Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 165
Filter
1.
Int J Ophthalmol ; 17(3): 583-595, 2024.
Article in English | MEDLINE | ID: mdl-38721509

ABSTRACT

Multiple evanescent white dot syndrome (MEWDS) is a rare fundus disease, characterized by acute vision loss and visual field defects. Many previous studies have explained the possible pathogenesis and clinical features of primary MEWDS. However, as the number of reported cases increases, secondary MEWDS occurs in other related retinal diseases and injuries, exhibiting some special characteristics. The associated retinal diseases include multifocal choroiditis/punctate inner choroidopathy (MFC/PIC), acute zonal occult outer retinopathy, best vitelliform macular dystrophy, pseudoxanthoma elasticum, and ocular toxoplasmosis. The related retinal injury is laser photocoagulation, surgery, and trauma. Although primary MEWDS often have a self-limiting course, secondary MEWDS may require treatment in some cases, according to the severity of concomitant diseases and complications. Notably, MEWDS secondary to MFC/PIC that is prone to forming choroidal neovascularization and focal choroidal excavation, needs positive treatment with corticosteroids. The possible underlying pathogenesis of secondary MEWDS is the exposure of choroidal antigen after the disruption of Bruch's membrane. The MEWDS-related features in secondary MEWDS are still evanescent under most circumstances. Its prognosis and treatment depend on the severity of complications. Current studies propose that the etiology is associated with immune factors, including viral infection, inflammation in choroid and Bruch's membrane, and antigen exposure caused by retinal and/or choroidal insults. More pathogenic studies should be conducted in the future. Accurate diagnosis for secondary MEWDS could benefit patients in aspects of management and prognosis.

3.
J Anim Sci Biotechnol ; 15(1): 41, 2024 Mar 08.
Article in English | MEDLINE | ID: mdl-38454493

ABSTRACT

BACKGROUND: The aim of this experiment was to investigate the effect of different levels of betaine (Bet) inclusion in the diet on the intestinal health of growing rabbits under summer heat. A total of 100 weaned Qixing meat rabbits aged 35 d with body weight of 748.61 ± 38.59 g were randomly divided into 5 treatment groups: control group (basal diet) and Bet groups (basal diet + 0.75, 1.0, 1.5 or 2.0 g/kg Bet). The average daily temperature in the rabbitry during the experiment was 30.48 °C and the relative humidity was 69.44%. RESULTS: Dietary addition of Bet had no significant effect on growth performance and health status of growing rabbits (P > 0.05), but it increased ileal secretory immunoglobulin A content compared to the control under summer heat (P < 0.05). Addition of 0.75 g/kg Bet up-regulated jejunal IL-4, down-regulated ileal TNF-α expression (P < 0.05). The addition of 1.0 g/kg Bet increased the villi height (VH) in the jejunum (P < 0.05). Serum glucose levels were reduced, and the expression of SLC6A20 was up-regulated in jejunum and ileum of rabbits fed with 1.5 g/kg Bet (P < 0.05). When added at 2.0 g/kg, Bet reduced serum HSP70 content, increased jejunal VH, and up-regulated duodenal SLC7A6, SLC38A2, mTOR and 4EBP-2 expression (P < 0.05). Correlation analysis revealed that intestinal mTOR expression was significantly and positively correlated with SLC7A6, SLC38A2, SLC36A1 and IL-4 expression (P < 0.05). CONCLUSIONS: Dietary addition of Bet can up-regulate the expression of anti-inflammatory factors through the AAT/mTOR pathway, improve the intestinal immune function, alleviate intestinal damage in growing rabbits caused by summer heat, and improve intestinal health.

4.
Ocul Immunol Inflamm ; 32(3): 351-354, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38330153

ABSTRACT

PURPOSE: The objective of this study is to report a case of unilateral acute retinal necrosis (ARN) with contralateral eye presenting as non-necrotizing herpetic uveitis. CASE REPORTS: Case 1: A 48-year-old female presented at our clinic with blurred vision in the right eye for 7 days. She was diagnosed with ARN in the left eye 2 weeks ago. Ophthalmic examination revealed reduced visual acuity in the right eye (20/33) with the presence of optic disc swelling and macular exudation without peripheral necrotic lesions. With systemic antiviral therapy, optic disc swelling of the right eye vanished gradually, and the visual acuity improved to 20/20. Loss of retinal nerve fiber layer (RNFL) and decreased retinal thickness in the corresponding area occurred during follow-up. CONCLUSION: Non-necrotizing herpetic uveitis may occur in the contralateral eye of unilateral ARN under rare conditions. Structure abnormities, including loss of RNFL and focal decreased retinal thickness, are irretrievable.


