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1.
Artigo em Inglês | MEDLINE | ID: mdl-38978825

RESUMO

Background: The American Optometric Association defines computer vision syndrome (CVS), also known as digital eye strain, as "a group of eye- and vision-related problems that result from prolonged computer, tablet, e-reader and cell phone use". We aimed to create a well-structured, valid, and reliable questionnaire to determine the prevalence of CVS, and to analyze the visual, ocular surface, and extraocular sequelae of CVS using a novel and smart self-assessment questionnaire. Methods: This multicenter, observational, cross-sectional, descriptive, survey-based, online study included 6853 complete online responses of medical students from 15 universities. All participants responded to the updated, online, fourth version of the CVS questionnaire (CVS-F4), which has high validity and reliability. CVS was diagnosed according to five basic diagnostic criteria (5DC) derived from the CVS-F4. Respondents who fulfilled the 5DC were considered CVS cases. The 5DC were then converted into a novel five-question self-assessment questionnaire designated as the CVS-Smart. Results: Of 10 000 invited medical students, 8006 responded to the CVS-F4 survey (80% response rate), while 6853 of the 8006 respondents provided complete online responses (85.6% completion rate). The overall CVS prevalence was 58.78% (n = 4028) among the study respondents; CVS prevalence was higher among women (65.87%) than among men (48.06%). Within the CVS group, the most common visual, ocular surface, and extraocular complaints were eye strain, dry eye, and neck/shoulder/back pain in 74.50% (n = 3001), 58.27% (n = 2347), and 80.52% (n = 3244) of CVS cases, respectively. Notably, 75.92% (3058/4028) of CVS cases were involved in the Mandated Computer System Use Program. Multivariate logistic regression analysis revealed that the two most statistically significant diagnostic criteria of the 5DC were ≥2 symptoms/attacks per month over the last 12 months (odds ratio [OR] = 204177.2; P <0.0001) and symptoms/attacks associated with screen use (OR = 16047.34; P <0.0001). The CVS-Smart demonstrated a Cronbach's alpha reliability coefficient of 0.860, Guttman split-half coefficient of 0.805, with perfect content and construct validity. A CVS-Smart score of 7-10 points indicated the presence of CVS. Conclusions: The visual, ocular surface, and extraocular diagnostic criteria for CVS constituted the basic components of CVS-Smart. CVS-Smart is a novel, valid, reliable, subjective instrument for determining CVS diagnosis and prevalence and may provide a tool for rapid periodic assessment and prognostication. Individuals with positive CVS-Smart results should consider modifying their lifestyles and screen styles and seeking the help of ophthalmologists and/or optometrists. Higher institutional authorities should consider revising the Mandated Computer System Use Program to avoid the long-term consequences of CVS among university students. Further research must compare CVS-Smart with other available metrics for CVS, such as the CVS questionnaire, to determine its test-retest reliability and to justify its widespread use.

2.
J Environ Manage ; 360: 121117, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38733848

RESUMO

The ecological health of freshwater rivers is deteriorating globally due to careless human activities, for instance, the emission of plastic garbage into the river. The current research was the first assessment of microplastics (MPs) pollution in water, sediment, and representative organisms (fish, crustacean, and bivalve) from the Surma River. Water, sediment, and organisms were sampled from six river sites (Site 1: Charkhai; Site 2: Golapganj; Site 3: Alampur; Site 4: Kazir Bazar; Site 5: Kanishail and Site 6: Lamakazi), and major water quality parameters were recorded during sampling. Thereafter, MPs in water, sediment, and organism samples were extracted, and then microscopically examined to categorize selected MPs types. The abundance of MPs, as well as size, and color distribution, were estimated. Polymer types were analyzed by ATR-FTIR, the color loss of MPs was recorded, the Pollution Load Index (PLI) was calculated, and the relationship between MPs and water quality parameters was analyzed. Sites 4 and 5 had comparatively poorer water quality than other sites. Microplastic fibers, fragments, and microbeads were consistently observed in water, sediment, and organisms. A substantial range of MPs in water, sediment, and organisms (37.33-686.67 items/L, 0.89-15.12 items/g, and 0.66-48.93 items/g, respectively) was recorded. There was a diverse color range, and MPs of <200 µm were prevalent in sampling areas. Six polymer types were identified by ATR-FTIR, namely Polyethylene (PE), Polyamide (PA), Polypropylene (PP), Cellulose acetate (CA), Polyethylene terephthalate (PET), and Polystyrene (PS), where PE (41%) was recognized as highly abundant. The highest PLI was documented in Site 4 followed by Site 5 both in water and sediment. Likewise, Sites 4 and 5 were substantially different from other study areas according to PCA. Overall, the pervasiveness of MPs was evident in the Surma River, which requires further attention and prompt actions.


