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1.
Retina ; 2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38363792

RESUMO

PURPOSE: We sought to determine if universal face mask guidelines implemented during the COVID-19 pandemic significantly influenced the incidence of endophthalmitis following intravitreal injections (IVI). METHODS: This retrospective cohort study reviewed the electronic health records from a retina-only practice located in Michigan. The study evaluated patients receiving IVIs over two distinct time periods of April 2019-March 2020, and April 2020-March 2021, which made up our unmasked and masked groups, respectively. We then calculated the incidence of endophthalmitis following IVI and evaluated cases of post-injection endophthalmitis for both time periods. RESULTS: There were a total of 121,384 intravitreal injections performed over the two year period of interest. Of these, there were 63,114 unmasked and 58,270 masked patient encounters. A total of 46 post-injection endophthalmitis cases were identified. Of these, 29 cases were from the unmasked period and 17 were from the masked period. This resulted in an incidence of endophthalmitis of 0.046% and 0.038% in the masked and unmasked groups, respectively. This difference did not rise to the level of statistical significance (p=0.1336). CONCLUSION: This study suggests that the incidence of post-injections endophthalmitis was not influenced by the implementation of ophthalmologist-patient face masking after intravitreal injection during the COVID-19 pandemic.

3.
Retina ; 44(2): 222-229, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-37903288

RESUMO

PURPOSE: Although pivotal trials have demonstrated efficacy of anti-vascular endothelial growth factor therapy in neovascular age-related macular degeneration, there is a paucity of clinical data about the long-term (>5 years) treatment. METHODS: Retrospective analysis of all patients with neovascular age-related macular degeneration who were actively treated, had received >40 anti-vascular endothelial growth factor injections, and were followed for ≥5 years. Snellen-corrected visual acuity, initial drug choice, and times elapsed between treatments were collected. Rates of endophthalmitis and outcomes of submacular hemorrhage were also evaluated. RESULTS: A total of 88 patients (162 eyes) met the inclusion criteria: the average patient age was 86.3 years with an average follow-up period of 7.6 years. The average total number of injections per eye was 69 (18.0 SD); a total of 11,208 injections were given throughout the study period, and 6 cases (0.05%) of endophthalmitis were observed. Overall, there was a clinical and statistical difference in average Snellen-corrected visual acuity at Injections #2,#3, #4, #5, #6, #10, and #20, as compared with baseline ( P = 0.03, P < 0.01, P = 0.02, P < 0.01, P = 0.01, P = 0.01, P < 0.01, respectively). Patients in the Snellen-corrected visual acuity subgroup 20/20 to 20/40 maintained vision until injection #30. Seven eyes experienced a visually significant submacular hemorrhage. CONCLUSION: This neovascular age-related macular degeneration cohort received on average eight anti-vascular endothelial growth factor injections per year for approximately 8 years; eyes with good (≥20/40) initial baseline vision maintained their visual acuity, whereas those with worse Snellen-corrected visual acuity (≤20/50) had a robust initial improvement that diminished with time. Most patients were maintained on the same initial drug of choice and the rate of endophthalmitis was low.


Assuntos
Endoftalmite , Degeneração Macular , Degeneração Macular Exsudativa , Humanos , Pré-Escolar , Idoso de 80 Anos ou mais , Criança , Inibidores da Angiogênese/uso terapêutico , Ranibizumab/uso terapêutico , Bevacizumab/uso terapêutico , Fator A de Crescimento do Endotélio Vascular , Fatores de Crescimento Endotelial , Estudos Retrospectivos , Injeções Intravítreas , Hemorragia Retiniana/tratamento farmacológico , Degeneração Macular/tratamento farmacológico , Endoftalmite/tratamento farmacológico , Endoftalmite/epidemiologia , Degeneração Macular Exsudativa/diagnóstico , Degeneração Macular Exsudativa/tratamento farmacológico , Resultado do Tratamento
4.
Ophthalmology ; 131(1): 66-77, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37661066

