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1.
PLoS Biol ; 21(6): e3002144, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37289745

ABSTRACT

Hosts have evolved diverse strategies to respond to microbial infections, including the detection of pathogen-encoded proteases by inflammasome-forming sensors such as NLRP1 and CARD8. Here, we find that the 3CL protease (3CLpro) encoded by diverse coronaviruses, including Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), cleaves a rapidly evolving region of human CARD8 and activates a robust inflammasome response. CARD8 is required for cell death and the release of pro-inflammatory cytokines during SARS-CoV-2 infection. We further find that natural variation alters CARD8 sensing of 3CLpro, including 3CLpro-mediated antagonism rather than activation of megabat CARD8. Likewise, we find that a single nucleotide polymorphism (SNP) in humans reduces CARD8's ability to sense coronavirus 3CLpros and, instead, enables sensing of 3C proteases (3Cpro) from select picornaviruses. Our findings demonstrate that CARD8 is a broad sensor of viral protease activities and suggests that CARD8 diversity contributes to inter- and intraspecies variation in inflammasome-mediated viral sensing and immunopathology.


Subject(s)
COVID-19 , Picornaviridae , Humans , Inflammasomes/metabolism , Picornaviridae/genetics , Picornaviridae/metabolism , SARS-CoV-2/metabolism , Protease Inhibitors , Apoptosis Regulatory Proteins/metabolism , Neoplasm Proteins/metabolism , CARD Signaling Adaptor Proteins/metabolism
2.
Cryobiology ; 90: 75-82, 2019 10.
Article in English | MEDLINE | ID: mdl-31401082

ABSTRACT

There is a clinical demand for efficient cryopreservation of cloned camel embryos with considerable logistic and economic advantage. Vitrification of in vivo derived embryos has been reported in camels, but there is no study on vitrification of cloned embryos. Moreover, whether characteristic differences between cloned and in vivo derived embryos imply different vitrification requirement is unresolved. Here, we compared survival, re-expansion and pregnancy rates of cloned embryos vitrified using two commercial vitrification kits (Cryotec and Kitazato), developed basically for human embryos, and a vitrification protocol developed for in vivo camel embryos (CVP). Cloned embryos responded dynamically to vitrification-warming steps in commercial kits, with a flat shrinkage in the final vitrification solution and a quick re-expansion to the original volume immediately after transferring to the isotonic warming solution. Contrarily, full shrinkage was not observed in CVP method, and majority of embryos were still collapsed post-warming. The immediate re-expansion was highly associated and predictive of higher survival and total cell number, and also better redox state of embryos vitrified by Cryotec and Kitazato kits compared to CVP method. Importantly, while 30% blastomere loss, verified by differential dye exclusion test, was tolerated in vitrified embryos, >50% blastomeres loss in non-expanded blastocysts implied the minimal essential cell survival rate for blastocoelic cavity re-expansion in vitrified cloned camel blastocysts, irrespective of vitrification method. A protocol-based exposure of embryos to cryoprotectants indicated that cryoprotectant toxicity, per se, may not be involved in lower cryosurvival of embryos in CVP vs. Cryotec and Kitazato. The initial pregnancy rates were numerically higher in Cryotec and Kitazato frozen transfers compared to fresh transfer (56.3, 60 and 33.3%, respectively), and importantly, a higher percentage of established pregnancies in vitrified groups passed the critical 3 months period of early embryonic loss compared to sibling fresh clone pregnancies (50, 40, and 10%, respectively). Results confirmed the suitability of Cryotec and Kitazato kits for vitrification of cloned camel embryos and that vitrification may improve pregnancy outcome by weeding out poor competent embryos.


