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The Iberian Roma Population Variant Server(IRPVS)

Journal of Genetics and Genomics 2024年第7期51卷 769-773页

作者： Fabiola Mavillard Javier Perez-Florido Francisco M.Ortuño Amador Valladares Miren L.Álvarez-Villegas Gema Roldán Rosario Carmona Manuel Soriano Santiago Susarte Pilar Fuentes Daniel López-López Ana María Nuñez-Negrillo Alejandra Carvajal Yolanda Morgado Daniel Arteaga Rosa Ufano Pablo Mir Juan F.Gamella Joaquín Dopazo carmen Paradas Macarena Cabrera-Serrano Instituto de Biomedicina de Sevilla(IBiS) Hospital Universitario Virgen del Rocío/CSIC/Universidad de SevillaSevillaSpain Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas(CIBERNED) Instituto de Salud CarlosⅢSevillaSpain Plataforma Andaluza de Medicina Computacional Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevillaSpain Grupo de medicina computacional de sistemas Instituto de Biomedicina de Sevilla(IBiS)Hospital Virgen del RocíoSevillaSpain Nodo de Genómica Funcional (INB-ELIXIR-es)Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevilla 41013Spain Bioinformática en Enfermedades raras(BiER) Centro de Investigación Biomédica en Red de Enfermedades Raras(CIBERER)Instituto de salud CarlosⅢSevillaSpain Departamento de Ingeniería de Computadores Automática y RobóticaUniversidad de GranadaGranadaSpain Servicio de Urgencias de Atención Primaria Distrito SevillaSevillaSpain Centro de Servicios Sociales Negociado de Servicios EspecializadosAyuntamiento de SevillaSevillaSpain Departamento de Enfermería Facultad de Ciencias de la SaludUniversidad de GranadaGranadaSpain Departamento de Neurología Hospital Virgen de las NievesGranadaSpain Departamento de Neurología Hospital Virgen de ValmeSevillaSpain Centro de Salud Utrera Sur SevillaSpain Centro de Salud Polígono Sur SevillaSpain Unidad de Trastornos del Movimiento Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain Departamento de Medicina Facultad de MedicinaUniversidad de SevillaSevilleSpain Departamento de Antropología Social Universidad de GranadaSpain Unidad Enfermedades Neuromusculares Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain

In recent years,the number of known disease genes has exponentially grown due to the widespread adoption of cost-effective massive parallel *** identify new disease variants,especially in monogenic disorders,a frequen... 详细信息

关键词： Server filtering massive

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Redox, immune and genetic biomarker system for personalized treatments in colorectal cancer

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World Journal of Gastrointestinal Oncology 2019年第2期11卷 117-138页

作者： Anna maria Berghella Anna Aureli Angelica Canossi Tiziana del Beato Alessia Colanardi Patrizia Pellegrini Istituto di Farmacologia Traslazionale Consiglio Nazionale delle Ricerche

BACKGROUND Identifying biomarkers for the risk of developing degenerative processes linked to aging and colorectal cancer(CRC) onset that could improve clinical *** To determine valid targets and a predictive biomarker's system of chronicization of inflammation for cancer *** A group of 147 CRC patients was studied. Clinical diagnosis was confirmed histopathologically, and patients were sub-typed using the pathological tumornode-metastasis classification. Thirteen colon adenoma patients and 219 healthy subjects were also studied. A system biology study on Thioredoxin1/CD30 redox-immune systems(Trx1/CD30), T helper cytokines and polymorphisms of killer immunoglobulin-like receptors, FcγRIIa-131 H/R and FcγRIIIa-158 V/F was carried out. Enzyme-linked immunosorbent assay was performed to analyze *** study was executed by polymerase chain reaction sequence-specific primers and sequence-based typing method. Statistical analysis was performed by using the "Statgraphics software systems".RESULTS We found a positive increase between Trx1/RTrx1 levels and sCD30 level and increased age. With respect to the gender relationships, there were distinct differences. Females showed a primary relationship between transforming growth factor beta(TGFβ) with Trx1, whereas males had one with TGFβ and RTrx1. Trx1/CD30 controls the redox immune homeostasis, and an imbalance in the relationship between the Trx1/RTrx1 and sCD30 levels is linked to the onset and progression of tumor. This event happens through different gender-specific cytokine pathways. Our study demonstrated that the serum levels ofTrx1/RTrx1, TGFβ/interleukin(IL)6 and TGFβ/IL4 combinations and the sCD30,IFNγ and IL2 combination constitute a predictive gender specific biomarker system. This is relevant for clinical screening to detect the risk of the potential development or progression of a *** Oxidative stress on Trx1/CD30 is a trigger of cancer disease, and the selected oxid

