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Article ; Online: Could Africa be the future for genomics research?

Lombard, Zané / Landouré, Guida

2023 Volume 614, Issue 7946, Page(s) 30–33

MeSH term(s)	Africa ; Genomics/trends ; Genetics, Medical ; Humans ; Black People/genetics
Language	English
Publishing date	2023-01-27
Publishing country	England
Document type	Journal Article
ZDB-ID	120714-3
ISSN	1476-4687 ; 0028-0836
ISSN (online)	1476-4687
ISSN	0028-0836
DOI	10.1038/d41586-023-00222-x
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Zs.A 26: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Un cas rare de maladie de Horton sans syndrome inflammatoire dans le Service de Neurologie du CHU du Point G, Bamako, Mali.

Landouré, Guida / Yalcouyé, Abdoulaye / Touré, Sidi / Coulibaly, Thomas / Makadji, Mahambé / Guinto, Cheick O

Le Mali medical

2024 Volume 36, Issue 4, Page(s) 79–80

Abstract: Horton's disease is the most common inflammatory disease of the vessels after the age of 50 years. We report here the caseof a 64-year-old male, who presented a chronic frontal headache resistant to usual analgesics. Physical examination found pain on ... ...

Title translation	A rare case of Horton's disease without inflammatory syndrome in the Department of Neurology of the Teaching Hospital of Point G, Bamako, Mali.
Abstract	Horton's disease is the most common inflammatory disease of the vessels after the age of 50 years. We report here the caseof a 64-year-old male, who presented a chronic frontal headache resistant to usual analgesics. Physical examination found pain on bitemporal pressure, a slight induration of temporal arteries and a bilateral decreased temporal pulse. Biological inflammatory testing was normal. However, Doppler ultrasound revealed bilateral intimal infiltration of the temporal artery, supporting the diagnosis of Horton's disease. Put on corticoids, headaches were completely resolved.
Language	French
Publishing date	2024-01-10
Publishing country	Mali
Document type	English Abstract ; Journal Article
ZDB-ID	2502651-3
ISSN	1993-0836 ; 1993-0836
ISSN (online)	1993-0836
ISSN	1993-0836
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Article ; Online: Rare Disease Day: Amplifying voices, advocating hope.

Cederroth, Helene / Gahl, William A / Landouré, Guida / Zhang, Shuyang / Bolz-Johnson, Matt

Med (New York, N.Y.)

2024 Volume 5, Issue 2, Page(s) 103–105

Abstract: Every year on February 28, the global community comes together to observe Rare Disease Day, a day dedicated to raising awareness and understanding for the millions of individuals who live with rare disorders. While individual rare diseases may seem ... ...

Abstract	Every year on February 28, the global community comes together to observe Rare Disease Day, a day dedicated to raising awareness and understanding for the millions of individuals who live with rare disorders. While individual rare diseases may seem uncommon, their collective impact is significant, affecting the lives of countless families and communities worldwide. This day serves as a crucial platform to amplify the voices of those affected, advocate for increased research and support, and inspire hope for a future where rare diseases can be prevented, diagnosed earlier, and effectively treated.
MeSH term(s)	Humans ; Rare Diseases/diagnosis ; Rare Diseases/epidemiology ; Rare Diseases/therapy
Language	English
Publishing date	2024-02-10
Publishing country	United States
Document type	Journal Article
ISSN	2666-6340
ISSN (online)	2666-6340
DOI	10.1016/j.medj.2024.01.003
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Article: A rare case of thyrotoxic periodic paralysis revealing Graves' disease in a young Malian.

Dembélé, Mohamed Emile / Yalcouyé, Abdoulaye / Cissoko, Mamadou / Cissé, Lassana / Guinto, Cheick Oumar / Landouré, Guida

Clinical case reports

2024 Volume 12, Issue 2, Page(s) e8527

Abstract: Sporadic thyrotoxic periodic paralysis (TPP) is a rare muscle disorder that manifests with abrupt muscle weakness and hypokalemia associated with hyperthyroidism. It is mostly reported in the Asian population, and rare in Caucasians. Only few cases have ... ...