RESUMO

PURPOSE: To report on macular hole repair in macular telangiectasia type 2 (MacTel2). DESIGN: Global, multicenter, retrospective case series. PARTICIPANTS: Patients undergoing surgery for MacTel2-associated full-thickness macular hole (MTMH). METHODS: Standardized data collection sheet distributed to all surgeons. MAIN OUTCOME MEASURES: Anatomic closure and visual outcomes of MTMH. RESULTS: Sixty-three surgeries in 47 patients with MTMH were included from 30 surgeons. Mean age was 68.1 years, with 62% female, 72% White, 21% East or South Asian, 2% African American, and 2% Hispanic or Latino. Procedures included 34 internal limiting membrane (ILM) peeling alone, 22 ILM flaps, 5 autologous retinal transplantations (ARTs), 1 retinotomy, and 1 subretinal bleb. For ILM peeling, preoperative visual acuity (VA) was 0.667 ± 0.423 logarithm of the minimum angle of resolution (logMAR). Minimum hole diameter (MHD) was 305.5 ± 159.4 µm (range, 34-573 µm). Sixteen of 34 ILM peels (47%) resulted in MTMH closure. At postoperative month 6, VA was stable at 0.602 ± 0.516 logMAR (P = 0.65). VA improved by at least 2 lines in 43% and at least 4 lines in 24%. For ILM flaps, preoperative VA was 0.878 ± 0.552 logMAR. MHD was 440.8 ± 175.5 µm (range, 97-697 µm), which was significantly larger than for ILM peels (P < 0.01). Twenty of 22 ILM flaps (90%) resulted in MTMH closure, which was significantly higher than for ILM peels (P < 0.01). At postoperative month 6, VA improved to 0.555 ± 0.405 logMAR (P < 0.05). VA improved by at least 2 lines in 56% and at least 4 lines in 28%. For ARTs, preoperative VA was 1.460 ± 0.391 logMAR. MHD was 390.2 ± 203.7 µm (range, 132-687 µm). All 5 ARTs (100%) resulted in MTMH closure. At postoperative month 6, VA was stable at 1.000 ± 0.246 logMAR (P = 0.08). Visual acuity improved at least 2 lines in 25%. CONCLUSIONS: Surgical closure of macular holes improved VA in 57% of MTMHs. Internal limiting membrane flaps achieved better anatomic and functional outcomes than ILM peeling alone. Autologous retinal transplantation may be an option for refractory MTMHs. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.


Assuntos
Membrana Epirretiniana , Perfurações Retinianas , Telangiectasia Retiniana , Humanos , Feminino , Idoso , Masculino , Vitrectomia/métodos , Estudos Retrospectivos , Retina , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/cirurgia , Telangiectasia Retiniana/complicações , Membrana Basal/cirurgia , Tomografia de Coerência Óptica , Resultado do Tratamento , Membrana Epirretiniana/cirurgia
5.
Ophthalmic Surg Lasers Imaging Retina ; 54(12): 701-712, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38113364

RESUMO

Michael T. Trese, MD (1946-2022), a vitreoretinal surgeon, made significant contributions to the field of retina. Although most known for his work in pediatric retina surgery, he was a pioneer in areas such as medical retina, translational research, and telemedicine. This article reviews his major contributions to spread his knowledge more widely to vitreoretinal trainees and specialists. We discuss six areas where Trese made a lasting impact: lens-sparing vitrectomy, familial exudative vitreoretinopathy, congenital X-linked retinoschisis, autologous plasmin enzyme, regenerative medicine, and telemedicine. [Ophthalmic Surg Lasers Imaging Retina 2023;54:701-712.].


Assuntos
Bolsas de Estudo , Retinosquise , Masculino , Criança , Humanos , Retina/cirurgia , Vitreorretinopatias Exsudativas Familiares/cirurgia , Corpo Vítreo , Retinosquise/cirurgia , Vitrectomia/métodos
6.
Artigo em Inglês | MEDLINE | ID: mdl-38016107

RESUMO

PURPOSE: To report a case of a patient who suffered a full thickness macular hole (FTMH) due to the accidental utilization of the selective laser trabeculoplasty (SLT) mode of a dual mode laser. METHOD: Case report. RESULTS: A 69-year-old woman experienced vision loss in her left eye immediately after undergoing attempted Neodymium:yttrium-aluminum-garnet (Nd:YAG) capsulotomy using a Nd:YAG-SLT laser system. Post-injury visual acuity was 20/25 and 20/800 in the right and left eyes, respectively. Ophthalmic exam and multimodal imaging revealed multiple macular hemorrhages and an irregular FTMH. The patient required multiple surgeries including an autologous retinal transplant to achieve hole closure. CONCLUSIONS: Macular hole formation is a devastating consequence of inadvertent use of the SLT mode when performing a Nd:YAG laser capsulotomy with a Nd:YAG-SLT laser system. We emphasize the importance of ensuring the correct mode is selected for treatment to minimize the risk of retinal damage and permanent vision loss.

