Oak (Quercus petraea and Quercus robur), an emblematic species in French forests, has a strong patrimonial value and plays a leading role in the forestry and forest-based industry. However, the ...industry appears to be confronted with major problems (e.g. supply to markets). We tried to better understand and analyse those problems by studying the oak chain in north eastern France (Alsace, Franche-Comté, Lorraine) through interviews conducted with public forest managers and players involved in primary processing. In order to survey a broad range of points of view and have a basis for comparison, the study area also included two Landers in south western Germany (Baden-Wurttemberg, Rhineland-Palatinate). A qualitative analysis of 25 interviews conducted on both sides of the Franco-German border enabled us to identify contrasting views and points of consensus about the issues relating to forest resources, the perception of the sector by the players and the entrepreneurial dynamic. Possible future developments could also be distinguished, some of which are already discussed in the literature while others were particular to this survey.
Le Chêne (Quercus petraea et Quercus robur), essence emblématique de la forêt française, a une valeur patrimoniale forte et joue un rôle majeur dans la filière forêt-bois. Néanmoins, cette filière semble être confrontée à des problèmes importants (par exemple au niveau de l’approvisionnement et des marchés) que nous avons cherché à mieux comprendre et à analyser. Notre étude s’intéresse plus particulièrement à la filière Chêne dans le nord-est de la France (Alsace, Franche-Comté, Lorraine) et se base sur des entretiens réalisés auprès de gestionnaires forestiers publics et d’acteurs de la première transformation. Afin d’obtenir une gamme large de points de vue et de disposer d’éléments de comparaison, la zone d’étude intègre également deux Länder du sud-ouest de l’Allemagne (Bade-Wurtemberg, Rhénanie-Palatinat). L’analyse qualitative de 25 entretiens, réalisés de part et d’autre de la frontière franco-allemande, a permis de dégager des avis divergents et des points de consensus au sujet de thématiques relatives à la ressource forestière, à la perception de la filière par les acteurs et aux dynamiques d’entreprise. Des perspectives d’évolution ont aussi pu être distinguées, comprenant des réflexions déjà évoquées dans la littérature et d’autres plus personnelles à cette étude.
Oak (Quercus petraea and Quercus robur), an emblematic species in French forests, has a strong patrimonial value and plays a leading role in the forestry and forest-based industry. However, the ...industry appears to be confronted with major problems (e.g. supply to markets). We tried to better understand and analyse those problems by studying the oak chain in north eastern France (Alsace, Franche-Comté, Lorraine) through interviews conducted with public forest managers and players involved in primary processing. In order to survey a broad range of points of view and have a basis for comparison, the study area also included two Landers in south western Germany (Baden-Wurttemberg, Rhineland-Palatinate). A qualitative analysis of 25 interviews conducted on both sides of the Franco-German border enabled us to identify contrasting views and points of consensus about the issues relating to forest resources, the perception of the sector by the players and the entrepreneurial dynamic. Possible future developments could also be distinguished, some of which are already discussed in the literature while others were particular to this survey.
Le Chêne (Quercus petraea et Quercus robur), essence emblématique de la forêt française, a une valeur patrimoniale forte et joue un rôle majeur dans la filière forêt-bois. Néanmoins, cette filière semble être confrontée à des problèmes importants (par exemple au niveau de l’approvisionnement et des marchés) que nous avons cherché à mieux comprendre et à analyser. Notre étude s’intéresse plus particulièrement à la filière Chêne dans le nord-est de la France (Alsace, Franche-Comté, Lorraine) et se base sur des entretiens réalisés auprès de gestionnaires forestiers publics et d’acteurs de la première transformation. Afin d’obtenir une gamme large de points de vue et de disposer d’éléments de comparaison, la zone d’étude intègre également deux Länder du sud-ouest de l’Allemagne (Bade-Wurtemberg, Rhénanie-Palatinat). L’analyse qualitative de 25 entretiens, réalisés de part et d’autre de la frontière franco-allemande, a permis de dégager des avis divergents et des points de consensus au sujet de thématiques relatives à la ressource forestière, à la perception de la filière par les acteurs et aux dynamiques d’entreprise. Des perspectives d’évolution ont aussi pu être distinguées, comprenant des réflexions déjà évoquées dans la littérature et d’autres plus personnelles à cette étude.
