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1.
Indian J Ophthalmol ; 72(7): 945-955, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38905460

RESUMO

The medical condition referred to as "central retinal artery occlusion" (CRAO) was first documented by Albrecht von Graefe in 1859. Subsequently, CRAO has consistently been identified as a serious medical condition that leads to substantial visual impairment. Furthermore, it is correlated with vascular complications that have the potential to affect crucial organs such as the brain and heart. A considerable amount of research has been extensively published on the various aspects of this topic, which is marked by notable debates and misconceptions, especially regarding its management and outcomes. The primary aim of this review article is to analyze the latest developments in the understanding of CRAO, which includes its causes, techniques for retinal imaging, systemic evaluation, and therapeutic strategies, such as vitrectomy. This review article offers readers a comprehensive learning experience to gain knowledge on the fundamental principles and recent advancements in CRAO.


Assuntos
Oclusão da Artéria Retiniana , Humanos , Oclusão da Artéria Retiniana/diagnóstico , Angiofluoresceinografia/métodos , Tomografia de Coerência Óptica/métodos , Acuidade Visual/fisiologia , Fundo de Olho , Vitrectomia/métodos , Fatores de Risco
2.
BMC Ophthalmol ; 24(1): 224, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38807066

RESUMO

BACKGROUND: Macular retinoschisis (MRS) and myopic macular neovascularization (mMNV) are both potentially blinding complications of high myopia. In this case report, we highlight the progression of MRS after intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment for mMNV, as well as an extensive review of the literature on this topic. CASE DESCRIPTION: A 49-year-old woman presented with two weeks of recent onset blurring and metamorphopsia in her right eye. She had high myopia in both eyes (right eye - 20/60 with - 16D, left eye - 20/20 with - 13D). Slit-lamp ophthalmoscopy found a normal anterior segment in both eyes. On fundus examination, features of pathological myopia with posterior staphyloma and peripapillary atrophy were observed in both eyes. An active mMNV, as well as intraretinal fluid, minimal perifoveal inner and outer MRS, and focal posterior vitreous traction along the inferotemporal retinal arcade, were detected on optical coherence tomography (OCT) of the right eye. The patient received an intravitreal injection of Aflibercept (2 mg/0.05 ml). RESULTS: OCT scans at two- and four-month follow-up visits revealed regressed mMNV with a taut epiretinal membrane, progressive worsening of outer MRS, and the development of multiple perifoveal retinal detachment inferior to the fovea. Pars plana vitrectomy surgery was performed for the progressive MRS with good anatomical (resolved MRS) and functional outcome (maintained visual acuity at 20/60) at the last one-month post-surgery visit. CONCLUSION: Intravitreal anti-VEGF injections for mMNV can cause vitreoretinal interface changes, exacerbating MRS and causing visual deterioration. Vitrectomy for MRS could be one of several treatment options.


Assuntos
Injeções Intravítreas , Miopia Degenerativa , Receptores de Fatores de Crescimento do Endotélio Vascular , Proteínas Recombinantes de Fusão , Retinosquise , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Receptores de Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidores , Receptores de Fatores de Crescimento do Endotélio Vascular/administração & dosagem , Feminino , Pessoa de Meia-Idade , Retinosquise/diagnóstico , Proteínas Recombinantes de Fusão/administração & dosagem , Proteínas Recombinantes de Fusão/efeitos adversos , Miopia Degenerativa/complicações , Inibidores da Angiogênese/efeitos adversos , Inibidores da Angiogênese/administração & dosagem , Progressão da Doença , Neovascularização Retiniana/tratamento farmacológico , Neovascularização Retiniana/diagnóstico , Neovascularização Retiniana/induzido quimicamente , Angiofluoresceinografia
3.
BMC Ophthalmol ; 24(1): 137, 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38532407

