LIVIVO - Search results -

Search results

Result 1 - 10 of total 10

Search options

Article: Impact of the COVID-19 pandemic on children with psoriasis.

Beytout, Q / Pepiot, J / Maruani, A / Devulder, D / Aubert, R / Beylot-Barry, M / Amici, J-M / Jullien, D / Mahé, E

Annales de dermatologie et de venereologie

2021 Volume 148, Issue 2, Page(s) 106–111

Abstract: ... because of their psoriasis, e.g., application of alcohol-based hand sanitizers (47.6%), handwashing routines (42.9%), and ...

Abstract	Background: Children with psoriasis may have been directly impacted by the COVID-19 pandemic and their illness may also have affected their ability to follow preventive measures. Objective: To investigate the impact of the COVID-19 pandemic on children with psoriasis. Methods: A survey of children (<18 years) with psoriasis, conducted from June 10 to June 29, 2020. Results: In total, 92 children were included: 71.7% had psoriasis lesions at the time of home lockdown while 45.2% were receiving systemic treatments, and two contracted COVID-19. During lockdown, psoriasis worsened in 47.3% of the children and 18.8% stopped their systemic treatments, mainly for reasons linked to the pandemic. A total of 41.3% had a consultation for psoriasis during lockdown (71.1% by teleconsultation): 39.5% due to worsening of their psoriasis and 21.1% for pandemic-related issues. Among patients not having a consultation during lockdown, 27.5% had a cancellation by the doctor and 9.3% had concerns over going to see the doctor. Finally, 22.8% of patients reported finding it difficult to respect hygiene measures because of their psoriasis, e.g., application of alcohol-based hand sanitizers (47.6%), handwashing routines (42.9%), and wearing a mask (28.6%). Conclusions: This study demonstrates the major clinical impact of the COVID-19 pandemic on children with psoriasis. Teleconsultations played a key role in patient management as regards patient monitoring, provision of information, and renewal of treatments. It is vital that we learn from these data to improve and adapt the monitoring of chronic dermatoses in both children and adults in the event of a future health crisis.
MeSH term(s)	Adolescent ; COVID-19/epidemiology ; Child ; Communicable Disease Control ; Female ; France/epidemiology ; Gloves, Protective/adverse effects ; Hand Sanitizers/adverse effects ; Humans ; Male ; Masks/adverse effects ; Pandemics ; Psoriasis/epidemiology ; Remote Consultation/statistics & numerical data ; Severity of Illness Index ; Surveys and Questionnaires
Chemical Substances	Hand Sanitizers
Language	English
Publishing date	2021-02-23
Publishing country	France
Document type	Journal Article
ZDB-ID	391805-1
ISSN	2214-5451 ; 0151-9638
ISSN (online)	2214-5451
ISSN	0151-9638
DOI	10.1016/j.annder.2021.01.005
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui VI Zs.30: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article: The puzzle of chronic pain: will genetics force a major breakthrough in the pathophysiology and the treatment of chronic pain?

Devulder, J E R

Acta clinica Belgica

2006 Volume 61, Issue 1, Page(s) 1–4

MeSH term(s)	Analgesics/therapeutic use ; Animals ; Catechol O-Methyltransferase/genetics ; Chronic Disease ; Female ; Forecasting ; Genetic Predisposition to Disease ; Humans ; Male ; Pain/drug therapy ; Pain/genetics ; Pain/physiopathology ; Pain Measurement ; Polymorphism, Genetic ; Risk Assessment ; Severity of Illness Index
Chemical Substances	Analgesics ; Catechol O-Methyltransferase (EC 2.1.1.6)
Language	English
Publishing date	2006-04-29
Publishing country	England
Document type	Comparative Study ; Editorial
ZDB-ID	390201-8
ISSN	2295-3337 ; 1784-3286 ; 0001-5512
ISSN (online)	2295-3337
ISSN	1784-3286 ; 0001-5512
DOI	10.1179/acb.2006.001
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ua VI Zs.283: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Postherpetic ophthalmic neuralgia.

