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1.
Public Health ; 225: 12-21, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37918172

RESUMO

BACKGROUND: Adequate and effective emergency preparedness for hospital surge capacity is a prerequisite to ensuring standard healthcare services for disaster victims. This study aimed to identify, review, and synthesize the preparedness activities for and the barriers to hospital surge capacity in disasters and emergencies. METHODS: We systematically searched seven databases (PubMed, MEDLINE, CINAHL, Scopus, Embase, Ovid, and PsycINFO). We included all English peer-reviewed studies published in January 2016 and July 2022 on surge capacity preparedness in hospital settings. Two independent researchers screened titles and abstracts, reviewed the full texts, and conducted data extractions using CADIMA software. We assessed the rigor of the included studies using the NIH quality assessment tools for quantitative studies, the Noyes et al. guidelines for qualitative studies, and the MMAT tool for mixed methods studies and summarized findings using the narrative synthesis method. We also used PRISMA reporting guidelines. RESULTS: From the 2560 studies identified, we finally include 13 peer-reviewed studies: 10 quantitative, one qualitative, and two mixed methods. Five studies were done in the USA, three in Iran (n = 3), and the remaining in Australia, Pakistan, Sweden, Taiwan, and Tanzania. The study identified various ways to increase hospital surge capacity preparedness in all four domains (staff, stuff, space, and system); among them, the use of the Hospital Medical Surge Preparedness Index and the Surge Simulation Tool for surge planning was noteworthy. Moreover, nine studies (69%) recognized several barriers to hospital surge capacity preparedness. CONCLUSION: The review provides synthesized evidence of contemporary literature on strategies for and barriers to hospital surge capacity preparedness. Despite the risk of selection bias due to the omission of gray literature, the study findings could help hospital authorities, public health workers, and policymakers to develop effective plans and programs for improving hospital surge capacity preparedness with actions, such as enhancing coordination, new or adapted flows of patients, disaster planning implementation, or the development of specific tools for surge capacity. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42022360332.


Assuntos
Planejamento em Desastres , Desastres , Humanos , Capacidade de Resposta ante Emergências , Emergências , Hospitais
2.
bioRxiv ; 2023 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-37398101

RESUMO

Retinoic acid receptor (RAR) signaling is essential for mammalian kidney development, but in the adult kidney is restricted to occasional collecting duct epithelial cells. We now show there is widespread reactivation of RAR signaling in proximal tubular epithelial cells (PTECs) in human sepsis-associated acute kidney injury (AKI), and in mouse models of AKI. Genetic inhibition of RAR signaling in PTECs protects against experimental AKI but is associated with increased expression of the PTEC injury marker, Kim-1. However, Kim-1 is also expressed by de-differentiated, proliferating PTECs, and protects against injury by increasing apoptotic cell clearance, or efferocytosis. We show that the protective effect of inhibiting PTEC RAR signaling is mediated by increased Kim-1 dependent efferocytosis, and that this is associated with de-differentiation, proliferation, and metabolic reprogramming of PTECs. These data demonstrate a novel functional role that reactivation of RAR signaling plays in regulating PTEC differentiation and function in human and experimental AKI.

3.
Rev. Soc. Esp. Dolor ; 29(supl.1): 32-42, Nov. 2022. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-211671

RESUMO

El dolor visceral crónico es muy frecuente e incapacitante. El dolor visceral secundario crónico debe distinguirse de los estados de dolor visceral primario crónico, que se consideran enfermedades por derecho propio. El dolor visceral crónico primario es una categoría del dolor de tipo nociplástico, que se caracteriza por una nocicepción alterada sin evidencia clara de daño tisular real o potencial. El manejo del dolor visceral crónico primario es un desafío, ya sea por falta de eficacia farmacológica o por intolerancia de los efectos secundarios. En este contexto, el tratamiento con cannabinoides puede ser una alternativa útil en estos pacientes. En esta revisión, tras explicar brevemente los mecanismos fisiopatológicos implicados en el dolor visceral crónico y su relación con el sistema endocannabinoide, revisaremos la evidencia actual sobre la utilización de cannabinoides en el tratamiento del dolor crónico visceral.(AU)


