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1,278 results on '"O'callaghan M"'

61. Unweathered wood biochar impact on nitrous oxide emissions from a bovine-urine-amended pasture soil

Author

Clough, T.J., Bertram, J.E., Ray, J.L., Condron, L.M., O'Callaghan, M., Sherlock, R.R., and Wells, N.S.

Subjects
Nitrous oxide -- Environmental aspects, Nitrous oxide -- Research, Greenhouse gases -- Research, Soil amendments -- Research, Earth sciences
Abstract

Low-temperature pyrolysis of biomass produces a product 'known as biochar. The incorporation of this material into the soil has been advocated as a C sequestration method. Biochar also has the potential to influence the soil N cycle by altering nitrification rates and by adsorbing N[H.sub.4.sup.+] or N[H.sub.3]. Biochar can be incorporated into the soil during renovation of intensively managed pasture soils. These managed pastures are a significant source of [N.sub.2]O, a greenhouse gas, produced in ruminant urine patches. We hypothesized that biochar effects on the N cycle could reduce the soil inorganic-N pool available for [N.sub.2]O-producing mechanisms. A laboratory study was performed to examine the effect of biochar incorporation into soil (20 Mg [ha.sup.-1]) on [N.sub.2]O-N and N[H.sub.3]-N fluxes, and inorganic-N transformations, following the application of bovine urine (760 kg N [ha.sup.-1]). Treatments included controls (soil only and soil plus biochar), and two urine treatments (soil plus urine and soil plus biochar plus urine). Fluxes of [N.sub.2]O from the biochar plus urine treatment were generally higher than from urine alone during the first 30 d, but aider 50 d there was no significant difference (P = 0.11) in terms of cumulative [N.sub.2]O-N emitted as a percentage of the urine N applied during the 53-d period; however, N[H.sub.3]-N fluxes were enhanced by approximately 3% of the N applied in the biochar plus urine treatment compared with the urine-only treatment after 17 d. Soil inorganic-N pools differed between treatments, with higher [NH.sub.4.sup.+] concentrations in the presence of biochar, indicative of lower rates of nitrification. The inorganic-N pool available for [N.sub.2]O-producing mechanisms was not reduced, however, by adding biochar. Abbreviations: MBC, microbial biomass carbon; VOC, volatile organic compound; WSC, watersoluble carbon. doi: 10.2136/sssaj2009.0185

Published
2010

66. Characteristics of adult patients with chronic intestinal failure due to short bowel syndrome: An international multicenter survey

Author

Pironi, L, Steiger, E., Joly, F., Jeppesen, P.B., Wanten, G.J.A., Sasdelli, A.S., Chambrier, C., Aimasso, U., Mundi, M.S., Szczepanek, K., Jukes, A., Theilla, M., Kunecki, M., Daniels, J., Serlie, M., Poullenot, F., Cooper, S.C., Rasmussen, H.H., Compher, C., Seguy, D., Crivelli, A., Santarpia, L., Guglielmi, F.W., Kozjek, N.R., Schneider, S.M., Ellegard, L., Thibault, R., Matras, P., Matysiak, K., Gossum, A. van, Forbes, A., Wyer, N., Taus, M., Virgili, N.M., O'Callaghan, M., Chapman, B., Osland, E., Cuerda, C., Udvarhelyi, G., Jones, L., Lee, A.D. Won, Masconale, L., Orlandoni, P., Spaggiari, C., Díez, M.B., Doitchinova-Simeonova, M., Serralde-Zúñiga, A.E., Olveira, G., Krznaric, Z., Czako, L., Kekstas, G., Sanz-Paris, A., Jáuregui, M.E.P., Murillo, A.Z., Schafer, E., Arends, J., Suárez-Llanos, J.P., Youssef, N.N., Brillanti, G., Nardi, E., Lal, S., Pironi, L, Steiger, E., Joly, F., Jeppesen, P.B., Wanten, G.J.A., Sasdelli, A.S., Chambrier, C., Aimasso, U., Mundi, M.S., Szczepanek, K., Jukes, A., Theilla, M., Kunecki, M., Daniels, J., Serlie, M., Poullenot, F., Cooper, S.C., Rasmussen, H.H., Compher, C., Seguy, D., Crivelli, A., Santarpia, L., Guglielmi, F.W., Kozjek, N.R., Schneider, S.M., Ellegard, L., Thibault, R., Matras, P., Matysiak, K., Gossum, A. van, Forbes, A., Wyer, N., Taus, M., Virgili, N.M., O'Callaghan, M., Chapman, B., Osland, E., Cuerda, C., Udvarhelyi, G., Jones, L., Lee, A.D. Won, Masconale, L., Orlandoni, P., Spaggiari, C., Díez, M.B., Doitchinova-Simeonova, M., Serralde-Zúñiga, A.E., Olveira, G., Krznaric, Z., Czako, L., Kekstas, G., Sanz-Paris, A., Jáuregui, M.E.P., Murillo, A.Z., Schafer, E., Arends, J., Suárez-Llanos, J.P., Youssef, N.N., Brillanti, G., Nardi, E., and Lal, S.