RESUMO

BACKGROUND: Purtscher or Purtscher-like retinopathy is diagnosed by retinal hemorrhages and areas of retinal whitening on fundus examination, as well as a reduction in visual acuity due to microvascular occlusion of the precapillary retinal arterioles. We describe novel optical coherence tomography (OCT) findings of internal limiting membrane (ILM) separation and posterior hyperreflective dots in a case of Purtscher-like retinopathy in this report. METHODS: A 33-year-old man with acute pancreatitis and alcohol-induced liver disease presented to the retina department complaining of four days of painless vision loss in both eyes. Both eyes' anterior segment examination and intraocular pressure were normal. Dilated fundus examination of both eyes revealed confluent areas of retinal whitening, hemorrhages, and cotton-wool spots over the posterior pole, indicating Purtscher-like retinopathy. OCT scans through the macula revealed dense inner retinal reflectivity, thickening, and loss of retinal layer stratification, as well as outer retinal layer shadowing and islands of ILM separation, posterior vitreous hyperreflective dots, and minimal subfoveal fluid, all of which corresponded to areas of retinal whitening on fundus photographs. The patient was given a brief course of systemic steroids. RESULTS: On the tenth day after the presentation, visual acuity in the right eye had improved to 6/18 and finger counting at 1 m in the left eye. The retinal findings had faded. The retina had reverted to its normal thickness on the OCT scans, with minimal hyperreflectivity remaining. The ILM separation and posterior vitreous hyperreflective dots were no longer present. CONCLUSION: Following Purtscher or Purtscher-like retinopathy, we believe inflammation could play a major role in the development of these two novel OCT findings. This case offers an additional perspective on the underlying mechanisms responsible for the retinal manifestations observed in Purtscher or Purtscher-like retinopathy.


Assuntos
Pancreatite , Doenças Retinianas , Masculino , Humanos , Adulto , Tomografia de Coerência Óptica/métodos , Doença Aguda , Angiofluoresceinografia/métodos , Doenças Retinianas/diagnóstico , Retina
4.
Int J Retina Vitreous ; 10(1): 22, 2024 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-38419083

RESUMO

PURPOSE: To study the role of artificial intelligence (AI) in developing diabetic macular edema (DME) management recommendations by creating and comparing responses to clinicians in hypothetical AI-generated case scenarios. The study also examined whether its joint recommendations followed national DME management guidelines. METHODS: The AI hypothetically generated 50 ocular case scenarios from 25 patients using keywords like age, gender, type, duration and control of diabetes, visual acuity, lens status, retinopathy stage, coexisting ocular and systemic co-morbidities, and DME-related retinal imaging findings. For DME and ocular co-morbidity management, we calculated inter-rater agreements (kappa analysis) separately for clinician responses, AI-platforms, and the "majority clinician response" (the maximum number of identical clinician responses) and "majority AI-platform" (the maximum number of identical AI responses). Treatment recommendations for various situations were compared to the Indian national guidelines. RESULTS: For DME management, clinicians (ĸ=0.6), AI platforms (ĸ=0.58), and the 'majority clinician response' and 'majority AI response' (ĸ=0.69) had moderate to substantial inter-rate agreement. The study showed fair to substantial agreement for ocular co-morbidity management between clinicians (ĸ=0.8), AI platforms (ĸ=0.36), and the 'majority clinician response' and 'majority AI response' (ĸ=0.49). Many of the current study's recommendations and national clinical guidelines agreed and disagreed. When treating center-involving DME with very good visual acuity, lattice degeneration, renal disease, anaemia, and a recent history of cardiovascular disease, there were clear disagreements. CONCLUSION: For the first time, this study recommends DME management using large language model-based generative AI. The study's findings could guide in revising the global DME management guidelines.