Chronic visceral pain is very common and disabling. Chronic secondary visceral pain must be distinguished from chronic primary visceral pain states that are considered diseases in their own right. Primary chronic visceral pain is a category of nociplastic-like pain, characterized by impaired nociception without clear evidence of actual or potential tissue damage. Management of primary chronic visceral pain is challenging, either due to lack of pharmacological efficacy or intolerance to side effects. In this context, treatment with cannabinoids can be a useful alternative in these patients. In this review, after briefly explaining the pathophysiological mechanisms involved in chronic visceral pain and its relationship with the endocannabinoid system, we will show the current evidence on the use of cannabinoids in the treatment of chronic visceral pain.(AU)


Assuntos
Humanos , Maconha Medicinal , Cannabis , Dor Crônica , Dor Visceral/tratamento farmacológico , Dor , Manejo da Dor , Espanha
4.
Rev Fish Biol Fish ; 32(3): 963-974, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35370370

RESUMO

About a third of all marine fish in the world are caught in Small-Scale Fisheries (SSF). SSF are increasingly recognised as essential for food security and livelihoods for vulnerable and economically fragile communities globally. Although individual SSF vessels are usually perceived as having little impact on the ecosystem, the cumulative impact of gear type and number of vessels may be substantial. Bottom trawling is a common fishing method that can greatly influence the marine ecosystem by damaging the seafloor and generating high levels of discards. However, appropriate sampling coverage using on-board observer programmes to collect these data from SSF are rare, as they are expensive and pose logistical constraints. A mobile App was used to assess whether self-reporting by fishers could provide reliable fine-scale information on fishing effort and discards over time in an illegal shrimp trawling fishery in northern Peru. Maps depicting the spatial distribution of trawling effort and the proportion of discards from observers and fishers were compared using the Similarity in Means (SIM) Index, which ranges from 0 when spatial patterns differ completely to 1 when spatial patterns are very similar. High levels of agreement between spatio-temporal patterns of effort (SIM Index = 0.81) and discards (0.96) were found between fisher and observer maps. Moreover, far greater spatial coverage was accomplished by fishers, suggesting that self-reporting via an App represents a useful approach to collect reliable fisheries data as an initial step for effective monitoring and management of these fisheries. Supplementary Information: The online version contains supplementary material available at 10.1007/s11160-022-09708-9.

5.
Acta Clin Belg ; 77(1): 118-121, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32543299

RESUMO

BACKGROUND: Weiss-Kruszka syndrome (WSKA) is a rare disorder caused by mutations in the ZNF462 gene or deletion of 9p31.2 chromosome region, involving ZNF462. The prevalence of WSKA is unknown as only 24 affected individuals have been described. This syndrome should be suspected in individuals presenting mild global developmental delay and common craniofacial abnormalities. CASE PRESENTATION: We presented a case of an infant, 3 years and 4-month life who presented pondostatural and psychomotor retardation, generalized hypotonia with hypermobility, bilateral palpebral ptosis, epicanthal folds, and poorly expressive facies as the main clinical features. These characteristics lead to the realization of genetics studies that resulted in the identification of a novel mutation c.3306dup; p.(Gln1103Thrfs*10) in ZNF462. CONCLUSIONS: WSKA should be suspected in individuals presenting mild global developmental delay, ptosis, downslanting palpebral fissures, exaggerated Cupid's Bow, arched eyebrows, epicanthal folds and short upturned nose with a bulbous tip. Hypertrophy of the ventricular septum and severe OSA were described in our patient and should be considered in future reviews of the disease. This case is added to the reduced number of publications previously reported regarding WSKA and contributes to understanding the genetic characteristics, clinical features, and diagnosis of this syndrome.Abbreviations: WSKA: Weiss-Kruszka syndrome; CP: craniofacial perimeter; WES: whole-exome sequencing; RSV: respiratory syncytial virus; OSA: obstructive sleep apnoea; ACMG: American College of Medical Genetics and Genomics.