Abstract

Item does not contain fulltext, BACKGROUND AND AIMS: The case-mix of patients with intestinal failure due to short bowel syndrome (SBS-IF) can differ among centres and may also be affected by the timeframe of data collection. Therefore, the ESPEN international multicenter cross-sectional survey was analyzed to compare the characteristics of SBS-IF cohorts collected within the same timeframe in different countries. METHODS: The study included 1880 adult SBS-IF patients collected in 2015 by 65 centres from 22 countries. The demographic, nutritional, SBS type (end jejunostomy, SBS-J; jejuno-colic anastomosis, SBS-JC; jejunoileal anastomosis with an intact colon and ileocecal valve, SBS-JIC), underlying disease and intravenous supplementation (IVS) characteristics were analyzed. IVS was classified as fluid and electrolyte alone (FE) or parenteral nutrition admixture (PN). The mean daily IVS volume, calculated on a weekly basis, was categorized as <1, 1-2, 2-3 and >3 L/day. RESULTS: In the entire group: 60.7% were females and SBS-J comprised 60% of cases, while mesenteric ischaemia (MI) and Crohn' disease (CD) were the main underlying diseases. IVS dependency was longer than 3 years in around 50% of cases; IVS was infused ≥5 days/week in 75% and FE in 10% of cases. Within the SBS-IF cohort: CD was twice and thrice more frequent in SBS-J than SBS-JC and SBS-JIC, respectively, while MI was more frequent in SBS-JC and SBS-JIC. Within countries: SBS-J represented 75% or more of patients in UK and Denmark and 50-60% in the other countries, except Poland where SBS-JC prevailed. CD was the main underlying disease in UK, USA, Denmark and The Netherlands, while MI prevailed in France, Italy and Poland. CONCLUSIONS: SBS-IF type is primarily determined by the underlying disease, with significant variation between countries. These novel data will be useful for planning and managing both clinical activity and research studies on SBS.

Published
2021

67. Comment on 'A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome'

Author

Bindoff, Laurence, Brown, David A., Gorman, G.S., Karaa, A., Keshavan, N., Lamperti, C., Mancuso, M., McFarland, R., Ng, Y.S., O'Callaghan, M., Pitceathly, R.D.S., Rahman, S., Russel, F.G.M., Schirris, T.J.J., Varhaug, K.N., Vries, M.C. de, Bindoff, Laurence, Brown, David A., Gorman, G.S., Karaa, A., Keshavan, N., Lamperti, C., Mancuso, M., McFarland, R., Ng, Y.S., O'Callaghan, M., Pitceathly, R.D.S., Rahman, S., Russel, F.G.M., Schirris, T.J.J., Varhaug, K.N., and Vries, M.C. de

Abstract

Item does not contain fulltext

Published
2021

75. Child-witness and defendant credibility: child evidence presentation mode and judicial instructions

Author

Eaton, Tania E., Ball, Peter J., and O'Callaghan, M. Gemma

Subjects
Children -- Psychological aspects, Witnesses -- Psychological aspects, Evidence, Criminal -- Analysis, Psychology and mental health, Sociology and social work
Abstract

Child-witness presentation mode, judicial instructions, and deliberation stage effects on juror ratings of child witness and defendant were investigated. Perceptions of the impact of presentation mode on witnesses, juror task, and justice also were explored. Participants (N = 108) viewed a simulated child sexual abuse trial videotape. Overall child-witness credibility was significantly more positive with videodeposition or court-given child evidence than with videolink. The defendant was seen as more definitely guilty when child testimony was court given than by videodeposition or videolink. Presentation mode also significantly influenced perceived impact on child witness, defendant case, and juror task. Judicial instructions interacted with presentation mode to affect perceptions of impact on child witness and juror task. Findings are discussed in relation to previous research, and implications for future research and practice are outlined.