5.
Eur J Ophthalmol ; 34(3): NP111-NP115, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38295324

RESUMO

PURPOSE: To describe the findings of Multicolour® imaging (MCI) in the presence of residual emulsified silicone oil (SiO) droplets. CASE REPORT: A 62-year-old man had previously undergone surgery for a traumatic retinal detachment in the left eye, followed by SiO removal a few years ago. His presenting visual acuity was 6/60 in the left eye and intraocular pressure was 12 mm Hg. Clinical examination revealed the presence of emulsified residual SiO droplets in the vitreous cavity, 'inverse hyperoleon' at the posterior pole and pathological myopia. Retinal findings were documented using optical coherence tomography (OCT), fundus autofluorescence (FAF), and MCI on the Spectralis (Heidelberg, Germany) machine. RESULTS: On OCT, the emulsified SiO droplets in the preretinal and intraretinal layers appeared as multiple hyperreflective dots with no underlying shadowing trapped beneath the residual posterior hyaloid or preretinal membrane in the region of the posterior staphyloma. Residual emulsified silicon oil on the retinal surface appeared to have greenish hue on the composite multicolour image and was hyperreflective on individual blue and green reflectance images and dark and hyporeflective on the infrared reflectance image. The SiO droplets appeared dark and were difficult to identify on the short wavelength FAF image. CONCLUSION: To the best of our knowledge, this case report describes the MCI findings in emulsified SiO droplets for the first time.


Assuntos
Emulsões , Tamponamento Interno , Angiofluoresceinografia , Descolamento Retiniano , Óleos de Silicone , Tomografia de Coerência Óptica , Acuidade Visual , Vitrectomia , Humanos , Óleos de Silicone/efeitos adversos , Masculino , Pessoa de Meia-Idade , Descolamento Retiniano/cirurgia , Descolamento Retiniano/diagnóstico , Angiofluoresceinografia/métodos , Tamponamento Interno/efeitos adversos , Corpo Vítreo/diagnóstico por imagem , Corpo Vítreo/patologia , Retina/diagnóstico por imagem
6.
Int J Retina Vitreous ; 10(1): 11, 2024 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-38268046

RESUMO

PURPOSE: To study the role of artificial intelligence (AI) to identify key risk factors for diabetic retinopathy (DR) screening and develop recommendations based on clinician and large language model (LLM) based AI platform opinions for newly detected diabetes mellitus (DM) cases. METHODS: Five clinicians and three AI applications were given 20 AI-generated hypothetical case scenarios to assess DR screening timing. We calculated inter-rater agreements between clinicians, AI-platforms, and the "majority clinician response" (defined as the maximum number of identical responses provided by the clinicians) and "majority AI-platform" (defined as the maximum number of identical responses among the 3 distinct AI). Scoring was used to identify risk factors of different severity. Three, two, and one points were given to risk factors requiring screening immediately, within a year, and within five years, respectively. After calculating a cumulative screening score, categories were assigned. RESULTS: Clinicians, AI platforms, and the "majority clinician response" and "majority AI response" had fair inter-rater reliability (k value: 0.21-0.40). Uncontrolled DM and systemic co-morbidities required immediate screening, while family history of DM and a co-existing pregnancy required screening within a year. The absence of these risk factors required screening within 5 years of DM diagnosis. Screening scores in this study were between 0 and 10. Cases with screening scores of 0-2 needed screening within 5 years, 3-5 within 1 year, and 6-12 immediately. CONCLUSION: Based on the findings of this study, AI could play a critical role in DR screening of newly diagnosed DM patients by developing a novel DR screening score. Future studies would be required to validate the DR screening score before it could be used as a reference in real-life clinical situations. CLINICAL TRIAL REGISTRATION: Not applicable.