Assuntos
Anormalidades Craniofaciais , Proteínas de Ligação a DNA/genética , Fácies , Humanos , Lactente , Hipotonia Muscular , Mutação , Proteínas do Tecido Nervoso/genética , Síndrome , Fatores de Transcrição/genética
6.
Proc Natl Acad Sci U S A ; 118(43)2021 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-34686605

RESUMO

Self-amplifying RNA replicons are promising platforms for vaccine generation. Their defects in one or more essential functions for viral replication, particle assembly, or dissemination make them highly safe as vaccines. We previously showed that the deletion of the envelope (E) gene from the Middle East respiratory syndrome coronavirus (MERS-CoV) produces a replication-competent propagation-defective RNA replicon (MERS-CoV-ΔE). Evaluation of this replicon in mice expressing human dipeptidyl peptidase 4, the virus receptor, showed that the single deletion of the E gene generated an attenuated mutant. The combined deletion of the E gene with accessory open reading frames (ORFs) 3, 4a, 4b, and 5 resulted in a highly attenuated propagation-defective RNA replicon (MERS-CoV-Δ[3,4a,4b,5,E]). This RNA replicon induced sterilizing immunity in mice after challenge with a lethal dose of a virulent MERS-CoV, as no histopathological damage or infectious virus was detected in the lungs of challenged mice. The four mutants lacking the E gene were genetically stable, did not recombine with the E gene provided in trans during their passage in cell culture, and showed a propagation-defective phenotype in vivo. In addition, immunization with MERS-CoV-Δ[3,4a,4b,5,E] induced significant levels of neutralizing antibodies, indicating that MERS-CoV RNA replicons are highly safe and promising vaccine candidates.


Assuntos
Infecções por Coronavirus/prevenção & controle , Coronavírus da Síndrome Respiratória do Oriente Médio/genética , Coronavírus da Síndrome Respiratória do Oriente Médio/imunologia , RNA Viral/administração & dosagem , Replicon , Vacinas Virais/administração & dosagem , Animais , Anticorpos Neutralizantes/biossíntese , Anticorpos Antivirais/biossíntese , Infecções por Coronavirus/genética , Infecções por Coronavirus/imunologia , Infecções por Coronavirus/virologia , Vírus Defeituosos/genética , Vírus Defeituosos/imunologia , Feminino , Deleção de Genes , Genes env , Humanos , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Coronavírus da Síndrome Respiratória do Oriente Médio/patogenicidade , RNA Viral/genética , RNA Viral/imunologia , Vacinas de DNA , Vacinas de Partículas Semelhantes a Vírus/administração & dosagem , Vacinas de Partículas Semelhantes a Vírus/genética , Vacinas de Partículas Semelhantes a Vírus/imunologia , Vacinas Virais/genética , Vacinas Virais/imunologia , Virulência/genética , Virulência/imunologia
7.
Rev Esp Quimioter ; 34 Suppl 1: 44-45, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34598425

RESUMO

SARS-CoV-2 serology is useful to identify past COVID-19 cases, and it is not useful for acute infection. Levels of specific SARS-CoV-2 anti-N and especially anti-S are expected to be maintained for long periods. At this moment there is not a clear correlate of protection after COVID-19 or vaccination, therefore serological follow up is not indicated in most cases.


