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1.
Cell Mol Life Sci ; 81(1): 218, 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38758395

RESUMO

The endocytic adaptor protein 2 (AP-2) complex binds dynactin as part of its noncanonical function, which is necessary for dynein-driven autophagosome transport along microtubules in neuronal axons. The absence of this AP-2-dependent transport causes neuronal morphology simplification and neurodegeneration. The mechanisms that lead to formation of the AP-2-dynactin complex have not been studied to date. However, the inhibition of mammalian/mechanistic target of rapamycin complex 1 (mTORC1) enhances the transport of newly formed autophagosomes by influencing the biogenesis and protein interactions of Rab-interacting lysosomal protein (RILP), another dynein cargo adaptor. We tested effects of mTORC1 inhibition on interactions between the AP-2 and dynactin complexes, with a focus on their two essential subunits, AP-2ß and p150Glued. We found that the mTORC1 inhibitor rapamycin enhanced p150Glued-AP-2ß complex formation in both neurons and non-neuronal cells. Additional analysis revealed that the p150Glued-AP-2ß interaction was indirect and required integrity of the dynactin complex. In non-neuronal cells rapamycin-driven enhancement of the p150Glued-AP-2ß interaction also required the presence of cytoplasmic linker protein 170 (CLIP-170), the activation of autophagy, and an undisturbed endolysosomal system. The rapamycin-dependent p150Glued-AP-2ß interaction occurred on lysosomal-associated membrane protein 1 (Lamp-1)-positive organelles but without the need for autolysosome formation. Rapamycin treatment also increased the acidification and number of acidic organelles and increased speed of the long-distance retrograde movement of Lamp-1-positive organelles. Altogether, our results indicate that autophagy regulates the p150Glued-AP-2ß interaction, possibly to coordinate sufficient motor-adaptor complex availability for effective lysosome transport.


Assuntos
Autofagia , Complexo Dinactina , Lisossomos , Alvo Mecanístico do Complexo 1 de Rapamicina , Neurônios , Lisossomos/metabolismo , Complexo Dinactina/metabolismo , Animais , Humanos , Alvo Mecanístico do Complexo 1 de Rapamicina/metabolismo , Neurônios/metabolismo , Complexo 2 de Proteínas Adaptadoras/metabolismo , Sirolimo/farmacologia , Camundongos , Proteína 1 de Membrana Associada ao Lisossomo/metabolismo , Autofagossomos/metabolismo , Ligação Proteica
2.
Mol Biol Cell ; 35(3): ar43, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38294869

RESUMO

Synaptic plasticity is a process that shapes neuronal connections during neurodevelopment and learning and memory. Autophagy is a mechanism that allows the cell to degrade its unnecessary or dysfunctional components. Autophagosomes appear at dendritic spines in response to plasticity-inducing stimuli. Autophagy defects contribute to altered dendritic spine development, autistic-like behavior in mice, and neurological disease. While several studies have explored the involvement of autophagy in synaptic plasticity, the initial steps of the emergence of autophagosomes at the postsynapse remain unknown. Here, we demonstrate a postsynaptic association of autophagy-related protein 9A (Atg9A), known to be involved in the early stages of autophagosome formation, with Rab11, a small GTPase that regulates endosomal trafficking. Rab11 activity was necessary to maintain Atg9A-positive structures at dendritic spines. Inhibition of mTOR increased Rab11 and Atg9A interaction and increased the emergence of LC3 positive vesicles, an autophagosome membrane-associated protein marker, in dendritic spines when coupled to NMDA receptor stimulation. Dendritic spines with newly formed LC3+ vesicles were more resistant to NMDA-induced morphologic change. Rab11 DN overexpression suppressed appearance of LC3+ vesicles. Collectively, these results suggest that initiation of autophagy in dendritic spines depends on neuronal activity and Rab11a-dependent Atg9A interaction that is regulated by mTOR activity.


