Textos Completos Autorizados

Pediatría
SIIC selecciona textos completos de calidad y de reciente publicación en fuentes prestigiosas del mundo indizadas por SIIC Data Bases, capturadas en las mismas colecciones o en diversas bases especializadas.
La creciente cantidad de artículos con Acceso Abierto (Open Access) amplía la oferta de lectura pero a su vez también, entre tanta abundancia, complica al lector en su encuentro con los estudios fundamentales. Para facilitarlo, profesionales biomédicos de SIIC consultan diariamente una profusa cantidad de documentos que nutrirán Textos completos autorizados (TCA).

Las citas de la sección TCA enlazan de manera legal, autorizada y gratuita con los textos completos (full text) publicados en los sitios oficiales de sus respectivas fuentes.

SIIC creó, produjo y opera con exclusividad el software TCA para la interpretación de los diversos campos documentales que integran la estructura de un estudio: especialidad, modalidad del estudio, fuente, fechas de publicación y selección, definición de la fuente, limitaciones de consulta, resumen en castellano, etc.

Si bien la mayoría de los textos seleccionados corresponden a artículos originales, revisiones y guías, los lectores también encontrarán comentarios, entrevistas, notas periodísticas, cartas a autores u otros textos precursores de debates o aclaratorios.

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Ej.1: Adipokines Ej.2: Adipokines or Musculoskeletal
Con la frase exacta
(inglés)

Ej.3: Adipokines and Cardiovascular Systems
Con todas de las palabras
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Ej.4: Adipokines and Cardiovascular and Systems
Sin las palabras
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Ej.5: not Cardiovascular Systems
Clinical oral investigations
Selección SIIC: 16 Mayo, 2024
Clinical oral investigations

Resin infiltration versus fluoride varnish for visual improvement of white spot lesions during multibracket treatment. A randomized-controlled clinical trial.

Resin infiltration versus fluoride varnish for visual improvement of white spot lesions during multibracket treatment. A randomized-controlled clinical trial.

Fuente:Clinical Oral Investigations

Extracto: WSL infiltration management during orthodontic treatment was superior to topical fluoridation in not only arresting the enamel lesions but also significantly improving the aesthetic appearance of demineralized regions around the brackets. CLINICAL RELEVANCE: WSL treatment in orthodontic patients is usually initiated after debonding. Research has shown that the earlier WSL is treated, the better the aesthetic outcome. There is limited data on the efficacy of resin infiltration of WSL during orthodontic treatment.

Claves:Demineralization, Fluoride, Multibracket appliance, Orthodontics, Resin infiltration, White spot lesions

Cita:Clin Oral Investig 2024 May 11; 28 (6) : 308.

Autor/es:Kashash, Yamen (a)
Hein, Sascha (b)

institución:(a) Depatment of Orthodontics and Dentofacial Orthopedics, Charité - Universitätsmedizin Berlin, Aßmannshauser Straße 4-6, 14197, Berlin, Germany.
(b) School of Design, University of Leeds, Woodhouse Lane, Leeds, LS2 9JT, England.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Alemania

Sitio web:http://dx.doi.org/10.1007/s00784-024-05695-2

BMC pediatrics
Selección SIIC: 16 Mayo, 2024
BMC pediatrics

Impact of inadequate empirical antibiotic treatment on outcome of non-critically ill children with bacterial infections.

Impact of inadequate empirical antibiotic treatment on outcome of non-critically ill children with bacterial infections.

Fuente:Bmc Pediatrics

Tipo de trabajo:Revisión

Extracto: inadequate antibiotic treatment did not affect the outcomes of non-critically ill children with bacterial infectious diseases. Therefore, routine empirical broad-spectrum treatment may not be necessary for these cases, as it can lead to additional costs and contribute to antibiotic resistance. Larger prospective studies are needed to confirm these findings.

Claves:Bacteremia, Children, Inadequate antibiotic treatment, Renal abnormalities, Risk factors

Cita:BMC Pediatr 2024 May 11; 24 (1) : 324.

Autor/es:Dar, Amit (a)
Abram, Tali Bdolah (b)

institución:(a) Department of Internal Medicine, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.
(b) Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12887-024-04793-0

Scientific reports
Selección SIIC: 16 Mayo, 2024
Scientific reports

Exploratory factor analysis yields grouping of brain injury biomarkers significantly associated with outcomes in neonatal and pediatric ECMO.

Exploratory factor analysis yields grouping of brain injury biomarkers significantly associated with outcomes in neonatal and pediatric ECMO.

