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1.
Int J Mol Sci ; 25(15)2024 Jul 27.
Article in English | MEDLINE | ID: mdl-39125769

ABSTRACT

A T-cell-independent (TI) pathway activated by microbiota results in the generation of low-affinity homeostatic IgA with a critical role in intestinal homeostasis. Moderate aerobic exercise (MAE) provides a beneficial impact on intestinal immunity, but the action of MAE on TI-IgA generation under senescence conditions is unknown. This study aimed to determine the effects of long-term MAE on TI-IgA production in young (3 month old) BALB/c mice exercised until adulthood (6 months) or aging (24 months). Lamina propria (LP) from the small intestine was obtained to determine B cell and plasma cell sub-populations by flow cytometry and molecular factors related to class switch recombination [Thymic Stromal Lymphopoietin (TSLP), A Proliferation-Inducing Ligand (APRIL), B Cell Activating Factor (BAFF), inducible nitric oxide synthase (iNOS), and retinal dehydrogenase (RDH)] and the synthesis of IgA [α-chain, interleukin (IL)-6, IL-21, and Growth Factor-ß (TGF-ß)]; and epithelial cells evaluated IgA transitosis [polymeric immunoglobulin receptor (pIgR), tumor necrosis factor-α (TNF-α), interferon-γ (IFN-γ), IL-4] by the RT-qPCR technique. The results were compared with data obtained from sedentary age-matched mice. Statistical analysis was computed with ANOVA, and p < 0.05 was considered to be a statistically significant difference. Under senescence conditions, MAE promoted the B cell and IgA+ B cells and APRIL, which may improve the intestinal response and ameliorate the inflammatory environment associated presumably with the downmodulation of pro-inflammatory mediators involved in the upmodulation of pIgR expression. Data suggested that MAE improved IgA and downmodulate the cytokine pro-inflammatory expression favoring homeostatic conditions in aging.


Subject(s)
Aging , Homeostasis , Immunoglobulin A , Mice, Inbred BALB C , Physical Conditioning, Animal , Animals , Immunoglobulin A/metabolism , Immunoglobulin A/immunology , Mice , Aging/immunology , Cytokines/metabolism , B-Lymphocytes/immunology , B-Lymphocytes/metabolism , B-Cell Activating Factor/metabolism , B-Cell Activating Factor/genetics , Intestinal Mucosa/metabolism , Intestinal Mucosa/immunology , Intestine, Small/immunology , Intestine, Small/metabolism , Male , Plasma Cells/immunology , Plasma Cells/metabolism , Tumor Necrosis Factor Ligand Superfamily Member 13/metabolism , Tumor Necrosis Factor Ligand Superfamily Member 13/genetics
2.
Arq. bras. oftalmol ; Arq. bras. oftalmol;87(3): e2021, 2024. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1520221

ABSTRACT

ABSTRACT Primary graft failure (PGF) is a known complication following penetrating keratoplasty (PKP). The usual approach to treat this complication is to repeat a penetrating keratoplasty. Here, we report a case of Descemet's membrane endothelial keratoplasty (DMEK) for the treatment of PGF after PKP. A patient that underwent PKP, developed PGF with persistent graft edema and very poor visual acuity despite aggressive steroid use and a proof anti-viral treatment. Three months after the initial surgery, a DMEK was performed under the PKP graft. There was progressive early corneal clearing and, by the end of the first month, the patient already had no corneal edema. Uncorrected visual acuity (UCVA) improved to 20/40 and best corrected visual acuity (BCVA) to 20/20. DMEK may be an alternative to a second PKP for the treatment of PGF. This technique is a less invasive option when compared to the standard PKP procedure.


RESUMO A falência primária do enxerto é uma complicação conhecida que pode ocorrer após o transplante penetrante de córnea. O tratamento usual dessa complicação é com um novo transplante penetrante. Apresentamos um caso em que foi usado o transplante endotelial de membrana de Descemet (DMEK - do inglês Descemet membrane endo-thelial keratoplasty) para o tratamento da falência primária após o transplante penetrante. Uma paciente submetida a transplante penetrante evoluiu com falência primária do enxerto a despeito do uso intenso de corticoide tópico e uma prova terapêutica de antivirais. Três meses após a cirurgia inicial, foi optado pela realização do transplante endotelial de membrana de Descemet sob o transplante penetrante. Houve um clareamento precoce e progressivo do enxerto com melhora importante da visão. Após um mês, a visão sem correção era de 20/40 melhorando para 20/20 com refração. O transplante endotelial de membrana de Descemet pode ser uma alternativa a um novo transplante penetrante como tratamento da falência primária.