Subject(s)
Blastocyst/physiology , Cloning, Organism/methods , Cryopreservation/methods , Embryo Transfer/methods , Embryo, Mammalian/cytology , Animals , Blastomeres , Camelus , Cryoprotective Agents/pharmacology , Female , Freezing , Humans , Pregnancy , Pregnancy Outcome , Pregnancy Rate , Vitrification
3.
Int J Biometeorol ; 62(7): 1187-1197, 2018 Jul.
Article in English | MEDLINE | ID: mdl-29546488

ABSTRACT

Vegetation indices are useful tools to remotely estimate several important parameters related to ecosystem functioning. However, improving and validating estimations for a wide range of vegetation types are necessary. In this study, we provide a methodology for the estimation of the leaf area index (LAI) in a tropical dry forest (TDF) using the light diffusion through the canopy as a function of the successional stage. For this purpose, we estimated the K coefficient, a parameter that relates the normalized difference vegetation index (NDVI) to LAI, based on photosynthetically active radiation (PAR) and solar radiation. The study was conducted in the Mata Seca State Park, in southeastern Brazil, from 2012 to 2013. We defined four successional stages (very early, early, intermediate, and late) and established one optical phenology tower at one plot of 20 × 20 m per stage. Towers measured the incoming and reflected solar radiation and PAR for NDVI calculation. For each plot, we established 24 points for LAI sampling through hemispherical photographs. Because leaf cover is highly seasonal in TDFs, we determined ΔK (leaf growth phase) and Kmax (leaf maturity phase). We detected a strong correlation between NDVI and LAI, which is necessary for a reliable determination of the K coefficient. Both NDVI and LAI varied significantly between successional stages, indicating sensitivity to structural changes in forest regeneration. Furthermore, the K values differed between successional stages and correlated significantly with other environmental variables such as air temperature and humidity, fraction of absorbed PAR, and soil moisture. Thus, we established a model based on spectral properties of the vegetation coupled with biophysical characteristics in a TDF that makes possible to estimate LAI from NDVI values. The application of the K coefficient can improve remote estimations of forest primary productivity and gases and energy exchanges between vegetation and atmosphere. This model can be applied to distinguish different successional stages of TDFs, supporting environmental monitoring and conservation policies towards this biome.


Subject(s)
Ecosystem , Plant Leaves , Tropical Climate , Brazil , Environmental Monitoring , Forests , Seasons
4.
Obes Pillars ; 11: 100115, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38983905

ABSTRACT

Introduction: This case study portrays an unusual case of treatment-induced neuropathy of diabetes (TIND) in a patient with uncontrolled type 2 diabetes (T2D) who achieved rapid improvement in glucose control primarily with dietary intervention. Initial presentation was 50-year-old white male with a long-standing history of obesity and a family history of T2D with a screening glucose level >500mg/dL by glucometer, HbA1c of 14.9%, and initial weight 213 lbs. Methods: The initial intervention included a low-carbohydrate diet, metformin, and a continuous glucose monitor (CGM). Semaglutide was added after seven days. Results: His glycemia was within the target range within three weeks. Four weeks after initiation of therapy, he developed TIND symptoms consisting of burning, tightness, and numbness of bilateral feet along with 10/10 pain. At three months, his HbA1c dropped to 6.9% and his weight to 195 lbs. Treatment of his TIND reduced his pain from 10/10 to 2/10. Conclusion: Whereas TIND is commonly associated with the use of insulin or sulfonylureas, this study adds evidence to the paucity of literature regarding TIND precipitated by dietary intervention.

5.
Materials (Basel) ; 17(13)2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38998352

ABSTRACT

Escalating global surface temperatures are highlighting the urgent need for energy-saving solutions. Phase-change materials (PCMs) have emerged as a promising avenue for enhancing thermal comfort in the construction sector. This study assessed the impact of incorporating PCMs ranging from 1% to 10% by mass into composite Portland cement partially replaced by fly ash (FA) and nanosilica particles (NS). Mechanical and electrochemical techniques were utilized to evaluate composite cements. The results indicate that the presence of PCMs delayed cement hydration, acting as a filler without chemically interacting within the composite. The combination of FA and PCMs reduced compressive strength at early ages, while thermal conductivity decreased after 90 days due to the melting point and the latent heat of PCMs. Samples with FA and NS showed a significant reduction in the CO2 penetration, attributed to their pozzolanic and microfiller effects, as well as reduced water absorption due to the non-absorptive nature of PCMs. Nitrogen physisorption confirmed structural changes in the cement matrix. Additionally, electrical resistivity and thermal behavior assessments revealed that PCM-containing samples could reduce temperatures by an average of 4 °C. This suggested that PCMs could be a viable alternative for materials with thermal insulation capacity, thereby contributing to energy efficiency in the construction sector.

