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1.
PLoS One ; 19(5): e0303712, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38722938

RESUMO

[This corrects the article DOI: 10.1371/journal.pone.0220135.].

2.
Opt Express ; 31(21): 34064-34073, 2023 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-37859171

RESUMO

By exploiting the excellent short-term phase stability between consecutive pulses from a free-running optical parametric oscillator frequency comb, we report the first example of hollow-core fiber-delivered heterodyne spectroscopy in the 3.1-3.8 µm wavelength range. The technique provides a means of spectroscopically interrogating a sample situated at the distal end of a fiber, with all electronics and light sources situated at the proximal end and with an inherent capability to suppress spectroscopically interfering features present in the free-space and in-fiber delivery path. Using a silica anti-resonant, hollow-core delivery fiber, we demonstrate high quality transmission and attenuated total reflectance spectroscopy of a plastic sample for fiber lengths of up to 40 m, significantly exceeding the few-meter lengths typically possible using solid-core fibers. The technique opens a route to implementing multi-species spectroscopic monitoring in remote and / or hostile industrial environments and medical applications.

3.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37495479

RESUMO

INTRODUCTION: Auditory hallucinations (AH) are one of the most prevalent symptoms of schizophrenia. They might cause several brain alterations, especially changes in the volumes of hippocampus and amygdala, regions related to the relay and processing of auditory cues and emotional memories. MATERIAL AND METHODS: We have recruited 41 patients with schizophrenia and persistent AH, 35 patients without AH, and 55 healthy controls. Using their MRIs, we have performed semiautomatic segmentations of the hippocampus and amygdala using Freesurfer. We have also performed bilateral correlations between the total PSYRATS score and the volumes of affected subregions and nuclei. RESULTS: In the hippocampus, we found bilateral increases in the volume of its hippocampal fissure and decreases in the right fimbria in patients with and without AH. The volume of the right hippocampal tail and left head of the granule cell layer from the dentate gyrus were decreased in patients with AH. In the amygdala, we found its left total volume was shrunk, and there was a decrease of its left accessory basal nucleus in patients with AH. CONCLUSIONS: We have detected volume alterations of different limbic structures likely due to the presence of AH. The volumes of the right hippocampal tail and left head of the granule cell layer from the dentate gyrus, and total volume of the amygdala and its accessory basal nucleus, were only affected in patients with AH. Bilateral volume alterations in the hippocampal fissure and right fimbria seem inherent of schizophrenia and due to traits not contemplated in our research.

4.
J Fungi (Basel) ; 9(3)2023 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-36983503

RESUMO

The classification of Mucorales encompasses a collection of basal fungi that have traditionally demonstrated an aversion to modern genetic manipulation techniques. This aversion led to a scarcity of knowledge regarding their biology compared to other fungal groups. However, the emergence of mucormycosis, a fungal disease caused by Mucorales, has attracted the attention of the clinical field, mainly because available therapies are ineffective for decreasing the fatal outcome associated with the disease. This revitalized curiosity about Mucorales and mucormycosis, also encouraged by the recent COVID-19 pandemic, has spurred a significant and productive effort to uncover their mysteries in recent years. Here, we elaborate on the most remarkable breakthroughs related to the recently discovered genetic advances in Mucorales and mucormycosis. The utilization of a few genetic study models has enabled the identification of virulence factors in Mucorales that were previously described in other pathogens. More notably, recent investigations have identified novel genes and mechanisms controlling the pathogenic potential of Mucorales and their interactions with the host, providing fresh avenues to devise new strategies against mucormycosis. Finally, new study models are allowing virulence studies that were previously hampered in Mucorales, predicting a prolific future for the field.

5.
Opt Express ; 30(22): 39624-39630, 2022 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-36298909

RESUMO

We present a Kerr-lens-modelocked, three-element, diode-pumped Ti:sapphire laser producing 111-fs pulses at a repetition frequency of 1.02 GHz. Self-starting soliton-modelocked operation with an output power of 106 mW was obtained when the laser was pumped at 1.0 W with a single 527-nm laser diode. The output exhibits a relative intensity noise of 0.06% (1 Hz - 1 MHz) and locking of the repetition rate to an external reference is demonstrated with a phase error of 1.7 mrad (1 Hz-1 MHz). The simplicity of the laser makes it an attractive candidate as a module for integration into larger systems.

