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1.
Rev Neurol (Paris) ; 178(10): 1090-1097, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36180291

RESUMO

BACKGROUND: A patient is diagnosed with multiple sclerosis once they meet the McDonald criteria of dissemination in space and time. Studies of cohorts of patients with multiple sclerosis need a reproducible way to determine an accurate date of diagnosis. We developed an automatic data-driven algorithm to determine the date when the MacDonald criteria are met, which we validated with the Registre Lorrain des Scleroses en Plaques (ReLSEP), a regional French registry of patients with multiple sclerosis. METHODS: We developed an algorithm to determine the date of diagnosis based on clinical and paraclinical data adapted from the four versions of the McDonald criteria. For validation, the dates of diagnosis generated by the algorithm were compared with those determined by an expert physician using the patients' files as the gold standard. We calculated the sensitivity and specificity of the algorithm to provide a date, then we tested the equivalence between the dates of the gold standard and the algorithm (two-one-sided-t-test). RESULTS: The algorithm used every possibility of determining dissemination in space and time according to the four sets. The sensitivity of the algorithm was 100% for the four sets, and specificity ranged between 95 and 100%. The difference between the dates of diagnosis found by the physician and the algorithm was usually less than 2 weeks (equivalence test P<0.0001). CONCLUSION: The algorithm appears to be an efficient surrogate to accurately determine dates of diagnosis of multiple sclerosis in datasets of patients.


Assuntos
Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Humanos , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Esclerose Múltipla/diagnóstico , Imageamento por Ressonância Magnética
2.
Rev Neurol (Paris) ; 178(7): 644-648, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35906139

RESUMO

BACKGROUND: Occipital lobe seizure are underrepresented in epilepsy surgery cases series. This may reflect the fear for post-surgical functional deficits but also the doubt about the ability of anatomo-electro-clinical correlations to localize precisely the epileptogenic zone in occipital lobe seizure. METHODS: In this expert opinion paper, we review first the general clinical characteristics of occipital lobe seizures, describe the repertoire of visual phenomena and oculo-motor signes in occipital seizures, describe inter-ictal and ictal EEG and finally the possible schemes of epileptogenic zone organization. RESULTS: Visual and oculo-motor semiology points towards occipital onset seizures but is neither pathognomonic nor constant. Eyes version and unilateral ictal discharge have a strong lateralizing value but inter-ictal spikes as well as eyes version can be falsely lateralizing. CONCLUSION: Although visual and oculo-motor phenomena are characteristic of occipital lobe seizures, they may be discrete, overlooked and should therefore be carefully assessed. There are no clear electro-clinical correlations of a sublobar organization of occipital seizures but the clinical pattern of propagation might help to differentiate complex occipito-temporal from occipito-parietal initial epileptogenic network.


Assuntos
Eletroencefalografia , Epilepsia , Epilepsia/cirurgia , Humanos , Lobo Occipital , Convulsões/diagnóstico , Transtornos da Visão
3.
Neurochirurgie ; 68(5): 510-517, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35533782

RESUMO

OBJECTIVE: Surgery is an effective treatment for drug-resistant temporal-lobe epilepsy (TLE), but is still underutilized for older patients because of a perceived higher rate of perioperative complications, cognitive decline and worse seizure outcome. METHODS: We retrospectively screened all patients operated on in our institution for drug-resistant TLE between 2007 and 2019. Data of patients aged ≥50 years versus <50 years at surgery were compared. The primary endpoint was freedom from disabling seizure (Engel I) at 2 years postoperatively. RESULTS: In patients aged ≥50 years (n=19), mean age at surgery was 54.9 years and mean disease duration was 36.6 years. At 2 years postoperatively, rates of Engel I seizure outcome were not significantly different between the two groups (73.9% in the <50 years group versus 94.4% in the ≥50 years group). Although surgical complications were significantly (47.4%) in the older patients, neurological deficit was permanent in only 5.3% of cases. At 1 year postoperatively, neuropsychological outcome did not significantly differ between the two groups. CONCLUSIONS: Patients aged ≥50 years had an excellent seizure outcome at 2 years postoperatively. Early postoperative complications were more frequent in patients aged ≥50 years but were mostly transient. Cognitive outcome was similar to that in younger patients. These findings strongly suggest that age ≥50 years should not be an exclusion criterion for resective epilepsy surgery in patients with drug-resistant TLE.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia do Lobo Temporal , Epilepsia Resistente a Medicamentos/psicologia , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Humanos , Estudos Retrospectivos , Convulsões/epidemiologia , Convulsões/cirurgia , Lobo Temporal/cirurgia , Resultado do Tratamento
4.
Orthop Traumatol Surg Res ; 104(6): 767-772, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29505820

