ABSTRACT
INTRODUCTION: Arterial hypertension is a major public health problem in sub-Saharan Africa due to its high frequency and to the cardiovascular risk that it entails. The purpose of this study was to assess the prevalence of clinical and biological risk factors of hypertension in Bamako (Mali). METHODS: We conducted a case-control study, stratified in function of the sex, of 72 participants including 36 patients with hypertension and 36 controls. Twenty-two plasma biochemical parameters have been measured and analyzed using univariate and multivariate tests. RESULTS: Hyperhomocysteinemia was found in 55.6% of women (p = 0.03) and 100% of men (p = 0.007) with hypertension. High NT-proBNP was also found in 16.7% of women (VIP > 1 in multivariate model) and of men with hypertension (p = 0.00006). A good multivariate predictive model (OPLS-DA) was only obtained in women with high blood pressure, with Q2cum = 0.73, attesting severe sexual dimorphism associated with arterial hypertension. This model involved eight parameters whose plasma concentration was modified (homocysteine, NT-proBNP, potassium, urea, blood glucose, sodium, chlorine and total proteins). CONCLUSION: We registered a significant association between hyperhomocysteinemia and arterial hypertension. Therefore, the assay of homocysteine associated with good management would decrease the risk of cardiovascular diseases while improving the quality of life of hypertensive patients.
Subject(s)
Hyperhomocysteinemia/epidemiology , Hypertension/epidemiology , Natriuretic Peptide, Brain/metabolism , Peptide Fragments/metabolism , Quality of Life , Adult , Case-Control Studies , Female , Humans , Male , Mali , Middle Aged , Multivariate Analysis , Risk FactorsABSTRACT
N-acetyl glutamate synthase (NAGS) deficiency is the rarest urea cycle defect presenting as neonatal onset life-threatening hyperammonemia. We report here a family history of severe NAGS deficiency: after the index-case with severe hyperammonemia, one patient benefited from antenatal diagnosis, and from primary care at birth, another one was diagnosed at 2-days and immediately treated with carbaglumic-acid. Finally, we report excellent tolerance to long-term carbaglumic-acid treatment, with no side effects, and healthy neurological and psychomotor development.
ABSTRACT
Cyst nematodes account for substantial annual yield losses in crop production worldwide. Concerns over environmental and health issues due to the use of chemical nematicides mean alternative sustainable and integrated solutions are urgently required. Hatch induction of encysted eggs in the absence of host plants, i.e., 'suicide-hatching,' could be a sustainable alternative in reducing population densities of cyst nematodes in infested soils. Here we examined in situ hatching of encysted eggs of Globodera pallida, Heterodera carotae, and Heterodera schachtii at varying soil depths, following exogenous applications of host root exudates in repeated glasshouse experiments. Cysts were retrieved 30 or 43 days post-incubation depending on the nematode species and assessed for hatching rates relative to the initial number of viable eggs per cyst. Hatching of the potato cyst nematode G. pallida depended on both soil moisture and effective exposure to root exudates, and to a lesser extent on exudate concentration. The carrot cyst nematode H. carotae had over 75% hatched induced by root exudate irrespective of the concentration, with better hatch induction at 20 cm as compared with 10 cm soil depth. Hatching of the beet cyst nematode H. schachtii largely depended on the soil moisture level at constant temperature, rather than the type or concentration of root exudates applied. As a conclusion, exogenously applied host root exudates may play a major role in inducing in situ hatch of encysted eggs of potato and carrot cyst nematodes in the absence of host plant under favorable soil temperature/moisture conditions. To improve such strategy, the characterization of chemical profiles of the root exudate composition and field validation are currently ongoing.