6.
Opt Express ; 30(5): 7044-7052, 2022 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-35299476

RESUMO

High-resolution multi-species spectroscopy is achieved by delivering broadband 3-4-µm mid-infrared light through a 4.5-meter-long silica-based hollow-core optical fiber. Absorptions from H37Cl, H35Cl, H2O and CH4 present in the gas within the fiber core are observed, and the corresponding gas concentrations are obtained to 5-ppb precision using a high-resolution Fourier-transform spectrometer and a full-spectrum multi-species fitting algorithm. We show that by fully fitting the narrow absorption features of these light molecules their contributions can be nulled, enabling further spectroscopy of C3H6O and C3H8O contained in a Herriott cell after the fiber. As a demonstration of the potential to extend fiber-delivered broadband mid-infrared spectroscopy to significant distances, we present a high-resolution characterization of the transmission of a 63-meter length of hollow-core fiber, fully fitting the input and output spectra to obtain the intra-fiber gas concentrations. We show that, despite the fiber not having been purged, useful spectroscopic windows are still preserved which have the potential to enable hydrocarbon spectroscopy at the distal end of fibers with lengths of tens or even hundreds of meters.

7.
Artigo em Inglês | MEDLINE | ID: mdl-32750858

RESUMO

The FM-index is a data structure used in genomics for exact search of input sequences over large reference genomes. Algorithms based on the FM-index show an irregular memory access pattern, resulting in a memory bound problem. We analyze a recent implementation of the FM-index and highlight existing throughput-memory trade-offs, showing that memory requirements limit implementation of large k-steps. We propose COFI, a COmpressed FM-Index for large K-steps. COFI enables a 15-step FM-index using less than 16 GB for a human genome reference of 3 giga base pairs. An algorithm based on this new layout is evaluated on both a Knights Landing (KNL) and an Skylake-based system (SKX). We achieve average speed-ups of 1.46× and 1.39×, respectively, with respect to an state-of-the-art FM-index implementation that is already well optimized.


Assuntos
Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Algoritmos , Genoma Humano , Humanos , Alinhamento de Sequência , Análise de Sequência de DNA , Software
8.
Ind Eng Chem Res ; 60(26): 9409-9417, 2021 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-35273425

RESUMO

The upgrading of diluted methane emissions into valuable products can be accomplished at low temperatures (200 °C) by the direct partial oxidation of methanol over copper-exchanged zeolite catalysts. The reaction has been studied in a continuous fixed-bed reactor loaded with a Cu-mordenite catalyst, according to a three-step cyclic process: adsorption of methane, desorption of methanol, and reactivation of the catalyst. The purpose of the work is the use of methane emissions as feedstocks, which is challenging due to their low methane concentration and the presence of oxygen. Methane concentration had a marked influence on methane adsorption and methanol production (decreased from 164 µmol/g Cu for pure methane to 19 µmol/g Cu for 5% methane). The presence of oxygen, even in low concentrations (2.5%), reduced methane adsorption drastically. However, methanol production was only affected slightly (average decrease of 9%), concluding that methane adsorbed on the active centers yielding methanol is not influenced by oxygen.