The Ras Jebel aquifer (North Tunisia) is a typical Mediterranean overexploited coastal aquifer. Since 1966, the piezometric levels have decreased, and water quality has deteriorated. A piezometric ...dropdown correlated to high salinity is observed in the coastal part of the aquifer. The salinity was increased from 1.7 g.L
−1
in 1966 to 4 g.L
−1
in 1985. For groundwater remediation, and to combat seawater intrusion, the Tunisian Water Authorities (DGRE and CRDA Bizerte) have set up an artificial groundwater recharge program by surface water through an irrigation system since 1992. Until 2018, 9.21 Mm
3
was injected into the aquifer. The work aims are to study and find out the impact of artificial recharge by surface water on the piezometric evolution and the water quality of the Ras Jebel aquifer in relation to the seawater intrusion risk. A multi-tracer approach was carried out in the Ras Jebel region in May 2015 and 2016, including piezometric, geochemical, and geophysical studies. The piezometric study was used to assess the piezometric evolution in relation to the recharge operations. The salinity data were used to characterize the groundwater salinity evolution. Four electrical tomography profiles of a 315 m length were executed between the recharge site and the coastline. Inverted apparent resistivity models have been developed. Electrical resistivity contrast between the recharge water infiltration, seawater intrusion, and groundwater shows the infiltration of recharge water in the direction of the piezometric depression. Consequently, a hydraulic barrier of 150 m larger was formed on the side of the sea. It resists seawater intrusion.
Deleterious mutations on
genes are known to confer high risk of developing breast and ovarian cancers. The identification of these mutations not only helped in selecting high risk individuals that ...need appropriate prevention approaches but also led to the development of the PARP-inhibitors targeted therapy. This study aims to assess the prevalence of the most frequent
mutation in Tunisia, c.211dupA, and provide evidence of its common origin as well as its clinicopathological characteristics. We also aimed to identify additional actionable variants using classical and next generation sequencing technologies (NGS) which would allow to implement cost-effective genetic testing in limited resource countries.
Using sanger sequencing, 112 breast cancer families were screened for c.211dupA. A set of patients that do not carry this mutation were investigated using NGS. Haplotype analysis was performed to assess the founder effect and to estimate the age of this mutation. Correlations between genetic and clinical data were also performed.
The c.211dupA mutation was identified in 8 carriers and a novel private
mutation, c.2418dupA, was identified in one carrier. Both mutations are likely specific to North-Eastern Tunisia. Haplotype analysis supported the founder effect of c.211dupA and showed its recent origin. Phenotype-genotype correlation showed that both
mutations seem to be associated with a severe phenotype. Whole Exome Sequencing (WES) analysis of a
negative family revealed a Variant of Unknown Significance, c.3647C > G on
. Molecular modeling showed that this variant could be classified as deleterious as it is responsible for destabilizing the RAD50 protein structure. Variant prioritization and pathway analysis of the WES data showed additional interesting candidate genes including
and
We recommend the prioritization of
-c.211dupA screening in high risk breast cancer families originating from the North-East of Tunisia. We also highlighted the importance of NGS in detecting novel mutations, such as
c.3647C > G. In addition, we strongly recommend using data from different ethnic groups to review the pathogenicity of this variant and reconsider its classification in ClinVar.
•A phenotypic overlap between cancer syndromes was observed which may cause clinical misdiagnosis. This underscores the crucial role of genetic testing and the necessity of a multidisciplinary ...approach to enhance the effectiveness of the cancer health system.•Within Tunisian patients with cancer, genetic analysis allowed the identification of multiple disease-causing variants accounting for 44.68% of patients, with different inheritance patterns (autosomal dominant or recessive transmission).•Two pathogenic TP53 mutations previously unreported in the Tunisian population were identified. Phenotype-genotype correlation suggests that the (c.638G>A) mutation carrier may exhibit an atypical/mild LFS phenotype.•A novel homozygous mutation (c.3254dupT) in the BLM gene was identified in a patient with multiple primary cancers, along with other phenotypes suggestive of a bloom syndrome diagnosis.•Results provided in this study may contribute to the establishment of a national database on known and novel hereditary cancer syndromes in Tunisia and the broader African context.