Subject(s)
Herpes Simplex , Herpes Zoster Ophthalmicus , Retinal Necrosis Syndrome, Acute , Uveitis , Female , Humans , Middle Aged , Retinal Necrosis Syndrome, Acute/diagnosis , Retinal Necrosis Syndrome, Acute/drug therapy , Uveitis/complications , Uveitis/diagnosis , Uveitis/drug therapy , Herpes Simplex/complications , Herpes Simplex/diagnosis , Herpes Simplex/drug therapy , Retina , Herpes Zoster Ophthalmicus/complications , Herpes Zoster Ophthalmicus/diagnosis , Herpes Zoster Ophthalmicus/drug therapy
5.
BMJ Open ; 14(2): e080066, 2024 Feb 06.
Article in English | MEDLINE | ID: mdl-38320844

ABSTRACT

OBJECTIVES: Emmetropia depends on the precise coordination of ocular biometry, including axial length (AL), corneal curvature, lens thickness and anterior chamber depth (ACD). Disruption of this coordination leads to refractive errors such as myopia. This article aimed to determine the factors affecting ocular biometry and myopia development in young children. DESIGN: A cross-sectional study. SETTING: This study was conducted in a primary school in the Yanqing district of Beijing, China. PARTICIPANTS: 792 students in grades 1-3 without hyperopia (>+2.00 D), strabismus, or amblyopia were selected. EXCLUSIONS: students had conditions affecting best corrected visual acuity and whose guardians refused to provide informed consent. Ocular biometric measurements and non-cycloplegia autorefraction were performed. The questionnaire addressed factors such as perinatal factors and environmental factors. INTERVENTIONS: None. PRIMARY AND SECONDARY OUTCOMES: Ocular biometry and myopia. RESULTS: According to the multivariate logistic regression analysis, electronic screen use >2 hours/day (OR=2.175, p=0.013), paternal myopia (OR=1.761, p=0.002), maternal myopia (OR=1.718, p=0.005), taller height (OR=1.071, p<0.001), maternal education (OR=0.631, p=0.012) and maternal gestational hypertension (OR=0.330, p=0.042) were associated with myopia. AL was affected by female sex (OR=0.295, p<0.001), older age (OR=1.272, p=0.002) and taller height (OR=1.045, p<0.001). Female sex (OR=0.509, p<0.001), taller height (OR=1.046, p<0.001), use of electronic screens >2 hours each day (OR=3.596, p<0.001) and time spent outdoors >2 hours each day (OR=0.431, p=0.001) influenced ACD incidence. Central corneal thickness (CCT) was associated with older age (OR=1.113, p=0.008), paternal education (OR=1.474, p=0.007), premature birth (OR=0.494, p=0.031), history of blue light therapy in infancy (OR=0.636, p=0.041) and history of incubator therapy in infancy (OR=0.263, p=0.009). Only sex influenced corneal curvature. CONCLUSIONS: The factors associated with myopia were partly related to ACD and AL, and perinatal factors were associated with myopia and CCT. TRIAL REGISTRATION NUMBER: ChiCTR2200065398.


Subject(s)
Myopia , Refraction, Ocular , Child , Humans , Female , Child, Preschool , Cross-Sectional Studies , Myopia/epidemiology , Myopia/etiology , China/epidemiology , Biometry
6.
Photodiagnosis Photodyn Ther ; 46: 104008, 2024 Feb 09.
Article in English | MEDLINE | ID: mdl-38340885