9.
Clin Chem ; 66(3): 463-473, 2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-32068788

RESUMO

BACKGROUND: The specific characteristics of copy number variations (CNVs) require specific methods of detection and characterization. We developed the Easy One-Step Amplification and Labeling procedure for CNV detection (EOSAL-CNV), a new method based on proportional amplification and labeling of amplicons in 1 PCR. METHODS: We used tailed primers for specific amplification and a pair of labeling probes (only 1 labeled) for amplification and labeling of all amplicons in just 1 reaction. Products were loaded directly onto a capillary DNA sequencer for fragment sizing and quantification. Data obtained could be analyzed by Microsoft Excel spreadsheet or EOSAL-CNV analysis software. We developed the protocol using the LDLR (low density lipoprotein receptor) gene including 23 samples with 8 different CNVs. After optimizing the protocol, it was used for genes in the following multiplexes: BRCA1 (BRCA1 DNA repair associated), BRCA2 (BRCA2 DNA repair associated), CHEK2 (checkpoint kinase 2), MLH1 (mutL homolog 1) plus MSH6 (mutS homolog 6), MSH2 (mutS homolog 2) plus EPCAM (epithelial cell adhesion molecule) and chromosome 17 (especially the TP53 [tumor protein 53] gene). We compared our procedure with multiplex ligation-dependent probe amplification (MLPA). RESULTS: The simple procedure for CNV detection required 150 min, with <10 min of handwork. After analyzing >240 samples, EOSAL-CNV excluded the presence of CNVs in all controls, and in all cases, results were identical using MLPA and EOSAL-CNV. Analysis of the 17p region in tumor samples showed 100% similarity between fluorescent in situ hybridization and EOSAL-CNV. CONCLUSIONS: EOSAL-CNV allowed reliable, fast, easy detection and characterization of CNVs. It provides an alternative to targeted analysis methods such as MLPA.


Assuntos
Variações do Número de Cópias de DNA , Reação em Cadeia da Polimerase/métodos , Receptores de LDL/genética , Sondas de DNA/química , Sondas de DNA/metabolismo , Corantes Fluorescentes/química , Humanos , Hibridização in Situ Fluorescente , Reação em Cadeia da Polimerase Multiplex , Análise de Sequência de DNA
10.
IEEE/ACM Trans Comput Biol Bioinform ; 17(4): 1093-1104, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-30530369

RESUMO

FM-index is a compact data structure suitable for fast matches of short reads to large reference genomes. The matching algorithm using this index exhibits irregular memory access patterns that cause frequent cache misses, resulting in a memory bound problem. This paper analyzes different FM-index versions presented in the literature, focusing on those computing aspects related to the data access. As a result of the analysis, we propose a new organization of FM-index that minimizes the demand for memory bandwidth, allowing a great improvement of performance on processors with high-bandwidth memory, such as the second-generation Intel Xeon Phi (Knights Landing, or KNL), integrating ultra high-bandwidth stacked memory technology. As the roofline model shows, our implementation reaches 95 percent of the peak random access bandwidth limit when executed on the KNL and almost all of the available bandwidth when executed on other Intel Xeon architectures with conventional DDR memory. In addition, the obtained throughput in KNL is much higher than the results reported for GPUs in the literature.


Assuntos
Genômica , Alinhamento de Sequência , Algoritmos , Computadores , DNA/genética , Genoma Humano/genética , Genômica/instrumentação , Genômica/métodos , Humanos , Alinhamento de Sequência/instrumentação , Alinhamento de Sequência/métodos
11.
Opt Lett ; 44(21): 5270-5273, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31674985

RESUMO

Diode-pumping of Ti:sapphire provides a low-cost route to high-quality frequency-comb sources, exploiting the potential of direct diode modulation for wideband control of the carrier-envelope-offset frequency. We present here an fREP- and fCEO-locked, directly diode-pumped Ti:sapphire frequency comb, producing 66-fs pulses at 800 nm and employing f-to-2f interferometry and current modulation of a 462-nm blue laser diode to achieve a stabilization bandwidth extending to ∼70 kHz. Characterizations of the fREP and fCEO phase noise are compared to relative intensity noise spectra of the pump diodes to provide insights into how the diode design and performance transfer into the comb stability, suggesting a lower contribution to fREP and fCEO noise from the blue laser diode than from the green diode.