Cancer management in Africa faces diverse challenges due to limited resources, health system challenges, and other matters. Identifying hereditary cancer syndromic cases is crucial to improve clinical management and preventive care in these settings. This study aims to explore the clinicopathological features and genetic factors associated with hereditary cancer in Tunisia, a North African country with a rising cancer burden
Clinicopathological features and personal/family history of cancer were explored in 521 patients. Genetic analysis using Sanger and next-generation sequencing was performed for a set of patients
Hereditary breast and ovarian cancer syndrome was the most frequent cluster in which 36 BRCA mutations were identified. We described a subgroup of patients with likely ‘’breast cancer-only syndrome’’ among this cluster. Two cases of Li-Fraumeni syndrome with distinct TP53 mutations namely c.638G>A and c.733G>A have been identified. Genetic investigation also allowed the identification of a new BLM homozygous mutation (c.3254dupT) in one patient with multiple primary cancers. Phenotype-genotype correlation suggests the diagnosis of Bloom syndrome. A recurrent MUTYH mutation (c.1143_1144dup) was identified in three patients with different phenotypes
Our study calls for comprehensive genetic education and the implementation of genetic screening in Tunisia and other African countries health systems, to reduce the burden of hereditary diseases and improve cancer outcomes in resource-stratified settings.
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The MHC class I chain-related molecule A (MICA) is a ligand for the activating natural killer (NK) cell receptor NKG2D. A part from its genetic diversity, MICA is characterized by the presence of ...membrane-bound and soluble isoform (sMICA) and by the propensity to elicit antibody-mediated allogeneicity (MICA Abs). Altogether such properties are important in the cancer setting. Here, we investigated whether MICA polymorphism, serum level of sMICA and MICA antibodies (Abs) may influence nasopharyngeal carcinoma (NPC) risk. 274 NPC naïve of treatment patients and 275 healthy individuals, all originating from Tunisia were included and genotyped. Among them, 160 sera from patients and 51 from controls were analyzed for the sMICA level by ELISA and were tested for the presence of MICA Abs by Luminex assay. The statistical analysis showed that: (1) we extend and confer our previous finding concerning Val/Val association with risk of NPC (p = .02, OR = 1.56; 95%CI 1.12-2.11). (2) The higher level of sMICA characterized patients advanced stage of the disease. (3) The 18 (78%) of patients having MICA Abs exhibit all a non-advanced stage of the tumor extension at presentation. MICA129 Met /Val, sMICA and MICA Abs could be potential biomarkers of prediction, the diverse staging of NPC and hence prognostic and treatment.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Human leukocyte antigens G and E (HLA-G and HLA-E) are nonclassical major histocompatibility complex (MHC) class I molecules. These molecules play an important role in immune surveillance by ...inhibiting natural killer and cytotoxic T cells responsible for immune escape. The expression of HLA-G and HLA-E has been associated with several diseases including tumor. The main objective of the study is to evaluate the impact of three HLA-G 3ʹUTR potential polymorphisms: +3187 A > G (rs9380142), +3142 G > C (rs1063320), +2960 14-base pair (bp) Insertion/Deletion (Ins/Del) (rs66554220), and the HLA-E*01:01/01:03 A > G (rs1264457) polymorphism in Tunisian breast cancer population. A total of 355 patients and 381 controls were genotyping for HLA-G and HLA-E polymorphisms using a Taq Man assay. +3142 C allele and +3142 C/C genotype were significantly associated with increased risk of breast cancer (p = 0.00002; OR = 1.58; 95% CI = 27-1.97) (49% versus 35%; p = 0.0001; OR = 1.79; 95% CI = 1.32-2.44). In addition, Del allele and the homozygous state for Del/Del genotype confer a risk for breast cancer (52% versus 45%, p = 0.006; OR = 1.33, 95% CI = 1.08-1.64) (28% versus 22%, p = 0.039; OR = 1.43, 95% CI = 0.90-2.25). However, no statistical significant differences were reported for HLA-G + 3187 A > G and HLA-E variations and breast cancer in a Tunisian population.
The found results indicate that HLA-G may play an important role in the breast cancer.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Breast cancer is the world's most common cancer among women. It is becoming an increasingly urgent problem in low- and middle-income countries (LMICs) where a large fraction of women is diagnosed ...with advanced-stage disease and have no access to treatment or basic palliative care. About 5-10% of all breast cancers can be attributed to hereditary genetic components and up to 25% of familial cases are due to mutations in
/2 genes. Since their discovery in 1994 and 1995, as few as 18 mutations have been identified in
genes in the Tunisian population. The aim of this study is to identify additional
mutations, to estimate their contribution to the hereditary breast and ovarian cancers in Tunisia and to investigate the clinicopathological signatures associated with
mutations.