Devulder, J E R

Bulletin de la Societe belge d'ophtalmologie

2002 , Issue 285, Page(s) 19–23

Abstract: Postherpetic ophthalmic neuralgia is the final stage of a varicella zoster infection. Many years after chickenpox infection, patients can develop herpes zoster in one or more specific dermatomal regions. The ophthalmic branch of the trigeminal nerve and ... ...

Abstract	Postherpetic ophthalmic neuralgia is the final stage of a varicella zoster infection. Many years after chickenpox infection, patients can develop herpes zoster in one or more specific dermatomal regions. The ophthalmic branch of the trigeminal nerve and the thoracic nerves are most commonly affected. Younger patients are less prone to postherpetic neuralgia than the older. Patients with a depression in cell-mediated immunity are more susceptible to develop postherpetic pain. Postherpetic ophthalmic neuralgia is a neuropathic pain and can be treated by anticonvulsants and tricyclic antidepressants. Neurodestructive procedures are not recommended as they enhance destruction and neuropathic pain. Sympathetic nerve blocks can be helpful. Neurostimulation is the last therapeutic resort.
MeSH term(s)	Anesthetics, Local/therapeutic use ; Anticonvulsants/therapeutic use ; Antidepressive Agents, Tricyclic/therapeutic use ; Chickenpox/complications ; Child ; Humans ; Middle Aged ; Ophthalmic Nerve ; Transcutaneous Electric Nerve Stimulation ; Trigeminal Neuralgia/diagnosis ; Trigeminal Neuralgia/etiology ; Trigeminal Neuralgia/therapy
Chemical Substances	Anesthetics, Local ; Anticonvulsants ; Antidepressive Agents, Tricyclic
Language	English
Publishing date	2002
Publishing country	Belgium
Document type	Journal Article ; Review
ZDB-ID	441126-2
ISSN	0081-0746
ISSN	0081-0746
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 312: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Paulet, Alix / Bennett-Ness, Cavan / Ageorges, Faustine / Trost, Detlef / Green, Andrew / Goudie, David / Jewell, Rosalyn / Kraatari-Tiri, Minna / Piard, Juliette / Coubes, Christine / Lam, Wayne / Lynch, Sally Ann / Groeschel, Samuel / Ramond, Francis / Fluss, Joël / Fagerberg, Christina / Brasch Andersen, Charlotte / Varvagiannis, Konstantinos / Kleefstra, Tjitske /

Gérard, Bénédicte / Fradin, Mélanie / Vitobello, Antonio / Tenconi, Romano / Denommé-Pichon, Anne-Sophie / Vincent-Devulder, Aline / Haack, Tobias / Marsh, Joseph A / Laulund, Lone Walentin / Grimmel, Mona / Riess, Angelika / de Boer, Elke / Padilla-Lopez, Sergio / Bakhtiari, Somayeh / Ostendorf, Adam / Zweier, Christiane / Smol, Thomas / Willems, Marjolaine / Faivre, Laurence / Scala, Marcello / Striano, Pasquale / Bagnasco, Irene / Koboldt, Daniel / Iascone, Maria / Suerink, Manon / Kruer, Michael C / Levy, Jonathan / Verloes, Alain / Abbott, Catherine M / Ruaud, Lyse

European journal of human genetics : EJHG

2024

Abstract: Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting EEF1A2 have been ... ...

Abstract	Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting EEF1A2 have been described in 42 individuals with a severe neurodevelopmental phenotype including epileptic encephalopathy and moderate to profound intellectual disability (ID), with neurological regression in some patients. Through international collaborative call, we collected 26 patients with EEF1A2 variants and compared them to the literature. Our cohort shows a significantly milder phenotype. 83% of the patients are walking (vs. 29% in the literature), and 84% of the patients have language skills (vs. 15%). Three of our patients do not have ID. Epilepsy is present in 63% (vs. 93%). Neurological examination shows a less severe phenotype with significantly less hypotonia (58% vs. 96%), and pyramidal signs (24% vs. 68%). Cognitive regression was noted in 4% (vs. 56% in the literature). Among individuals over 10 years, 56% disclosed neurocognitive regression, with a mean age of onset at 2 years. We describe 8 novel missense variants of EEF1A2. Modeling of the different amino-acid sites shows that the variants associated with a severe phenotype, and the majority of those associated with a moderate phenotype, cluster within the switch II region of the protein and thus may affect GTP exchange. In contrast, variants associated with milder phenotypes may impact secondary functions such as actin binding. We report the largest cohort of individuals with EEF1A2 variants thus far, allowing us to expand the phenotype spectrum and reveal genotype-phenotype correlations.
Language	English
Publishing date	2024-02-15
Publishing country	England
Document type	Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-024-01560-8
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3589: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

