, Igor Rudan, Katherine S Ruth, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Yadav Sapkota, Naveed Sattar, Robert E Schoen, Pamela J Schreiner, Matthias B Schulze, Robert A Scott, Marcelo P Segura-Lepe, Svati H Shah, Wayne H-H Sheu, Xueling Sim, Andrew J Slater, Kerrin S Small, Albert V Smith, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Kari Stefansson, Valgerdur Steinthorsdottir, Kathleen E Stirrups, Konstantin Strauch, Heather M Stringham, Michael Stumvoll, Liang Sun, Praveen Surendran, Amy J Swift, Hayato Tada, Katherine E Tansey, Jean-Claude Tardif, Kent D Taylor, Alexander Teumer, Deborah J Thompson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Betina H Thuesen, Anke Tönjes, Gerard Tromp, Stella Trompet, Emmanouil Tsafantakis, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Jonathan P Tyrer, Rudolf Uher, André G Uitterlinden, Matti Uusitupa, Sander W Laan, Cornelia M Duijn, Nienke Leeuwen, Jessica van Setten, Mauno Vanhala, Anette Varbo, Tibor V Varga, Rohit Varma, Digna R Velez Edwards, Sita H Vermeulen, Giovanni Veronesi, Henrik Vestergaard, Veronique Vitart, Thomas F Vogt, Uwe Völker, Dragana Vuckovic, Lynne E Wagenknecht, Mark Walker, Lars Wallentin, Feijie Wang, Carol A Wang, Shuai Wang, Yiqin Wang, Erin B Ware, Nicholas J Wareham, Helen R Warren, Dawn M Waterworth, Jennifer Wessel, Harvey D White, Cristen J Willer, James G Wilson, Daniel R Witte, Andrew R Wood, Ying Wu, Hanieh Yaghootkar, Jie Yao, Pang Yao, Laura M Yerges-Armstrong, Robin Young, Eleftheria Zeggini, Xiaowei Zhan, Weihua Zhang, Jing Hua Zhao, Wei Zhao, Wei Zhao, Wei Zhou, Krina T Zondervan, Jerome I Rotter, John A Pospisilik, Fernando Rivadeneira, Ingrid B Borecki, Panos Deloukas, Timothy M Frayling, Guillaume Lettre, Kari E North, Cecilia M Lindgren, Joel N Hirschhorn, Ruth J F Loos
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
July 2019: Nature Genetics
https://read.qxmd.com/read/31075413/type-iii-collagen-col3a1-gene-and-protein-structure-tissue-distribution-and-associated-diseases
#17
REVIEW
Helena Kuivaniemi, Gerard Tromp
Collagen alpha-1(III) chain, also known as the alpha 1 chain of type III collagen, is a protein that in humans is encoded by the COL3A1 gene. Three alpha 1 chains are required to form the type III collagen molecule which has a long triple-helical domain. Type III collagen, an extracellular matrix protein, is synthesized by cells as a pre-procollagen. It is found as a major structural component in hollow organs such as large blood vessels, uterus and bowel. Other functions of type III collagen include interaction with platelets in the blood clotting cascade and it is also an important signaling molecule in would healing...
May 7, 2019: Gene
https://read.qxmd.com/read/30573414/parkinson-s-disease-in-nigeria-a-review-of-published-studies-and-recommendations-for-future-research
#18
REVIEW
Oluwafemi G Oluwole, Helena Kuivaniemi, Jonathan A Carr, Owen A Ross, Matthew O B Olaogun, Soraya Bardien, Morenikeji A Komolafe
Parkinson's disease (PD) affects 1-2% of individuals above 60 years amounting to over 7 million people worldwide. Thus, PD has become an important contributor to the neurological disease burden. Nigeria is the most populous country in Africa, and alarmingly, approximately 5.25 million Nigerians are above 65 years and are therefore at risk for developing PD. We carried out a critical review of published literature on PD in Nigeria to summarize the findings and to evaluate gaps in knowledge. Seven electronic databases were searched for studies published in English before 18th July 2018...
December 8, 2018: Parkinsonism & related Disorders
https://read.qxmd.com/read/30337540/abdominal-aortic-aneurysms
#19
REVIEW
Natzi Sakalihasan, Jean-Baptiste Michel, Athanasios Katsargyris, Helena Kuivaniemi, Jean-Olivier Defraigne, Alain Nchimi, Janet T Powell, Koichi Yoshimura, Rebecka Hultgren
An abdominal aortic aneurysm (AAA) is a localized dilatation of the infrarenal aorta. AAA is a multifactorial disease, and genetic and environmental factors play a part; smoking, male sex and a positive family history are the most important risk factors, and AAA is most common in men >65 years of age. AAA results from changes in the aortic wall structure, including thinning of the media and adventitia due to the loss of vascular smooth muscle cells and degradation of the extracellular matrix...
October 18, 2018: Nature Reviews. Disease Primers
https://read.qxmd.com/read/30079932/genes-associated-with-thoracic-aortic-aneurysm-and-dissection-2018-update-and-clinical-implications
#20
JOURNAL ARTICLE
Adam J Brownstein, Valentyna Kostiuk, Bulat A Ziganshin, Mohammad A Zafar, Helena Kuivaniemi, Simon C Body, Allen E Bale, John A Elefteriades
Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%, are potentially lethal, via rupture or dissection. Over the prior two decades, there has been an exponential increase in our understanding of the genetics of thoracic aortic aneurysm and/or dissection (TAAD). To date, 30 genes have been shown to be associated with the development of TAAD and ∼30% of individuals with nonsyndromic familial TAAD have a pathogenic mutation in one of these genes. This review represents the authors' yearly update summarizing the genes associated with TAAD, including implications for the surgical treatment of TAAD...
February 2018: Aorta (Stamford, Conn.)
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