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Article ; Online: Accurate and detailed research methods are crucial for natural history research of recurrent acute pancreatitis: Author's reply.

Cruz, Luisa M / Corral, Juan E

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

2021 Volume 53, Issue 11, Page(s) 1518

MeSH term(s)	Acute Disease ; Humans ; Pancreatitis
Language	English
Publishing date	2021-08-16
Publishing country	Netherlands
Document type	Letter ; Comment
ZDB-ID	1459373-7
ISSN	1878-3562 ; 1125-8055
ISSN (online)	1878-3562
ISSN	1125-8055
DOI	10.1016/j.dld.2021.07.040
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Article ; Online: Response.

Corral, Juan E / Wallace, Michael B

Gastrointestinal endoscopy

2020 Volume 92, Issue 3, Page(s) 791–792

MeSH term(s)	COVID-19 ; Endoscopy ; Humans ; Polymerase Chain Reaction ; SARS-CoV-2
Keywords	covid19
Language	English
Publishing date	2020-08-24
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	391583-9
ISSN	1097-6779 ; 0016-5107
ISSN (online)	1097-6779
ISSN	0016-5107
DOI	10.1016/j.gie.2020.05.031
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Zs.B 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)
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Article ; Online: Response.

Corral, Juan E / Wallace, Michael B

Gastrointestinal endoscopy

2020 Volume 92, Issue 4, Page(s) 987–988

MeSH term(s)	COVID-19 ; Endoscopy ; Humans ; Polymerase Chain Reaction ; SARS-CoV-2
Keywords	covid19
Language	English
Publishing date	2020-09-14
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	391583-9
ISSN	1097-6779 ; 0016-5107
ISSN (online)	1097-6779
ISSN	0016-5107
DOI	10.1016/j.gie.2020.06.004
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Zs.B 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)
Zs.MO 519: Show issues

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Article ; Online: Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)

Sanchez-Flores, Marina / Corral-Juan, Marc / Gasch-Navalón, Esther / Cirillo, Davide / Sanchez, Ivelisse / Matilla-Dueñas, Antoni

Human genetics

2024 Volume 143, Issue 3, Page(s) 211–232

Abstract: Spinocerebellar ataxia subtype 37 (SCA37) is a rare disease originally identified in ataxia patients from the Iberian Peninsula with a pure cerebellar syndrome. SCA37 patients carry a pathogenic intronic (ATTTC)n repeat insertion flanked by two ... ...

Abstract	Spinocerebellar ataxia subtype 37 (SCA37) is a rare disease originally identified in ataxia patients from the Iberian Peninsula with a pure cerebellar syndrome. SCA37 patients carry a pathogenic intronic (ATTTC)n repeat insertion flanked by two polymorphic (ATTTT)n repeats in the Disabled-1 (DAB1) gene leading to cerebellar dysregulation. Herein, we determine the precise configuration of the pathogenic 5'(ATTTT)n-(ATTTC)n-3'(ATTTT)n SCA37 alleles by CRISPR-Cas9 and long-read nanopore sequencing, reveal their epigenomic signatures in SCA37 lymphocytes, fibroblasts, and cerebellar samples, and establish new molecular and clinical correlations. The 5'(ATTTT)n-(ATTTC)n-3'(ATTTT)n pathogenic allele configurations revealed repeat instability and differential methylation signatures. Disease age of onset negatively correlated with the (ATTTC)n, and positively correlated with the 3'(ATTTT)n. Geographic origin and gender significantly correlated with age of onset. Furthermore, significant predictive regression models were obtained by machine learning for age of onset and disease evolution by considering gender, the (ATTTC)n, the 3'(ATTTT)n, and seven CpG positions differentially methylated in SCA37 cerebellum. A common 964-kb genomic region spanning the (ATTTC)n insertion was identified in all SCA37 patients analysed from Portugal and Spain, evidencing a common origin of the SCA37 mutation in the Iberian Peninsula originating 859 years ago (95% CI 647-1378). In conclusion, we demonstrate an accurate determination of the size and configuration of the regulatory 5'(ATTTT)n-(ATTTC)n-3'(ATTTT)n repeat tract, avoiding PCR bias amplification using CRISPR/Cas9-enrichment and nanopore long-read sequencing, resulting relevant for accurate genetic diagnosis of SCA37. Moreover, we determine novel significant genotype-phenotype correlations in SCA37 and identify differential cerebellar allele-specific methylation signatures that may underlie DAB1 pathogenic dysregulation.
MeSH term(s)	Humans ; Spinocerebellar Ataxias/genetics ; DNA Methylation ; Female ; Male ; Alleles ; Cerebellum/pathology ; Cerebellum/metabolism ; Genetic Association Studies ; Middle Aged ; Adult ; Mutagenesis, Insertional ; Aged ; Age of Onset
Language	English
Publishing date	2024-02-23
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-024-02644-7
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Zs.A 256: Show issues