6.
Polymers (Basel) ; 16(9)2024 May 03.
Article in English | MEDLINE | ID: mdl-38732749

ABSTRACT

Wounds are breaks in the continuity of the skin and underlying tissues, resulting from external causes such as cuts, blows, impacts, or surgical interventions. Countless individuals suffer minor to severe injuries, with unfortunate cases even leading to death. In today's scenario, several commercial products are available to facilitate the healing process of wounds, although chronic wounds still present more challenges than acute wounds. Nevertheless, the huge demand for wound-care products within the healthcare sector has given rise to a rapidly growing market, fostering continuous research and development endeavors for innovative wound-healing solutions. Today, there are many commercially available products including those based on natural biopolymers, stem cells, and microRNAs that promote healing from wounds. This article explores the recent breakthroughs in wound-healing products that harness the potential of natural biopolymers, stem cells, and microRNAs. A comprehensive exploration is undertaken, covering not only commercially available products but also those still in the research phase. Additionally, we provide a thorough examination of the opportunities, obstacles, and regulatory considerations influencing the potential commercialization of wound-healing products across the diverse markets of Europe, America, and Asia.

7.
J Cell Biol ; 222(4)2023 04 03.
Article in English | MEDLINE | ID: mdl-36729023

ABSTRACT

How cells simultaneously assemble actin structures of distinct sizes, shapes, and filamentous architectures is still not well understood. Here, we used budding yeast as a model to investigate how competition for the barbed ends of actin filaments might influence this process. We found that while vertebrate capping protein (CapZ) and formins can simultaneously associate with barbed ends and catalyze each other's displacement, yeast capping protein (Cap1/2) poorly displaces both yeast and vertebrate formins. Consistent with these biochemical differences, in vivo formin-mediated actin cable assembly was strongly attenuated by the overexpression of CapZ but not Cap1/2. Multiwavelength live cell imaging further revealed that actin patches in cap2∆ cells acquire cable-like features over time, including recruitment of formins and tropomyosin. Together, our results suggest that the activities of S. cerevisiae Cap1/2 have been tuned across evolution to allow robust cable assembly by formins in the presence of high cytosolic levels of Cap1/2, which conversely limit patch growth and shield patches from formins.


Subject(s)
Actin Capping Proteins , Actins , Saccharomyces cerevisiae Proteins , Actin Capping Proteins/metabolism , Actin Cytoskeleton/metabolism , Actins/metabolism , Cytosol/metabolism , Formins/metabolism , Saccharomyces cerevisiae/metabolism , Saccharomyces cerevisiae Proteins/metabolism , CapZ Actin Capping Protein/metabolism
8.
Cureus ; 15(4): e38154, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37252519

ABSTRACT

We report a case of idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome in a patient whose cystoid macular edema (CME) was successfully treated with aflibercept and pan-retinal photocoagulation (PRP). A 56-year-old male was sent to our uveitis service for further evaluation after a fluorescein angiogram revealed symmetric retinal ischemia for 360 degrees in both eyes. A fundus examination revealed an aneurysm, neuroretinitis, and occlusive vasculitis, all consistent with a diagnosis of IRVAN syndrome. An optical coherence tomography examination revealed CME of the left eye. A chest X-ray revealed minimally prominent interstitial markings. The patient had a positive QuantiFERON-TB Gold test and was treated for tuberculosis with a one-year course of isoniazid and pyrimethamine. A further workup for other infectious and autoimmune etiologies was negative. The initial treatment consisted of bilateral PRP of the areas of peripheral ischemia, treatment for which was provided in a fragmented fashion over the course of seven months. Soon after the diagnosis, he received treatment with two intravitreal injections of aflibercept (2 mg/0.5 mL), one month apart, to the left eye. Subsequently, four months following the presentation, he developed CME in the right eye, which was treated with a single intravitreal injection of aflibercept (2 mg/0.5 mL). At his last follow-up visit, four years after the initial presentation, the patient remained asymptomatic with 20/20 visual acuity in both eyes and no evidence of CME recurrence. Our case suggests that aflibercept may serve as an adjuvant to the standard treatment with PRP, especially in cases that present with associated macular edema.