Assuntos
Monitoramento Ambiental , Microplásticos , Rios , Poluentes Químicos da Água , Qualidade da Água , Microplásticos/análise , Rios/química , Bangladesh , Poluentes Químicos da Água/análise , Plásticos/análise , Animais , Sedimentos Geológicos/análise , Sedimentos Geológicos/química
3.
Viruses ; 16(5)2024 05 06.
Artigo em Inglês | MEDLINE | ID: mdl-38793617

RESUMO

The cacao swollen shoot disease (CSSD) caused by a complex of badnavirus species presents a major challenge for cacao production in West Africa, especially Ghana and Côte d'Ivoire. In this study, CSSD species detection efficiency, diversity, and geographic distribution patterns in cacao plantations in Ghana and Côte d'Ivoire were investigated through field surveillance, PCR detection assays, sequencing of positive amplicons, and phylogeographic clustering. Cumulatively, the detection efficiency of the tested CSSD primer sets that were targeting the movement protein domain of the virus ranged from 0.15% (CSSD-3 primer) to 66.91% (CSSD-1 primer) on all the symptomatic cacao leaf samples assessed. The identified CSSD species differed phylogenetically and overlapped in distribution, with the cacao swollen shoot Togo B virus (CSSTBV) (n = 588 sequences) being the most prevalent and widely distributed compared to the other CSSD species that were encountered in both countries. Geographically, the cacao swollen shoot CE virus (CSSCEV) species (n = 124 sequences) that was identified was largely restricted to the bordering regions of Ghana and Côte d'Ivoire. These results provide updated knowledge of the geographic distribution of the key CSSD species and their diagnostic efficiency and, thus, provide guidance in identifying locations for structured testing of cacao germplasm and optimal diagnostics for the predominant CSSD species in Ghana and Côte d'Ivoire.


Assuntos
Badnavirus , Cacau , Filogenia , Doenças das Plantas , Cacau/virologia , Côte d'Ivoire/epidemiologia , Gana/epidemiologia , Badnavirus/genética , Badnavirus/isolamento & purificação , Badnavirus/classificação , Doenças das Plantas/virologia , Prevalência , Filogeografia
4.
Environ Pollut ; 345: 123548, 2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-38355089

RESUMO

Microplastics (MPs) have been recognized as emerging aquatic pollutants receiving major concern due to their detrimental effects on aquatic life. Nile Tilapia, Oreochromis niloticus is a model species considered in toxicological studies to address the effects of pollutants in freshwater animals. However, comprehensive knowledge comparing the impacts on fish across various MPs polymers is scarce. Therefore, the overarching aim of the current study was to examine the bioconcentration of MPs polymers: polyvinylchloride (PVC), polypropylene (PP), and polyethylene terephthalate (PET), and their toxic effects on growth, and behavioral responses, hematology, and histology of gills, liver, and intestine in O. niloticus. Fishes were subjected to a 21-day dietary exposure to MPs by assigning them into six treatment groups: T1 (4% of PVC), T2 (4% of PP), T3 (4% of PET), T4 (8% of PVC), T5 (8% of PP), T6 (8% of PET), and control (0% of MPs), to assess the effects on fish across the polymers and dosage. Results showed several abnormalities in anatomical and behavioral parameters, lower growth, and high mortality in MPs-exposed fish, indicating a dose-dependent relationship. The elevated dosage of polymers raised the bioavailability of PVC, PP, and PET in gills and gut tissues. Noteworthy erythrocyte degeneration referred to cytotoxicity and stress imposed by MPs, whereas the alterations in hematological parameters were possibly due to blood cell damage, also indicating mechanisms of defense against MPs toxicity. Histopathological changes in the gills, liver, and intestine confirmed the degree of toxicity and associated dysfunctions in fish. A higher sensitivity of O. niloticus to PET-MPs compared to other polymers is likely due to its chemical properties and species-specific morphological and physiological characteristics. Overall, the present study reveals valuable insights into the emerging threat of MPs toxicity in freshwater species, which could be supportive of future toxicological research.