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Article ; Online: Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.

Martins, Sandra / Yahia, Ashraf / Costa, Inês P D / Siddig, Hassab E / Abubaker, Rayan / Koko, Mahmoud / Corral-Juan, Marc / Matilla-Dueñas, Antoni / Brice, Alexis / Durr, Alexandra / Leguern, Eric / Ranum, Laura P W / Amorim, António / Elsayed, Liena E O / Stevanin, Giovanni / Sequeiros, Jorge

Human genetics

2023 Volume 142, Issue 12, Page(s) 1747–1754

Abstract: Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) ...

Abstract	Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG)
MeSH term(s)	Male ; Humans ; Young Adult ; Adult ; Machado-Joseph Disease/genetics ; Machado-Joseph Disease/diagnosis ; Portugal ; Muscle Cramp ; Dysarthria ; Phylogeny ; Africa, Eastern
Language	English
Publishing date	2023-11-14
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-023-02611-8
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Article ; Online: Endoscopic Retrograde Cholangiopancreatography Performed by Trainees Is Not Associated with Increased Immediate Adverse Events or Technical Failure Rates.

Osagiede, Osayande / Lukens, Frank J / Kumbhari, Vivek / Corral, Juan E

Digestive diseases and sciences

2022 Volume 68, Issue 5, Page(s) 1747–1753

Abstract: Background/aim: Training endoscopists to perform endoscopic retrograde cholangiopancreatography (ERCP) is critical to address the increasing patient population with pancreatobiliary diseases. Concerns remain about ERCP safety and success involving ... ...

Abstract	Background/aim: Training endoscopists to perform endoscopic retrograde cholangiopancreatography (ERCP) is critical to address the increasing patient population with pancreatobiliary diseases. Concerns remain about ERCP safety and success involving trainees. We compared the technical success and immediate adverse events between ERCP with and without trainee involvement. Methods: Retrospective analysis of 28,271 ERCP procedures in a national sample of the United States over 12 years. Demographics, procedure and fluoroscopy time, visualization and cannulation of main structures, adverse events, and technical success rates were compared between ERCP with and without trainees. Categorical variables were compared using Pearson's chi-square test and continuous variables using a standard t-test. Univariate and multivariate regressions were performed adjusting for age, gender, ethnicity, US region, ASA class and clinical setting. Results: Approximately 49.5% of ERCPs had a trainee involved. The ampulla was visualized in 97.4% with trainee vs. 97.3% without trainee involvement (P = 0.858). The common bile duct was visualized and cannulated in 90.4% with trainees vs. 91.7% without trainees involved (P < 0.001). The ERCP was incomplete in 5.9% of cases with trainees vs. 6.4% without trainees involved (P = 0.207). Trainee participation added 8.7 min to average procedure time (aOR: 1.02, P < 0.001) and 2.0 min to fluoroscopy time (aOR: 1.00, P = 0.796). Adverse events (aOR: 0.89, P = 0.704) and technical success (aOR: 0.83, P = 0.571) were similar in both groups. Conclusions: Trainee involvement leads to increased procedure duration but is not associated with increased immediate adverse events, or technical failure. Our study supports ERCP safety and success with trainee participation.
MeSH term(s)	Humans ; Cholangiopancreatography, Endoscopic Retrograde/adverse effects ; Cholangiopancreatography, Endoscopic Retrograde/methods ; Retrospective Studies ; Catheterization/methods ; Common Bile Duct
Language	English
Publishing date	2022-11-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	304250-9
ISSN	1573-2568 ; 0163-2116
ISSN (online)	1573-2568
ISSN	0163-2116
DOI	10.1007/s10620-022-07753-9
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Ui V Zs.35: Show issues