Abstract	Sporadic thyrotoxic periodic paralysis (TPP) is a rare muscle disorder that manifests with abrupt muscle weakness and hypokalemia associated with hyperthyroidism. It is mostly reported in the Asian population, and rare in Caucasians. Only few cases have been reported in people with black ancestry. Here, we report a rare case of thyrotoxic periodic paralysis revealing Graves' disease in a young Malian. A 17-year-old man was admitted in the Neurology clinic with rapid proximal tetraplegia that started after strenuous physical activities at the school. Clinical examination confirmed the proximal weakness. In addition, he had bilateral ptosis, exophthalmia, and horizontal ophthalmoplegia. Laboratory testing showed normal serum potassium and creatinine, low calcium and TSH levels. However, CK, FT4, thyroid stimulating hormone antibody, and acetylcholine receptor antibody levels were high. In addition, electrocardiogram was normal while thyroid Doppler-ultrasound showed heterogeneous, hypoechogenic, hypertrophic, and hyper vascularized gland. Patient had completely recovered his limb weakness within the following hours with symptomatic treatment. The clinical findings were consistent with Graves' disease, and he was put on Neomercazole. He did not present another episode of paralysis after 4-years of follow up. This is a first case of thyrotoxic periodic paralysis reported in Mali and one of the rare cases in sub-Saharan Africa. Despite its scarcity, all patients with acute weakness consecutive to effort, whether recurring or not, should be screened for TPP.
Language	English
Publishing date	2024-02-22
Publishing country	England
Document type	Case Reports
ZDB-ID	2740234-4
ISSN	2050-0904
ISSN	2050-0904
DOI	10.1002/ccr3.8527
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Article ; Online: Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.

Yalcouyé, Abdoulaye / Esoh, Kevin / Guida, Landouré / Wonkam, Ambroise

Journal of the peripheral nervous system : JPNS

2022 Volume 27, Issue 2, Page(s) 100–112

Abstract: Background and aims: Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy characterised by a high clinical and genetic heterogeneity. While most cases were described in populations with Caucasian ancestry, genetic ... ...

Abstract	Background and aims: Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy characterised by a high clinical and genetic heterogeneity. While most cases were described in populations with Caucasian ancestry, genetic research on CMT in Africa is scant. Only a few cases of CMT have been reported, mainly from North Africa. The current study aimed to summarise available data on CMT in Africa, with emphasis on the epidemiological, clinical, and genetic features. Methods: We searched PubMed, Scopus, Web of Sciences, and the African Journal Online for articles published from the database inception until April 2021 using specific keywords. A total of 398 articles were screened, and 28 fulfilled our selection criteria. Results: A total of 107 families totalling 185 patients were reported. Most studies were reported from North Africa (n = 22). The demyelinating form of CMT was the commonest subtype, and the phenotype varied greatly between families, and one family (1%) of CMT associated with hearing impairment was reported. The inheritance pattern was autosomal recessive in 91.2% (n = 97/107) of families. CMT-associated variants were reported in 11 genes: LMNA, GDAP1, GJB1, MPZ, MTMR13, MTMR2, PRX, FGD4/FRABIN, PMP22, SH3TC2, and GARS. The most common genes reported are LMNA, GDAP1, and SH3TC2 and have been found mostly in Northern African populations. Interpretation: This study reveals that CMT is not rare in Africa, and describes the current clinical and genetic profile. The review emphasised the urgent need to invest in genetic research to inform counselling, prevention, and care for CMT in numerous settings on the continent.
MeSH term(s)	Africa/epidemiology ; Charcot-Marie-Tooth Disease/epidemiology ; Charcot-Marie-Tooth Disease/genetics ; Genes, Recessive ; Humans ; Microfilament Proteins/genetics ; Mutation ; Phenotype ; Proteins/genetics
Chemical Substances	FGD4 protein, human ; Microfilament Proteins ; Proteins
Language	English
Publishing date	2022-04-05
Publishing country	United States
Document type	Journal Article ; Review ; Systematic Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1364009-4
ISSN	1529-8027 ; 1085-9489
ISSN (online)	1529-8027
ISSN	1085-9489
DOI	10.1111/jns.12489
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Article ; Online: Stigma in African genomics research: Gendered blame, polygamy, ancestry and disease causal beliefs impact on the risk of harm.

