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1.
Ambroise Martin 《Cahiers de Nutrition et de Diététique》2007,42(2):97-102
Nutritional reference intakes are build to cover the nutritional needs of the majority of the “normal“ population in a “normal“ environment. Much work is needed to define references for extreme situations. Beside extreme situations such as pathology, under or over nutrition, the study of other extreme conditions could lead to useful insights in pathophysiological mechanisms. Man adaptation to cold temperatures, altitude or spatial flights leads to the development of experimental models, the utility of which goes far beyond the studied conditions: the regulation of appetite and of the metabolisms of proteins, carbohydrates or calcium provides interesting examples. 相似文献
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Cedrik Tekendo‐Ngongang Sophie Dahoun Séraphin Nguefack Isabelle Moix Stefania Gimelli Huguette Zambo Michael A. Morris Frédérique Sloan‐Béna Ambroise Wonkam 《American journal of medical genetics. Part A》2020,182(4):619-622
MECP2 duplication syndrome (MDS; OMIM 300260) is an X‐linked neurodevelopmental disorder caused by nonrecurrent duplications of the Xq28 region involving the gene methyl‐CpG‐binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intellectual disability, very poor‐to‐absent speech, progressive spasticity, seizures, and recurrent infections. The condition is 100% penetrant in males, with observed variability in phenotypic expression within and between families. Features of MDS in individuals of African descent are not well known. Here, we describe a male patient from Cameroon, with MDS caused by an inherited 610 kb microduplication of Xq28 encompassing the genes MECP2, IRAK1, L1CAM, and SLC6A8. This report supplements the public data on MDS and contributes by highlighting the phenotype of this condition in affected individuals of African descent. 相似文献
3.
Rabia Faridi Rizwan Yousaf Shoujun Gu Sayaka Inagaki Amy E. Turriff Keith Pelstring Bin Guan Amelia Naik Andrew J. Griffith Samuel Mawuli Adadey Elvis Twumasi Aboagye Gordon A. Awandare Robert J. Morell Ekaterini Tsilou Amanda G. Noyes Laura A. G. Sulmonte Ambroise Wonkam Isabelle Schrauwen Suzanne M. Leal Hela Azaiez Carmen C. Brewer Sheikh Riazuddin Robert B. Hufnagel Michael Hoa Wadih M. Zein J. Karl de Dios Thomas B. Friedman 《Clinical genetics》2023,103(6):699-703
4.
OBJECTIVE: To determine the composition of caculi and the predisposing factors for stone nucleation and growth in children from two regions of Cameroon. METHODS: This was a cross-sectional study involving 21 children, 17 from the northern and 4 from the southern region, over a 6-year period. Data on age, diet, residence, clinical presentation, location of stone, and results of stone analysis were collated following a preestablished proforma. A computerized analysis of the data was carried out. The constituents of stone sections and nidus were assembled so as to determine the principal causes of stone nucleation and growth. RESULTS: Pediatric urolithiasis was more common in the northern Sahelian belt of Cameroon. Males and rural dwellers were more commonly affected. Endemic (bladder) stone disease was found in the majority of the patients. All stones were mixed. The most frequent constituents of the stones were ammonium urate, struvites, and whewellite in descending order of percentage mean volume per stone. The nidus was available for study in only 10 stones, and its composition revealed heterogeneity of causes of nucleation. The commonest cause for stone formation and growth were infection and hyperuricosuria (malnutrition). CONCLUSIONS: Pediatric bladder stone disease is not uncommon in northern Cameroon. Many factors combined to predispose to stone nucleation and growth, but the level of socioeconomic development was preponderant. Stone composition indicated that urolithiasis in children was a heterogeneous disorder, but hyperuricosuria, insufficient diuresis, and infection associated with malnutrition seemed to be the most common causes. 相似文献
5.
