Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 123
Filter
1.
Ann Rheum Dis ; 2024 May 30.
Article in English | MEDLINE | ID: mdl-38816065

ABSTRACT

OBJECTIVES: To investigate the frequency and factors associated with disease flare following vaccination against SARS-CoV-2 in people with inflammatory/autoimmune rheumatic and musculoskeletal diseases (I-RMDs). METHODS: Data from the European Alliance of Associations for Rheumatology Coronavirus Vaccine physician-reported registry were used. Factors associated with flare in patients with I-RMDs were investigated using multivariable logistic regression adjusted for demographic and clinical factors. RESULTS: The study included 7336 patients with I-RMD, with 272 of 7336 (3.7%) experiencing flares and 121 of 7336 (1.6%) experiencing flares requiring starting a new medication or increasing the dosage of an existing medication. Factors independently associated with increased odds of flare were: female sex (OR=1.40, 95% CI=1.05 to 1.87), active disease at the time of vaccination (low disease activity (LDA), OR=1.45, 95% CI=1.08 to 1.94; moderate/high disease activity (M/HDA), OR=1.37, 95% CI=0.97 to 1.95; vs remission), and cessation/reduction of antirheumatic medication before or after vaccination (OR=4.76, 95% CI=3.44 to 6.58); factors associated with decreased odds of flare were: higher age (OR=0.90, 95% CI=0.83 to 0.98), non-Pfizer/AstraZeneca/Moderna vaccines (OR=0.10, 95% CI=0.01 to 0.74; vs Pfizer), and exposure to methotrexate (OR=0.57, 95% CI=0.37 to 0.90), tumour necrosis factor inhibitors (OR=0.55, 95% CI=0.36 to 0.85) or rituximab (OR=0.27, 95% CI=0.11 to 0.66), versus no antirheumatic treatment. In a multivariable model using new medication or dosage increase due to flare as the dependent variable, only the following independent associations were observed: active disease (LDA, OR=1.47, 95% CI=0.94 to 2.29; M/HDA, OR=3.08, 95% CI=1.91 to 4.97; vs remission), cessation/reduction of antirheumatic medication before or after vaccination (OR=2.24, 95% CI=1.33 to 3.78), and exposure to methotrexate (OR=0.48, 95% CI=0.26 to 0.89) or rituximab (OR=0.10, 95% CI=0.01 to 0.77), versus no antirheumatic treatment. CONCLUSION: I-RMD flares following SARS-CoV-2 vaccination were uncommon. Factors associated with flares were identified, namely higher disease activity and cessation/reduction of antirheumatic medications before or after vaccination.

2.
Data Brief ; 51: 109725, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37965617

ABSTRACT

This dataset includes data on the embodied human appropriation of net primary production (eHANPP) associated with products derived from agriculture and forestry. The human appropriation of net primary production (HANPP) is an indicator of changes in the yearly availability of biomass energy from photosynthesis that remains available in terrestrial ecosystems after harvest, under current land use, compared to the net primary production of the potential natural vegetation. HANPP is an indicator of land-use intensity that is relevant for biodiversity and biogeochemical cycles. The eHANPP indicator allocates HANPP to products and allows tracing trade flows from origin (the country where production takes place) to consumption (the country where products are consumed), thereby underpinning research into the telecouplings in global land use. The datasets described in this article trace eHANPP associated with the bilateral trade flows between 222 countries. It covers 161 primary crops, 13 primary animal products and 4 primary forestry products, as well as the end uses of these products for the years 1986 to 2013.