Published
2001

85. Molecular characterisation of Spanish patients with MECP2 duplication syndrome

Author

Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, and Armstrong J

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, IRAK1, MECP2 duplication, Methyl-CpG-binding protein 2 (MECP2), Xq28-duplication, genotype-phenotype correlation, hypotonia, intellectual disability, recurrent infections
Abstract

MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterised by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterisation of a Spanish MDS cohort that included 19 boys and 2 girls. Clinical suspicions were confirmed by array comparative genomic hybridisation (aCGH) and multiplex ligation-dependent probe amplification (MLPA). Using, a custom in-house MLPA assay, we performed a thorough study of the minimal duplicated region, from which we concluded a complete duplication of both MECP2 and IRAK1 was necessary for a correct MDS diagnosis, as patients with partial MECP2 duplications lacked some typical clinical traits present in other MDS patients. In addition, the duplication location may be related to phenotypic severity. This observation may provide a new approach for genotype-phenotype correlations, and thus more personalised genetic counselling. This article is protected by copyright. All rights reserved.

Published
2020

89. Home parenteral nutrition provision modalities for chronic intestinal failure in adult patients: An international survey

Author

Pironi, L, Steiger, E., Brandt, C, Joly, F., Wanten, G.J.A., Chambrier, C., Aimasso, U., Sasdelli, A.S., Zeraschi, S., Kelly, D., Szczepanek, K., Jukes, A., Caro, S. Di, Theilla, M., Kunecki, M., Daniels, J., Serlie, M., Poullenot, F., Wu, J., Cooper, S.C., Rasmussen, H.H., Compher, C., Seguy, D., Crivelli, A., Pagano, M.C., Hughes, S.J., Guglielmi, F.W., Kozjek, N.R., Schneider, S.M., Gillanders, L., Ellegard, L., Thibault, R., Matras, P., Zmarzly, A., Matysiak, K., Gossum, A. van, Forbes, A., Wyer, N., Taus, M., Virgili, N.M., O'Callaghan, M., Chapman, B., Osland, E., Cuerda, C., Sahin, P., Jones, L., Lee, A.D. Won, Masconale, L., Orlandoni, P., Izbéki, F., Spaggiari, C., Bueno, M., Doitchinova-Simeonova, M., Garde, C., Serralde-Zúñiga, A.E., Olveira, G., Krznaric, Z., Czako, L., Kekstas, G., Sanz-Paris, A., Jáuregui, E.P., Murillo, A.Z., Schafer, E., Arends, J., Suárez-Llanos, J.P., Lal, S., Pironi, L, Steiger, E., Brandt, C, Joly, F., Wanten, G.J.A., Chambrier, C., Aimasso, U., Sasdelli, A.S., Zeraschi, S., Kelly, D., Szczepanek, K., Jukes, A., Caro, S. Di, Theilla, M., Kunecki, M., Daniels, J., Serlie, M., Poullenot, F., Wu, J., Cooper, S.C., Rasmussen, H.H., Compher, C., Seguy, D., Crivelli, A., Pagano, M.C., Hughes, S.J., Guglielmi, F.W., Kozjek, N.R., Schneider, S.M., Gillanders, L., Ellegard, L., Thibault, R., Matras, P., Zmarzly, A., Matysiak, K., Gossum, A. van, Forbes, A., Wyer, N., Taus, M., Virgili, N.M., O'Callaghan, M., Chapman, B., Osland, E., Cuerda, C., Sahin, P., Jones, L., Lee, A.D. Won, Masconale, L., Orlandoni, P., Izbéki, F., Spaggiari, C., Bueno, M., Doitchinova-Simeonova, M., Garde, C., Serralde-Zúñiga, A.E., Olveira, G., Krznaric, Z., Czako, L., Kekstas, G., Sanz-Paris, A., Jáuregui, E.P., Murillo, A.Z., Schafer, E., Arends, J., Suárez-Llanos, J.P., and Lal, S.