Assuntos
Espinhas Dendríticas , N-Metilaspartato , Animais , Camundongos , Autofagossomos/metabolismo , Autofagia , Espinhas Dendríticas/metabolismo , N-Metilaspartato/metabolismo , Serina-Treonina Quinases TOR/metabolismo
3.
Int J Occup Med Environ Health ; 36(3): 428-436, 2023 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-37681430

RESUMO

OBJECTIVES: Polyunsaturated fatty acids (PUFAs) are involved both in immune system regulation and inflammation. The aim of this prospective study was to evaluate the association between maternal dietary intake of PUFAs during pregnancy and atopic dermatitis (AD) and food allergy (FA) in their children up to 7-9 years of age. MATERIAL AND METHODS: The study population consists of 557 mother-child pairs from the Polish Mother and Child Cohort (REPRO_PL). Based on the Food Frequency Questionnaire completed between the 20-24th weeks of pregnancy, n-3 and n-6 PUFAs as well as n-6:n-3 fatty acid ratio were estimated using food composition tables. Children's health examinations at the age of 1, 2, and 7-9 years were performed by an allergist. Generalized estimating equations were performed in order to assess the prevalence of AD and FA at 3 time points. Independent variables in the equation were n-3, n-6 PUFAs and n-6:n-3 PUFAs ratio. In addition multivariate models were performed to assess the association of PUFAs with AD and FA. RESULTS: The prevalence of AD was 37%, 26% and 21% and FA 26%, 22% and 22% at age of 1, 2 and 7-9 years, respectively. Higher n-6:n-3 fatty acid ratio correlated with higher prevalence of AD at age of 7-9 years (p < 0.07). In multivariate model n-6 PUFAs were significantly associated with increased risk of persistent FA (OR = 1.5, 95% CI: 1.1-2.1). CONCLUSIONS: These results may contribute to the existing knowledge on the impact of maternal diet during pregnancy on children's optimal health, however further studies are needed before drawing conclusions and creating clinical practice guidelines. Int J Occup Med Environ Health. 2023;36(3):428-36.


Assuntos
Dermatite Atópica , Ácidos Graxos Ômega-3 , Hipersensibilidade Alimentar , Feminino , Gravidez , Humanos , Criança , Dermatite Atópica/epidemiologia , Estudos de Coortes , Estudos Prospectivos , Mães , Polônia/epidemiologia , Ácidos Graxos Insaturados , Hipersensibilidade Alimentar/epidemiologia
4.
Pharmaceuticals (Basel) ; 16(9)2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37765044

RESUMO

BACKGROUND: We aimed to assess the real-life prevalence, patient profile, and clinical presentation of drug hypersensitivity to NSAIDs in children after an incidence of an adverse event during treatment, verified by a drug challenge test. METHODS: We included 56 children, aged 4-18 years, referred to our allergy clinic due to the incidence of adverse reaction during treatment. Skin prick tests and a drug provocation test were performed in all patients. Diagnostics for persistent urticaria were performed. RESULTS: In 56 patients suspected of drug allergy, we proved NSAID hypersensitivity in 17 patients (30.1%). In 84.9% (n = 47) of patients, the clinical manifestations of hypersensitivity revealed angioedema and urticaria. The most common culprit drug among NSAIDs in children was ibuprofen. Thirty-one (55.4%) reactions were immediate, and 25 (44.6%) were delayed or late. Previous history of allergy was a risk factor for NSAID hypersensitivity (p = 0.001). Vitamin D deficiency in the blood serum was a risk factor for NASID hypersensitivity (OR = 5.76 (95% Cl: 1.42-23.41)). CONCLUSIONS: Hypersensitivity to NSAIDs is a difficult diagnostic problem in pediatric allergy. The most common manifestation of hypersensitivity to ibuprofen in children is acute urticaria and angioedema. Two important problems in the differential diagnosis are cofactors such as vitamin D levels and viral infections, which require further research.

5.
Int J Occup Med Environ Health ; 36(5): 632-642, 2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-37750429

RESUMO

OBJECTIVES: On average about 10% of parents report hypersensitivity to at least 1 drug in their children. After diagnosis process a few of these reactions are being confirmed as drug hypersensitivity reactions. The aim of the study was to assess the real-life prevalence of drug hypersensitivity in children based on drug provocation tests. MATERIAL AND METHODS: The authors included 113 children, aged 4-18 years, referred to Pediatrics and Allergy Clinic in Lódz, Poland, due to incidence of adverse reaction during treatment. Medical history regarding allergies to drugs was taken in accordance to the form developed by the United States Food and Drug Administration Adverse Event Reporting System. Skin prick tests, intradermal test and drug provocation test were performed in all patients. RESULTS: In all 113 patients suspected of drug allergy, after all diagnostic procedures, the authors proved IgE-mediated allergy to ß-lactams, nonsteroid anti-inflammatory drugs, local anesthetics in 19 patients (16.8%). Previous history of allergy was a risk factor for drug allergy in studied patients (p = 0.001). The most frequent symptoms of allergy were urticaria and erythematous papular rash. CONCLUSIONS: Drug allergy is a difficult problem in the practice of a doctor and is difficult to diagnose, especially in the pediatric population. It seems that too often isolated symptoms reported during infection or disease are taken as a symptom of drug allergy, and not as a symptom resulting from the course of the disease. Int J Occup Med Environ Health. 2023;36(5):632-42.


