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Article ; Online: Mutations on a conserved distal enhancer in the porcine C-reactive protein gene impair its expression in liver.

Hernández-Banqué, Carles / Jové-Juncà, Teodor / Crespo-Piazuelo, Daniel / González-Rodríguez, Olga / Ramayo-Caldas, Yuliaxis / Esteve-Codina, Anna / Mercat, Marie-José / Bink, Marco C A M / Quintanilla, Raquel / Ballester, Maria

Frontiers in immunology

2023 Volume 14, Page(s) 1250942

Abstract: C-reactive protein (CRP) is an evolutionary highly conserved protein. Like humans, CRP acts ...

Abstract	C-reactive protein (CRP) is an evolutionary highly conserved protein. Like humans, CRP acts as a major acute phase protein in pigs. While
MeSH term(s)	Female ; Cattle ; Humans ; Animals ; Swine ; Transcription, Genetic ; C-Reactive Protein/genetics ; C-Reactive Protein/metabolism ; Genome-Wide Association Study ; Liver/metabolism ; CCAAT-Enhancer-Binding Protein-beta/metabolism ; Mutation
Chemical Substances	C-Reactive Protein (9007-41-4) ; CCAAT-Enhancer-Binding Protein-beta
Language	English
Publishing date	2023-09-14
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2023.1250942
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Article ; Online: An online hepatitis C virus self-sampling strategy for gay, bisexual, and other men who have sex with men and trans women: TESTATE C PLUS 2020-2021.

Journal of evidence-based medicine

2023 Volume 16, Issue 4, Page(s) 446–450

MeSH term(s)	Male ; Humans ; Female ; Sexual and Gender Minorities ; Homosexuality, Male ; Hepacivirus ; Sexual Behavior ; Bisexuality ; Hepatitis C/diagnosis ; HIV Infections
Language	English
Publishing date	2023-12-25
Publishing country	England
Document type	Letter
ZDB-ID	2474496-7
ISSN	1756-5391 ; 1756-5383
ISSN (online)	1756-5391
ISSN	1756-5383
DOI	10.1111/jebm.12566
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Article ; Online: Safety and effectiveness of direct-acting antiviral drugs in the treatment of hepatitis C in patients with inflammatory bowel disease.

Martin-Cardona, A / Horta, D / Florez-Diez, P / Vela, M / Mesonero, F / Ramos Belinchón, C / García, M J / Masnou, H / de la Peña-Negro, L / Suarez Ferrer, C / Casanova, M J / Durán, M Ortiz / Peña, E / Calvet, X / Fernández-Prada, S J / González-Muñoza, C / Piqueras, M / Rodríguez-Lago, I / Sainz, E /

Bas-Cutrina, F / Mancediño Marcos, N / Ojeda, A / Orts, B / Sicilia, B / García, A Castaño / Domènech, E / Esteve, M

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver

2023 Volume 56, Issue 3, Page(s) 468–476

Abstract: Background and aims: Hepatitis C virus (HCV) management in Inflammatory Bowel Disease (IBD) is ...

Abstract	Background and aims: Hepatitis C virus (HCV) management in Inflammatory Bowel Disease (IBD) is uncertain. The ECCO guidelines 2021 recommended HCV treatment but warn about the risk of IBD reactivation. We aimed to evaluate 1) the effectiveness and safety of direct-acting antivirals (DAAs) in IBD; 2) the interaction of DAAs with IBD drugs. Methods: Multicentre study of IBD patients and HCV treated with DAAs. Variables related to liver diseases and IBD, as well as adverse events (AEs) and drug interactions, were recorded. McNemar's test was used to assess differences in the proportion of active IBD during the study period. Results: We included 79 patients with IBD and HCV treated with DAAs from 25,998 IBD patients of the ENEIDA registry. Thirty-one (39.2 %) received immunomodulators/biologics. There were no significant differences in the percentage of active IBD at the beginning (n = 11, 13.9 %) or at the 12-week follow-up after DAAs (n = 15, 19 %) (p = 0.424). Sustained viral response occurred in 96.2 % (n = 76). A total of 8 (10.1 %) AEs occurred and these were unrelated to activity, type of IBD, liver fibrosis, immunosuppressants/biologics, and DAAs. Conclusions: We demonstrate a high efficacy and safety of DAAs in patients with IBD and HCV irrespective of activity and treatment of IBD.
MeSH term(s)	Humans ; Antiviral Agents/adverse effects ; Hepacivirus/genetics ; Hepatitis C, Chronic/complications ; Hepatitis C, Chronic/drug therapy ; Hepatitis C/drug therapy ; Inflammatory Bowel Diseases/complications ; Inflammatory Bowel Diseases/drug therapy ; Biological Products/therapeutic use
Chemical Substances	Antiviral Agents ; Biological Products
Language	English
Publishing date	2023-09-26
Publishing country	Netherlands
Document type	Multicenter Study ; Journal Article
ZDB-ID	1459373-7
ISSN	1878-3562 ; 1125-8055
ISSN (online)	1878-3562
ISSN	1125-8055
DOI	10.1016/j.dld.2023.09.004
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Article ; Online: A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