3.
Joint Bone Spine ; 90(6): 105608, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37414137

ABSTRACT

OBJECTIVES: The objective of the current study was to evaluate the severity of COVID-19 and identify factors associated with severe disease outcomes in patients with spondyloarthritis (SpA), a chronic inflammatory rheumatic and musculoskeletal disease (RMD). METHODS: We utilized patient data from the French national multicenter RMD COVID-19 cohort (NCT04353609). The primary outcome was to describe COVID-19 characteristics in patients with SpA based on disease severity of COVID-19 (mild, moderate or severe) with serious infection including moderate and severe cases. The secondary outcome was to identify the factors associated with serious COVID-19 classification. RESULTS: Among the 626 patients with SpA (56% female, mean age 49±14 years) from the French RMD cohort, COVID-19 severity was mild in 508 (81%), moderate in 93 (15%), and severe in 25 (4%) patients. Clinical signs and symptoms of COVID-19 were reported in 587 (94%) patients, with the most frequent presented symptom of fever (63%) and cough (62%), followed by flu-like symptoms (53%), agueusia (39%), anosmia (37%), dyspnea (32%) and diarrhea (19.9%). COVID-19 severity was associated with corticosteroid therapy (OR=3.08 [95% CI: 1.44-6.58], P=0.004) and age (OR=1.06 [95% CI: 1.04-1.08], P<0.001) while use of tumor necrosis factor inhibitor (TNFi, OR=0.27 [95% CI: 0.09-0.78], P=0.01) was associated with less severe disease. We did not identify an association between NSAID use and COVID-19 severity. CONCLUSIONS: In this study, the majority of patients with SpA had a favorable COVID-19 outcome. We confirmed age and corticosteroids therapy had a negative impact on disease outcomes while TNFi use was protective.


Subject(s)
COVID-19 , Spondylarthritis , Adult , Female , Humans , Male , Middle Aged , COVID-19/complications , Spondylarthritis/diagnosis , Spondylarthritis/drug therapy , Spondylarthritis/epidemiology , Tumor Necrosis Factor-alpha
5.
J Transl Autoimmun ; 6: 100190, 2023.
Article in English | MEDLINE | ID: mdl-36684808

ABSTRACT

Objective: COVID-19 outcome may be less favourable in patients with inflammatory rheumatic and musculoskeletal diseases (RMD) receiving immunosuppressive therapy. We aimed to investigate whether RMD patients on anti-IL6 therapy prior to SARS-CoV-2 infection have less severe disease and better outcomes of COVID-19. Methods: We conducted a retrospective national, multicentre cohort study using data from the French RMD COVID-19 cohort. We compared the severity and outcome of highly suspected or confirmed COVID-19 infection in RMD patients previously treated with tocilizumab or sarilumab (anti-IL6 group) with patients who did not receive anti-IL6 therapy (no anti-IL6 group). Results: Data were collected for 1883 patients with mean age of 55.2 years [SD 16.7] and 1256 (66.7%) female. Two hundred ten (11.1%) developed severe COVID-19 and 115 (6.4%) died. After adjusting for potential confounding factors, severe COVID-19 was less frequent in the anti-IL6 group compared with the no anti-IL6 group (aOR for moderate vs. mild severity, 0.23 [95% CI, 0.10 to 0.54], p ≤ 0.01 and aOR for severe vs. mild, 0.29 [95% CI, 0.10 to 0.81], p ≤ 0.01). No significant differences were found for the evolution of COVID-19 between the anti-IL6 group and the no anti-IL6 group (aOR for recovery with sequelae vs recovery without sequelae, 0.78 [95% CI, 0.41 to 1.48] and aOR for death vs recovery without sequelae, 0.29 [95% CI, 0.07 to 1.30]). Conclusion: RMD patients receiving anti-IL6 therapy prior to SARS-CoV-2 infection have less severe forms of COVID-19. No difference was observed in COVID-19 evolution, i.e., sequelae or death, between the groups.

6.
J Fungi (Basel) ; 8(12)2022 Dec 05.
Article in English | MEDLINE | ID: mdl-36547607

ABSTRACT

Banana cultivars with the AAB genome group comprise diverse subgroups, such as Plantain, Silk, Iholena, and Pisang Raja, among others, which play an important role in food security in many developing countries. Some of these cultivars are susceptible to Fusarium oxysporum f. sp. cubense tropical race 4 (Foc TR4), the most destructive pathogen threatening banana production worldwide, and some of them are still largely unknown. We evaluated the resistance of 37 banana genotypes, including Plantain, Silk, Iholena, Maia Maoli/Popoulu, Pisang Raja, Pome, and Mysore, to Foc TR4 under both greenhouse and field conditions. Genotypes from the Silk and Iholena subgroups were highly susceptible to Foc TR4. Pome and Mysore showed resistance and intermediate resistance, respectively. However, Pisang Raja ranged from susceptible to intermediate resistance. One cultivar from the Maia Maoli/Popoulu subgroup was highly susceptible, while the other displayed significant resistance. Most Plantain cultivars exhibited high resistance to Foc TR4, except two French types of cultivar, 'Uganda Plantain' and 'Njombe N°2', which were susceptible. The susceptibility to Foc TR4 of some of the AAB genotypes evaluated, especially Plantain and other cooking bananas, indicates that growers dependent on these varieties need to be included as part of the prevention and integrated Foc TR4 management strategies, as these genotypes play a crucial role in food security and livelihoods.

