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1.
J Clin Exp Dent ; 16(3): e387-e390, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38600938

ABSTRACT

Venous malformations (VMs) are aberrant venous vessel angiogenesis present at birth. However, they can become apparent later in life, debuting in early childhood. This poses a clinical quest for surgeons, dentists, and pediatricians, as they might appear as a compressible mass in the head and neck region, not uncommonly mistaking them for odontogenic abscesses or other soft tissue tumors. The differential diagnosis can be challenging and imaging techniques are often needed. Ultrasounds are extremely useful initially as other diagnostic tools can be potentially harmful in the context of a VM. MRI is key as it provides accurate extension and location information, and allows to plan invasive treatment alternatives if the patient requires it. In this article, we present the case of a 6-year-old girl who was treated by mistake for an infection upon the diagnosis of an incipient odontogenic abscess instead of a venous malformation, and a literature review on VMs. Key words:Venous malformation, odontogenic abscess, differential diagnosis.

2.
A A Pract ; 18(4): e01779, 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38578005

ABSTRACT

Madelung's disease is characterized by the presence of multiple symmetric and nonencapsulated facial, neck, and upper trunk lipomas. Depending on the location and size of lipomas, there may be concerns for difficult airway management and cardiovascular collapse. We present the anesthetic management case of a patient with cervical and mediastinal lipomas who underwent elective cervical lipoma resection.


Subject(s)
Anesthetics , Lipoma , Lipomatosis, Multiple Symmetrical , Mediastinal Neoplasms , Humans , Lipomatosis, Multiple Symmetrical/surgery , Lipoma/surgery , Neck/surgery
3.
Nat Methods ; 21(5): 793-797, 2024 May.
Article in English | MEDLINE | ID: mdl-38509328

ABSTRACT

SQANTI3 is a tool designed for the quality control, curation and annotation of long-read transcript models obtained with third-generation sequencing technologies. Leveraging its annotation framework, SQANTI3 calculates quality descriptors of transcript models, junctions and transcript ends. With this information, potential artifacts can be identified and replaced with reliable sequences. Furthermore, the integrated functional annotation feature enables subsequent functional iso-transcriptomics analyses.


Subject(s)
Molecular Sequence Annotation , Transcriptome , Humans , Molecular Sequence Annotation/methods , Software , Gene Expression Profiling/methods , Sequence Analysis, RNA/methods , Protein Isoforms/genetics , High-Throughput Nucleotide Sequencing/methods
4.
Genome Biol ; 24(1): 286, 2023 Dec 11.
Article in English | MEDLINE | ID: mdl-38082294

ABSTRACT

Long-read RNA sequencing has emerged as a powerful tool for transcript discovery, even in well-annotated organisms. However, assessing the accuracy of different methods in identifying annotated and novel transcripts remains a challenge. Here, we present SQANTI-SIM, a versatile tool that wraps around popular long-read simulators to allow precise management of transcript novelty based on the structural categories defined by SQANTI3. By selectively excluding specific transcripts from the reference dataset, SQANTI-SIM effectively emulates scenarios involving unannotated transcripts. Furthermore, the tool provides customizable features and supports the simulation of additional types of data, representing the first multi-omics simulation tool for the lrRNA-seq field.


Subject(s)
Benchmarking , Transcriptome , Sequence Analysis, RNA , Base Sequence , Computer Simulation , High-Throughput Nucleotide Sequencing , Gene Expression Profiling
5.
bioRxiv ; 2023 Aug 24.
Article in English | MEDLINE | ID: mdl-37662216

ABSTRACT

Long-read RNA-seq has emerged as a powerful tool for transcript discovery, even in well-annotated organisms. However, assessing the accuracy of different methods in identifying annotated and novel transcripts remains a challenge. Here, we present SQANTI-SIM, a versatile utility that wraps around popular long-read simulators to allow precise management of transcript novelty based on the structural categories defined by SQANTI3. By selectively excluding specific transcripts from the reference dataset, SQANTI-SIM effectively emulates scenarios involving unannotated transcripts. Furthermore, the tool provides customizable features and supports the simulation of additional types of data, representing the first multi-omics simulation tool for the lrRNA-seq field. We demonstrate the effectiveness of SQANTI-SIM by benchmarking five transcriptome reconstruction pipelines using the simulated data.

