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1.
Front Nutr ; 11: 1267979, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38450229

RESUMEN

Background: The clinical manifestations of vitamin A deficiency (VAD) involve night blindness, bitot's spots, corneal xerosis, and corneal scars. It is the most important cause of preventable childhood blindness among children and causes morbidity and mortality. Even though Ethiopia implemented high-potency vitamin A supplements, the occurrence of VAD remains significant. This study was to identify determinants of clinical VAD among preschool-aged children (PSC) in southwest Ethiopia. Method: A community-based survey was conducted among 411 randomly selected PSCs. A pretested and structured questionnaire coupled with clinical observation for signs of vitamin A deficiency by a trained ophthalmologist was used to collect the data. An anthropometric measurement of height was taken and analyzed using WHO Anthro to calculate Z-scores for each index. The public health significance of VAD was declared after comparison with international references. A bi-variable and multi-variable logistic analysis was done. We reported the adjusted odds ratio (AOR), 95% confidence interval, and p-value. Result: A total of 411 children were screened for clinical VAD, and the overall prevalence was 2.2% (95% CI: 1.5-2.5). Of which, night blindness affects 1.2%, bitot's spots affects 0.7%, and corneal xerosis affects 0.2%, indicating a major public health problem compared to the international reference. The odds of clinical VAD were 81% lower among children who received vitamin A supplementation (VAS; AOR = 0.19, 95% CI: 0.04-0.92). On the other hand, PSC of mothers who had attended ANC visits were 89% less likely to develop clinical VAD (AOR = 0.11, 95% CI: 0.02-0.53). In addition, the study revealed that the odds of developing clinical VAD are 82% lower among PSC aged 36 to 47 months (AOR = 0.18; 95% CI: 0.03-0.97). Conclusion: The prevalence of clinical VAD among PSC is a public health problem and is associated with ANC visits, VAS status, and the age of the child, which could be used to target interventions to further reduce existing VAD. Further studies using reliable dietary intake and biomarker data could further depict the burden of subclinical VAD.

2.
Front Med (Lausanne) ; 11: 1349093, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38439905

RESUMEN

Childhood blindness is an issue of global health impact, affecting approximately 2 million children worldwide. Vision 2020 and the United Nations Sustainable Development Goals previously identified childhood blindness as a key issue in the twentieth century, and while public health measures are underway, the precise etiologies and management require ongoing investigation and care, particularly within resource-limited settings such as sub-Saharan Africa. We systematically reviewed the literature on childhood blindness in West Africa to identify the anatomic classification and etiologies, particularly those causes of childhood blindness with systemic health implications. Treatable causes included cataract, refractive error, and corneal disease. Systemic etiologies identified included measles, rubella, vitamin A deficiency, and Ebola virus disease. While prior public health measures including vitamin A supplementation and vaccination programs have been deployed in most countries with reported data, multiple studies reported preventable or reversible etiologies of blindness and vision impairment. Ongoing research is necessary to standardize reporting for anatomies and/or etiologies of childhood blindness to determine the necessity of further development and implementation of public health measures that would ameliorate childhood blindness and vision impairment.

3.
Children (Basel) ; 11(2)2024 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-38397342

RESUMEN

The fundamental role of vision during development and the nurturing role of early intersubjectivity have enabled the Robert Hollman Foundation to develop an early intervention program providing holistic support to visually impaired children and their families, where fostering parent-infant interactions is at the heart of our care. The aim of this study is to understand how parents perceive this approach. It is an eleven-year retrospective study of children following the Robert Hollman Foundation's early intervention program, in which parents' (n = 1086) perceptions of quality of care were measured through the administration of a specifically designed 4-point scale questionnaire. Annual longitudinal trends of parents' perceptions were calculated for every single response. Parents reported a very high satisfaction value in 21/23 questions (Mean > 3.7 out of a maximum score of 4, with the highest scores in human and soft skills of professionals) with a statistically positive trend (p < 0.05), throughout the period considered. Our core approach, based on an individualized nurturing relational support, has been appreciated and confirmed by the high satisfaction reported in the questionnaires by parents of children with visual impairment. We therefore hypothesize that parent-infant relationship-based and individualized approaches may help parents achieve better health, well-being, and quality of daily life for their children.