Fuente:Scientific Reports

Extracto: Application of EFA on plasma brain injury biomarkers in children on ECMO yielded grouping of biomarkers into three factors that were significantly associated with unfavorable outcome, suggesting future potential as prognostic instruments.

Claves:Biomarkers, Brain injury, Child, Extracorporeal membrane oxygenation, Neurologic outcome

Cita:Sci Rep 2024 May 11; 14 (1) : 10790.

Autor/es:Huang, Victoria (a)
Roem, Jennifer (b)

institución:(a) Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, 1800 Orleans Street, Bloomberg Suite 6321, Baltimore, MD, 21287, USA.
(b) Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41598-024-61388-6

Selección SIIC: 16 Mayo, 2024

Predicting early mortality and severe intraventricular hemorrhage in very-low birth weight preterm infants: a nationwide, multicenter study using machine learning.

Predicting early mortality and severe intraventricular hemorrhage in very-low birth weight preterm infants: a nationwide, multicenter study using machine learning.

Fuente:Scientific Reports

Extracto: We developed a robust machine learning-based outcome predictor using only four accessible variables, offering valuable prognostic information for parents and aiding healthcare providers in decision-making.

Cita:Sci Rep 2024 May 12; 14 (1) : 10833.

Autor/es:Yang, Yun-Hsiang (a)
Wang, Ts-Ting (b)

institución:(a) Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, No.138, Sheng Li Road, Tainan, Taiwan.
(b) Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, No.138, Sheng Li Road, Tainan, Taiwan.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41598-024-61749-1

BMC oral health
Selección SIIC: 16 Mayo, 2024
BMC oral health

Simultaneous detection of dental caries and fissure sealant in intraoral photos by deep learning: a pilot study.

Simultaneous detection of dental caries and fissure sealant in intraoral photos by deep learning: a pilot study.

Fuente:Bmc Oral Health

Extracto: The proposed deep learning model achieved multi-task simultaneous detection in intraoral photos and showed good performance in the detection of dental caries and fissure sealants. Compared with 1-year dentist, the model has advantages in caries detection and is equivalent in fissure sealants detection.

Claves:Artificial intelligence, Deep learning, Dental caries, Fissure sealant

Cita:BMC Oral Health 2024 May 12; 24 (1) : 553.

Autor/es:Xiong, Yanshan (a)
Zhang, Hongyuan (b)

institución:(a) Department of Endodontics, Shenzhen Stomatology Hospital, Shenzhen, Guangdong, China.
(b) Medical AI Lab, School of Biomedical Engineering, Medical School, Shenzhen University, Shenzhen, Guangdong, China.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12903-024-04254-1

Scientific reports
Selección SIIC: 16 Mayo, 2024
Scientific reports

The knowledge regarding the impacts and management of black triangles among dental professionals and laypeople.

The knowledge regarding the impacts and management of black triangles among dental professionals and laypeople.

Fuente:Scientific Reports

Extracto: Age and gender had no relationships with the knowledge of causes or management of BT.

Claves:Appearance, Black triangles, Gingival embrasure, Interdental papillae, Knowledge, Satisfaction, Smile

Cita:Sci Rep 2024 May 12; 14 (1) : 10840.

Autor/es:Al-Omiri, Mahmoud K (a)
Atieh, Danial Waleed Ahmad (b)

institución:(a) Department of Fixed and Removable Prosthodontics, School of Dentistry, The University of Jordan, Queen Rania Street, Amman, 11942, Jordan. alomirim@yahoo.co.uk.
(b) Department of Prosthodontics, The City of London Dental School, Canada Water, Lower Road, London, UK. alomirim@yahoo.co.uk.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41598-024-61356-0

Frontiers in immunology
Selección SIIC: 16 Mayo, 2024
Frontiers in immunology

Transition to a mesenchymal state in neuroblastoma may be characterized by a high expression of GD2 and by the acquisition of immune escape from NK cells.

Transition to a mesenchymal state in neuroblastoma may be characterized by a high expression of GD2 and by the acquisition of immune escape from NK cells.

Fuente:Frontiers in Immunology

Extracto: NB is a heterogeneous tumor representing a further hurdle in NB immunotherapy. However, different from what was reported with NB commercial cells and independent of their MES/ADRN phenotype, the expression of GD2 and its displayed sensitivity to anti-GD2 mAb ADCC indicated the possible effectiveness of anti-GD2 immunotherapy.