ABSTRACT

BACKGROUND: Condyloma acuminatum (CA) of the vagina is a sexually transmitted disease due to infection by human papilloma virus (HPV). The treatment efficacy of the conventional methods for vaginal CA is often unsatisfactory with a high recurrence rate. Topical 5-aminolevulinic acid-mediated photodynamic therapy (ALA-PDT) combined with CO2 laser pretreatment is a feasible approach for vaginal CA, but the effectiveness and safety need further evaluation. METHODS: This study enrolled 15 patients with vaginal CA. All patients underwent CO2 laser ablation and then ALA-PDT for two or three cycles. The clinical efficacy and side effects were evaluated and analyzed during the treatment and 6 months after the treatment. RESULTS: The wart lesions in 4 cases (26.7 %) disappeared after the first treatment. The wart lesions in 5 cases (33.3 %) disappeared after the second treatment. And 6 cases (40 %) needed three treatment cycles before the lesions disappeared completely. The complete response (CR) rate was 93.3 % (14/15) at 2 weeks after three treatment cycles. There were 5 cases (83.3 %) which have complete remission after 2 treatments in warts diameter <1 cm group. There were only 4 cases (44.4 %) which have complete remission after 2 treatments in diameter>1 cm group. All patients had CR without reoccurrence at 6 months after treatment. The side effects mainly included a mild or moderate burning or stinging sensation (26.7 %). There were no infection, ulcers and scars after treatment. CONCLUSION: Topical 5-aminolevulinic acid-mediated photodynamic therapy combined with CO2 laser pretreatment is a safe and effective treatment for vaginal CA.

7.
Retina ; 2024 Jan 08.
Article in English | MEDLINE | ID: mdl-38194674
8.
BMC Ophthalmol ; 24(1): 3, 2024 Jan 02.
Article in English | MEDLINE | ID: mdl-38166867

ABSTRACT

BACKGROUND: Multiple evanescent white dot syndrome (MEWDS)-like features is a rare condition triggered by a macular disease or iatrogenic injury, exhibiting MEWDS changes in the fundus. This study aims to describe the multimodal imaging features and outcomes of multifocal choroiditis/punctate inner choroidopathy (MFC/PIC) lesions with MEWDS-like features. METHODS: Six cases were studied retrospectively. All cases were given regional and oral corticosteroids. RESULTS: All cases showed an isolated juxtafoveal yellowish-white MFC/PIC lesion with disruption of RPE-Bruch's membrane-choriocapillaris complex (RPE-BM-CC), subretinal hyperreflective materials and choroidal thickening on optical coherence tomography. Two weeks after presentation, the grayish-white dots disappeared spontaneously and the corticosteroids were given. After four weeks, the ellipsoid zone (EZ) around the lesion and hyper-autofluorescence resolved. After 13 weeks, five cases showed shrinkage of the juxtafoveal lesion and restoration of foveal EZ. After six months, the juxtafoveal lesion became pigmented. Only one case developed type 2 choroidal neovascularization. CONCLUSIONS: The clinical course of MEWDS-like manifestations is still evanescent in our cases. The yellowish-white juxtafoveal MFC/PIC lesions with disruption of RPE-BM-CC and choroidal thickening showed a well-controlled prognosis after corticosteroid treatment.


Subject(s)
Choroiditis , White Dot Syndromes , Humans , Multifocal Choroiditis , Retrospective Studies , Choroiditis/diagnosis , Choroiditis/drug therapy , White Dot Syndromes/diagnosis , Adrenal Cortex Hormones/therapeutic use , Multimodal Imaging/methods , Fluorescein Angiography/methods , Tomography, Optical Coherence/methods
9.
Mar Pollut Bull ; 199: 116000, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38171166

ABSTRACT

Anthropogenic nitrate (NO3-) production has been increasing and is exported to the ocean via river networks, causing eutrophication and ecological damage. While studies have focused on river NO3- pollution, what has been lacking is the quantification of the sources of NO3- in coastal rivers. This study applied the dual isotopes (δ15N/δ18O-NO3-) to quantify the sources and their fluxes of NO3- in two inflow rivers of the Qinzhou Bay. By adding our results to the NO3- source apportionment in Qinzhou Bay, we, for the first time, established the NO3- budgets of the terrestrial-to-marine continuum in both high- and low-flow seasons. We quantitatively showed the direct and indirect roles (e.g., the stimulation of nitrification by sewage ammonium-NH4+) of terrestrial sources in driving the high NO3- loading in the estuary. The results highlighted the necessity to consider coastal rivers and estuary as a whole, which could shed light on the effective reduction of NO3- pollution in coastal environments.