7.
Ophthalmol Retina ; 2023 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-37838276

RESUMO

PARTICIPANTS: This article includes 7293 infants (14 586 eyes) screened for ROP across 5 centers in the United States (Austin Retina Associates, Austin, TX; Bascom Palmer Eye Institute, Miami, FL; Beaumont Eye Institute, Royal Oak, MI; Massachusetts Eye and Ear, Boston, MA; and Stanford Byers Eye Institute, Stanford, CA). PURPOSE: To analyze the incidence and timing of treatment requiring retinopathy of prematurity (ROP) in extremely small premature infants. We hypothesize that the smaller the infant by gestational age and birthweight, the higher their likelihood of requiring treatment for ROP. DESIGN: Premature infants screened for Retinopathy of Prematurity from 2002-2022 were divided into cohorts based on the following criteria based on gestational age (GA) and birth weight (BW). "Micropremature infants" are infants born between 24-26 weeks GA and between 600-799 g BW. "Nanopremature infants" are born ≤ 24 weeks GA and ≤ 600 g BW. METHODS: Retrospective chart review. MAIN OUTCOME MEASURES: The incidence and timing of treatment-requiring ROP. RESULTS: We found that infants defined as nanopremature had a ∼63% chance of requiring treatment at an average postmenstrual age (PMA) of 36.6 weeks, whereas those defined as micropremature had a 30% chance of requiring treatment at an average PMA of 36.3 weeks. This significantly contrasts with the risk of all screened babies for ROP where the risk of requiring treatment was 8.5%. CONCLUSION: Micropremature and nanopremature infants are significantly more likely to require treatment for ROP. With demographic data matched to all 5 major US regions spanning the last decade, these results have the potential to inform neonatologists, pediatricians, and ophthalmologists of an important shift in the landscape of prematurity in the United States. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

8.
J Pers Med ; 13(7)2023 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-37511751

RESUMO

Nowadays, more studies deal with "OrthoGeriatrics", for the co-management of elderly patients suffering fractures, from the admission to the discharge and beyond. For the first time at Cagliari University Hospital, we introduced an orthogeriatric service, in which trained geriatricians stay in orthopedic unit alongside trained orthopedics. The primary aim of the study was to analyze the rate of death and rehospitalization in elderly femur-fractured people of 65 or more years of age, identifying possible predictive factors. The secondary aim of the study was to analyze the recovery of daily living autonomies during the months following surgery. To reach the aim, we designed a prospective study, which is currently ongoing. We evaluated femur-fractured patients aged 65 years or more with a comprehensive geriatric assessment before surgery. The most common fractures were lateral hip ones, treated with osteosynthesis. Cognitive-affective, functional, and nutritional status, mood, and comorbidities were less impaired than in the outpatient service of the same hospital devoted to frail elderly. Pain control was excellent. A significantly low delirium incidence was found. More than a third of the sample were recognized as frail (according to the Survey of Health, Ageing and Retirement in Europe-Frailty Instrument (SHARE-FI)), and over a third of the sample were identified as a moderate-high risk of hospitalization and death (according to Multidimensional Prognostic Index (MPI)). Overall mortality rate was 13.87%, and rehospitalization rate was 11.84%. Frail people were more likely to die than non-frail (HR: 5.64), and pre-frail ones (HR: 3.97); similarly, high-risk patients were more likely to die than low-risk (HR: 8.04), and moderate-risk ones (HR: 5.46). Conversely, neither SHARE-FI nor MPI predicted rehospitalization. Creatinine (OR: 2.66, p = 0.003) and folate (OR: 0.75, p = 0.03) levels were independently associated with death and rehospitalization, respectively. Finally, the patients did recover the lost autonomies later, 6 months after surgery. Our study demonstrated that SHARE-FI and MPI are reliable tools to predict mortality in an orthogeriatric setting, and that creatinine and folate levels should also be measured given their independent association with negative outcomes.