Claves:NK cells, ganglioside sialic acid-containing glycosphingolipid-2, immunotherapy, neuroblastoma, primary tumor cells

Cita:Front Immunol 2024; 15 : 1382931.

Autor/es:Di Matteo, Sabina (a)
Bilotta, Maria Teresa (b)

institución:(a) Tumour Immunology Unit, Bambino Gesù Children's Hospital Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
(b) Innate Lymphoid Cells Unit, Immunology Research Area, Bambino Gesù Children's Hospital Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Rome, Italy.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fimmu.2024.1382931

Journal of medicine and life

Selección SIIC: 16 Mayo, 2024

Journal of medicine and life

Parental perception of nocturnal enuresis in a local region of Saudi Arabia.

Parental perception of nocturnal enuresis in a local region of Saudi Arabia.

Fuente:Journal of Medicine and Life

Extracto: The level of education and the number of children were predictors of knowledge and a positive attitude toward NE in children.

Claves:children, nocturnal enuresis, perceptions

Cita:J Med Life 2024 Jan; 17 (1) : 73-80.

Autor/es:Alarfaj, Haytham Mohammed (a)
Almaqhawi, Abdullah (b)

institución:(a) Department of Surgery, College of Medicine, King Faisal University, Al Hofuf, Saudi Arabia.
(b) Department of Family and Community Medicine, College of Medicine, King Faisal University, Al Hofuf, Saudi Arabia.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe impreso

Idioma:Inglés

País de fuente:Rumania

Sitio web:http://dx.doi.org/10.25122/jml-2023-0423

PloS one
Selección SIIC: 16 Mayo, 2024
PloS one

Immortalized hepatocyte-like cells: A competent hepatocyte model for studying clinical HCV isolate infection.

Immortalized hepatocyte-like cells: A competent hepatocyte model for studying clinical HCV isolate infection.

Fuente:Plos One

Extracto: The insights from HCV-cell culture model hold promise for understanding disease pathogenesis and novel anti-HCV development.

Cita:PLoS One 2024; 19 (5) : e0303265.

Autor/es:Pewkliang, Yongyut (a)
Thongsri, Piyanoot (b)

institución:(a) Faculty of Medicine Ramathibodi Hospital, Program in Translational Medicine, Mahidol University, Rama VI Road, Rajathevi, Bangkok, Thailand.
(b) Faculty of Medicine Ramathibodi Hospital, Program in Translational Medicine, Mahidol University, Rama VI Road, Rajathevi, Bangkok, Thailand.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1371/journal.pone.0303265

Selección SIIC: 16 Mayo, 2024

Is refractive error a factor affecting scoliosis?

Is refractive error a factor affecting scoliosis?

Fuente:Plos One

Extracto: Refractive errors did not correlate with the development of scoliosis. However, BMI, living in rural areas and older age did correlate with the development of scoliosis.

Cita:PLoS One 2024; 19 (5) : e0303324.

Autor/es:Cai, Jianru (a)
Zhou, Yue (b)

institución:(a) Department of Ophthalmology, Second Affiliated Hospital of Nantong University, Nantong, Jiangsu Province, China.
(b) Department of Ophthalmology, Second Affiliated Hospital of Nantong University, Nantong, Jiangsu Province, China.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1371/journal.pone.0303324

Selección SIIC: 16 Mayo, 2024

Baseline characteristics of SARS-CoV-2 vaccine non-responders in a large population-based sample.

Baseline characteristics of SARS-CoV-2 vaccine non-responders in a large population-based sample.

Fuente:Plos One

Extracto: Consistent with smaller targeted studies, a large epidemiologic cohort bears the same conclusion and demonstrates immunocompromised, cancer, kidney disease, and the number of diseases are associated with vaccine non-response. This study suggests that those individuals, with chronic diseases with the potential to affect their immune system response, may need increased doses or repeated doses of COVID-19 vaccines to develop a protective antibody level.

Cita:PLoS One 2024; 19 (5) : e0303420.

Autor/es:Yaseen, Ashraf (a)
DeSantis, Stacia M (b)

institución:(a) The University of Texas Health Science Center at Houston, School of Public Health in Houston, Houston, TX, United States of America.
(b) The University of Texas Health Science Center at Houston, School of Public Health in Houston, Houston, TX, United States of America.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1371/journal.pone.0303420

Selección SIIC: 16 Mayo, 2024

Viral load suppression and its predictor among HIV seropositive people who receive enhanced adherence counseling at public health institutions in Bahir Dar, Northwest Ethiopia. Retrospective follow-up study.

