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BACKGROUND: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye disorder that can also affect other organs of the human body. The condition is primarily characterized by the anterior segmental abnormalities of the eye. Here, we present an observational case series of a three-generation family with ARS and unexpected foveal anomaly. CASE PRESENTATION: A 33-year-old woman was admitted to an Ophthalmology Clinic in Bialystok for left eye congenital cataract surgery. The patient (proband) was diagnosed with visual deterioration, multiple defects of iris, corectopia, displacement of the Schwalbe's line, and phenotypic characteristics of ARS. A perimetric examination indicated peripheral visual field loss and signs typical for glaucoma. Based on the phenotypic symptoms and genetic test, the patient was diagnosed with Axenfeld Rieger Syndrome. However, the optical coherence tomography of the macula showed foveal anomaly (absence of the physiological pit), which is not typically associated with this genetic disorder. The patient's family history revealed that her two daughters were undergoing treatment for congenital glaucoma, and one of the daughters also had foveal anomaly the same as her mother. Interestingly, an examination of the patient's mother showed typical phenotypic features of ARS such as a defect of the iris, posterior embryotoxon, and coloboma, as well as foveal anomaly. A genetic test confirmed PITX2 mutation in both, proband's two daughters and mother. CONCLUSIONS: This study highlights the occurrence of ARS with unusual ophthalmic features such as foveal anomaly (absence of the physiological pit) in a three-generation family. Although ARS is known to represent the developmental defects of the anterior segment of the eye, it is very important to perform fundus evaluation to identify associated posterior segment anomalies that may affect visual acuity. The presence of ocular defects not typically associated with ARS suggests a wide spectrum of mutations within PITX2 gene which are required to identify in order to determine genotype- phenotype correlation in ARS affected individuals.
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Anormalidades Múltiplas , Anormalidades do Olho , Adulto , Segmento Anterior do Olho/anormalidades , Segmento Anterior do Olho/diagnóstico por imagem , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Oftalmopatias Hereditárias , Feminino , Humanos , LinhagemRESUMO
Neurodegenerative diseases pose a significant health challenge for the elderly. The escalating presence of toxic metals and chemicals in the environment is a potential contributor to central nervous system dysfunction and the onset of neurodegenerative conditions. Transition metals play a crucial role in various pathophysiological mechanisms associated with prevalent neurodegenerative diseases such as Alzheimer's and Parkinson's. Given the ubiquitous exposure to metals from diverse sources in everyday life, the workplace, and the environment, most of the population faces regular contact with different forms of these metals. Disturbances in the levels and homeostasis of certain transition metals are closely linked to the manifestation of neurodegenerative disorders. Oxidative damage further exacerbates the progression of neurological consequences. Presently, there exists no curative therapy for individuals afflicted by neurodegenerative diseases, with treatment approaches primarily focusing on alleviating pathological symptoms. Within the realm of biologically active compounds derived from plants, flavonoids and curcuminoids stand out for their extensively documented antioxidant, antiplatelet, and neuroprotective properties. The utilization of these compounds holds the potential to formulate highly effective therapeutic strategies for managing neurodegenerative diseases. This review provides a comprehensive overview of the impact of abnormal metal levels, particularly copper, iron, and zinc, on the initiation and progression of neurodegenerative diseases. Additionally, it aims to elucidate the potential of fisetin and curcumin to inhibit or decelerate the neurodegenerative process.
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BACKGROUND: Berberine is the main active compound of different herbs and is defined as an isoquinoline quaternary botanical alkaloid found in barks and roots of numerous plants. It exhibits a wide range of pharmacological effects, such as anti-obesity and antidiabetic effects. Berberine has antibacterial activity against a variety of microbiota, including many bacterial species, protozoa, plasmodia, fungi, and trypanosomes. OBJECTIVE: This review describes the role of berberine and its metabolic effects. It also discusses how it plays a role in glucose metabolism, fat metabolism, weight loss, how it modulates the gut microbiota, and what are its antimicrobial properties along with its potential side effects with maximal tolerable dosage. METHODS: Representative studies were considered and analyzed from different scientific databases, including PubMed and Web of Science, for the years 1982-2022. RESULTS: Literature analysis shows that berberine affects many biochemical and pharmacological pathways that theoretically yield a positive effect on health and disease. Berberine exhibits neuroprotective properties in various neurodegenerative and neuropsychological ailments. Despite its low bioavailability after oral administration, berberine is a promising tool for several disorders. A possible hypothesis would be the modulation of the gut microbiome. While the evidence concerning the aging process in humans is more limited, preliminary studies have shown positive effects in several models. CONCLUSION: Berberine could serve as a potential candidate for the treatment of several diseases. Previous literature has provided a basis for scientists to establish clinical trials in humans. However, for obesity, the evidence appears to be sufficient for hands-on use.
