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1.
Am J Ophthalmol ; 2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38901720

ABSTRACT

PURPOSE: To evaluate ophthalmological, neurological, radiological, and laboratory data in patients with multiple sclerosis (MS) and to identify new ophthalmological factors that could be helpful as biomarkers of the disease, potentially leading to an earlier prediction of disease course and disability progression. DESIGN: Retrospective, cross-sectional-study. METHODS: Best-corrected visual acuity (BCVA), ophthalmological biomicroscopy of the anterior segment and fundus, structural optical coherence tomography (OCT) with retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC), and OCT Angiography (OCTA) with vascular density (VD) were performed. The following clinical and neuro-radiological features were assessed: MS phenotype, disease duration, clinical severity, type of treatment, and T2-weighted lesion load plus T1-weighted Gd+-enhancing lesion number on the last brain and spinal cord MRI. RESULTS: One hundred and six patients (212 eyes) were analyzed. Sixty-six of them (62.2 %) had MS and 40 (37.8%) were matched healthy controls (HCs). patients with MS showed lower RNFL, GCC, and VD in the radial peripapillary capillary plexus than controls in both eyes (p<0.05). By Performing a logistic regression with a distinct MS outcome for both eyes, we were able to demonstrate that the value that was most predictive of MS was the average GCC thickness (p=0.009). Regression analysis demonstrated that patients with a higher T2-weighted lesions showed a lower RNFL thickness value and reduced GCC and VD values than those with a low lesion load (p<0.01 and p<0.05, respectively). Similarly, relapsing MS patients showed lower RNFL values (p<0.05). CONCLUSIONS: Several OCT- and OCTA-optic nerve parameters could be useful prognostic biomarkers for the MS disease course in clinical practice. However, it is necessary to do additional research with larger sample sizes in order to validate these findings.

2.
Br J Ophthalmol ; 2024 May 06.
Article in English | MEDLINE | ID: mdl-38719346

ABSTRACT

BACKGROUND: To evaluate, in patients undergoing macula-off rhegmatogenous retinal detachment surgery (RRD), the correlation between preoperative optical coherence tomography (OCT) morphological features and postoperative visual acuity. METHODS: Retrospective interventional non-randomised clinical trial on 89 eyes of 89 patients undergoing pars plana vitrectomy for macula-off primary RRD at Policlinico Universitario Agostino Gemelli from 2020 to 2023. Preoperative 6×6 mm OCT B scans with Nidek Mirante (Nidek, Gamagori, Japan) were performed, collecting the following features: foveal involvement (fovea-on vs fovea-off), subretinal hyper-reflective points (HRPs), outer retinal corrugations (ORCs) and intraretinal cystic spaces (ICS) in the outer nuclear layer. The patients were followed in a 6-month follow-up to evaluate best-corrected visual acuity (BCVA) outcomes. RESULTS: Preoperative mean BCVA was 0.15±0.22 and improved to 0.29±0.3 decimals at 6 months (p<0.001). The presence of subretinal HRPs showed a significant negative impact on BCVA improvement in the univariate regression analysis (r=-0.264, p=0.024), as well as the presence of foveal detachment (r=-0.355, p=0.012). The other OCT features did not show a significant correlation with BCVA improvement: ORCs (r=0.072, p=0.257) and ICS (r=-0.020, p=0.734). In the multivariate regression analysis, the negative impact of foveal detachment was confirmed (r=-0.199, p=0.05) while the statistical significance of subretinal HRPs was lost (r=-0.135, p=0.105). CONCLUSIONS: The negative impact of foveal involvement in a macula-off RRD was confirmed. Moreover, the presence of subretinal HRPs, as a possible indirect marker of inflammatory response extent, may act as a negative predictor for postoperative visual recover. TRIAL REGISTRATION NUMBER: NCT05747144.