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Article ; Online: Pancreatic Cysts in Von Hippel-Lindau.

Bolaños, Gabriel A / Raimondo, Massimo / Corral, Juan E

Journal of general internal medicine

2021 Volume 37, Issue 1, Page(s) 241

MeSH term(s)	Humans ; Pancreatic Cyst/diagnostic imaging ; von Hippel-Lindau Disease/complications ; von Hippel-Lindau Disease/diagnosis
Language	English
Publishing date	2021-10-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	639008-0
ISSN	1525-1497 ; 0884-8734
ISSN (online)	1525-1497
ISSN	0884-8734
DOI	10.1007/s11606-021-07202-9
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Zs.A 2205: Show issues

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Article ; Online: Differences between Myeloschisis and Myelomeningocele in patients undergoing prenatal repair of Open Spina Bifida.

Müller, José Miguel / Corral Sereño, Edgardo / Jimenez, Aura / Zapata, Rodrigo / Echeverria, Silvana / Jara, Juan Pablo / Santibanez, Alvaro / Lindsay, Carolina / Anfossi, Renatto

Fetal diagnosis and therapy

2024

Abstract: Introduction: Open spina bifida (OSB) manifests as myelomeningocele (MMC) or myeloschisis (MS). Both lesions theoretically leak cerebrospinal fluid (CSF) and produce different degrees of Chiari II malformation (CHMII). However, it is not entirely clear ... ...

Abstract	Introduction: Open spina bifida (OSB) manifests as myelomeningocele (MMC) or myeloschisis (MS). Both lesions theoretically leak cerebrospinal fluid (CSF) and produce different degrees of Chiari II malformation (CHMII). However, it is not entirely clear whether these forms of OSB have different clinical manifestations. This study aimed to evaluate the clinical and/or radiological differences between myeloschisis and myelomeningocele in patients who underwent prenatal OSB repair. Methods: A total of 71 prenatal repairs were performed with the open technique at the Public Hospital of Rancagua, Chile, between 2012 and 2022. We performed follow-up MRI imaging of fetuses that qualified for prenatal OSB repair surgery. We examined the correlations between various anthropomorphic measurements and clinical and imaging variables, such as the type of lesion and dimensions such as ventricle atrium diameter, degree of severity of CHMII, need for CSF shunt at 12 months, and walking at 30 months. Results: This study included 71 fetuses with OSB for which 38 MRI examinations were analyzed; 61% (43/71) of lesions were MMC and 39% (28/71) were MS. Grade 3 (severe) CHMII were found in 80% (12/15) of MS and 43% (10/23) of MMC (p<0.05). Fetuses with an atrial diameter less than 13.48 mm had a lower probability of requiring a CSF shunt at 12 months (p<0.05). MMC was associated with a higher frequency of clubfoot at birth (p<0.05), whereas MS was significantly associated with more severe CHMII (p<0.05). Although the correlations were not significant, we observed clear trends that more children with MS required shunts at 12 months and could walk at 30 months compared to children with MMC. Conclusions: MS and MMC are distinct subtypes of OSB. Further studies of larger cohorts that include biomolecular and histological analysis are required to better understand differences between these lesions. This study may enable healthcare providers to better advise parents and prepare healthcare teams earlier for the management of patients undergoing prenatal repair of OSB.
Language	English
Publishing date	2024-03-12
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1066460-9
ISSN	1421-9964 ; 1015-3837
ISSN (online)	1421-9964
ISSN	1015-3837
DOI	10.1159/000538099
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Article ; Online: Smart collagen/xanthan gum-based hydrogels with antibacterial effect, drug release capacity and excellent performance