9.
BMJ Open Qual ; 12(1)2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36941011

RESUMO

BACKGROUND: Unplanned extubations are recurrent adverse events in mechanically ventilated children and have been the focus of quality and safety improvement in paediatric intensive care units (ICUs). LOCAL PROBLEM: To reduce the rate of unplanned extubation in the paediatric ICU by 66% (from 2.02 to 0.7). METHODS: This is a quality improvement project that was conducted in a paediatric ICU of a private hospital at the quaternary level. All hospitalised patients who used invasive mechanical ventilation between October 2018 and August 2019 were included. INTERVENTIONS: The project was based on the Improvement Model methodology of the Institute for Healthcare Improvement to implement change strategies. The main ideas of change were innovation in the endotracheal tube fixation model, evaluation of the endotracheal tube positioning, good practices of physical restraint, sedation monitoring, family education and engagement and checklist for prevention of unplanned extubation, with Plan-Do-Study-Act, the tool chosen to test and implement ideas for change. RESULTS: The actions reduced the unplanned extubation rate to zero in our institution and sustained this result for a period of 2 years, totalling 743 days without any event. An estimate was made comparing cases with unplanned extubation and controls without the occurrence of this adverse event, which resulted in savings of R$955 096.65 (US$179 540.41) during the 2 years after the implementation of the improvement actions. CONCLUSION: The improvement project conducted in the 11-month period reduced the unplanned extubation rate to zero in our institution and sustained this result for a period of 743 days. Adherence to the new fixation model and the creation of a new restrictor model, which enabled the implementation of good practices of physical restraint were the ideas of change that had the greatest impact in achieving this result.


Assuntos
Extubação , Melhoria de Qualidade , Criança , Humanos , Extubação/efeitos adversos , Extubação/métodos , Unidades de Terapia Intensiva Pediátrica , Respiração Artificial/efeitos adversos , Intubação Intratraqueal
10.
Retina ; 43(2): 238-242, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36695796

RESUMO

PURPOSE: To report on the feasibility of 27-gauge (G) vitrectomy for pediatric patients. METHODS: This study is an international, multicenter, retrospective, interventional case series. Participants were patients 17 years or younger who underwent 27-G vitrectomy for various indications. RESULTS: The records of 56 eyes from 47 patients were reviewed. Mean age was 5.7 ± 5.2 years. Diagnoses included retinopathy of prematurity (Stages 3 with vitreous hemorrhage, 4A, 4B, and 5), Terson's syndrome, traumatic macular hole, posterior capsular opacification, endophthalmitis, and others. Instruments used were the 27-G infusion, 27-G vitreous cutter, 27-G light pipe, and 27-G internal limiting membrane forceps. Instrument bending was noted in one (1.8%) case. There were no cases with intraoperative complications, infusion issues, or postoperative endophthalmitis. There were 67/145 (46%) sclerotomies that required suturing, of which most (51/145) were sutured out of precaution. There were four cases (7.1%) that required conversion to a larger gauge and three cases (5.3%) that developed postoperative hypotony. Mean visual acuity improved from logarithm of the minimum angle of resolution 1.32 (20/420) to 0.72 (20/105), after a mean follow-up of 125.1 days (P = 0.01). Anatomic success was achieved in 96.4% of eyes after a single surgery. CONCLUSION: Twenty-seven-gauge vitrectomy was safe and feasible in selected pediatric vitreoretinopathies. Further studies are warranted to examine indications and outcomes.


Assuntos
Endoftalmite , Degeneração Retiniana , Cirurgia Vitreorretiniana , Recém-Nascido , Humanos , Criança , Lactente , Pré-Escolar , Vitrectomia , Estudos Retrospectivos , Resultado do Tratamento , Hemorragia Vítrea/cirurgia , Endoftalmite/etiologia , Endoftalmite/cirurgia , Retina , Complicações Pós-Operatórias/cirurgia , Degeneração Retiniana/cirurgia
11.
Ophthalmol Retina ; 7(1): 72-80, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35843486

RESUMO

PURPOSE: To investigate late vitreoretinal complications and visual outcomes in patients with regressed retinopathy of prematurity (ROP) with or without prior treatment. DESIGN: International, multicenter, noncomparative retrospective case series. PARTICIPANTS: We analyzed 264 eyes of 238 patients from 13 centers worldwide who developed vitreoretinal complications (retinal detachment [RD], vitreous hemorrhage [VH], or retinal break) ≥ 2 years after resolution of acute ROP. METHODS: Each participant was assigned to 1 of 3 groups (the RD, VH, and retinal break groups) according to their primary diagnosis. The average age at presentation, visual acuities, refractive error, axial length, gestational age, birth weight, acute ROP classification, prior treatments for acute ROP, postoperative visual acuity (VA), and concomitant eye conditions in the 3 groups were documented and compared. MAIN OUTCOME MEASURES: Clinical features and visual outcomes of late vitreoretinal complications in patients with regressed ROP. RESULTS: A total of 264 eyes of 238 patients were included. The prior acute ROP status was comparable among the 3 groups, except that the VH group had a higher proportion of patients with type 1 ROP (P = 0.03) and prior treatment (P < 0.001) than the other groups. The average age at presentation was earlier in the RD (20.3 ± 15.5 years) and VH (21.4 ± 18.9 years) groups than in the retinal break group (31.9 ± 18.2 years; P < 0.001). The retinal break group had the best presenting best-corrected VA, followed by the RD and VH groups (P < 0.001). Surgical intervention improved VA in both the RD and VH groups (both P < 0.05). The overall trend of VA was the most favorable in the retinal break group, followed by that in the VH and RD groups. Cicatricial changes in the fellow retina were observed in > 90% of patients with unilateral involvement. CONCLUSIONS: Infants with acute ROP remain at a high risk of vision-threatening complications throughout childhood and adulthood. Continual follow-up of patients with ROP is important. When severe complications, such as RD or VH, are detected, timely surgical intervention is necessary to ensure favorable visual outcomes in these patients.