3.
Article in English | MEDLINE | ID: mdl-38573349

ABSTRACT

PURPOSE: The aim of this study was to define the capability of ChatGPT-4 and Google Gemini in analyzing detailed glaucoma case descriptions and suggesting an accurate surgical plan. METHODS: Retrospective analysis of 60 medical records of surgical glaucoma was divided into "ordinary" (n = 40) and "challenging" (n = 20) scenarios. Case descriptions were entered into ChatGPT and Bard's interfaces with the question "What kind of surgery would you perform?" and repeated three times to analyze the answers' consistency. After collecting the answers, we assessed the level of agreement with the unified opinion of three glaucoma surgeons. Moreover, we graded the quality of the responses with scores from 1 (poor quality) to 5 (excellent quality), according to the Global Quality Score (GQS) and compared the results. RESULTS: ChatGPT surgical choice was consistent with those of glaucoma specialists in 35/60 cases (58%), compared to 19/60 (32%) of Gemini (p = 0.0001). Gemini was not able to complete the task in 16 cases (27%). Trabeculectomy was the most frequent choice for both chatbots (53% and 50% for ChatGPT and Gemini, respectively). In "challenging" cases, ChatGPT agreed with specialists in 9/20 choices (45%), outperforming Google Gemini performances (4/20, 20%). Overall, GQS scores were 3.5 ± 1.2 and 2.1 ± 1.5 for ChatGPT and Gemini (p = 0.002). This difference was even more marked if focusing only on "challenging" cases (1.5 ± 1.4 vs. 3.0 ± 1.5, p = 0.001). CONCLUSION: ChatGPT-4 showed a good analysis performance for glaucoma surgical cases, either ordinary or challenging. On the other side, Google Gemini showed strong limitations in this setting, presenting high rates of unprecise or missed answers.

4.
Semin Ophthalmol ; 39(5): 334-339, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38502067

ABSTRACT

PURPOSE: Electric weapons have dangers associated with their use, such as burns and trauma related with the impacts of uncontrolled falls, even though they often minimize morbidity and mortality. The exact visual outcome of the damage inflicted is unknown, even though numerous studies have been documented in the literature about the ocular damage induced by the use of these tools. METHODS: We present a narrative review of types of eye damage associated with the use of the Taser. The following search terms were used to identify eligible articles through the PubMed database: "TASER", "Conducted Electric Weapons", "CEWs". RESULTS: A total of 15 articles were included with information about 38 patients with eye damage associated with the use of taser. The majority of patients were males. In most cases the mechanism of injury was the penetration of the probe inside the eye. Clinical manifestations of ocular damage were present in only 18 out of 38 cases and varied according to the type of damage mechanism. Indeed, the cases in which the probe had penetrated the eye showed more severe clinical manifestations with a poor visual outcome. CONCLUSION: In conclusion, the introduction of taser use for law enforcement requires serious consideration and adequate training for officers.


Subject(s)
Conducted Energy Weapon Injuries , Humans , Eye Injuries/etiology , Eye Injuries, Penetrating
5.
Ocul Immunol Inflamm ; : 1-8, 2024 Mar 11.
Article in English | MEDLINE | ID: mdl-38466107

ABSTRACT

Systemic sclerosis (SSc) is a chronic multisystemic disease characterized by immunological activation, diffuse vasculopathy, and generalized fibrosis exhibiting a variety of symptoms. A recognized precursor of SSc is Raynaud's phenomenon, which is part of the very early disease of systemic sclerosis (VEDOSS) in combination with nailfold videocapillaroscopy (NVC) impairment. The pathophysiology of ocular involvement, alterations in internal organs, and body integumentary system involvement in SSc patients are complicated and poorly understood, with multiple mechanisms presumptively working together. The most prevalent ocular symptoms of SSc are abnormalities of the eyelids and conjunctiva as well as dry eye syndrome, due to fibroblasts' dysfunction and inflammation of the ocular surface. In particular, lagophthalmos, blepharophimosis limitation of eyelid motion, eyelid telangiectasia, and rigidity or tightening of the lids may affect up to two-third of the patients. In addition, reduction in central corneal thickness, iris defects and higher rates of glaucoma were reported. In the first reports based on retinography or fluorescein angiography, about 50% of SSc patients showed signs of vascular disease: peripheral artery occlusion, thinning of retinal pigment epithelium and choroidal capillaries, ischemic areas surrounded by intraretinal extravasation and microaneurysms, and peripheral capillary non-perfusion. Successively, thanks to the advent of optical coherence tomography angiography (OCTA), several studies highlighted significant impairment of either the choriocapillaris and retinal vascular plexuses, also correlating with NVC involvement and skin disease, even in VEDOSS disease. Given the sensitivity of this technique, ocular micro-vasculopathy may act as a tool for early SSc identification and discriminate between disease stages.