4.
Curr Diabetes Rev ; 20(9): e240124225997, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38275038

RESUMEN

Diabetic retinopathy (DR) is the most common microvascular complication of diabetes that damages the retina, leading to blindness. People with type 1 diabetes are at greater risk of developing DR than people with type 2 diabetes. Diabetic retinopathy may be divided into two primary categories: Proliferative diabetic retinopathy (PDR) and non-proliferative diabetic retinopathy (NPDR). There are multiple risk factors for the onset and progression of diabetic retinopathy, such as hypertension, obesity, smoking, duration of diabetes, and genetics. Numerous investigations have evaluated the levels of a wide range of inflammatory chemokines within DR patients' serum, vitreous, and aqueous fluids. In diabetic retinopathy, the vitreous fluid exhibited rises in angiogenic factors like platelet-derived growth factor (PDGF) or vascular endothelial growth factor (VEGF) or declines in antiangiogenic factors like pigment epithelium-derived factor (PEDF). For prevention of diabetic retinopathy, more physical activity as well as less sedentary behavior were linked to a reduced likelihood of DR. Supplementing with nutraceuticals containing vitamins (B1, B2, B6, B12, C, D, E, and l-methyl folate) and mineral (zinc) can help decrease or avoid an outbreak of DR. Only laser photocoagulation and Anti-vascular endothelial growth factor (Anti-VEGF) injections are advised as favorable therapies in severe retinopathy. When it comes to treating DR's VEGF levels, inflammation, oxidative stress, apoptosis, and angiogenesis, Traditional Chinese medicine (TCM) has an excellent future.


Asunto(s)
Ceguera , Retinopatía Diabética , Humanos , Retinopatía Diabética/etiología , Retinopatía Diabética/epidemiología , Ceguera/etiología , Ceguera/prevención & control , Factores de Riesgo , Factor A de Crecimiento Endotelial Vascular , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 1/complicaciones
5.
J Ocul Pharmacol Ther ; 39(9): 585-599, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37738326

RESUMEN

Currently, corneal blindness is affecting >10 million individuals worldwide, and there is a significant unmet medical need because only 1.5% of transplantation needs are met globally due to a lack of high-quality grafts. In light of this global health disaster, researchers are developing corneal substitutes that can resemble the human cornea in vivo and replace human donor tissue. Thus, this review examines ROCK (Rho-associated coiled-coil containing protein kinases) inhibitors as a potential corneal wound-healing (CWH) therapy by reviewing the existing clinical and nonclinical findings. The systematic review was done from PubMed, Scopus, Web of Science, and Google Scholar for CWH, corneal injury, corneal endothelial wound healing, ROCK inhibitors, Fasudil, Netarsudil, Ripasudil, Y-27632, clinical trial, clinical study, case series, case reports, preclinical study, in vivo, and in vitro studies. After removing duplicates, all downloaded articles were examined. The literature search included the data till January 2023. This review summarized the results of ROCK inhibitors in clinical and preclinical trials. In a clinical trial, various ROCK inhibitors improved CWH in individuals with open-angle glaucoma, cataract, iris cyst, ocular hypertension, and other ocular diseases. ROCK inhibitors also improved ocular wound healing by increasing cell adhesion, migration, and proliferation in vitro and in vivo. ROCK inhibitors have antifibrotic, antiangiogenic, anti-inflammatory, and antiapoptotic characteristics in CWH, according to the existing research. ROCK inhibitors were effective topical treatments for corneal infections. Ripasudil, Y-27632, H-1152, Y-39983, and AMA0526 are a few new ROCK inhibitors that may help CWH and replace human donor tissue.