Assuntos
Ciclídeos , Poluentes Ambientais , Hematologia , Poluentes Químicos da Água , Animais , Polipropilenos/toxicidade , Polietilenotereftalatos , Plásticos , Bioacumulação , Microplásticos , Poluentes Químicos da Água/toxicidade
5.
Acta Ophthalmol ; 102(1): e105-e116, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37140143

RESUMO

PURPOSE: To analyse long-term outcomes of standard cross-linking (SCXL), accelerated cross-linking (ACXL) and transepithelial cross-linking (TCXL) in the treatment of progressive paediatric keratoconus regarding stability, safety and efficacy. METHODS: This prospective multicentre randomized controlled trial included 97 eyes of 97 paediatric patients with stages I-III ABCD keratoconus grading system, who were randomized into three groups; SCXL group (control group, n = 32; 3 mW/cm2 × 30 min/5.4 J/cm2 ), ACXL (n = 33; 18 mW/cm2 × 5 min/5.4 J/cm2 ) and TCXL (n = 32; 18 mW/cm2 × 5 min/5.4 J/cm2 ). Subjective refraction, uncorrected and corrected visual acuity, keratometry and pachymetry measurements using corneal topography were recorded preoperatively and 1, 2 and 3 years postoperatively. RESULTS: SCXL group exhibited significant successive improvements in the mean visual, refractive and keratometric parameters throughout the entire postoperative 3 years while ACXL group exhibited significant improvements in visual and keratometric parameters in the first postoperative year that remained stable in second and third postoperative years. TCXL group exhibited significant progressive deterioration in all mean parameters compared to SCXL and ACXL (p < 0.0001). Both SCXL and ACXL revealed final 100% success rate with good stability while TCXL revealed final 22% failure rate with keratoconus progression (p < 0.0001). CONCLUSION: SCXL and ACXL were comparable in halting keratoconus progression and achieved good stability and safety; however, SCXL was more efficient than ACXL as it yielded greater significant postoperative mean visual, refractive and keratometric improvements achieving smoother corneal remodelling. Both SCXL and ACXL were much superior to TCXL. SCXL is the best CXL treatment option for paediatric keratoconus while ACXL is a good and effective alternative.


Assuntos
Ceratocone , Fotoquimioterapia , Criança , Humanos , Topografia da Córnea , Ceratocone/diagnóstico , Ceratocone/tratamento farmacológico , Fotoquimioterapia/métodos , Estudos Prospectivos , Raios Ultravioleta , Acuidade Visual
7.
Int J Health Sci (Qassim) ; 17(6): 28-38, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37929238

RESUMO

Objectives: The poor prognosis of oral squamous cell carcinoma (OSCC) is vastly due to late diagnosis. The oral submucosal fibrosis (OSMF) is often unnoticed pathology linked with high risk of malignancy. Recently, we demonstrated that the clinicopathological alterations in OSMF and OSCC patients were correlated with cancer stem cell (CSCs) markers (CD133 and CD44). However, the parallel alterations of interleukin-1 beta (IL-1ß) with CSCs expression are largely unexplored. Thus, we aimed to investigate the relationship between IL-1ß alterations and CSC marker expression in both OSMF and OSCC situations. Materials and Methods: A total of 135 people have signed up for the study. There were sixty each in OSMF and OSCC groups, as well as 15 healthy controls. Levels of serum IL-1ß were examined by ELISA. Immunohistochemistry (IHC) was used to examine the expression of CD133 and CD44. For evaluating differential CSCs expression, IHC scoring (0-4) was utilized. Results: The IHC results showed maximum subjects in the OSMF and OSCC displaying CD44 and CD133 positivity, although the extent of expression in terms of IHC scoring found variable. CD133 and CD44-positive subjects showed increased levels of IL-1ß in the OSMF and OSCC group. Nevertheless, the enhancement of IL-1ß is more pronounced in the OSCC cases. Further, we observed a direct link of IL-1ß levels with IHC scoring. Multivariate regression analysis demonstrated a significant role for CD44 and CD133 positivity in the increase of IL-1ß levels. Conclusion: We concluded that concurrent simultaneous changes in CSC biomarkers and IL-1ß may help with early detection of OSMF and OSCC conditions.