Assuntos
COVID-19 , Vacinas , Anticorpos Antivirais , Humanos , SARS-CoV-2 , Vacinação
8.
Rev Chilena Infectol ; 38(2): 197-203, 2021 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-34184710

RESUMO

BACKGROUND: The production of carbapenem-hydrolyzing ß-lactamases is one of the most concerning resistance mechanisms since it eliminates the last therapeutic option against multidrug resistant microorganisms. AIM: To determine the production of KPC and NDM-1 type carbapenemases, using phenotypic and genotypic methods, in isolated enterobacteria in a clinical laboratory in the city of Maracay, Venezuela. METHODS: The production of carbapenemases was determined by phenotypic (according to the Malbrán algorithm) and genotypic methods (amplification of the blaNDM-1 and blaKPC genes by PCR) in clinical isolates of Enterobacteriaceae during the period March-August 2018. RESULTS: 605 Enterobacteriaceae of different species were identified, being Escherichia coli the strain with the highest percentage of isolation (61.3%), followed by Klebsiella pneumoniae (14.9%). Sixteen strains (2.64%) were positive for carbapenemases production: 13 strains of K. pneumoniae and three of the Enterobacter cloacae complex. PCR showed that 14 strains (87.5%) carry the blaNDM-1 gene and two strains (12.5%) the blaKPC gene; 100% agreement was observed between phenotypic determination and PCR for both groups of enzymes. CONCLUSIONS: The results of this study showed a higher incidence of metallo-ß-lactamase type NDM-1, which rapid dissemination and consequently difficult control has been cause of epidemiological alert. The identification of the type of enzyme would allow establishing more accurate management and control strategies in order to eradicate these pathogens.


Assuntos
Infecções por Enterobacteriaceae , Enterobacteriaceae , Antibacterianos , Proteínas de Bactérias/genética , Enterobacteriaceae/genética , Humanos , Klebsiella pneumoniae , Laboratórios , Testes de Sensibilidade Microbiana , Venezuela , beta-Lactamases/genética
10.
Rev. chil. infectol ; 38(2): 197-203, abr. 2021. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1388237

RESUMO

INTRODUCCIÓN: La producción de beta-lactamasas capaces de hidrolizar a los carbapenémicos es uno de los mecanismos de resistencia más preocupantes porque eliminan la última opción terapéutica frente a los microorganismos multi-resistentes. OBJETIVO: Determinar la producción de carbapenemasas tipo KPC y NDM-1, empleando métodos fenotípicos y genotípicos, en enterobacterias aisladas en un laboratorio clínico de la ciudad de Maracay, Venezuela. MÉTODOS: Se determinó la producción de carbapenemasas mediante métodos fenotípicos (según algoritmo de Malbrán) y genotípicos (amplificación de los genes blaNDM-1 y blaKPC por RPC) en enterobacterias aisladas en un laboratorio clínico durante el período marzo-agosto 2018. RESULTADOS: Se identificaron 605 enterobacterias de diferentes especies, siendo Escherichia coli la cepa con mayor porcentaje de aislamiento (61,3%), seguida por Klebsiella pneumoniae (14,9%). Diez y seis enterobacterias (2,64%) fueron positivas para la producción de carbapenemasas: 13 cepas de K. pneumoniae y tres del complejo Enterobacter cloacae. La RPC demostró que 14 cepas (87,5%) contienen el gen blaNDM-1 y dos (12,5%) el gen blaKPC; se observó 100% de concordancia entre la determinación fenotípica y la RPC para ambos grupos de enzimas. CONCLUSIONES: Los resultados mostraron mayor incidencia de la metalo-beta-lactamasa tipo NDM-1, reconocida como una alarma epidemiológica debido a que su rápida diseminación dificulta su control, por lo que la identificación del tipo de enzima permitiría establecer estrategias de manejo y control más certeras con la finalidad de erradicar a dichos patógenos.