关键词： Aging and cancer biomarker Cancer personalized treatments Oxidation and immune biomarkers Trx1/CD30 target KIRs and FcγR polymorphisms Th cytokines Aging and disease Cancer-related mechanisms

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Sexual dimorphism in the antitumor immune responses elicited by the combination of fasting and chemotherapy

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Cancer Communications 2024年第4期44卷 508-513页

作者： Andrés Pastor-Fernández Manuel Montero Gómez de las Heras Jose Ignacio Escrig-Larena Marta Barradas Cristina Pantoja Adrian Plaza Jose Luis Lopez-Aceituno Esther Durán Alejo Efeyan maria Mittelbrunn Lola Martinez Pablo Jose Fernandez-Marcos Metabolic Syndrome Group(BIOPROMET) Madrid Institute for Advanced Studies(IMDEA)FoodE28049MadridSpain Molecular Biology Center Severo Ochoa(CBMSO) Spanish National Research Council(CSIC)Madrid Autonoma University(UAM)MadridSpain Department of Basic Medical Sciences Institute of Applied Molecular MedicineSchool of MedicineUniversity Studies Center(CEU)-San Pablo UniversityMadridSpain Metabolism and Cell Signaling Laboratory Spanish National Cancer Research Centre(CNIO) MadridSpain 5Flow Cytometry UnitBiotechnology ProgrammeSpanish National Cancer Research Centre(CNIO)MadridSpain

Fasting reduces chemotherapy toxicity[1],enhances immunogenic tumor cell death[2,3]and increases CD8^(+)T cell infiltration in tumors,particularly when combined with chemotherapy[2,3]or immunotherapy[4].More-over,fast... 详细信息

关键词： chemotherapy fasting immune

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Melaleuca quinquinervia(Cav.) S.T. Blake(Myrtales:Myrtaceae):Natural alternative for mosquito control

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Asian Pacific Journal of Tropical Medicine 2016年第10期9卷 957-962页

作者： Maureen Leyva Leidys French-Pacheco Felipe Quintana Domingo Montada Mayda Castex Ariel Hernandez María del carmen Marquetti Institute Tropical Medicine ‘Pedro Kouri’ Chemical Research Center Center for Integration and Social Welfare

Objective: To evaluate an essential oil with larvicide, adulticide and growth inhibitory activity against Aedes aegypti, Aedes albopictus and Culex quinquefasciatus mosquitoes, of medical importance. Methods: Standardized methodology by WHO was used to determine the levels of susceptibility of mosquito larvae exposed to the essential oil. To evaluate the adulticide activity with the essential oil at different doses, bottles were impregnated according to the methodology CDC. To determine the development inhibitory activity of Melaleuca quinquinervia(M. quinquinervia) oil in three mosquito species, third instar larvae were exposed to the LC_(50) and LC_(90) dose(calculated for each population) of M. quinquinervia oil in glass containers with a capacity of 500 mL. After 24 h exposure, the dead larvae were discarded. The mortality of larvae and pupae were recorded on a daily basis. Results: The calculated LC_(50) indicates an order of effectiveness of preferential oil for Culex quinquefasciatus(LC_(50)=0.002 1%), Aedes aegypti(LC_(50)=0.004 7%) and Aedes albopictus(LC_(50)=0.004 9%). Conclusions: The adulticide activity was achieved with impregnated bottles at 40 and 50 mg/mL with the three mosquitoes species. In larvae, a growth inhibition was detected when exposed to sublethal doses. The results indicate that M. quinquinervia is a plant with promising environmentally sustainable source for vector control.

关键词： Melaleuca quinquinervia Larvicidal activity Adulticidal activity Essential oils Aedes spp. Culex quinquefasciatus

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Hyperkalemia in Patients on Peritoneal Dialysis: Clinical Use Experience with New Potassium-Binders

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Open Journal of Nephrology 2024年第3期14卷 324-333页

作者： Gennaro Argentino Mario Iorio Alessandra Antonia Mele Andrea Camocardi Enrica Emanuela Cascone maria Elena Liberti Adelia Sagliocca Andrea Pota Luigi Russo maria Luisa Sirico Germano Terzini Michele Cavasso Chiara Mennillo Francesca Nettuno Raffaele Genualdo Giuseppe Surfaro Lucia Di Micco UOC Nefrologia e Dialisi Ospedale del Mare Naples Italy UOC Chirurgia Generale Ospedale del Mare Naples Italy