Urreizti, Roser / Damanti, Sarah / Esteve, Carla / Franco-Valls, Héctor / Castilla-Vallmanya, Laura / Tonda, Raul / Cormand, Bru / Vilageliu, Lluïsa / Opitz, John M / Neri, Giovanni / Grinberg, Daniel / Balcells, Susana

Scientific reports

2018 Volume 8, Issue 1, Page(s) 694

Abstract: ... autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome ... associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing ... we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers ...

Abstract	De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly. The mutation (c.1428 + 1 G > A) promotes the skipping of exon 16, a frameshift and a premature STOP codon (p.Ala450GLyfs*13), as assessed by a minigene strategy. The patient reported here shares speech difficulties, intellectual disability and autistic features with other FOXP1 syndrome patients, and thus the diagnosis for this patient should be changed. Finally, since trigonocephaly has not been previously reported in FOXP1 syndrome, it remains to be proved whether it may be associated with the FOXP1 mutation.
MeSH term(s)	Autistic Disorder/complications ; Autistic Disorder/diagnosis ; Craniosynostoses/diagnosis ; Craniosynostoses/genetics ; Exons ; Forkhead Transcription Factors/genetics ; Frameshift Mutation ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; RNA Splicing ; Repressor Proteins/genetics ; Speech Disorders/complications ; Speech Disorders/diagnosis ; Whole Exome Sequencing ; Young Adult
Chemical Substances	FOXP1 protein, human ; Forkhead Transcription Factors ; Repressor Proteins
Language	English
Publishing date	2018-01-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-017-19109-9
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Article: Kératodermie aquagénique palmaire chez une patiente hétérozygote pour la mutation c.3197G>C du gène CFTR.

Nadal, M / Laudier, B / Malinge, M C / Binois, R / Estève, E

Annales de dermatologie et de venereologie

2015 Volume 142, Issue 3, Page(s) 201–205

Abstract: ... c.3197G>C or p.Arg1066.Pro and a heterozygous polypyrimidic 5T variant inherited from her father ...

Title translation	Aquagenic palmar keratoderma in a patient heterozygous for the mutation c.3197G>C in the CFTR gene.
Abstract	Background: Aquagenic palmar keratoderma is an entity recently described in the literature by English and McCollough in 1996. It is a rare condition affecting young women and is of unknown incidence. It causes a wrinkled and oedematous appearance in the skin of the hands that may be seen a few minutes after immersion in water. This condition may be associated with a heterozygous mutation in CFTR, the gene involved in cystic fibrosis. We report the first case of aquagenic keratoderma associated with a new mutation in the CFTR gene. Patients and methods: An 18-year-old patient with no particular history was referred for a painful rash on both palms occurring whenever she showered, and which had been ongoing for several months. The clinical examination was normal except for an appearance of moderate palmar hyperhidrosis. Following a test in which both hands were immersed in cold water for 5minutes, the patient presented itching, burning and pain localized to the hands. The palms were wrinkled and oedematous with white, translucent and confluent papules. A clinical diagnosis of aquagenic palmar keratoderma was made. Since this condition may be associated with mutations in the CFTR gene, a genetic study was performed for this patient and revealed the presence of a new mutation in the CFTR gene for cystic fibrosis in the heterozygous state inherited from her mother: c.3197G>C or p.Arg1066.Pro and a heterozygous polypyrimidic 5T variant inherited from her father. Discussion: We report a new case of aquagenic palmar keratoderma in a patient heterozygous for a new mutation of the gene involved in cystic fibrosis. Several studies have shown association of aquagenic keratoderma with the CFTR gene for heterozygotes (carriers without cystic fibrosis), for patients with cystic fibrosis and for a patient presenting CFTRopathy with pancreatic insufficiency.
MeSH term(s)	Adolescent ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Female ; Heterozygote ; Humans ; Keratoderma, Palmoplantar/etiology ; Keratoderma, Palmoplantar/genetics ; Mutation ; Water/adverse effects
Chemical Substances	Water (059QF0KO0R) ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
Language	French
Publishing date	2015-03
Publishing country	France
Document type	Case Reports ; English Abstract ; Journal Article
ZDB-ID	391805-1
ISSN	2214-5451 ; 0151-9638
ISSN (online)	2214-5451
ISSN	0151-9638
DOI	10.1016/j.annder.2015.01.012
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Article ; Online: A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.