7.
Front Plant Sci ; 13: 969220, 2022.
Article in English | MEDLINE | ID: mdl-36275535

ABSTRACT

Hybridization and introgressions are important evolutionary forces in plants. They contribute to the domestication of many species, including understudied clonal crops. Here, we examine their role in the domestication of a clonal crop of outmost importance, banana (Musa ssp.). We used genome-wide SNPs generated for 154 diploid banana cultivars and 68 samples of the wild M. acuminata to estimate and geo-localize the contribution of the different subspecies of M. acuminata to cultivated banana. We further investigated the wild to domesticate transition in New Guinea, an important domestication center. We found high levels of admixture in many cultivars and confirmed the existence of unknown wild ancestors with unequal contributions to cultivated diploid. In New Guinea, cultivated accessions exhibited higher diversity than their direct wild ancestor, the latter recovering from a bottleneck. Introgressions, balancing selection and positive selection were identified as important mechanisms for banana domestication. Our results shed new lights on the radiation of M. acuminata subspecies and on how they shaped banana domestication. They point candidate regions of origin for two unknown ancestors and suggest another contributor in New Guinea. This work feed research on the evolution of clonal crops and has direct implications for conservation, collection, and breeding.

8.
Sci Total Environ ; 851(Pt 2): 158198, 2022 Dec 10.
Article in English | MEDLINE | ID: mdl-36028028

ABSTRACT

The global livestock system puts increasing pressures on ecosystems. Studies analyzing the ecological impacts of livestock supply chains often explain this pressure by the increasing demand for animal products. Food regime theory proposes a more nuanced perspective: it explains livestock-related pressures on ecosystems by systemic changes along the supply chains of feed and animal products, notably the liberalization of agricultural trade. This study proposes a framework supporting empirical analyses of such claims by differentiating several steps of livestock supply chains. We reconstructed "trilateral" livestock supply chains linking feed production, livestock farming, and final consumption, based on the global flows of 161 feed and 13 animal products between 222 countries from 1986 to 2013. We used the embodied Human Appropriation of Net Primary Production (eHANPP) indicator to quantify pressures on ecosystems linked to these trilateral livestock supply chains. We find that livestock induced 65 % of agriculture's pressure on ecosystems, mostly through cattle grazing. Between 1986 and 2013, the fraction of livestock-related eHANPP that was traded internationally doubled from 7.1 % to 15.6 %. eHANPP related to the trade of feed was mostly linked to soybean imported for pig meat production, whereas eHANPP associated to traded animal products was mostly linked to cattle meat. eHANPP of traded animal products was lower but increased faster than eHANPP of feed trade. eHANPP was highest at the feed production level in South and North America, and at the consumption level in Eastern Asia. In Northern Asia and Eastern Europe, eHANPP was lowest at the animal products production level. In Western Europe, the eHANPP was equal at the animal products production and consumption levels. Our findings suggest that options to reduce livestock's pressures on ecosystems exist at all levels of the supply chain, especially by reducing the production and consumption in high-consuming countries and regulating international supply chains.


Subject(s)
Ecosystem , Livestock , Animals , Cattle , Agriculture , Animal Feed/analysis , Meat/analysis
9.
BMJ Case Rep ; 15(7)2022 Jul 07.
Article in English | MEDLINE | ID: mdl-35798496

ABSTRACT

A woman in her 30s received a second dose, first booster, Corminaty vaccine against the SARS-CoV-2. Three days later, the patient developed unilateral sacroiliitis. A pelvic scan revealed inflammatory joint edges, bone erosion and a heterogeneous mass of 2.5 cm in the psoas muscle. Joint puncture revealed no microcrystalline deposits, but bone marrow cells, erythroblast were identified. The standard bacterial cultures and culture for mycobacteria were negative. HLA B27 was negative, and no seroconversion was identified for HIV, Epstein-Barr virus, cytomegalovirus, chlamydia or Quantiferon. Two months later, the sacroiliitis resolved.The aetiologic approach of this erosive unilateral acute sacroiliitis in a person naïve to rheumatologic pathology was negative for inflammatory or infectious sacroiliitis. Arthralgias after vaccination are expected. Arthritis is less common, and acute sacroiliitis has not yet been described. Acute sacroiliitis may be considered a reactive sacroiliitis to the anti-COVID-19 mRNA vaccine.


