So Close Yet So Different: Cultural Differences Among Farmers in Central Kenya Affect Their Knowledge of Sorghum (Sorghum bicolor [L.] Moench) Landrace Identification

International audienceSo Close Yet So Different: Cultural Differences among Farmers in Central Kenya Affect Their Knowledge of Sorghum (Sorghum bicolor [L.] Moench) Landrace Identification. Whether knowledge of landrace identification is shared among farmers in rural societies is a matter of debate in crop diversity research, and the influence of culture on knowledge heterogeneity remains largely misunderstood. This study analyzes the heterogeneity of farmers' knowledge of crop landrace identification, and investigates factors involved in its patterns. It especially explores the effect of cultural differences by comparing how three ethnolinguistic groups identify and name sorghum diversity in the Mount Kenya region. A set of 293 panicles representing sorghum diversity in the study area was presented for identification to 96 farmers randomly selected in the three groups. A subset of 287 panicles was scored for morphological characteristics using 16 qualitative descriptors, and neutral genetic diversity of 170 of them was described using 18 SSR genetic markers. Distance-based analyses were applied to analyze knowledge patterns within and between groups and to describe the structure of sorghum morphological and genetic diversity. Results show that the degree of heterogeneity of knowledge among farmers varies strongly according to both their ethnolinguistic membership and panicle characteristics, despite their high geographic proximity. The effect of farmers' experience of landraces and of pathways for social learning on inter-individual variations of knowledge is discussed

Excès pondéral chez les collégiens et lycéens du Val de Marne en 1998 et 2005 selon leurs caractéristiques sociales et économiques

info:eu-repo/semantics/publishe

Indicateurs de santé chez les collégiens et lycéens du Val de Marne en 2005: excès pondéral, atteinte carieuse et risque de dépression

info:eu-repo/semantics/publishe

Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas.

The aim is to describe an uncommon phenotype of hereditary ATTR neuropathy with upper limb onset. The French TTR Familial Amyloid Polyneuropathy database was used for a retrospective evaluation of 32 consecutive patients with upper limb onset of the neuropathy (study group) and they were compared to 31 Portuguese early-onset patients and 99 late-onset patients without upper limb onset. Initial upper limb symptoms were mostly sensory. Lower limb symptoms began 2.3 ± 3 years after upper limb symptoms. Twenty-four (75%) patients were initially misdiagnosed, with 15 different diagnoses. More patients in the study group had a Neuropathy Impairment Score upper limb/lower limb ratio > 1 compared to the late-onset patient group. The study group had significantly more pronounced axonal loss in the median and ulnar motor nerves and the ulnar sensory and sural nerves. On radial nerve biopsies (n = 11), epineurial vessels were abnormal in six cases, including amyloid deposits in vessel walls (3/11), with vessel occlusion in two cases. Upper limb onset of hereditary ATTR neuropathy is not rare in non-endemic areas. It is important to propose early TTR sequencing of patients with idiopathic upper limb neuropathies, as specific management and treatment are required

Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis

Objective: To assess skin biopsy as marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a treatable disease. Methods: In this single center retrospective study, skin Congo red staining and intraepidermal nerve fiber density (IENFD) were evaluated in symptomatic ATTRv-PN patients and asymptomatic TTR gene mutation carriers between 2012 and 2019. Non-ATTRv subjects with small fiber neuropathy suspicion who underwent skin biopsy in the same timespan were used as controls. Results: One-hundred-eighty-three symptomatic ATTRv-PN, 36 asymptomatic carriers, and 537 non-ATTRv patients were included. Skin biopsy demonstrated amyloid depositions in 80% of the 183 symptomatic cases. Skin amyloid deposits were found in 75% of early-stage ATTRv-PN patients, and in 14% of asymptomatic carriers. All 183 symptomatic and 34/36 asymptomatic patients displayed decreased ankle IENFD with a proximal-distal gradient distribution, and reduced IEFND correlated with disease severity and duration. Conclusions: Our study demonstrates skin amyloid deposits are a marker of ATTRv-PN disease onset, and decreased IENFD a marker of disease progression. These results are of major importance for the early identification of ATTRv-PN patients in need of disease-modifying treatments