Subject(s)
Nitrates , Water Pollutants, Chemical , Nitrates/analysis , Nitrogen Isotopes/analysis , Markov Chains , Environmental Monitoring/methods , Water Pollutants, Chemical/analysis , Sewage , China , Rivers , Nitrogen/analysis , Bayes Theorem
10.
Am J Case Rep ; 24: e941627, 2023 Dec 09.
Article in English | MEDLINE | ID: mdl-38069462

ABSTRACT

BACKGROUND Gitelman syndrome (GS) is a rare inherited autosomal recessive salt-losing renal tubulopathy. Early-onset GS is difficult to differentiate from Bartter syndrome (BS). It has been reported in some cases that cyclooxygenase (COX) inhibitors, which pharmacologically reduce prostaglandin E2(PGE2) synthesis, are helpful for GS patients, especially in children, but the long-term therapeutic effect has not yet been revealed. CASE REPORT A 4-year-old boy was first brought to our hospital for the chief concern of short stature and growth retardation. Biochemical tests demonstrated severe hypokalemia, hyponatremia, and hypochloremic metabolic alkalosis. The patient's serum magnesium was normal. He was diagnosed with BS and treated with potassium supplementation and indomethacin and achieved stable serum potassium levels and slow catch-up growth. At 11.8 years of age, the patient showed hypomagnesemia and a genetic test confirmed that he had GS with compound heterozygous mutations in the SLC12A3 gene. At the age of 14.8 years, when indomethacin had been taken for nearly 10 years, the boy reported having chronic stomachache, while his renal function remained normal. After proton pump inhibitor and acid inhibitor therapy, the patient's symptoms were ameliorated, and he continued to take a low dose of indomethacin (37.5 mg/d divided tid) with good tolerance. CONCLUSIONS Early-onset GS in childhood can be initially misdiagnosed as BS, and gene detection can confirm the final diagnosis. COX inhibitors, such as indomethacin, might be tolerated by pediatric patients, and long-term therapy can improve the hypokalemia and growth retardation without significant adverse effects.


Subject(s)
Bartter Syndrome , Gitelman Syndrome , Hypokalemia , Adolescent , Child , Child, Preschool , Humans , Male , Bartter Syndrome/genetics , China , Gitelman Syndrome/diagnosis , Gitelman Syndrome/drug therapy , Gitelman Syndrome/genetics , Growth Disorders/complications , Hypokalemia/drug therapy , Hypokalemia/etiology , Indomethacin/therapeutic use , Potassium , Solute Carrier Family 12, Member 3/genetics , Solute Carrier Family 12, Member 3/metabolism
11.
Ophthalmol Retina ; 2023 Nov 30.
Article in English | MEDLINE | ID: mdl-38040056

ABSTRACT

PURPOSE: To describe the clinical features and outcomes of vitreoretinal lymphoma (VRL) with intraretinal infiltration, a pseudonecrotic variant. DESIGN: Retrospective, comparative analysis. SUBJECTS: Patients with biopsy-proven VRL at a single center from August 2016 to April 2022. METHODS: A retrospective record review was conducted for clinical, imaging, and laboratory data. MAIN OUTCOME MEASURES: Clinical features, visual, and survival outcomes. RESULTS: We included 67 eyes of 40 patients with biopsy-proven VRL. Pseudonecrotic retinal lesions (PRLs) were found in 24 (35.8%) eyes of 19 patients; these eyes were classified as a pseudonecrotic variant, whereas the remaining 43 (64.2%) eyes were classified as nonnecrotic. Comparison (pseudonecrotic vs. nonnecrotic) revealed that eyes with PRLs at presentation had a worse median best-corrected visual acuity (BCVA; 2.4 vs. 0.5 logarithm of the minimum angle of resolution [logMAR], P < 0.0001) and severe ocular manifestations (P < 0.0001), including optic disc swelling (79.2% vs. 0%), retinal vasculitis (93.8% vs. 4.7%), retinal hemorrhage (83.3% vs. 0%), and retinal detachment (RD) (79.2% vs. 0%). Follow-up data were available for 20 eyes (17 patients) in the pseudonecrotic group and 43 eyes (21 patients) in the nonnecrotic group. An equally worse median BCVA was noted in pseudonecrotic eyes at 6 months after treatment and the final follow-up as compared with nonnecrotic eyes (2.4 vs. 0.3 logMAR, P < 0.0001). The median follow-up period did not differ significantly (16.6 vs. 18.4 months, P = 0.47). Initial BCVA (ß = 0.300, P = 0.003), presence of anterior chamber cell (ß = 0.472, P = 0.013), and RD (ß = 1.137, P < 0.0001) were significantly associated with poor visual outcomes in multivariate linear regression analysis (adjusted R2 = 0.693). There were no significant differences in survival outcomes. CONCLUSION: Vitreoretinal lymphoma can present as pseudonecrotic retinopathy, with more advanced clinical presentations and worse final visual outcomes. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