3.
Acta ortop. bras ; Acta ortop. bras;32(1): e277177, 2024. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1550005

ABSTRACT

ABSTRACT Introduction: Legg-Calvé-Perthes disease (LCPD) is the idiopathic osteonecrosis of the capital femoral epiphysis in children. It is a self-healing condition, and the morphology of the hip may vary according to the severity of the disease, among several other factors. The treatment focuses on attempts to prevent femoral head collapse, obtain functional hip motion recovery, and reduce pain. Osteochondritis Dissecans (OCD) of the femoral head has been reported in 2% to 7% of patients diagnosed with healed LCPD. Although OCD may remain asymptomatic, the osteochondral fragment has the potential to become unstable, evolving into symptoms of pain, locking, catching, and snapping. Case report: We present a case report of a ten-year-old boy with an OCD lesion following LCPD who underwent effective osteochondral fixation through the surgical hip dislocation approach. The patient evolved to excellent functional recovery at 1 year post-operatively. Discussion: The surgical hip dislocation approach allows anatomical fixation of the OCD fragment, as well as improvement of hip biomechanics, decreasing pain, improving range of motion and joint congruency, and preserving the native articular cartilage. It also gives the surgeon the opportunity to assess hip stability, femoroacetabular impingement and labral tears, allowing a wide variety of options for the treatment of the healed LCPD. Level of Evidence IV; Type of study Case Report.


RESUMO Introdução: A Doença de Legg-Calvé-Perthes (DLCP) é a osteonecrose idiopática da epífise femoral proximal em crianças. É uma condição auto resolutiva, porém a morfologia final do quadril pode variar de acordo com a gravidade da doença. O tratamento concentra-se na tentativa de prevenir o colapso da cabeça femoral, obtendo recuperação funcional do movimento do quadril e redução da dor. A osteocondrite dissecante (OCD) da cabeça femoral foi relatada em 2% a 7% dos pacientes diagnosticados com DLCP já curada. Embora a OCD possa permanecer assintomática, o fragmento osteocondral tem potencial para se tornar instável, evoluindo para sintomas de dor, bloqueio, impacto e estalido. Relato de caso: Apresentamos o relato de caso de um menino de 10 anos com OCD da cabeça femoral após DLCP, submetido à fixação osteocondral do fragmento por meio da abordagem cirúrgica de luxação do quadril. O paciente evoluiu com excelente recuperação funcional 1 ano após a cirurgia. Discussão: A abordagem cirúrgica da luxação do quadril permite a fixação anatômica do fragmento da OCD, bem como a melhora da biomecânica do quadril, diminuindo a dor, melhorando a amplitude de movimento e a congruência articular e preservando a cartilagem articular nativa. Também dá ao cirurgião a oportunidade de avaliar a estabilidade do quadril, impacto femoroacetabular e lesões labrais, permitindo uma ampla variedade de opções para o tratamento das sequelas da DLCP. Nível de evidência IV; tipo de estudo Relato de Casos.

4.
Arq. bras. neurocir ; 43(1): 65-68, 2024.
Article in English | LILACS-Express | LILACS | ID: biblio-1571286

ABSTRACT

Introduction One of the major complications of intracranial aneurysm surgery is vasospasm. Papaverine is an effective vasodilator that can be instilled directly onto the vessels in the operative field with the aim of preventing intraoperative and postoperative vasospasm. Several case reports of hemodynamic instability in general and of hypotension, in particular, were reported after the use of topical papaverine during aneurysm clipping surgery. Case description Herein, we report three cases of transient profound hypotension and relative bradycardia after intracisternal papaverine usage during ruptured anterior communicating artery aneurysm clipping surgery. Conclusion Caution should be taken while using papaverine intracisternally during anterior circulation aneurysm clipping, since it may cause several serious complications, including profound hemodynamic instability, particularly when instilling on a fenestrated lamina terminalis.


Introdução Uma das principais complicações da cirurgia de aneurisma intracraniano é o vasoespasmo. A papaverina é um vasodilatador eficaz que pode ser instilado diretamente nos vasos do campo operatório com o objetivo de prevenir o vasoespasmo intra e pós-operatório. Vários relatos de casos de instabilidade hemodinâmica em geral e de hipotensão, em particular, foram relatados após o uso de papaverina tópica durante cirurgia de clipagem de aneurisma. Descrição de caso Aqui, relatamos três casos de hipotensão profunda transitória e bradicardia relativa após o uso de papaverina intracisternal durante a cirurgia de clipagem de aneurisma da artéria comunicante anterior rompida. Conclusão Deve-se ter cuidado ao usar papaverina intracisternamente durante a clipagem do aneurisma da circulação anterior, uma vez que pode causar várias complicações graves, incluindo profunda instabilidade hemodinâmica, particularmente ao instilar em uma lâmina terminal fenestrada.

5.
Front Physiol ; 14: 1308077, 2023.
Article in English | MEDLINE | ID: mdl-38143915

ABSTRACT

Introduction: The transient receptor potential ankyrin 1 channel (TRPA1) is expressed in urothelial cells and bladder nerve endings. Hyperglycemia in diabetic individuals induces accumulation of the highly reactive dicarbonyl compound methylglyoxal (MGO), which modulates TRPA1 activity. Long-term oral intake of MGO causes mouse bladder dysfunction. We hypothesized that TRPA1 takes part in the machinery that leads to MGO-induced bladder dysfunction. Therefore, we evaluated TRPA1 expression in the bladder and the effects of 1 h-intravesical infusion of the selective TRPA1 blocker HC-030031 (1 nmol/min) on MGO-induced cystometric alterations. Methods: Five-week-old female C57BL/6 mice received 0.5% MGO in their drinking water for 12 weeks, whereas control mice received tap water alone. Results: Compared to the control group, the protein levels and immunostaining for the MGO-derived hydroimidazolone isomer MG-H1 was increased in bladders of the MGO group, as observed in urothelium and detrusor smooth muscle. TRPA1 protein expression was significantly higher in bladder tissues of MGO compared to control group with TRPA1 immunostaining both lamina propria and urothelium, but not the detrusor smooth muscle. Void spot assays in conscious mice revealed an overactive bladder phenotype in MGO-treated mice characterized by increased number of voids and reduced volume per void. Filling cystometry in anaesthetized animals revealed an increased voiding frequency, reduced bladder capacity, and reduced voided volume in MGO compared to vehicle group, which were all reversed by HC-030031 infusion. Conclusion: TRPA1 activation is implicated in MGO-induced mouse overactive bladder. TRPA1 blockers may be useful to treat diabetic bladder dysfunction in individuals with high MGO levels.