Assuntos
Hipersensibilidade a Drogas , Hipersensibilidade , Criança , Humanos , Hipersensibilidade a Drogas/diagnóstico , Hipersensibilidade a Drogas/epidemiologia , Hipersensibilidade/epidemiologia , Testes Cutâneos , beta-Lactamas/efeitos adversos , Fatores de Risco , Antibacterianos/efeitos adversos
6.
Diagnostics (Basel) ; 13(10)2023 May 12.
Artigo em Inglês | MEDLINE | ID: mdl-37238209

RESUMO

PURPOSE: to assess the vasculature and thickness of the macula using OCT-A in patients who had experienced a previous episode of Leber hereditary optic neuropathy (LHON) or non-arteritic anterior ischemic optic neuropathy (NA-AION). METHODS: twelve eyes with chronic LHON and ten eyes with chronic NA-AION and eight NA-AION fellow eyes were examined using OCT-A. The vessel density was measured in the superficial and deep plexus of the retina. Moreover, the full and inner thicknesses of the retina were assessed. RESULTS: There were significant differences in all sectors between the groups in regard to the superficial vessel density and the inner and full thicknesses of the retina. The nasal sector of the macular superficial vessel density was affected more in LHON than in NA-AION; the same with the temporal sector of the retinal thickness. There were no significant differences between the groups in the deep vessel plexus. There were no significant differences between the vasculature of the inferior and superior hemifields of the macula in all groups and no correlation with the visual function. CONCLUSIONS: The superficial perfusion and structure of the macula assessed with OCT-A are affected both in chronic LHON and NA-AION, but more in LHON eyes, especially in the nasal and temporal sectors.

7.
Ophthalmic Res ; 66(1): 481-488, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36634627

RESUMO

INTRODUCTION: The colour vision in bestrophinopathies has not been assessed in detail so far. The aim of this study was to explore the extent to which distinct types of bestrophinopathies differ in regard to colour vision deficiencies using Farnsworth Dichotomous D-15 and Lanthony Desaturated D-15 panel tests. METHODS: Both D-15 tests were performed in 52 eyes of 26 patients with Best vitelliform macular dystrophy (BVMD) and 10 eyes of 5 patients with autosomal recessive bestrophinopathy (ARB). Two methods were used for a quantitative assessment of the colour vision deficiencies: moment of inertia method and Bowman method. The following parameters were calculated: confusion angle, confusion index (C-index), selectivity index (S-index), total error score (TES), and colour confusion index (CCI). RESULTS: The median value of confusion angle for all stages of BVMD fell into a narrow range around 62, indicating normal results. The median confusion angle value was 57 in ARB patients within a very wide range down to -82, indicating non-specific deficits. These differences were statistically significant. Significantly abnormal C-index and CCI values were found only in ARB patients, being 2.0 and 1.49, respectively. The majority of parameters of D-15 tests were independent of the visual acuity in both bestrophinopathies. CONCLUSIONS: Elaborate evaluation of the D-15 panel tests might help establish a differential diagnosis between different bestrophinopathies, as the pattern of the colour vision loss is different between BVMD and ARB. The quantitative parameters of colour vision tests in bestrophinopathies are independent of the visual acuity.


Assuntos
Defeitos da Visão Cromática , Distrofia Macular Viteliforme , Humanos , Distrofia Macular Viteliforme/diagnóstico , Distrofia Macular Viteliforme/genética , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/genética , Bestrofinas/genética , Antagonistas de Receptores de Angiotensina , Inibidores da Enzima Conversora de Angiotensina , Tomografia de Coerência Óptica
8.
Artigo em Inglês | MEDLINE | ID: mdl-36361044