Fabre, Alexandre / Petit, Laetitia-Marie / Hansen, Lars F / Wewer, Anne V / Esteve, Clothilde / Chaix, Charlène / Bourgeois, Patrice / Badens, Catherine / Paerregaard, Anders

American journal of medical genetics. Part A

2018 Volume 176, Issue 3, Page(s) 727–732

Abstract: ... of Turkish origin with the same new mutation in TTC37: c.4572 G>A p.(Trp1524X). All seven patients were ...

Abstract	Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities. SD/THE is caused by mutations in TTC37 or SKIV2L, two genes encoding components of the human SKI complex. To date, approximately 50 SD/THE patients have been described with a wide spectrum of mutations, and only one recurrent mutation has been identified in independent families. We present a detailed description of seven patients of Turkish origin with the same new mutation in TTC37: c.4572 G>A p.(Trp1524X). All seven patients were homozygous for this mutation and presented the typical clinical features of SD/THE, but with a milder presentation than usual. All seven patients were alive at the last follow-up. Four out of seven patients had no IUGR, and four patients never required parenteral nutrition. All patients presented a better growth rate than previously described in patients with SD/THE, with 4/7 above the 3rd percentile. The mutation is localized only forty amino acids from the end of TTC37, and as TTC37 is longer than the yeast SKI3, it is possible that a truncated protein is expressed and plays a reduced role in the SKI complex.
MeSH term(s)	Alleles ; Carrier Proteins/genetics ; Child, Preschool ; Diarrhea/congenital ; Diarrhea/diagnosis ; Family ; Female ; Genotype ; Humans ; Infant ; Male ; Mutation ; Pedigree ; Phenotype ; Siblings ; Syndrome
Chemical Substances	Carrier Proteins ; TTC37 protein, human
Language	English
Publishing date	2018-01-31
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.38618
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Article: Synthesis and characterisation of a new graphitic C–S compound obtained by high pressure decomposition of CS2

Klotz, S. / Baptiste, B. / Hattori, T. / Feng, S.M. / Jin, Ch / Béneut, K. / Guigner, J.M. / Estève, I.

Carbon. 2021 Nov. 15, v. 185

2021

Abstract: ... at temperatures above 200 °C allows to reduce its sulphur content up to C₁₀S. Its structural and electronic ...

Abstract	Carbon disulphide (CS₂) is, together with its closest analogue CO₂, one of the simplest molecular systems made of double covalent bonds. Under high pressure, the molecular structure is expected to break up to form extended crystalline or polymeric solids. Here we show that by compression at 300 K to ∼10 GPa (100 kbar) using large-volume high pressure techniques, a sudden reaction leads to a mixture of pure sulphur and a well-defined compound with stoichiometry close to C₂S which can be recovered to ambient pressure. We present neutron and x-ray diffraction as well as Raman data which show that this material consists of sulphur bonded to sp² graphite layers of nanometric dimensions. The compound is a semiconductor with a gap of 45 meV, as revealed by temperature dependent resistivity measurements, and annealing at temperatures above 200 °C allows to reduce its sulphur content up to C₁₀S. Its structural and electronic properties are fundamentally different to “Bridgman black” reported from previous high pressure experiments on CS₂.
Keywords	Raman spectroscopy ; X-ray diffraction ; ambient pressure ; carbon dioxide ; carbon disulfide ; chemical structure ; graphene ; neutrons ; polymers ; semiconductors ; stoichiometry ; sulfur ; temperature
Language	English
Dates of publication	2021-1115
Size	p. 491-500.
Publishing place	Elsevier Ltd
Document type	Article
ISSN	0008-6223
DOI	10.1016/j.carbon.2021.09.048
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Article ; Online: A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

