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1.
Undersea Hyperb Med ; 50(3): 307-312, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37708064

RESUMO

Objective: This study quantifies the change in intraocular pressure (IOP) secondary to wearing neck seals in scuba diving drysuits. Previous work demonstrates significant pressures exerted by these seals; we hypothesize that they would. Methods: IOP was measured in 33 divers before and while wearing a drysuit using rebound tonometry. The drysuit neck seal pressures were measured using a manometer. A paired two-sample t-test was used to compare IOP before and after drysuit donning. Pearson correlation coefficients were calculated between neck sealing pressures and IOP by side. Results: The mean IOP in the right eye was similar pre- and post-drysuit donning, with baseline mean 15.9 mmHg (3.7 mmhg) versus 15.4 mmHG (4.3 mmHg) post-donning, p=0.41. Similarly, the mean IOP in the left eye was also similar, with mean pre-donning IOP 15.6 (3.8 mmHg) versus 15.4 mmHg (4.7 mmHg) post-donning, p=0.75. The mean right and left neck seal pressures were 23.66 (10.60) mmHg and 23.67 (7.87) mmHg, respectively. Only the correlation between right neck sealing pressure for silicone neck seals and right IOP, pre- and post-donning was significant (pre: 0.97, p-value 0.03, post: 0.98, p-value 0.02). Conclusion: No significant difference overall was detected in IOP with drysuit donning.

2.
Mil Med ; 188(3-4): e890-e893, 2023 03 20.
Artigo em Inglês | MEDLINE | ID: mdl-34027971

RESUMO

In this case report, we highlight minocycline-induced scleral hyperpigmentation, combined with ear and fingernail discoloration that developed after over 15 years of use for rosacea in a 78-year-old male with multiple medical comorbidities. Minocycline, a tetracycline antibiotic, is used to treat rosacea and acne as well as some orthopedic infections. It is typically used for extended periods of time; long-term use of minocycline is associated with hyperpigmentation of the sclera, conjunctiva, retina, teeth, skin, subcutaneous fat, oral mucosa, tympanic membrane, and gingiva. This case highlights that hyperpigmentation is more likely to occur in older patients than in younger patients. Scleral hyperpigmentation is not associated with vision loss; however, cosmetic concerns can prompt discontinuation of minocycline. Nonetheless, after cessation, the lesions persist in some patients. Monitoring for hyperpigmentation in patients using minocycline is important, as the hyperpigmentation is more likely to be permanent with long-term use.


Assuntos
Acne Vulgar , Hiperpigmentação , Rosácea , Doenças da Esclera , Masculino , Humanos , Idoso , Minociclina/efeitos adversos , Antibacterianos/efeitos adversos , Hiperpigmentação/induzido quimicamente , Hiperpigmentação/tratamento farmacológico , Hiperpigmentação/patologia , Acne Vulgar/tratamento farmacológico , Doenças da Esclera/induzido quimicamente , Doenças da Esclera/tratamento farmacológico , Rosácea/tratamento farmacológico , Transtornos da Visão
3.
Clin Ophthalmol ; 16: 3681-3687, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36389643

RESUMO

Purpose: To determine if intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections are associated with an increased risk of glaucoma drainage device (GDD) erosions. Patients and Methods: A retrospective chart review was conducted including patients with diabetic retinopathy and had a GDD implanted at a large academic institution. The rate of GDD erosions was compared between eyes that did or did not receive intravitreal anti-VEGF injections. A subanalysis was also performed the relationship between diabetic macular edema (DME) and intravitreal steroid injections and GDD erosions. Results: A total of 677 eyes from 608 patients was included. A total of 447 eyes received at least one anti-VEGF injection; 230 eyes never received such therapy. Twenty eyes (4.5%) receiving anti-VEGF had at least one erosion event, compared to 7 eyes (3.0%) of patients not receiving anti-VEGF therapy (OR 1.49, p=0.37). Diabetic macular edema was associated with a significantly increased rate of erosion in eyes not receiving anti-VEGF (71.4% versus 31.4%, p=0.034), but not in eyes receiving anti-VEGF (30.0% versus 40.7%, p=0.34). Receiving more than one specific anti-VEGF agent, an increased frequency or total number of anti-VEGF injections, or receiving intravitreal steroids were not associated with an increased risk of erosion (p>0.05). Conclusion: In patients with diabetic retinopathy, the use of anti-VEGF does not result in an increased rate of GDD erosions or recurrent erosions. Further research is needed over a longer follow-up period to determine if longer or more frequent anti-VEGF treatment is a risk factor for recurrent erosions.