6.
Metabolites ; 13(7)2023 Jul 12.
Article in English | MEDLINE | ID: mdl-37512550

ABSTRACT

Although the aetiology of inflammatory bowel diseases (IBDs) is still unknown, one of their main characteristics is that the immune system chronically affects the permeability of the intestinal lamina propria, in turn altering the composition of the microbiota. In this study, the TNBS rat model of colitis was used because it contains a complex inflammatory milieu of polymorphonuclear cells (PMN) and lymphocytes infiltrating the lamina propria. The aim of the present study was to investigate six dehydrogenases and their respective adaptations in the tissue microenvironment by quantifying enzymatic activities measured under substrate saturation conditions in epithelial cells and leukocytes from the lamina propria of rats exposed to TNBS. Our results show that in the TNBS group, an increased DAI score was observed due to the presence of haemorrhagic and necrotic areas in the colon. In addition, the activities of G6PDH and GADH enzymes were significantly decreased in the epithelium in contrast to the increased activity of these enzymes and increased lactate mediated by the LDH-A enzyme in leukocytes in the lamina propria of the colon. Over the past years, evidence has emerged illustrating how metabolism supports aspect of cellular function and how a metabolic reprogramming can drive cell differentiation and fate. Our findings show a metabolic reprogramming in colonic lamina propria leukocytes that could be supported by increased superoxide anion.

7.
Rev. argent. neurocir ; 37(2): 65-75, jun. 2023. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1571299

ABSTRACT

Introducción. El espasmo hemifacial (EHF) es una condición infrecuente que se caracteriza por la contracción unilateral, paroxística e involuntaria de los músculos de la cara inervados por el nervio facial, causado en la mayoría de los casos por un conflicto vascular en el trayecto cisternal del nervio. Objetivos. Presentar los resultados de una serie de pacientes a los que se les realizó descompresiva microvascular por EHF. Pacientes y métodos. Desde junio de 2005 a septiembre de 2022, 42 pacientes con EHF fueron operados; se evaluó edad, género, tiempo de evolución, lado de la afección, realización de toxina botulínica, hallazgos intraoperatorios, resultados postquirúrgicos y complicaciones. Técnica quirúrgica. Se utilizó la posición semisentada y un abordaje suboccipital lateral. En la cisterna, se disecó el flóculo para permitir reclinarlo de abajo hacia arriba y exponer el sitio de origen real del nervio facial. Se colocó teflón interpuesto y el uso de cola de fibrina se ajustó según el caso. Resultados. El promedio de edad fue 49,6 años, con 61,9% de mujeres. El lado derecho se vio afectado en 20 casos. El vaso mayoritariamente identificado en la cirugía fue la arteria cerebelosa anteroinferior (20 casos). La respuesta fue total en 37 casos, parcial en 3 casos y nula en 2 casos. Déficits transitorios ocurrieron en 9 casos y permanentes en 2 casos. Conclusión. La mayoría de los pacientes de nuestra serie obtuvieron una mejoría total del espasmo. La descompresiva debe ser considerada como primera línea de tratamiento del EHF primario(AU)


Background. Hemifacial spasm is a rare condition characterized by unilateral, paroxysmal, and involuntary contraction of the facial muscles innervated by the facial nerve, caused in most cases by a vascular conflict in the cisternal course of the nerve. Objectives. To present the results of a series of patients who underwent microvascular decompression by hemifacial spasm. Methods. From June 2005 to September 2022, 42 patients underwent surgery; age, gender, time of evolution, side of the condition, the performance of botulinum toxin, intraoperative findings, post-surgical results, and complications were evaluated. Surgical technique. The semi-sitting position and a retrosigmoid approach were used. In the cistern, arachnoid dissection of the flocculus was performed to allow reclining it from the bottom to up and expose the exit zone of the facial nerve. Teflon felt was interposed, and the use of fibrin glue was adjusted according to the case. Results. The average age was 49.6 years, with 61.9% women. The right side was affected in 20 cases. The vessel most frequently identified in surgery was the anterior inferior cerebellar artery (20 cases). The response was total in 37 cases, partial in 3 cases, and null in 2 cases. Transitory deficits occurred in 9 cases and permanent deficits in 2 cases. Conclusion. Most of the patients in our series obtained a total improvement in the spasm. Decompression should be considered the first line of treatment for primary hemifacial spasms(AU)


Subject(s)
Hemifacial Spasm , Spasm , Flocculus , Decompression , Microvascular Decompression Surgery
8.
Steroids ; 196: 109248, 2023 08.
Article in English | MEDLINE | ID: mdl-37169217

ABSTRACT

Five new brassinosteroid analogues were synthetized from 3ß-acetoxy-23,24-dinorchol-4-en-22-oic acid. All the obtained compound showed significant activity in the Rice Lamina Inclination Test. Interestingly the effects of the methyl ester of 3ß-hydroxy-6-oxo-23,24-dinorcholan-22-oic acid (14) at concentrations of 1 × 10-7 and 1 × 10-6 M proved to be higher than those produced by brassinolide. In silico Molecular Docking and Induced fit docking (IFD) simulations for the compounds with the highest biological activity data were carried out to investigate the binding mode interactions into the brassinolide-binding groove which revealed that the compound 14 had high binding energy values and a good affinity.