8.
Eur J Pharm Biopharm ; 191: 166-174, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37673316

RESUMO

Hydrogen sulphide (H2S) is an important gaseous signalling molecule with emerging roles as a neuroprotectant. The objective of this study was to investigate the feasibility of transdermal delivery of mitochondrial-targeted H2S donor, AP39 whilst investigating the ability of permeated AP39 on abrogating 6-hydroxydopamine (6-OH-dop)-induced mitochondrial dysfunction, as a model of Parkinson's disease, established in human neuroblastoma cells, SHSY-5Y. Aqueous hypromellose gels (5% w/v) were prepared with up to 10% v/v propylene glycol (PG) with 0.002% w/w AP39. AP39 permeation from formulations across excised murine skin into PBS was quantified over 24 h using HPLC-UV detection. Media was collected and applied to a microvasculature blood-brain-barrier (BBB) model to evidence AP39 permeability. Following, the permeate was applied to neuroblastoma cells SHSY-5Y to evidence its therapeutic potential in modulating the mitochondrial bioenergetics and antioxidant in response to 6-OH-dop-induced mitochondrial dysfunction. The presence of PG in gel formulations significantly increased the cumulative amount of AP39 permeated across murine skin over 24 h from 24.40 ± 2.39 % to 48.59 ± 2.93 %. Conditioned media applied to a microvasculature BBB model observed AP39 permeation across the barrier and H2S release. Finally, permeated AP39 enhanced parameters of mitochondrial bioenergetics in SHSY-5Y exposed to 6-OH-dop. Moreover, permeated AP39 abrogated mitochondrial-specific reactive oxygen species generation induced by 6-OH-dop. These findings demonstrate transdermal delivery of AP39 may provide a promising alternative to deliver this mitochondrial-targeted H2S donor and this approach allows the potential to cross the BBB reaching CNS organs in the treatment of neurodegenerative conditions such as Parkinson's disease. Moreover, our observations show that gels prepared with 10% v/v PG have the potential for use in conditions requiring rapid H2S delivery whereas gels without PG have potential for therapy requiring sustained H2S delivery.

9.
Heliyon ; 9(7): e17685, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37539196

RESUMO

The climbing perch, Anabas testudineus, is a nutritionally and economically significant food fish. The present study reveals the first comprehensive description of the life-history traits of A. testudineus scooped up through different traditional fishing gears from July 2020 to December 2020. Among the 120 collected specimens, the smallest and largest specimens were 8.5 cm-14.6 cm TL in Nilphamari and Patuakhali, respectively. The estimated b values for LLRs indicated positive allometric growth in all sampling points (b > 1.0). The LWRs of A. testudineus indicated positive allometric growth in the Gazipur and Nilphamari districts (b > 3.00) and negative allometric growth in the Patuakhali and Khulna districts (b < 3.00). A Wilcoxon sign-ranked test for WR showed no significant dissimilarity from 100, signifying the balanced habitat for A. testudineus. The estimated a3.0 was minimum in Khulna (0.0110) and maximum in Nilphamari (0.0825). "The Lm was estimated at 7.4032 (7.4) cm TL in Nilphamari and 8.86 (8.9) cm TL in Patuakhali". Nineteen of twenty morphometric measurements and ten of twelve meristic characters showed substantial variations (p < 0.0001). The principal component analysis indicated shape variation and explained 85.361% of the total variance and showed differences in TL, SL, HL, LBD, LE1, D1D2, A1A2, and VV2. The cluster heatmap demonstrates that the other stocks segregated Gazipur stock. Our findings reveal a significant dataset about intraspecific phenotypic differentiation, which will aid the long-term exploration and management of A. testudineus species in Bangladesh and its neighboring countries.