12.
Br J Ophthalmol ; 2023 Nov 14.
Article in English | MEDLINE | ID: mdl-37963713

ABSTRACT

PURPOSE: To qualitatively and quantitatively characterise the genotypes and phenotypes of Bietti's crystalline dystrophy (BCD) in a cohort of patients. DESIGN: Cross-sectional and observational study. METHODS: Clinically confirmed BCD patients were recruited for genotyping and phenotyping. Multiple retinal imaging modalities were employed. Atrophy in the fovea was adopted as major consideration for staging strategy, while percentage area of autofluorescence (AF) atrophy (PAFA) in the macula was determined for quantitation. RESULTS: In 74 clinically diagnosed BCD patients, c.802-8_810del17insGC was shown the predominant variant of the CYP4V2 gene (allele frequency 55.4%). Sixty-two cases (123 eyes) with full imaging data were classified according to a modified criterion into stages 1 (n=8, 6.50%), 2A (n=9, 7.32%), 2B (n=17, 13.82%), 3A (n=30, 24.39%) and 3B (n=59, 47.97%). The eyes of the stage 2B were particularly deemed 'high risk' due to atrophy near fovea, while in stage 3A, though with remarkable foveal atrophy, preserved retinal pigment epithelium/photoreceptor islands near the fovea were found in 14 eyes. A tendency of increase in PAFA with age was found (rs=0.31, p=0.014). Significant PAFA increase was shown through stages 1 to 3B, and best-corrected visual acuity (BCVA, Logarithm of the Minimum Angle of Resolution) was shown to moderately correlate with PAFA (rs=0.56, p<0.001). CONCLUSION: The PAFA might be an efficient biomarker for BCD severities correlating with BCVA. The highly heterogeneous chorioretinopathy and BCVA of BCD cases appear to be associated with disease stages, progression types and patients' ages. Foveal involvement should be of a major concern for consideration of potential therapeutic intervention.

13.
BMC Ophthalmol ; 23(1): 477, 2023 Nov 22.
Article in English | MEDLINE | ID: mdl-37993841

ABSTRACT

BACKGROUND: Vitreoretinal lymphoma (VRL) is usually treated with a combination of intraocular methotrexate (ioMTX), high-dose intravenous methotrexate (HD-MTX), or local radiotherapy (RT) as the first options. The effectiveness and safety of monotherapy like bruton's tyrosine kinase inhibitors (BTKi) for PVRL remain uncertain. METHODS: A systematic review and meta-analysis of clinical trial data and conference abstracts in VRL patients treated with first-line combination therapy or monotherapy were conducted through a search of PubMed, Embase, and Scopus databases until December 2022. A total of 24 studies comprising 517 patients were included, and survival data were extracted from 279 patients due to inconsistent units across studies. RESULTS: The combined treatment group used ioMTX + chemotherapy (in 4 studies), RT + chemotherapy (in 2 studies), ioMTX/HD-MTX based regimen (in 2 studies), ioMTX + RT + chemotherapy (in 2 studies), ioMTX + lenalidomide/BTKi (in 2 studies) and combination of multiple therapies (in 7 studies). The monotherapy group was mainly treated with oral monotherapies such as BTKi. The combination therapy had a higher overall response rate (ORR) and complete response rate (CRR) than monotherapy (ORR: 96% vs. 72%, CRR: 92% vs. 63%). Combination therapy also resulted in a longer median progression-free survival (28.8 months vs. 13 months, p = 0.012). However, the combination therapy group had more severe side effects (grade 3/4 toxicity) than the monotherapy group (45% vs. 8%). CONCLUSION: The study showed combination therapy had better OR and CR rates, longer survival, and more toxicity than monotherapy. While BTK inhibitors were well-tolerated, long-term effectiveness needs confirmation from prospective studies. In addition, given the small number of studies of monotherapy for VRL, more studies are needed to validate its effects. TRIAL REGISTRATION: CRD42023400305.