Viral load suppression and its predictor among HIV seropositive people who receive enhanced adherence counseling at public health institutions in Bahir Dar, Northwest Ethiopia. Retrospective follow-up study.

Fuente:Plos One

Extracto: ND RECOMMENDATION: Most importantly, this study found that most people had suppressed viral loads after receiving enhanced adherence counseling. Significant predictors of viral load suppression included recurrent OI, length of stay on EAC, daily ARV dosing regimen, baseline viral load, and religion. Clients with a high baseline viral load and those who experience recurring opportunistic infections should get extra care during EAC sessions.

Cita:PLoS One 2024; 19 (5) : e0303243.

Autor/es:Belete, Minyichil Birhanu (a)
Bitew, Abebayehu (b)

institución:(a) Department of Pediatrics and Child Health Nursing, School of Health Sciences, College of Medicine and Health Sciences, Bahir Dar University, Bahir Dar, Ethiopia.
(b) Department of Epidemiology and Biostatistics, School of Public Health, College of Medicine and Health Sciences, Bahir Dar University, Bahir Dar, Ethiopia.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1371/journal.pone.0303243

Selección SIIC: 16 Mayo, 2024

An evaluation of the impact of social and structural determinants of health on forgone care during the COVID-19 pandemic in Baltimore, Maryland.

An evaluation of the impact of social and structural determinants of health on forgone care during the COVID-19 pandemic in Baltimore, Maryland.

Fuente:Plos One

Extracto: Finally, additional research is needed to better understand how healthcare access and utilization practices have changed during versus before the pandemic.

Cita:PLoS One 2024; 19 (5) : e0302064.

Autor/es:Meyer, Diane (a)
Lowensen, Kelly (b)

institución:(a) Center for Infectious Disease and Nursing Innovation, Johns Hopkins University, School of Nursing, Baltimore, MD, United States of America.
(b) Center for Health Security, Johns Hopkins University, Bloomberg School of Public Health, Baltimore, MD, United States of America.

Conflicto:S. Mehta receives material support from Abbott Diagnostics. This does not alter our adherence to PLOS ONE policies on sharing data and materials. The authors do not have any other conflicts of interest to disclose

Formato:Informe virtual

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1371/journal.pone.0302064

BMJ open
Selección SIIC: 16 Mayo, 2024
BMJ open

Assessing the impact of obesity interventions in the early years

Assessing the impact of obesity interventions in the early years

Fuente:Bmj Open

Tipo de trabajo:Revisión sistemática

Extracto: UK evidence was limited but some interventions showed promising results in promoting healthy growth. As part of a programme of policies, interventions in the early years may have an important role in reducing the risk of childhood obesity. PROSPERO REGISTRATION NUMBER: CRD42021290676.

Claves:Community child health, NUTRITION & DIETETICS, Obesity

Cita:BMJ Open 2024 May 13; 14 (5) : e076479.

Autor/es:Michalopoulou, Semina (a)
Sifaki, Maria (b)

institución:(a) Great Ormond Street Institute of Child Health, University College London, London, UK.
(b) Institute of Epidemiology and Health Care, University College London, London, UK.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1136/bmjopen-2023-076479

BMC psychiatry
Selección SIIC: 16 Mayo, 2024
BMC psychiatry

Obesity and lipid indices as predictors of depressive symptoms in middle-aged and elderly Chinese

Obesity and lipid indices as predictors of depressive symptoms in middle-aged and elderly Chinese

Fuente:Bmc Psychiatry

Tipo de trabajo:Estudio de cohortes

Extracto: The research indicates that in the middle-aged and elderly Chinese, most obesity- and lipid-related indices have statistical significance in predicting depressive symptoms, but the accuracy of these indicators in prediction is relatively low and may not be practical predictors.

Claves:Anthropometric indicators, Cohort study, Depressive symptoms, Lipid-related index, Middle-aged and elderly, Obesity

Cita:BMC Psychiatry 2024 May 10; 24 (1) : 351.

Autor/es:Zhang, Xiaoyun (a)
Wang, Ying (b)

institución:(a) Department of Graduate School, Wannan Medical College, 22 Wenchang West Road, Higher Education Park, Wuhu City, An Hui Province, People's Republic of China.
(b) Department of Graduate School, Wannan Medical College, 22 Wenchang West Road, Higher Education Park, Wuhu City, An Hui Province, People's Republic of China.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12888-024-05806-z

International journal of molecular sciences
Selección SIIC: 16 Mayo, 2024
International journal of molecular sciences

Paediatric Atopic Dermatitis: The Unexpected Impact on Life with a Specific Look at the Molecular Level.