European journal of human genetics : EJHG

2024

Language	English
Publishing date	2024-04-03
Publishing country	England
Document type	Published Erratum
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-024-01606-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3589: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Prévalence des anticorps antiphospholipides dans la maladie de Horton et dans la pseudo-polyarthrite rhizomélique.

Hulin, C / Hachulla, E / Michon-Pasturel, U / Hatron, P Y / Masy, E / Gillot, J M / Caron, C / Arvieux, J / Flipo, R M / Devulder, B

La Revue de medecine interne

1999 Volume 20, Issue 8, Page(s) 659–663

Abstract: Purpose: Antiphospholipid antibodies (APL) are frequently observed in the course of giant cell arteritis and polymyalgia rheumatica. However, their role and relationships with potential ischemic events are still debated.: Methods: To determine the ... ...

Title translation	Prevalence of antiphospholipid antibodies in Horton's disease and in polymyalgia rheumatica.
Abstract	Purpose: Antiphospholipid antibodies (APL) are frequently observed in the course of giant cell arteritis and polymyalgia rheumatica. However, their role and relationships with potential ischemic events are still debated. Methods: To determine the prevalence of APL in relation with ischemic events, 62 patients with giant cell arteritis and/or polymyalgia rheumatica were retrospectively studied. Results: Before corticosteroid treatment 41% of the 51 patients with giant cell arteritis and 64% of the 11 patients with isolated polymyalgic rheumatica had high IgG ACL levels, with a frequency significantly higher than that (15.6%) of the control group which was composed of healthy elderly. IgM ACL were found in only two patients with giant cell arteritis. There was no correlation between the occurrence of an ischemic event (22 ischemic events in the 51 patients with giant cell arteritis) and the presence of ACL, even though the latter were more frequently observed in the giant cell arteritis group (52% versus 41% in non ischemic patients). The prevalence of ACL increased, reaching 59% if lupus anticoagulant was associated, but the difference was not significant. ACL disappeared soon after corticosteroid therapy had been initiated. Conclusion: Though ACL are frequently seen in giant cell arteritis and/or polymyalgia rheumatica, they are not related to ischemic events and disappear rapidly after corticosteroid treatment.
MeSH term(s)	Adrenal Cortex Hormones/therapeutic use ; Aged ; Aged, 80 and over ; Antibodies, Antiphospholipid/blood ; Female ; Giant Cell Arteritis/blood ; Giant Cell Arteritis/drug therapy ; Giant Cell Arteritis/immunology ; Humans ; Immunoglobulin G/blood ; Immunoglobulin M/blood ; Male ; Middle Aged ; Polymyalgia Rheumatica/blood ; Polymyalgia Rheumatica/immunology
Chemical Substances	Adrenal Cortex Hormones ; Antibodies, Antiphospholipid ; Immunoglobulin G ; Immunoglobulin M
Language	French
Publishing date	1999-08
Publishing country	France
Document type	English Abstract ; Journal Article
ZDB-ID	604679-4
ISSN	1768-3122 ; 0248-8663
ISSN (online)	1768-3122
ISSN	0248-8663
DOI	10.1016/s0248-8663(99)80485-8
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 2451: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Prognostic factors and long-term evolution in a cohort of 133 patients with giant cell arteritis.

Hachulla, E / Boivin, V / Pasturel-Michon, U / Fauchais, A L / Bouroz-Joly, J / Perez-Cousin, M / Hatron, P Y / Devulder, B

Clinical and experimental rheumatology

2001 Volume 19, Issue 2, Page(s) 171–176

Abstract: ... used (i.e. prednisone or prednisolone). Only a slight correlation in the initial ... erythrocyte sedimentation rate (ESR) was observed (p < 0.01, r = 0.23). In 56 patients free of treatment (mean treatment duration ...