Subject(s)
Arthritis , COVID-19 , Epstein-Barr Virus Infections , Sacroiliitis , Adult , Arthritis/etiology , COVID-19/prevention & control , Epstein-Barr Virus Infections/complications , Female , Herpesvirus 4, Human , Humans , RNA, Messenger , SARS-CoV-2 , Sacroiliac Joint/diagnostic imaging , Sacroiliac Joint/pathology , Sacroiliitis/etiology , Vaccination/adverse effects , Vaccines, Synthetic , mRNA Vaccines
10.
MethodsX ; 9: 101698, 2022.
Article in English | MEDLINE | ID: mdl-35518914

ABSTRACT

Changing the structure of the economy is often considered an option to reduce environmental impacts - for example, by changing the mix of sectors in the economy, the energy mix of production, or the mix of origin countries for imported products. To study the effect of such structure (or mix) effects, researchers often use index decomposition analysis (IDA). This study uses experimental data to show that most existing IDA methods, especially the widely used LMDI (logarithmic mean divisia index), yield results that are difficult to understand and easily misinterpreted. We use formal proof to demonstrate that:•The LMDI interpretation problem is due to the use of shares to describe the considered mix.•We developed an alternative method, the Marshall-Edgeworth with Structure Effects (MESE).•The MESE defines structure effects by comparing each observation to a hypothetical average, which better reflects the common understanding of structure effects.We compared empirical data on the LMDI and the MESE, analysing the effect of the changing sector mix on energy use in the USA from 1995 to 2016, and found that results from the two tools differed significantly. We therefore recommend using the MESE when structure effects are included in IDA.

11.
Nat Plants ; 8(5): 491-499, 2022 05.
Article in English | MEDLINE | ID: mdl-35534721

ABSTRACT

Crop landraces have unique local agroecological and societal functions and offer important genetic resources for plant breeding. Recognition of the value of landrace diversity and concern about its erosion on farms have led to sustained efforts to establish ex situ collections worldwide. The degree to which these efforts have succeeded in conserving landraces has not been comprehensively assessed. Here we modelled the potential distributions of eco-geographically distinguishable groups of landraces of 25 cereal, pulse and starchy root/tuber/fruit crops within their geographic regions of diversity. We then analysed the extent to which these landrace groups are represented in genebank collections, using geographic and ecological coverage metrics as a proxy for genetic diversity. We find that ex situ conservation of landrace groups is currently moderately comprehensive on average, with substantial variation among crops; a mean of 63% ± 12.6% of distributions is currently represented in genebanks. Breadfruit, bananas and plantains, lentils, common beans, chickpeas, barley and bread wheat landrace groups are among the most fully represented, whereas the largest conservation gaps persist for pearl millet, yams, finger millet, groundnut, potatoes and peas. Geographic regions prioritized for further collection of landrace groups for ex situ conservation include South Asia, the Mediterranean and West Asia, Mesoamerica, sub-Saharan Africa, the Andean mountains of South America and Central to East Asia. With further progress to fill these gaps, a high degree of representation of landrace group diversity in genebanks is feasible globally, thus fulfilling international targets for their ex situ conservation.


Subject(s)
Crops, Agricultural , Plant Breeding , Crops, Agricultural/genetics , Asia, Eastern , South America , Triticum/genetics
12.
Gigascience ; 112022 04 30.
Article in English | MEDLINE | ID: mdl-35488861