Gutierrez-Reyes, Jazmín E / Caldera-Villalobos, Martín / Claudio-Rizo, Jesús A / Cabrera-Munguía, Denis A / Becerra-Rodriguez, Juan J / Soriano-Corral, Florentino / Herrera-Guerrero, Adán

Biomedical materials (Bristol, England)

2023 Volume 18, Issue 3

Abstract: The design of hydrogels based on natural polymers that have modulation of antibacterial capacity, ideal performance in release capacity of encapsulated drugs, and desired bioactivity for applications in wound healing represents a modern trend in ... ...

Abstract	The design of hydrogels based on natural polymers that have modulation of antibacterial capacity, ideal performance in release capacity of encapsulated drugs, and desired bioactivity for applications in wound healing represents a modern trend in biomaterials. In this work, novel hydrogels of semi-interpenetrating polymeric networks based on collagen and xanthan gum (XG) were investigated. The linear chains of XG can semi-interpenetrate inside to matrix of crosslinked collagen with polyurethane under physiological conditions, generating amorphous surfaces with fibrillar-granular reliefs that have accelerated gelation time (about 15 min), super water absorption (up to 3100%) and high inhibition capacity of pathogenic bacteria such as
MeSH term(s)	Humans ; Drug Liberation ; Hydrogels/pharmacology ; Collagen/pharmacology ; Wound Healing ; Polymers/pharmacology ; Anti-Bacterial Agents/pharmacology
Chemical Substances	xanthan gum (TTV12P4NEE) ; Hydrogels ; Collagen (9007-34-5) ; Polymers ; Anti-Bacterial Agents
Language	English
Publishing date	2023-04-13
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2265222-X
ISSN	1748-605X ; 1748-6041
ISSN (online)	1748-605X
ISSN	1748-6041
DOI	10.1088/1748-605X/acc99c
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Zs.A 6626: Show issues

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Article ; Online: Ruta Gastronómica del cantón Cayambe provincia de Pichincha a partir de sus potencialidades territoriales. Ecuador

Juan Francisco Romero Corral

Revista Científica de FAREM-Estelí, Vol 11, Iss

2022 Volume 42

Abstract: ... cualitativo para la generación del diseño de esta ruta, así como establecer las técnicas e instrumentos ...

Abstract	Esta investigación se fundamenta en el diseño de una ruta gastronómica del Cantón Cayambe Provincia de Pichincha Ecuador a partir de las potencialidades territoriales presentes en la localidad desde el punto de vista ambiental, gastronómico y turístico, además se analizó la ruta epistemológica que sustenta la investigación desde el enfoque introspectivo vivencial, a través de la teoría fundamentada como método cualitativo para la generación del diseño de esta ruta, así como establecer las técnicas e instrumentos con las cuales se recopiló la información por medio de la aplicación de la codificación abierta, axial y selectiva para lograr los objetivos antes mencionados, se sustentó en los aportes teóricos de Paz Sandin (2003), Glaser y Strauss (1967), Strauss and Corbin (1996). Como objetivo de la investigación se plante diseñar una ruta gastronómica a partir de las potencialidades territoriales presentes en el cantón Cayambe. Como resultado obtenido de la codificación selectiva emergieron siete categorías en las cuales se logra plasmar las potencialidades territoriales tales como los recursos alimentarios, económicos, medioambientales, geográficas, culinarias, étnicas, sostenibles, turísticas y el patrimonio intangible y que a través de estas emergen la ruta gastronómica y las tres zonas de estudio que son parte del Cantón Cayambe como una nueva alternativa de planificación territorial del turismo gastronómico.
Keywords	Cayambe ; potencialidades ; ruta gastronómica ; Turismo ; Science ; Q
Language	Spanish
Publishing date	2022-08-01T00:00:00Z
Publisher	Facultad Regional Multidisciplinaria, Estelí. FAREM-Estelí
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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