4.
J Am Coll Surg ; 235(5): 819-825, 2022 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-36102562

RESUMO

Abusive head trauma (AHT) can result in retinal complications that require operative intervention. There is no review evaluating the outcomes of vitreoretinal operations in aggregate or on the timing of vitreoretinal intervention. This systematic review aims to fill this knowledge gap. A literature search between 2011 and 2021 was performed with PubMed, Web of Science, and Embase. Included articles described outcomes of vitreoretinal operations after AHT either in aggregate or as individual cases. Nine articles met criteria; the direct outcomes of operations were collected to minimize bias. Visual acuity (VA) and anatomic outcomes were compared between patients who received operations within 4 weeks of diagnosis and those who had delayed intervention. This review found that vitreoretinal surgery after AHT has excellent anatomical success rates, but there is a trend toward improved VA outcomes when performed within 4 weeks of diagnosis. This highlights the importance of urgent referral to a pediatric retina surgeon for non-clearing vitreous hemorrhage, retinal detachment, and retinal tears after AHT.


Assuntos
Traumatismos Craniocerebrais , Descolamento Retiniano , Criança , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/cirurgia , Humanos , Descolamento Retiniano/complicações , Descolamento Retiniano/cirurgia , Estudos Retrospectivos , Acuidade Visual , Hemorragia Vítrea/complicações , Hemorragia Vítrea/cirurgia
5.
Curr Opin Ophthalmol ; 33(6): 525-531, 2022 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-35819905

RESUMO

PURPOSE OF REVIEW: Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP is crucial to identify ocular abnormalities early and prevent permanent vision loss. RECENT FINDINGS: There have been significant recent advances in ocular diagnostic imaging in IP. Optical coherence tomography (OCT) has helped characterize outer plexiform layer abnormalities in the macula, which can help explain central vision loss in IP patients. OCT angiography (OCT-A) also identifies macular vascular changes that induce these foveal structural abnormalities and may supplement fluorescein angiography, the current standard of care to identify peripheral retinal ischemia and neovascularization for infants with IP. Additionally, recent studies have presented excellent anatomic outcomes years after laser photocoagulation to ischemic retina. Early data indicates that antivascular endothelial growth factor therapy can induce retinal revascularization, but runs the risk of late recurrent neovascularization and requires long-term monitoring. SUMMARY: Ophthalmic imaging is evolving in the evaluation of IP and is increasingly guiding treatment modalities. A particular focus on the ocular manifestations of IP has been the ideal treatment for retinopathy in this disorder.


Assuntos
Incontinência Pigmentar , Doenças Retinianas , Fatores de Crescimento Endotelial , Angiofluoresceinografia/métodos , Humanos , Incontinência Pigmentar/complicações , Incontinência Pigmentar/diagnóstico , Incontinência Pigmentar/terapia , Lactente , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Doenças Retinianas/terapia , Tomografia de Coerência Óptica/métodos
6.
Am J Ophthalmol Case Rep ; 27: 101650, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35845749