RESUMO

Early life is a crucial window of opportunity to improve health across the life course. The prospective cohort study design is the most adequate to evaluate the longitudinal effects of exposure, the notification of changes in the exposure level and evaluation of the simultaneous impact of various exposures, as well as the assessment of several health effects and trajectories throughout childhood and adolescence. This paper provides an overview of the Polish Mother and Child cohort (REPRO_PL), with particular emphasis on Phase IV of this study. REPRO_PL is conducted in central Europe, where such longitudinal studies are less frequently implemented. In this population-based prospective cohort, which was established in 2007, three phases covering pregnancy (I), early childhood (II), and early school age (III) periods have already been completed. Phase IV gives a uniform opportunity to follow-up children during adolescence in order to evaluate if the consequences of prenatal and early postnatal exposures still persist at the age of 14. Moreover, we will be able to investigate the associations between simultaneous exposures to a broad spectrum of environmental factors, adolescents' health and neurobehavioral outcomes, and their trajectories within life, which is a novel framework of high scientific, public health and clinical priority.


Assuntos
Mães , Efeitos Tardios da Exposição Pré-Natal , Criança , Gravidez , Feminino , Humanos , Pré-Escolar , Adolescente , Exposição Materna , Estudos Prospectivos , Polônia , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Exposição Ambiental , Desenvolvimento Infantil , Estudos de Coortes , Nível de Saúde
9.
Artigo em Inglês | MEDLINE | ID: mdl-36231487

RESUMO

Microelements and vitamins are believed to have immunomodulatory effects. The aim of the study was to establish the role of antioxidants (vitamins A, E, D) and microelements such as copper (Cu), selenium (Se), and zinc (Zn) levels in allergic diseases in schoolchildren. The study uses a cohort of 80 children (40 with and 40 without allergy/asthma diagnosis) aged 9 to 12 years recruited for the Polish Mother and Child Cohort Study. At nine to twelve years old, the children were tested for microelement and vitamin content and health status (including skin-prick test and spirometry, urine cotinine level). Demographic data were collected from mothers by an allergist. The risk of asthma occurrence was found to be significantly related to the levels of Cu and Zn. The level of Cu was also particularly closely associated with allergic rhinitis and was indicated as a significant predictor of food allergy. The levels of Cu and Zn, and poor nutritional status in general, can influence the immune system and may be considered risk factors for developing asthma, allergic rhinitis and food allergy.


Assuntos
Asma , Hipersensibilidade Alimentar , Rinite Alérgica , Selênio , Antioxidantes , Asma/epidemiologia , Criança , Estudos de Coortes , Cobre , Cotinina , Feminino , Humanos , Micronutrientes , Vitamina A , Vitaminas , Zinco
10.
Artigo em Inglês | MEDLINE | ID: mdl-36231188

RESUMO

OBJECTIVE: We hypothesized that, in our REPRO_PL cohort, exposure to indoor allergens and lifestyle factors in early life are associated with risk of asthma, atopic dermatitis, and allergic rhinitis at ten years of age. METHODS: We only examined children who had lived in the same house from birth. Children's exposure to tobacco smoke was assessed based on cotinine levels in urine. House dust samples were collected. RESULTS: Higher Fel d1 concentration in house dust was associated with significantly higher risk of developing asthma at age 10 years (95% CI,10.87 to 20.93; p < 0.001). Frequent house cleaning was associated with development of atopic dermatitis (odds ratio 0.61; 95% CI 0.37 to 0.99; p = 0.045). Clustering of exposure to HDM revealed two types of environment. Cluster 1, defined as lower HDM (dust), in contrast to Cluster 2, defined as higher HDM, was characterized by old-type windows, lower fungus and dampness levels, as well as more frequent house cleaning. CONCLUSION: Exposure to cat allergens and new-type buildings that limit air flow while increasing the condensation of steam on the windows and thereby stimulating the growth of fungi are risk factors for the development of asthma.


Assuntos
Asma , Dermatite Atópica , Hipersensibilidade , Poluição por Fumaça de Tabaco , Alérgenos , Asma/induzido quimicamente , Asma/etiologia , Coorte de Nascimento , Cotinina , Dermatite Atópica/induzido quimicamente , Poeira/análise , Ambiente Domiciliar , Humanos , Hipersensibilidade/complicações , Hipersensibilidade/epidemiologia , Vapor , Poluição por Fumaça de Tabaco/efeitos adversos
11.
J Clin Med ; 11(11)2022 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-35683581