Roser Urreizti / Sarah Damanti / Carla Esteve / Héctor Franco-Valls / Laura Castilla-Vallmanya / Raul Tonda / Bru Cormand / Lluïsa Vilageliu / John M. Opitz / Giovanni Neri / Daniel Grinberg / Susana Balcells

Scientific Reports, Vol 8, Iss 1, Pp 1-

2018 Volume 6

Abstract: ... delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly ... associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing ... we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers ...

Abstract	Abstract De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly. The mutation (c.1428 + 1 G > A) promotes the skipping of exon 16, a frameshift and a premature STOP codon (p.Ala450GLyfs*13), as assessed by a minigene strategy. The patient reported here shares speech difficulties, intellectual disability and autistic features with other FOXP1 syndrome patients, and thus the diagnosis for this patient should be changed. Finally, since trigonocephaly has not been previously reported in FOXP1 syndrome, it remains to be proved whether it may be associated with the FOXP1 mutation.
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2018-01-01T00:00:00Z
Publisher	Nature Publishing Group
Document type	Article ; Online
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Article ; Online: Safe Reduction in CD4 Cell Count Monitoring in Stable, Virally Suppressed Patients With HIV Infection or HIV/Hepatitis C Virus Coinfection.

Nicolás, David / Esteve, Anna / Cuadros, Anna / Campbell, Colin N J / Tural, Cristina / Podzamczer, Daniel / Murillas, Javier / Homar, Francesc / Segura, Ferrán / Force, Lluis / Vilaró, Josep / Masabeu, Àngels / Garcia, Isabel / Mercadal, Jordi / Montoliu, Alexandra / Ferrer, Elena / Riera, Melcior / Cifuentes, Carmen / Ambrosioni, Juan /

Navarro, Gemma / Manzardo, Christian / Clotet, Bonaventura / Gatell, Josep M / Casabona, Jordi / Miró, José M / Murillas, J / Manzardo, C / Masabeu, A / Mercadal, J / Cifuentes, C / Dalmau, D / Domingo, P / Falcó, V / Curran, A / Agustí, C / Montoliu, A / Pérez, I / Curto, Jordi / Gargoulas, F / Gómez, A / Rubia, J C / Zamora, L / Blanco, J L / Garcia-Alcaide, F / Martínez, E / Mallolas, J / Llibre, J M / Sirera, G / Romeu, J / Jou, A / Negredo, E / Saumoy, M / Imaz, A / Bolao, F / Cabellos, C / Peña, C / DiYacovo, S / Van Den Eynde, E / Sala, M / Cervantes, M / Amengual, M J / Navarro, M / Segura, V / Barrufet, P / Molina, J / Alvaro, M / Payeras, T / Gracia Mateo, M / Fernández, Juanse

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America

2016 Volume 62, Issue 12, Page(s) 1578–1585

Abstract: ... reduced to annual. HIV/hepatitis C virus (HCV) coinfection is frequent, but evidence supporting similar ...