Subject(s)
Central Nervous System Neoplasms , Lymphoma , Retinal Neoplasms , Humans , Methotrexate/therapeutic use , Retinal Neoplasms/drug therapy , Prospective Studies , Vitreous Body , Central Nervous System Neoplasms/drug therapy , Lymphoma/drug therapy
14.
Front Psychiatry ; 14: 1223895, 2023.
Article in English | MEDLINE | ID: mdl-37779617

ABSTRACT

Background: It has been suggested that healthcare workers (HCWs) are experiencing massive stressors that threaten their mental health during the COVID-19 pandemic, but little is known about their attitudes and intentions toward seeking professional psychological help. This study aimed to investigate the attitudes and intentions of Chinese HCWs toward seeking professional psychological help during the COVID-19 pandemic and the associated factors. Methods: A total of 1,224 Chinese HCWs working in hospitals were recruited online from 12 hospitals in Hunan province in China for a survey conducted in November 2022. The Chinese version of the attitudes toward seeking professional psychological help scale-short form (ATSPPH-SF) and the general help-seeking questionnaire (GHSQ) were separately used to assess the attitudes and intentions of the respondents toward seeking professional psychological help. Demographic and socio-psychological data were collected using a self-developed questionnaire, the perceived social support scale, the self-stigma of seeking help scale, and the patient health questionnaire-9 scale. Results: The 1,208 HCWs in the final analysis showed relatively negative attitudes and low intentions toward seeking professional psychological help during the COVID-19 pandemic. Results of the multiple linear regression analysis showed that female sex (p = 0.031), experience of psychological learning (p < 0.001), and social support (p < 0.001) had a positive predictive effect on the attitudes of these HCWs toward seeking professional psychological help, whereas self-stigma of seeking help (p < 0.001) and depressive symptoms (p < 0.001) exerted negative effects. Moreover, experience of psychological learning (p = 0.004) and social support (p < 0.001) had a positive predictive effect on the intentions of these HCWs toward seeking professional psychological help, whereas divorced marital status (p = 0.011) and self-stigma of seeking help (p < 0.001) exerted negative effects. Conclusion: The overall attitudes and intentions of HCWs toward seeking professional psychological help were not optimistic. Effective interventions targeted at influencing factors should be formulated to promote the professional psychological help-seeking attitudes and intentions of HCWs who are at risk of developing mental health problems.

15.
Invest Ophthalmol Vis Sci ; 64(12): 37, 2023 09 01.
Article in English | MEDLINE | ID: mdl-37747403

ABSTRACT

Purpose: To describe the genetic landscape of BEST1 for a large Chinese cohort with autosomal recessive bestrophinopathy (ARB), identify the missing heritability, and report a common Chinese founder variant. Methods: We recruited 65 patients from 63 families with a clinical diagnosis of ARB. All patients underwent ophthalmic examinations and comprehensive genetic analyses, including Sanger DNA sequencing of BEST1 and whole genome sequencing (WGS). The effects of deep intronic variants (DIVs) on splicing were assessed using in vitro splicing assays in HEK293T cells and patient-derived peripheral blood mononuclear cells. Haplotype mapping was performed for 17 unrelated patients harboring variant c.867+97G>A. Results: We identified 54 distinct disease-causing variants of BEST1 in 63 pedigrees, 62 probands with biallelic variants, and one family with monoallelic variants. Sanger DNA sequencing of BEST1 initially detected 51 variants in 61 pedigrees, including 19 probands with one heterozygous variant. Subsequent WGS, combined with supplementary Sanger sequencing, revealed three missing DIVs (c.1101-491A>G, c.867+97G>A, and c.867+97G>T) in 20 families. The novel DIV c.1101-491A>G caused an abnormal splicing resulting in a 204-nt pseudoexon (PE) insertion, whereas c.867+97G>A/T relatively strengthened an alternative donor site, resulting in a 203-nt intron retention (IR). The PE and IR generated a premature termination codon downstream. Haplotype analysis identified c.867+97G>A as a common founder variant with an allele frequency of 16%. Conclusions: Our results expand the pathogenic variant spectrum of BEST1, and DIVs can explain almost all of the missing heritability. The c.867+97G>A DIV is a common founder variant for Chinese patients with ARB.


