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2 results on '"Eva S Lachmann"'

1. Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation

Author

Luca Mautone, Simon Dulz, and Eva S Lachmann

Subjects
Male, Heterozygote, Pathology, medicine.medical_specialty, Mutation, Missense, Visual Acuity, Biology, medicine.disease_cause, Feline leukemia virus, Macular Degeneration, chemistry.chemical_compound, medicine, Humans, Juvenile, Child, Gene, Genetics (clinical), Spinocerebellar Degenerations, Whole genome sequencing, Mutation, High-Throughput Nucleotide Sequencing, Membrane Transport Proteins, Retinal, Macular dystrophy, biology.organism_classification, POSTERIOR COLUMN ATAXIA, Ophthalmology, Phenotype, chemistry, Pediatrics, Perinatology and Child Health, Receptors, Virus
Abstract

The introduction and falling costs of whole genome sequencing has identified a wide spectrum of causative genes in the field of inherited retinal dystrophies.FLVCR1 (Feline Leukemia Virus Subgroup ...

Published
2021

2. Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries

Author

Tero Kivelä, Marina Nikitovic, Dalia Krivaitiene, Tamar Kardava, Stefan Seregard, Kristína Husáková, Fousseyni Traore, Claude Moreira, Vera Yarovaya, Donjeta B. Alia, Chatonda Manda, Mariana Kruger, Ghislaine Obono-Obiang, Argentino A. Almeida, Nevyana V. Veleva-Krasteva, Petra Ritter-Sovinz, Bekim Tateshi, Dupe S Ademola-Popoola, Sanja Perić, Oluyemi Fasina, Jennifer Geel, Steen F Urbak, Grace Ssali, Katsiaryna Zhilyaeva, Nieves Martín Begue, Aemero A. Mengesha, Gerald Msukwa, Larisa Naumenko, Monica D. Dragomir, Gabrielle C. Bouda, P. Kemilev, Henry Nkumbe, Amany M. Ali, Slobodanka Latinović, Amaria Boumedane, Ido Didi Fabian, Jaume Català-Mora, Walentyna Balwierz, Theodora Hadjistilianou, Marlies Hummlen, Laila Hessissen, Shelley J. Biddulph, Vesna R. Ilic, Okwen M. Muyen, Michael Capra l, Edoardo Midena, Shehu U. Abdullahi, Ruzanna Papyan, Allen Foster, Annette C. Moll, Laurence Desjardins, Covadonga Bascaran, Sónia Silva, Ahmed A. Mohamedani, Krzysztof Cieslik, Naama Keren-Froim, Milo van Hoefen Wijsard, Mahmoud M. Elzembely, Marchelo Matua, Sidi Sidi Cheikh, Charlotta All-Eriksson, Ana Fernández-Teijeiro, Furahini G. Mndeme, Karin Lecuona, David Garcia Aldana, Katarzyna Pawinska-Wasikowska, Maja Beck Popovic, Léa Raobela, Vladimir Neroev, Remezo Philbert, Kareem Olatunbosun Musa, Gita Naidu, Mutale Nyaywa, Rolande L. Kabore, Shirley Sharabi, Erika Maka, Abubakar Kalinaki, Alaa Elhaddad, Charlotte Wolley Dod, Stanislava Hederová, Jenny M. Yanga, Nissrine Bennani Guebessi, Helen Jenkinson, Sally Painter, Russo Ida, Werner Wackernagel, Harba Tyau-Tyau, Honorio Barranco, Sadik Taju Sherief, Diriba F. Hordofa, Jonathan J. Pons, Bénédicte Brichard, David K Stones, Guilherme Castela, S.V. Saakyan, Peter Osei-Bonsu, Amal M. Elbahi, Zelalem Gizachew, Codruta Comsa, Ali Bala Umar, Mussagy M. Riheia, Manca Tekavčič Pompe, Elhassan Abdallah, Noa Kapelushnik, Sadiq Hassan, Magritha Du Bruyn, Rose Atsiaya, Robert M Lukamba, Tomáš Kepák, Freddy B. Mbumba, Karel Svojgr, Asmaa El Kettani, Branka Stirn Kranjc, Monika Csóka, Norbert Bornfeld, Pavel Pochop, Sonsoles San Roman Pacheco, Silvia Alarcón Portabella, Amelia D.C. Wime, Ngozi C Oguego, Keith M. Waddell, Nathalie Cassoux, Dina Elgalaly, Eva Biewald, Fatoumata Sylla, Pernille Axel Gregersen, Hamzah Mustak, Lamis Al Harby, Ada Aghaji, Othman Ao Ziko, Sharon Blum, Theophile B Amani Kabesha, Nick Astbury, Rokia C. Berete, Andrew W. Stacey, V.G. Polyakov, Kangwa I. Muma, Marianna Boehme, Vivian Paintsil, Richard Bowman, Vera Adobea Essuman, Koffi M. Guedenon, Amina H Wali Nigeria, Julia Balaguer, Maris Viksnins, Ismail Mayet, Tetyana Sorochynska, Patrick De Potter, Alketa Tandili, Lesia Lysytsia, Tatiana L Ushakova, Judy Schoeman, Sandra Valeina, Moawia Mohammed Ali Elhassan, Moira Gandiwa, Alice Kyara, M. Ashwin Reddy, Livia Lumbroso, Isac V. Da Gama, Marcia Zondervan, Zaza Khotenashvili, Hédi Bouguila, Azza Ma Said, Nadia Bobrova, Faraja S. Chiwanga, Christina Stathopoulos, Alan Davidson, Sarra Benmiloud, Francis L. Munier, Mayuri Makan, Eva S Lachmann, Gevorg Tamamyan, Romanzo Antonino, Ibrahim O. Matende, Guillermo Chantada, AO Adio, Jess Elio Kosh Komba Palet, Manoj Parulekar, Luisa Paiva, Trish A. Scanlan, Nir Gomel, Khalifa M. Alsawidi, Artur Klett, Violeta Chernodrinska, Ekhtelbenina Zein, Mandeep S. Sagoo, Sahadatou Adamou Boubacar, A. Oscar, Raffaele Parrozzani, McHikirwa S. Msina, David Reynders, Elizabeth D Nkanga, Gabriela Murgoi, Andrey A. Yarovoy, Dahiru Ribadu, PD Wade, Amadou I. Alfa Bio, Lorna Renner, Ted Grimbert A. Evina, Paule Aïda Ndoye Roth, Maria G. Correa Llano, Tuyisabe Theophile, and Andrzej Olechowski