ABSTRACT

BACKGROUND: Ensete glaucum (2n = 2x = 18) is a giant herbaceous monocotyledonous plant in the small Musaceae family along with banana (Musa). A high-quality reference genome sequence assembly of E. glaucum is a resource for functional and evolutionary studies of Ensete, Musaceae, and the Zingiberales. FINDINGS: Using Oxford Nanopore Technologies, chromosome conformation capture (Hi-C), Illumina and RNA survey sequence, supported by molecular cytogenetics, we report a high-quality 481.5 Mb genome assembly with 9 pseudo-chromosomes and 36,836 genes. A total of 55% of the genome is composed of repetitive sequences with predominantly LTR-retroelements (37%) and DNA transposons (7%). The single 5S ribosomal DNA locus had an exceptionally long monomer length of 1,056 bp, more than twice that of the monomers at multiple loci in Musa. A tandemly repeated satellite (1.1% of the genome, with no similar sequence in Musa) was present around all centromeres, together with a few copies of a long interspersed nuclear element (LINE) retroelement. The assembly enabled us to characterize in detail the chromosomal rearrangements occurring between E. glaucum and the x = 11 species of Musa. One E. glaucum chromosome has the same gene content as Musa acuminata, while others show multiple, complex, but clearly defined evolutionary rearrangements in the change between x= 9 and 11. CONCLUSIONS: The advance towards a Musaceae pangenome including E. glaucum, tolerant of extreme environments, makes a complete set of gene alleles, copy number variation, and a reference for structural variation available for crop breeding and understanding environmental responses. The chromosome-scale genome assembly shows the nature of chromosomal fusion and translocation events during speciation, and features of rapid repetitive DNA change in terms of copy number, sequence, and genomic location, critical to understanding its role in diversity and evolution.


Subject(s)
Musa , Musaceae , Chromosomes , DNA Copy Number Variations , DNA Transposable Elements , Musa/genetics , Musaceae/genetics , Plant Breeding , Retroelements , Sequence Analysis, DNA
13.
J Clin Endocrinol Metab ; 107(6): e2553-e2562, 2022 05 17.
Article in English | MEDLINE | ID: mdl-35134944

ABSTRACT

CONTEXT: Estrogens play an essential role in reproduction. Their action is mediated by nuclear α and ß receptors (ER) and by membrane receptors. Only 3 females and 2 males, from 3 families, with a loss of ERα function have been reported to date. OBJECTIVE: We describe here a new family, in which 2 sisters display endocrine and ovarian defects of different severities despite carrying the same homozygous rare variant of ESR1. METHODS: A 36-year-old woman from a consanguineous Jordanian family presented with primary amenorrhea and no breast development, with high plasma levels of 17ß-estradiol (E2), follicle-stimulating hormone and luteinizing hormone, and enlarged multifollicular ovaries, strongly suggesting estrogen resistance. Her 18-year-old sister did not enter puberty and had moderately high levels of E2, high plasma gonadotropin levels, and normal ovaries. RESULTS: Genetic analysis identified a homozygous variant of ESR1 leading to the replacement of a highly conserved glutamic acid with a valine (ERα-E385V). The transient expression of ERα-E385V in HEK293A and MDA-MB231 cells revealed highly impaired ERE-dependent transcriptional activation by E2. The analysis of the KISS1 promoter activity revealed that the E385V substitution induced a ligand independent activation of ERα. Immunofluorescence analysis showed that less ERα-E385V than ERα-WT was translocated into the nucleus in the presence of E2. CONCLUSION: These 2 new cases are remarkable given the difference in the severity of their ovarian and hormonal phenotypes. This phenotypic discrepancy may be due to a mechanism partially compensating for the ERα loss of function.


Subject(s)
Estrogen Receptor alpha , Estrogens , Estradiol/pharmacology , Estrogen Receptor alpha/genetics , Estrogen Receptor alpha/metabolism , Estrogen Receptor beta/genetics , Estrogens/pharmacology , Female , Humans , Male , Phenotype , Transcriptional Activation
14.
Plants (Basel) ; 11(2)2022 Jan 15.
Article in English | MEDLINE | ID: mdl-35050114

ABSTRACT

The banana mild mosaic virus (BanMMV) (Betaflexiviridae, Quinvirinae, unassigned species) is a filamentous virus that infects Musa spp. and has a very wide geographical distribution. The current BanMMV indexing process for an accession requires the testing of no less than four plants cultivated in a greenhouse for at least 6 months and causes a significant delay for the distribution of the germplasm. We evaluated the sensitivity of different protocols for BanMMV detection from in vitro plants to accelerate the testing process. We first used corm tissues from 137 in vitro plants and obtained a diagnostic sensitivity (DSE) of only 61% when testing four plants per accession. After thermotherapy was carried out to eliminate BanMMV infection, the meristem was recovered and further grown in vitro. The same protocol was evaluated in parallel on the corm tissue surrounding the meristem, as a rapid screening to evaluate virus therapy success, and was compared to the results obtained following the standard protocol. The obtained results showed 28% false negatives when conducting testing from corm tissues, making this protocol unsuitable in routine processes. Furthermore, RT-PCR and high-throughput sequencing (HTS) tests were applied on tissues from the base (n = 39) and the leaves (n = 36). For RT-PCR, the average DSE per sample reached 65% from either the base or leaves. HTS was applied on 36 samples and yielded 100% diagnostic specificity (DSP) and 100% DSE, whatever the sampled tissue, allowing the identification of a new Betaflexiviridae species infecting Musa. These results suggest that a reliable diagnostic of BanMMV from in vitro plants using RT-PCR or HTS technologies might represent an efficient alternative for testing after greenhouse cultivation.