Abstract

Contains fulltext : 220087.pdf (Publisher’s version ) (Closed access), BACKGROUND & AIMS: The safety and effectiveness of a home parenteral nutrition (HPN) program depends both on the expertise and the management approach of the HPN center. We aimed to evaluate both the approaches of different international HPN-centers in their provision of HPN and the types of intravenous supplementation (IVS)-admixtures prescribed to patients with chronic intestinal failure (CIF). METHODS: In March 2015, 65 centers from 22 countries enrolled 3239 patients (benign disease 90.1%, malignant disease 9.9%), recording the patient, CIF and HPN characteristics in a structured database. The HPN-provider was categorized as health care system local pharmacy (LP) or independent home care company (HCC). The IVS-admixture was categorized as fluids and electrolytes alone (FE) or parenteral nutrition, either commercially premixed (PA) or customized to the individual patient (CA), alone or plus extra FE (PAFE or CAFE). Doctors of HPN centers were responsible for the IVS prescriptions. RESULTS: HCC (66%) was the most common HPN provider, with no difference noted between benign-CIF and malignant-CIF. LP was the main modality in 11 countries; HCC prevailed in 4 European countries: Israel, USA, South America and Oceania (p < 0.001). IVS-admixture comprised: FE 10%, PA 17%, PAFE 17%, CA 38%, CAFE 18%. PA and PAFE prevailed in malignant-CIF while CA and CAFE use was greater in benign-CIF (p < 0.001). PA + PAFE prevailed in those countries where LP was the main HPN-provider and CA + CAFE prevailed where the main HPN-provider was HCC (p < 0.001). CONCLUSIONS: This is the first study to demonstrate that HPN provision and the IVS-admixture differ greatly among countries, among HPN centers and between benign-CIF and cancer-CIF. As both HPN provider and IVS-admixture types may play a role in the safety and effectiveness of HPN therapy, criteria to homogenize HPN programs are needed so that patients can have equal access to optimal CIF care.

Published
2020

90. Intravenous supplementation type and volume are associated with 1-year outcome and major complications in patients with chronic intestinal failure

Author

Pironi, L, Steiger, E., Joly, F., Wanten, G.J.A., Chambrier, C., Aimasso, U., Sasdelli, A.S., Szczepanek, K., Jukes, A., Theilla, M., Kunecki, M., Daniels, J., Serlie, M.J., Cooper, S.C., Poullenot, F., Rasmussen, H.H., Compher, C.W., Crivelli, A., Hughes, S.J., Santarpia, L., Guglielmi, F.W., Kozjek, N. Rotovnik, Ellegard, L., Schneider, S.M., Matras, P., Forbes, A., Wyer, N., Zmarzly, A., Taus, M., O'Callaghan, M., Osland, E., Thibault, R., Cuerda, C., Jones, L., Chapman, B., Sahin, P., Virgili, N.M., Lee, A.D. Won, Orlandoni, P., Matysiak, K., Caro, S. Di, Doitchinova-Simeonova, M., Masconale, L., Spaggiari, C., Garde, C., Serralde-Zúñiga, A.E., Olveira, G., Krznaric, Z., Jáuregui, E. Petrina, Murillo, A., Suárez-Llanos, J.P., Nardi, E., Gossum, A. van, Lal, S., Pironi, L, Steiger, E., Joly, F., Wanten, G.J.A., Chambrier, C., Aimasso, U., Sasdelli, A.S., Szczepanek, K., Jukes, A., Theilla, M., Kunecki, M., Daniels, J., Serlie, M.J., Cooper, S.C., Poullenot, F., Rasmussen, H.H., Compher, C.W., Crivelli, A., Hughes, S.J., Santarpia, L., Guglielmi, F.W., Kozjek, N. Rotovnik, Ellegard, L., Schneider, S.M., Matras, P., Forbes, A., Wyer, N., Zmarzly, A., Taus, M., O'Callaghan, M., Osland, E., Thibault, R., Cuerda, C., Jones, L., Chapman, B., Sahin, P., Virgili, N.M., Lee, A.D. Won, Orlandoni, P., Matysiak, K., Caro, S. Di, Doitchinova-Simeonova, M., Masconale, L., Spaggiari, C., Garde, C., Serralde-Zúñiga, A.E., Olveira, G., Krznaric, Z., Jáuregui, E. Petrina, Murillo, A., Suárez-Llanos, J.P., Nardi, E., Gossum, A. van, and Lal, S.