de Vries, Jantina / Landouré, Guida / Wonkam, Ambroise

Social science & medicine (1982)

2020 Volume 258, Page(s) 113091

Abstract: A recurring concern in genomics research is the possibility that it could lead to stigma for participants, their families and the population groups they belong to. Little evidence exists to explain how and when this ought to be a concern in genomics ... ...

Abstract	A recurring concern in genomics research is the possibility that it could lead to stigma for participants, their families and the population groups they belong to. Little evidence exists to explain how and when this ought to be a concern in genomics research in Africa whilst there is growing international evidence drawing into question the direct link between stigma and genetics. In this paper, we interrogate practical instances from African genomics research where stigma was identified as a concern in an attempt to nuance and refine accounts of when stigma should be considered as an ethical issue. The paper describes examples involving gendered blame, polygamy, beliefs in supernatural disease causation and sensitive information about group lineage. We propose that the concern may not be about stigma so much as broader research-related harm, including for instance reputational harm to population groups. Furthermore, we propose to shift the analytical gaze from establishing causal relationships to exploring the intersection of genomics with pre-existing stigma. Finally, we emphasize the importance of ensuring genomics researchers are culturally competent, meaning able to recognise when cultural factors impact on the possibility that genomics research could cause harm.
MeSH term(s)	Africa ; Genomics ; Humans ; Marriage ; Research Personnel ; Social Stigma
Language	English
Publishing date	2020-05-30
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	4766-1
ISSN	1873-5347 ; 0037-7856 ; 0277-9536
ISSN (online)	1873-5347
ISSN	0037-7856 ; 0277-9536
DOI	10.1016/j.socscimed.2020.113091
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Article: A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.

Kotioumbe, Mahamadou / Maiga, Alassane B / Bamba, Salia / Cissé, Lassana / Diarra, Salimata / Diallo, Salimata / Yalcouyé, Abdoulaye / Kané, Fousseyni / Diallo, Seybou H / Coulibaly, Dramane / Coulibaly, Thomas / Dembélé, Kékouta / Maiga, Boubacar / Guinto, Cheick O / Landouré, Guida

Research square

2024

Abstract: Background: GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the : Case presentation: A 19-year-old male patient from a consanguineous family of Bambara ethnicity was seen for progressive walking difficulty and frequent ... ...

Abstract	Background: GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the Case presentation: A 19-year-old male patient from a consanguineous family of Bambara ethnicity was seen for progressive walking difficulty and frequent falls. Neurological examination found distalmuscle weakness and atrophy and reduced tendon reflexes in four limbs. Electroneuromyography (ENMG) showed an axonal neuropathy pattern with reduced distal motor amplitudes. Charcot-Marie-Tooth (CMT) gene panel testing (Medical Neurogenetics LLC, Atlanta, GA) was negative. However, whole exome sequencing (WES) revealed a novel biallelic variant in Conclusion: This study reports a novel variant in the
Language	English
Publishing date	2024-03-07
Publishing country	United States
Document type	Preprint
DOI	10.21203/rs.3.rs-4004982/v1
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Article ; Online: The First Case of Huntington's Disease like 2 in Mali, West Africa.

Bocoum, Abdoulaye / Ouologuem, Madani / Cissé, Lassana / Essop, Fahmida / Dit Papa Coulibaly, Souleymane / Botha, Nadine / Cissé, Cheick A K / Dit Baneye Maiga, Alassane / Krause, Amanda / Landouré, Guida

Tremor and other hyperkinetic movements (New York, N.Y.)