Abstract	Objective: Survival in patients with giant cell arteritis (GCA) has generally been found to be similar to that of the general population. The aim of our study was to assess outcome and survival of different subgroups of patients with GCA in relation to clinical, biological data or treatment modalities. Methods: From 1977 and 1995, 176 patients were treated in the Department of Internal Medicine for GCA. The patient, family or local practitioner were contacted prior to the study (July-October 1995). Treatment modalities and follow-up were obtained for 133 patients. All patients (except 11) had 3 or more 1990 ACR classification criteria for GCA. The 11 patients with 2 criteria had a positive temporal biopsy and were included in the study. Results: Relapse during corticosteroid tapering treatment was observed in 83 patients (62.4%) with a mean 1.57 relapses per patient. No correlation was found in age, sex, initial dose or type of steroid used (i.e. prednisone or prednisolone). Only a slight correlation in the initial erythrocyte sedimentation rate (ESR) was observed (p < 0.01, r = 0.23). In 56 patients free of treatment (mean treatment duration: 40 months), 27 (48%) developed a relapse of the disease 1 to 25 months later. No correlation was found in age, sex, initial dose of steroid, number of relapses during treatment, or initial ESR. Survival analysis was performed using the Kaplan-Meier and Mantel-Menszel methods for comparison of groups. At the time of the study, 41 patients had died (30.7%). A significant reduction of survival was found with the presence of permanent visual loss vs absence (p = 0.04), in patients who required more than 10 mg/d of glucocorticoid (p < 0.001) at 6 months treatment and in patients treated with prednisone (vs prednisolone) (p < 0.01). However, these factors were not independently associated with survival in the multivariate analysis. Conclusion: Relapse was observed in 62.4% of the patients during corticosteroid tapering (correlated with initial ESR). A relapse of the disease was also observed in 48% of patients 1 to 25 months after the end of the treatment and was associated with prednisolone use. Long term survival was better in patients with no initial ocular manifestations, in patients who took less than 10 mg/day of corticosteroids at 6 months of the treatment and in patients treated with prednisolone.
MeSH term(s)	Aged ; Aged, 80 and over ; Cohort Studies ; Disease Progression ; Female ; Giant Cell Arteritis/drug therapy ; Giant Cell Arteritis/mortality ; Glucocorticoids/therapeutic use ; Humans ; Male ; Middle Aged ; Prednisolone/therapeutic use ; Prognosis ; Recurrence ; Registries ; Survival Analysis
Chemical Substances	Glucocorticoids ; Prednisolone (9PHQ9Y1OLM)
Language	English
Publishing date	2001-03
Publishing country	Italy
Document type	Journal Article
ZDB-ID	605886-3
ISSN	1593-098X ; 0392-856X
ISSN (online)	1593-098X
ISSN	0392-856X
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2002: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Serum amyloid A concentrations in giant-cell arteritis and polymyalgia rheumatica: a useful test in the management of the disease.

Hachulla, E / Saile, R / Parra, H J / Hatron, P Y / Gosset, D / Fruchart, J C / Devulder, B

Clinical and experimental rheumatology

1991 Volume 9, Issue 2, Page(s) 157–163

Abstract: A prospective clinical study of 23 patients with giant-cell arteritis (GCA) and/or polymyalgia rheumatica (PMR) was undertaken in order to assess the behaviour of the non-specific markers of the disease activity, the erythrocyte sedimentation rate (ESR) ... ...