6.
Pharmaceutics ; 16(3)2024 Feb 23.
Article in English | MEDLINE | ID: mdl-38543208

ABSTRACT

The ranibizumab (RBZ) port delivery system (PDS) is a device designed to continuously deliver RBZ in the vitreous chamber for the treatment of neovascular age-related macular degeneration (nAMD). It is implanted during a surgical procedure and can provide sustained release of the medication for several months. This review, updated to January 2024, focuses on past clinical studies as well as current and forthcoming trials looking into a PDS with RBZ. In the phase 2 LADDER trial, the mean time to first refill of a PDS with RBZ 100 mg/mL was 15.8 months, with the pharmacokinetic (PK) profile showing a sustained concentration of RBZ in the blood and aqueous humor. More recently, a PDS with RBZ (100 mg/mL) refilled every 24 weeks was shown to be non-inferior to a monthly intravitreal injection (IVI) with RBZ (0.5 mg) over 40 and 92 weeks in the phase 3 ARCHWAY trial. The refill every 24 weeks allowed for a RBZ vitreous exposure within the concentration range of monthly intravitreal injections (IVIs), and the expected half-life (106 days) was comparable with the in vitro results. Nonetheless, vitreous hemorrhage and endophthalmitis were more common side effects in PDS patients. In conclusion, a PDS continuously delivering RBZ has a clinical effectiveness level comparable with IVI treatment. However, a greater frequency of unfavorable occurrences highlights the need for procedure optimization for a wider adoption. Ongoing trials and possible future approaches need to be addressed.

7.
Brachytherapy ; 2024 Mar 30.
Article in English | MEDLINE | ID: mdl-38556408

ABSTRACT

BACKGROUND: We report a case of personalized exclusive brachytherapy treatment for the management of a highly recurrent squamous cell conjunctival carcinoma with corneal invasion. CASE DESCRIPTION: This is a case of a Caucasian 81-years-old man who presented 10 years ago to our clinic with a pink-white para-limbal mass with dilated feeder arteries and mild leukoplakia. Excisional biopsy confirmed the presence of conjunctival intraepithelial neoplasia (CIN). Successively, he underwent two 4-weeks cycles of Mytomicin C topical therapy and a second excisional surgery, due to several recurrences of the lesion. At the last relapse, the pink-white peri-limbic mass which invaded the corneal limbus, determining corneal opacification from 5- to 7-clock hours, was confirmed by anterior segment optical coherence tomography (AS-OCT). Due to resistance to MMC therapy and chronic epitheliopathy, an AS-OCT guided exclusive radiotherapy plan was set: a Rhutenium-106 CCD plaque was applied directly over the afflicted corneal surface, the corneal limbus and the neighboring sclera for 24 hours. The remission of both conjunctival and corneal malignancy was complete 2 months after surgery and no signs of recurrence were highlighted at AS-OCT analysis at the 2-year follow up. CONCLUSION: Brachytherapy treatment showed optimal management of both corneal and conjunctival involvement, with a free-of-disease follow-up of 24-months. This result suggests that, in specific conditions, Ru-106 brachytherapy could be an effective option of treatment even if not associated with surgical excision.

8.
Br J Ophthalmol ; 2024 Mar 06.
Article in English | MEDLINE | ID: mdl-38448201

ABSTRACT

BACKGROUND: We aimed to define the capability of three different publicly available large language models, Chat Generative Pretrained Transformer (ChatGPT-3.5), ChatGPT-4 and Google Gemini in analysing retinal detachment cases and suggesting the best possible surgical planning. METHODS: Analysis of 54 retinal detachments records entered into ChatGPT and Gemini's interfaces. After asking 'Specify what kind of surgical planning you would suggest and the eventual intraocular tamponade.' and collecting the given answers, we assessed the level of agreement with the common opinion of three expert vitreoretinal surgeons. Moreover, ChatGPT and Gemini answers were graded 1-5 (from poor to excellent quality), according to the Global Quality Score (GQS). RESULTS: After excluding 4 controversial cases, 50 cases were included. Overall, ChatGPT-3.5, ChatGPT-4 and Google Gemini surgical choices agreed with those of vitreoretinal surgeons in 40/50 (80%), 42/50 (84%) and 35/50 (70%) of cases. Google Gemini was not able to respond in five cases. Contingency analysis showed significant differences between ChatGPT-4 and Gemini (p=0.03). ChatGPT's GQS were 3.9±0.8 and 4.2±0.7 for versions 3.5 and 4, while Gemini scored 3.5±1.1. There was no statistical difference between the two ChatGPTs (p=0.22), while both outperformed Gemini scores (p=0.03 and p=0.002, respectively). The main source of error was endotamponade choice (14% for ChatGPT-3.5 and 4, and 12% for Google Gemini). Only ChatGPT-4 was able to suggest a combined phacovitrectomy approach. CONCLUSION: In conclusion, Google Gemini and ChatGPT evaluated vitreoretinal patients' records in a coherent manner, showing a good level of agreement with expert surgeons. According to the GQS, ChatGPT's recommendations were much more accurate and precise.

