Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Aimé LUMAKA"'
Autor:
Paul Lumbala Kabuyi, Gloire Mbayabo, Mamy Ngole, Aimé Lumaka Zola, Valerie Race, Gert Matthijs, Chris Van Geet, Prosper Lukusa Tshilobo, Koenraad Devriendt, Tite Minga Mikobi
Publikováno v:
eJHaem, Vol 4, Iss 3, Pp 595-601 (2023)
Abstract Background: Despite a high incidence of sickle cell anemia, hydroxyurea (HU) treatment is rarely used in the DR Congo. This study aims to assess the efficacy of HU, the incidence of side effects that may limit its use in adults and to determ
Externí odkaz:
https://doaj.org/article/dab20ddfd3a84212b5cada2b70d7092d
Autor:
Yannick Nlandu, Jean-Robert Makulo, Marie Essig, Ernest Sumaili, Aimé Lumaka, Yannick Engole, Marie-France Mboliasa, Vieux Mokoli, Trésor Tshiswaka, Aliocha Nkodila, Justine Bukabau, Augustin Longo, François Kajingulu, Chantal Zinga, Nazaire Nseka
Publikováno v:
Renal Failure, Vol 45, Iss 2 (2023)
Introduction Acute kidney injury (AKI) is a complication of severe coronavirus disease 2019 (COVID-19). Kidney damage associated with COVID-19 could take specific features due to environmental and socio-cultural factors. This study evaluates the inci
Externí odkaz:
https://doaj.org/article/a7a72b9117f34d139db8ff76db0f7a7f
Autor:
Gloire Mbayabo, Mamy Ngole, Paul Kabuyi Lumbala, Aimé Lumaka, Valerie Race, Gert Matthijs, Tite Minga Mikobi, Koenraad Devriendt, Chris Van Geet, Prosper Tshilobo Lukusa
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTBackground: Sickle Cell Anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB. The disease severity is very variable and depends on many factors. We evaluated the clinical and biological profile
Externí odkaz:
https://doaj.org/article/34f2e67d7afd4d9691ea584959c2579a
Publikováno v:
Global Medical Genetics, Vol 10, Iss 01, Pp 001-005 (2023)
Background Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1, MSH2, MSH6, and PMS2 (post-meiotic segregation increased 2). The MMR mutation carriers have high risk fo
Externí odkaz:
https://doaj.org/article/ff247c6dc8c14d4596d3d1046332de02
Autor:
Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré, as members of the Rare Disease Working Group of the H3Africa Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
Abstract The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more diffi
Externí odkaz:
https://doaj.org/article/c0954aa3cc6e43369b949ba24f84d6e5
Autor:
Joseph M. Bodi, Célestin N. Nsibu, Roland L. Longenge, Michel N. Aloni, Pierre Z. Akilimali, Patrick K. Kayembe, Ahmeddin H. Omar, Jan Verhaegen, Pierre M. Tshibassu, Prosper T. Lukusa, Aimé Lumaka, Kenji Hirayama
Publikováno v:
Malaria Journal, Vol 19, Iss 1, Pp 1-8 (2020)
Abstract Background Blackwater fever (BWF), one of the most severe and life-threatening forms of falciparum malaria, is characterized by acute massive intravascular haemolysis, often leading to acute renal failure. Thus far, the genetics of the under
Externí odkaz:
https://doaj.org/article/0a20c394773a4268a5c62522a0225525
Autor:
Paul Kabuyi Lumbala, Gloire Mbayabo, Mamy Nzita Ngole, Aimé Lumaka, Valerie Race, Gert Matthijs, Chris Van Geet, Prosper Tshilobo Lukusa, Koenraad Devriendt, Tite Minga Mikobi
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0278478 (2022)
BackgroundSickle cell anemia (SCA) is a monogenic hemoglobinopathy associated with severe acute and chronic complications, with the highest incidence worldwide in Sub-Saharan Africa. The wide variability in clinical manifestations suggest that a unif
Externí odkaz:
https://doaj.org/article/fe73b06b50184c348dbc70de6f338622
Autor:
Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Julie Harvengt, François Boemer, André Mulder, Sandrine Vaessen, Renaud Viellevoye, Leonor Palmeira, Benoit Charloteaux, Anne Brysse, Saskia Bulk, Vincent Rigo, Vincent Bours
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 4003 (2023)
Rapid Whole Genome Sequencing (rWGS) represents a valuable exploration in critically ill pediatric patients. Early diagnosis allows care to be adjusted. We evaluated the feasibility, turnaround time (TAT), yield, and utility of rWGS in Belgium. Twent
Externí odkaz:
https://doaj.org/article/8a0dae43feb44b0b9eb680a62995f7d0
Autor:
François Boemer, Claire Josse, Géraldine Luis, Emmanuel Di Valentin, Jérôme Thiry, Christophe Cello, Jean-Hubert Caberg, Caroline Dadoumont, Julie Harvengt, Aimé Lumaka, Vincent Bours, François-Guillaume Debray
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 4, p 2253 (2022)
Branched-chain amino acids (BCAA) are essential amino acids playing crucial roles in protein synthesis and brain neurotransmission. Branched-chain ketoacid dehydrogenase (BCKDH), the flux-generating step of BCAA catabolism, is tightly regulated by re
Externí odkaz:
https://doaj.org/article/31a9bf404eb54c159a3aaac7eda598db
Autor:
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Bienvenu Yogolelo Asani, Toni Lubala Kasole, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, François Tshilombo Katombe, Koenraad Devriendt
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. We here describe the clinical and genetic features and prognosis observed in a newborn with trisomy 13 from Central Africa. He presented
Externí odkaz:
https://doaj.org/article/ca5e55f6f53e4ca99a2f71a58d4b8f60