6.
bioRxiv ; 2023 Jun 03.
Article in English | MEDLINE | ID: mdl-37398077

ABSTRACT

The emergence of long-read RNA sequencing (lrRNA-seq) has provided an unprecedented opportunity to analyze transcriptomes at isoform resolution. However, the technology is not free from biases, and transcript models inferred from these data require quality control and curation. In this study, we introduce SQANTI3, a tool specifically designed to perform quality analysis on transcriptomes constructed using lrRNA-seq data. SQANTI3 provides an extensive naming framework to describe transcript model diversity in comparison to the reference transcriptome. Additionally, the tool incorporates a wide range of metrics to characterize various structural properties of transcript models, such as transcription start and end sites, splice junctions, and other structural features. These metrics can be utilized to filter out potential artifacts. Moreover, SQANTI3 includes a Rescue module that prevents the loss of known genes and transcripts exhibiting evidence of expression but displaying low-quality features. Lastly, SQANTI3 incorporates IsoAnnotLite, which enables functional annotation at the isoform level and facilitates functional iso-transcriptomics analyses. We demonstrate the versatility of SQANTI3 in analyzing different data types, isoform reconstruction pipelines, and sequencing platforms, and how it provides novel biological insights into isoform biology. The SQANTI3 software is available at https://github.com/ConesaLab/SQANTI3 .

7.
Front Neurosci ; 17: 1208882, 2023.
Article in English | MEDLINE | ID: mdl-37483357

ABSTRACT

We show that classical hue cancellation experiments lead to human-like opponent curves even if the task is done by trivial (identity) artificial networks. Specifically, human-like opponent spectral sensitivities always emerge in artificial networks as long as (i) the retina converts the input radiation into any tristimulus-like representation, and (ii) the post-retinal network solves the standard hue cancellation task, e.g. the network looks for the weights of the cancelling lights so that every monochromatic stimulus plus the weighted cancelling lights match a grey reference in the (arbitrary) color representation used by the network. In fact, the specific cancellation lights (and not the network architecture) are key to obtain human-like curves: results show that the classical choice of the lights is the one that leads to the best (more human-like) result, and any other choices lead to progressively different spectral sensitivities. We show this in two ways: through artificial psychophysics using a range of networks with different architectures and a range of cancellation lights, and through a change-of-basis theoretical analogy of the experiments. This suggests that the opponent curves of the classical experiment are just a by-product of the front-end photoreceptors and of a very specific experimental choice but they do not inform about the downstream color representation. In fact, the architecture of the post-retinal network (signal recombination or internal color space) seems irrelevant for the emergence of the curves in the classical experiment. This result in artificial networks questions the conventional interpretation of the classical result in humans by Jameson and Hurvich.

8.
Molecules ; 28(10)2023 May 12.
Article in English | MEDLINE | ID: mdl-37241794

ABSTRACT

Fungal volatile organic compounds (VOCs) are responsible for fungal odor and play a key role in biological processes and ecological interactions. VOCs represent a promising area of research to find natural metabolites for human exploitation. Pochonia chlamydosporia is a chitosan-resistant nematophagous fungus used in agriculture to control plant pathogens and widely studied in combination with chitosan. The effect of chitosan on the production of VOCs from P. chlamydosporia was analyzed using gas chromatography-mass spectrometry (GC-MS). Several growth stages in rice culture medium and different times of exposure to chitosan in modified Czapek-Dox broth cultures were analyzed. GC-MS analysis resulted in the tentative identification of 25 VOCs in the rice experiment and 19 VOCs in the Czapek-Dox broth cultures. The presence of chitosan in at least one of the experimental conditions resulted in the de novo production of 3-methylbutanoic acid and methyl 2,4-dimethylhexanoate, and oct-1-en-3-ol and tetradec-1-ene in the rice and Czapek-Dox experiments, respectively. Other VOCs changed their abundance because of the effect of chitosan and fungal age. Our findings suggest that chitosan can be used as a modulator of the production of VOCs in P. chlamydosporia and that there is also an effect of fungal age and exposure time.