9.
Graefes Arch Clin Exp Ophthalmol ; 262(7): 2057-2065, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38407592

ABSTRACT

PURPOSE: The aim of our study was to evaluate changes in the retinal and choriocapillaris circulations in patients with hypothalamic amenorrhea. METHODS: Prospective, cross-sectional observational study on 25 patients (50 eyes) diagnosed with hypothalamic amenorrhea and 25 age-matched healthy women. Optical coherence tomography angiography (OCTA) was used to evaluate the vessel density (VD) of superficial capillary plexus (SCP), deep capillary plexus (DCP), and choriocapillaris VD layers in whole 6.4 × 6.4-mm image and in fovea grid-based image. In patients' group, systemic parameters were collected: body mass index (BMI), endometrial rhyme thickness, follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin, insulin, and cortisol. RESULTS: SCP and DCP did not show any statistical difference when comparing patients and controls (all p > 0.05). Differently, choriocapillaris VD in the whole region showed a non-significant tendency toward higher values in the patients group in both eyes (p = 0.038 for right eye [RE], p = 0.044 for left eye [LE]). Foveal choriocapillaris VD was higher in hypothalamic amenorrhea women vs. healthy controls (66.0 ± 2.4 vs. 63.7 ± 6.6%, p = 0.136 for RE; 65.0 ± 2.4 vs. 61.6 ± 7.0%, p = 0.005 for LE). Focusing on correlation with systemic parameters, SCP and DCP foveal density had a medium/high effect size with endometrial rhyme, along with DCP in the fovea area vs. cortisol and SCP in the whole area vs. FSH. CONCLUSION: When comparing hypothalamic amenorrhea patients to healthy subjects, OCTA detected changes in the choriocapillaris layer, showing increased VD in the early stage of the systemic pathology, suggesting that microvascular "compaction" could be a first phase of hypoestrogenism adaptation.


Subject(s)
Amenorrhea , Biomarkers , Choroid , Fluorescein Angiography , Retinal Vessels , Tomography, Optical Coherence , Humans , Female , Tomography, Optical Coherence/methods , Cross-Sectional Studies , Prospective Studies , Amenorrhea/diagnosis , Amenorrhea/physiopathology , Amenorrhea/etiology , Amenorrhea/blood , Choroid/blood supply , Fluorescein Angiography/methods , Adult , Young Adult , Biomarkers/blood , Fundus Oculi , Hypothalamic Diseases/diagnosis , Hypothalamic Diseases/physiopathology , Hypothalamic Diseases/complications , Capillaries , Adolescent
10.
Pathol Res Pract ; 255: 155182, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38335782

ABSTRACT

BACKGROUND: Primary and metastatic leiomyosarcomas (LMS) involving the orbital region are well known to occur however, the conjunctiva represents an extremely rare site of occurrence. METHODS: A 97-year-old male was referred to the Ocular Oncology Unit due to a rapidly growing painful mass (16×12×20 mm) in the nasal conjunctiva of his left eye. Wide excision followed by radiotherapy was performed. RESULTS: Based on the microscopic features (hypercellular neoplasm composed of spindle cells with cigar shaped and blunt ended nuclei with brightly eosinophilic fibrillary cytoplasm) and immunohistochemical findings (positive staining for Vimentin, Desmin, Caldesmon, and SMA and negative staining for AE1/AE3, EMA, CD117, S100, MelanA, SOX10, HMB45, TLE1, CD99, EMA and AE1 / AE3) the final diagnosis of grade 2 leyomiosarcoma was rendered. Moreover, 'in deep' DNA sequencing (>500 genes analysis) revealed a neoplasm with high TMB: 64 muts/Mb and numerous VUS and several pathogenic/oncogenic molecular alterations, including CNV loss or gain in > 10 genes. At the last follow-up visit, residual disease was observed in the superior fornix, at the nasal limbus and the cornea. At the time of writing, after a follow-up of 2 month the patients is still alive without evidence of metastatic disease. CONCLUSION: An uncommon molecular finding observed in our case was the presence of TSC1 gene mutation usually associated with soft tissue and gynecological PEComas. Our finding may harbor important therapeutic implications since the inactivation of the tumor suppressor genes TSC1 and TSC2 lead to upregulation of mTOR signaling, providing the rationale for target therapy with mTOR inhibitors. Additional studies on larger series are needed to validate our findings.