11.
BMC Zool ; 8(1): 10, 2023 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-37488631

RESUMO

Long-whiskered catfish Sperata aor is a freshwater catfish known for its supreme flesh quality and fast growth, whose captive-reared broodstock denotes a difficult challenge for aquaculture. The reproductive dysfunctions in long-whiskered catfish raised in tank conditions were observed by comparing tissue biochemical composition and ovarian histology of wild female broodstock. Sixty (60) female broodstocks were used in the current study, consisting of 30 reared at sandy-muddy soil tank bottoms in captive conditions and 30 wild individuals collected from the haor basin during the breeding season. The fish reproductive state was investigated using the biometric and reproductive parameters, biochemical composition and levels of amino acids in the different tissues, and histological analysis of ovarian development. Results revealed that the biometrical parameters of wild and captive female broodstocks exhibited no remarkable difference (p > 0.05). Nevertheless, the wild fish had remarkably higher (p < 0.05) GSI (8.73%), oocyte weight (0.45 mg/egg), and ripeness (27.08%) in comparison with captive-reared broodstock. The total length and body weight, body weight and ovary weight, ovipositor diameter and ovary weight, and GSI and HSI displayed a positive relationship with R2 = 1, R2 = 1, R2 = 0.993, and R2 = 0.973, respectively, for wild broodstock, while R2 = 0.994, R2 = 0.806, R2 = 0.804, and R2 = 0.896, respectively, for captive broodstock. Additionally, the proximate composition in oocytes and liver tissues in both broodstocks did not differ significantly (p > 0.05). However, two essential amino acids (EAA), i.e., lysine and phenylalanine, and two non-essential amino acids, i.e., glutamic acid and glycine, were highly significant differences (p < 0.05) in the oocytes and liver of wild broodstock compared to the captive-reared broodstock. On the other hand, the EAA, e.g., isoleucine, threonine, leucine, and arginine, were highly dominated in both wild and captive female brood oocytes and liver. The ovarian histological slides from each fish group showed three oocytes developmental stages that indicated the asynchronous-reproductive ovarian oocytes of this fish. This study may be useful to fully understand the factors affecting the spawning and reproduction of S. aor broodstock, crucial for management in captive conditions as well as conservation and protection for sustainable aquaculture management of S. aor.

12.
Environ Sci Pollut Res Int ; 30(35): 83388-83400, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37340162

RESUMO

The current study was conducted to comprehend the variation of the growth pattern and the physiological status of Pangasius pangasius (Hamilton, 1822) reared in the pond from July 2021 to September 2021. A total of 90 brood individuals were collected from the Meghna River and studied for the present experiment. The overall growth pattern for P. pangasius was isometric (b = 3.00) in the Meghna River, while the male fish showed positive (b > 3.00) and the female showed a negative allometric growth pattern (b < 3.00). The Fulton's condition factor (KF) value was greater than 1, indicating a healthy population and a habitat with abundant food sources. Moreover, the KF value was found to be substantially related to total body mass. On the other hand, both sexes of P. pangasius had relative weight average values of more than 100, simply indicates the fish is naturally obese and has enough stored energy to maintain its physiology. The calculated form factors suggested an elongated body shape, which is typical of many riverine fishes. In addition, a small number of morphological traits varied significantly in the current study. Likewise, in the case of morphometric features, the principal component analysis showed a considerable degree of connectedness between the male and female individuals. The blood values showed no significant difference between the sexes. This might result from feeding fish the same kind of food and maintaining them in the same environment. However, the higher temperature might have caused slight blood abnormalities in both sexes. The current findings strongly support raising this fish in captivity and would offer useful information for fish farm owners, entrepreneurs, stakeholders, and other concerns in Bangladesh and surrounding nations.