Assuntos
Descolamento Retiniano , Perfurações Retinianas , Retinopatia da Prematuridade , Lactente , Recém-Nascido , Humanos , Adulto , Criança , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Descolamento Retiniano/cirurgia , Perfurações Retinianas/cirurgia , Hemorragia Vítrea/diagnóstico , Hemorragia Vítrea/etiologia , Retinopatia da Prematuridade/complicações , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Seguimentos , Vitrectomia/efeitos adversos , Retina
12.
Br J Ophthalmol ; 107(4): 555-559, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-34815237

RESUMO

BACKGROUND/AIMS: To compare risk factors for poor visual outcomes in patients undergoing primary rhegmatogenous retinal detachment (RRD) repair and to develop a scoring system. METHODS: Analysis of the Primary Retinal detachment Outcomes (PRO) study, a multicentre interventional cohort of consecutive primary RRD surgeries performed in 2015. The main outcome measure was a poor visual outcome (Snellen VA ≤20/200). RESULTS: A total of 1178 cases were included. The mean preoperative and postoperative logMARs were 1.1±1.1 (20/250) and 0.5±0.7 (20/63), respectively. Multivariable logistic regression identified preoperative risk factors predictive of poor visual outcomes (≤20/200), including proliferative vitreoretinopathy (PVR) (OR 1.26; 95% CI 1.13 to 1.40), history of antivascular endothelial growth factor (VEGF) injections (1.38; 1.11 to 1.71), >1-week vision loss (1.17; 1.08 to 1.27), ocular comorbidities (1.18; 1.00 to 1.38), poor presenting VA (1.06 per initial logMAR unit; 1.02 to 1.10) and age >70 (1.13; 1.04 to 1.23). The data were split into training (75%) and validation (25%) and a scoring system was developed and validated. The risk for poor visual outcomes was 8% with a total score of 0, 17% with 1, 29% with 2, 47% with 3, and 71% with 4 or higher. CONCLUSIONS: Independent risk factors were compared for poor visual outcomes after RRD surgery, which included PVR, anti-VEGF injections, vision loss >1 week, ocular comorbidities, presenting VA and older age. The PRO score was developed to provide a scoring system that may be useful in clinical practice.


Assuntos
Descolamento Retiniano , Vitreorretinopatia Proliferativa , Humanos , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/cirurgia , Descolamento Retiniano/etiologia , Retina , Recurvamento da Esclera/efeitos adversos , Corpo Vítreo , Vitreorretinopatia Proliferativa/cirurgia , Vitrectomia/efeitos adversos , Estudos Retrospectivos
14.
J Orthop ; 34: 331-338, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36210959

RESUMO

Background: Fractures of the distal humerus are relatively rare and can be a source of disabling outcomes especially if not properly treated. Therefore, the objective of the treatment must be to obtain a stable synthesis that allows early mobilization, avoiding complications such as muscular hypotonotrophy, joint rigidity or delays in consolidation that may be due to prolonged immobilization of this joint. Although ORIF treatment of these fractures may intuitively appear to be the gold standard, there is still no consensus in the literature on which type of treatment is most suitable. Patients and method: We report in this retrospective case series analysis our experience on 31 elder patients (more than 65 years old), affected by a supra-intercondyloid humerus fracture, treated using a minimal internal fixation with cannulated screws combined with the use of an external articulated elbow fixator. This methodology is less invasive but allows a stable synthesis and an early mobilization.Clinical and radiographic examinations were performed for each patient at 1, 2, 3 and 6 months after surgery. At 6 months the residual joint excursion was evaluated and the data were collected. In addition, at 6 months, each patient underwent three different functional capacity assessment questionnaires: MAYO Elbow Performance score, The Disability of the ARM, Shoulder and Hand Score (QuickDASH) and Oxford Elbow Score. Results: The healing rate was 100% with no cases of non-union, despite the old age of our patients. The average range of motions obtained at 6 months from the surgery was 111° in flexion-extension and 157° in pronation-supination for the patient with an extra-articular fracture, 88° in flexion-extension and 153° in pronation-supination for the patients with a partial articular fracture and 85° in flexion-extension and 149° in pronation-supination for the patients with a complete articular fracture. Our results in the recovery of an arc of motion in flexion-extension are slightly less performing than the results obtained with an ORIF treatment. Indeed, according to literature the mean postoperative flexion arc in an ORIF treatment of distal humerus fractures in adults is 110°.The functional results obtained were satisfactory, with an average score at 6 months from the surgery of 95/100 (Mayo score) for the patients with an extra-articular fracture, 83.3/100 for the patients with a partial articular fracture and 79/100 for the patients with a complete articular fracture. Conclusion: The results obtained, in terms of range of motions, function, pain and healing and complications rate lead us to affirm that, in selected patients, this technique can represent a valid treatment and therefore a valid option that could be considered.