RESUMO

PURPOSE: To report the visual outcomes of different techniques for iris pupilloplasty in eyes after traumatic and iatrogenic damage. METHODS: 70 consecutive eyes with posttraumatic (80%) and postoperative (20%) iris damage were included. According to the preoperative diagnosis, the eyes were divided into three groups: mydriasis (50%), partial iris defects (24%), and iridodialysis (26%). Multiple techniques were performed: the Siepser slip-knot technique, the "lasso" technique, and suturing to the sclera. These techniques were combined in some cases. RESULTS: The best improvement of visual acuity was found for the Siepser slip-knot technique with a median of 0.7 (SD ± 0.83) before surgery and 0.52 logMAR (SD ± 0.65) after surgery with regard to the surgical technique, and for mydriasis with a median of 0.7 (SD ± 0.75) before surgery and 0.52 logMAR (SD ± 0.49) after surgery with regard to preoperative diagnosis. Pupilloplasty was combined with additional surgery (corneal suturing, secondary intraocular lens implantation, anterior or pars plana vitrectomy) in 80% of cases. Apart from corneal suturing, all additional procedures ensured improvement in visual acuity. CONCLUSIONS: The slip-knot technique was the only suturing technique that resulted in a significant improvement in visual acuity. Other surgical procedures are usually needed in the majority of cases that undergo pupilloplasty, and they also give visual gain.

13.
J Clin Med ; 11(7)2022 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-35407397

RESUMO

PURPOSE: To evaluate the results of a pars plana vitrectomy (PPV) combined with cataract surgery for primary rhematogenous retinal detachment (RD) using a three-dimensional (3D) viewing system and a conventional microscope (CM). METHODS: Medical reports of 82 patients were retrospectively reviewed: 26 patients were operated on with 3D and 56 patients were operated on with CM. The main outcome measures were visual acuity, duration of the surgery, and the rate of postoperative complications. RESULTS: No statistically significant differences in pre- and postoperative visual acuity were found between both groups. There was significant improvement in the visual acuity in both groups. The best postoperative visual acuity was achieved with SF6 gas tamponade, followed by C3F8 gas and silicone oil in both groups. The duration of the surgery (60 min vs. 55 min) and the rate of postoperative complications (15% vs. 14%) were similar in both groups. CONCLUSIONS: The similar postoperative visual acuity and rate of complications detected using 3D and CM indicate that the 3D viewing system may be advantageous in the treatment of rhematogenous RD with PPV combined with cataract surgery, i.e., a complex procedure involving both anterior and posterior segment manipulations.

14.
Environ Res ; 208: 112682, 2022 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-34999032

RESUMO

BACKGROUND: The impact of maternal diet during pregnancy on the risk of allergic diseases in childhood is an increasing scientific and public health concern. We evaluated the associations of maternal type of diet and essential elements and vitamins intake during pregnancy with offspring allergic and respiratory outcomes. METHODS: The study population included 557 mother-child pairs from Polish Mother and Child Cohort (REPRO_PL). Based on the Food Frequency Questionnaire filled in between the 20th-24th week of pregnancy, overall maternal diet was evaluated as the difference between the Prudent Dietary Pattern (PDP) score and Western Dietary Pattern (WDP) score ((PDP-WDP) score) and maternal achievement of dietary recommendations (estimated average requirement, EAR) for essential elements and vitamins was assessed. Children's health examination at age of 1, 2, and 7-9 years covered the following symptoms: infections, wheezing/asthma, food allergy, allergic rhinitis, and atopic dermatitis. At age of 7-9 years, children underwent spirometry and skin-prick tests. RESULTS: Children of the mothers who were not achieving adequate intake of vitamin C during pregnancy had a higher risk of wheezing and having more than two infections within the first two years of life comparing to those who met EAR (OR = 2.6, p = 0.05, and OR = 2.3, p = 0.04, respectively). Inadequate intake of vitamin E during pregnancy was related to a higher risk of atopic dermatitis (OR = 2.7, p = 0.04), whereas inadequate intake of magnesium during pregnancy was associated with the risk of wheezing in the offspring at age of two years (OR = 3.7, p = 0.03). A lower (PDP-WDP) score during pregnancy (indicating unhealthier diet) was associated with a higher risk of infections (OR = 1.5, p = 0.007) but a lower risk of atopic dermatitis (OR = 0.7, p = 0.02) at age of 7-9 years. CONCLUSIONS: These results may contribute to the body of evidence for the impact of maternal diet during pregnancy for children's optimal health, however further studies are needed before drawing conclusions and recommendations for clinical practice.