Assuntos
Peixes-Gato , Perciformes , Animais , Masculino , Feminino , Rios , Biometria , Bangladesh
13.
Toxics ; 11(6)2023 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-37368575

RESUMO

Pb is one of the most extensively used harmful heavy metals in Bangladesh, and its occurrence in waters affects aquatic organisms significantly. The tropical pearl mussel, Lamellidens marginalis, was exposed to different concentrations (T1 21.93 mgL-1, T2 43.86 mgL-1, and T3 87.72 mgL-1) of Pb(NO3)2 and was evaluated against a control C 0 mgL-1 of Pb(NO3)2, followed by a 96 h acute toxicity test. The LC50 value was recorded as 219.32 mgL-1. The physicochemical parameters were documented regularly for each treatment unit. The values of % SGR, shell weight, soft tissue wet weight, and weight gain remained statistically higher for the control group in comparison with the treatment. No mortality was noted for control units, while a gradually decreased survival rate was recorded for the different treatment groups. Fulton's condition factor was recorded as highest in the control and lowest in the T3 unit, while the condition indices did not vary between the control and treatment groups. The hemocyte was accounted as maximum in the control and T1, while minimum in T2 and T3. The serum lysosomal parameters also followed a similar pattern, and a significantly low level of lysosomal membrane stability, and serum lysosome activity was noted for T3 and T2 units in comparison to the control group. The histology of the gill, kidney, and muscle was well structured in the control group, while distinct pathologies were observed in the gill, kidney, and muscle tissue of different treatment groups. The quantitative comparison revealed that the intensity of pathological alteration increased as the dosage of Pb increased. The current study, therefore, indicated that intrusion of Pb(NO3)2 in the living medium significantly alters growth performance and hemocyte counts, and chronic toxicity induces histomorphological abnormalities in vital organs.

15.
Rev Bras Ortop (Sao Paulo) ; 58(2): 351-355, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37252313

RESUMO

Chronic distal radioulnar joint (DRUJ) dislocation has been treated historically with complex osteotomies and reconstructive procedures, often resulting in intractable stiffness and loss of function. It is desirable to use a technique of fixation that will not only restore the wrist biomechanics but also be cosmetically appealing to the individual. We present a novel technique of reduction and fixation of a chronically dislocated DRUJ in a 26-year-old male using a minimally invasive approach, with successful restoration of DRUJ function and no postoperative complications.

16.
Rev. bras. ortop ; 58(2): 351-355, Mar.-Apr. 2023. graf
Artigo em Inglês | LILACS | ID: biblio-1449808

RESUMO

Abstract Chronic distal radioulnar joint (DRUJ) dislocation has been treated historically with complex osteotomies and reconstructive procedures, often resulting in intractable stiffness and loss of function. It is desirable to use a technique of fixation that will not only restore the wrist biomechanics but also be cosmetically appealing to the individual. We present a novel technique of reduction and fixation of a chronically dislocated DRUJ in a 26-year-old male using a minimally invasive approach, with successful restoration of DRUJ function and no postoperative complications.


Resumo Luxação crônica da articulação radioulnar distal (ARUD) foi tratada historicamente com osteotomias complexas e procedimentos reconstrutivos, geralmente resultando em rigidez intratável e perda de função. É desejável usar uma técnica de fixação que não apenas restaure a biomecânica do punho, mas também seja esteticamente atraente para o indivíduo. Apresentamos uma nova técnica de redução e fixação de uma ARUD deslocada cronicamente em um homem de 26 anos, usando uma abordagem minimamente invasiva, com restauração bem-sucedida da função da ARUD e sem complicações pós-operatórias.


Assuntos
Humanos , Masculino , Adulto , Ortopedia/tendências , Traumatismos do Punho/cirurgia , Traumatismos do Punho/diagnóstico , Traumatismos do Punho/psicologia , Fixadores Externos
17.
Genes (Basel) ; 14(3)2023 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-36980871

RESUMO

The PARK2 gene is located on 6q26, encodes ubiquitin-E3- ligase, and is a transcriptional repressor of p53. It contains 12 exons. PARK2 copy number variants has been reported in various types of neurodevelopmental disorders, namely schizophrenia, Parkinson's disease (PD), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD). In this retrospective study, nine cases (five with microdeletion and four with microduplication) are reported with 6q26 deletion disrupting the PARK2 gene. Microdeletion sizes ranged between 215 Kb and 356 Kb, and duplication between 279 Kb and 726 Kb. These were present within the exons 7-10. Family follow up with FISH probes revealed paternal inheritance in two cases, maternal in two cases, and de novo origin in one case. Our results support previous studies showing that patients with PARK2 CNVs involving exons 5-12 might be more deleterious and cause a unique syndrome. Comprehensive analysis of additional case studies is needed to have a full characterization of this neurological disorder syndrome.