15.
Am J Ophthalmol Case Rep ; 28: 101718, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36247208

RESUMO

Purpose: To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia. Observations: A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine exam. The patient has an unremarkable family history and developmental history. Best corrected visual acuity was 20/25 in both eyes. Optical coherence tomography demonstrated attenuation of the ellipsoid and interdigitation zones. Widefield fundus autofluorescence demonstrated nummular hypo-autofluorescence peripherally in both eyes. Genetic testing revealed a variant originally described as a variant of uncertain significance (VUS) a c. 1775_1814del (p.Glu592Valfs*44) identified in the CHM gene, which was reclassified as pathogenic following segregation analysis. The patient was diagnosed with choroideremia due to a CHM pathogenic variant. Conclusions: The multimodal imaging findings demonstrated here illustrate important clues to the diagnosis of Choroideremia in a simplex male.

16.
Clin Exp Dent Res ; 8(5): 1068-1075, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35698910

RESUMO

OBJECTIVES: To assess the periapical status in patients with osteoporosis (OP) treated with denosumab (D), bisphosphonates (BPs), or not on medication, and to understand if these conditions influence the prevalence and the progression of apical periodontitis (AP). MATERIAL AND METHODS: Seventy-six patients with OP alone or treated with D, or BPs, formed the study group (O), and those from 76 patients matched for age and sex, without diseases, and not taking medications, constituted the control (C) in this retrospective case-control study. The data from the complete clinical and radiographic examination, medical history, decayed, missing, and filled teeth (DMFT), and periapical index score (PAI) were recorded for each patient. Wilcoxon rank test, χ2 , and Student's t test were used as appropriate. RESULTS: The prevalence of AP was similar in O and C. Furthermore, AP was significantly more frequent in root canal-treated teeth in O patients (p = .03). CONCLUSIONS: OP does not appear to be associated with the development of AP. Moreover, the increased prevalence of AP in root canal-treated teeth in O patients highlights a possible relationship between the healing dynamics of the disease post-therapy and the patients' medication. A larger sample is needed to confirm these findings.


Assuntos
Osteoporose , Periodontite Periapical , Estudos de Casos e Controles , Denosumab/uso terapêutico , Difosfonatos/uso terapêutico , Humanos , Osteoporose/complicações , Osteoporose/tratamento farmacológico , Osteoporose/epidemiologia , Periodontite Periapical/complicações , Periodontite Periapical/diagnóstico por imagem , Periodontite Periapical/epidemiologia , Estudos Retrospectivos
17.
Ophthalmol Retina ; 6(12): 1113-1121, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35691580