RESUMO

BACKGROUND: The aim of this study was to assess the accuracy of patient-specific guided glenoid component implantation in reverse shoulder arthroplasty. MATERIALS AND METHODS: 32 reverse shoulder arthroplasties were done using preoperative 3D planning and 4 patient-specific guides to prepare the glenoid and position the glenoid component. Baseplate version, inclination and entry point as well as angulation of the screws were compared to the preoperative plan measured on CT by independent observers. RESULTS: The mean deviation in baseplate version from the preoperative plan was 4.4°+3.1° (range, 0.3°-13.7°), in baseplate inclination 5.0°+4.2° (range, 0.1° to 14.5°) and in baseplate entry point 2.4mm+1.4mm (range, 0.4° to 6.3°). The average screw superior-inferior angulation deviation for the superior screw was 2.8°+2.6° (range, 0.0°-10.1°) and 2.8+2.6° in the antero-posterior plane (range, 0.1°-11.6°). For the inferior screw the superior-inferior angle deviation was 5.3°+3.8° (range, 0.1°-15.2°); the antero-posterior angle deviation was 4.1°+3.1° (range, 0.0°-9.8°). CONCLUSIONS: Patient-specific instrumentation (PSI) for the glenoid component in reverse shoulder arthroplasty allows the shoulder surgeon to accurately execute the preoperative 3D plan. LEVEL OF EVIDENCE: Level 3.


Assuntos
Artroplastia do Ombro/métodos , Cavidade Glenoide/cirurgia , Articulação do Ombro/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Artroplastia do Ombro/instrumentação , Parafusos Ósseos , Feminino , Humanos , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Período Pré-Operatório , Estudos Prospectivos , Articulação do Ombro/cirurgia , Cirurgia Assistida por Computador , Tomografia Computadorizada por Raios X
5.
J Dairy Sci ; 100(8): 6371-6375, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28624281

RESUMO

Genetic parameters for the major milk proteins were estimated in the 3 main French dairy cattle breeds (i.e. Montbéliarde, Normande, and Holstein) as part of the PhénoFinlait program. The 6 major milk protein contents as well as the total protein content (PC) were estimated from mid-infrared spectrometry on 133,592 test-day milk samples from 20,434 cows in first lactation. Lactation means, expressed as a percentage of milk (protein contents) or of protein (protein fractions), were analyzed with an animal mixed model including fixed environmental effects (herd, year × month of calving, and spectrometer) and a random genetic effect. Genetic parameter estimates were very consistent across breeds. Heritability estimates (h2) were generally higher for protein fractions than for protein contents. They were moderate to high for αS1-casein, αS2-casein, ß-casein, κ-casein, and α-lactalbumin (0.25 < h2 < 0.72). In each breed, ß-lactoglobulin was the most heritable trait (0.61 < h2 < 0.86). Genetic correlations (rg) varied depending on how the percentage was expressed. The PC was strongly positively correlated with protein contents but almost genetically independent from protein fractions. Protein fractions were generally in opposition, except between κ-casein and α-lactalbumin (0.39 < rg < 0.46) and κ-casein and αS2-casein (0.36 < rg < 0.49). Between protein contents, rg estimates were positive, with highest values found between caseins (0.83 < rg < 0.98). In the 3 breeds, ß-lactoglobulin was negatively correlated with caseins (-0.75 < rg < -0.08), in particular with κ-casein (-0.75 < rg < -0.55). These results, obtained from a large panel of cows of the 3 main French dairy cattle breeds, show that routinely collected mid-infrared spectra could be used to modify milk protein composition by selection.