7.
Eur J Ophthalmol ; : 11206721231220333, 2023 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-38087415

RESUMO

PURPOSE: To describe a typical case of acute central retinal artery occlusion (CRAO) with an ink-blot pattern of hyperfluorescent leak on fundus fluorescein angiography (FFA). CASE DESCRIPTION: A 21-year-old woman came to the clinic with one day of painless right eye vision loss. Her right eye had finger counting at ½ meter. Her right eye had a relative afferent pupillary defect, but her anterior segment and intraocular pressure of both eyes were normal. RESULTS: The right eye fundus showed signs of acute CRAO with severe grade on optical coherence tomography (OCT). FFA imaging showed a mid-phase hyperfluorescent leak that persisted until the late stage. OCT scan through the hyperfluorescent spot showed absence of neurosensory detachment with normal retinal pigment epithelium, ruling out a central serous chorioretinopathy (CSCR). Ocular massage and anterior chamber paracentesis were performed. At the 10-day follow-up, the patient's visual acuity was counting fingers at ½ meter, and the OCT scan showed findings of CRAO chronicity. The hyperfluorescent spot disappeared on the subsequent FFA. CONCLUSION: We report a case of ink-blot leakage on FFA, similar to that observed in CSCR in an eye with acute CRAO. We propose that the hyperfluorescent spot in our acute CRAO was likely caused by red blood cell aggregation or rouleaux formation.

8.
J Appl Gerontol ; : 7334648231216005, 2023 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-38029726

RESUMO

The study aimed to comprehensively review and assess evidence-based outcomes of the Greenhouse model. We systematically reviewed, assessed, and reported on relevant literature using the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines for the scoping review. We identified qualitative or quantitative studies that met our inclusion criteria from PubMed, Medline, CINAHL, and EBSCOhost. The review yielded 41,515 articles published between January 2015 and December 2022; eleven articles met the inclusion criteria and were included in the analysis. The emerging themes were organizational culture, clinical outcomes, and business effects. The Greenhouse model offers a favorable organizational culture with opportunities to enhance clinical and business outcomes. The scoping review was registered in Prospero: CRD42023389048.

9.
BMC Ophthalmol ; 23(1): 437, 2023 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-37891492

RESUMO

BACKGROUND: Demarcation line in a rhegmatogenous retinal detachment (RD) is a classic finding noted in chronic cases. In this case report, we describe a case of evolution of post-operative demarcation line after pneumatic retinopexy (PnR) in a subtotal rhegmatogenous RD. CASE DESCRIPTION: A 31-year-old male diagnosed with acute, subtotal, macula-off rhegmatogenous RD in the left eye of 15-day duration underwent PnR on the same day. His presenting visual acuity was 6/48 in the left eye. Transconjunctival cryopexy was performed to the retinal break at the same sitting and 0.5 cc of 100% perfluoroproprane (C3F8) gas was injected in the vitreous cavity and right lateral position was advised to the patient. RESULT: A pigmentary demarcation line was noted extending the nasal part of the macula along the most dependent part of the detachment on the immediate post-operative day and was more obviously visible on the 2nd and then on the 11th post-operative day. The visual acuity at the last follow-up visit improved to 6/18. Successful reattachment of the retina was noted on the last follow-up visit. CONCLUSION: Post-operative demarcation lines after RD surgery could develop due to subretinal migration of pigments and along the most-dependent part depending upon post-operative positioning of the patient. Careful post-operative positioning, particularly in macula splitting RDs could be important to avoid pigment accumulation along the foveal area.


Assuntos
Descolamento Retiniano , Perfurações Retinianas , Masculino , Humanos , Adulto , Retina , Procedimentos Cirúrgicos Oftalmológicos , Descolamento Retiniano/diagnóstico , Corpo Vítreo , Perfurações Retinianas/cirurgia , Estudos Retrospectivos , Vitrectomia/efeitos adversos
10.
Int J Retina Vitreous ; 9(1): 61, 2023 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-37784202