BACKGROUND: The production of carbapenem-hydrolyzing beta-lactamases is one of the most concerning resistance mechanisms since it eliminates the last therapeutic option against multidrug resistant microorganisms. AIM: To determine the production of KPC and NDM-1 type carbapenemases, using phenotypic and genotypic methods, in isolated enterobacteria in a clinical laboratory in the city of Maracay, Venezuela. METHODS: The production of carbapenemases was determined by phenotypic (according to the Malbrán algorithm) and genotypic methods (amplification of the blaNDM-1 and blaKPC genes by PCR) in clinical isolates of Enterobacteriaceae during the period March-August 2018. RESULTS: 605 Enterobacteriaceae of different species were identified, being Escherichia coli the strain with the highest percentage of isolation (61.3%), followed by Klebsiella pneumoniae (14.9%). Sixteen strains (2.64%) were positive for carbapenemases production: 13 strains of K. pneumoniae and three of the Enterobacter cloacae complex. PCR showed that 14 strains (87.5%) carry the blaNDM-1 gene and two strains (12.5%) the blaKPC gene; 100% agreement was observed between phenotypic determination and PCR for both groups of enzymes. CONCLUSIONS: The results of this study showed a higher incidence of metallo-beta-lactamase type NDM-1, which rapid dissemination and consequently difficult control has been cause of epidemiological alert. The identification of the type of enzyme would allow establishing more accurate management and control strategies in order to eradicate these pathogens.


Assuntos
Humanos , Enterobacteriaceae/genética , Infecções por Enterobacteriaceae , Fenótipo , Proteínas de Bactérias/genética , Venezuela , beta-Lactamases/genética , Testes de Sensibilidade Microbiana , Genótipo , Klebsiella pneumoniae , Laboratórios , Antibacterianos
11.
Antiviral Res ; 186: 104990, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33249093

RESUMO

The endocytic pathway is a common strategy that several highly pathogenic viruses use to enter into the cell. To demonstrate the usefulness of this pathway as a common target for the development of broad-spectrum antivirals, the inhibitory effect of drug compounds targeting endosomal membrane proteins were investigated. This study entailed direct comparison of drug effectiveness against animal and human pathogenic viruses, namely Ebola (EBOV), African swine fever virus (ASFV), and the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). A panel of experimental and FDA-approved compounds targeting calcium channels and PIKfyve at the endosomal membrane caused potent reductions of entry up to 90% in SARS-CoV-2 S-protein pseudotyped retrovirus. Similar inhibition was observed against transduced EBOV glycoprotein pseudovirus and ASFV. SARS-CoV-2 infection was potently inhibited by selective estrogen receptor modulators in cells transduced with pseudovirus, among them Raloxifen inhibited ASFV with very low 50% inhibitory concentration. Finally, the mechanism of the inhibition caused by the latter in ASFV infection was analyzed. Overall, this work shows that cellular proteins related to the endocytic pathway can constitute suitable cellular targets for broad range antiviral compounds.


Assuntos
Vírus da Febre Suína Africana/efeitos dos fármacos , Antivirais/farmacologia , Ebolavirus/efeitos dos fármacos , Endossomos/efeitos dos fármacos , SARS-CoV-2/efeitos dos fármacos , Internalização do Vírus/efeitos dos fármacos , Vírus da Febre Suína Africana/fisiologia , Animais , Cálcio/metabolismo , Bloqueadores dos Canais de Cálcio/farmacologia , Linhagem Celular , Linhagem Celular Tumoral , Chlorocebus aethiops , Colesterol/metabolismo , Relação Dose-Resposta a Droga , Avaliação Pré-Clínica de Medicamentos , Ebolavirus/fisiologia , Endocitose/efeitos dos fármacos , Endossomos/metabolismo , Humanos , Proteínas de Membrana/antagonistas & inibidores , Proteínas de Membrana/metabolismo , Fosfatidilinositol 3-Quinases/metabolismo , Inibidores de Fosfoinositídeo-3 Quinase/farmacologia , Cloridrato de Raloxifeno/farmacologia , Receptores de Estrogênio/metabolismo , SARS-CoV-2/fisiologia , Moduladores Seletivos de Receptor Estrogênico/farmacologia , Células Vero
12.
Rev Esp Quimioter ; 33(6): 466-484, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33070578