Subjects
medicine.medical_specialty, Referral, Epidemiology, Retinal Neoplasms, Medizin, Disease, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Risk Factors, Neoplasia, Medicine, Humans, business.industry, Retinoblastoma, Extraocular Retinoblastoma, medicine.disease, eye diseases, Sensory Systems, 3. Good health, Ophthalmology, Cross-Sectional Studies, 030220 oncology & carcinogenesis, Africa, 030221 ophthalmology & optometry, Health education, Residence, Presentation (obstetrics), Epidemiology, Neoplasia, business, human activities, Demography
Abstract

BackgroundThe travel distance from home to a treatment centre, which may impact the stage at diagnosis, has not been investigated for retinoblastoma, the most common childhood eye cancer. We aimed to investigate the travel burden and its impact on clinical presentation in a large sample of patients with retinoblastoma from Africa and Europe.MethodsA cross-sectional analysis including 518 treatment-naïve patients with retinoblastoma residing in 40 European countries and 1024 treatment-naïve patients with retinoblastoma residing in 43 African countries.ResultsCapture rate was 42.2% of expected patients from Africa and 108.8% from Europe. African patients were older (95% CI −12.4 to −5.4, pConclusionsFewer than half the expected number of patients with retinoblastoma presented to African referral centres in 2017, suggesting poor awareness or other barriers to access. Despite the relatively shorter distance travelled by African patients, they presented with later-stage disease. Health education about retinoblastoma is needed for carers and health workers in Africa in order to increase capture rate and promote early referral.

Published
2020

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