Background: Patients with end-stage kidney disease (ESKD) on maintenance dialysis have a high risk of developing hyperkalemia. In addition to traditional approaches, a new option for the management of patients on dialysis includes the use of a potassium binder, sodium zirconium cyclosilicate (SZC). We evaluated the effect and safety of SZC in patients with chronic PD. Objective: To present a case series that illustrates the real-world use of new potassium-binders in hyperkalemic patients on peritoneal dialysis. Methods: This case series collected 9 patients on PD with baseline potassium values > 5.5 mmol/l and who were treated with SZC 5 g once a day. Data were collected at baseline and at 1, 2, and 3 months after initiation of treatment. Results: The median age of patients was 64.5 years and the median duration of observation was 90 ± 5 days. It was observed that median serum potassium decreased (5.8 mmol/l at baseline with a range of 5.8 mmol/L - 6.8 mmol/L versus 4.5 in the third month with a range of 3.6 mmol/L - 5.3 mmol/L) after SZC treatment. Adverse events were observed in 2 (22.2%). The unique adverse event was constipation and presented in 2 patients (22.2%). Constipation was mild and transient during the observation period. No adverse events of special interest were reported. Conclusion: Normokalemia was established and maintained in this series of patients treated with SZC. No episodes of hyper- or hypo-kalemia were observed. SCZ had a good safety profile and was well tolerated over 3 months.

关键词： SZC Sodium Zirconium Cyclosilicate Hyperkalaemia Peritoneal Dialysis

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Antibacterial activity of five Peruvian medicinal plants against Pseudomonas aeruginosa

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Asian Pacific Journal of Tropical Biomedicine 2015年第11期5卷 928-931页

作者： Gabriela Ulloa-Urizar Miguel Angel Aguilar-Luis María del carmen De Lama-Odría José Camarena-Lizarzaburu Juana del Valle Mendoza Centro de Investigacin de la Facultad de Ciencias de la Salud Universidad Peruana de Ciencias Aplicadas-UPC Facultad de Ciencias Biolgicas Universidad Nacional Mayor de San Marcos (UNMSM) Instituto de Investigacin Nutricional

Objective: To evaluate the susceptibility of Pseudomonas aeruginosa(P. aeruginosa)in vitro to the ethanolic extracts obtained from five different Peruvian medicinal ***: The plants were chopped and soaked in absolute ethanol(1:2, w/v). The antibacterial activity of compounds against P. aeruginosa was evaluated using the cupplate agar diffusion ***: The extracts from Maytenus macrocarpa("Chuchuhuasi"), Dracontium loretense Krause("Jergon Sacha"), Tabebuia impetiginosa("Tahuari"), Eucalyptus camaldulensis Dehn(eucalyptus), Uncaria tomentosa("U?a de gato") exhibited favorable antibacterial activity against P. aeruginosa. The inhibitory effect of the extracts on the strains of P. aeruginosa tested demonstrated that Tabebuia impetiginosa and Maytenus macrocarpa possess higher antibacterial ***: The results of the present study scientifically validate the inhibitory capacity of the five medicinal plants attributed by their common use in folk medicine and contribute towards the development of new treatment options based on natural products.

关键词： Pseudomonas Medicinal plants Maytenus macrocarpa D

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Insights into the structural biology of G-protein coupled receptors impacts drug design for central nervous system neurodegenerative processes

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Neural Regeneration Research 2013年第24期8卷 2290-2302页

作者： Farfán-García Eunice Dalet Trujillo-Ferrara José Guadalupe Castillo-Hernández María del carmen Guerra-Araiza Christian Humberto Soriano-Ursúa Marvin Antonio Escuela Superior de Medicina Instituto Politécnico Nacional. Plan de San Luis y Díaz Mirón s/n Col. Casco de Santo Tomas

In the last few years, there have been important new insights into the structural biology of G-protein coupled receptors. It is now known that allosteric binding sites are involved in the affinity and selec- tivity of ligands for G-protein coupled receptors, and that signaling by these receptors involves both G-protein dependent and independent pathways. The present review outlines the physiological and pharmacological implications of this perspective for the design of new drugs to treat disorders of the central nervous system. Specifically, new possibilities are explored in relation to allosteric and or- thosteric binding sites on dopamine receptors for the treatment of Parkinson＇s disease, and on muscarinic receptors for Alzheimer＇s disease. Future research can seek to identify ligands that can bind to more than one site on the same receptor, or simultaneously bind to two receptors and form a dimer. For example, the design of bivalent drugs that can reach homo/hetero-dimers of D2 dopa- mine receptor holds promise as a relevant therapeutic strategy for Parkinson＇s disease. Regarding the treatment of Alzheimer＇s disease, the design of dualsteric ligands for mono-oligomeric mus- carinic receptors could increase therapeutic effectiveness by generating potent compounds that could activate more than one signaling pathway.