RESUMO

The high transmissibility of SARS-CoV-2 before and shortly after the onset of symptoms suggests that only diagnosing and isolating symptomatic patients may not be sufficient to interrupt the spread of infection; therefore, public health measures such as personal distancing are also necessary. Additionally, it will be important to detect the newly infected individuals who remain asymptomatic, which may account for 50% or more of the cases. Molecular techniques are the "gold standard" for the diagnosis of SARS-CoV-2 infection. However, the massive use of these techniques has generated some problems. On the one hand, the scarcity of resources (analyzers, fungibles and reagents), and on the other the delay in the notification of results. These two facts translate into a lag in the application of isolation measures among cases and contacts, which favors the spread of the infection. Antigen detection tests are also direct diagnostic methods, with the advantage of obtaining the result in a few minutes and at the very "pointof-care". Furthermore, the simplicity and low cost of these tests allow them to be repeated on successive days in certain clinical settings. The sensitivity of antigen tests is generally lower than that of nucleic acid tests, although their specificity is comparable. Antigenic tests have been shown to be more valid in the days around the onset of symptoms, when the viral load in the nasopharynx is higher. Having a rapid and real-time viral detection assay such as the antigen test has been shown to be more useful to control the spread of the infection than more sensitive tests, but with greater cost and response time, such as in case of molecular tests. The main health institutions such as the WHO, the CDC and the Ministry of Health of the Government of Spain propose the use of antigenic tests in a wide variety of strategies to respond to the pandemic. This document aims to support physicians involved in the care of patients with suspected SC2 infection, in the context of a growing incidence in Spain since September 2020, which already represents the second pandemic wave of COVID-19.


Assuntos
Antígenos Virais/sangue , Teste Sorológico para COVID-19/métodos , COVID-19/diagnóstico , Consenso , Pandemias , SARS-CoV-2/imunologia , Doença Aguda , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Algoritmos , COVID-19/epidemiologia , COVID-19/mortalidade , COVID-19/transmissão , Teste de Ácido Nucleico para COVID-19/normas , Teste Sorológico para COVID-19/normas , Criança , Pré-Escolar , Busca de Comunicante , Emergências , Feminino , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Nasofaringe/virologia , Sensibilidade e Especificidade , Espanha/epidemiologia , Manejo de Espécimes/métodos , Manejo de Espécimes/normas , Adulto Jovem
15.
Rev Neurol ; 69(7): 289-292, 2019 Oct 01.
Artigo em Espanhol | MEDLINE | ID: mdl-31559627

RESUMO

INTRODUCTION: Intracranial calcifications can have a number of different causes, and the distribution and characteristics they present in neuroimaging can orient the specialist towards one or another. It is important to rule out the most frequent entities that are accompanied by intracranial calcifications, but other more remote genetic causes, such as Coats plus syndrome, should not be overlooked. CASE REPORT: Ex-premature female Infant with a gestational age of 34 weeks, diagnosed with retinopathy at 9 months after presenting strabismus. At 2 years of age, an MRI scan was performed for right hemiparesis, in which an image suggestive of a neoplasm was initially observed. Upon completion of the study with a cranial computed tomography scan, extensive calcifications were observed predominantly in the basal ganglia along with cystic lesions. After ruling out the most frequent causations of intracranial calcifications, the association between the retinopathy and the neurological features was established, and Coats plus syndrome was confirmed by a genetic study that revealed the presence of two hitherto unreported variants in heterozygosis in the CTC1 gene. CONCLUSION: Coats plus syndrome is an extraordinarily rare autosomal recessive disease, caused by mutations in the CTC1 gene, which involves the appearance of retinal telangiectasias, brain cysts, calcifications in deep nuclei and leukoencephalopathy, as well as other bone and gastrointestinal conditions. Treatment is symptomatic and the disease has a poor prognosis.