12.
PLoS One ; 14(8): e0220135, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31369592

RESUMO

SPEC CPU is one of the most common benchmark suites used in computer architecture research. CPU2017 has recently been released to replace CPU2006. In this paper we present a detailed evaluation of the memory hierarchy performance for both the CPU2006 and single-threaded CPU2017 benchmarks. The experiments were executed on an Intel Xeon Skylake-SP, which is the first Intel processor to implement a mostly non-inclusive last-level cache (LLC). We present a classification of the benchmarks according to their memory pressure and analyze the performance impact of different LLC sizes. We also test all the hardware prefetchers showing they improve performance in most of the benchmarks. After comprehensive experimentation, we can highlight the following conclusions: i) almost half of SPEC CPU benchmarks have very low miss ratios in the second and third level caches, even with small LLC sizes and without hardware prefetching, ii) overall, the SPEC CPU2017 benchmarks demand even less memory hierarchy resources than the SPEC CPU2006 ones, iii) hardware prefetching is very effective in reducing LLC misses for most benchmarks, even with the smallest LLC size, and iv) from the memory hierarchy standpoint the methodologies commonly used to select benchmarks or simulation points do not guarantee representative workloads.


Assuntos
Algoritmos , Benchmarking , Sistemas Computacionais/normas , Computadores/normas , Software
13.
Rev Sci Instrum ; 90(4): 045116, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31043009

RESUMO

In this work, we present a commercial CMOS (Complementary Metal Oxide Semiconductor) Raspberry Pi camera implemented as a Near-Infrared detector for both spatial and temporal characterization of femtosecond pulses delivered from a femtosecond Erbium Doped Fiber laser (fs-EDFL) @ 1.55 µm, based on the Two Photon Absorption (TPA) process. The capacity of the device was assessed by measuring the spatial beam profile of the fs-EDFL and comparing the experimental results with the theoretical Fresnel diffraction pattern. We also demonstrate the potential of the CMOS Raspberry Pi camera as a wavefront sensor through its a nonlinear response in a Shack-Hartmann array and for the temporal characterization of the femtosecond pulses delivered from the fs-EDFL through TPA Intensity autocorrelation measurements. The direct pulse detection and measurement, through the nonlinear response with a CMOS, is proposed as a novel and affordable high-resolution and high-sensitivity alternative to costly detectors such as CCDs, wavefront sensors and beam profilers @ 1.55 µm. The measured fluence threshold, down to 17.5 µJ/cm2, and pJ/pulse energy response represents the lowest reported values applied as a beam profiler and a TPA Shack-Hartmann wavefront sensor, to our knowledge.

16.
Rev Sci Instrum ; 86(8): 085114, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26329240

RESUMO

In this work, we present an electromagnetic focusing mechanism (EFM), from a commercial webcam, implemented as a delay line of a femtosecond laser pulse characterization system. The characterization system consists on a second order autocorrelator based on a two-photon-absorption detection. The results presented here were performed for two different home-made femtosecond oscillators: Ti:sapph @ 820 nm and highly chirped pulses generated with an Erbium Doped Fiber @ 1550 nm. The EFM applied as a delay line represents an excellent alternative due its performance in terms of stability, resolution, and long scan range up to 3 ps. Due its low power consumption, the device can be connected through the Universal Serial Bus (USB) port. Details of components, schematics of electronic controls, and detection systems are presented.

17.
PLoS One ; 9(2): e98227, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24918908

RESUMO

To identify factors related with the risk to develop microalbuminuria using combined genomic and metabolomic values from a general population study. One thousand five hundred and two subjects, Caucasian, more than 18 years, representative of the general population, were included. Blood pressure measurement and albumin/creatinine ratio were measured in a urine sample. Using SNPlex, 1251 SNPs potentially associated to urinary albumin excretion (UAE) were analyzed. Serum metabolomic profile was assessed by 1H NMR spectra using a Brucker Advance DRX 600 spectrometer. From the total population, 1217 (mean age 54 ± 19, 50.6% men, ACR>30 mg/g in 81 subjects) with high genotyping call rate were analysed. A characteristic metabolomic profile, which included products from mitochondrial and extra mitochondrial metabolism as well as branched amino acids and their derivative signals, were observed in microalbuminuric as compare to normoalbuminuric subjects. The comparison of the metabolomic profile between subjects with different UAE status for each of the genotypes associated to microalbuminuria revealed two SNPs, the rs10492025_TT of RPH3A gene and the rs4359_CC of ACE gene, with minimal or no statistically significant differences. Subjects with and without microalbuminuria, who shared the same genotype and metabolomic profile, differed in age. Microalbuminurics with the CC genotype of the rs4359 polymorphism and with the TT genotype of the rs10492025 polymorphism were seven years older and seventeen years younger, respectively as compared to the whole microalbuminuric subjects. With the same metabolomic environment, characteristic of subjects with microalbuminuria, the TT genotype of the rs10492025 polymorphism seems to increase and the CC genotype of the rs4359 polymorphism seems to reduce risk to develop microalbuminuria.


