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Biomedical subjects

Jose S Pulido

Publications and source records attributed to Jose S Pulido.

At least 19 recordsLinked to original sources
PubMed2026

Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.

BACKGROUND/OBJECTIVE: Retinal involvement in autoimmune polyendocrine syndrome type 1 (APS1), a rare monogenic autoimmune disorder caused by mutations in the AIRE gene, is increasingly recognised but remains poorly defined. Prior reports suggest a variable phenotype, ranging from mild changes to severe vision loss, often presumed untreatable. We explored the range of retinal phenotypes associated with AIRE gene deficiency in a multicentre case series of patients with APS1. METHODS: We performed a retrospective case note review of patients with molecularly confirmed APS1 from tertiary ophthalmic centres. Clinical history, multimodal retinal imaging, electrophysiology, genetic data, and treatment regimens were analysed. Histopathology was available in one case postmortem. RESULTS: Records were reviewed from five unrelated female patients. Median age was 14 years at onset of ocular involvement and 33 years at most recent follow up. Some findings from two cases have been previously reported. Three distinct pathogenic AIRE variants contributing to biallelic genotypes were observed. Retinal findings ranged from structurally and functionally normal to advanced degeneration. One patient demonstrated sharp zonal atrophy on histopathology. Inflammatory features predominated in two cases, both showing durable vision preservation with periocular or systemic immunomodulation. One patient demonstrated four years of disease stabilisation with rituximab. No consistent genotype-phenotype correlation emerged. CONCLUSION: AIRE-associated retinopathy encompasses a diverse spectrum, from clinically silent to profound degeneration. Early, targeted immunomodulation might preserve vision in selected cases. These findings advocate for ophthalmic surveillance in APS1, and support further investigation into predictive biomarkers and possible tailored immunotherapy in this vision-threatening autoimmune disorder.

Humans↗
PubMed2006

Reelin expression is upregulated following ocular tissue injury.

PURPOSE: Reelin is important in the guidance of neuronal stem cells in the central nervous system during normal development. We wished to determine whether reelin is expressed in the retina and cornea after injury. METHODS: Mice underwent laceration of their retina as well as corneal epithelial debridement. The mice were sacrificed at 3 days, and eyes were fixed and stained for reelin expression and reelin messenger ribonucleic acid (mRNA). RESULTS: In normal eyes, reelin was expressed only at very low levels in the ganglion cell layer of the retina and the endothelial cell layer of the cornea. In injured eyes, there was marked expression in reelin immunoreactivity in the retina and cornea. Reelin gene expression was seen in the retina and cornea. CONCLUSIONS: Reelin is expressed during normal retinogenesis. This study shows that reelin is also upregulated following injury to the retina and cornea. The expression of reelin following injury suggests that reelin may play an important role in regulating stem cell trafficking in neuronal and nonneuronal tissues following injury similar to its role in normal organogenesis.

Animals↗
PubMed2006

Ocular manifestations and treatment of central nervous system lymphomas.

Intraocular primary central nervous system lymphoma (PCNSL), also called primary intraocular lymphoma (PIOL), is a subset of PCNSL in which lymphoma cells invade the subretinal pigment epithelial space and vitreous cavity with or without central nervous system involvement at the time of ocular diagnosis. The frequency of this rare condition has increased over the past years in immunosuppressed as well as immunocompetent patients. The authors review the current status of PIOL and elaborate on their group's experience with its diagnosis and treatment. The incidence of PIOL is increasing. There is evidence that chronic antigenic stimulation may result in the development of PIOL. Recent advancements in the diagnosis of PIOL include better handling of vitreous specimens for cytological studies, immunocytological investigation for lymphoid cells, flow cytometry, cytokine evaluation, and molecular analysis. Because PIOL has a nonspecific presentation, the differential diagnosis should include infectious and noninfectious causes presenting with vitreitis and/or subepithelial infiltration as well as paraneoplastic syndromes including CRMP-5 optic neuropathies. Given that therapy is long-term and has significant systemic and ocular complications, tissue diagnosis is important. Treatment of PIOL may include systemic chemotherapy in which high-dose methotrexate-based regimens are used as well as intraocular injections of methotrexate and rituximab (anti-CD20 antibody). Cranial and ocular external-beam radiotherapy is being used less often today. Further studies are needed to prevent the tumor formation in terms of eliminating antigenic load and inhibiting Bcell chemokines as well as to determine the optimal local and systemic chemotherapy and immunotherapy options in the management of PIOL.

Brain Neoplasms↗
PubMed2006

Capillary electrophoretic assay for nitrate levels in the vitreous of proliferative diabetic retinopathy.