ABSTRACT
Introduction: l'hypertension artérielle est un problème majeur de santé publique en Afrique subsaharienne par sa fréquence élevée et le risque cardiovasculaire qu'elle entraine. L'objectif de cette étude était d'évaluer la prévalence des facteurs de risques cliniques et biologiques de l'hypertension artérielle à Bamako (Mali).Méthodes: il s'agit d'une étude cas-témoin, stratifiée en fonction du sexe, portant sur 72 participants dont 36 hypertendus et 36 contrôles. Vingt-deux paramètres biochimiques plasmatiques ont été mesurés et analysés par des tests univariés et multivariés.Résultats: une hyperhomocystéinémie a été retrouvée chez 55,6% des femmes (p = 0,03) et 100% des hommes (p = 0,007) hypertendus. Le N-terminal pro B-type natriuretic peptide (NT-ProBNP) était également augmenté chez 16,7% des femmes (VIP > 1 dans le modèle multivarié) et des hommes hypertendus (p = 0,00006). Un bon modèle multivarié prédictif (OPLS-DA) a uniquement été obtenu chez les femmes hypertendues, avec un Q2cum = 0,73, attestant ainsi d'un important dimorphisme sexuel associé à l'hypertension artérielle. Ce modèle impliquait huit paramètres dont la concentration plasmatique était modifiée (homocystéine, NT-ProBNP, potassium, urée, glycémie, sodium, chlore et protéines totales).Conclusion: nous avons noté une association significative entre l'hyperhomocystéinémie et l'hypertension artérielle. Par conséquent, le dosage de l'homocystéine associé à une bonne prise en charge diminuerait le risque cardiovasculaire tout en améliorant la qualité de vie des patients hypertendus
Subject(s)
Biochemical Phenomena , Hyperhomocysteinemia , Hypertension , MaliABSTRACT
We report the case of an infant hospitalized for neonatal anoxic ischemia in whom the diagnosis of Alagille syndrome (SAG ; MIM # 118450) was suspected in the presence of major cholestasis, cardiac malformations, suggestive facial dysmorphia, and vertebral and ocular abnormalities. This diagnosis was later confirmed by the detection of a heterozygous pathogenic variant in the gene JAG1, i.e. the gene predominantly responsible for this syndrome with autosomal dominant transmission, which affects about 1 in 30 000 births. The purpose of this presentation is to highlight this relatively unknown syndrome, both from the diagnostic and physiopathological points of view. This clinical case is also an opportunity to discuss pseudo-bisalbuminemia, accidentally discovered in the patient during the exploration of serum proteins by capillary electrophoresis. In total, the medical biologist is directly concerned by the multidisciplinary management of this syndrome, which involves biological perturbances in multiple organs.
Subject(s)
Alagille Syndrome/diagnosis , Alagille Syndrome/pathology , Clinical Laboratory Techniques/methods , Humans , Infant, Newborn , Male , Neonatal ScreeningSubject(s)
Amino Acid Metabolism, Inborn Errors/complications , Brain Diseases/etiology , Glutathione Synthase/deficiency , Hyperammonemia/complications , Malnutrition/complications , Aged , Amino Acid Metabolism, Inborn Errors/diagnosis , Brain Diseases/diagnosis , Fatal Outcome , Female , Humans , Hyperammonemia/diagnosisABSTRACT
We report the case of a nine-year-old girl, of Moroccan origin, hospitalised for fever and stomach ache. The clinical and biological investigations showed merely a moderate enlargement of the spleen associated with discrete regenerative hemolytic anemia. The etiologic analysis of the hemolysis was completed by the electrophoresis of hemoglobin (Hb) that revealed total absence of HbA, with the presence of 98.7% of HbF and 1.3% of HbA2. These results led to a diagnosis of ß0 thalassemia associated with an intermediate phenotype, i.e. beta thalassemia intermedia (BTI). The molecular study of the ß-globin gene evidenced a homozygous mutation at codon 35 of the exon 2 TAC>TAA (HBB: c.108C>A) leading to the premature stop codon. The study of several polymorphisms involved in the regulation of the expression of HbF concords with the intermediate phenotype found in the patient. This observation offers an opportunity to redefine BTI and further explore its clinical and genetic specificity.