Subject(s)
Brassinosteroids , Esters , Brassinosteroids/pharmacology , Molecular Docking Simulation , Nerve Growth Factors
9.
Biomed Rep ; 18(2): 13, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36643694

ABSTRACT

Acetylcholine (ACh), as a ligand of nicotinic acetylcholine receptors (nAChRs), plays a key role in the cholinergic anti-inflammatory pathway; however, its role in the immunoglobulin A (IgA) response remains unknown. Therefore, the present study aimed to investigate the role of ACh in the intestinal biomarkers involved in IgA synthesis and the polymeric immunoglobulin receptor (pIgR) involved in IgA transcytosis. Groups of mice were administered GTS-21 (an α7nAChR agonist) or mecamylamine (a non-selective nAChR antagonist) intraperitoneally for 7 days. Intestinal fluids were used for antibody concentration assessment by ELISA, cell suspensions from Peyer's patches and the lamina propria were obtained for flow cytometric analysis of plasma cells, and CD4+ T-cells expressing intracellular transforming growth factor (TGF)-ß and IgA-producing interleukin (IL)-4, -5, -6 and -10, and isolated epithelial cells to determine the levels of pIgR mRNA using reverse transcription-quantitative PCR. Regarding to the untreated control group, the concentration of IgA was reduced in the mecamylamine group and unaltered in the GTS-21 group while IgM levels exhibited no differences; the percentage of IgA+ plasma cells from Peyer's patches and the lamina propria, and the percentage of TGF-ß+/CD4+ T-cells from Peyer's patches were greater in the GTS-21-group. In both treatment groups, the percentages of IgM+ plasma cells and IL-6+/IL-10+ CD4+ T cells were greater in both compartments; pIgR mRNA expression levels decreased in epithelial cells. The percentage of IL-4 CD4+ T-cells were greater in Peyer's patches and lower in the lamina propria in the mecamylamine group, and the percentage of IL-5 CD4+ T-cells in the lamina propria were decreased in both treatment groups. These findings require further examination to address the impact of cholinergic modulation on IgA-transcytosis via pIgR. The present study may be an experimental reference for clinical trials that address the role of nicotinic system in intestinal dysfunctions as postoperative ileus.

10.
Acta ortop. bras ; Acta ortop. bras;31(6): e268307, 2023. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1527634

ABSTRACT

ABSTRACT Introduction: The genu recurvatum is characterized by a hyperextension deformity of the knee in the sagittal plane. Among its causes are conditions such as arthrogryposis, cerebral palsy, poliomyelitis, sequelae of tibial tuberosity fracture and some syndromes with generalized joint hypermobility. Treatment of this deformity can be challenging and, to date, aggressive methods such as femur or tibial osteotomies are the most used for its correction. Objective: This study aimed to describe a new surgical technique for correcting genu recurvatum. Methods: This is a prospective clinical study of children who underwent posterior hemiepiphysiodesis of the distal femur with transphyseal screws. Results: The approach proved to be safe and useful for genu recurvatum deformities, with femoral or articular apex. Conclusion: This approach shows great potential for correcting genu recurvatum in the developing skeleton, being an excellent alternative to the more aggressive methods currently used to treat this deformity. Level of evidence IV, Case Series.


RESUMO Introdução: O joelho recurvato é caracterizado por uma deformidade em hiperextensão do joelho no plano sagital. Entre suas causas, estão condições como artrogripose, paralisia cerebral, poliomielite, sequelas de fratura da tuberosidade da tíbia e algumas síndromes com hipermobilidade articular generalizada. O tratamento dessa deformidade pode ser desafiador e, até o momento, métodos agressivos como osteotomias do fêmur ou da tíbia são os mais utilizados para sua correção. Objetivo: Descrever uma nova técnica cirúrgica de correção do genu recurvatum. Métodos: Estudo clínico prospectivo de crianças submetidas à hemiepifisiodese posterior do fêmur distal com parafusos transfisários. Resultados: A técnica se mostrou segura e útil para as deformidades em recurvato do joelho, com ápice femoral ou articular. Conclusão: Essa técnica apresenta grande potencial de correção do joelho recurvato no esqueleto imaturo, sendo uma excelente alternativa aos métodos mais agressivos atualmente utilizados para o tratamento dessa deformidade. Nível de Evidência IV, Série de Casos

11.
Arq. bras. oftalmol ; Arq. bras. oftalmol;85(6): 565-571, Nov.-Dec. 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1403449