Asunto(s)
Lesiones de la Cornea , Trasplante de Córnea , Glaucoma de Ángulo Abierto , Humanos , Endotelio Corneal/metabolismo , Glaucoma de Ángulo Abierto/metabolismo , Lesiones de la Cornea/metabolismo , Quinasas Asociadas a rho/metabolismo
6.
Diving Hyperb Med ; 53(3): 224-229, 2023 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-37718296

RESUMEN

Introduction: This study analysed the treatment outcomes of patients that received hyperbaric oxygen treatment (HBOT) for retinal artery occlusion (RAO) at the Royal Brisbane and Women's Hospital in Brisbane, Australia between 2015 and 2021. Methods: Retrospective study from patient records including 22 eyes from 22 patients that received HBOT for either central RAO (17 patients) or branch RAO (five patients). Patients received the Royal Brisbane and Women's Hospital RAO protocol for their HBOT. Analysis included best corrected visual acuity pre- and post-treatment, subjective improvements, side effects and patient risk factors were also recorded. Results: Improvement in best corrected visual acuity was LogMAR -0.2 for central RAO on average with 8/17 (47%) experiencing objective improvement, 5/17 (29%) experienced no change and 4/22 (24%) experienced a reduction in best corrected visual acuity. Subjective improvement (colour perception or visual fields) was reported in an additional 4/17 patients, resulting in 12/17 (71%) reporting improvement either in visual acuity or subjectively. There was no improvement in the best corrected visual acuity of any of the five patients suffering from branch RAO. Cardiovascular risk factors present in the cohort included hypertension, hypercholesterolaemia, previous cardiovascular events, cardiac disease and smoking. Limited side effects were experienced by this patient cohort with no recorded irreversible side effects. Conclusions: Hyperbaric oxygen treatment appears a safe, beneficial treatment for central RAO. No benefit was demonstrated in branch RAO although numbers were small. Increased awareness of HBOT for RAO resulting in streamlined referrals and transfers and greater uptake of this intervention may further improve patient outcomes.


Asunto(s)
Oxigenoterapia Hiperbárica , Oclusión de la Arteria Retiniana , Humanos , Femenino , Oxígeno , Estudios Retrospectivos , Australia , Oclusión de la Arteria Retiniana/terapia , Hospitales
7.
Plants (Basel) ; 12(15)2023 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-37570924

RESUMEN

The study tracks the utilization of Ocimum basilicum L. (sweet basil)-a garden plant popular for its ritual and ornamental value in the past, that is currently applied in various forms and ways as medicine, food, insect repellent, etc.-in Bulgaria. Previous data for Bulgarian rural home gardens showed a significant number of preserved local landraces; however, it remained unclear how people perceive the large varietal diversity of this species and how the traditions related to its use are preserved. We combined a literature review on the cultural value of sweet basil and the breeding of local genetic resources with an online questionnaire, directed to adult laypeople, that sought to access different aspects of past (recalled) and present use and related knowledge. The identification skills of the participants were tested using images of local plant landraces and foreign varieties. Responses from 220 participants showed that potted "Genovese"-type individual was most frequently identified as sweet basil (89.9%), followed by two examples of local landraces in flower. Participants who grow sweet basil or used it in more varied ways had significantly better identification skills. Ocimum basilicum was most frequently reported as food, while ritual/symbolic use was preserved while devalued during the Communism regime (1945-1989). Food and religious uses were negatively associated in the past, but presently, the tendency is completely reversed. Preferences for the informal exchange of seeds and seed-saving practices were discussed.

8.
J Bodyw Mov Ther ; 35: 298-304, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37330784

RESUMEN

BACKGROUND: The loss of vision leads to behavioral and motor adaptations that do not necessarily translate to good functioning with regards to daily tasks. AIM: To investigate differences in functional mobility in adults with total blindness, and analyze differences in spatiotemporal gait variables with and without the use of a cane, and wearing shoes or barefoot. METHODS: We used an inertial measurement unit to assess the spatiotemporal parameters of the gait and functional mobility in seven subjects with total blindness and four sighted participants during the timed up and go test (TUG) test performed under conditions: barefoot/shod; and with/without a cane (blind subjects). RESULTS: Significant differences between groups were found in total TUG test time and in the sub-phases when the blind subjects executed the TUG barefoot and without a cane (p < .01). Other differences were found in trunk movement during sit-to-stand, and stand-to-sit where blind subjects when without cane and barefoot, they had a greater range of motion than sighted subjects (p < .01). Also, BMI has a moderate to strong influence in the execution of the TUG in blind subjects (p < .05) CONCLUSION: This study showed that, when using a gait-assistance device and wearing shoes, blind subjects have similar functional mobility and gait as sighted subjects, suggesting that an external haptic reference can compensate for the lack of vision. Knowledge of these differences can provide a better understanding of the adaptive behavior in this population, thereby assisting in minimizing the occurrence of trauma and falls.