Assuntos
Albuminúria/genética , Albuminúria/metabolismo , Metaboloma , Polimorfismo de Nucleotídeo Único , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Idoso , Albuminúria/sangue , Albuminúria/diagnóstico , Feminino , Genômica , Genótipo , Humanos , Masculino , Metabolômica , Pessoa de Meia-Idade , Mitocôndrias/genética , Mitocôndrias/metabolismo , Proteínas do Tecido Nervoso/genética , Peptidil Dipeptidase A/genética , Proteínas de Transporte Vesicular/genética , Rabfilina-3A
18.
Obes Surg ; 24(5): 747-52, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24390732

RESUMO

The prevalence and severity of obesity in children and adolescents has been increasing in recent years at an unprecedented rate. Morbidly obese children will almost certainly develop severe comorbidities as they progress to adulthood, and bariatric surgery may provide the only alternative for achieving a healthy weight. The aim of this study was to assess the long-term outcomes and safety of laparoscopic sleeve gastrectomy (LSG) and Roux-en-Y gastric bypass (RYGB) as new treatment modalities for morbidly obese adolescents. We conducted a retrospective review of a prospectively collected database of all adolescent patients who underwent LSG and RYGB under IRB protocol at the Bariatric and Metabolic Institute in Cleveland Clinic Florida between 2002 and 2011. Patients were also contacted by phone, adhering to HIPAA regulations, and were asked to answer a survey. Eighteen adolescents had a bariatric procedure performed at this institution. The mean age was 17.5 years, the average weight was 293.1 lbs, and the average BMI was 47.2 kg/m2. The mean follow-up period consisted of 55.2 months. The postoperative weight at 55 months follow-up was 188.4 lbs and average BMI was 30.1 kg/m2. Fifteen of the patients were available for follow-up. Thirteen out of 16 (81%) comorbidities in patients available for follow-up were in remission following rapid weight loss. The long-term follow-up and perioperative morbidity shown in this study suggest that LSG and LRYGB appear to be safe and effective operations in morbidly obese adolescents.


Assuntos
Diabetes Mellitus Tipo 2/cirurgia , Derivação Gástrica , Refluxo Gastroesofágico/cirurgia , Hipercolesterolemia/cirurgia , Laparoscopia , Obesidade Mórbida/cirurgia , Síndromes da Apneia do Sono/cirurgia , Redução de Peso , Adolescente , Índice de Massa Corporal , Comorbidade , Diabetes Mellitus Tipo 2/prevenção & controle , Feminino , Florida/epidemiologia , Seguimentos , Refluxo Gastroesofágico/prevenção & controle , Humanos , Hipercolesterolemia/prevenção & controle , Masculino , Obesidade Mórbida/epidemiologia , Satisfação do Paciente , Seleção de Pacientes , Guias de Prática Clínica como Assunto , Indução de Remissão , Estudos Retrospectivos , Medição de Risco , Síndromes da Apneia do Sono/prevenção & controle , Fatores de Tempo , Resultado do Tratamento
19.
Rev cienc méd pinar río ; 17(2)mar.-abr. 2013. tab
Artigo em Espanhol | CUMED | ID: cum-53651