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Alcaloides , Antineoplásicos , Berberina , Humanos , Berberina/farmacologia , Berberina/uso terapêutico , Berberina/química , Envelhecimento , Hipoglicemiantes/farmacologia , Hipoglicemiantes/uso terapêuticoRESUMO
PURPOSE: The aim of the study was to compare the quantity, type of glaucoma surgeries, and the disease stage before and during the coronavirus disease 2019 (COVID-19) pandemic. METHODS: This was a retrospective, single-centre consecutive case series that included medical records of patients who underwent glaucoma surgery at the University Hospital in Bialystok between 4 September, 2018, and 3 March, 2020 (pre-pandemic group) and compared it with patients treated between 4 March, 2020, and 4 September, 2021 (pandemic group). Adult patients with primary or secondary open-angle or closed-angle glaucoma who underwent surgery were included in this study. Finally, 534 operated eyes (362 and 172 eyes operated on before and during the pandemic, respectively) were examined. RESULTS: The number of glaucoma surgeries dropped by 50% during the pandemic compared to a similar pre-pandemic period, with a significant difference in the kind of procedure between the two groups (p < 0.001). The most common procedures in the pre-pandemic group were Ex-Press implantation (33.7%) and trabeculectomy (31.5%). Within the pandemic group, half of the eyes underwent trabeculectomy (50.0%), followed by Preserflo microshunt (11.6%), iStent (8.7%), and transscleral cyclophotocoagulation (TSCP) (8.7%). A significant difference in the average intraocular pressure was revealed among patients who qualified for surgery. CONCLUSION: The COVID-19 pandemic is associated with a decrease in the number of extended antiglaucoma procedures and an increase in the number of short procedures performed, such as TSCP and minimally invasive glaucoma surgery.Key MessagesOur study has shown the negative impact of the COVID-19 pandemic in reducing the number of antiglaucoma procedures.The number of glaucoma surgeries dropped by 50% during the pandemic compared to those in a similar pre-pandemic period, and the type of performed procedures has changed.The COVID-19 pandemic is associated with a decrease in the number of combined antiglaucoma procedures, in opposite: the number of minimally invasive glaucoma surgeries increased due to safety reasons.
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COVID-19 , Glaucoma , Adulto , Humanos , Pandemias , Estudos Retrospectivos , COVID-19/epidemiologia , Glaucoma/epidemiologia , Glaucoma/cirurgia , Pressão Intraocular , Resultado do TratamentoRESUMO
Rapid industrial and technological development has impacted ecosystem homeostasis strongly. Arsenic is one of the most detrimental environmental toxins and its management with chelating agents remains a matter of concern due to associated adverse effects. Thus, safer and more effective alternative therapy is required to manage arsenic toxicity. Based on existing evidence, native and indigenous plant-based active biomolecules appear as a promising strategy to mitigate arsenic-induced toxicity with an acceptable safety profile. In this regard, various phytochemicals (flavonoids and stilbenoids) are considered important classes of polyphenolic compounds with antioxidant and chelation effects, which may facilitate the removal of arsenic from the body more effectively and safely with regard to conventional approaches. This review presents an overview of conventional chelating agents and the potential role of flavonoids and stilbenoids in ameliorating arsenic toxicity. This report may provide a roadmap for identifying novel prophylactic/therapeutic strategies for managing arsenic toxicity.