Assuntos
Lactação/genética , Proteínas do Leite/análise , Leite/química , Espectroscopia de Luz Próxima ao Infravermelho/veterinária , Animais , Cruzamento , Caseínas , Bovinos , Feminino , Genótipo
6.
Psychol Med ; 46(15): 3161-3172, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27572872

RESUMO

BACKGROUND: This is the first cross-national study of intermittent explosive disorder (IED). METHOD: A total of 17 face-to-face cross-sectional household surveys of adults were conducted in 16 countries (n = 88 063) as part of the World Mental Health Surveys initiative. The World Health Organization Composite International Diagnostic Interview (CIDI 3.0) assessed DSM-IV IED, using a conservative definition. RESULTS: Lifetime prevalence of IED ranged across countries from 0.1 to 2.7% with a weighted average of 0.8%; 0.4 and 0.3% met criteria for 12-month and 30-day prevalence, respectively. Sociodemographic correlates of lifetime risk of IED were being male, young, unemployed, divorced or separated, and having less education. The median age of onset of IED was 17 years with an interquartile range across countries of 13-23 years. The vast majority (81.7%) of those with lifetime IED met criteria for at least one other lifetime disorder; co-morbidity was highest with alcohol abuse and depression. Of those with 12-month IED, 39% reported severe impairment in at least one domain, most commonly social or relationship functioning. Prior traumatic experiences involving physical (non-combat) or sexual violence were associated with increased risk of IED onset. CONCLUSIONS: Conservatively defined, IED is a low prevalence disorder but this belies the true societal costs of IED in terms of the effects of explosive anger attacks on families and relationships. IED is more common among males, the young, the socially disadvantaged and among those with prior exposure to violence, especially in childhood.


Assuntos
Alcoolismo/epidemiologia , Transtorno Depressivo/epidemiologia , Transtornos Disruptivos, de Controle do Impulso e da Conduta/epidemiologia , Trauma Psicológico/epidemiologia , Delitos Sexuais/estatística & dados numéricos , Violência/estatística & dados numéricos , Adolescente , África/epidemiologia , Idade de Início , Ásia/epidemiologia , Comorbidade , Estudos Transversais , Manual Diagnóstico e Estatístico de Transtornos Mentais , Europa (Continente)/epidemiologia , Feminino , Humanos , América Latina/epidemiologia , Masculino , Oriente Médio/epidemiologia , Prevalência , Fatores de Risco , Inquéritos e Questionários , Estados Unidos/epidemiologia , Adulto Jovem
7.
J Dairy Sci ; 99(10): 8203-8215, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27474979

RESUMO

In the context of the PhénoFinLait project, a genome-wide analysis was performed to detect quantitative trait loci (QTL) that affect milk protein composition estimated using mid-infrared spectrometry in the Montbéliarde (MO), Normande (NO), and Holstein (HO) French dairy cattle breeds. The 6 main milk proteins (α-lactalbumin, ß-lactoglobulin, and αS1-, αS2-, ß-, and κ-caseins) expressed as grams per 100g of milk (% of milk) or as grams per 100g of protein (% of protein) were estimated in 848,068 test-day milk samples from 156,660 cows. Genotyping was performed for 2,773 MO, 2,673 NO, and 2,208 HO cows using the Illumina BovineSNP50 BeadChip (Illumina Inc., San Diego, CA). Individual test-day records were adjusted for environmental effects and then averaged per cow to define the phenotypes analyzed. Quantitative trait loci detection was performed within each breed using a linkage disequilibrium and linkage analysis approach. A total of 39 genomic regions distributed on 20 of the 29 Bos taurus autosomes (BTA) were significantly associated with milk protein composition at a genome-wide level of significance in at least 1 of the 3 breeds. The 9 most significant QTL were located on BTA2 (133 Mbp), BTA6 (38, 47, and 87 Mbp), BTA11 (103 Mbp), BTA14 (1.8 Mbp), BTA20 (32 and 58 Mbp), and BTA29 (8 Mbp). The BTA6 (87 Mbp), BTA11, and BTA20 (58 Mbp) QTL were found in all 3 breeds, and they had highly significant effects on κ-casein, ß-lactoglobulin, and α-lactalbumin, expressed as a percentage of protein, respectively. Each of these QTL explained between 13% (BTA14) and 51% (BTA11) of the genetic variance of the trait. Many other QTL regions were also identified in at least one breed. They were located on 14 additional chromosomes (1, 3, 4, 5, 7, 15, 17, 19, 21, 22, 24, 25, 26, and 27), and they explained 2 to 8% of the genetic variance of 1 or more protein composition traits. Concordance analyses, performed between QTL status and sequence-derived polymorphisms from 13 bulls, revealed previously known causal polymorphisms in LGB (BTA11) and GHR (BTA20 at 32 Mbp) and excluded some other previously described mutations. These results constitute a first step in identifying causal mutations and using routinely collected mid-infrared predictions in future genomic selection programs to improve bovine milk protein composition.