ABSTRACT

ABSTRACT Purpose: To evaluate the clinical course and management of infectious interface keratitis after Descemet membrane endothelial keratoplasty. Methods: A total of 352 cases that had undergone Descemet membrane endothelial keratoplasty were retrospectively reviewed. Patients with infectious interface keratitis during follow-up were analyzed. The microbiological analyses, time to infection onset, clinical findings, follow-up duration, treatment, and post-treatment corrected distance visual acuity were recorded. Results: IIK was detected in eight eyes of eight cases. Three fungal and three bacterial pathogens were identified in all cases. All patients received medical treatment according to culture sensitivity. Antifungal treatment was initiated in two cases with no growth on culture, with a preliminary diagnosis of fungal interface keratitis. Intrastromal antifungal injections were performed in all patients with fungal infections. The median time to infection onset was 164 days (range: 2-282 days). The postoperative infectious interface keratitis developed in the early period in two cases. The mean follow-up duration was 13.4 ± 6.2 months (range: 6-26 months). Re-Descemet membrane endothelial keratoplasty was performed in two patients (25%) and therapeutic penetrating keratoplasty in four patients (50%) who did not recover with medical treatment. The final corrected distance visual acuity was 20/40 or better in five patients (62.5%). Conclusion: The diagnosis and treatment of infectious interface keratitis following Descemet membrane endothelial keratoplasty are challenging. Early surgical intervention should be preferred in the absence of response to medical treatment. Better graft survival and visual acuity can be achieved with therapeutic penetrating keratoplasty and re-Descemet membrane endothelial keratoplasty in patients with infectious interface keratitis.


RESUMO Objetivo: Avaliar o curso clínico e o manejo da ceratite infecciosa de interface após ceratoplastia endotelial da membrana de Descemet. Métodos: Um total de 352 casos submetidos a ceratoplastia endotelial da membrana de Descemet foram revisados retrospectivamente. Pacientes com ceratite infecciosa de interface foram analisados durante o acompanhamento. As análises microbiológicas, o tempo até o início da infecção, os achados clínicos, a duração do acompanhamento, o tratamento e a acuidade visual para longe corrigida pós-tratamento foram registrados. Resultados: Ceratite infecciosa de interface foi detectada em 8 olhos de 8 casos. Três patógenos fúngicos e três bacterianos foram identificados em todos os casos e receberam tratamento médico de acordo com a sensibilidade da cultura. O tratamento antifúngico foi iniciado em dois casos sem crescimento em cultura, com diagnóstico preliminar de ceratite infecciosa fúngica. Injeções antifúngicas intraestromais foram usadas em todos os casos com infecções fúngicas. O tempo médio para o início da infecção foi de 164 dias (variação: 2-282 dias). A ceratite infecciosa de interface pós-operatória desenvolveu-se no período inicial em dois casos. A duração média do acompanhamento foi de 13,4 ± 6,2 meses (variação: 6-26 meses). A ceratoplastia endotelial de membrana de Descemet foi realizada em dois casos (25%) e ceratoplastia penetrante terapêutica em quatro casos (50%) que não se recuperaram com tratamento médico. A acuidade visual para longe corrigida final foi de 20/40 ou melhor em 5/8 (62,5%) dos pacientes. Conclusões: O diagnóstico e o tratamento da ceratite infecciosa de interface após ceratoplastia endotelial da membrana de Descemet são difíceis. A intervenção cirúrgica precoce deve ser o procedimento preferido se não houver resposta ao tratamento médico. Melhor sobrevida do enxerto e melhor acuidade visual podem ser alcançadas com ceratoplastia penetrante terapêutica e ceratoplastia endotelial da membrana de Descemet em pacientes com ceratite infecciosa de interface

12.
Multimed (Granma) ; 26(5)sept.-oct. 2022.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1440678

ABSTRACT

El Síndrome de Progeria de Hutchinson- Gilford es una enfermedad que se caracteriza por el envejecimiento prematuro en niños, debido a una mutación en el gen de Lámina tipo A involucrado en la mitosis celular. En el presente trabajo, con el objetivo de dar difusión al conocimiento de esta enfermedad, se señalan los procesos involucrados en su desarrollo, así como los avances científicos y el alcance de nuevas ventanas terapéuticas. La revisión se realizó consultando artículos en español e inglés empleando los motores de búsqueda Pubmed y Google Académico. La actualización del personal de salud sobre las enfermedades genéticas congénitas es de vital importancia para mejorar su detección, atención y manejo.


Hutchinson-Gilford Progeria Syndrome is a disease characterized by premature aging in children, due to a mutation in the Lamina type A, gene involved in cellular mitosis. In the present work, with the aim of spreading the knowledge of this disease, the processes involved in its development, the scientific advances, and the scope of new therapeutic treatments were summarized. The review was carried out by consulting articles in Spanish and English using the Pubmed and Google Academic search engines. The updating of health personnel on congenital genetic diseases is of vital importance to improve their detection, care and management.


A Síndrome de Hutchinson-Gilford Progeria é uma doença caracterizada pelo envelhecimento prematuro em crianças, devido a uma mutação no gene lamina tipo A envolvido na mitose celular. No presente trabalho, como objetivo de divulgar o conhecimento desta doença, são indicados os processos envolvidos no seu desenvolvimento, bem como os avanços científicos e o âmbito de novas janelas terapêuticas. A análise foi realizada através da consulta de artigos em espanhol e inglês utilizando os motores de busca pubmed e Google Scholar. A atualização do pessoal de saúde sobre doenças genéticas congénitas é de importância vital para melhorar a sua deteção, cuidados e gestão.