RESUMO

Purpose: To report a case of iatrogenic vitrectomy trochar-induced cyclodialysis cleft successfully treated with intraoperative argon endolaser. Observations: A 68-year-old Caucasian male with a history of high myopia underwent pars plana vitrectomy to clear symptomatic vitreous opacities but developed early postoperative hypotony that was recalcitrant to medical management for the first 6 postoperative months. Intraoperative gonioscopy demonstrated a cyclodialysis cleft and argon endolaser was applied to close the cleft. Conclusions and Importance: Endolaser is an effective treatment for cyclodialysis clefts and intraoperative gonioscopy allows direct visualization of the cleft in a controlled operating room setting. Placement of vitrectomy ports should be done with care in high myopes to avoid accidental piercing of the ciliary body and inducing a cyclodialysis cleft.

7.
J Glaucoma ; 31(9): 744-750, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35654366

RESUMO

PRCIS: Bleb-related endophthalmitis (BRE) is a serious complication of glaucoma filtration surgery. The current study reports similar visual and intraocular pressure (IOP) outcomes in eyes treated with pars plana vitrectomy (PPV) compared with vitreous biopsy and injection of intravitreal antibiotics (TI). PURPOSE: The purpose of this study was to investigate the isolated organisms, visual acuity (VA), and IOP outcomes associated with delayed-onset BRE in eyes treated with PPV versus TI. PATIENTS AND METHODS: A retrospective chart review was conducted at the Bascom Palmer Eye Institute (Miami, Florida) and the University of Florida (Gainesville, FL) identifying patients treated for BRE with at least 1 month of follow-up from the inception of an electronic health record (2014 and 2011, respectively) through 2021. All patients had undergone bleb-forming glaucoma surgery at least 1 month before endophthalmitis diagnosis. RESULTS: Thirty-nine eyes from 39 patients (33 from Bascom Palmer, 6 from University of Florida) were included. Trabeculectomy was performed in 34 of 39 eyes (87.2%). Streptococcus species (9 eyes, 23.1%) and Staphylococcus species (8 eyes, 20.5%) were the most common isolated organisms and were similar in both treatment groups ( P =0.49). Baseline VA was worse in the PPV group (logarithm of the minimum angle of resolution: 2.51 vs. 2.16, P =0.04), but VA at last follow-up was similar ( P =0.48) in both groups. After recovery from BRE, the average IOP in the PPV group was 15.1 mm Hg on 0.9 IOP-lowering medications compared with 12.6 mm Hg on 1.2 medications in the TI group (IOP: P =0.56; medications: P =0.80). Additional glaucoma surgery was performed in 44.4% of the PPV eyes and 16.7% of the TI eyes ( P =0.09). CONCLUSION: In eyes with delayed-onset BRE, isolated organisms, visual outcomes, and IOP control were similar after initial PPV compared with TI.


Assuntos
Endoftalmite , Infecções Oculares Bacterianas , Glaucoma , Humanos , Biópsia/efeitos adversos , Endoftalmite/diagnóstico , Endoftalmite/tratamento farmacológico , Endoftalmite/etiologia , Infecções Oculares Bacterianas/diagnóstico , Infecções Oculares Bacterianas/tratamento farmacológico , Infecções Oculares Bacterianas/etiologia , Glaucoma/complicações , Glaucoma/diagnóstico , Glaucoma/cirurgia , Pressão Intraocular , Estudos Retrospectivos , Vitrectomia/efeitos adversos
8.
Diving Hyperb Med ; 52(2): 103-107, 2022 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-35732282