Amyloidosis from the patient perspective: the French daily impact of amyloidosis study

International audienceBackgroundAmyloidosis is a complex group of rare conditions. For patients, amyloidosis is severely debilitating: physically and psychologically. Currently, data are lacking to evaluate the medical, economic, and social burden of systemic amyloidosis.ObjectiveTo analyse the patient burden according to the main types of systemic amyloidosis.MethodsThe French Daily Impact of Amyloidosis study was an observational, cross-sectional and non-interventional study. Adults diagnosed with light chain (AL), transthyretin (ATTR), amyloid A (AA) and other rare forms of amyloidosis were eligible. Data regarding amyloidosis prevalence, diagnosis, management, and impact on everyday life were collected using a study-specific survey built by the Association Française Contre l’Amylose (AFCA) and the four French National Referral Centres for Amyloidosis.ResultsA total of 603 patients, predominantly male (65%) with an average age of 66.8 years, including 170 AL, 224 ATTRv, 109 ATTRwt and 25 AA amyloidosis patients, completed the study-specific survey. The median delay from presentation to confirmed diagnosis was 27.4 months but varied according to amyloidosis type. Patients before diagnosis had breathlessness (49%), tingling sensation (33%), pain (28%), difficulty in walking (28%) and weight loss (22%). Amyloidosis was most frequently suspected (49%) and confirmed (57%) in local hospitals but managed in French amyloidosis referral centres (58%). Patients often reported problems with mobility, usual activities, pain/discomfort and anxiety/depression, but not with self-care.ConclusionsSystemic amyloidosis severely impacts daily life. The delay to confirmed amyloidosis diagnosis needs to be reduced. Early, effective treatment is required to optimise patient benefits

Transcriptome Analysis of Peripheral Blood in Chronic Inflammatory Demyelinating Polyradiculoneuropathy Patients Identifies TNFR1 and TLR Pathways in the IVIg Response

International audienceWe have studied the response to intravenous immunoglobulins (IVIg) by a transcriptomic approach in 11 chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients (CIDP duration = 6 [0.83–6.5] years). RNA was extracted from cells in whole blood collected before and 3 weeks after IVIg treatment, and hybridized on Illumina chips. After RNA quality controls, gene expression was analyzed using statistical tests fitted for microarrays (R software, limma package), and a pathway analysis was performed using DAVID software. We identified 52 genes with expression that varied significantly after IVIg (fold change [FC] > 1.2, P < 0.001, false discovery rate [FDR] <0.05). Among these 52 genes, 7 were related to immunity, 3 were related to the tumor necrosis factor (TNF)-α receptor 1 (TNFR1) pathway (inhibitor of caspase-activated DNase (ICAD): FC = 1.8, P = 1.7E-7, FDR = 0.004; p21 protein-activated kinase 2 [PAK2]: FC = 1.66, P = 2.6E-5, FDR = 0.03; TNF-α-induced protein 8-like protein 1 [TNFAIP8L1]: P = 1.00E-05, FDR = 0.026), and 2 were related to Toll-like receptors (TLRs), especially TLRs 7 and 9, and were implicated in autoimmunity. These genes were UNC93B1 (FC = 1.6, P = 2E-5, FDR = 0.03), which transports TLRs 7 and 9 to the endolysosomes, and RNF216 (FC = 1.5, P = 1E-05, FDR = 0.03), which promotes TLR 9 degradation. Pathway analysis showed that the TNFR1 pathway was significantly lessened by IVIg (enrichment score = 24, Fischer exact test = 0.003). TNF-α gene expression was higher in responder patients than in nonresponders; however, it decreased after IVIg in responders (P = 0.04), but remained stable in nonresponders. Our data suggest the actions of IVIg on the TNFR1 pathway and an original mechanism involving innate immunity through TLRs in CIDP pathophysiology and the response to IVIg. We conclude that responder patients have stronger inflammatory activity that is lessened by IVIg