Abstract

Contains fulltext : 225267.pdf (Publisher’s version ) (Closed access), BACKGROUND AND AIM: No marker to categorise the severity of chronic intestinal failure (CIF) has been developed. A 1-year international survey was carried out to investigate whether the European Society for Clinical Nutrition and Metabolism clinical classification of CIF, based on the type and volume of the intravenous supplementation (IVS), could be an indicator of CIF severity. METHODS: At baseline, participating home parenteral nutrition (HPN) centres enrolled all adults with ongoing CIF due to non-malignant disease; demographic data, body mass index, CIF mechanism, underlying disease, HPN duration and IVS category were recorded for each patient. The type of IVS was classified as fluid and electrolyte alone (FE) or parenteral nutrition admixture (PN). The mean daily IVS volume, calculated on a weekly basis, was categorised as <1, 1-2, 2-3 and >3 L/day. The severity of CIF was determined by patient outcome (still on HPN, weaned from HPN, deceased) and the occurrence of major HPN/CIF-related complications: intestinal failure-associated liver disease (IFALD), catheter-related venous thrombosis and catheter-related bloodstream infection (CRBSI). RESULTS: Fifty-one HPN centres included 2194 patients. The analysis showed that both IVS type and volume were independently associated with the odds of weaning from HPN (significantly higher for PN <1 L/day than for FE and all PN >1 L/day), patients' death (lower for FE, p=0.079), presence of IFALD cholestasis/liver failure and occurrence of CRBSI (significantly higher for PN 2-3 and PN >3 L/day). CONCLUSIONS: The type and volume of IVS required by patients with CIF could be indicators to categorise the severity of CIF in both clinical practice and research protocols.

Published
2020

95. Characterization of Serratia entomophila bacteriophages and the phage-resistant mutant strain BC4

Author

Grkovic, S., O'Callaghan, M., and Mahanty, H.K.

Subjects
Bacteriophages -- Analysis, Enterobacteriaceae -- Research, Biological sciences
Abstract

The enterobacteria Serratia entomophila strain BC4B strain contains phi-B prophages but no phi-9A phages. The A1MO2 strain is the parental strain of BC4B and contains both the phi-9A and phi-9B prophages. The prophages are temperature sensitive, UV inducible, and are released spontaneously. All the S. entomophila strains, except phi-CW3, contain homologous pac areas, but single phi-9A and phi-9B lysogens are not homoimmune to other S. entomophila phages. BC4B is phage resistant as the phages are unable to adsorb into the bacterial cells.

Published
1995

97. Exploitation of gene involved in 2,4-diacetylphloroglucinol biosynthesis to confer a new biocontrol capability to a Pseudomonas strain

Author

Fenton, A.M., Stephens, P.M., Crowley, J., O'Callaghan, M., and O'Gara, F.

Subjects
Pseudomonas -- Analysis, Biosynthesis -- Methods, Biological sciences
Abstract

The involvement of 2,4-diacetylphloroglucinol (Phl) in the capacity of Pseudomonas sp. strain F113to act as a biocontrol agent on sugar beet seeds in nonsterilized soil is studied. A Phl production-negative mutant was partially complemented by a recombinant plasmid containing this region. The ability of Pseudomonas strain in increasing the emergence of sugar beet seeds involving these genes was demonstrated.