Assuntos
Proteínas do Leite , Locos de Características Quantitativas , Animais , Cruzamento , Bovinos , Feminino , Genótipo , Masculino , Leite/química , Polimorfismo de Nucleotídeo Único
8.
Orthop Traumatol Surg Res ; 102(5): 563-7, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27133977

RESUMO

INTRODUCTION: The main objective of the study was to assess return to sports in recreational athletes after arthroscopic repair of rotator cuff tear (RCT). MATERIAL AND METHODS: A retrospective single-center study included all recreational athletes operated between 2008 and 2012 for arthroscopic repair of RCT, with regular sports activity, and aged less than 70 years. All were recontacted at a minimum follow-up of 2 years. The main outcome was return to sports (yes/no). The secondary criteria were return to sports, time to return to sports, number of hours per week of sports activity, and at the last follow-up the subjective assessment of sports level, patient satisfaction, and the Western Ontario Rotator Cuff (WORC) Index. RESULTS: Seventy-six patients (37 females, 39 males) with a mean age of 57.0±7.3 years were included. Of these 76 patients, 53 (69.7%) patients participated in a sport that specifically involved the upper limb. The mean follow-up was 45±14 months. Postoperatively, 67 of 76 (88.2%) patients returned to a sports activity, the same sport for 52 out of 76 (68.4%). The mean time to return to sports was 6±4.9 months. For patients who had taken up their sport again, the mean number of hours a week was not significantly modified (P=0.58). At the last follow-up, the subjective sports level was judged better or identical to the preoperative level by 52 of 67 (77.6%) patients. The factors significantly associated with absence of return to the previous sport were pain symptoms evolving for more than 9 months before surgery (OR=3.6 [1.01-12.5], P=0.04) and preoperative sports intensity less than 2h/week (OR=4.1 [1.4-12.3], P=0.01). At the last follow-up, the functional improvement evaluated by the WORC Index was strongly significant (P<0.00001) and 73 of 76 (96%) patients were satisfied. CONCLUSION: The majority of the recreational athletes returned to sports after arthroscopic rotator cuff repair, most often at the same level and with equivalent intensity compared to before surgery. LEVEL OF EVIDENCE: IV, retrospective study.


Assuntos
Artroscopia , Traumatismos em Atletas/cirurgia , Volta ao Esporte , Lesões do Manguito Rotador/cirurgia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Ontário , Satisfação do Paciente , Estudos Retrospectivos , Resultado do Tratamento
9.
Oncogene ; 35(38): 5033-42, 2016 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-27041564

RESUMO

Little is known about the biological role of the phospholipase A2 receptor (PLA2R1) transmembrane protein. In recent years, PLA2R1 has been shown to have an important role in regulating tumor-suppressive responses via JAK2 activation, but the underlying mechanisms are largely undeciphered. In this study, we observed that PLA2R1 increases the mitochondrial content, judged by increased levels of numerous mitochondrial proteins, of the mitochondrial structural component cardiolipin, of the mitochondrial DNA content, and of the mitochondrial DNA replication and transcription factor TFAM. This effect of PLA2R1 relies on a transcriptional program controlled by the estrogen-related receptor alpha1 (ERRα) mitochondrial master regulator. Expression of ERRα and of its nucleus-encoded mitochondrial targets is upregulated upon PLA2R1 ectopic expression, and this effect is mediated by JAK2. Conversely, downregulation of PLA2R1 decreases the level of ERRα and of its nucleus-encoded mitochondrial targets. Finally, blocking the ERRα-controlled mitochondrial program largely inhibits the PLA2R1-induced tumor-suppressive response. Together, our data document ERRα and its mitochondrial program as downstream effectors of the PLA2R1-JAK2 pathway leading to oncosuppression.