Asunto(s)
Marcha , Equilibrio Postural , Humanos , Adulto , Estudios de Tiempo y Movimiento , Movimiento , Ceguera , Caminata
9.
Curr Mol Med ; 2023 06 02.
Artículo en Inglés | MEDLINE | ID: mdl-37272463

RESUMEN

Glaucoma is a group of diverse diseases characterized by cupping of the optic nerve head due to the loss of retinal ganglion cells. It is the most common cause of irreversible blindness throughout the word; therefore, its timely diagnosis and early detection through an ophthalmological examination are very important. We, herein, present the information on the epidemiology, pathophysiology, clinical diagnosis, and treatment of glaucoma. We also emphasize the investigations of the last decades that have allowed identifying numerous genes and susceptible genetic factors. We have also described in detail the genes whose mutations cause or contribute to the development of the disease.

10.
Heliyon ; 9(5): e16379, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37251817

RESUMEN

Onchocerciasis caused by Onchocerca volvulus Leuckart, 1893 is the second-world infection responsible for human blindness. Except Ivermectin which has as targets the microfilariae of that parasite, specific treatment for this disease does not exist and in developing countries, medicinal plants seem to remedy that health problem. For that, aqueous and hydro-ethanolic leaf, bark, and root extracts of Calotropis procera and Faidherbia albida were evaluated in vitro, against the most popular bovine model, Onchocerca ochengi and the free-resistant nematode Caenorhabditis elegans. O. ochengi microfilariae and adults extracted from the bovine nodules and skins as well as the free strains of C. elegans were exposed to the various concentrations of the plant parts extracts and Ivermectin. In results, all the plant parts extracts were rich in tannins, saponins, alkaloids, flavonoids, phenols, coumarins, and glycosides. Phenols (175.45 ± 0.01 mg EGA/g DM), flavonoids (158.98 ± 0.05 mg EC/g DM), and tannins (89.98 ± 2.56 mg ETA/g DM) contents were high in the bark hydro-ethanolic extract of F. albida. The leaf hydro-ethanolic extract of F. albida induced high activity against O. ochengi microfilariae (CL50 = 0.13 mg/mL). The bark hydro-ethanolic extract of F. albida was also the most effective on O. ochengi adults and particularly on female adults (CL50 = 0.18 mg/mL). Against the parasite strain resistant to Ivermectin, F. albida leaf hydro-ethanolic extract appeared more active with CL50 = 0.13 mg/mL. Similarly, the bark hydro-ethanolic extract of F. albida was the most potent on the wild strain of C. elegans. Thus, this study validates the use of these plants by traditional healers in the management of onchocerciasis and suggests a new source of isolation of the potential plant compounds against Onchocerca.

11.
Cureus ; 15(4): e37719, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37206537

RESUMEN

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.

12.
Adv Exp Med Biol ; 1436: 153-166, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37253944

RESUMEN

Mucormycosis is a rare but serious opportunistic fungal disease characterized by rhino-orbito-cerebral and pulmonary involvement. It is mainly seen in people with secondary immunosuppression, isolated vitamin A deficiency, measles, and AIDS patients. It showed a rise during the second wave of the COVID-19 epidemic in the spring of 2021 in India, especially in diabetic COVID-19 patients. Vitamin A deficiency is known to cause nutritional immunodeficiency and hence leading the way to increased opportunistic fungal, bacterial, and viral infections. In the eye, it causes keratitis, night blindness, xerophthalmia, conjunctivitis, Bitot spots, keratomalacia, and retinopathy. It also causes decreased tear secretion and deterioration of the anatomical/physiological defense barrier of the eye. The negative impact of vitamin A deficiency has been previously demonstrated in measles, AIDS, and COVID-19. We think that mucormycosis in COVID-19 might be rendered by vitamin A deficiency and that vitamin A supplementation may have preventive and therapeutic values against mucormycosis and other ocular symptoms associated with COVID-19. However, any vitamin A treatment regimen needs to be based on laboratory and clinical data and supervised by medical professionals.