关键词： neural regeneration G-Protein coupled receptors structural biology drug design neurodegenera-tive disorders , oligomedzation biased signaling Parkinson's disease Alzheimer's disease dopa-mine receptors muscarinic receptors grants-supported paper neuroregeneration

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Sarcomatoid carcinoma of the jejunum presenting as obscure gastrointestinal bleeding in a patient with a history of gliosarcoma

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Gastroenterology Report 2014年第2期2卷 150-153页

作者： Nidia Alfonso Puentes carmen Jimenez-Alfaro Larrazabal maria Isabel Garcia Higuera Clinical Neurophysiology Department Hospital Universitario de BurgosSpain Department of Internal Medicine Hospital Universitario de BurgosSpain Department of Pathology Hospital Universitario de BurgosSpain

Small bowel malignant tumors are rare and sarcomatoid carcinomas have rarely been reported at this *** report a 56-year-old woman,with history of an excised gliosarcoma,who presented with recurrent obscure gastrointestinal *** underwent endoscopy and colonoscopy,which failed to identify the cause of the *** abdominal computed tomography scan located a tumor in the small *** revealed a jejunal sarcomatoid *** developed tumor recurrence and multiple liver metastases shortly after *** is required for accurate *** carcinoma is a rare cause of obscure gastrointestinal bleeding,which is associated with a poor prognosis.

关键词： obscure gastrointestinal bleeding small bowel tumors sarcomatoid carcinoma

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Antithrombotic therapy in TAVI

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Journal of Geriatric Cardiology 2018年第1期15卷 66-75页

作者： Manolis Vavuranakis Konstantinos Kalogeras Angelos Michail Kolokathis Dimitrios Vrachatis Nikolaos Magkoutis Gerasimos Siasos Euaggelos Oikonomou maria Kariori Theodoros Papaioannou maria Lavda carmen Moldovan Ourania Katsarou Dimitrios Tousoulis The First Department of Cardiology Hippokration Hospital Medical School National & Kapodistrian University of Athens Ilioupoli Greece

Transcatheter aortic valve implantation （TAVI） carries a significant thromboembolic and concomitant bleeding risk, not only during the procedure but also during the periprocedural period. Many issues concerning optimal antithrombotic therapy after TAVI are still under debate. In the present review, we aimed to identify all relevant studies evaluating antithrombotic therapeutic strategies in relation to clinical outcomes after the procedure. Four randomized control trials （RCT） were identified analyzing the post-TAVI antithrombotic strategy with all of them utilizing aspirin lifelong plus clopidogrel for 3-6 months. Seventeen registries have been identified, with a wide variance among them regarding baseline characteristics, while concerning antiplatelet therapy, clopidogrel duration was ranging from 3-12 months. Four non-randomized trials were identified, comparing single vs. dual antiplatelet therapy after TAVI, in respect of investigating thromboembolic outcome events over bleeding complications. Finally, limited data from a single RCT and a retrospective study exist with regards to anticoagulant treatment during the procedure and the optimal antithrombotic therapy when concomitant atrial fibrillation. In conclusion, due to the high risk and frailty of the treated population, antithrombotic therapy after TAVI should be carefully evaluated. Diminishing ischaemic and bleeding complications remains the main challenge in these patients with further studies to be needed in this field.

关键词： Antiplatelets Antithrombotic Bleeding Stroke Transcatheter aortic valve implantation

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Gingival enlargement induced by cyclosporine in Medullary aplasia:A case report

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World Journal of Clinical Cases 2022年第34期10卷 12750-12760页

作者： Giovanna Victory Rodríguez Alondra del carmen Ruiz Gutiérrez Juan Ramón Gómez Sandoval Sarah Monserrat LomelíMartínez Periodontics Program Department of Integrated Dentistry ClinicsCentro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Research Institute of Dentistry Department of Integrated Dentistry ClinicsCentro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Department of Medical and Life Sciences Centro Universitario de la CiénegaUniversidad de GuadalajaraOcotlán 47810JaliscoMexico

BACKGROUND Cyclosporine is an immunosuppressive agent used effectively for treatment of a rare haematological disorder known as medullary *** drug prevents several side effects,including gingival enlargement(GE)which compromises aesthetics,phonetics and chewing,and also predisposes patients to *** SUMMARY This clinical case reports a 41-year-old woman who presented with cyclosporineinduced GE with underlying periodontitis and medullary *** management of the disease was approached through multidisciplinary strategy which allowed for accurate diagnosis and a strategic treatment based on the systemic condition and severity of oral *** diagnosis was confirmed through histopathological *** treatment was carried out in phases:Initial(oral hygiene motivation,mechanical supragingival plaque control,and non-surgical therapy);systemic treatment,corrective treatment,and *** Multidisciplinary management of cyclosporine-induced GE and medullary aplasia allows for correct diagnosis and effective treatment of this pathological expression through a phased therapeutic approach.

关键词： Cyclosporine Gingival enlargement Medullary aplasia Periodontal surgery Case report

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