RESUMO

INTRODUCTION: Drysuits use flexible neck and wrist seals to maintain water-tight seals. However, if the seals exert too much pressure adverse physiological effects are possible, including dizziness, lightheadedness, syncope, and paresthesias in the hands. We aimed to quantify the seal pressures of neck and wrist seals in non-immersed divers. METHODS: We recruited 33 diving volunteers at two dive facilities in High Springs, Florida. After a history and physical exam, we measured vital signs as well as wrist and neck seal pressures using a manometer system. RESULTS: The mean (SD) seal pressure of the right wrist seals was found to be 38.8 (14.9) mmHg, while that of the left wrist seals was 37.6 (14.9) mmHg. The average neck seal pressure was 23.7 (9.4) mmHg. Subgroup analysis of seal material demonstrated higher mean sealing pressure with latex seals compared to silicone; however, this difference was not statistically significant. CONCLUSIONS: Drysuit seal pressures are high enough to have vascular implications and even potentially cause peripheral nerve injury at the wrist. Divers should trim their seals appropriately and be vigilant regarding symptoms of excessive seal pressures. Further research may elucidate if seal material influences magnitude of seal pressure.


Assuntos
Mergulho , Mergulho/fisiologia , Florida , Humanos
9.
J Vitreoretin Dis ; 6(4): 271-277, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-37007918

RESUMO

Purpose: Long-term hydroxychloroquine use can result in irreversible maculopathy and vision loss. New screening guidelines to identify early maculopathy were issued by American Academy of Ophthalmology (AAO) in 2016; however, few studies have evaluated compliance with these updated guidelines. Methods: This cross-sectional study evaluated compliance with hydroxychloroquine maculopathy screening examinations at a large academic institution. Patients seen in the ophthalmology department who were prescribed hydroxychloroquine between 2011 and 2021 were included. This retrospective chart review included patients screened for hydroxychloroquine toxicity between 2011 and 2021. The main outcome measure was compliance with AAO screening guidelines (based on 2011 guidelines for patients screened between 2011 and 2015 and on 2016 guidelines for those screened in 2016 and later). Results: Of the 419 patients included, 239 were evaluated between 2011 and 2015 and 357 between 2016 and 2021. Only 60.7% of patients screened before 2016 met the recommended screening examination frequency, while 40.6% received adequate visual field screenings. Of patients screened after 2016, 55.3% met the recommended examination screening frequency, 46.4% received screening with macula ocular coherence tomography at the recommended interval, and 21.0% received appropriate visual field screening. One third of patients were prescribed higher than the recommended 5 mg/kg/day of hydroxychloroquine. Ten patients developed definite macular toxicity; most had concomitant risk factors for toxicity. Conclusions: Despite clear guidelines set forth by AAO in 2011 and 2016, compliance with screening was suboptimal. Hydroxychloroquine prescribers and eye care providers must collaborate to ensure patients are not overdosed and that they receive appropriate maculopathy screening.

10.
Ophthalmic Res ; 65(2): 229-236, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-33113546

RESUMO

PURPOSE: Retinopathy of prematurity (ROP) is considered a disease of the inner retina; however, there is increasing evidence that demonstrates choroidal vasculature loss in ROP, leading to degeneration of outer retinal function and visual deterioration. Central choroidal thinning is noted in children with history of ROP using optical coherence tomography imaging. This study characterizes the presence and persistence of choroidal loss angiographically in eyes of infants treated with intravitreal bevacizumab (IVB) for stage 3 ROP. METHODS: The fluorescein angiography (FA) images of 62 eyes of 31 infants treated with IVB monotherapy were retrospectively reviewed. The eyes with good quality early-, mid-, and late-phase imaging were included in this study. The presence of choroidal hypofluoresence involving the central and or peripheral retina was noted. In infants with multiple FAs, serial FAs were analyzed for persistence of choroidal hypofluorescence. RESULTS: The mean age and birth weight of infants was 24.4 weeks post-menstrual age and 683 g, respectively. All infants received IVB monotherapy. Twenty-four of 62 angiography images of sufficient quality reviewed showed the presence of choroidal hypofluorescence involving central and peripheral lobular loss in the early phase and its persistence into mid- and late phases. Twelve eyes demonstrated persistent choroidal loss on sequential FA until 3 years chronological age. CONCLUSIONS: The study demonstrates the presence of choroidal vascular loss angiographically both central and peripheral fundus in infants with ROP. It highlights the critical role of choroidal involution in outer retinal function that could affect visual outcomes.