9.
Cureus ; 15(4): e37719, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37206537

ABSTRACT

We report a carrier of Usher syndrome type I with retinitis pigmentosa sine pigmento. A 71-year-old male was referred for further evaluation of severe, progressive, painless vision loss in both eyes over the course of four years. He had bilateral sensorineural hearing loss. Upon a comprehensive examination, his best-corrected visual acuity was 20/100 in the right eye and 20/40 in the left eye. He had an unremarkable anterior segment examination and normal intraocular pressures in both eyes. Upon fundus examination, the patient had pale discs, optic disc cupping, and multiple scattered drusen in the macula and at the midperiphery of both eyes. Optical coherence tomography showed retinal nerve fiber layer thinning in all quadrants. The visual field was severely constricted in both eyes. A comprehensive workup for infectious and inflammatory causes, as well as a brain MRI, was unremarkable. Sequencing analysis showed that he carried a heterozygous pathogenic mutation, USH1C c.672C>A (p.Cys224*) variant. Usher syndrome is a rare genetic disease characterized by hearing loss and retinitis pigmentosa. Our case suggests that patients and carriers of Usher syndrome may have a phenotype compatible with retinitis pigmentosa sine pigmento.

10.
J Cell Biol ; 222(12)2023 12 04.
Article in English | MEDLINE | ID: mdl-37801069

ABSTRACT

Understanding how numerous actin-binding proteins (ABPs) work in concert to control the assembly, organization, and turnover of the actin cytoskeleton requires quantitative information about the levels of each component. Here, we measured the cellular concentrations of actin and the majority of the conserved ABPs in Saccharomyces cerevisiae, as well as the free (cytosolic) fractions of each ABP. The cellular concentration of actin is estimated to be 13.2 µM, with approximately two-thirds in the F-actin form and one-third in the G-actin form. Cellular concentrations of ABPs range from 12.4 to 0.85 µM (Tpm1> Pfy1> Cof1> Abp1> Srv2> Abp140> Tpm2> Aip1> Cap1/2> Crn1> Sac6> Twf1> Arp2/3> Scp1). The cytosolic fractions of all ABPs are unexpectedly high (0.6-0.9) and remain so throughout the cell cycle. Based on these numbers, we speculate that F-actin binding sites are limited in vivo, which leads to high cytosolic levels of ABPs, and in turn helps drive the rapid assembly and turnover of cellular F-actin structures.


Subject(s)
Actins , Microfilament Proteins , Saccharomyces cerevisiae Proteins , Actin Cytoskeleton/metabolism , Actins/metabolism , Microfilament Proteins/metabolism , Saccharomyces cerevisiae/metabolism , Saccharomyces cerevisiae Proteins/metabolism , Cytosol/metabolism
11.
Cureus ; 15(6): e40528, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37461786

ABSTRACT

We report a case of macular telangiectasia type 2 with an associated choroidal neovascular membrane and its treatment. A 54-year-old female presented with a history of gradual vision loss in both eyes. A physical exam showed visual acuity of 20/40 in both eyes and significant metamorphopsia in the right eye. A fundus examination of the right eye was remarkable for right-angled vessels in the juxtafoveal region and subretinal fibrosis temporal to the fovea. A fundus examination of the left eye revealed intraretinal crystals in the juxtafoveal region and right-angled vessels. Optical coherence tomography and angiography confirmed the diagnosis of macular telangiectasia type 2 as well as the presence of a choroidal neovascular membrane in the right eye. The patient was treated with 18 intravitreal injections of anti-vascular endothelial growth factor agent in the right eye for two years, with five to six weeks between each treatment, which resulted in the membrane's stability. Our report suggests that anti-vascular endothelial growth factor therapy via intravitreal injection may be beneficial in treating choroidal neovascular membranes in patients with macular telangiectasia type 2.