Asunto(s)
Síndrome de Inmunodeficiencia Adquirida , COVID-19 , Oftalmopatías , Mucormicosis , Deficiencia de Vitamina A , Humanos , Mucormicosis/epidemiología , Deficiencia de Vitamina A/complicaciones , Vitamina A/uso terapéutico , Hongos
13.
Turk J Ophthalmol ; 53(2): 111-119, 2023 04 20.
Artículo en Inglés | MEDLINE | ID: mdl-37089032

RESUMEN

Various physiological systems and behaviors such as the sleep-wake cycle, vigilance, body temperature, and the secretion of certain hormones are governed by a 24-hour cycle called the circadian system. While there are many external stimuli involved the regulation of circadian rhythm, the most powerful environmental stimulus is the daily light-dark cycle. Blind individuals with no light perception develop circadian desynchrony. This leads to non-24-hour sleep-wake rhythm disorder, which is associated with sleep-wake disorders, as well as mood disorders and loss of appetite and gastrointestinal disturbances due to disrupted circadian hormone regulation. As the diagnosis is often delayed because of under-recognition in clinical practice, patients must cope with varying degrees of social and academic dysfunction. Most blind individuals report that non-24-hour sleep-wake rhythm disorder affects them more than blindness. In the treatment of totally blind patients suffering from non-24-hour sleep-wake rhythm disorder, the first-line management is behavioral approaches. Drug therapy includes melatonin and the melatonin agonist tasimelteon. Diagnosing blind individuals' sleep disorders is also relevant to treatment because they can be improved with the use of melatonin and its analogues or by phototherapy if they have residual vision. Therefore, assessing sleep problems and planning treatment accordingly for individuals presenting with blindness is an important issue for ophthalmologists to keep in mind.


Asunto(s)
Melatonina , Trastornos del Sueño del Ritmo Circadiano , Humanos , Melatonina/uso terapéutico , Trastornos del Sueño del Ritmo Circadiano/complicaciones , Trastornos del Sueño del Ritmo Circadiano/diagnóstico , Ceguera/diagnóstico , Ceguera/etiología , Periodicidad
14.
BMC Ophthalmol ; 23(1): 178, 2023 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-37098467

RESUMEN

INTRODUCTION: In countries where alcoholic beverages are legally prohibited, methanol toxicity usually occurs due to ingesting homemade alcoholic drinks. The initial ophthalmologic symptoms of methanol toxicity typically appear 6-48 h after ingestion, and the severity of symptoms varies widely from mild and painless decreased vision to no-light perception vision. METHODS: This prospective study examines 20 patients with acute methanol poisoning within 10 days of use. Patients underwent ocular examinations, BCVA (Best Corrected Visual Acuity) recording, and OCTA (Optical Coherence Tomography Angiography) of the macula and optic disc. BCVA measurement and imaging were repeated one month and three months after intoxication. RESULTS: There was a statistically significant reduction in superficial parafoveal vascular density (P-value = 0.026), inner retinal thickness (P-value = 0.022), RNFL (Retinal Nerve Fiber Layer) thickness (P-value = 0.031), and an increase in cup to disc ratio (P-value < 0.001), and central visual acuity (P-value = 0.002) in this time course. However, there was no statistically significant difference in FAZ (Foveal Avascular Zone) area (P-value = 0.309), FAZ perimeter (P-value = 0.504), FD-300 (Foveal density, vascular density within a 300 µm wide region of the FAZ) (P-value = 0.541), superficial vascular density (P-value = 0.187), deep foveal vascular density (P-value = 0.889), deep parafoveal vascular density (P-value = 0.830), choroidal flow area (P-value = 0.464), total retinal thickness (P-value = 0.597), outer retinal thickness (P-value = 0.067), optic disc whole image vascular density (P-value = 0.146), vascular density inside the disc (P-value = 0.864), or peripapillary vascular density (P-value = 0.680) at different times. CONCLUSION: Over time, methanol poisoning can cause changes in retinal layers thickness, vasculature, and optic nerve head. The most important changes include cupping of the optic nerve head, reduction in RNFL thickness, and inner retinal thickness.