RESUMO

PURPOSE: To report eplerenone use by retina specialists worldwide for central serous chorioretinopathy (CSCR). METHODS: A self-reporting questionnaire was distributed to retina specialists worldwide to gather clinicians' perspectives on CSCR cases treated, eplerenone dosage and duration, reasons to use it, and side effects. RESULTS: The survey included 241 retina specialists (122 Indian and 119 international) with an average experience of 15.69 ± 9.59 years. Oral eplerenone was used to treat CSCR by 149 (62%) participants. Only 6% (n = 9) had easy access to verteporfin dye and photodynamic therapy. 30 (20%) of the 149 respondents changed their treatment with eplerenone after VICI trial results. Eplerenone was prescribed mostly for chronic CSCR (n = 86, 58%), regardless of involvement laterality. 62% (n = 92) had fewer than 25% CSCR cases treated with eplerenone. 85 (57%) respondents used eplerenone only when other treatments failed, while 36 (24%) used it as first-line treatment. 73 (49%) respondents, prescribed eplerenone at a 50 mg daily dose and 137 (92%) retina specialists used eplerenone for 0-3 months. The drug's efficacy dissatisfied 21 (14%) study participants. 124 (83%) study participants did not encounter any ocular or systemic side effects with eplerenone use. Eplerenone related kidney and electrolyte issues were noted by 11 (7%) study participants. CONCLUSION: The treatment of CSCR varies around the world and is primarily influenced by the photodynamic therapy availability and the findings of VICI trial. Despite the limited benefit of eplerenone reported by the VICI trial, it is still used as evidenced by real-world experience. TRIAL REGISTRATION NUMBER: Not applicable.

11.
Int J Retina Vitreous ; 9(1): 54, 2023 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-37679852

RESUMO

PURPOSE: To report contributory factors and clinical outcomes of central posterior hyaloid fibrosis (CPHF) associated with neovascular age-related macular degeneration (nAMD). METHODS: In this retrospective, single-center study, patients with CPHF and nAMD were included. Demographic and imaging characteristics, as well as the anatomical and functional outcomes, of these patients were analysed. RESULTS: We identified 530 eyes in 273 patients with chronic predominantly scarred macular neovascularisation (MNV), and 32 eyes in 29 patients revealed CPHF, representing a prevalence of 6%. Patients had a mean age of 72.76 years. Before and during the development of CPHF, Type 2 MNV was observed in all eyes. At the time of MNV diagnosis, mean logMAR visual acuity was 1.308 ± 0.559 (20/407). The average time to develop CPHF was 27.3 months since the diagnosis of MNV. At the time of CPHF identification, the mean logMAR visual acuity was 1.498 ± 0.374 (20/630). RPE tear was observed in 6% (n = 2) of CPHF eyes. The average number of intravitreal anti-VEGF injections administered prior to the diagnosis of CPHF was 2.4 and after the onset of CPHF was 0.9. The final visual acuity was not significantly different at the final follow-up visit [1.304 ± 0.42 (20/402); p = 0.646]. CONCLUSION: Rarely observed in eyes with predominantly scarred subfoveal type 2 MNVs and extensive subretinal fibrosis, CPHF is associated with poor visual outcomes. Its presence could possibly suggest a profibrotic effect of MNV on the posterior hyaloid. TRIAL REGISTRATION NUMBER: Not applicable.

12.
Int J Retina Vitreous ; 9(1): 40, 2023 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-37408021

RESUMO

PURPOSE: To describe the development and outcome of mid-phase pinpoint hyperfluorescent spots (MPHS) on fundus fluorescein angiography (FFA) in acute (< 7-day symptom onset) central retinal artery occlusion (CRAO) patients. METHODS: This retrospective study included acute CRAO patients who underwent multimodal imaging utilizing optical coherence tomography (OCT) and FFA between June 2017 and January 2023. The correlation of FFA images with the OCT images in various stages and severity of CRAO were studied. RESULTS: Twenty-three FFA studies on 23 patients with acute CRAO were included. In 11 (48%) cases, an important finding noted on FFA was the presence of single or multiple MPHS with adjacent minimal late vascular leakage. Of these 11 cases, eight (73%) were males and median age was 41 years (inter quartile range: 33-55 years). Visual acuity ranged from 'light perception' to 6/18, and these patients presented anytime on the same day to seven days after symptom onset. On OCT, three eyes had severe CRAO, seven eyes had moderate CRAO, and one eye had mild CRAO. MPHS were primarily observed at the posterior pole and more frequently observed in moderate CRAO severity. During follow-up, the MPHS and retinal vessel staining on FFA disappeared as the CRAO showed signs of resolution. CONCLUSION: MPHS at the posterior pole on FFA in acute CRAO patients could indicate a more severe occlusion and poor visual outcomes, even after treatment. This finding is most likely caused by red blood cell aggregation or rouleaux formation. TRIAL REGISTRATION NUMBER: Not applicable.

