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Akademický článek

Genetic and phenotypic presentation of Usher syndrome - a case report

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

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Akademický článek

The diagnosis of Beckwith-Wiedemann syndrome in a child and psychological implications to parents – A case report

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

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Akademický článek

Neurofibromatosis type 1 – A clinical case report and management review

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)

Externí odkaz: https://doaj.org/article/8bc1a5d5c5714643bd41121dc910d626

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Akademický článek

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 organ in the body, leading to debilitating effects. CLINICAL CASE: We present a case of an 18-year-old girl with NF1. The disease onset started in childhood at the age of 3 years with the appearance of hyperpigmented skin macules. Her mother also presented with multiple nodules on the face and trunk, and her little brother was reported to have disseminated macules. She had poor performance at school and delayed menses. The diagnosis of NF-1 was made, and a multidisciplinary team was involved in management of the patient CONCLUSION: Although genetic testing and confirmation are available, NF1 remains a clinical diagnosis and requires management by multidisciplinary team

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

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Akademický článek

Diagnosis of Treacher-Collins Syndrome: The role of the multidisciplinary team in patient management and family genetic counseling

Autor: B. Tuyishimire, H. Irere, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutarama, C. Nsanzabaganwa, L. Mutesa

Publikováno v: Rwanda Medical Journal, Vol 79, Iss 4 (2022)

Externí odkaz: https://doaj.org/article/52e989ce09e7439d9e5934780ffd599a

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THE PREVALENCE AND RISK FACTORS ASSOCIATED WITH TYPE 2 DIABETIC RETINOPATHY IN RWANDA

Autor: T.N. Kiama, A. Niyodusenga, C. Muhizi, F. Bukachi

Publikováno v: International Journal of Advanced Research. 9:402-410

Objective: To determine the prevalence and risk factors associated with type 2 diabetic retinopathy in Rwanda. Methods: A case-control study was conducted from January to September 2019 in four hospitals within the Republic of Rwanda. Type 2 diabetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f2208e85c1ac646ec67c72da4c7d8ee8
https://doi.org/10.21474/ijar01/13559

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THE PREVALENCE AND RISK FACTORS ASSOCIATED WITH TYPE 2 DIABETIC RETINOPATHY IN RWANDA

Autor: A. Niyodusenga, T.N. Kiama, C. Muhizi and F. Bukachi

Objective:To determine the prevalence and risk factors associated with type 2 diabetic retinopathy in Rwanda. Methods:A case-control study was conducted from January to September 2019 in four hospitals within the Republic of Rwanda. Type 2 diabetic p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e4f19f031f0a390e2eb2818fca585f01

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Evaluation of risk factors associated with nephropathy in type 2 diabetic patients in Rwanda

Autor: A. Niyodusenga, F. O. Bukachi, T. N. Kiama, C. Muhizi

— Background: Diabetic nephropathy is an emerging clinical and public problem and is related with poor outcomes such as heart failure, and end stage renal disease. In the Rwanda countryside there are no recent studies on renal complications. Object

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2772ff36255d2f4e4803bfe0a8d6e9b0

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