The determination of nitric oxide (NO) in human vitreous samples is complicated by the relatively short half-life of the analyte and the viscous, high salt and protein biological matrix. In this work, we developed a fast (<5min) and useful CE method to determine the stable metabolite, nitrate, from vitreous samples. This proposed method has been successfully applied to determine the nitrate levels from the vitreous humor of patients undergoing vitrectomy for a variety of conditions. A statistically significant increase (P=0.000001) of the mean level of nitrate was observed in vitreous humor of patients with proliferative diabetic retinopathy (41.17+/-4.09microM, n=27) versus controls (15.22+/-0.86microM, n=35). The elevated levels of nitrate in the vitreous of patients known to have diabetic retinopathy suggests that NO is involved with the pathology of this disease.

Diabetic Retinopathy↗
PubMed2006

Absence of histologic retinal toxicity of intravitreal bevacizumab in a rabbit model.

PURPOSE: To evaluate the retinal toxicity of intravitreal bevacizumab in an animal model. DESIGN: Animal study. METHODS: Bevacizumab was injected into the vitreous of one eye of each of eight Dutch-belted rabbits; the other eye served as a control. Four rabbits received a dose of 1.25 mg/0.05 ml of bevacizumab intravitreally into one eye, and the other four rabbits were injected with 2.5 mg/0.1 ml of bevacizumab intravitreally into one eye. At one month, the rabbits were killed and both eyes enucleated. The eyes were fixed with paraformaldehyde 2% and examined by light microscopy. RESULTS: In all injected and control eyes, there was mild vacuolization in the ganglion cell layer, and disruption of photoreceptor outer segments in both treated and control eyes, to the same degree, consistent with autolysis. The optic nerve, retina, and retinal pigment epithelium were otherwise normal by light microscopy with no evidence of toxicity. CONCLUSIONS: Intravitreal bevacizumab at doses of 1.25 mg and 2.5 mg showed no signs of retinal or optic nerve toxicity by light microscopy in this rabbit model.

Angiogenesis Inhibitors↗
PubMed2006

Intraocular methotrexate in ocular diseases other than primary central nervous system lymphoma.

PURPOSE: To investigate whether intravitreal methotrexate could be safely administered and improve vision in patients with ocular disease other than primary central nervous system lymphoma (PCNSL). DESIGN: A retrospective, small-case series. METHODS: Patients with various clinical conditions were treated with intravitreal methotrexate (cumulative dose < or =400 microg). Visual acuity and clinical examination were recorded to assess the safety and efficacy of the injection. RESULTS: Of 16 study eyes, final visual acuity was improved in seven, remained stable in five, and decreased in four. There was no observed toxicity attributable to methotrexate in any case. CONCLUSION: Preservation of visual acuity in 12 of 16 study eyes suggests that a 400-microg intravitreal injection is safe in ocular disease other than PCNSL. The loss of acuity in four eyes with advanced preexisting pathology may be just as likely attributable to the natural history of the disease as to intraocular methotrexate.

Adult↗
PubMed2006

A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.

PURPOSE: To report a case of a unilateral retinal cavernous hemangioma associated with a novel splice-site mutation in CCM1/KRIT1. METHODS: An 11-year-old girl was noted to have an asymptomatic retinal cavernous hemangioma in the left eye. CCM1/KRIT1 was screened for mutations. RESULTS: Genetic evaluation of CCM1/KRIT1 revealed a single guanine-to-cytosine transversion in the invariant splice acceptor consensus sequence of intron 8 (c.1146-1G-->C), which is predicted to result in abnormal protein splicing. CONCLUSIONS: Mutations in CCM1/KRIT1 may be found in asymptomatic patients with retinal cavernous hemangioma.

Ankyrin Repeat↗
PubMed2006

Treatment of nonexudative (dry) age-related macular degeneration.

PURPOSE OF REVIEW: The purpose of this report is to review the recent literature and summarize currently available and potential new treatment options for nonexudative age-related macular degeneration. RECENT FINDINGS: High-dose vitamin supplementation may have some associated systemic toxicity. It is important to check that the patient is taking beta-carotene and not vitamin A as retinal acetate or palmitate, which have been associated with osteoporosis and hepatotoxicity. High-dose vitamins E and C may be associated with cardiovascular disease. Decreasing inflammation by lowering systemic cardiac C-reactive protein, fibrinogen and cholesterol may be important, especially in light of recent epidemiologic and genetic data. The results of randomized trials of laser treatment for drusen and rheopheresis should be available during 2006. Treatment with these modalities before the results of the trials are evaluated should be avoided. SUMMARY: The holy grail of therapy for age-related macular degeneration is to avoid the development of choroidal neovascularization. High-dose vitamin supplementation should be used only in those in whom it is indicated and inflammatory parameters including highly sensitive C-reactive protein, fibrinogen and cholesterol should be stabilized because there are data associating these parameters with age-related macular degeneration and also with cardiovascular disease.

Angiogenesis Inhibitors↗
PubMed2006

Combined positron emission tomography/computed tomography for evaluation of presumed choroidal metastases.