13.
BMJ Case Rep ; 16(4)2023 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-37185312

RESUMO

A man in his early 20s presented with acute loss of vision in his only eye, the left eye (OS), and was on oral steroids. He had lost vision in his right eye during his childhood and the cause was unknown. There was no history of trauma. Best-corrected visual acuity (BCVA) in OS was 20/100 and in the right eye was hand movements. OS showed non-granulomatous keratic precipitates on the cornea, anterior chamber flare 1+ and cell 1+, early cataract, vitreous haze and cells 2+ with nasal retinal detachment and superior full thickness retinitis. He underwent pars plana vitrectomy with intravitreal ganciclovir and barrage laser away from the necrotic retina. PCR for herpes simplex virus 2 was positive from the aqueous and vitreous sample. He was started on oral valacyclovir 1 g three times a day and continued on tapering dose of oral steroids. BCVA in OS at 6-month follow-up was 20/25.


Assuntos
Descolamento Retiniano , Síndrome de Necrose Retiniana Aguda , Masculino , Humanos , Criança , Herpesvirus Humano 2 , Seguimentos , Descolamento Retiniano/etiologia , Descolamento Retiniano/cirurgia , Retina , Vitrectomia
14.
Indian J Ophthalmol ; 70(5): 1722-1726, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35502060

RESUMO

Purpose: This study aimed to compare the conventional eye patch with Occlu-tab-a binocular open-type amblyopia training device-and evaluate their effectiveness in amblyopia treatment. Methods: In this prospective, multi-center study, 40 patients between ages 3 to 12 years, diagnosed with anisometropic amblyopia (refraction difference of both eyes ≥ 2 D, best-corrected visual acuity [BCVA] of the amblyopic eye ≤ 0.1 [logMAR]) were treated with Occlu-tab or conventional eye patch for 1 h per day thrice a week. We compared the visual acuity of both groups before and after 6, 7, and 8 weeks of amblyopia treatment. One-way repeated-measures analysis of variance and Tukey's test were used to compare the visual acuity of both groups pre- and post-treatment. Results: Both groups had significantly improved visual acuity at 6, 7, and 8 weeks compared to that before treatment (all P < 0.001). The improvement in BCVA of the Occlu-tab group (0.33 ± 0.25) was significantly greater than that of the eye patch group (0.16 ± 0.17) after 8 weeks of treatment (P = 0.02). Conclusion: Amblyopia treatment using binocular open game training with Occlu-tab led to greater improvement in visual acuity than that with a conventional eye patch for the same treatment duration.


Assuntos
Ambliopia , Ambliopia/terapia , Criança , Pré-Escolar , Duração da Terapia , Humanos , Estudos Prospectivos , Refração Ocular , Acuidade Visual
15.
Expert Rev Mol Diagn ; 20(5): 533-541, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32151178