Subject(s)
Leiomyosarcoma , Skin Neoplasms , Male , Humans , Aged, 80 and over , Leiomyosarcoma/genetics , Leiomyosarcoma/pathology , Immunohistochemistry , Calmodulin-Binding Proteins , Cell Nucleus/pathology , Biomarkers, Tumor/genetics , Biomarkers, Tumor/analysis
11.
Ophthalmic Surg Lasers Imaging Retina ; 55(2): 104-108, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38198610

ABSTRACT

The migration of silicone oil into the suprachoroidal region is a rare complication of vitrectomy. A 70-year-old man was admitted to our ocular oncology unit with a choroidal elevation in the nasal area, as well as signs of pars plana vitrectomy surgery performed about 5 years ago for retinal detachment. The patient underwent ocular ultrasound, visual field test, fluorangiography, and magnetic resonance imaging, which led to the diagnosis of silicone oil migration in the suprachoroidal space. Silicone oil may move into the suprachoroidal area, mimicking choroidal neoformation. It is important to have a comprehensive diagnosis and then set up the appropriate treatment. [Ophthalmic Surg Lasers Imaging Retina 2024;55:104-108.].


Subject(s)
Choroidal Effusions , Neoplasms , Retinal Detachment , Male , Humans , Aged , Silicone Oils/adverse effects , Incidental Findings , Retinal Detachment/diagnosis , Retinal Detachment/etiology , Retinal Detachment/surgery , Vitrectomy/methods , Neoplasms/complications , Neoplasms/surgery , Choroidal Effusions/complications , Choroidal Effusions/surgery
12.
Eur J Ophthalmol ; 34(1): NP27-NP31, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37192674

ABSTRACT

BACKGROUND: To discuss the efficacy of an inferior implant of XEN 63 gel stent in a patient with refractory glaucoma after trabeculectomy failure and vitreoretinal surgery with silicone oil tamponade. CASE DESCRIPTION: We report the case of a 73-year-old man with a history of refractory open glaucoma with trabeculectomy failure. He experienced recurrent retinal detachments with silicone oil tamponade, with uncontrolled intra-ocular pressure (IOP) after silicone oil removal. Due to the presence of oil emulsion in the anterior chamber, the chosen location for XEN 63 implantation was the infero-temporal quadrant. Mild hyphema and vitreous hemorrhage were seen post-operatively, but were self-limiting. At week 1, the intraocular pressure was 8 mmHg with a well-formed bleb seen in anterior segment optical coherence tomography (AS-OCT). At 6 month follow up, the patient maintained a IOP of 12 mmHg without topical hypotensive drugs. Slit lamp examination revealed a widespread, developed bleb with no signs of inflammation. CONCLUSION: In this case of refractory glaucoma in a vitrectomized eye with previous oil tamponade, the inferior placement of the XEN 63 gel stent delivered an adequate intraocular pressure even at 6-months follow up, with a diffuse functional infero-nasal bleb seen with AS-OCT.


Subject(s)
Glaucoma Drainage Implants , Glaucoma, Open-Angle , Glaucoma , Male , Humans , Aged , Glaucoma, Open-Angle/surgery , Silicone Oils/adverse effects , Glaucoma Drainage Implants/adverse effects , Glaucoma/surgery , Intraocular Pressure , Stents/adverse effects
13.
Clin Exp Ophthalmol ; 52(1): 42-53, 2024.
Article in English | MEDLINE | ID: mdl-37983671

ABSTRACT

BACKGROUND: This study aimed to evaluate the impact of PreserFlo Microshunt on the ocular surface, focusing on both objective and subjective parameters. METHODS: Prospective-observational study on 48 eyes undergoing PreserFlo Microshunt implantation, standalone or combined with phacoemulsification. At baseline, 1-month, 6-months and 12-months post-operative follow-ups, we performed Ocular Surface Disease Index (OSDI) questionnaire, Schirmer's test (ST), Tear-film break-up time (TBUT), fluoresceine staining (FS), tear osmolarity and minimum corneal epithelial thickness (Epi-ThkMIN. ) measurements. RESULTS: OSDI score improved from 37.43 ± 17.49 at baseline, to 24.13 ± 12.55 at 1-month (p = 0.003) and to 12.89 ± 8.54 and 13.09 ± 10.22 at 6-months and 12-months (p < 0.0001). TBUT and ST, in a similar way, non-significantly increased at 1-month, but then improved at 6-months and 12-months (p < 0.05 for both). Tear osmolarity significantly decreased from 308.2 ± 7.3 mOsm/L at baseline, to 303.3 ± 8.2 mOsm/L, 295.6.2 ± 7.0 mOsm/L and 297.6 ± 6.8 mOsm/L at 1-month, 6-months and 12-months (p < 0.05 for all). Epi-ThkMIN was stable when comparing baseline (44.9 ± 5.7 µm) and 1-month (p = 0.28), and successively increased in 6-months (47.8 ± 5.5 µm, p = 0.02) and 12-months (48.0 ± 3.6 µm, p = 0.01). In subgroup analysis, OSDI score and tear osmolarity were significantly higher at 1-month in combined group compared to standalone group (p = 0.03 and p = 0.02, respectively), but reaching comparable values in successive follow-ups. Further, Oxford scale grades for FS were significantly improved when comparing baseline-6-months and baseline-12-months. CONCLUSION: PreserFlo implantation improved ocular surface subjective symptoms, increased TBUT and ST, and reduced FS, highlighting the potential benefits of this surgical intervention. Moreover, we reported significant improvements of tear osmolarity and corneal epithelium.