BACKGROUND: Choroidal metastases are the most common intraocular malignancy and are the first sign of systemic malignancy in approximately one-third of patients. Of patients with no previous diagnosis of cancer, oncological evaluation fails to find the primary lesion in approximately 50% of cases. Newer imaging modalities such as combined positron emission tomography/computed tomography (PET/CT) may improve the yield of the systemic work-up. METHODS: Consecutive patients presenting with presumed choroidal metastases were evaluated with whole body combined PET/CT scanning. RESULTS: Four patients presenting to a tertiary referral hospital with choroidal metastases as the first sign of systemic malignancy were evaluated. In all four cases, PET/CT demonstrated the ocular lesion, and the primary malignancy which was confirmed by tissue biopsy. False-negative results were seen in two cases of cerebral metastases. PET/CT demonstrated lesions not visible on CT or magnetic resonance imaging in two cases. CONCLUSIONS: Combined PET/CT is a useful addition to the work-up of patients with choroidal metastases. It provides the opportunity to detect lesions not visible with other imaging modalities and the ability to image patients with contraindications to magnetic resonance imaging. It is essential to correlate PET images with clinical information and the results of other imaging modalities and tissue biopsy remains the gold standard in the diagnosis of malignancy. False positives and negatives can occur with PET/CT, and further research is needed before this promising technology becomes a routine part of the evaluation of patients with choroidal metastases.

Adult↗
PubMed2005

Intravitreal triamcinolone for treatment of complicated proliferative diabetic retinopathy and proliferative vitreoretinopathy.

BACKGROUND: We present a retrospective evaluation of the clinical outcome and complications associated with intravitreal injection of unaltered triamcinolone acetonide in conjunction with pars plana vitrectomy and silicone oil injection for the treatment of complicated proliferative diabetic retinopathy with tractional retinal detachment and severe proliferative vitreoretinopathy. METHODS: Thirteen eyes of 12 consecutive patients were identified from a computerized patient database. All eyes were operated on by the same surgeon and received 4 mg of unaltered, commercially available triamcinolone acetonide intravitreally, before silicone oil injection. The patients were followed for a mean of 4.7 months (range 1-15 months), and demographic as well as pertinent preoperative and postoperative clinical information was gathered. RESULTS: At the last follow-up visit, vision had improved in 4 eyes, remained stable in 5 eyes, and worsened in 4 eyes. The retina was attached at the end of follow-up in 10 of the 13 eyes. Eight of the 13 eyes did not show any clinical signs of re-roliferation or redetachment during the course of follow-up. The mean intra-ocular pressure did not increase (preoperative value was 10.8+/- 6.22 mm Hg with a range of 0-22 mm Hg; at last follow-up, mean pressure was 9.6 +/-3.86 mm Hg with a cumulative postoperative range of 0-26 mm Hg). Steroid crystals were visible at 1 month postoperatively in 3 eyes and did not hinder fundus examination significantly. INTERPRETATION: The intravitreal injection of low-dose, unaltered triamcinolone acetonide in the setting of pars plana vitrectomy and silicone oil injection for the treatment of proliferative vitreoretinopathy and complicated proliferative diabetic retinopathy appears to be well tolerated. Further controlled study is needed to clearly define the potential beneficial effects of intravitreal steroids in these 2 disease processes.

Adult↗
PubMed2005

Rheopheresis for age-related macular degeneration: clinical results and putative mechanism of action.

BACKGROUND: Rheopheresis is being evaluated in a clinical trial. The rationale and available results are presented. METHODS: We reviewed the literature about the pathophysiology of age-related macular degeneration (AMD) that might support the use of rheopheresis. In addition, we reviewed the previously published results of the use of rheopheresis for AMD. RESULTS: There appears to be a diffusion barrier caused by accumulation of cross-linked proteins known as advanced macular oxidation products (AMOPS) in AMD. Rheopheresis allows removal of uncross-linked proteins and facilitates antioxidant entry into Bruch's membrane, preventing further accumulation of AMOPS. The Multicenter Investigation of Rheopheresis for AMD (MIRA-1), an ongoing double-masked randomized trial, should determine the efficacy of rheopheresis in preventing the progression of AMD. The interim results, from an analysis of visual acuity data for 43 patients, are encouraging, confirming the potential of rheopheresis as a therapeutic option for dry AMD. The benefit was evident immediately after treatment and remained essentially stable throughout the 12-month period of evaluation. Eyes with late-stage, high-risk, dry AMD appeared to be at significant risk for substantial vision loss over the 12 months if not treated. Subgroup analysis demonstrated that the timing of rheopheresis in the course of a patient's disease may have a pronounced effect on outcome. INTERPRETATION: There appears to be a rationale for the use of rheopheresis in AMD. Further results of the clinical trial are awaited.

Blood Component Removal↗