RESUMO

Introduction: Tuberculosis (TB) is still one of the major global health threats and delayed diagnosis or misdiagnosis continues to fuel the global epidemic. The conventional diagnostic approaches have shortcomings that might hinder the process of diagnosis of the disease and ultimately affect the prognosis.Area covered: We emphasize on the process of the synthesis of liposomes, its physicochemical properties affecting the formulation and their utilization in the field of molecular diagnostics for TB. The review also sheds a light on other nanoparticle-based molecular diagnostic approaches for TB. Despite the advent of science, we are yet to have a diagnostic tool that is simple, rapid, sensitive, and specific, and most importantly, one that enables us to demarcate patients with active tuberculosis from those with quiescent lesions, prior vaccination, or other diseases.Expert opinion: The utility of liposomes for diagnostic purposes has been attempted so as to overcome the challenges posed by conventional diagnostic tools for TB. Through this review, we present insights into liposome formulation and selection processes, various studies that report the use of liposome-based diagnostic tools for TB, as well as the limitations associated with the same that can be improvised to make the technology more efficient.


Assuntos
Lipossomos , Técnicas de Diagnóstico Molecular , Mycobacterium tuberculosis , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/microbiologia , Tuberculose/diagnóstico , Tuberculose/microbiologia , Humanos , Lipossomos/química , Técnicas de Diagnóstico Molecular/métodos , Técnicas de Diagnóstico Molecular/normas , Nanopartículas/química , Sensibilidade e Especificidade , Nanomedicina Teranóstica
16.
Immunotherapy ; 11(13): 1129-1147, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31390917

RESUMO

A wide array of therapeutic strategies has been implemented against cancers, yet their clinical benefit is limited. The lack of clinical efficacy of the conventional treatment options might be due to the inept immune competency of the patients. Dendritic cells (DCs) have a vital role in initiating and directing immune responses and have been frequently used as delivery vehicles in clinical research. The recent clinical data suggest the potential use of DCs pulsed with nucleic acid, especially with RNA holds a great potential as an immunotherapeutic measure with compare to other cancer therapeutics. This review mainly deals with the DCs and their role in transfection with RNA in cancer immunotherapy.


Assuntos
Vacinas Anticâncer/imunologia , Células Dendríticas/fisiologia , Imunoterapia/métodos , Neoplasias/terapia , RNA/genética , Animais , Apresentação de Antígeno/genética , Células Dendríticas/transplante , Humanos , Tolerância Imunológica , Imunidade , Neoplasias/imunologia , Transfecção , Microambiente Tumoral
17.
Int J Dermatol ; 57(4): 428-433, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29377090

RESUMO

BACKGROUND: Harlequin ichthyosis (HI) is a severe genetic disorder caused by the mutation in the ABCA12 gene. Infants born with this condition have markedly thickened, hard stratum corneum skin all over the body. METHODS: A female child born with a thick white plate of skin with deep cracks all over the body was investigated for genes associated with congenital Ichthyosis by Next Generation sequencing. The variant relevant to the clinical indications was identified using Picard and GATK version 3.6. Variant's pathogenicity was predicted by "in silico" tools like Mutation Taster 2, Mutation Assessor and LRT. Bidirectional Sanger sequencing further validated the same variant detected in the proband and confirmed in the parental blood and CVS. RESULTS: A homozygous 5' splice site variation that affects the position at 4 nucleotides downstream to the donor proximal splice site of intron 40 (c.5939+4A>G; ENST00000272895) of the ABCA12 gene was detected in the proband, and the parents were heterozygous for the same variant. This led to the confirmation of diagnosis of Harlequin ichthyosis in the proband. "In silico" prediction of the variant was found to be damaging by MutationTaster2. The CVS sample during subsequent pregnancy was confirmed to be heterozygous for the same variant. CONCLUSIONS: The novel intronic mutation found in the proband confirmed the clinical diagnosis as a severe type of HI and has helped the family in providing precise genetic counseling for further prevention of the disease and carrier screening of other family members.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Ictiose Lamelar/diagnóstico , Ictiose Lamelar/genética , Evolução Fatal , Feminino , Testes Genéticos , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Recém-Nascido , Íntrons , Masculino , Mutação , Linhagem , Gravidez , Diagnóstico Pré-Natal , Análise de Sequência de DNA
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