Assuntos
Janus Quinase 2/genética , Neoplasias/genética , Receptores de Estrogênio/biossíntese , Receptores da Fosfolipase A2/genética , Linhagem Celular Tumoral , Proteínas de Ligação a DNA/genética , Regulação Neoplásica da Expressão Gênica , Genes Supressores de Tumor , Humanos , Mitocôndrias/genética , Mitocôndrias/metabolismo , Proteínas Mitocondriais/genética , Neoplasias/patologia , Receptores de Estrogênio/genética , Fatores de Transcrição/genética , Ativação Transcricional/genética , Receptor ERRalfa Relacionado ao Estrogênio
10.
Vet Parasitol ; 220: 54-8, 2016 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-26995721

RESUMO

Angiostrongylosis is potentially fatal parasitic nematode infection affecting dogs which can be difficult to diagnose. In recent years several microscopical, serological and molecular detection methods have been developed, however there are few studies that have compared the relative performance of these methods. Screening necropsy material from an opportunistic sample of 140 foxes (82 of which were considered to be infected with Angiostrongylus vasorum), indicated sensitivities of 84.1% for dissection and visual examination of plucks, 69.5% for nested PCR of an 18S rRNA fragment and 76.8% for a canine A. vasorum antigen detection test (IDEXX Angio Detect) of tissue fluid samples respectively. Agreement between the tests ranged from 45.6 to 79.7%. A novel nested PCR-RFLP for the detection and identification of canid lungworm spp. is described.


Assuntos
Dissecação/normas , Ensaio de Imunoadsorção Enzimática/normas , Raposas/parasitologia , Técnicas de Diagnóstico Molecular/normas , Parasitologia/métodos , Infecções por Strongylida/diagnóstico , Angiostrongylus/genética , Angiostrongylus/isolamento & purificação , Animais , Antígenos de Helmintos/análise , RNA Ribossômico 18S/genética , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
11.
Parasitology ; 143(5): 588-93, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26940534

RESUMO

The reported incidence of the metastrongylid nematode Angiostrongylus vasorum, that infects dogs and other canids, is increasing worldwide outside recognized endemic foci. This apparent expansion of the parasite's range is causing concern to veterinary clinicians as the disease caused in dogs can be life threatening and its treatment is not straightforward. The red fox is thought to be a reservoir host for dogs. To investigate the spatial distribution of infection in foxes in Ireland, the hearts and lungs of 542 foxes from all over Ireland were examined. The incidence of infection was found to be 39·9% [95% confidence interval (CI) 35·7-44·1] with positive samples occurring in each of the country's 26 counties. This report confirms that the parasite is endemic in Ireland and the overall prevalence is the second highest in Europe. This is the first survey of A. vasorum infection in Irish foxes and highlights the potential exposure of the Irish dog population to high risk of cross-infection. Additionally, Crenosoma vulpis was found in seven of the foxes, a parasite not previously reported in the Irish fox.


Assuntos
Angiostrongylus/isolamento & purificação , Raposas/parasitologia , Infecções por Strongylida/veterinária , Animais , Doenças Endêmicas/veterinária , Coração/parasitologia , Irlanda/epidemiologia , Pulmão/parasitologia , Prevalência , Infecções por Strongylida/epidemiologia , Infecções por Strongylida/parasitologia , Traqueia/parasitologia
12.
Oncogene ; 35(12): 1596-601, 2016 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-26073088

RESUMO

Oncogenic-stress-induced senescence (OIS) is a stress response allowing normal cells, when receiving oncogenic signals, to stably arrest their proliferation. OIS thus acts to prevent aberrant cell proliferation and tumor formation. To identify novel tumor suppressive pathways, we have recently completed a loss-of-function genetic screen to identify novel genes promoting escape from OIS and thus, potentially, tumor formation when their functions are lost. Using this approach, we unexpectedly found that loss of function of the multidrug resistance protein 3 (MRP3 or ABCC3) promotes escape from OIS in human epithelial cells. Importantly, ABCC3 expression is reduced in human skin tumors, and ABCC3-knockout mice display increased sensitivity to RAS-induced skin carcinogenesis, concomitantly with decreased OIS. ABCC3 participates in resistance to chemotherapy via its transporter activity. Our data show that this transporter activity is involved in ABCC3-induced senescence, demonstrating that this protein has a complex role in cancer, since its loss of function may promote escape from OIS and tumor formation whereas its gain of function promotes resistance to chemotherapy.