RESUMO

PURPOSE: To evaluate the prevalence of retinal disease on fluorescein angiography (FA) in patients with incontinentia pigmenti (IP) and to compare the severity of retinal disease in those with and without known central nervous system (CNS) disease. DESIGN: Multi-institutional consecutive retrospective case series. SUBJECTS: New patients with a diagnosis of IP were seen at the Casey Eye Institute at the Oregon Health and Science University (OHSU), Moran Eye Center, University of Utah, or Bascom Palmer Eye Institute, University of Miami from December 2011 to September 2018. METHODS: Detailed ophthalmoscopic examination and FA were recommended for all new patients and performed on every patient who had parental consent. Ophthalmoscopic findings and FA images were graded for severity by 2 masked graders on a 3-point scale: 0 = no disease, 1 = vascular abnormalities without leakage, 2 = leakage or neovascularization, and 3 = retinal detachment. The presence of known CNS disease was documented. Additional cases were obtained from a pediatric retina listserv for examples of phenotypic variation. MAIN OUTCOME MEASURES: The proportion of eyes noted to have disease on ophthalmoscopy compared with FA and the severity of retinal disease in those with and without known CNS disease. RESULTS: Retinal pathology was detected in 18 of 35 patients (51%) by indirect ophthalmoscopy and 26 of 35 patients (74%) by FA (P = 0.048) in a predominantly pediatric population (median age, 9 months). Ten patients (29%) had known CNS disease at the time of the eye examination. A Wilcoxon rank-sum test indicated that the retinal severity scores for patients with CNS disease (median, 2) were significantly higher than the retinal severity scores for patients without CNS disease (median, 1), z = -2.12, P = 0.034. CONCLUSIONS: Retinal disease is present in the majority of patients with IP, and ophthalmoscopic examination is less sensitive than FA for detection of disease. There may be a correlation between the severity of retinal and CNS disease.


Assuntos
Doenças do Sistema Nervoso Central , Incontinência Pigmentar , Doenças Retinianas , Humanos , Criança , Lactente , Incontinência Pigmentar/complicações , Incontinência Pigmentar/diagnóstico , Incontinência Pigmentar/epidemiologia , Prevalência , Estudos Retrospectivos , Doenças Retinianas/diagnóstico , Doenças Retinianas/epidemiologia , Doenças Retinianas/etiologia , Retina , Doenças do Sistema Nervoso Central/complicações
18.
Curr Eye Res ; 47(8): 1209-1217, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35608082

RESUMO

PURPOSE: To determine factors associated with loss of good vision (defined as Snellen visual acuity [VA] < 20/40) after surgery among eyes presenting with macula-on primary rhegmatogenous retinal detachment (RRD) with initial VA ≥20/40. METHODS: Multicenter, retrospective, cohort study of eyes undergoing scleral buckle (SB), pars plana vitrectomy (PPV), or combined pars plana vitrectomy/scleral buckle (PPV/SB) for non-complex macula-on RRD with initial VA ≥20/40. RESULTS: Among 646 eyes with macula-on RRDs with initial VA ≥20/40, 106 (16.4%) had VA <20/40 (i.e. lost good vision) at final follow-up. Eyes losing good vision had slightly worse pre-operative logMAR VA (mean 0.15 ± 0.10 [20/28]) compared to eyes that preserved good vision (mean 0.11 ± 0.10 [20/26]) (p = 0.004). RRDs extending greater than 6 clock-hours were more likely to lose good vision than smaller detachments (multivariate OR 4.57 [95% CI 1.44-14.51]; p = 0.0099). Compared to eyes repaired with SB alone, eyes undergoing PPV (multivariate OR 7.22 [95% CI 2.10-24.90]; p = 0.0017) or PPV/SB (multivariate OR 10.74 [95% CI 3.20-36.11]; p = 0.0001) were each more likely to lose good vision. Eyes requiring further RRD-related (multivariate OR 8.64 [95% CI 1.47-50.66]; p < 0.017) and non-RRD related vitreoretinal surgery (multivariate OR 14.35 [95% CI 5.39-38.21]; p < 0.0001) were more likely to lose good vision. CONCLUSION: Among macula-on RRDs, loss of good vision was associated with worse vision on presentation, vitrectomy-based procedures, greater extent of detachment, and lack of single surgery success. Understanding predictors of visual outcome in macula-on RRD repair may guide pre-operative counseling regarding visual prognosis.


Assuntos
Descolamento Retiniano , Estudos de Coortes , Seguimentos , Humanos , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/cirurgia , Estudos Retrospectivos , Recurvamento da Esclera/métodos , Resultado do Tratamento , Transtornos da Visão , Vitrectomia/métodos
19.
Geriatr Orthop Surg Rehabil ; 13: 21514593221080341, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35360669