Abstract	A prospective clinical study of 23 patients with giant-cell arteritis (GCA) and/or polymyalgia rheumatica (PMR) was undertaken in order to assess the behaviour of the non-specific markers of the disease activity, the erythrocyte sedimentation rate (ESR) and other acute phase markers, particularly the C-reactive protein (CPR) and serum amyloid A apolipoprotein (apo SAA) levels during induction of disease remission by prednisone therapy, and possible further recurrence of GCA and/or PMR. The apo SAA measurement is more sensitive than the CRP measurement in determining disease activity (97% and 61%, respectively). The specificity of apo SAA is greater than ESR in the determination of inactive disease (86% and 77%, respectively). In some cases with clinically active disease the ESR and CRP were normal, whereas the apo SAA was always elevated. We conclude that the apo SAA measurement in combination with clinical data and other laboratory parameters may be useful in the management of GCA and/or PMR.
MeSH term(s)	Acute-Phase Proteins/analysis ; Aged ; Aged, 80 and over ; Apolipoproteins/analysis ; Blood Sedimentation ; Female ; Giant Cell Arteritis/blood ; Humans ; Male ; Middle Aged ; Osmolar Concentration ; Polymyalgia Rheumatica/blood ; Prospective Studies ; Serum Amyloid A Protein/analysis
Chemical Substances	Acute-Phase Proteins ; Apolipoproteins ; Serum Amyloid A Protein ; apolipoprotein SAA
Language	English
Publishing date	1991-03
Publishing country	Italy
Document type	Journal Article
ZDB-ID	605886-3
ISSN	1593-098X ; 0392-856X
ISSN (online)	1593-098X
ISSN	0392-856X
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2002: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Caputo, Sandrine M / Golmard, Lisa / Léone, Mélanie / Damiola, Francesca / Guillaud-Bataille, Marine / Revillion, Françoise / Rouleau, Etienne / Derive, Nicolas / Buisson, Adrien / Basset, Noémie / Schwartz, Mathias / Vilquin, Paul / Garrec, Celine / Privat, Maud / Gay-Bellile, Mathilde / Abadie, Caroline / Abidallah, Khadija / Airaud, Fabrice / Allary, Anne-Sophie /

Barouk-Simonet, Emmanuelle / Belotti, Muriel / Benigni, Charlotte / Benusiglio, Patrick R / Berthemin, Christelle / Berthet, Pascaline / Bertrand, Ophelie / Bézieau, Stéphane / Bidart, Marie / Bignon, Yves-Jean / Birot, Anne-Marie / Blanluet, Maud / Bloucard, Amelie / Bombled, Johny / Bonadona, Valerie / Bonnet, Françoise / Bonnet-Dupeyron, Marie-Noëlle / Boulaire, Manon / Boulouard, Flavie / Bouras, Ahmed / Bourdon, Violaine / Brahimi, Afane / Brayotel, Fanny / Bressac de Paillerets, Brigitte / Bronnec, Noémie / Bubien, Virginie / Buecher, Bruno / Cabaret, Odile / Carriere, Jennifer / Chiesa, Jean / Chieze-Valéro, Stephanie / Cohen, Camille / Cohen-Haguenauer, Odile / Colas, Chrystelle / Collonge-Rame, Marie-Agnès / Conoy, Anne-Laure / Coulet, Florence / Coupier, Isabelle / Crivelli, Louise / Cusin, Véronica / De Pauw, Antoine / Dehainault, Catherine / Delhomelle, Hélène / Delnatte, Capucine / Demontety, Sophie / Denizeau, Philippe / Devulder, Pierre / Dreyfus, Helene / d'Enghein, Catherine Dubois / Dupré, Anaïs / Durlach, Anne / Dussart, Sophie / Fajac, Anne / Fekairi, Samira / Fert-Ferrer, Sandra / Fiévet, Alice / Fouillet, Robin / Mouret-Fourme, Emmanuelle / Gauthier-Villars, Marion / Gesta, Paul / Giraud, Sophie / Gladieff, Laurence / Goldbarg, Veronica / Goussot, Vincent / Guibert, Virginie / Guillerm, Erell / Guy, Christophe / Hardouin, Agnès / Heude, Céline / Houdayer, Claude / Ingster, Olivier / Jacquot-Sawka, Caroline / Jones, Natalie / Krieger, Sophie / Lacoste, Sofiane / Lallaoui, Hakima / Larbre, Helene / Laugé, Anthony / Le Guyadec, Gabrielle / Le Mentec, Marine / Lecerf, Caroline / Le Gall, Jessica / Legendre, Bérengère / Legrand, Clémentine / Legros, Angélina / Lejeune, Sophie / Lidereau, Rosette / Lignon, Norbert / Limacher, Jean-Marc / Doriane Livon / Lizard, Sarab / Longy, Michel / Lortholary, Alain / Macquere, Pierre / Mailliez, Audrey / Malsa, Sarah / Margot, Henri / Mari, Véronique / Maugard, Christine / Meira, Cindy / Menjard, Julie / Molière, Diane / Moncoutier, Virginie / Moretta-Serra, Jessica / Muller, Etienne / Nevière, Zoe / Nguyen Minh Tuan, Thien-Vu / Noguchi, Tetsuro / Noguès, Catherine / Oca, Florine / Popovici, Cornel / Prieur, Fabienne / Raad, Sabine / Rey, Jean-Marc / Ricou, Agathe / Salle, Lucie / Saule, Claire / Sevenet, Nicolas / Simaga, Fatoumata / Sobol, Hagay / Suybeng, Voreak / Tennevet, Isabelle / Tenreiro, Henrique / Tinat, Julie / Toulas, Christine / Turbiez, Isabelle / Uhrhammer, Nancy / Vande Perre, Pierre / Vaur, Dominique / Venat, Laurence / Viellard, Nicolas / Villy, Marie-Charlotte / Warcoin, Mathilde / Yvard, Alice / Zattara, Helene / Caron, Olivier / Lasset, Christine / Remenieras, Audrey / Boutry-Kryza, Nadia / Castéra, Laurent / Stoppa-Lyonnet, Dominique