Subject(s)
Dry Eye Syndromes , Humans , Dry Eye Syndromes/diagnosis , Dry Eye Syndromes/surgery , Prospective Studies , Quality of Life , Tears , Fluorescein , Osmolar Concentration
14.
Genes (Basel) ; 14(11)2023 Nov 08.
Article in English | MEDLINE | ID: mdl-38002998

ABSTRACT

Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that respond to targeted drugs and, in some cases, may confer resistance to other therapies. Particularly for rare conditions, personalized medicine has the potential to revolutionize treatment strategies. Rare cancers often lack extensive datasets of molecular and pathological information, large-scale trials for novel therapies, and established treatment guidelines. Consequently, surgery is frequently the only viable option for many rare tumors, when feasible, as traditional multimodal approaches employed for more common cancers often play a limited role. Sebaceous carcinoma of the eyelid is an exceptionally rare cancer affecting the eye's adnexal tissues, most frequently reported in Asia, but whose prevalence is significantly increasing even in Europe and the US. The sole established curative treatment is surgical excision, which can lead to significant disfigurement. In cases of metastatic sebaceous carcinoma, validated drug options are currently lacking. In this project, we set out to characterize the mutational landscape of two sebaceous carcinomas of the eyelid following surgical excision. Utilizing available bioinformatics tools, we demonstrated our ability to identify common features promptly and accurately in both tumors. These features included a Base-Excision Repair mutational signature, a notably high tumor mutational burden, and key driver mutations in somatic tissues. These findings had not been previously reported in similar studies. This report underscores how, in the case of rare tumors, it is possible to comprehensively characterize the mutational landscape of each individual case, potentially opening doors to targeted therapeutic options.


Subject(s)
Adenocarcinoma, Sebaceous , Carcinoma, Basal Cell , Sebaceous Gland Neoplasms , Skin Neoplasms , Humans , Sebaceous Gland Neoplasms/genetics , Sebaceous Gland Neoplasms/pathology , Sebaceous Gland Neoplasms/surgery , Adenocarcinoma, Sebaceous/genetics , Adenocarcinoma, Sebaceous/pathology , Adenocarcinoma, Sebaceous/surgery , Eyelids/pathology , DNA Repair
15.
Eur J Ophthalmol ; 33(6): 2303-2308, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37437594

ABSTRACT

BACKGROUND: To describe the efficacy and safety of the adjustable system eyeWatch in vitrectomized glacomatous eyes. METHODS: Prospective, non-comparative, small case series of 2 patients who underwent glaucoma drainage device implant with the eyeWatch system. Intraocular pressure, number of medications and early and late complications were evaluated. RESULTS: None of the operated eyes developed early or late complications. After 1 week post operatively, the IOP raised at 28 mmHg in the first eye and 25 mmHg in the second one. The eyeWatch Pen was used to open and set the device into position 3 (that means implant half opened) After waiting for 30 min, IOP was 15 mmHg and 11 mmHg, respectively. Thirty days after surgery we set the EyeWatch into position 0 (that means implant full opened) even though the IOP was under control. A new IOP measurement was done and we registered that IOP was 14 mmHg and 10 mmHg respectively, and it remained stable after six months of follow up. CONCLUSION: In conclusion, in our case series the use of eyeWatch adjustable system allows a safe and gradual regulation of the flow during post-operative management also in vitrectomized eyes. Considering the percentage of hypotony related complications in vitrectomized eyes this system is an effective and safe technique to handle glaucoma in post vitreoretinal surgery eyes.