Asunto(s)
Metanol , Enfermedades del Nervio Óptico , Humanos , Tomografía de Coherencia Óptica/métodos , Estudios Prospectivos , Vasos Retinianos/diagnóstico por imagen , Estudios de Casos y Controles , Angiografía/métodos , Angiografía con Fluoresceína/métodos
15.
Artículo en Inglés | MEDLINE | ID: mdl-36900883

RESUMEN

The increasing lifespan of the United States population has led to a rise in the prevalence of age-related chronic diseases, increasing the need for unpaid caregivers. Currently, little research is known about this specific population beyond the limited formal training unpaid caregivers receive on the caregiving process. Acquiring visual impairments (VI) later in life places a large emotional toll on both the loved one and their caregivers. The objectives of this pilot study were: (1) to implement a multimodal intervention targeted towards improving the quality of life of unpaid caregivers and their care recipients with visual impairments; (2) to evaluate the efficacy of the multimodal intervention in improving the quality of life of unpaid caregivers and their care recipients with visual impairments. A 10-week virtual intervention (e.g., tai chi, yoga, music) was implemented with 12 caregivers and 8 older adults with VI. The targeted outcomes of interest included: QoL, health, stress, burden, problem-solving, and barriers. In addition to surveys to inform the choice of the intervention, focus group interviews were conducted to obtain participants' perspectives on the effectiveness of the intervention. Results revealed many positive outcomes in the quality of life and well-being of the participants following the 10-week intervention. Overall, these results represent a promising program for unpaid caregivers of older adults with VI.


Asunto(s)
Cuidadores , Calidad de Vida , Humanos , Estados Unidos , Anciano , Cuidadores/psicología , Proyectos Piloto , Emociones , Trastornos de la Visión
16.
Hum Brain Mapp ; 44(5): 2039-2049, 2023 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-36661404

RESUMEN

Cross-modal plasticity in blind individuals has been reported over the past decades showing that nonvisual information is carried and processed by "visual" brain structures. However, despite multiple efforts, the structural underpinnings of cross-modal plasticity in congenitally blind individuals remain unclear. We mapped thalamocortical connectivity and assessed the integrity of white matter of 10 congenitally blind individuals and 10 sighted controls. We hypothesized an aberrant thalamocortical pattern of connectivity taking place in the absence of visual stimuli from birth as a potential mechanism of cross-modal plasticity. In addition to the impaired microstructure of visual white matter bundles, we observed structural connectivity changes between the thalamus and occipital and temporal cortices. Specifically, the thalamic territory dedicated to connections with the occipital cortex was smaller and displayed weaker connectivity in congenitally blind individuals, whereas those connecting with the temporal cortex showed greater volume and increased connectivity. The abnormal pattern of thalamocortical connectivity included the lateral and medial geniculate nuclei and the pulvinar nucleus. For the first time in humans, a remapping of structural thalamocortical connections involving both unimodal and multimodal thalamic nuclei has been demonstrated, shedding light on the possible mechanisms of cross-modal plasticity in humans. The present findings may help understand the functional adaptations commonly observed in congenitally blind individuals.


Asunto(s)
Ceguera , Lóbulo Occipital , Humanos , Ceguera/diagnóstico por imagen , Tálamo/diagnóstico por imagen , Lóbulo Temporal , Cuerpos Geniculados
17.
Int J Mol Sci ; 24(1)2023 Jan 02.
Artículo en Inglés | MEDLINE | ID: mdl-36614223