Subject(s)
Chitosan , Hypocreales , Volatile Organic Compounds , Humans , Chitosan/pharmacology , Volatile Organic Compounds/pharmacology , Hypocreales/metabolism
12.
Rev. esp. cir. oral maxilofac ; 44(1): 49-52, ene.-mar. 2022. ilus
Article in Spanish | IBECS | ID: ibc-210477

ABSTRACT

La tuberculosis (TB) es una enfermedad granulomatosa crónica que afecta de forma primordial a los pulmones. La afectación de la cavidad oral es rara, lo que hace que sea infradiagnosticada e infratratada. Dicha afectación puede ser primaria o secundaria, siendo más común la afectación secundaria. Exponemos el caso de un varón fumador de 39 años que presenta una lesión ulcerada en mucosa yugal izquierda de 3 semanas de evolución. Se tomó biopsia con resultado de mucosa escamosa con ulceración e intensa inflamación crónica granulomatosa no necrotizante. Además, presentaba una lesión cavitada a nivel pulmonar. Escribimos este artículo con el fin de determinar la importancia de realizar un buen diagnóstico diferencial de las lesiones ulcerativas de la cavidad oral y recalcar el manejo multidisciplinar de esta patología. (AU)


Tuberculosis (TB) is a chronic granulomatous disease which affects the lungs in majority of the cases. Tuberculosis of the oral cavity may be overlooked in the differential diagnosis of oral lesions and can be misdiagnosed and managed incorrectly. Oral manifestations of TB are seen both in primary and secondary stages of the disease but are most commonly associated with secondary TB. A 39-year-old smoker man with an ulcerative oral lesion came to the emergency room. A partial incisional biopsy was performed, with the result of squamous mucosa with ulceration and intense chronic non-necrotizing granulomatous inflammation. In addition, he had a cavitated lesion in the lung. We write this article in order to determine the importance of making a good differential diagnosis of ulcerative lesions of the oral cavity and emphasize the multidisciplinary management of this pathology. (AU)


Subject(s)
Humans , Male , Adult , Tuberculosis, Oral/diagnostic imaging , Tuberculosis, Oral/drug therapy , Smokers , Tomography, X-Ray Computed
15.
Rev. esp. cir. oral maxilofac ; 42(2): 60-68, abr.-jun. 2020. ilus
Article in Spanish | IBECS | ID: ibc-189942

ABSTRACT

El brote epidémico causado por el virus SARS-CoV-2 se encuentra plenamente activo en España. Alrededor del 10-15 % de los pacientes ingresados precisan cuidados en unidades de críticos, siendo intubados de forma prolongada y precisando la realización de traqueotomías. Se realiza un estudio observacional de las traqueotomías realizadas por nuestro Servicio de Cirugía Oral y Maxilofacial a pacientes COVID-19 de unidades de cuidados intensivos realizadas entre el 17 de marzo y el 17 de abril de 2020. El estudio analiza aspectos epidemiológicos y clínicos de los pacientes, el tipo de técnica quirúrgica empleada, el tiempo quirúrgico, el tipo de cánula empleada, las complicaciones postquirúrgicas y el seguimiento clínico de los pacientes. Un total de 22 pacientes fueron sometidos a traquetomía reglada abierta. Fueron dieciocho hombres y cuatro mujeres de edades entre 40 y 77 años (64,9 años de media). En todos los casos la realización de traqueotomía fue como consecuencia del proceso pulmonar por la neumonia bilateral COVID-19. Dos pacientes presentaron un neumotórax en el postoperatorio inmediato como complicación, un paciente falleció durante la realización del procedimiento y otro tras su llegada a la Unidad de Cuidados Intensivos tras la realización de la traqueotomía. A pesar de que la traqueotomía es una técnica quirúrgica reglada, las características especiales de los pacientes COVID-19 hacen de este procedimiento una situación crítica por la inestabilidad pulmonar y la rápida desaturación del paciente. Todo ello obliga a la realización del procedimiento por facultativos con experiencia para disminuir el tiempo quirúrgico y poder enfrentarse a cualquier eventualidad