13.
Rev. mex. anestesiol ; 45(2): 92-100, abr.-jun. 2022. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1395023

ABSTRACT

Resumen: Introducción: La utilización de dispositivos de barrera adicional para la intubación endotraqueal constituye un reto para la práctica médica durante la actual pandemia. Se pueden utilizar múltiples herramientas para intubación del paciente minimizando la exposición del operador sin afectar la seguridad del procedimiento. El médico debe evaluar y comprender adecuadamente cualquier estrategia adicional, ya que podría interferir con la intubación, aumentando el tiempo de manipulación. Objetivo: Comparar preferencia de los anestesiólogos entre dos dispositivos de barrera, uno diseñado con base en una lámina plástica versus caja de acrílico. Material y métodos: Incluimos 102 pacientes intervenidos de cirugías electivas y de urgencias que aceptaron participar en este estudio prospectivo, transversal y comparativo de manera voluntaria con previo consentimiento informado. Resultados: La lámina de plástico permite un menor tiempo de intubación, menos intentos de laringoscopía y disminuye dificultades de abordaje, además genera un grado de satisfacción mayor en el personal en comparación con dispositivos rígidos como la caja de acrílico. Conclusiones: Es posible obtener buenos resultados para instrumentar la vía aérea cuando se utilizan dispositivos de barrera adicional en personal entrenado. No obstante, teniendo en cuenta los hallazgos de este trabajo existen ventajas con el uso de lámina de plástico.


Abstract: Introduction: The use of additional barrier devices for endotracheal intubation constitutes a challenge for medical practice during the current pandemic. Multiple tools can be used for patient intubation minimizing operator exposure without compromising procedural safety. Any additional strategy must be properly evaluated and understood by the physician as it could interfere with intubation, increasing handling time. Objective: To compare anesthesiologists' preference between two barrier devices, one designed based on a plastic sheet vs an acrylic box. Material and methods: We included 102 patients who underwent elective and emergency surgeries who voluntarily agreed to participate in this prospective, cross-sectional and comparative study with prior informed consent. Results: The plastic sheet allows a shorter intubation time, fewer laryngoscopy attempts and reduces approach difficulties, in addition it generates a higher degree of satisfaction in the personnel compared to rigid devices such as the acrylic box. Conclusions: It is possible to obtain good results to instrument the airway when additional barrier devices are used in trained personnel. However, taking into account the findings of this work, there are advantages with the use of plastic sheeting.

14.
Rev. otorrinolaringol. cir. cabeza cuello ; 82(2): 179-183, jun. 2022. ilus
Article in Spanish | LILACS | ID: biblio-1389852

ABSTRACT

Resumen La patología del sistema nervioso central, habitualmente, no provoca síntomas auditivos unilaterales, ya que la vía auditiva central está formada por una red de conexiones cruzadas entre los diferentes núcleos que la forman. Además, hay que considerar que una lesión pequeña puede extenderse a más de una estructura provocando varios déficits neurológicos debido a la proximidad de los tractos y núcleos nerviosos. Las lesiones unilaterales circunscritas en el colículo inferior son infrecuentes. No obstante, se han descrito casos en los que lesiones unilaterales de diversas etiologías en esta localización causaban síntomas auditivos. Ya que la vía auditiva central es cruzada, síntomas auditivos detectados con más frecuencia afectaban concretamente a la capacidad de localización del sonido o la comprensión verbal. Presentamos el caso de un hombre de 44 años con acúfeno unilateral derecho de larga evolución, sin otra clínica asociada quien fue diagnosticado de un tumor en el colículo inferior derecho mediante resonancia magnética cerebral. Se exponen los hallazgos clínicos y radiológicos del caso.


Abstract Central nervous system diseases usually do not cause auditory symptoms because the central auditory pathway consists on a network of crossed connections between the different nuclei that form it. In addition, we must consider that a small lesion might extend to more than one structure producing many neurologic symptoms due to the proximity of tracts and nuclei in the midbrain. Unilateral circumscribed lesions at inferior colliculus are rare. Nevertheless, lesions at this location causing auditory symptoms have been described. Because of the crossed central auditory pathway, the most commonly detected auditory symptoms specifically affected the ability to locate sound or verbal comprehension. We present the case of a 44-year-old man with a long-term monoaural right-sided tinnitus without other complaints who was diagnosed of a tumour at right inferior colliculus by neuroimaging. Clinical and radiological findings of this case are discussed.