Jean Jacques Noubiap Mazou N. Temgoua Ronni Tankeu Joel Noutakdie Tochie Ambroise Wonkam Jean Joël Bigna 《Thrombosis journal》2018,16(1):27
Background
Globally, sickle cell disease (SCD) is one of the most common haemoglobinopathy. Considered a public health problem, it leads to vessel occlusion, blood stasis and chronic activation of the coagulation system responsible for vaso-occlussive crises and venous thromboembolism (VTE) which may be fatal. Although contemporary observational studies suggest a relationship between SCD or sickle trait (SCT) and VTE, there is lack of a summary or meta-analysis data on this possible correlation. Hence, we propose to summarize the available evidence on the association between SCD, SCT and VTE including deep vein thrombosis (DVT) and pulmonary embolism (PE).Methods
We searched PubMed and Scopus to identify all cross-sectional, cohort and case-control studies reporting on the association between SCD or SCT and VTE, DVT or PE in adults or children from inception to April 25, 2017. For measuring association between SCD or SCT and VTE, DVT, or PE, a meta-analysis using the random-effects method was performed to pool weighted odds ratios (OR) of risk estimates.Results
From 313 records initially identified from bibliographic databases, 10 studies were eligible and therefore included the meta-analysis. SCD patients had significantly higher risk for VTE (pooled OR 4.4, 95%CI 2.6–7.5, p?<?0.001), DVT (OR 1.1, 95% CI 1.1–1.2, p?<?0.001) and PE (pooled OR 3.7, 95% CI 3.6–3.8, p?<?0.001) as compared to non SCD-adults. A higher risk of VTE (OR 33.2, 95% CI 9.7–113.4, p?<?0.001) and DVT (OR 30.7, 95% CI 1.6–578.2, p =?0.02) was found in pregnant or postpartum women with SCD as compared to their counterparts without SCD. Compared to adults with SCT, the risk of VTE was higher in adults with SCD (pooled OR 3.1, 95% CI 1.8–5.3, p?<?0.001), and specifically in SCD pregnant or postpartum women (OR 20.3, 95% CI 4.1–102, p?=?0.0003). The risk of PE was also higher in adults with SCD (OR 3.1, 95% CCI 1.7–5.9, p?=?0.0004) as compared to those with SCT. The risk of VTE was higher in individuals with SCT compared to controls (pooled OR 1.7, 95% CI 1.3–2.2, p?<?0.0001), but not in pregnant or postpartum women (OR 0.9, 95% CI 0.3–2.9, p?=?0.863). Compared to controls, SCT was associated with a higher risk of PE (pooled OR 2.1, 95% CI 1.2–3.8, p?=?0.012) but not of DVT (pooled OR 1.2, 95% CI 0.9–1.7, p?=?0.157).Conclusion
Individuals with SCD, especially pregnant or postpartum women, might have a higher risk of VTE compared to the general population. SCT might also increases the risk of VTE. However, currently available data are not sufficient to allow a definite conclusion. Further larger studies are needed to provide a definitive conclusion on the association between SCD, SCT and VTE.6.
Ambroise Wonkam Jean Jacques N. Noubiap François Djomou Karen Fieggen Richard Njock Geneviève Bengono Toure 《European journal of medical genetics》2013,56(1):20-25
BackgroundSevere hearing loss is a global problem affecting particularly developing countries. There is scarcity of recent published data on the epidemiology of childhood deafness in sub-Saharan Africa.ObjectiveTo determine the etiological profile of severe childhood deafness in Cameroon.MethodsProspective cross-sectional study of patients with a severe hearing loss that started before the age of 15 years. Detailed family and medical history was obtained; careful clinical, otological and audiological examinations were performed.ResultsA total of 582 patients with a severe hearing loss were examined. Prelingual deafness accounted for 75.1% (n = 437), with a mean age at medical diagnosis of 3.3 ± 1.2 years. This late presentation may be explained by limited parental awareness of signs raising suspicion of hearing loss, poor access to health care and the absence of neonatal screening for hearing loss in Cameroon. Identified genetic causes accounted for 14.8% (n = 86), putative environmental causes for 52.6% (n = 306) and unknown causes for 32.6% (n = 190). Amongst Genetic causes, the syndromic hearing loss accounted for 13.1% (n = 12) of cases, the rest being non syndromic (n = 74). Consanguineous families accounted for 5.7% (n = 33) of the whole sample, and 15.1% (n = 13) of genetic cases. No union between deaf parents was observed.ConclusionThese data highlight the possible predominance of putative environmental causes of childhood deafness in Cameroon, and emphasize the need for improved policies for prevention of infectious diseases and for neonatal hearing screening. However, further molecular analyses and targeted CT scan investigations are required to more accurately gauge the contribution of genetics etiologies. 相似文献
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Aida S. Badiane Ambroise D. Ahouidi Tandakha Dieye Daouda Ndiaye Ousmane Sarr Omar Ndir Souleymane Mboup Manoj T. Duraisingh 《American journal of hematology》2010,85(4):234-237
Variability in the ability of the malaria parasite Plasmodium falciparum to invade human erythrocytes is postulated to be an important determinant of disease severity. Both the parasite multiplication rate and erythrocyte selectivity are important parameters that underlie such variable invasion. We have established a flow cytometry‐based method for simultaneously calculating both the parasitemia and the number of multiply‐infected erythrocytes. Staining with the DNA‐specific dye SYBR Green I allows quantitation of parasite invasion at the ring stage of parasite development. We discuss in vitro and in vivo applications and limitations of this method in relation to the study of parasite invasion. Am. J. Hematol., 2010. © 2010 Wiley‐Liss, Inc. 相似文献
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