TITLE: Lactante con calcificaciones intracraneales y retinopatia.Introduccion. Las calcificaciones intracraneales pueden tener multiples etiologias, y la distribucion y las caracteristicas que presenten en la neuroimagen pueden orientar hacia unas u otras. Es importante descartar las entidades mas frecuentes que cursan con calcificaciones intracraneales, pero no deben olvidarse otras causas geneticas mucho mas remotas, como el sindrome de Coats plus. Caso clinico. Lactante exprematura de 34 semanas de edad gestacional, diagnosticada de retinopatia a los 9 meses al presentar estrabismo. A los 2 años de edad se realizo una resonancia magnetica por hemiparesia derecha, en la que se observo una imagen sugestiva inicialmente de neoplasia. Al completar el estudio con una tomografia computarizada craneal, se observaron extensas calcificaciones de predominio en los ganglios basales y lesiones quisticas. Tras descartarse las etiologias mas frecuentes de calcificaciones intracraneales, se llego a la asociacion de la retinopatia y la clinica neurologica y se confirmo el sindrome de Coats plus mediante estudio genetico, que revelo la presencia de dos variantes en heterocigosis no documentadas hasta la fecha en el gen CTC1. Conclusion. El sindrome de Coats plus es una enfermedad autosomica recesiva extraordinariamente infrecuente, provocada por mutaciones en el gen CTC1, que supone la aparicion de telangiectasias retinianas, quistes cerebrales, calcificaciones en los nucleos profundos y leucoencefalopatia, ademas de otras afecciones oseas y gastrointestinales. El tratamiento es sintomatico y la enfermedad tiene un mal pronostico.


Assuntos
Ataxia/genética , Neoplasias Encefálicas/genética , Calcinose/genética , Cistos do Sistema Nervoso Central/genética , Leucoencefalopatias/genética , Espasticidade Muscular/genética , Doenças Retinianas/genética , Convulsões/genética , Ataxia/diagnóstico por imagem , Gânglios da Base/diagnóstico por imagem , Gânglios da Base/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Calcinose/patologia , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/patologia , Pré-Escolar , Diagnóstico Diferencial , Feminino , Heterozigoto , Humanos , Leucoencefalopatias/diagnóstico por imagem , Imageamento por Ressonância Magnética , Espasticidade Muscular/diagnóstico por imagem , Mutação de Sentido Incorreto , Paresia/etiologia , Doenças Retinianas/diagnóstico por imagem , Vasos Retinianos/patologia , Convulsões/diagnóstico por imagem , Proteínas de Ligação a Telômeros/genética , Tomografia Computadorizada por Raios X , Substância Branca/diagnóstico por imagem , Substância Branca/patologia
16.
Analyst ; 144(4): 1115-1127, 2019 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-30702730

RESUMO

Fourier transform infrared (FTIR) spectra of biological cells can reveal clinically important information about cells' composition, including their normal or cancerous status. The recently emerged diagnostic technique of spectral cytopathology (SCP) combines FTIR with multivariate statistical analysis to detect cell abnormalities, differentiate between cell types, and monitor disease progression. We demonstrate a new variant of SCP, a metasurface-enhanced infrared reflection spectroscopic cytopathology (MEIRSC) that utilises judiciously designed plasmonic metasurfaces to localize and enhance the evanescent field near the cell's membrane, and to carry out spectroscopic interrogations of the cells attached to the metasurface using reflected infrared light. Our findings indicate that the MEIRSC approach enables us to differentiate between normal and cancerous human colon cells. The sensitivity of MEIRSC is such that a very small (about 50 nm deep) portion of the cell can yield valuable diagnostic information.