Paediatric Atopic Dermatitis: The Unexpected Impact on Life with a Specific Look at the Molecular Level.

Fuente:International Journal of Molecular Sciences

Extracto: Drawing on a comprehensive review of the literature in PubMed/MedLine, our review offers an in-depth exploration of both the psychosocial impacts of AD and the molecular processes that contribute to this disorder.

Claves:anxiety, atopic dermatitis, cognitive dysfunction, quality of life, school performance

Cita:Int J Mol Sci 2024 Apr 27; 25 (9)

Autor/es:Artusa, Silvia (a)
Mazzuca, Giorgia (b)

institución:(a) Pediatric Clinic, Department of Surgical Sciences, Dentistry, Pediatrics and Gynecology, University of Verona, 37126 Verona, Italy.
(b) Pediatric Clinic, Department of Surgical Sciences, Dentistry, Pediatrics and Gynecology, University of Verona, 37126 Verona, Italy.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094778

Scientific reports
Selección SIIC: 16 Mayo, 2024
Scientific reports

Maternal serum alpha-1 antitrypsin levels in spontaneous preterm and term pregnancies.

Maternal serum alpha-1 antitrypsin levels in spontaneous preterm and term pregnancies.

Fuente:Scientific Reports

Extracto: We propose that during early pregnancy, complicated by subsequent SPTB, modest elevation of serum AAT associates with SPTB.

Cita:Sci Rep 2024 May 11; 14 (1) : 10819.

Autor/es:Tissarinen, Pinja (a)
Tiensuu, Heli (b)

institución:(a) Research Unit of Clinical Medicine and Medical Research Center, Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
(b) Research Unit of Clinical Medicine and Medical Research Center, Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, University of Oulu, PO Box 5000, 90014, Oulu, Finland.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41598-024-61206-z

Communications biology
Selección SIIC: 16 Mayo, 2024
Communications biology

Metabolic network analysis of pre-ASD newborns and 5-year-old children with autism spectrum disorder.

Metabolic network analysis of pre-ASD newborns and 5-year-old children with autism spectrum disorder.

Fuente:Communications Biology

Extracto: These results revealed previously unknown metabolic phenotypes, identified new developmental states of the metabolic correlation network, and underscored the role of mitochondrial functional changes, purine metabolism, and purinergic signaling in autism spectrum disorder.

Cita:Commun Biol 2024 May 10; 7 (1) : 536.

Autor/es:Lingampelly, Sai Sachin (a)
Naviaux, Jane C (b)

institución:(a) The Mitochondrial and Metabolic Disease Center, University of California, San Diego School of Medicine, San Diego, CA, 92103-8467, USA.
(b) Department of Medicine, University of California, San Diego School of Medicine, San Diego, CA, 92103-8467, USA.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s42003-024-06102-y

Nature communications
Selección SIIC: 16 Mayo, 2024
Nature communications

Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.

Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.

Fuente:Nature Communications

Extracto: Moreover, the introduction of p.R841H in wild type cells reduced such immunity, suggesting that this mutation is linked to the observed phenotypes.

Cita:Nat Commun 2024 May 10; 15 (1) : 3969.

Autor/es:Bibert, Stéphanie (a)
Quinodoz, Mathieu (b)

institución:(a) Infectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland.
(b) Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41467-024-48287-0

Human genomics
Selección SIIC: 16 Mayo, 2024
Human genomics

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Fuente:Human Genomics

Extracto: We developed a flexible and scalable assay to reliably detect genetic causes of 29 common LSDs in India. The assay consolidates the detection of multiple variant types in multiple sample types while having improved diagnostic yield at same or lower cost compared to current clinical paradigm.

Claves:Cost effective, Diagnostic yield, Dried blood spot, Lysosomal storage disorders, smMIP probes

Cita:Hum Genomics 2024 May 10; 18 (1) : 46.

Autor/es:Sheth, Harsh (a)
Nair, Aadhira (b)

institución:(a) FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. harsh.sheth@frige.co.in.
(b) FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015.

Conflicto:Harsh Sheth, Aadhira Nair and Jayesh Sheth are named as inventors on the patent describing the use of smMIP based target capture and associated computational analyses for simultaneous detection of single nucleotide variants and copy number variants in germline DNA. The patent is held by FRIGE’s Institute of Human Genetics (Patent ID: TEMP/E-1/30548/2022-MUM, submitted in May 2022). All other authors... masnoticias.gif

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s40246-024-00613-9

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