16.
J Pers Med ; 13(6)2023 May 27.
Article in English | MEDLINE | ID: mdl-37373893

ABSTRACT

Fabry disease (FD) is an X-linked lysosomal storage disorder, causing Gb-3 (globotriaosylceramide) buildup in cellular lysosomes throughout the body, in particular in blood vessel walls, neuronal cells, and smooth muscle. The gradual accumulation of this glycosphingolipid in numerous eye tissues causes conjunctival vascular abnormalities, corneal epithelial opacities (cornea verticillata), lens opacities, and retinal vascular abnormalities. Although a severe vision impairment is rare, these abnormalities are diagnostic indicators and prognostics for severity. Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in predicting systemic involvement. New technologies such as optical coherence tomography angiography (OCTA) are useful for monitoring retinal microvasculature alterations in FD patients. Along with OCTA, corneal topographic analysis, confocal microscopy, and electro-functional examinations, contributed to the recognition of ocular abnormalities and have been correlated with systemic involvement. We offer an update regarding FD ocular manifestations, focusing on findings derived from the most recent imaging modalities, to optimize the management of this pathology.

17.
Int Ophthalmol ; 43(9): 3035-3044, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37031312

ABSTRACT

PURPOSE: The aim this study is to determine anterior chamber parameters variations induced by PreserFlo MicroShunt implantation, in the early post-operative days. METHODS: This is a prospective observational study on 48 eyes undergoing PreserFlo MicroShunt implantation alone (n = 30) or combined with phacoemulsification (n = 18). Anterior chamber depth (ACD) and volume (ACV), central corneal thickness (CCT) and total corneal astigmatism (TCA) were evaluated pre-operatively, post-operatively at day-1 and at 1 week with the Pentacam tomography. RESULTS: Intraocular pressure decreased significantly from 20.9 ± 4.0 to 8.0 ± 2.8 mmHg (p < 0.0001) and to 10.8 ± 3.7 mmHg (p = 0.0001) at day-1 and week-1, respectively. TCA varied significantly from baseline (1.5 ± 1.2 D) to both day 1 follow up (2.7 ± 1.9 D, p = 0.0003) and week 1 follow up (2.2 ± 1.6 D, p = 0.02). Nevertheless, only K1 showed a transient flattening at day 1, while K2 value didn't show any statistical variation in the early post-operative period. CCT value rose significantly at day 1 (547 ± 49 vs. 529 ± 32 µm at baseline, p = 0.04), but then returned toward pre-operative values at week 1 (537 ± 39 µm, p = 0.57). In contrast, ACD values changed insignificantly from 3.3 ± 0.9 to 3.7 ± 1.0 mm at day 1 (p = 0.21), and then stabilized at 3.4 ± 0.9 mm (p = 0.82) at week 1 follow up. ACV changed from 150.0 ± 36.2 to 159.5 ± 42.1 mm3 at day 1 (p = 0.58), and successively to 153.9 ± 37.9 mm3 at week 1 follow up (p = 0.96). The subgroup analysis in eyes undergoing standalone PreserFlo implantation didn't show significant changes in both ACD and ACV. CONCLUSION: PreserFlo implantation minimizes the anterior chamber modifications generated by traditional filtering surgery, inducing low and transient corneal and biometric changes only in the very early postoperative period and insignificant changes to ACD and ACV, label of its safety and minimal invasiveness.


Subject(s)
Cataract Extraction , Glaucoma, Open-Angle , Humans , Glaucoma, Open-Angle/diagnosis , Glaucoma, Open-Angle/surgery , Anterior Chamber/diagnostic imaging , Cornea/surgery , Cataract Extraction/methods , Intraocular Pressure , Postoperative Period
18.
J Robot Surg ; 17(5): 1995-2000, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37103772

ABSTRACT

Da Vinci three-dimensional (3D) system has been increasingly used in customary surgical settings, gaining fundamental relevance for abdominal, urological, and gynecological laparoscopic surgery. The aim of this research is to evaluate the degree of discomfort and potential changes in the binocular vision and ocular motility of surgical operators, who employ 3D vision systems during Da Vinci robotic surgery. Twenty-four surgeons were enrolled in the study, including twelve who typically use the 3D Da Vinci system and twelve who routinely employ 2D system. Routine general ophthalmological and orthoptic examinations were conducted at baseline (T0), the day before surgery, and 30 min after the 3D or 2D surgery (T1). In addition, surgeons were interviewed using a questionnaire of 18 symptoms, with each item containing three questions regarding the frequency, severity, and bothersomeness of the symptoms, in order to evaluate the degree of discomfort. Mean age at evaluation was 45.28 ± 8.71 years (range 33-63 years). Cover test, uncover test, and fusional amplitude showed no statistically significant difference. After surgery, no statistical difference was observed in the Da Vinci group on the TNO stereotest (p > 0.9999). However, the difference in the 2D group resulted statistically significant (p = 0.0156). Comparing participants (p 0.0001) and time (T0-T1; p = 0.0137), the difference between the two groups was statistically significant. Surgeons using 2D systems reported more discomfort than those using 3D systems. The absence of short-term consequences following surgery with the Da Vinci 3D system is a promising conclusion, considering the numerous advantages of this technology. Nonetheless, multicenter investigations and more studies are required to verify and interpret our findings.