The outbreak caused by the SARS-CoV-2 virus is currently very active in Spain. Many infected people still require to be hospitalized. Around 10-15 % of hospitalized patients require intensive care, where they are intubated for a prolonged period, needing tracheotomies some weeks after the intubation. We will be conducting an observational study of the tracheotomies performed by our oral and maxillofacial Department to COVID-19 patients on intensive care units between March 17th and April 17th, 2020. This study will be analyzing the patients' epidemiological and clinical aspects, surgical technique employed, surgical time, type of cannula used, postoperative complications and the patients' clinical monitoring. A total of 22 patients underwent open elective tracheotomy. There were twenty-two males and three females aged between 40 and 77 (mean: 64,9 years-old). In all cases tracheotomy was carried out due to pulmonary process caused by COVID-19 bilateral pneumonia. Two patients presented pneumothorax in the immediate postoperatory care as a complication, one perished during the procedure and another did so after arriving to the Intensive Care Unit after the tracheotomy surgery. Even though tracheotomy is a ruled surgical technique, the special characteristics of COVID-19 patients make of this procedure a critical situation, mainly due to lung instability and quick desaturation of the patients. This requires the surgery to be carried out by experienced physicians in order to reduce operative time and to be able to react to any eventualities that may arise


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Coronavirus Infections/surgery , Pneumonia, Viral/surgery , Betacoronavirus , Pandemics , Tracheostomy/instrumentation , Tracheostomy/methods , Hospitals, University , Follow-Up Studies , Critical Illness , Time Factors , Spain
17.
Rev Esp Enferm Dig ; 109(7): 535, 2017 Jul.
Article in English | MEDLINE | ID: mdl-28530107

ABSTRACT

We present the case report of a twenty-five-year-old Moroccan male patient who suffered from leptomeningeal carcinomatosis related to a signet-ring cell carcinoma of the rectum. He presented to the emergency department with abdominal pain, constipation, weight loss and rectal bleeding. The rectal examination showed a rectal tumor and a CT scan revealed a large bowel obstruction due to rectal diffuse thickening. An emergency transverse colostomy was performed, with a rectal biopsy and a cytological sample collection. The pathology analysis showed a signet-ring cell carcinoma from the rectum. The staging evaluation was completed and neoadjuvant chemotherapy and radiotherapy were offered to the patient. Two months later, he developed neurological signs of leptomeningeal involvement which was confirmed by a lumbar puncture. Then, the patient received systemic and intrathecal chemotherapy but later died. This case shows the tendency of colorectal signet-ring cell carcinomas to cause leptomeningeal metastasis, even in young patients.


Subject(s)
Carcinoma, Signet Ring Cell/secondary , Chemotherapy, Adjuvant/methods , Colorectal Neoplasms/pathology , Meningeal Carcinomatosis/secondary , Adult , Carcinoma, Signet Ring Cell/diagnostic imaging , Carcinoma, Signet Ring Cell/drug therapy , Colorectal Neoplasms/diagnostic imaging , Colorectal Neoplasms/drug therapy , Fatal Outcome , Humans , Intestinal Obstruction , Magnetic Resonance Imaging , Male , Meningeal Carcinomatosis/diagnostic imaging , Meningeal Carcinomatosis/drug therapy , Ultrasonography
19.
Rev Esp Enferm Dig ; 108(3): 167-8, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26817508

ABSTRACT

We present three young patients diagnosed with signet ring cell carcinoma of the stomach. All had in common the smoking rather than the injecting route of administration of drugs, such as heroin. In the smoking route, pieces of nickel scourer are mixed with the drug. This heavy metal has known carcinogenic effects. Chronic exposure of the gastric mucosa to nickel, from oropharynx, could be a risk factor for the development of gastric adenocarcinoma in heroin smoking addicts.


Subject(s)
Carcinoma, Signet Ring Cell/etiology , Carcinoma, Signet Ring Cell/pathology , Stomach Neoplasms/etiology , Stomach Neoplasms/pathology , Substance-Related Disorders/complications , Adult , Alcoholism/complications , Carcinoma, Signet Ring Cell/surgery , Cocaine-Related Disorders/complications , Humans , Male , Middle Aged , Smoking/adverse effects , Stomach Neoplasms/surgery
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