Published
1992

98. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Author

Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J, Aguirre F, Aleu M, Alonso X, Alsius M, Amoros M, Antinolo G, Aquino L, Arellano C, Arriola G, Arteaga R, Baena N, Barcos M, Belzunces N, Boronat S, Camacho T, Campistol J, del Campo M, Campo A, Cancho R, Candau R, Canos I, Carrascosa M, Carratala-Marco F, Casano J, Castro P, Cobo A, Colomer J, Conejo D, Corrales M, Cortes R, Cruz G, Csanyi G, de Santos M, de Toledo M, Del Campo M, Del Toro M, Domingo R, Duat A, Duque R, Esparza A, Fernandez R, Fons M, Fontalba A, Galan E, Gallano P, Gamundi M, Garcia P, Garcia M, Garcia-Barcina M, Garcia-Catalan M, Garcia-Cazorla A, Garcia-Minaur S, Garcia-Penas J, Garcia-Silva M, Gassio R, Gean E, Gil B, Gokben S, Gonzalez L, Gonzalez V, Gonzalez J, Gonzalez G, Guillen E, Guitart M, Guitet M, Gutierrez J, Gutierrez E, Herranz J, Iglesias G, Karacic I, Lahoz C, Lao J, Lapunzina P, Lautre-Ecenarro M, Lluch M, Lopez L, Lopez-Ariztegui A, Macaya A, Marin R, Marquez C, Martin E, Martinez B, Martinez-Salcedo E, Mas M, Mateo G, Mendez P, Jimenez A, Moreno S, Mulas F, Narbona J, Nascimento A, Nieto M, Nunes T, Nunez N, Obon M, Onsurbe I, Ortez C, Orts E, Martinez F, Parrilla R, Pascual S, Patino A, Perez-Poyato M, Perez-Duenas B, Poo P, Puche E, Ramos F, Raspall M, Roche A, Roldan S, Rosell J, Ruiz C, Ruiz-Falco M, Russi M, Samarra J, San Antonio V, Sanchez I, Sanmartin X, Sans A, Santacana A, Scholl-Burgi S, Serrano N, Serrano M, Martin-Tamayo P, Tendero A, Torrents J, Tortosa D, Trivino E, Troncoso L, Turon E, Vazquez P, Vazquez C, Velazquez R, Ventura C, Verdu A, Vernet A, Vila M, Villar C, Rett Working Grp, Ege Üniversitesi, [Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Pacheco P] Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain. [Brandi N] Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
0301 basic medicine, alelos, Methyl-CpG-Binding Protein 2, Rett, Síndrome de, humanos, lcsh:Medicine, medicine.disease_cause, 0302 clinical medicine, Genes, X-Linked, X Chromosome Inactivation, Genetic Phenomena::Gene Expression Regulation::Epigenesis, Genetic::Dosage Compensation, Genetic::X Chromosome Inactivation [PHENOMENA AND PROCESSES], Genotype, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::trastornos heredodegenerativos del sistema nervioso::retraso mental ligado al cromosoma X::síndrome de Rett [ENFERMEDADES], lcsh:Science, genes, X chromosome, Genetics, Mutation, Multidisciplinary, Molecular medicine, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Heredodegenerative Disorders, Nervous System::Mental Retardation, X-Linked::Rett Syndrome [DISEASES], Brain, Phenotype, estudios de asociación genética, fenotipo, Female, Sequence Analysis, encéfalo, inactivación del cromosoma X, análisis de secuencias, congenital, hereditary, and neonatal diseases and abnormalities, fenómenos genéticos::regulación de la expresión génica::epigénesis genética::compensación de dosis genética::inactivación del cromosoma X [FENÓMENOS Y PROCESOS], Rett syndrome, Biology, X-inactivation, Article, MECP2, Cromosoma X, 03 medical and health sciences, medicine, Rett Syndrome, Humans, Genetic Predisposition to Disease, Allele, mutación, Amino Acids, Peptides, and Proteins::Proteins::Amino Acids, Peptides, and Proteins::Proteins::Nuclear Proteins::Chromosomal Proteins, Non-Histone::Amino Acids, Peptides, and Proteins::Proteins::Methyl-CpG-Binding Protein 2 [CHEMICALS AND DRUGS], Alleles, Genetic Association Studies, proteína 2 de unión a metil-CpG, lcsh:R, predisposición genética a la enfermedad, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, aminoácidos, péptidos y proteínas::proteínas::aminoácidos, péptidos y proteínas::proteínas::aminoácidos, péptidos y proteínas::proteínas::nucleoproteínas::proteínas cromosómicas no histona::proteína 2 de unión a metil-CpG [COMPUESTOS QUÍMICOS Y DROGAS], lcsh:Q, síndrome de Rett, genotipo, Transcripció genètica - Regulació, 030217 neurology & neurosurgery
Abstract

WOS: 000481590200024, PubMed ID: 31427717, Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern., Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER) [PI15/01159]; Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); Catalan Association for Rett Syndrome; Fondobiorett; Mi Princesa Rett, We thank all patients and their families who contributed to this study. The work was supported by grants from the Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER, PI15/01159); Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); the Catalan Association for Rett Syndrome; Fondobiorett and Mi Princesa Rett.

Published
2019

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