Subject(s)
East Asian People , Eye Diseases, Hereditary , Retinal Diseases , Humans , Bestrophins/genetics , East Asian People/genetics , Eye Diseases, Hereditary/ethnology , Eye Diseases, Hereditary/genetics , HEK293 Cells , Leukocytes, Mononuclear , Retinal Diseases/ethnology , Retinal Diseases/genetics , Introns/genetics
16.
PeerJ ; 11: e16068, 2023.
Article in English | MEDLINE | ID: mdl-37750080

ABSTRACT

Objective: The aim of this study is to examine the factors that contribute to anxiety and depression in individuals undergoing maintenance hemodialysis (MHD), as well as their association with serum levels of brain-derived neurotrophic factor (BDNF), neurotrophin-3 (NT-3), and serotonin (5-HT). Methods: In May 2020 and June 2022, 120 MHD patients who received MDH treatment at our hospital were enrolled. The control group was composed of 60 healthy adults (>18) who completed the physical examination at the same time. The serum levels of BDNF, NT-3, and 5-HT in patients and clinical data of MHD patients with different degrees of anxiety and depression were compared. The Pearson correlation was used to evaluate the correlation between anxiety and depression scores and serum BDNF, NT-3,5-HT levels in patients with MHD. Multivariate analysis was employed to analyze the risk factors of anxiety and depression in MHD patients. Results: The incidence of anxiety and depression in 120 MHD patients was 34.17% (41/120) and 64.17% (77/120), respectively. The levels of serum NT-3 and 5-HT in the anxiety group were higher than those in the non-anxiety and control group, and the levels of serum NT-3 in the non-anxiety group were higher than those in the control group (P < 0.05). The levels of serum BDNF, NT-3 and 5-HT in the depressed group were higher than those in the non-depressed group and control group, and the levels of serum NT-3 in the non-depressed group were higher than those in the control group (P < 0.05). SAS score was positively correlated with serum NT-3 and 5-HT levels, while the SDS score was negatively correlated with serum BDNF and positively correlated with serum NT-3 and 5-HT levels. Female, rural household registration, and restless leg syndrome were independent risk variables for anxiety in patients with MHD (P < 0.05). Rural household registration, economic deterioration, fatigue, insomnia, and vascular pain were independent variables of depression risk in patients with MHD. Conclusion: Anxiety and depression in patients with MHD are closely related to the levels of serum BDNF, NT-3, and 5-HT. Female, rural household registration, more than eight dialysis times/month, insomnia, and restless leg syndrome are the risk factors for anxiety in patients with MHD. Rural household registration, economic deterioration, fatigue, insomnia, and vascular pain are the risk factors for depression in patients with MHD. The clinical implication of these findings suggests that these indexes may perhaps serve as biological indicators of anxiety and depression amongst patients undergoing MHD. Such investigation can hence contribute to early detection, monitoring, and potentially enable the depiction of novel therapeutic strategies for managing these adverse states.


Subject(s)
Restless Legs Syndrome , Sleep Initiation and Maintenance Disorders , Adult , Humans , Female , Brain-Derived Neurotrophic Factor , Serotonin , Depression/epidemiology , Renal Dialysis/adverse effects , Sleep Initiation and Maintenance Disorders/etiology , Restless Legs Syndrome/etiology , Anxiety/epidemiology , Pain/etiology
17.
Front Med (Lausanne) ; 10: 1121419, 2023.
Article in English | MEDLINE | ID: mdl-37614954