Subject(s)
Gynecology , Laparoscopy , Robotic Surgical Procedures , Surgeons , Humans , Adult , Middle Aged , Robotic Surgical Procedures/methods , Laparoscopy/adverse effects , Laparoscopy/methods
19.
Am J Ophthalmol Case Rep ; 30: 101840, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37077295

ABSTRACT

Purpose: We present a case of a patient with Marfan Syndrome who underwent a personalized approach to manage a spontaneous ciliary body detachment and degeneration of the ciliary processes, causing refractive ocular hypotony. Observations: A 20-year-old MFS man, with a history of bilateral juvenile cataract surgery with failed IOL positioning due to subluxation and consequent explantation, was referred to our clinic after the discovery of persistent ocular hypotonia in his left eye for the past two months, non-responder to corticosteroids. Slit-lamp examination showed shallow anterior chamber and aphakia, with chorioretinal folds, optic disc swelling and mild peripheral retinal lifting. Intraocular pressure (IOP) was 4 mmHg. Ultrasound biomicroscopy (UBM) revealed the presence of a flat, annular ciliochoroidal detachment, posterior pole congestion and total ciliary body separation. One-month systemic therapy with corticosteroids revealed ineffective, and a newly performed UBM showed a significant reduction in the number and thickness of the ciliary processes. At this point, he underwent 23-gauge pars plana vitrectomy with silicone oil endotamponade, combined with a focal trans-scleral cryopexy of the ciliary body, 2 mm behind the limbus and one spot per quadrant, in order to favor ciliary body reattachment. Post-operative IOP was 28 mmHg and the choroidal detachment was resolved, with UBM highlighting ciliary body reattachment. Six months after, with good IOP control using topical therapy, silicone oil was removed. One year after, visual acuity had inccreased to 6/10 and a good IOP control was still maintained with eye drops. Conclusion and Importance: A rare case of spontaneous ciliary body detachment in a long standing aphakic MFS patient was successfully managed with focal trans-scleral cryopexy of the ciliary body combined with pars plana vitrectomy and silicone oil endotamponade.

20.
Ophthalmologica ; 246(1): 58-67, 2023.
Article in English | MEDLINE | ID: mdl-36843038

ABSTRACT

INTRODUCTION: The aim of this study was to explore the early efficacy and safety of treatment with intravitreal injections (IVIs) of brolucizumab in patients presenting with neovascular age-related macular degeneration (nAMD) in a real-world setting. METHODS: This retrospective study included 194 eyes of 180 patients with nAMD treated with standard 6-mg IVIs of brolucizumab in our clinic between March 11, 2021, and June 15, 2022. Both treatment-naive (33 eyes) and switch therapy patients (161 eyes) were included in the study. Best corrected visual acuity (BCVA), central subfield thickness (CST), retinal fluid distribution (classified as intraretinal, subretinal, under the pigmented epithelium), treatment intervals, and adverse event rates were collected for analysis. RESULTS: Average follow-up time was 37.2 ± 16.6 weeks. Mean baseline BCVAs were 38.1 ± 4.5 and 41.9 ± 6.7 letters in the treatment-naive and switch therapy groups, with a final gain of 16.0 ± 4.9 (p < 0.0001) and 10.7 ± 5.9 (p < 0.0001) letters in the two groups, respectively. Throughout the study period, CST significantly decreased in both treatment naïve (from 352.0 ± 129.4 to 284.2 ± 93.8 µm; p = 0.0015) and switch therapy (from 369.9 ± 140.5 to 307.4 ± 123.5 µm; p < 0.0001). Significant fluid control rates were achieved at the end of the study period (45% and 27% eyes were completely free of fluid in naïve and switch groups, respectively). Five eyes (2.6%) developed adverse events with different grades of intraocular inflammation and visual outcomes. CONCLUSION: Brolucizumab IVI showed very good anatomical and functional outcomes in both naive and switch patients in this real-world experience. Nevertheless, even showing a favorable risk/benefit profile, clinicians and patients should be aware of the possibility of a small rate of severe complications.


Subject(s)
Angiogenesis Inhibitors , Wet Macular Degeneration , Humans , Retrospective Studies , Vascular Endothelial Growth Factor A , Receptors, Vascular Endothelial Growth Factor/therapeutic use , Visual Acuity , Wet Macular Degeneration/diagnosis , Wet Macular Degeneration/drug therapy , Intravitreal Injections , Recombinant Fusion Proteins/therapeutic use , Tomography, Optical Coherence
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