12.
Cureus ; 15(7): e42477, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37637556

ABSTRACT

We report on the case of a Hispanic woman with necrobiotic xanthogranuloma (NBX) whose disease was managed based on her symptoms. She underwent a diagnostic and debulking surgical intervention and surveillance for hematologic malignancy. This 56-year-old patient presented with a six-year history of enlarging masses and swelling around her eyes, with intermittent inflammation, associated pain, and occasional redness. Her past medical history was remarkable for asthma and nasal polyps. Upon external examination, she had severe fullness of the upper lids with yellow plaques and palpable masses along them, nontender palpation, the absence of visible erythema, and blepharoptosis in both eyes. The patient presented with bilateral visual field constriction due to mechanical obstruction. An orbital computed tomography scan revealed a dense diffuse lesion involving the pre- and postseptal tissues and invading the orbit of the right eye. A facial magnetic resonance imaging scan revealed infiltration of the postseptal spaces within both orbits. A skin and soft tissue biopsy from the bilateral periorbital regions of both eyes confirmed the diagnosis of NBX. A workup for underlying hematologic malignancies, including plasma cell dyscrasias and lymphoproliferative disorders, was unremarkable. The patient underwent diagnostic and debulking surgery in an attempt to improve her visual function. Subsequently, she was scheduled for ongoing monitoring of her disease progression.

13.
Pathogens ; 12(5)2023 May 03.
Article in English | MEDLINE | ID: mdl-37242344

ABSTRACT

Protein post-translational modifications (PTMs) are an important battleground in the evolutionary arms races that are waged between the host innate immune system and viruses. One such PTM, ADP-ribosylation, has recently emerged as an important mediator of host antiviral immunity. Important for the host-virus conflict over this PTM is the addition of ADP-ribose by PARP proteins and removal of ADP-ribose by macrodomain-containing proteins. Interestingly, several host proteins, known as macroPARPs, contain macrodomains as well as a PARP domain, and these proteins are both important for the host antiviral immune response and evolving under very strong positive (diversifying) evolutionary selection. In addition, several viruses, including alphaviruses and coronaviruses, encode one or more macrodomains. Despite the presence of the conserved macrodomain fold, the enzymatic activity of many of these proteins has not been characterized. Here, we perform evolutionary and functional analyses to characterize the activity of macroPARP and viral macrodomains. We trace the evolutionary history of macroPARPs in metazoans and show that PARP9 and PARP14 contain a single active macrodomain, whereas PARP15 contains none. Interestingly, we also reveal several independent losses of macrodomain enzymatic activity within mammalian PARP14, including in the bat, ungulate, and carnivore lineages. Similar to macroPARPs, coronaviruses contain up to three macrodomains, with only the first displaying catalytic activity. Intriguingly, we also reveal the recurrent loss of macrodomain activity within the alphavirus group of viruses, including enzymatic loss in insect-specific alphaviruses as well as independent enzymatic losses in two human-infecting viruses. Together, our evolutionary and functional data reveal an unexpected turnover in macrodomain activity in both host antiviral proteins and viral proteins.

14.
J Clin Med ; 12(22)2023 Nov 10.
Article in English | MEDLINE | ID: mdl-38002637

ABSTRACT

This study describes a cohort of patients presenting with histocompatibility leukocyte antigen (HLA)-A29-associated retinal vasculitis without choroidal lesions that may share clinical features with birdshot retinochoroiditis. The methods include a retrospective chart review of patients presenting with HLA-A29-associated retinal vasculitis without choroidal lesions. The data on the patients were entered retrospectively into a new database and analyzed. Four patients who had HLA-A29-associated retinal vasculitis without choroidal lesions were identified. The median age at presentation was 40 years (range: 14-71); 75% were female. At presentation, all four patients had a visual acuity of 20/50 or better in both eyes. All the eyes had mild vitritis, three eyes (37.5%) had cystoid macular edema, and two eyes (25%) had optic disc edema. All the patients required treatment with systemic steroids and immunosuppressive therapy. HLA-A29-associated retinal vasculitis without choroidal lesions appears to share many clinical features with birdshot chorioretinitis, including the need for systemic immunosuppressive therapy. Whether this entity represents an early form of birdshot retinochoroiditis or a more localized variant of the disease is a topic for additional studies.