ABSTRACT

Background: Uveitis is a disease presenting with varied clinical symptoms and potentially devastates visual function. Here, we report a patient with uveitis exhibiting a rare appearance of preretinal deposits (PDs). Case presentation: A 49-year-old female showed vitreous opacity and perivascular white PDs involving veins and arteries. The interferon-gamma release assay was strongly positive and chest computed tomography showed signs of calcified nodules; other tests were unremarkable. The patient was diagnosed with uveitis and tubercular infection. The patient was given systemic anti-tubercular therapy and steroids, which were subsequently combined with immunosuppressants. The shrinkage of HRD was more sensitively observed with OCT than on photographs during follow-up visits. The right eye was relieved subsequently, but the left eye showed vitreous opacity and responded poorly to the treatment. Three months after the dexamethasone intravitreal implant, the perivascular deposits in the left eye disappeared and the vitreous opacity was relieved. Conclusion: PDs can appear as spotted deposits in the posterior pole and segmental deposits in the periphery in patients with uveitis, which mainly involves the vitreous cavity and is easily confused with retinal vasculitis. OCT can more sensitively observe the response than other examinations.

19.
ACS Sens ; 8(7): 2471-2492, 2023 07 28.
Article in English | MEDLINE | ID: mdl-37368490

ABSTRACT

The demand for monitoring chemical and physical information surrounding, air quality, and disease diagnosis has propelled the development of devices for gas sensing that are capable of translating external stimuli into detectable signals. Metal-organic frameworks (MOFs), possessing particular physiochemical properties with designability in topology, specific surface area, pore size and/or geometry, potential functionalization, and host-guest interactions, reveal excellent development promises for manufacturing a variety of MOF-coated sensing devices for multitudinous applications including gas sensing. The past years have witnessed tremendous progress on the preparation of MOF-coated gas sensors with superior sensing performance, especially high sensitivity and selectivity. Although limited reviews have summarized different transduction mechanisms and applications of MOF-coated sensors, reviews summarizing the latest progress of MOF-coated devices under different working principles would be a good complement. Herein, we summarize the latest advances of several classes of MOF-based devices for gas sensing, i.e., chemiresistive sensors, capacitors, field-effect transistors (FETs) or Kelvin probes (KPs), electrochemical, and quartz crystal microbalance (QCM)-based sensors. The surface chemistry and structural characteristics were carefully associated with the sensing behaviors of relevant MOF-coated sensors. Finally, challenges and future prospects for long-term development and potentially practical application of MOF-coated sensing devices are pointed out.


Subject(s)
Metal-Organic Frameworks , Commerce
20.
Medicine (Baltimore) ; 102(25): e34069, 2023 Jun 23.
Article in English | MEDLINE | ID: mdl-37352082

ABSTRACT

To study the difference of clinical characteristics and prognostic factors from elderly patients with renal cell carcinoma (RCC), the statistical analysis was carried out based on the surveillance, epidemiology, and end results database. The relevant clinical information of 19,472 RCC patients from 2010 to 2015 were collected, and the differences of clinicopathological characteristics and survival rate was analyzed by log-rank method and Chi square test, respectively. Multivariate Cox regression model was used to explore the independent risk factors affecting the long-term survival of RCC patients. Results showed that the proportion of elderly RCC patients in the 60-64-year group in 2010 was 15.20%, but the value elevated to 18.51% in 2015, and the Chi-square test revealed the significant correlation between elderly RCC patients with gender, race, American Joint Committee on cancer stage, T stage, N stage, and M stage. The difference of survival time between the 60-69 year, 70-79 year, 80-84 year, and 85+ year group was significant, and Kaplan-Meier analysis showed a negative effects of age on survival rate of RCC patients, indicating a worsening trend with increasing age. Cox proportional hazards model analysis further confirmed that age was the important independent prognostic factor. Our study reveals that the onset age of RCC in elderly population is gradually decreasing, and the malignant degree of elderly RCC patients is increasing with age. The female elderly population could be more susceptible to RCC than male elderly population, and 85+ year population could also be cancer susceptible with a higher lymph node metastasis rate, later tumor stage, and poor prognosis, suggesting that these elderly populations should pay more attention to the RCC screening.


Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Humans , Male , Female , Aged , Carcinoma, Renal Cell/pathology , Kidney Neoplasms/pathology , Prognosis , Neoplasm Staging , Proportional Hazards Models
SELECTION OF CITATIONS
SEARCH DETAIL
...