A total of 354 patients diagnosed with breast and ovarian cancers, including 5 male breast cancer cases, have been investigated for
mutations using traditional and/or next generation sequencing technologies. Clinicopathological signatures associated with
mutations have also been investigated.
In the current study, 16 distinct mutations were detected: 10 in
and 6 in
, of which 11 are described for the first time in Tunisia including 3 variations that have not been reported previously in public databases namely
_c.915T>A;
_c.-227-?_7805+? and
_c.249delG. Early age at onset, family history of ovarian cancer and high tumor grade were significantly associated with
status.
carriers were more likely to be triple negative breast cancer compared to
carriers. A relatively high frequency of contralateral breast cancer and ovarian cancer occurrence was observed among
carriers and was more frequent in patients carrying
mutations.
Our study provides new insights into breast and ovarian cancer genetic landscape in the under-represented North African populations. The prevalence assessment of novel and recurrent
pathogenic mutations will enhance the use of personalized treatment and precise screening strategies by both affected and unaffected North African cancer cases.
Schizophrenia (SZ) is a multifactorial disorder involving complex interactions between genetic and environmental factors, where immune dysfunction plays a key etiopathogenic role. In order to explore ...the control of innate immune responses in SZ, we aimed to investigate the potential association between twelve TLR2, TLR4 and TLR9 variants (TLR2: rs4696480T>A, rs3804099T>C, rs3804100T>C; TLR4: rs1927914G>A, rs10759932T>C, rs4986790A>G, rs4986791T>C, rs11536889G>C, rs11536891T>C; TLR9: rs187084A>G, rs352139T>C and rs352140C>T) and SZ susceptibility in a Tunisian population.
This study included 150 patients and 201 healthy controls with no history of psychiatric illness. Genotyping was done using a TaqMan SNP genotyping assay. We also assessed a haplotype analysis for TLR2, TLR4 and TLR9 variants with SZ using Haploview 4.2 Software.
We found that the AA genotype of the TLR2 rs4696480T>A variant was significantly associated with an increased risk of SZ (46% vs. 31%, P=4.7×10
, OR=1.87 and 95% CI 1.18-2.97). The frequency of the TA genotype was significantly higher in the control group than in SZ patients (27% vs. 43%, P=2.1×10
) and may be associated with protection against SZ (OR=0.49 and 95% CI 0.30-0.80). Whereas, the TLR9 rs187084-GG genotype was higher in the control group compared to patients (16% vs. 5%, P=1.6×10
and would present protection against SZ (OR=0.28, CI=0.10-0.68). The ACT haplotype of the TLR2 and the ACC haplotype of the TLR9 gene were identified as a risk haplotypes for SZ (P=0.04, OR=9.30, 95% CI=1.11-77.71; P=3×10
, OR=6.05, 95% CI=2.29-15.98, respectively).
The results indicate that TLR2 and TLR9 genetic diversity may play a role in genetic vulnerability to SZ. However, including more patients and evaluation of TLR2 and TLR9 expression are recommended.
Human leukocyte antigens G and E (HLA-G and HLA-E) are nonclassical major histocompatibility complex (MHC) class I molecules. These molecules play an important role in immune surveillance by ...inhibiting natural killer and cytotoxic T cells responsible for immune escape. The expression of HLA-G and HLA-E has been associated with several diseases including tumor. The main objective of the study is to evaluate the impact of three
3'UTR potential polymorphisms: +3187 A > G (rs9380142), +3142 G > C (rs1063320), +2960 14-base pair (bp) Insertion/Deletion (Ins/Del) (rs66554220), and the HLA-E*01:01/01:03 A > G (rs1264457) polymorphism in Tunisian breast cancer population. A total of 355 patients and 381 controls were genotyping for
and
polymorphisms using a Taq Man assay. +3142
allele and +3142
genotype were significantly associated with increased risk of breast cancer (p = 0.00002; OR = 1.58; 95% CI = 27-1.97) (49% versus 35%; p = 0.0001; OR = 1.79; 95% CI = 1.32-2.44). In addition,
allele and the homozygous state for
genotype confer a risk for breast cancer (52% versus 45%, p = 0.006; OR = 1.33, 95% CI = 1.08-1.64) (28% versus 22%, p = 0.039; OR = 1.43, 95% CI = 0.90-2.25). However, no statistical significant differences were reported for
+ 3187 A > G and
variations and breast cancer in a Tunisian population. The found results indicate that HLA-G may play an important role in the breast cancer.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
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