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Intoxicação por Arsênico , Arsênio , Estilbenos , Antioxidantes/uso terapêutico , Arsênio/toxicidade , Intoxicação por Arsênico/tratamento farmacológico , Quelantes/uso terapêutico , Ecossistema , Flavonoides/farmacologia , Flavonoides/uso terapêutico , Humanos , Compostos Fitoquímicos/uso terapêutico , Estilbenos/uso terapêuticoRESUMO
The aim of this study was to evaluate the impact of the coronavirus disease 2019 (COVID-19) pandemic on ophthalmology residency training in Poland. An anonymous self-administered online survey involving polish ophthalmology residents was conducted between February 15 and 28, 2021. Of the 126 residents who completed the survey, 88.9% (n = 112) and 89.7% (n = 113) felt that the COVID-19 pandemic had negatively impacted their surgical training and overall training programs, respectively. Trainees providing care to patients with COVID-19 and female trainees indicated a greater negative impact of the pandemic on the implementation of the specialization program (p = 0.008 and p = 0.015, respectively) and on the acquisition of practical skills (p = 0.014 and p = 0.021, respectively). Approximately 94% (n = 118) of the residents surveyed participated in virtual training during the pandemic, and 99.2% (n = 124) positively assessed the content and usefulness of online teaching in everyday clinical practice. The most common platforms used for online meetings were Zoom (62.7%, n = 79) and Microsoft Teams (50.8%, n = 64). Approximately 79% (n = 99) of residents believed that, after the pandemic is over, at least some of the training courses and conferences should be conducted online. In addition, 13.5% (n = 17) of residents reported that they would like to undergo training and specialization courses in virtual form only after the pandemic is over. In summary, the present findings indicate that the COVID-19 pandemic negatively impacted the implementation of the ophthalmology specialization program in Poland, with the greatest impact on surgical training. Trainees providing care to patients with COVID-19 are more likely to negatively assess the impact of the pandemic on the training process. Replacing traditional training with virtual methods was positively received by residents and considered very useful, and most residents reported a desire to maintain virtual training in ophthalmology in the future.
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COVID-19/epidemiologia , Educação a Distância , Internato e Residência , Oftalmologia/educação , Pandemias , SARS-CoV-2 , Adulto , Feminino , Humanos , Masculino , Polônia/epidemiologiaRESUMO
This study aimed to evaluate the acceptability of coronavirus disease of 2019 (COVID-19) vaccination among ophthalmology residents in Poland. An online, self-administered, anonymous survey was distributed among Polish ophthalmology residents in early 2021. Of 126 residents who completed the survey, 71.4% indicated that they would get vaccinated, 17.5% were unsure, and 11.1% would refuse vaccination. Married respondents with children (p = 0.036) and respondents living with their families (p = 0.310) were more likely to accept vaccination, believing that the vaccine is effective (p = 0.002 and p = 0.001, respectively), and fearing for themselves (p = 0.031 and p = 0.023, respectively) or their families (p = 0.032 and 0.055, respectively) getting infected. Respondents who contracted COVID-19 often reported the expected relief in sanitization (p = 0.011) as their reason for vaccination, and the previous severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection (p = 0.050) as their reason for not vaccinating. Unmarried residents and residents living alone often declared that they were waiting for the effectiveness and long-term complications of the vaccine to be assessed (p = 0.005, both). Residents living with their families were significantly less likely to report COVID-19 as the reason for refusing vaccination (p = 0.022). In conclusion, most ophthalmology residents expressed a willingness to get vaccinated. Marital status and cohabitants affect vaccination acceptance. People with COVID-19 have different reasons for accepting or refusing vaccination. Medical authorities should persuade citizens more to vaccinate.
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The ongoing outbreak of the coronavirus disease 2019 (COVID-19) pandemic has drastically affected medical societies. We aim to provide an overview and summarize the information published so far concerning the impact of the COVID-19 pandemic on ophthalmology residency programs and the mental wellbeing of trainees, and to establish factors to help maintain successful residency training to ensure high-quality, specialist ophthalmic training. A literature search was conducted in October 2021 of the PubMed database for articles assessing the impact of the COVID-19 pandemic on the mental health of ophthalmology trainees and on ophthalmology residency programs. Cross-sectional survey studies, editorials, articles in scientific journals, letters to editors, and commentaries were considered; finally, 19 studies were included after excluding abstract-only publications and conference posters. The studies' demographic details, participant characteristics, interventions, outcomes, and limitations were extracted. Our summarized information showed the alarmingly significant impact of the COVID-19 pandemic on ophthalmology trainees' mental health and the associated considerable changes in ophthalmic training programs. Thus, in future, virtual training and surgical simulators should be permanently introduced, in addition to traditional teaching, to complete successful ophthalmology residency programs. Additionally, we emphasize the need for a widely facilitated and encouraged access to psychological support programs for healthcare workers, including ophthalmologists.