2024 Volume 14, Page(s) 15

Abstract: Background: Huntington's disease like 2 (HDL2) has been reported exclusively in patients with African ancestry, mostly originating from South Africa.: Case report: We report three patients in Mali including a proband and his two children who have ... ...

Abstract	Background: Huntington's disease like 2 (HDL2) has been reported exclusively in patients with African ancestry, mostly originating from South Africa. Case report: We report three patients in Mali including a proband and his two children who have been examined by neurologists and psychiatrists after giving consent. They were aged between 28 and 56 years old. Psychiatric symptoms were predominant in the two younger patients while the father presented mainly with motor symptoms. Genetic testing identified a heterozygous 40 CTG repeat expansion in the Junctophilin-3 (JPH3) gene in all three patients. Discussion: This study supports the hypothesis that HDL2 may be widely spread across Africa. Highlights: We report here the first case of HDL2 in West Africa, suggesting that HDL2 is widely spread across African continent, and increasing access to genetic testing could uncover other cases.
MeSH term(s)	Child ; Humans ; Adult ; Middle Aged ; Mali ; Huntington Disease/genetics ; Family ; Genetic Testing ; Heterozygote
Language	English
Publishing date	2024-04-02
Publishing country	England
Document type	Case Reports
ZDB-ID	2674453-3
ISSN	2160-8288 ; 2160-8288
ISSN (online)	2160-8288
ISSN	2160-8288
DOI	10.5334/tohm.859
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Article: A novel de novo variant in the

Cissé, Lassana / Yalcouyé, Abdoulaye / Touré, Kadidia Oumar / Coulibaly, Youlouza / Maiga, Alassane Baneye / Bamba, Salia / Diallo, Dramane / Diarra, Salimata / Taméga, Abdoulaye / Traoré, Oumou / Kotioumbé, Mahamadou / Sangaré, Moussa Aly / Ba, Hamidou Oumar / Simaga, Assiatou / Koné, Fatogoma Issa / Samassekou, Oumar / Koné, Amadou / Guinto, Cheick Oumar / Landouré, Guida

Clinical case reports

2024 Volume 12, Issue 2, Page(s) e8551

Abstract: Key clinical message: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in ... ...

Abstract	Key clinical message: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene. Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes. We report a novel de novo variant in the
Language	English
Publishing date	2024-02-26
Publishing country	England
Document type	Case Reports
ZDB-ID	2740234-4
ISSN	2050-0904
ISSN	2050-0904
DOI	10.1002/ccr3.8551
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Article: An unusual case of Dyke-Davidoff-Masson syndrome revealed by status epilepticus in a Malian patient.

Djimdé, Samba O / Yalcouyé, Abdoulaye / Koïta, Abdou / Samir, Hassana / Kebkiba, Pofinet / Gueli, Chrystelle Awovi / Maïga, Alassane B / Sissoko, Adama S / Landouré, Guida

Clinical case reports

2022 Volume 10, Issue 10, Page(s) e6428

Abstract: The Duke-Davidoff-Masson syndrome (DDMS) is a rare neurological condition with unknown prevalence, globally. To date, <100 cases have been reported worldwide. We report the case of an 18-year-old patient admitted for status epilepticus seizure, and who ... ...

Abstract	The Duke-Davidoff-Masson syndrome (DDMS) is a rare neurological condition with unknown prevalence, globally. To date, <100 cases have been reported worldwide. We report the case of an 18-year-old patient admitted for status epilepticus seizure, and who presented a right hemiparesis, body asymmetry, joints ankylosis, and mental retardation. Brain CT-scan revealed left hemisphere atrophy, skull bone thickening, and hyperpneumatization of the frontal sinuses; all consistent with DDMS. Seizures improved remarkably on Levetiracetam and Valproate. This is the first report of an unusual DDMS in Mali, and the diagnosis delay highlights the challenges for the management of these diseases in resource-limited settings.
Language	English
Publishing date	2022-10-17
Publishing country	England
Document type	Case Reports
ZDB-ID	2740234-4
ISSN	2050-0904
ISSN	2050-0904
DOI	10.1002/ccr3.6428
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