Assuntos
Efeitos Tardios da Exposição Pré-Natal , Rinite Alérgica , Criança , Pré-Escolar , Estudos de Coortes , Dieta/efeitos adversos , Feminino , Humanos , Mães , Polônia/epidemiologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal/epidemiologia
15.
Int J Occup Med Environ Health ; 35(1): 107-110, 2022 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-34346923

RESUMO

Local anesthetics (LA) have been used for a wide variety of procedures over the years due to their analgesic effect. These drugs have been seen to cause adverse events in the pediatric population, but an actual allergy must be in question. A case of an apparent hypersensitivity reaction to LA used in the setting of dental procedures in a 14.5-year-old girl with a forgotten history of asthma was reported and medical documentation review was performed. After treatment with LA during several dental procedures, the patient presented the shortness of breath, malaise and fainting, which then resolved spontaneously. After proper history taking, and skin and provocation tests, the patient was diagnosed with bronchial asthma and emotional sensitivity. The patient's recommendation included using an antihistamine and controlling her asthma before the use of LA, and administering the drug in a supine position. It is essential to consider all possible etiologies of an adverse event after using drugs in the pediatric population and to perform proper testing before making the diagnosis of a drug allergy.


Assuntos
Asma , Hipersensibilidade a Drogas , Adolescente , Anestésicos Locais/efeitos adversos , Asma/diagnóstico , Asma/tratamento farmacológico , Criança , Hipersensibilidade a Drogas/diagnóstico , Hipersensibilidade a Drogas/epidemiologia , Hipersensibilidade a Drogas/etiologia , Feminino , Humanos , Testes Cutâneos/efeitos adversos , Odontalgia/induzido quimicamente , Odontalgia/complicações
16.
Acta Ophthalmol ; 100(3): e847-e858, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34327816

RESUMO

PURPOSE: To analyse the spectrum of clinical features and molecular genetic data in a series of patients carrying likely disease-associated variants in the BEST1 gene. METHODS: Retrospective observational analysis of clinical data extracted from the medical records of visual function, multimodal imaging and electrophysiology of 62 eyes of 31 patients. Molecular genetic analysis was performed by means of panel-based NGS or Sanger sequencing. RESULTS: The spectrum of variants in the BEST1 gene comprised 19 different variants and three of which are novel. Fundus photographs and OCT images allowed categorization of 52 eyes as Best vitelliform macular dystrophy (BVMD) with stages 1 to 5 and 10 eyes with autosomal recessive bestrophinopathy (ARB), with more severe phenotype. One patient was shown to be heterozygous for a variant, which has so far been described only in ARB, but this patient had the BVMD phenotype. There was no significant progression of the visual acuity during the follow-up period of 5 years both in BVMD and ARB. The most prevalent pattern of fundus autofluorescence (FAF) in BVMD was 'patchy'. There were diverse visual field defects in static automated perimetry (SAP) depending on the stage. The Arden ratio was significantly lower in ARB patients and in eyes with stage 5 of BVMD. CONCLUSIONS: The genotype does not always predict the phenotype in patients with BVMD and ARB; however, having two mutations in the BEST1 gene causes a more severe phenotype. FAF helped to distinguish ARB from BVMD. Most of the observed eyes did not progress functionally during the follow-up. ARB and the atrophic stage of BVMD as the disease end-stage had the worst visual functions and EOG results.


Assuntos
Bestrofinas , Doenças Retinianas , Distrofia Macular Viteliforme , Bestrofinas/genética , Genótipo , Humanos , Mutação , Linhagem , Fenótipo , Doenças Retinianas/genética , Estudos Retrospectivos , Tomografia de Coerência Óptica , Distrofia Macular Viteliforme/diagnóstico , Distrofia Macular Viteliforme/genética
17.
J Clin Med ; 10(18)2021 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-34575242

RESUMO

PURPOSE: To measure RNFL and vasculature around the optic disc and in the macula in patients with schizophrenia (SZ) and bipolar disorder (BD) using optical coherence tomography angiography (OCTA). METHODS: 24 eyes of patients with SZ and 16 eyes of patients with BD as well as 30 eyes of healthy subjects were examined with OCTA. The radiant peripapillary capillary (RPC) density and RNFL thickness were measured in the peripapillary area. Moreover, macular thickness and vessel density were measured in both superficial and deep layers. RESULTS: Significantly decreased values of vessel density in the macular deep vascular complex were found in the eyes of patients with SZ, compared to BD and the control group. The macular thickness in the whole vascular complex and in the fovea was significantly lower in SZ and BD group than in the control group. The radiant peripapillary vascular density and RNFL thickness were similar across groups. CONCLUSIONS: The retinal microvascular dysfunction occurs in the macula in patients with SZ and BD, but not around optic disc. OCTA can become an essential additional diagnostic tool in detection of psychiatric disorders.