Assuntos
Retinopatia da Prematuridade , Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Angiofluoresceinografia/métodos , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Injeções Intravítreas , Fotocoagulação a Laser , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/tratamento farmacológico , Estudos Retrospectivos
12.
Eye (Lond) ; 35(7): 1850-1858, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33674726

RESUMO

Glaucoma drainage device (GDD)-related endophthalmitis is a devastating complication of device implantation. There are no guidelines in the literature to assist clinicians in deciding if the GDD should be explanted or if patients require pars plana vitrectomy (PPV). This study compares the outcomes of GDD explantation with device retention and also independently compares the outcomes of PPV versus intravitreal antibiotics alone in patients with GDD-related endophthalmitis. A literature search for studies discussing GDD-related endophthalmitis from 2005 to 2019 was performed; 30 articles were included. The visual acuity/anatomical outcomes were compared between GDD explantation and retention, and between patients that received a PPV and those that did not. These outcomes were combined with a medical records review of 13 patients with GDD-related endophthalmitis from an academic institution. A total of 88 eyes were included. 70.5% underwent GDD explantation, while 37.8% received a PPV. GDD explantation was associated with a lower rate of evisceration/enucleation when compared to GDD retention (4.8% versus 19.2%, OR 0.22, 95% CI 0.05-1.01, p = 0.05), but visual acuity outcomes were similar. No eyes that received an immediate vitrectomy became phthisic or required evisceration/enucleation, compared an evisceration/enucleation rate of 15.2% in eyes treated solely with intravitreal antibiotics (OR 1.18, 95% CI 1.04-1.33, p = 0.04). Explantation of the GDD and immediate vitrectomy are both associated with better anatomical outcomes in GDD-related endophthalmitis. Further research is needed to provide more definitive guidelines in the ideal management of these patients.


Assuntos
Endoftalmite , Implantes para Drenagem de Glaucoma , Glaucoma , Endoftalmite/epidemiologia , Endoftalmite/etiologia , Glaucoma/cirurgia , Implantes para Drenagem de Glaucoma/efeitos adversos , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Vitrectomia
13.
Can J Ophthalmol ; 56(3): 171-178, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33011153

RESUMO

OBJECTIVE: Central corneal thickness (CCT) in premature infants is described in racially homogenous populations, and factors affecting CCT in infants are relatively unknown. This study describes CCT in premature infants and its association of steroid and oxygen requirements, gestational age (GA), birth weight (BW), race, and their relationship with CCT and corneal haze. METHODS: CCT measurements of 87 infants/174 eyes screened for retinopathy of prematurity were taken between 30 and 44 weeks of GA. CCT was analyzed using a mixed model for its relationship with BW, GA, race, corneal clarity, steroid, and oxygen use. RESULTS: Average CCT decreased at a rate of 12.3 µm/week. Caucasians had the thickest corneas and Hispanics the thinnest (p < 0.01) at baseline, but the rate of CCT decline varied based on racial/ethnic group (p = 0.079). Infants with BW <1000 g had a higher CCT at baseline, but CCT decreased at a faster rate than infants with higher BW (-13. 4 µm/week vs -9.9 µm/week, p = 0.020). Infants born <27 weeks of GA had higher CCT at baseline, but CCT decreased at faster rate compared with patients born later (-13.3 µm/week vs -10.1 µm/week, p = 0.029). Steroid and oxygen use were not statistically significantly associated with CCT or corneal haze (p > 0.05) CONCLUSIONS: CCT varies by racial group in premature infants. Lower BW and GA are associated with increased CCT at baseline but thin at a faster rate. Average, CCT decreases at a rate of 12.3 µm/week between 30 and 44 weeks GA and averages to 550 µm by 44 weeks GA.


