Zobrazeno 1 - 10
of 311
pro vyhledávání: '"L. Mutesa"'
Autor:
C. Muhinda, J. Kabahizi, T. Bazatsinda, N. Dukuze, C. Nsanzabaganwa, G. Murenzi, M. Yotebieng, B. Bagaya, L. Mutesa
Publikováno v:
Rwanda Medical Journal, Vol 80, Iss 3, Pp 57-64 (2023)
INTRODUCTION: Healthcare workers (HCWs) are at high risk of acquiring hepatitis B viral (HBV) infection through occupational exposure to blood or body fluids. However, the rates of non- responders after HBV vaccination among HCWs are not well documen
Externí odkaz:
https://doaj.org/article/4a8d708beea142549573d93e6c2d607d
Publikováno v:
Rwanda Medical Journal, Vol 80, Iss 2, Pp 60-68 (2023)
INTRODUCTION: We focused on a sample size of 141 unrelated Rwandan persons to genotype 21 STR loci that were relied up in establishing allele frequencies, heterozygosity and power of exclusion. This study aims at exploring allele frequencies on a r
Externí odkaz:
https://doaj.org/article/e807cb9010654f4c84a6263c7387fa1d
Autor:
N. Dukuze, P. Sesonga, B. Iradukunda, H. irere, J. Ndinkabandi, C. Nsanzabaganwa, F. Rutagarama, C. Kagimbana, A. Uwineza, L. Mutesa
Publikováno v:
Rwanda Medical Journal, Vol 80, Iss 2, Pp 8-12 (2023)
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about 1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, >2 neurofibromas of
Externí odkaz:
https://doaj.org/article/48e6c2f0141d476a89f3f80d3c4adac1
Autor:
N. Dukuze, E. Uwibambe, P. Sesonga, J. Niyongere, B. Tuyishimire, A. Urungwiro, J. Ndinkabandi, A. Rwamatwara, S. Niyoyita, G. Isingizwe, J. Mutamuliza, C. Nsanzabaganwa, J. Bukuru, F. Rutagarama, O. Karangwa, A. Ndatinya, C. Muhizi, L. Mutesa
Publikováno v:
Rwanda Medical Journal, Vol 80, Iss 4 (2024)
Usher syndrome is a genetic, clinically heterogeneous condition characterized by sensorineural hearing loss, progressive retinal degeneration, and vestibular dysfunction. There are three phenotypically recognizable types of Usher syndrome. Individual
Externí odkaz:
https://doaj.org/article/aa3217732de745fdad0923d22316ac00
Autor:
B. Tuyishimire, H. Irere, N. Dukuze, B. Iradukunda, C. Muhizi, O. R. Karangwa, F. Rutagarama, C. Nsanzabaganwa, L. Mutesa
Publikováno v:
Rwanda Medical Journal, Vol 80, Iss 1, Pp 5-8 (2023)
INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings. Therefore, the aim of this work is to present different phenotypic features of this syndrome. CA
Externí odkaz:
https://doaj.org/article/36dcda8ce2114623a50b6ae23a608367
Autor:
N. Dukuze, B. Tuyishimire, H. Irere, B. Iradukunda, J. Ndinkabandi, C. Nsanzabaganwa, J. Mushingantahe, L. Mutesa
Publikováno v:
Rwanda Medical Journal, Vol 80, Iss 1, Pp 9-13 (2023)
INTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural chromosomal abnormality is an important cause. An unbalanced karyot
Externí odkaz:
https://doaj.org/article/ed1943e47dd542e5a58e3288142293c6
Autor:
C. Muhizi, H. Irere, B. Tuyishimire, A. Ndatinya, O. R. Karangwa, F. Rutagarama, C. Nsanzabaganwa, L. Mutesa
Publikováno v:
Rwanda Medical Journal, Vol 79, Iss 4, Pp 5-8 (2022)
INTRODUCTION: Neurofibromatosis Type 1 (NF1) or Von Recklinghausen’s disease, is a rare genetic disease characterized by multiple benign tumors of nerves and skin (neurofibromas), and skin decorations. However, it is multisystem and can affect each
Externí odkaz:
https://doaj.org/article/8bc1a5d5c5714643bd41121dc910d626
Autor:
B. Tuyishimire, H. Irere, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutagarama, C. Nsanzabaganwa, L. Mutesa
Publikováno v:
Rwanda Medical Journal, Vol 79, Iss 4, Pp 9-12 (2022)
INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions. Thus, this
Externí odkaz:
https://doaj.org/article/a8b0d83bb7e44a649e62e7c29016d74c
Autor:
B. Tuyishimire, H. Irere, F. Rutagarama, A. Ndatinya, O.R. Karangwa, A. Gasana, C. Nsanzabaganwa, L. Mutesa
Publikováno v:
Rwanda Medical Journal, Vol 79, Iss 3, Pp 9-13 (2022)
INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD. CASES: We revi
Externí odkaz:
https://doaj.org/article/70c6c96bd5134c96a98fb0a9e525e805
Publikováno v:
Rwanda Medical Journal, Vol 79, Iss 2, p 7-10 (2022)
INTRODUCTION: Turner syndrome is a frequent chromosome disorder characterized by short stature, gonadal dysgenesis and multisystem diseases associated with high morbidity and reduced life expectancy CASE: We reviewed an 18 month old patient who pres
Externí odkaz:
https://doaj.org/article/7d505807b7964788a36528b56652cbc9