18.
J Clin Med ; 10(12)2021 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-34207903

RESUMO

To evaluate visual outcomes and safety of the double-needle technique using flanged haptics (Yamane technique) in patients with aphakia caused by ocular trauma at a trauma referral center. Retrospective: Consecutive interventional case series of 30 patients who underwent the Yamane technique due to posttraumatic aphakia. The double-needle technique using flanged haptics was combined with anterior vitrectomy (group A) in 14 patients, and with pars plana vitrectomy (PPV) (group B) due to retinal detachment, nucleus dislocation into the vitreous cavity, or intraocular lens (IOL) displacement in 16 patients. No intraoperative complications were noted. There was significant improvement in the visual acuity in both groups at the second postoperative visit. However, the visual acuity was significantly worse in the group treated with the Yamane technique combined with PPV. Silicone oil tamponade in PPV group was associated with worse visual acuity, whereas post lensectomy status was associated with poor visual function result in the anterior vitrectomy group. There was one case of slight IOL decentration and one retinal detachment during the postoperative follow-up period in the group with PPV. In this case series, the Yamane technique applied in traumatized eyes was found to be an efficacious and safe procedure. Combining the Yamane technique with PPV due to posterior segment ocular trauma was associated with worse functional results in the follow-up at three months. Further studies with longer follow-up evaluations are required to verify long-term complications.

19.
Life (Basel) ; 11(5)2021 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-34069386

RESUMO

(1) Background: The aim of the study was to test the hypothesis that the antioxidant status in the vitreous body of eyes, which had been vitrectomized due to rhegmatogenous retinal detachment (RRD) with or without proliferative vitreoretinopathy (PVR), is higher than in eyes vitrectomized due to other retinal diseases. (2) Methods: four patient groups were analyzed: 22 eyes of patients with RRD without PVR, 27 eyes with RRD and PVR, 22 eyes with macular hole (MH) and 10 eyes with epiretinal membrane (ERM). Spectrophotometric methods were used to determine the total antioxidant status (TAS) values as well as superoxide dismutase (SOD) and glutathione reductase (GR) activities in the vitreous fluid samples. (3) Results: no significant differences in TAS values and antioxidant enzyme activities were observed among patient with RRD with and without PVR and with MH and ERM. The longer the duration of RRD leading to PVR and better postoperative visual acuity, the higher the TAS level. No significant differences were found between "macula on" and "macula off" subgroups within the RRD group and the RRD combined with PVR group. (4) Conclusions: The preliminary results do not support the thesis that the antioxidant status of vitrectomized eyes is different in patients with RRD with or without PVR in comparison to patients with MH and ERM. In patients with RRD, PVR presence and detached macula do not affect the values of TAS, SOD and GR in the vitreous fluid. The duration of the disease influences TAS in the vitreous in eyes with RRD complicated with PVR.

20.
Artigo em Inglês | MEDLINE | ID: mdl-33865296

RESUMO

BACKGROUND: Sensitization to cat and/or dog allergens during childhood represents a risk factor for the development of allergic diseases later in life. OBJECTIVE: The study investigated the association of patterns of sensitization to cat and dog allergen components with clinical symptoms of allergy to these furry animals among cat-sensitized children. METHODS: The children were evaluated for the presence of bronchial asthma, atopic dermatitis and allergic rhinitis. Their mothers completed a questionnaire on pet exposure at home. Levels of serum IgE cat epitopes Fel d (1, 2, 4), as well as dog components Can f (1, 2, 3, 5) were measured in all the studied children. RESULTS: Respiratory symptoms following exposure to the cat allergen were most common in children with Fel d 2 epitope (p = 0.041). After contact with a dog, respiratory symptoms were most common in children with Can f 1 epitope (p = 0.042), atopic dermatitis in children with sensitization to both Can f 1 (p = 0.009) and Can f 2 (p = 0.002), whereas eye symptoms occurred mostly in children with Can f 3 (p = 0.039). CONCLUSIONS: Molecular diagnosis in patients with pet allergy may help clinicians to predict clinical symptoms and their severity.

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