RESUMEN

The pathogenic variant p.G90D in RHO is believed to be responsible for a spectrum of phenotypes, including congenital stationary blindness (for the purpose of this study termed night blindness without degeneration; NBWD), Sector RP, Pericentral RP, and Classic RP. We present a correlation between the serum concentration of vitamin A and disease severity in patients with this variant. This prospective study involved 30 patients from 7 families (17 male; median age 46 years, range 8−73). Full ophthalmological examination including visual acuity, Goldmann perimetry, slit-lamp exam, optical coherence tomography, fundus autofluorescence, and electrophysiology was performed to determine the presenting phenotype. The serum concentration of vitamin A was determined from a fasting blood sample taken on the day of the exam, where it was found that 23.3% (7/30) of patients had NBWD, 13.3% (4/30) had Sector RP, 3.3% (1/30) had Pericentral RP, and 60% (18/30) had Classic RP. Multiple logistic regression revealed a significantly higher probability of having a milder phenotype (NBWD or Sector RP) in association with younger age (p < 0.05) and a higher concentration of vitamin A (p < 0.05). We hypothesize that vitamin A in its 11-cis-retinal form plays a role in stabilizing the constitutively active p.G90D rhodopsin and its supplementation could be a potential treatment strategy for p.G90D RHO patients.


Asunto(s)
Retinitis Pigmentosa , Vitamina A , Masculino , Humanos , Estudios Prospectivos , Electrorretinografía , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/diagnóstico , Fenotipo , Gravedad del Paciente , Mutación , Rodopsina/genética
18.
Atten Percept Psychophys ; 85(4): 1238-1252, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36008746

RESUMEN

Inattentional unawareness potentially occurs in several different sensory domains but is mainly described in visual paradigms ("inattentional blindness"; e.g., Simons & Chabris, 1999, Perception, 28, 1059-1074). Dalton and Fraenkel (2012, Cognition, 124, 367-372) were introducing "inattentional deafness" by showing that participants missed by 70% a voice repeatedly saying "I'm a Gorilla" when focusing on a primary conversation. The present study expanded this finding from the acoustic domain in a multifaceted way: First, we extended the validity perspective by using 10 acoustic samples-specifically, excerpts of popular musical pieces from different music genres. Second, we used as the secondary acoustic signal animal sounds. Those sounds originate from a completely different acoustic domain and are therefore highly distinctive from the primary sound. Participants' task was to count different musical features. Results (N = 37 participants) showed that the frequency of missed animal sounds was higher in participants with higher attentional focus and motivation. Additionally, attentional focus, perceptual load, and feature similarity/saliency were analyzed and did not have an influence on detecting or missing animal sounds. We could demonstrate that for 31.2% of the music plays, people did not recognize highly salient animal voices (regarding the type of acoustic source as well as the frequency spectra) when executing the primary (counting) task. This uncovered, significant effect supports the idea that inattentional deafness is even available when the unattended acoustic stimuli are highly salient.


Asunto(s)
Sordera , Música , Humanos , Animales , Atención , Cognición , Estimulación Acústica
19.
Percept Mot Skills ; 130(1): 419-433, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36457287

RESUMEN

Our aim in this study was to compare performance adaptations based on tactile or sonorous stimuli in para-judo athletes with congenital or acquired visual impairment. Twenty judo athletes with a type of visual impairment performed both the adapted Special Judo Fitness Test (SJFT) with tactile and sonorous stimuli and the standard SJFT. We used two-way ANOVA with repeated measurements in the second factor to compare the SJFT performance of athletes with visual impairment between two groups (acquired or congenital) in the two test situations, with the level of significance set at p < .05. Both groups of participants performed better on the adapted SJFT with tactile and sonorous stimuli compared to the standard condition on number of throws (p = .029 and p < .001) and showed lower final and post 1-minute heart rates (HR) (p < .05). There were no group differences in performance on any SJFT adaptations (p > .05). Thus, both SJFT adaptations (tactile and sonorous stimuli) enhanced the judo-specific performance of athletes with both acquired and congenital visual impairments. However, athletes with either origin of impairment showed a better HR in the adaptive tactile stimuli testing compared to the standard SJFT testing condition.