Assuntos
Colo/citologia , Colo/patologia , Neoplasias do Colo/patologia , Espectrofotometria Infravermelho/métodos , Linhagem Celular Tumoral , Humanos , Microscopia , Análise de Componente Principal
17.
J Asthma ; 56(3): 296-302, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-29617210

RESUMO

RATIONALE: Prenatal omega-3 fatty acids improve alveolarization, diminish inflammation, and improve pulmonary growth, but it is unclear whether these outcomes translate into improved postnatal lung function. OBJECTIVE: We assessed the effect of prenatal supplementation with docosahexaenoic acid (DHA) on offspring lung function through 60 months of age. METHODS: We included a cohort of 772 Mexican preschoolers whose mothers participated in a clinical trial (NCT00646360) of supplementation with DHA or a placebo from week 18-22 of gestation through delivery. MEASUREMENTS: The children were followed after birth and anthropometric measurements and forced oscillation tests were performed at 36, 48, and 60 months of age. The effect of DHA was tested using a longitudinal mixed effect models. RESULTS: Overall, mean (Standard Deviation) of the measurements of respiratory system resistance and respiratory system reactance at 6, 8, and 10 Hz during follow up period were 11.3 (2.4), 11.1 (2.4), 10.3 (2.2) and -5.2 (1.6), -4.8 (1.7), -4.6 (1.6), respectively. There were no significant differences in pulmonary function by treatment group. DHA did not affect the average lung function or the trajectories through 60 months. CONCLUSIONS: Prenatal DHA supplementation did not influence pulmonary function in this cohort of Mexican preschoolers.


Assuntos
Suplementos Nutricionais , Ácidos Docosa-Hexaenoicos/administração & dosagem , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Testes de Função Respiratória , Adolescente , Adulto , Pesos e Medidas Corporais , Desenvolvimento Infantil , Pré-Escolar , Ácidos Graxos Ômega-3/administração & dosagem , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , México/epidemiologia , Gravidez , Adulto Jovem
19.
Clin. transl. oncol. (Print) ; 20(10): 1289-1301, oct. 2018. tab, graf
Artigo em Inglês | IBECS | ID: ibc-173717

RESUMO

Background: Lymphoma is the third most common malignancy in children (0-14 years) and the first in adolescents (15-19 years). This population-based study-the largest ever done in Spain-analyses incidence and survival of lymphomas among Spanish children and adolescents. Patients and methods 1664 lymphoma cases (1983-2007) for incidence and 1030 for survival (1991-2005) followed until 31/12/2010, were provided by 11 cancer registries. Age-adjusted incidence rates (ASRw) to the world standard population were obtained; incidence trends were modelled using the Joinpoint programme, observed survival (OS) was estimated with Kaplan-Meier and trends tested with a log-rank test. Results are presented according to the International Classification of Childhood Cancer-3. Results: In Spain, the ASRw0-14 for lymphomas was 17.5 per 1.000.000 child-years and 50.0 the specific rate for adolescents. Overall incidence increased significantly during 1983-1997 with no increases thereafter. Patients over 9 years old showed significant rising trends for all subtypes, except for Burkitt lymphoma (BL) in adolescents. During 2001-2005 (age 0-19 years), 5-year OS was 94 (90-98), 73 (64-83) and 86 (78-94) for Hodgkin lymphoma (HL), non-Hodgkin lymphoma (NHL) and BL, respectively. No improvement in survival was found. The incidence in Spain was higher than overall European rates, but within the range of that in Southern Europe. Comparing OS in Spain 1991-1995 and 2001-2005 with results for Europe of the Automated Childhood Cancer Information System (ACCIS) (1988-1997) and the European cancer registry-based study on survival and care of cancer patients (EUROCARE) (2000-2007), it was similar for HL and lower for NHL and BL. Conclusions: Systematic monitoring and analysis of lymphoma paediatric data would provide clinical and epidemiological information to improve the health care of these patients and the outcomes for these malignancies in Spain


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Assuntos
Humanos , Criança , Adolescente , Linfoma/epidemiologia , Transtornos Linfoproliferativos/patologia , Estudos de Coortes , Taxa de Sobrevida , Espanha/epidemiologia , Registros de Doenças/estatística & dados numéricos
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