Assuntos
Transtorno do Espectro Autista , Transtornos do Neurodesenvolvimento , Doença de Parkinson , Ubiquitina-Proteína Ligases , Humanos , Transtorno do Espectro Autista/genética , Variações do Número de Cópias de DNA , Transtornos do Neurodesenvolvimento/genética , Doença de Parkinson/genética , Estudos Retrospectivos , Ubiquitina-Proteína Ligases/genética , Deleção de Genes , Duplicação Gênica
18.
Neurochem Res ; 48(7): 1981-1996, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36764968

RESUMO

Central nervous system (CNS)-related conditions are currently the leading cause of disability worldwide, posing a significant burden to health systems, individuals and their families. Although the molecular mechanisms implicated in these disorders may be varied, neurological conditions have been increasingly associated with inflammation and/or impaired oxidative response leading to further neural cell damages. Therefore, therapeutic approaches targeting these defective molecular mechanisms have been vastly explored. Hydrogen sulphide (H2S) has emerged as a modulator of both inflammation and oxidative stress with a neuroprotective role, therefore, has gained interest in the treatment of neurological disorders. H2S, produced by endogenous sources, is maintained at low levels in the CNS. However, defects in the biosynthetic and catabolic routes for H2S metabolism have been identified in CNS-related disorders. Approaches to restore H2S availability using H2S-donating compounds have been recently explored in many models of neurological conditions. Nonetheless, we still need to elucidate the potential for these compounds not only to ameliorate defective biological routes, but also to better comprehend the implications on H2S delivery, dosage regimes and feasibility to successfully target CNS tissues. Here, we highlight the molecular mechanisms of H2S-dependent restoration of neurological functions in different models of CNS disease whilst summarising current administration approaches for these H2S-based compounds. We also address existing barriers in H2S donor delivery by showcasing current advances in mediating these constrains through novel biomaterial-based carriers for H2S donors.


Assuntos
Sulfeto de Hidrogênio , Doenças do Sistema Nervoso , Humanos , Sulfeto de Hidrogênio/uso terapêutico , Sulfeto de Hidrogênio/metabolismo , Inflamação/metabolismo , Estresse Oxidativo , Oxirredução , Doenças do Sistema Nervoso/tratamento farmacológico
20.
Clin Ophthalmol ; 17: 123-134, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36644605

RESUMO

Purpose: To analyze the outcomes of screen-time reduction on the foveal responses that associates computer vision syndrome (CVS) using multifocal electroretinogram (mfERG) examination. Methods: This prospective multicenter cohort comparative study included 49 eyes of 49 medical students divided into two groups. Group A (control group) included 25 eyes with no CVS diagnosis while group B (CVS group) included 24 eyes with CVS diagnosis. All students responded to the valid and reliable CVS-Form 3 (CVS-F3) questionnaire and underwent complete ophthalmic and mfERG examinations twice at the time recruitment in the study and four weeks after strict reduction of the daily screen-hours to ≤1 screen-hour daily to document associated foveal responses. Results: We documented statistically significant reduction in foveal responses in CVS versus control groups in mean mfERG Rings 1, 2, and 5 with Quadrants 1, 2, and 4 (P=<0.0001, 0.0001, 0.0003, 0.001, 0.002, and 0.006, respectively). Following the screen-time reduction, the second mfERG examination revealed significant post-reduction improvements in foveal responses in CVS group particularly in mean mfERG Rings 1, 2, 3, and 5 with Quadrants 1 and 4 (P=<0.0001, <0.0001, 0.0005, 0.02, <0.0001, and 0.04, respectively). Conclusion: This study documented the screen-induced foveal dysfunction that associates CVS using mfERG examination, which revealed remarkable significant improvements in foveal responses in the 4 weeks following strict screen-time reduction. These improvements were also associated with corresponding improvements in the visual performances. We suggest that the potential screen-induced foveal dysfunction outcomes might be reversible with strict screen-time reduction. We also recommend that educational institutional policies should limit online education-hours and redesign the mandated computer system use program to guard against visual sequelae of CVS. Clinical Trials Registration: ClinicalTrials.gov (ID: NCT04405648).

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