Assuntos
Subfamília B de Transportador de Cassetes de Ligação de ATP/fisiologia , Neoplasias/fisiopatologia , Animais , Células Cultivadas , Camundongos
13.
Gene Ther ; 21(9): 828-39, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25030611

RESUMO

Recombinant adeno-associated viral vectors (rAAVs) are used for therapeutic gene transfer in skeletal muscle, but it is unclear if immune reactivity to gene transfer and persistence of transgene are affected by pathologic conditions such as muscular dystrophy. Thus, we compared dystrophic mice devoid of α-sarcoglycan with healthy mice to characterize immune cell activation and cellular populations contributing to the loss of gene-modified myofibers. Following rAAV2/1 delivery of an immunogenic α-sarcoglycan reporter transgene in the muscle, both strains developed strong CD4 and CD8 T-cell-mediated immune responses in lymphoid organs associated with muscle CD3+ T and CD11b+ mononuclear cell infiltrates. Selective cell subset depletion models revealed that CD4+ T cells were essential for transgene rejection in both healthy and pathologic mice, but macrophages and CD8+ T cells additionally contributed as effector cells of transgene rejection only in dystrophic mice. Vectors restricting transgene expression in antigen-presenting cells showed that endogenous presentation of transgene products was the sole mechanism responsible for T-cell priming in normal mice, whereas additional and protracted antigenic presentation occurred in dystrophic animals, leading to secondary CD4+ T-cell activation and failure to maintain transgene expression. Therefore, the dystrophic environment diversifies cellular immune response mechanisms induced by gene transfer, with a negative outcome.


Assuntos
Dependovirus/genética , MicroRNAs/genética , Músculos/imunologia , Distrofia Muscular Animal/imunologia , Sarcoglicanas/genética , Animais , Células Apresentadoras de Antígenos/metabolismo , Antígeno CD11b/metabolismo , Linfócitos T CD4-Positivos/metabolismo , Linfócitos T CD8-Positivos/metabolismo , Dependovirus/imunologia , Técnicas de Transferência de Genes , Vetores Genéticos/administração & dosagem , Macrófagos/metabolismo , Camundongos , Camundongos Endogâmicos C57BL , Músculos/patologia , Distrofia Muscular Animal/terapia , Sarcoglicanas/metabolismo
14.
J Dairy Sci ; 97(5): 3142-55, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24612796

RESUMO

Genetic parameters for 18 fatty acids or groups of fatty acids (FA), milk production traits, and somatic cell score (SCS) were estimated by restricted maximum likelihood with a repeatability animal model, using 45,259 test-day records from the first lactations of 13,677 Alpine and Saanen goats. Fatty acid data were collected as part of an extensive recording scheme (PhénoFinLait), and sample testing was based on mid-infrared spectra estimates. The total predicted FA content in milk was approximately 3.5% in Alpine and Saanen goats. Goat milk fat showed similar saturated FA to cattle and sheep, but higher contents of capric (C10:0) FA (~ 9.7 g/100g of milk fat). Heritability estimates ranged from 0.18 to 0.49 for FA and estimates were generally higher when FA were expressed in g/100g of milk fat compared with g/100g of milk. In general, the 3 specific short- and medium-chain goat FA, caproic acid (C6:0), caprylic acid (C8:0), and especially capric (C10:0) acid, had among the highest heritability estimates (from 0.21 to 0.37; average of 0.30). Heritability estimates for milk yield, fat and protein contents, and SCS were 0.22, 0.23, 0.39, 0.09, and 0.24, 0.20, 0.40, and 0.15, in Alpine and Saanen goats, respectively. When FA were expressed in g/100g of milk, genetic correlations between fat content and all FA were high and positive. Genetic correlations between the fat content and FA groups expressed in g/100g of fat led to further investigation of the association between fat content and FA profile within milk fat. Accordingly, in both Saanen and Alpine breeds, no significant genetic correlations were found between fat content and C16:0, whereas the correlations between fat content and specific goat FA (C6:0 to C10:0) were positive (0.17 to 0.59). In addition, the genetic correlation between fat content and C14:0 was negative (-0.17 to -0.35). The values of the genetic correlations between protein content and individual FA were similar, although genetic correlations between protein content and FA groups were close to zero. Genetic correlations of milk yield or SCS with the FA profile were weak. Results for genetic parameters for FA, however, should be further validated, because the low predicting ability of certain FA using mid-infrared spectra and the limited calibration data set might have resulted in low accuracy. In conclusion, our results indicated substantial genetic variation in goat milk FA that supported their amenability for genetic selection. In addition, selection on protein and fat contents is not expected to have an undesirable effect on the FA profile in regard to specificity of goat products and human health.