Subject(s)
Humans , Male , Adult , Tinnitus/complications , Inferior Colliculi/pathology , Magnetic Resonance Spectroscopy , Central Nervous System Diseases , Neoplasms
15.
Biochem Soc Trans ; 50(2): 1035-1044, 2022 04 29.
Article in English | MEDLINE | ID: mdl-35437578

ABSTRACT

Lamins are components of the nuclear lamina, a protein meshwork that underlies the nuclear membrane. Lamins interact with chromatin in transcriptionally silent regions defined as lamina-associated-domains (LADs). However, recent studies have shown that lamins regulate active transcription inside LADs. In addition, ChIP-seq analysis has shown that lamins interact with lamin-dependent promoters and enhancers located in the interior of the nucleus. Moreover, functional studies suggest that lamins regulate transcription at associated-promoters and long-range chromatin interactions of key developmental gene programs. This review will discuss emerging, non-canonical functions of lamins in controlling non-silent genes located both inside and outside of LADs, focusing on transcriptional regulation and chromatin organization in Drosophila and mammals as metazoan model organisms.


Subject(s)
Chromatin , Nuclear Lamina , Animals , Cell Nucleus/metabolism , Chromatin/metabolism , Lamins/genetics , Lamins/metabolism , Mammals/genetics , Nuclear Envelope/metabolism , Nuclear Lamina/metabolism
16.
Biomedicines ; 10(2)2022 Feb 18.
Article in English | MEDLINE | ID: mdl-35203688

ABSTRACT

The myotendinous junction (MTJ) is an interface that different stimuli alter their morphology. One of the main stimuli to promote alterations in the MTJ morphology is physical exercise. The present study aimed to investigate the morphology and molecular MTJ adaptations of biceps brachii muscle in adult Wistar rats submitted to different ladder-based protocols. Forty Wistar rats (90 days old) were divided into four groups: Sedentary (S), Climbing (C), Overload Climbing (OC), Climbing, and Overload Climbing (COC). The results of light microscopy demonstrated the cell and collagen tissue reorganization in the experimental groups. The sarcomeres lengths of different regions showed a particular development according to the specific protocols. The sarcoplasmic invaginations and evaginations demonstrated positive increases that promoted the myotendinous interface development. In the extracellular matrix, the structures presented an increase principally in the COC group. Finally, the immunofluorescence analysis showed the telocytes disposition adjacent to the MTJ region in all experimental groups, revealing their network organization. Thus, we concluded that the different protocols contributed to the morphological adaptations with beneficial effects in distinct ways of tissue and cellular development and can be used as a model for MTJ remodeling to future proteomic and genetic analysis.

17.
J Fish Biol ; 100(3): 831-834, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34882797

ABSTRACT

The lamprey genus Exomegas Gill, 1883, was erected on the assumption that it was distinguishable from Geotria Gray, 1851, by possessing three rather than two cusps on the transverse lingual lamina (TLL). Based on literature review and examination of holotypes and new data, the authors reaffirm that the TLL of Geotria possesses two or three cusps in the adult stage. The reduction or disappearance of the middle cusp at the beginning or during the spawning run constitutes a key feature of Geotria. The resurrection of Exomegas by Firpo Lacoste, Fernández and Scioscia, Journal of Fish Biology, 2021, 1-6, 1507-1512, is therefore unjustified and not supported.


Subject(s)
Gills , Lampreys , Animals , Fishes
18.
Surv Ophthalmol ; 67(1): 197-216, 2022.
Article in English | MEDLINE | ID: mdl-33548238

ABSTRACT

Glaucoma is a chronic and progressive optic neuropathy characterized by the death of retinal ganglion cells and corresponding visual field loss. Despite the growing number of studies on the subject, the pathogenesis of the disease remains unclear. Notwithstanding, several studies have shown that the lamina cribrosa (LC) is considered an anatomic site of glaucomatous optic nerve injury, thus having a key role in the pathophysiology of glaucoma development and progression. Different morphological alterations of the LC have been described in vivo in glaucomatous eyes after the evolution of optical coherence tomography (OCT) devices. The most relevant findings were the reduction of laminar thickness, the presence of localized defects, and the posterior LC displacement. These new laminar parameters documented through OCT are not only promising as possible additional tools for glaucoma diagnosis and monitoring, but also as predictors of disease progression. In spite of the advance of technology, however, proper evaluation of the LC is not yet viable in all eyes. We describe OCT-identified LC changes related to the development and progression of glaucoma and provide future directions based on a critical data analysis, focusing on its clinical relevance and applicability.


Subject(s)
Glaucoma , Optic Disk , Optic Nerve Diseases , Glaucoma/diagnosis , Glaucoma/pathology , Humans , Intraocular Pressure , Optic Nerve Diseases/diagnosis , Retinal Ganglion Cells/pathology , Tomography, Optical Coherence/methods
19.
Acta ortop. bras ; Acta ortop. bras;30(6): e249113, 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1419956

ABSTRACT

ABSTRACT Objective: To investigate the efficiency and rates of correction by hemiepiphysiodesis using 8-plate to manage genu valgum deformity in children with skeletal dysplasia. Methods: Eleven children with skeletal dysplasia (three female, eight male; mean age = 10.5 years; age range = 7-13) who underwent temporary hemiepiphysiodesis using 8-plates for genu valgum deformity were retrospectively reviewed. There were nine bilateral cases and two unilateral cases. The mean follow-up time from the index surgery to the final follow-up was 45 (ranging from 24 to 72) months. Radiographical assessment including preoperative and final follow-up measurements of joint orientation angles and mechanical axis deviation (MAD) were conducted. Results: Deformities were completely corrected in nine lower extremities (45%) and partially corrected in seven extremities (35%). In four extremities of two children with Morquio syndrome, MAD worsened. The correction rate of MAD was 1.25 ± 1.62 mm/mo. Conclusion: Though hemiepiphysiodesis using 8-plate requires a longer treatment period, it seems to be an effective treatment for correction of genu valgum in children with skeletal dysplasia. Level of Evidence IV, Case Series.