15.
Cureus ; 15(10): e47426, 2023 Oct.
Article in English | MEDLINE | ID: mdl-38022122

ABSTRACT

We report a case of bilateral acute iris transillumination (BAIT) syndrome caused by an overdose of oral moxifloxacin in a Hispanic female patient with no previous respiratory viral infection. A 56-year-old Hispanic female with no history of ocular illness was referred to our glaucoma service to manage her microcystic edema, swelling, and refractory ocular hypertension. Her ocular and systemic symptoms, including progressively worsening bilateral ocular pain, severe photophobia, blurred vision, nausea, and vomiting, started 14 days after an accidental overdose of oral moxifloxacin. Moxifloxacin had been prescribed to treat a complicated urinary tract infection. A slit-lamp examination revealed bilateral microcystic corneal edema and transillumination in the right temporal iris, both consistent with a diagnosis of BAIT syndrome. The existing literature on BAIT syndrome is scarce, and its etiology remains unclear. This case provides clinical evidence supporting moxifloxacin toxicity as a possible cause of BAIT syndrome. We emphasize the importance of conducting extensive research to define the mechanisms involved in moxifloxacin-induced BAIT syndrome and to search for other potential etiologies of this condition.

16.
Ocul Immunol Inflamm ; : 1-6, 2023 Aug 31.
Article in English | MEDLINE | ID: mdl-37652695

ABSTRACT

PURPOSE: To describe the clinical and demographic characteristics and associated factors leading to bilateral acute iris transillumination (BAIT) syndrome. METHODS: A retrospective review of patients with BAIT syndrome was performed. RESULTS: Thirty-five patients with a diagnosis of BAIT were identified. The median age at presentation was 53 years; 80% of the patients were female. Twenty-six patients (74%) had recent histories of systemic antibiotic treatment. Of those with such a history, 24 patients (92%) had been receiving moxifloxacin. Two patients within our cohort were prescribed moxifloxacin prophylactically prior to a systemic surgical procedure and had no evidence of systemic illness or recent viral illness. CONCLUSIONS: Our data support the notion that moxifloxacin might be associated with the onset of BAIT syndrome. Notably, within our cohort, two patients received moxifloxacin as surgical prophylaxis and subsequently developed BAIT syndrome. This could suggest a potential association between moxifloxacin and the onset of BAIT, though further studies are needed to confirm this finding.

17.
J Clin Med ; 12(5)2023 Mar 02.
Article in English | MEDLINE | ID: mdl-36902755

ABSTRACT

(1) Purpose: A patient with scleritis may have an associated systemic disease, which is often autoimmunological and seldom infectious in origin. The data regarding such associations in Hispanic populations are scarce. Therefore, we evaluated the clinical characteristics and systemic-disease associations of a cohort of Hispanic patients with scleritis. (2) Methods: A retrospective review of the medical records (January 1990-July 2021) of two private uveitis practices in Puerto Rico was performed. Clinical characteristics and systemic-disease associations observed either at presentation or diagnosed as a consequence of the initial workup were recorded. (3) Results: A total of 178 eyes of 141 patients diagnosed with scleritis were identified. An associated autoimmune disease was present in 33.3% of the patients (rheumatoid arthritis, 22.7%; Sjögren's syndrome, 3.5%; relapsing polychondritis, 2.8%; sarcoidosis, 1.4%; systemic lupus erythematosus, 1.4%; and systemic vasculitis, 0.7%). An associated infectious disease was present in 5.7% of the patients (2.13%, syphilis; 1.41%, herpes simplex; 1.14%, herpes zoster; and 0.71%, Lyme disease). One patient had all-trans retinoic-acid-associated scleritis. Statistical analysis revealed that patients with nodular anterior scleritis were less likely to have an associated immune-mediated disease (OR: 0.21; p = 0.011). (4) Conclusion: Rheumatoid arthritis was the most common systemic autoimmune disease association, while syphilis was the most common infectious disease associated with scleritis patients. Our study suggests that patients with nodular scleritis have a lower risk of having an associated immune-mediated disease.