Assuntos
Ácidos Graxos/genética , Cabras/genética , Leite/química , Animais , Cruzamento , Calibragem , Contagem de Células , Gorduras/análise , Ácidos Graxos/análise , Feminino , França , Variação Genética , Lactação/genética , Leite/citologia , Proteínas do Leite/análise , Paridade , Fenótipo , Característica Quantitativa Herdável , Espectrofotometria Infravermelho
16.
Gene Ther ; 18(5): 479-87, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21160533

RESUMO

Lentiviral vectors are effective tools for gene transfer and integrate variable numbers of proviral DNA copies in variable proportions of cells. The levels of transduction of a cellular population may therefore depend upon experimental parameters affecting the frequency and/or the distribution of vector integration events in this population. Such analysis would require measuring vector copy numbers (VCN) in individual cells. To evaluate the transduction of hematopoietic progenitor cells at the single-cell level, we measured VCN in individual colony-forming cell (CFC) units, using an adapted quantitative PCR (Q-PCR) method. The feasibility, reproducibility and sensitivity of this approach were tested with characterized cell lines carrying known numbers of vector integration. The method was validated by correlating data in CFC with gene expression or with calculated values, and was found to slightly underestimate VCN. In spite of this, such Q-PCR on CFC was useful to compare transduction levels with different infection protocols and different vectors. Increasing the vector concentration and re-iterating the infection were two different strategies that improved transduction by increasing the frequency of transduced progenitor cells. Repeated infection also augmented the number of integrated copies and the magnitude of this effect seemed to depend on the vector preparation. Thus, the distribution of VCN in hematopoietic colonies may depend upon experimental conditions including features of vectors. This should be carefully evaluated in the context of ex vivo hematopoietic gene therapy studies.


Assuntos
Vetores Genéticos , Células-Tronco Hematopoéticas , Lentivirus/genética , Antígenos CD34/metabolismo , Linhagem Celular , Técnicas de Transferência de Genes , Humanos , Células-Tronco , Transdução Genética , Integração Viral
17.
Chemistry ; 16(4): 1378-87, 2010 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-19950335

RESUMO

The impact of actinides on living organisms has been the subject of numerous studies since the 1950s. From a general point of view, these studies show that actinides are chemical poisons as well as radiological hazards. Actinides in plasma are assumed to be mainly complexed to transferrin, the iron carrier protein. This paper casts light on the uptake of actinides(IV) (thorium, neptunium, plutonium) by transferrin, focusing on the pH dependence of the interaction and on a molecular description of the cation binding site in the protein. Their behavior is compared with that of iron(III), the endogenous transferrin cation, from a structural point of view. Complementary spectroscopic techniques (UV/Vis spectrophotometry, microfiltration coupled with gamma spectrometry, and X-ray absorption fine structure) have been combined in order to propose a structural model for the actinide-binding site in transferrin. Comparison of our results with data available on holotransferrin suggests some similarities between the behavior of Fe(III) and Np(IV)/Pu(IV)/ Np(IV) is not complexed at pH <7, whereas at pH approximately 7.4 complexation can be regarded as quantitative. This pH effect is consistent with the in vivo transferrin "cycle". Pu(IV) also appears to be quantitatively bound by apotransferrin at around pH approximately 7.5, whereas Th(IV) was never complexed under our experimental conditions. EXAFS data at the actinide edge have allowed a structural model of the actinide binding site to be elaborated: at least one tyrosine residue could participate in the actinide coordination sphere (two for iron), forming a mixed hydroxo-transferrin complex in which actinides are bound with transferrin both through An-tyrosine and through An--OH bonds. A description of interatomic distances is provided.


Assuntos
Elementos da Série Actinoide/química , Ferro/química , Transferrina/química , Elementos da Série Actinoide/metabolismo , Sítios de Ligação , Humanos , Concentração de Íons de Hidrogênio , Ferro/sangue , Ferro/metabolismo , Netúnio/química , Netúnio/metabolismo , Plutônio/química , Plutônio/metabolismo , Espectrometria gama , Espectrofotometria Ultravioleta , Tório/química , Tório/metabolismo , Transferrina/fisiologia
18.
Arch Pediatr ; 16(8): 1142-5, 2009 Aug.
Artigo em Francês | MEDLINE | ID: mdl-19577441