Assuntos
Retinopatia da Prematuridade , Peso ao Nascer , Córnea , Paquimetria Corneana , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Pressão Intraocular , Retinopatia da Prematuridade/diagnóstico
14.
Cureus ; 12(11): e11493, 2020 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-33335822

RESUMO

Tobacco and alcohol dependence are known to cause choroidal neovascularization and toxic optic neuropathy, although these typically occur in isolation. In this case report, we describe a 54-year-old male who presented with a juxtafoveal choroidal neovascular membrane (CNVM) in the left eye. Over the course of the next two years, his vision worsened significantly in both eyes, and he developed decreased color vision and paracentral scotomas. Impaired photoreceptor response was detected on full-field electroretinography in both eyes. MRI of the brain and orbits was normal, and laboratory tests for optic neuropathy were within normal limits, except for highly elevated cotinine and nicotine levels. He was in the habit of chewing tobacco nearly constantly, and he admitted to drinking 15-20 alcoholic beverages per week. He was diagnosed with choroidal neovascularization and optic atrophy due to tobacco and alcohol overuse. The effects of tobacco and alcohol use on the health of the choroidal vasculature and optic nerve are discussed in the article.

15.
Am J Ophthalmol Case Rep ; 20: 100910, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32984651

RESUMO

PURPOSE: To describe the use of laser iridoplasty to release iris incarceration occluding a glaucoma drainage device. OBSERVATIONS: A 46-year-old male with uncontrolled type 1 diabetes mellitus presented with neovascular glaucoma and subsequently had a glaucoma drainage device implanted for control of intraocular pressure. One month post-operatively, he presented with a significantly elevated intraocular pressure, thought to be due to poor drainage from iris incarceration in the device. He had recently developed a vitreous hemorrhage and hyphema, and he had florid neovascularization of the iris, thus raising concern that traditional neodymium:yttrium-aluminum-garnet (Nd:YAG) iridotomy would promote re-formation of the hyphema. Thus, a diode solid-state laser iridoplasty was performed around the site of incarceration, resulting in successful release of the iris from the device without hyphema formation. CONCLUSIONS AND IMPORTANCE: Glaucoma drainage devices are effective tools to help control intraocular pressure. However, they risk post-operative complications, such as iris incarceration within the device, that prevents them from functioning properly. In such cases, Nd:YAG laser iridotomy is often used around the site of incarceration, thus releasing it from the device. In this case report, we describe how diode solid-state laser can be used to release the iris incarceration via iridoplasty. Such iridoplasty may result in a decreased likelihood of hyphema formation as compared to Nd:YAG iridotomy, so this provides a superior alternative in patients with a propensity for developing a hyphema, such as in patients with iris neovascularization.

16.
Expert Opin Ther Targets ; 24(6): 535-544, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32249641

RESUMO

Introduction: Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) is a key regulator of the peptide repertoire displayed by Major Histocompatibility Complex I (MHC I) to circulating CD8 + T cells and NK cells. Studies have highlighted the essential requirement for the generation of stable peptide MHC I in regulating both innate and adaptive immune responses in health and disease.Areas covered: We review the role of ERAP1 in peptide trimming of N-terminally extended precursors that enter the ER, before loading on to MHC I, and the consequence of loss or downregulation of this activity. Polymorphisms in ERAP1 form multiple combinations (allotypes) within the population, and we discuss the contribution of this ERAP1 variation, and expression, on disease pathogenesis, including the resulting effect on both innate and adaptive immunity. We consider the current efforts to design inhibitors based on approaches using rational design and small molecule screening, and the potential effect of pharmacological modulation on the treatment of autoimmunity and cancer.Expert opinion: ERAP1 is fundamental for the regulation of immune responses, through generation of the presented peptide repertoire at the cell surface. Modulation of ERAP1 function, through design of inhibitors, may serve as a vital tool for changing immune responses in disease.