15.
Ann Rheum Dis ; 81(5): 695-709, 2022 05.
Article in English | MEDLINE | ID: mdl-34972811

ABSTRACT

OBJECTIVES: To describe the safety of vaccines against SARS-CoV-2 in people with inflammatory/autoimmune rheumatic and musculoskeletal disease (I-RMD). METHODS: Physician-reported registry of I-RMD and non-inflammatory RMD (NI-RMDs) patients vaccinated against SARS-CoV-2. From 5 February 2021 to 27 July 2021, we collected data on demographics, vaccination, RMD diagnosis, disease activity, immunomodulatory/immunosuppressive treatments, flares, adverse events (AEs) and SARS-CoV-2 breakthrough infections. Data were analysed descriptively. RESULTS: The study included 5121 participants from 30 countries, 90% with I-RMDs (n=4604, 68% female, mean age 60.5 years) and 10% with NI-RMDs (n=517, 77% female, mean age 71.4). Inflammatory joint diseases (58%), connective tissue diseases (18%) and vasculitis (12%) were the most frequent diagnostic groups; 54% received conventional synthetic disease-modifying antirheumatic drugs (DMARDs), 42% biological DMARDs and 35% immunosuppressants. Most patients received the Pfizer/BioNTech vaccine (70%), 17% AstraZeneca/Oxford and 8% Moderna. In fully vaccinated cases, breakthrough infections were reported in 0.7% of I-RMD patients and 1.1% of NI-RMD patients. I-RMD flares were reported in 4.4% of cases (0.6% severe), 1.5% resulting in medication changes. AEs were reported in 37% of cases (37% I-RMD, 40% NI-RMD), serious AEs in 0.5% (0.4% I-RMD, 1.9% NI-RMD). CONCLUSION: The safety profiles of SARS-CoV-2 vaccines in patients with I-RMD was reassuring and comparable with patients with NI-RMDs. The majority of patients tolerated their vaccination well with rare reports of I-RMD flare and very rare reports of serious AEs. These findings should provide reassurance to rheumatologists and vaccine recipients and promote confidence in SARS-CoV-2 vaccine safety in I-RMD patients.


Subject(s)
Antirheumatic Agents , COVID-19 , Musculoskeletal Diseases , Rheumatic Diseases , Aged , Antirheumatic Agents/adverse effects , COVID-19/epidemiology , COVID-19/prevention & control , COVID-19 Vaccines/adverse effects , Female , Humans , Immunosuppressive Agents/adverse effects , Male , Middle Aged , Muscular Diseases , Musculoskeletal Diseases/chemically induced , Musculoskeletal Diseases/drug therapy , Musculoskeletal Diseases/epidemiology , Registries , Rheumatic Diseases/drug therapy , Rheumatologists , SARS-CoV-2 , Vaccination/adverse effects
17.
Sex Dev ; 16(1): 64-69, 2022.
Article in English | MEDLINE | ID: mdl-34628416

ABSTRACT

Deficiency of 3ß-hydroxysteroid dehydrogenase type 2 (3ßHSD2) is a rare type of congenital adrenal hyperplasia (CAH), causing impaired steroid hormone production in both adrenals and gonads. Phenotype ranges, according to the genetic defect, from the salt-wasting form in both sexes to undervirilization in males and virilization in females. We present a 13-month-old male infant who was admitted to the hospital with signs of adrenocortical insufficiency and genital ambiguity. Clinical presentation, hormonal profile, laboratory evaluation, and karyotype were suggestive of the salt-wasting form of CAH due to 3ßHSD2 deficiency. Mutational analysis revealed a missense mutation c.776C>T (p.Thr259Met), inherited by the mother, and a frameshift deletion c.818-819delAA (p.Lys273ArgFs*7), inherited by the father. Both mutations are considered pathogenic. To our knowledge this is the first case of an undervirilized male infant with salt wasting bearing this pathogenic frameshift deletion p.Lys273ArgFs*7 in compound heterozygosity with the missense mutation p.Thr259Met.