RESUMO

Children and adults may experience neuropsychiatric disorders during glucocorticoid treatment, most of which are reversible upon drug withdrawal. Whereas the occurrence of these disorders is well documented in teenagers, only a few cases have been reported in children under 3 years of age. We report on severe neuropsychiatric disorders that occurred in a 27-month-old child during glucocorticoid treatment for asthma that did not regress when treatment was stopped. The psychiatric symptoms suggested autism and were associated with deterioration of the child-mother relationship. This led the medical staff to initiate a dual therapy (conducted by a psychiatrist and a speech therapist) focused on the restoration of the maternal bond. A dramatic improvement in both the child's and the mother's behavior was observed within a few months. Severe psychiatric disorders induced by glucocorticoids can occur in young children and be worsened by environmental factors. The quality of the child-parent relationship should be kept in mind during the management of drug-induced psychiatric disorders.


Assuntos
Antiasmáticos/efeitos adversos , Anti-Inflamatórios/efeitos adversos , Asma/tratamento farmacológico , Transtorno Autístico/induzido quimicamente , Betametasona/efeitos adversos , Antiasmáticos/administração & dosagem , Anti-Inflamatórios/administração & dosagem , Transtorno Autístico/diagnóstico , Transtorno Autístico/patologia , Transtorno Autístico/terapia , Betametasona/administração & dosagem , Pré-Escolar , Terapia Combinada , Relação Dose-Resposta a Droga , Esquema de Medicação , Educação , Humanos , Masculino , Relações Mãe-Filho , Apego ao Objeto , Psicoterapia , Meio Social , Fonoterapia
19.
Heredity (Edinb) ; 102(2): 113-9, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18971953

RESUMO

Previous study on food plants has shown that near infrared (NIR) spectral methods seem effective for authenticating coffee varieties. We confirm that result, but also show that inter-variety differences are not stable from one harvest to the next. We put forward the hypothesis that the spectral signature is affected by environmental factors. The purpose of this study was to find a way of reducing this environmental variance to increase the method's reliability and to enable practical application in breeding. Spectral collections were obtained from ground green coffee samples from multilocation trials. Two harvests of bean samples from 11 homozygous introgressed lines, and the cv 'Caturra' as the control, supplied from three different sites, were compared. For each site, squared Euclidean distances among the 12 varieties were estimated from the NIR spectra. Matrix correlation coefficients were assessed by the Mantel test. We obtained very good stability (high correlations) for inter-variety differences across the sites when using the two harvests data. If only the most heritable zones of the spectrum were used, there was a marked improvement in the efficiency of the method. This improvement was achieved by treating the spectrum as succession of phenotypic variables, each resulting from an environmental and genetic effect. Heritabilities were calculated with confidence intervals. A near infrared spectroscopy signature, acquired over a set of harvests, can therefore effectively characterize a coffee variety. We indicated how this typical signature can be used in breeding to assist in selection.


Assuntos
Cruzamento , Coffea/química , Ecossistema , Coffea/classificação , Coffea/genética , Coffea/fisiologia , Meio Ambiente , Genótipo , Fenótipo , Filogenia , Característica Quantitativa Herdável , Espectroscopia de Luz Próxima ao Infravermelho
20.
J Gynecol Obstet Biol Reprod (Paris) ; 34(1 Pt 1): 53-61, 2005 Feb.
Artigo em Francês | MEDLINE | ID: mdl-15767918

RESUMO

OBJECTIVE: The aim of this article is to describe conditions of abortions practices in France. MATERIALS AND METHODS: The study was based on the COCON survey. This survey was carried out among a representative sample of 2863 women aged 18 to 44 living in metropolitan France. Women were interviewed by telephone. The analysis was performed among a sub-sample of 320 women who had had an abortion between 1996 and 2000. Results were compared with those of the national notification of induced abortions. RESULTS: Altogether, the way in which abortions were carried out was appropriate, but differences were observed according to the type of hospital: access to care was easier in the private sector; however a pre-abortion interview was less often carried out and a post-abortion interview less often proposed in the private sector. Besides, in both sectors, women were rarely allowed to choose the abortion technique, or the type of anesthesia in the case of a surgical abortion. CONCLUSION: The COCON study is the first population based survey describing the characteristics of care regarding voluntary abortion. It shows the persistence of differences in practices between the public and the private sectors.


Assuntos
Aborto Induzido/estatística & dados numéricos , Adolescente , Adulto , Anticoncepção/estatística & dados numéricos , Feminino , França , Humanos , Gravidez , Inquéritos e Questionários
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