Subject(s)
beta-Thalassemia/diagnosis , Child , Diagnosis, Differential , Female , Hematologic Tests/standards , Humans , Sensitivity and SpecificityABSTRACT
Studying wild pathogen populations in natural ecosystems offers the opportunity to better understand the evolutionary dynamics of biotic diseases in crops and to enhance pest control strategies. We used simulations and genetic markers to investigate the spatial and temporal population genetic structure of wild populations of the beet cyst nematode Heterodera schachtii on a wild host plant species, the sea beet (Beta vulgaris spp. maritima), the wild ancestor of cultivated beets. Our analysis of the variation of eight microsatellite loci across four study sites showed that (i) wild H. schachtii populations displayed fine-scaled genetic structure with no evidence of substantial levels of gene flow beyond the scale of the host plant, and comparisons with simulations indicated that (ii) genetic drift substantially affected the residual signals of isolation-by-distance processes, leading to departures from migration-drift equilibrium. In contrast to what can be suspected for (crop) field populations, this showed that wild cyst nematodes have very low dispersal capabilities and are strongly disconnected from each other. Our results provide some key elements for designing pest control strategies, such as decreasing passive dispersal events to limit the spread of virulence among field nematode populations.
ABSTRACT
Hemolytic anemia (HA) of the newborn should be considered in cases of rapidly developing, severe, or persistent hyperbilirubinemia. Several causes of corpuscular hemolysis have been described, among which red blood cell enzyme defects are of particular concern. We report a rare case of red blood cell enzyme defect in a male infant, who presented during his first months of life with recurrent and isolated neonatal hemolysis. All main causes were ruled out. At 6.5 months of age, the patient presented with gastroenteritis requiring hospitalization; fortuitously, urine organic acid chromatography revealed a large peak of 5-oxoproline. Before the association between HA and 5-oxoprolinuria was noted, glutathione synthetase deficiency was suspected and confirmed by a low glutathione synthetase concentration and a collapse of glutathione synthetase activity in erythrocytes. Moreover, molecular diagnosis revealed 2 mutations in the glutathione synthetase gene: a previously reported missense mutation (c.[656A>G]; p.[Asp219Gly]) and a mutation not yet described in the binding site of the enzyme (c.[902T>C]; p.[Leu301Pro]). However, 15 days later, a control sample revealed no signs of 5-oxoprolinuria and the clinical history discovered administration of acetaminophen in the 48 hours before hospitalization. Thus, in this patient, acetaminophen exposure allowed the diagnosis of a mild form of glutathione synthetase deficiency, characterized by isolated HA. Early diagnosis is important because treatment with bicarbonate, vitamins C and E, and elimination of trigger factors are recommended to improve long-term outcomes. Glutathione synthetase deficiency should be screened for in cases of unexplained newborn HA.
Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Anemia, Hemolytic/etiology , Glutathione Synthase/deficiency , Amino Acid Metabolism, Inborn Errors/complications , Humans , Infant, Newborn , Male , RecurrenceABSTRACT
The sustainability of modern agriculture relies on strategies that can control the ability of pathogens to overcome chemicals or genetic resistances through natural selection. This evolutionary potential, which depends partly on effective population size (N e ), is greatly influenced by human activities. In this context, wild pathogen populations can provide valuable information for assessing the long-term risk associated with crop pests. In this study, we estimated the effective population size of the beet cyst nematode, Heterodera schachtii, by sampling 34 populations infecting the sea beet Beta vulgaris spp. maritima twice within a one-year period. Only 20 populations produced enough generations to analyze the variation in allele frequencies, with the remaining populations showing a high mortality rate of the host plant after only 1 year. The 20 analyzed populations showed surprisingly low effective population sizes, with most having N e close to 85 individuals. We attribute these low values to the variation in population size through time, systematic inbreeding, and unbalanced sex-ratios. Our results suggest that H. schachtii has low evolutionary potential in natural environments. Pest control strategies in which populations on crops mimic wild populations may help prevent parasite adaptation to host resistance.