Asunto(s)
Rendimiento Atlético , Artes Marciales , Humanos , Rendimiento Atlético/fisiología , Rendimiento Físico Funcional , Atletas , Artes Marciales/fisiología , Trastornos de la Visión
20.
Rio de Janeiro; s.n; 2023. 142f p.
Tesis en Portugués | LILACS | ID: biblio-1532178

RESUMEN

O objetivo da tese é analisar as narrativas de oito mães de crianças cegas congênitas, matriculadas no Instituto Benjamin Constant. O estudo abrange itinerários terapêuticos, arranjos de cuidados e experiências maternas. Utilizaram-se os postulados teóricos sobre narrativas de Ricoeur e a análise foi feita sob o marco teórico de Bardin. Optou-se pelo itinerário terapêutico como método de pesquisa, por valorizar as histórias de vidas das mães que participaram da pesquisa. A narrativa reforçou a utilização de metodologias participativas e inclusivas, baseadas no respeito, na solidariedade e na cooperação. As narrativas mostraram que as mães, após o primeiro itinerário, que é na maternidade, encontram na figura do médico pediatra o auxílio que as orienta sobre quais os itinerários a percorrer. Em seguida, elas procuram o oftalmologista, mais especificamente o retinólogo e, também, o neuropediatra. A chegada ao IBC acontece depois da confirmação derradeira da cegueira do filho. As mães das crianças e adolescentes matriculados no IBC permanecem no espaço do Instituto, diariamente, enquanto seus filhos estão em aula ou em algum atendimento. Essa permanência se justifica por razão da distância entre o IBC e suas casas. A espera permite compartilharem, com outras mães, situações vivenciadas para o fortalecimento de vínculos de afetos, mas também existem tensões. O estudo apontou, ainda, que o discurso iatrogênico, com palavras ou ações de alguns médicos, causou ansiedade, desconfiança, confusão e sentimento de desrespeito. Outro dado relevante, encontrado por meio das narrativas, foi a dificuldade que encontraram ao transitarem nos espaços públicos com seus filhos, por causa de barreiras atitudinais. Ainda segundo as narrativas, o cuidado que elas dispensam quase que integralmente aos seus filhos (as), apesar de toda a sobrecarga que relatam, não é considerado um trabalho, pelo fato de não ser remunerado. As mães entendem que a tarefa de cuidar é um ato de amor para com o filho e, não, um trabalho. Por fim, a pesquisa também investigou os impactos que a pandemia de COVID 19 ocasionou nas vidas das mães e de seus filhos, surgindo como principais desafios o afastamento do espaço da escola e o manejo das aulas on-line. (AU)


The objective of the thesis is to study the narratives of eight mothers of congenitally blind children enrolled at the Benjamin Constant Institute. The study covers therapeutic journeys, care arrangements, and maternal experiences. Theoretical postulates on narratives by Ricoeur were utilized, and the analysis was conducted within the theoretical framework of Bardin. The therapeutic journey was chosen as the research method, as it values the life stories of the participating mothers. The narrative reinforced the use of participatory and inclusive methodologies based on respect, solidarity, and cooperation. The narratives showed that mothers, after the initial journey in maternity, seek guidance from pediatricians on the paths to take. They then consult ophthalmologists, specifically retinologists, and neuropediatricians. Arrival at the IBC occurs after the final confirmation of the child's blindness. Mothers of children and adolescents enrolled at the IBC stay at the Institute daily while their children are in class or receiving some form of assistance. This stay is due to the distance between the IBC and their homes. Waiting allows them to share experiences with other mothers, strengthening emotional bonds, but tensions also exist. The study also pointed out that iatrogenic discourse, with words or actions from some doctors, caused anxiety, mistrust, confusion, and feelings of disrespect. Another significant finding from the narratives was the difficulty they encountered when navigating public spaces with their children due to attitudinal barriers. According to the narratives, the care they provide to their children, despite the reported burden, is not considered work because it is unpaid. Mothers view caregiving as an act of love for their children, not as a job. Finally, the research also investigated the impacts of the COVID-19 pandemic on the lives of the mothers and their children, with the main challenges being the separation from the school environment and the management of online classes. (AU)


Asunto(s)
Humanos , Ceguera/congénito , Narrativa Personal , Ruta Terapéutica , Madres/psicología , Brasil , Cuidado del Niño , COVID-19
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