18.
Article in English | MEDLINE | ID: mdl-38846011

ABSTRACT

Adolescent mental health is a growing public health issue, with 30% of teens reporting increased stress and 20% of adolescents suffering from depression. Given the scarcity and lack of scalability of mental health services available, the use of self-administered, evidence-based technologies to support adolescent mental health is both timely and imperative. We conducted a mixed-methods pilot study with 31 adolescents ages 14-19 (m = 17.97) to explore the self-administration of a nature-based virtual reality tool. Participant use of the VR environment ranged from 1 to 10 sessions (m = 6.6) at home over a 2-week period while reporting their daily stress and mood levels. All participants completed all of the study protocols, indicating our protocol was feasible and the VR environment engaging. Post-study interviews indicated that most participants found the VR tool to be relaxing and helpful with stress. The themes of Calm Down, Relaxation, and Escape emerged to articulate the participants' experiences using the VR environment. Additionally, participants provided rich data regarding their preferences and activity in the VR environment as well as its effect on their emotional states. Although the sample size was insufficient to determine the impact on depression, we found a significant reduction in momentary stress as a result of using the VR tool. These preliminary data inform our own virtual reality environment design, but also provide evidence of the potential for self-administered virtual reality as a promising tool to support adolescent mental health.

19.
Cureus ; 14(12): e32930, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36699790

ABSTRACT

We report the cases of a father and his daughter, the former diagnosed with retinitis pigmentosa (RP) and the latter with early foveal atrophy; while both shared a novel variant of uncertain significance (VUS) in the ACBD5 gene (variant c.431G>A), they exhibited different clinical profiles and disease manifestations. The father was a 48-year-old man who presented with nyctalopia that had persisted since age seven. He had mild disk pallor, vessel attenuation, retinal pigment epithelium (RPE) changes nasal to the fovea, and few mid-peripheral bone spicules. Sequencing analysis showed that he carried seven VUS in five genes: ACBD5 c.431G>A (p.Gly144Asp), CYP4V2 c.296T>C (p.Met99Thr), EYS c.1852G>A (p.Gly618Ser), HMCN1 c.280G>A (p.Val94Met), HMCN1 c.8939A>C (p.Asn2980Thr), RP1L1 c.575C>A (p.Pro192His), and RP1L1 c.1375A>C (p.Thr459Pro). He shared only the ACBD5 gene with his 18-year-old daughter. The daughter had 20/20 visual acuity, but further testing showed foveal atrophy and hyperautofluorescence. Intrafamilial phenotypic heterogeneity was detected in our patients. Studies on the role of hormonal factors leading to phenotypic variability are warranted.

20.
Cureus ; 14(11): e31287, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36514621

ABSTRACT

We report on a case of central serous chorioretinopathy (CSCR) secondary to chronic steroid use that showed sustained improvement when treated with an aflibercept intravitreal injection. A 44-year-old woman presented with decreased visual acuity of the left eye (OS). The patient had a recent history of myasthenia gravis and was being treated with systemic corticosteroids and immunosuppressants. At presentation, her visual acuity was 20/80 OS; an examination (using fluorescein angiography) of the left fundus revealed a serous retinal detachment of the posterior pole that extended to the mid-periphery and multiple areas of leakage, which findings were consistent with CSCR. The patient also had a history of unresolved strabismic amblyopia in her right eye. The patient's CSCR was managed with one injection of intravitreal aflibercept (2 mg/0.05 mL). One month following treatment, her visual acuity improved to 20/20 OS, and the serous retinal detachment had resolved. Ten months following treatment, an examination revealed a sustained improvement, with a visual acuity of 20/20 OS. Concomitantly, the patient's amblyopic eye revealed an improved visual acuity of 20/20. Our case suggests that some cases of secondary CSCR may respond to treatment with intravitreal aflibercept. This case also suggests that the CSCR imposed a unique form of occlusion therapy that helped improve the amblyopia of the contralateral eye in this adult patient.

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