Assuntos
Aminopeptidases/antagonistas & inibidores , Desenho de Fármacos , Terapia de Alvo Molecular , Imunidade Adaptativa , Aminopeptidases/genética , Aminopeptidases/metabolismo , Animais , Doenças Autoimunes/tratamento farmacológico , Doenças Autoimunes/imunologia , Humanos , Imunidade Inata , Antígenos de Histocompatibilidade Menor/genética , Antígenos de Histocompatibilidade Menor/metabolismo , Neoplasias/tratamento farmacológico , Neoplasias/imunologia
18.
Clin Case Rep ; 5(1): 66-68, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28096993

RESUMO

We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.

19.
J Ophthalmol ; 2016: 4978973, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27999681

RESUMO

Traumatic retinal detachments are a significant cause of morbidity. There are currently no evidence-based guidelines on the appropriate time to perform vitreoretinal surgery to repair a traumatic retinal detachment. Early intervention, within seven days of the inciting trauma, may decrease proliferative vitreoretinopathy and postoperative endophthalmitis. Later intervention may yield a reduced risk of inflammation and hemorrhage, particularly in cases of concomitant open globe injuries. This article reviews the literature on the management of retinal detachments associated with ocular trauma from the years 2006 to 2016. Particular focus was placed on the timing of surgery, concomitant open globe injury, anatomical success rates, visual acuity, and complication rates. In this review, anatomical success was not significantly related to timing of intervention when compared between early and delayed intervention in eyes with and without concomitant open globe injuries. Visual acuities postoperatively varied widely despite timing of intervention due to the large variation in mechanism and extent of ocular injuries. Proliferative vitreoretinopathy was a common complication. Preliminary data indicate that endophthalmitis rates may be lower when early vitreoretinal surgery is performed. There is insufficient data to conclude whether early or delayed surgery leads to improved outcomes, highlighting the need for further research in this domain.

20.
Front Physiol ; 7: 480, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27833563

RESUMO

Background: Germline knockout mice are invaluable in understanding the function of the targeted genes. Sometimes, however, unexpected phenotypes are encountered, due in part to the activation of compensatory mechanisms. Germline ablation of cardiac myosin light chain kinase (cMLCK) causes mild cardiac dysfunction with cardiomyocyte hypertrophy, whereas ablation in adult hearts results in acute heart failure with cardiomyocyte atrophy. We hypothesized that compensation after ablation of cMLCK is dependent on developmental staging and perinatal-onset of cMLCK ablation will result in more evident heart failure than germline ablation, but less profound when compared to adult-onset ablation. Methods and Results: The floxed-Mylk3 gene was ablated at the beginning of the perinatal stage using a single intra-peritoneal tamoxifen injection of 50 mg/kg into pregnant mice on the 19th day of gestation, this being the final day of gestation. The level of cMLCK protein level could no longer be detected 3 days after the injection, with these mice hereafter denoted as the perinatal Mylk3-KO. At postnatal day 19, shortly before weaning age, these mice showed reduced cardiac contractility with a fractional shortening 22.8 ± 1.0% (n = 7) as opposed to 31.4 ± 1.0% (n = 11) in controls. The ratio of the heart weight relative to body weight was significantly increased at 6.68 ± 0.28 mg/g (n = 12) relative to the two control groups, 5.90 ± 0.16 (flox/flox, n = 11) and 5.81 ± 0.33 (wild/wild/Cre, n = 5), accompanied by reduced body weight. Furthermore, their cardiomyocytes were elongated without thickening, with a long-axis of 101.8 ± 2.4 µm (n = 320) as opposed to 87.1 ± 1.6 µm (n = 360) in the controls. Conclusion: Perinatal ablation of cMLCK produces an increase of heart weight/body weight ratio, a reduction of contractility, and an increase in the expression of fetal genes. The perinatal Mylk3-KO cardiomyocytes were elongated in the absence of thickening, differing from the compensatory hypertrophy shown in the germline knockout, and the cardomyocyte thinning shown in adult-inducible knockout.

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