Subject(s)
3-Hydroxysteroid Dehydrogenases/genetics , Adrenal Hyperplasia, Congenital , Adrenal Hyperplasia, Congenital/genetics , Frameshift Mutation , Humans , Male , Mutation, Missense
18.
Nucleic Acids Res ; 49(19): 10956-10974, 2021 11 08.
Article in English | MEDLINE | ID: mdl-34643711

ABSTRACT

Pseudomonas aeruginosa is a major cause of nosocomial infections, particularly in immunocompromised patients or in individuals with cystic fibrosis. Genome sequences reveal that most P. aeruginosa strains contain a significant number of accessory genes gathered in genomic islands. Those genes are essential for P. aeruginosa to invade new ecological niches with high levels of antibiotic usage, like hospitals, or to survive during host infection by providing pathogenicity determinants. P. aeruginosa pathogenicity island 1 (PAPI-1), one of the largest genomic islands, encodes several putative virulence factors, including toxins, biofilm genes and antibiotic-resistance traits. The integrative and conjugative element (ICE) PAPI-1 is horizontally transferable by conjugation via a specialized GI-T4SS, but the mechanism regulating this transfer is currently unknown. Here, we show that this GI-T4SS conjugative machinery is directly induced by TprA, a regulator encoded within PAPI-1. Our data indicate that the nucleotide associated protein NdpA2 acts in synergy with TprA, removing a repressive mechanism exerted by MvaT. In addition, using a transcriptomic approach, we unravelled the regulon controlled by Ndpa2/TprA and showed that they act as major regulators on the genes belonging to PAPI-1. Moreover, TprA and NdpA2 trigger an atypical biofilm structure and enhance ICE PAPI-1 transfer.


Subject(s)
Bacterial Proteins/genetics , Gene Transfer, Horizontal , Genomic Islands , Pseudomonas aeruginosa/genetics , Trans-Activators/genetics , Virulence Factors/genetics , Bacterial Proteins/metabolism , Biofilms/growth & development , Chromosomes, Bacterial , Conjugation, Genetic , DNA Transposable Elements , Gene Expression Profiling , Gene Expression Regulation, Bacterial , Pseudomonas aeruginosa/metabolism , Pseudomonas aeruginosa/pathogenicity , Regulon , Trans-Activators/metabolism , Transcription, Genetic , Virulence Factors/metabolism
20.
J Environ Manage ; 286: 112228, 2021 May 15.
Article in English | MEDLINE | ID: mdl-33677341

ABSTRACT

Biomass production generates land use impacts in the form of emissions from Forestry and Other Land Use (FOLU), i.e. due to changes in ecosystem carbon stocks. Recently, consumption-based accounting (CBA) approaches have emerged as alternatives to conventional production-based accounts, quantifying FOLU emissions associated with biomass consumption, for example, of particular territories. However, the quantification and allocation of FOLU emissions to individual biomass products, a fundamental part of CBA approaches, is a complex endeavour. Existing studies make diverging methodological choices, which are rarely critically discussed. In this study, we provide a structured overview of existing CBA approaches to estimating FOLU emissions. We cluster the literature in a two-by-two grid, distinguishing the primary element under investigation (impacts of changing consumption patterns in a region vs. impacts of consumption on production landscapes) and the analytical lens (prospective vs retrospective). Further, we identify three distinct dimensions which characterise the way in which different studies allocate FOLU emissions to biomass products: the choice of reference system and the spatial and temporal scales. Finally, we identify three frontiers that require future attention: (1) overcoming structural biases which underestimate FOLU emissions from territories that experienced deforestation in the distant past, (2) explicitly tackling the interdependence of proximate causes and ultimate drivers of land use change, and (3) assessing uncertainties and understanding the effects of land management. In this way, we enable a critical assessment of appropriate methods, support a nuanced interpretation of results from particular approaches as well as enhance the informative value of CBA approaches related to FOLU emissions. Our analysis contributes to discussions on sustainable land use practices with respect to biomass consumption and has implications for informing international climate policy in scenarios where consumption-based approaches are adopted in practice.


Subject(s)
Carbon , Ecosystem , Biomass , Conservation of Natural Resources , Prospective Studies , Retrospective Studies
SELECTION OF CITATIONS
SEARCH DETAIL
...