RESUMO Objetivo: Investigar a eficiência e as taxas de correção da hemiepifisiodese usando placa-8 no tratamento da deformidade de geno valgo em crianças com displasia esquelética. Métodos: Foram avaliadas retrospectivamente 11 crianças com displasia esquelética (três meninas e oito meninos; idade média = 10,5 anos; faixa etária = 7-13) que foram submetidas à hemiepifisiodese temporária com placa-8 devido à deformidade do geno valgo. Havia nove casos bilaterais e dois casos unilaterais. O acompanhamento médio desde a cirurgia de implante até o acompanhamento final foi de 45 (variação de 24 a 72) meses. Foi feita avaliação radiográfica incluindo medidas de acompanhamento pré e pós-operatórias dos ângulos de orientação da articulação e desvio mecânico do eixo (MAD). Resultados: As deformidades foram completamente corrigidas em nove extremidades inferiores (45%) e parcialmente corrigidas em sete (35%). Em quatro extremidades de duas crianças com síndrome de Morquio, o MAD piorou. A taxa de correção do MAD foi de 1,25 ± 1,62 mm/mês. Conclusão: Embora a hemiepifisiodese com placa-8 necessite de um período de tratamento mais longo, a técnica parece ser um tratamento eficaz para a correção do geno valgo em crianças com displasia esquelética. Nível de Evidência IV, Série de Casos.

20.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1439266

ABSTRACT

Introducción: La distrofia corneal endotelial de Fuchs se trata de un trastorno degenerativo específico, bilateral y progresivo del endotelio corneal, es la más frecuente pero no siempre es diagnosticada en sus etapas iniciales en las consultas de oftalmología general. Objetivo: Describir el comportamiento clínico de pacientes con distrofia corneal endotelial de Fuchs en la provincia Camagüey. Métodos: Se realizó un estudio observacional, descriptivo, transversal en el Centro Oftalmológico del Hospital Universitario Manuel Ascunce Domenech en la provincia Camagüey desde noviembre 2019 hasta junio 2021. El universo de estudio estuvo constituido por todos los pacientes que asistieron durante el periodo de estudio y la muestra la conformaron 19 pacientes (38 ojos) quienes cumplieron con los criterios de inclusión y exclusión. Las variables estudiadas fueron edad, sexo, color de la piel, agudeza visual con corrección, asociación con glaucoma, paquimetría, biomicroscopía del segmento anterior, microscopía endotelial, microscopía confocal, estadio de la enfermedad y tipo de tratamiento aplicado. Resultados: Predominaron los pacientes entre 40 y 59 años de edad, el sexo femenino y color blanco de la piel. Sobresalió la visión útil, los valores de paquimetría altos y asociados al glaucoma. Se constató la presencia de guttas, edema corneal, bajo conteo celular con polimorfismo y polimegatismo. El estadio 2 estuvo en 47,4 % y el tratamiento médico se aplicó en el 97,4 %. Conclusiones: La distrofia aparece con más frecuencia después de los 40 años de edad, en sexo femenino y color blanco de piel. Predominó la visión útil, valores altos de paquimetrías y asociación con glaucoma. En la biomicroscopía del segmento anterior predominaron las guttas y el edema estromal y la microscopía endotelial y confocal se caracterizaron en su mayoría por el bajo conteo celular, las guttas, polimorfismo y polimegatismo. Prevaleció el estadio 2 y el tratamiento médico.


Introduction: Fuchs endothelial corneal dystrophy is a specific, bilateral and progressive degenerative disorder of the corneal endothelium, it is the most frequent but it is not always diagnosed in its initial stages in general ophthalmology consultations. Objective: To describe the clinical behavior of patients with Fuchs endothelial corneal dystrophy in Camagüey province. Methods: A cross-sectional descriptive observational study was carried out at the Ophthalmological Center of the Manuel Ascunce Domenech University Hospital in Camagüey in the period from November 2019 to June 2021. The study universe consisted of all the patients who attended during the study period and the sample was made up of 19 patients (38 eyes) who met the inclusion and exclusion criteria. The variables studied were age, sex, skin color, corrected visual acuity, association with glaucoma, pachymetry, anterior segment biomicroscopy, endothelial microscopy, confocal microscopy, disease stage, and type of treatment applied. Results: Patients between 40 and 59 years of age, female sex, and white skin color predominated. Useful vision stood out, high pachymetry values and associated with glaucoma, the presence of guttas, corneal edema, low cell count with polymorphism, and polymegatism was confirmed. Stage 2 was 47.4% and medical treatment was applied in 97.4%. Conclusions: Dystrophy appears more frequently after 40 years of age, in females and white skin persons. Useful vision, high pachymetry values, and association with glaucoma prevailed. In the biomicroscopy of the anterior segment, guttas and stromal edema predominated, and endothelial and confocal microscopy were mostly characterized by low cell count, guttas, polymorphism, and polymegatism. Stage 2 and medical treatment prevailed.

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