RESUMO

El asesoramiento genético actualmente constituye el medio más efectivo de prevención de las enfermedades genéticas, siendo este un eslabón importante en el desarrollo de los programas de la Genética Médica Comunitaria.El objetivo fue caracterizar la efectividad y el estado de los servicios de Asesoramiento Genético en el municipio de San Juan y Martínez, Provincia Pinar del Río en el período comprendido entre los años 2003-2009.De realizó un estudio retrospectivo de tipo descriptivo de corte transversal. Se seleccionó mediante un muestreo no probabilístico a 50 familias. Se aplicó una entrevista que evaluó diferentes variables tales como la efectividad del Asesoramiento Genético, la satisfacción con los servicios de asesoramiento genético, los aspectos éticos del asesoramiento genético entre otras.Se obtuvo una mejoría de los indicadores de cobertura de los programas de genética en el último período, para un alto por ciento de los encuestados fue buena la efectividad del asesoramiento genético y están satisfechos con el servicio de asesoramiento genético.Con el presente trabajo se demuestra la caracterización de los servicios de asesoramiento genético, siendo evaluado de favorable la efectividad del asesoramiento genético, así como los servicios y el desempeño de los másteres en Asesoramiento Genético (AU)


Currently genetic counseling constitutes the most effective way to prevent genetic diseases, which is a very important link to the development of Community Medical Genetics. The objective was to characterize the effectiveness and state of Genetic Counseling in San Juan y Martinez, Pinar del Rio province during 2003-2009. A retrospective, descriptive and cross sectional study was carried out. Through a non-probabilistic sampling 50 families were chosen. An interview was applied assessing different variables: effectiveness of genetic counseling, satisfaction with the services and the ethical aspects of the genetic counseling among others.Some improvements were observed in the last period concerning the coverage of genetic programs, where a high percentage of those polled considered the effectiveness of genetic counseling as good and showed satisfaction. The characterization of genetic counseling is very important to diagnose and prevent genetic diseases and congenital defects in San Juan y Martinez municipality (AU)


Assuntos
Humanos , Aconselhamento Genético/ética , Genética
20.
Rev. cienc. med. Pinar Rio ; 17(2): 58-68, mar.-abr. 2013.
Artigo em Espanhol | LILACS | ID: lil-739886

RESUMO

Introducción: el Asesoramiento Genético actualmente constituye el medio más efectivo de prevención de las enfermedades genéticas, siendo este un eslabón importante en el desarrollo de los programas de la Genética Médica Comunitaria. Objetivo: caracterizar la efectividad y el estado de los servicios de Asesoramiento Genético en el municipio de San Juan y Martínez, Provincia Pinar del Río en el período comprendido entre los años 2003-2009. Material y método: se realizó un estudio retrospectivo de tipo descriptivo de corte transversal. Se seleccionó mediante un muestreo no probabilístico a 50 familias. Se aplicó una entrevista que evaluó diferentes variables tales como la efectividad del Asesoramiento Genético, la satisfacción con los servicios de asesoramiento genético, los aspectos éticos del asesoramiento genético entre otras. Resultados: se obtuvo una mejoría de los indicadores de cobertura de los programas de genética en el último período, para un alto por ciento de los encuestados fue buena la efectividad del asesoramiento genético y están satisfechos con el servicio de asesoramiento genético. Conclusiones: con el presente trabajo se demuestra la caracterización de los servicios de asesoramiento genético, siendo evaluado de favorable la efectividad del asesoramiento genético, así como los servicios y el desempeño de los másteres en Asesoramiento Genético.


Introduction: currently genetic counseling constitutes the most effective way to prevent genetic diseases, which is a very important link to the development of Community Medical Genetics. Objective: to characterize the effectiveness and state of Genetic Counseling in San Juan y Martinez, Pinar del Rio province during 2003-2009. Material and method: a retrospective, descriptive and cross sectional study was carried out. Through a non-probabilistic sampling 50 families were chosen. An interview was applied assessing different variables: effectiveness of genetic counseling, satisfaction with the services and the ethical aspects of the genetic counseling among others. Results: some improvements were observed in the last period concerning the coverage of genetic programs, where a high percentage of those polled considered the effectiveness of genetic counseling as good and showed satisfaction. Conclusions: the characterization of genetic counseling is very important to diagnose and prevent genetic diseases and congenital defects in San Juan y Martinez municipality.

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