RESUMO

Introduction: Periprosthetic femoral fracture around hip arthroplasty are growing in the world, nevertheless management and treatment options for fractures "around the stem" are still debated due to lack of high-level studies. Materials and method: A 85-item survey were fill out by 40 Italian Orthopedic Surgeon member of SIOT (Società Italiana di Ortopedia e Traumatologia) and AIR (Associazione Italiana Riprotesizzazione) to assess their current opinion in the management of type B periprosthetic femoral fractures. Responses were summarized using proportions, and further stratified by practice type, case volume, surgeon age, and fellowship training. Results: Vancouver/UCS fracture classification showed a good interobserver agreement (k value = .76). ORIF were the treatment of choice for UCS type B1 fractures (100%), revision stem for B2 (85%) and B3 (100%). Locked plates were preferred to cable plate and cerclage without a plate for B1 fractures (50% vs 40% vs 10%); revision with modular stem was preferred to monoblock stem for B2 fractures (50% vs 35%) and B3 (75% vs 15%). Responders tended to postpone at 1-month weight-bearing in patients with B1 fractures. Regarding postoperative pharmacological treatment there was absolute lack of consensus. Discussion: The primary finding of our survey confirmed the preference of ORIF for B1 fractures and stem revision for B2 and B3 fractures. However, there is no definitive operative technique for all UCS B fractures. Surgeons tended to favor locked plating over cable plating, although only slightly. This general lack of consensus coincides with the inconclusive evidence that currently exists in the literature, which demonstrates both favorable and unfavorable outcomes for both techniques. Conclusions: The absence of complete homogeneity among participants showed the need for prospective randomized studies to set up stronger guidelines for classification, management, surgical treatment, rehabilitation, and pharmacological support of periprosthetic femoral fractures.

20.
Genes (Basel) ; 13(3)2022 03 11.
Artigo em Inglês | MEDLINE | ID: mdl-35328049

RESUMO

While Inherited Retinal Diseases (IRDs) are typically considered rare diseases, Familial Exudative Vitreo-Retinopathy (FEVR) and Norrie Disease (ND) are more rare than retinitis pigmentosa. We wanted to determine if multigenic protein-altering variants are common in FEVR subjects within a set of FEVR-related genes. The potential occurrence of protein-altering variants in two different genes has been documented in a very small percentage of patients, but potential multigenic contributions to FEVR remain unclear. Genes involved in these orphan pediatric retinal diseases are not universally included in available IRD targeted-sequencing panels, and cost is also a factor limiting multigenic-sequence-based testing for these rare conditions. To provide an accurate solution at lower cost, we developed a targeted-sequencing protocol that includes seven genes involved in Familial Exudative Vitreo-Retinopathy (FEVR) and Norrie disease. Seventy-six DNA samples from persons refered to clinic with possible FEVR and some close relatives were sequenced using a novel Oakland-ERI orphan pediatric retinal disease panel (version 2) providing 900 times average read coverage. The seven genes involved in FEVR/ND were: NDP (ChrX), CTNNB1 (Chr3); TSPAN12 (Chr7); KIF11 (Chr10), FZD4 (Chr11), LRP5 (Chr11), ZNF408 (Chr11). A total of 33 variants were found that alter protein sequence, with the following relative distribution: LRP5 13/33 (40%), FZD4 9/33 (27%), ZNF408 6/33 (18%), (KIF11 3/33 (9%), NDP 1/33 (3%), CTNNB1 1/33 (3%). Most protein-altering variants, 85%, were found in three genes: FZD4, LRP5, and ZNF408. Four previously known pathogenic variants were detected in five families and two unrelated individuals. Two novel, likely pathogenic variants were detected in one family (FZD4: Cys450ter), and a likely pathogenic frame shift termination variant was detected in one unrelated individual (LRP5: Ala919CysfsTer67). The average number of genes with protein-altering variants was greater in subjects with confirmed FEVR (1.46, n = 30) compared to subjects confirmed unaffected by FEVR (0.95, n = 20), (p = 0.009). Thirty-four percent of persons sequenced had digenic and trigenic protein-altering variants within this set of FEVR genes, which was much greater than expected in the general population (3.6%), as derived from GnomAD data. While the potential contributions to FEVR are not known for most of the variants in a multigenic context, the high multigenic frequency suggests that potential multigenic contributions to FEVR severity warrant future investigation. The targeted-sequencing format developed will support such exploration by reducing the testing cost to $250 (US) for seven genes and facilitating greater access to genetic testing for families with this very rare inherited retinal disease.


Assuntos
Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade , Doenças Retinianas , Cegueira/congênito , Criança , Análise Mutacional de DNA , Proteínas de Ligação a DNA/genética , Vitreorretinopatias Exsudativas Familiares/genética , Receptores Frizzled/metabolismo , Doenças Genéticas Ligadas ao Cromossomo X , Humanos , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade/metabolismo , Mutação , Doenças do Sistema Nervoso , Degeneração Retiniana , Doenças Retinianas/metabolismo , Espasmos Infantis , Tetraspaninas/genética , Tetraspaninas/metabolismo , Fatores de Transcrição/genética
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