Abstract	Background: It has been suggested that routine CD4 cell count monitoring in human immunodeficiency virus (HIV)-monoinfected patients with suppressed viral loads and CD4 cell counts >300 cell/μL could be reduced to annual. HIV/hepatitis C virus (HCV) coinfection is frequent, but evidence supporting similar reductions in CD4 cell count monitoring is lacking for this population. We determined whether CD4 cell count monitoring could be reduced in monoinfected and coinfected patients by estimating the probability of maintaining CD4 cell counts ≥200 cells/µL during continuous HIV suppression. Methods: The PISCIS Cohort study included data from 14 539 patients aged ≥16 years from 10 hospitals in Catalonia and 2 in the Balearic Islands (Spain) since January 1998. All patients who had at least one period of 6 months of continuous HIV suppression were included in this analysis. Cumulative probabilities with 95% confidence intervals were calculated using the Kaplan-Meier estimator stratified by the initial CD4 cell count at the period of continuous suppression initiation. Results: A total of 8695 patients were included. CD4 cell counts fell to <200 cells/µL in 7.4% patients, and the proportion was lower in patients with an initial count >350 cells/µL (1.8%) and higher in those with an initial count of 200-249 cells/µL (23.1%). CD4 cell counts fell to <200 cells/µL in 5.7% of monoinfected and 11.1% of coinfected patients. Of monoinfected patients with an initial CD4 cell count of 300-349 cells/µL, 95.6% maintained counts ≥200 cells/µL. In the coinfected group with the same initial count, this rate was lower, but 97.6% of coinfected patients with initial counts >350 cells/µL maintained counts ≥200 cells/µL. Conclusions: From our data, it can be inferred that CD4 cell count monitoring can be safely performed annually in HIV-monoinfected patients with CD4 cell counts >300 cells/µL and HIV/HCV-coinfected patients with counts >350 cells/µL.
MeSH term(s)	Adolescent ; Adult ; CD4-Positive T-Lymphocytes/immunology ; Cohort Studies ; Coinfection/epidemiology ; Coinfection/immunology ; Coinfection/virology ; Female ; HIV Infections/complications ; HIV Infections/epidemiology ; HIV Infections/immunology ; HIV Infections/virology ; HIV-1 ; Hepacivirus ; Hepatitis C/complications ; Hepatitis C/epidemiology ; Hepatitis C/immunology ; Hepatitis C/virology ; Humans ; Male ; Middle Aged ; Viral Load ; Young Adult
Language	English
Publishing date	2016--15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1099781-7
ISSN	1537-6591 ; 1058-4838
ISSN (online)	1537-6591
ISSN	1058-4838
DOI	10.1093/cid/ciw157
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Article ; Online: Efficient Synthesis of Molecular Precursors for Para-Hydrogen-Induced Polarization of Ethyl Acetate-1-(13) C and Beyond.

Shchepin, Roman V / Barskiy, Danila A / Coffey, Aaron M / Manzanera Esteve, Isaac V / Chekmenev, Eduard Y

Angewandte Chemie (International ed. in English)

2016 Volume 55, Issue 20, Page(s) 6071–6074

Abstract: A scalable and versatile methodology for production of vinylated carboxylic compounds with (13) C ... isotopic label in C1 position is described. It allowed synthesis of vinyl acetate-1-(13) C, which is a precursor ... for preparation of (13) C hyperpolarized ethyl acetate-1-(13) C, which provides a convenient vehicle for potential ...

Abstract	A scalable and versatile methodology for production of vinylated carboxylic compounds with (13) C isotopic label in C1 position is described. It allowed synthesis of vinyl acetate-1-(13) C, which is a precursor for preparation of (13) C hyperpolarized ethyl acetate-1-(13) C, which provides a convenient vehicle for potential in vivo delivery of hyperpolarized acetate to probe metabolism in living organisms. Kinetics of vinyl acetate molecular hydrogenation and polarization transfer from para-hydrogen to (13) C via magnetic field cycling were investigated. Nascent proton nuclear spin polarization (%PH ) of ca. 3.3 % and carbon-13 polarization (%P13C ) of ca. 1.8 % were achieved in ethyl acetate utilizing 50 % para-hydrogen corresponding to ca. 50 % polarization transfer efficiency. The use of nearly 100% para-hydrogen and the improvements of %PH of para-hydrogen-nascent protons may enable production of (13) C hyperpolarized contrast agents with %P13C of 20-50 % in seconds using this chemistry.
MeSH term(s)	Acetates/chemical synthesis ; Acetates/chemistry ; Carbon Isotopes/chemistry ; Catalysis ; Coordination Complexes/chemistry ; Hydrogen/chemistry ; Isotope Labeling ; Magnetic Resonance Spectroscopy ; Rhodium/chemistry
Chemical Substances	Acetates ; Carbon Isotopes ; Coordination Complexes ; ethyl acetate (76845O8NMZ) ; Hydrogen (7YNJ3PO35Z) ; Rhodium (DMK383DSAC) ; Carbon-13 (FDJ0A8596D)
Language	English
Publishing date	2016-04-08
Publishing country	Germany
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2011836-3
ISSN	1521-3773 ; 1433-7851
ISSN (online)	1521-3773
ISSN	1433-7851
DOI	10.1002/anie.201600521
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