American journal of human genetics

2021 Volume 108, Issue 10, Page(s) 1907–1923

Abstract: Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We ... ...

Abstract	Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We report the first results of the ongoing French national COVAR (cosegregation variant) study, the aim of which is to classify BRCA1/2 VUSs. The classification method was a multifactorial model combining different associations between VUSs and cancer, including cosegregation data. At this time, among the 653 variants selected, 101 (15%) distinct variants shared by 1,624 families were classified as pathogenic/likely pathogenic or benign/likely benign by the COVAR study. Sixty-six of the 101 (65%) variants classified by COVAR would have remained VUSs without cosegregation data. Of note, among the 34 variants classified as pathogenic by COVAR, 16 remained VUSs or likely pathogenic when following the ACMG/AMP variant classification guidelines. Although the initiation and organization of cosegregation analyses require a considerable effort, the growing number of available genetic tests results in an increasing number of families sharing a particular variant, and thereby increases the power of such analyses. Here we demonstrate that variant cosegregation analyses are a powerful tool for the classification of variants in the BRCA1/2 breast-ovarian cancer predisposition genes.
MeSH term(s)	BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/classification ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Genotype ; Humans ; Ovarian Neoplasms/classification ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
Language	English
Publishing date	2021-09-30
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2021.09.003
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 107: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article: Problèmes posés a l'anesthésiste-réanimateur par la chirurgie du pontage aorto-coronaire.

Pol, A / Vannimenus, M E / Crepin, F / Devulder, J P / Warembourg, H / Krivosic-Horber, R / Soots, G

Annales de l'anesthesiologie francaise

1979 Volume 20, Issue 5, Page(s) 435–440

Abstract: The authors analysed a series of 400 aorto-coronary bypasses performed between 1970 and April 1978. A notable improvement in the statistics was seen during the second period between 1976 and April 1978. During this period, 248 patients were operated upon ...

Title translation	Problems encountered by the anesthetist-intensive care specialist during aorto-coronary bypass surgery.
Abstract	The authors analysed a series of 400 aorto-coronary bypasses performed between 1970 and April 1978. A notable improvement in the statistics was seen during the second period between 1976 and April 1978. During this period, 248 patients were operated upon with a mortality of 4 per cent. The progress made was in large part attributed to improved preoperative assessment, in particular a complete ventricular assessment, improved peroperative myocardial protection and the use of the intra-aortic counter-pressure balloon and of sodium nitroprussiate.
MeSH term(s)	Anesthesia/adverse effects ; Coronary Artery Bypass ; Critical Care ; Female ; Humans ; Male
Language	French
Publishing date	1979
Publishing country	France
Document type	English Abstract ; Journal Article
ZDB-ID	203506-6
ISSN	0003-4061
ISSN	0003-4061
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 782: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito