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1.
Clin Neurophysiol ; 156: 228-241, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37988851

RESUMO

OBJECTIVE: We explored neural components in Electroencephalography (EEG) signals during a phonological processing task to assess (a) the neural origins of Baddeley's working-memory components contributing to phonological processing, (b) the unitary structure of phonological processing and (c) the neural differences between children with dyslexia (DYS) and controls (CAC). METHODS: EEG data were collected from sixty children (half with dyslexia) while performing the initial- and final- phoneme elision task. We explored a novel machine-learning-based approach to identify the neural components in EEG elicited in response to the two conditions and capture differences between DYS and CAC. RESULTS: Our method identifies two sets of phoneme-related neural congruency components capturing neural activations distinguishing DYS and CAC across conditions. CONCLUSIONS: Neural congruency components capture the underlying neural mechanisms that drive the relationship between phonological deficits and dyslexia and provide insights into the phonological loop and visual-sketchpad dimensions in Baddeley's model at the neural level. They also confirm the unitary structure of phonological awareness with EEG data. SIGNIFICANCE: Our findings provide novel insights into the neural origins of the phonological processing differences in children with dyslexia, the unitary structure of phonological awareness, and further verify Baddeley's model as a theoretical framework for phonological processing and dyslexia.


Assuntos
Dislexia , Fonética , Criança , Humanos , Dislexia/diagnóstico , Memória de Curto Prazo , Leitura
2.
Front Psychol ; 14: 1076501, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37408955

RESUMO

Objective: Naming speed, behaviorally measured via the serial Rapid automatized naming (RAN) test, is one of the most examined underlying cognitive factors of reading development and reading difficulties (RD). However, the unconstrained-reading format of serial RAN has made it challenging for traditional EEG analysis methods to extract neural components for studying the neural underpinnings of naming speed. The present study aims to explore a novel approach to isolate neural components during the serial RAN task that are (a) informative of group differences between children with dyslexia (DYS) and chronological age controls (CAC), (b) improve the power of analysis, and (c) are suitable for deciphering the neural underpinnings of naming speed. Methods: We propose a novel machine-learning-based algorithm that extracts spatiotemporal neural components during serial RAN, termed RAN-related neural-congruency components. We demonstrate our approach on EEG and eye-tracking recordings from 60 children (30 DYS and 30 CAC), under phonologically or visually similar, and dissimilar control tasks. Results: Results reveal significant differences in the RAN-related neural-congruency components between DYS and CAC groups in all four conditions. Conclusion: Rapid automatized naming-related neural-congruency components capture the neural activity of cognitive processes associated with naming speed and are informative of group differences between children with dyslexia and typically developing children. Significance: We propose the resulting RAN-related neural-components as a methodological framework to facilitate studying the neural underpinnings of naming speed and their association with reading performance and related difficulties.

4.
Front Genet ; 13: 977806, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36072665

RESUMO

Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses a diagnostic challenge as underlying pre-symptomatic "multisystem" disorders varying from benign to life-threatening should first be ruled out before nystagmus can be labeled as idiopathic. A multidisciplinary approach including multimodal ocular investigations and next-generation sequencing with whole-genome sequencing (WGS) or targeted gene panel testing is required to delineate the exact etiology. We report the clinical and genetic outcomes of 22 patients, from 22 unrelated families of diverse ethnicities, with IIN seen in the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between 2016 and 2022. Thirty-six percent (8/22) received a confirmed molecular diagnosis with eight mutations identified in two genes (seven in FRMD7 including one novel variant c.706_707del; p. [Lys236Alafs*66], and one in GPR143). This study expands the mutational spectrum of IIN and highlights the significant role of an integrated care pathway and broader panel testing in excluding underlying pathologies.

5.
Br Ir Orthopt J ; 18(1): 48-56, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35837367

RESUMO

Introduction: Nystagmus has been reported in up to 30% of people with Down Syndrome (DS), and yet is still not well understood. Our study aims to characterise the clinical features of patients with DS and nystagmus. Methods: A retrospective medical-records review was conducted of all patients with a diagnosis of DS and nystagmus seen at Moorfields Eye Hospital over a ten-year period. Results: Fifty-one subjects were identified, with complete data in 48. The mean age at presentation was 5.1 years (range 0-26 years). The mean binocular LogMAR visual acuity was 0.55(95%CI 0.53-0.57), mean refractive error was -1.8 Dioptre Sphere, DS (95% CI - 5.251.63) with -1.2 Dioptre Cylinder, DC (95% CI - 1.6-0.7). Ocular misalignment was found in 50% of patients. A diagnosis of Fusion Maldevelopment Nystagmus Syndrome (FMNS) was made in 6.3%, Infantile Nystagmus Syndrome (INS) in 8.4% and ABducting nystagmus/Inter-Nuclear Ophthalmoplegia (INO) in 2.1%. The descriptive term 'Manifest Horizontal Nystagmus'(MNH) was used in the majority, highlighting the difficulties in clinically differentiating the subtypes of nystagmus in DS. Eleven patients had associated cataract. Additional diagnoses unrelated to DS were made in 10.4%. Conclusions: The most frequent type of nystagmus in our cohort was 'presumed' INS. This study highlights the importance of differentiating between FMNS and INS (with a latent component), so that further investigations can be performed as appropriate. Almost 25% had associated cataract, and a further 10% other diagnoses un-associated to DS. Despite INS being known to be associated with DS, further investigations may be required in a small subset with true INS after careful clinical assessment and use of eye movement recordings (where available).

6.
J Gen Intern Med ; 37(8): 1877-1884, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-34472021

RESUMO

BACKGROUND: A small number of patients are disproportionally readmitted to hospitals. The Complex High Admission Management Program (CHAMP) was established as a multidisciplinary program to improve continuity of care and reduce readmissions for frequently hospitalized patients. OBJECTIVE: To compare hospital utilization metrics among patients enrolled in CHAMP and usual care. DESIGN: Pragmatic randomized controlled trial. PARTICIPANTS: Inclusion criteria were as follows: 3 or more, 30-day inpatient readmissions in the previous year; or 2 inpatient readmissions plus either a referral or 3 observation admissions in previous 6 months. INTERVENTIONS: Patients randomized to CHAMP were managed by an interdisciplinary team including social work, physicians, and pharmacists. The CHAMP team used comprehensive care planning and inpatient, outpatient, and community visits to address both medical and social needs. Control patients were randomized to usual care and contacted 18 months after initial identification if still eligible. MAIN MEASURES: Primary outcome was number of 30-day inpatient readmissions 180 days following enrollment. Secondary outcomes were number of hospital admissions, total hospital days, emergency department visits, and outpatient clinic visits 180 days after enrollment. KEY RESULTS: There were 75 patients enrolled in CHAMP, 76 in control. Groups were similar in demographic characteristics and baseline readmissions. At 180 days following enrollment, CHAMP patients had more inpatient 30-day readmissions [CHAMP incidence rate 1.3 (95% CI 0.9-1.8) vs. control 0.8 (95% CI 0.5-1.1), p=0.04], though both groups had fewer readmissions compared to 180 days prior to enrollment. We found no differences in secondary outcomes. CONCLUSIONS: Frequently hospitalized patients experienced reductions in utilization over time. Though most outcomes showed no difference, CHAMP was associated with higher readmissions compared to a control group, possibly due to consolidation of care at a single hospital. Future research should seek to identify subsets of patients with persistently high utilization for whom tailored interventions may be beneficial. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT03097640; https://clinicaltrials.gov/ct2/show/NCT03097640.


Assuntos
Hospitalização , Readmissão do Paciente , Serviço Hospitalar de Emergência , Humanos , Pacientes Internados
7.
Artigo em Inglês | MEDLINE | ID: mdl-38983530

RESUMO

Background: It is important to understand the pathophysiology of ocular myasthenia gravis (OMG) to improve treatment. Aim: To use modern video-oculography to characterise saccadic eye movements in patients with OMG, including anti-AChR, anti-MuSK, anti-LRP4, and seronegative OMG. Methods: In total, 21 patients with OMG and five age-matched healthy control subjects underwent video-oculography. Participants performed a sequence of horizontal saccades (3 minutes each) at ±5°, ± 10°, and ±20°, followed by 3 minutes of saccades directed at randomly presented targets at ±5°, ± 10°, and ±15°. We recorded the direction, amplitude, duration, peak, and average velocity of each saccade for each task for each participant. Results: Saccadic amplitude, duration, and average velocity were all lower in OMG patients than in control subjects (p < 0.021). Saccadic amplitude and velocity decreased over time, but this decrease was similar in OMG patients and control subjects. Fixation drift and ocular disparity tended to be greater in OMG patients than in control subjects. Saccadic intrusions occurred more frequently in OMG patients than in control subjects (p < 0.001). No significant effects of time or group by time on fixation drift or ocular disparity were found. Discussion: Saccadic velocities in OMG patients differed from those in normal control subjects, which suggests that OMG affects fast-twitch fibres, although fast-twitch fibres were still able to generate "twitch" or "quiver" movements in the presence of even severe ophthalmoplegia. Slow-twitch muscle fibres involved in gaze holding were also affected, accounting for increased fixation drift following saccades. Our objective finding of increased fixation drift and a larger number of saccadic intrusions mirror our anecdotal experience of patients with OMG who report significant diplopia despite minimal ophthalmoplegia on examination. Such microsaccades may be a surrogate for compensation of a gaze-holding deficit in MG.

8.
J Vis ; 21(13): 9, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34935877

RESUMO

Idiopathic infantile nystagmus syndrome is a disorder characterised by involuntary eye movements, which leads to decreased acuity and visual function. One such function is visual crowding - a process whereby objects that are easily recognised in isolation become impaired by nearby flankers. Crowding typically occurs in the peripheral visual field, although elevations in foveal vision have been reported in congenital nystagmus, similar to those found with amblyopia. Here, we examine whether elevated foveal crowding with nystagmus is driven by similar mechanisms to those of amblyopia - long-term neural changes associated with a sensory deficit - or by the momentary displacement of the stimulus through nystagmus eye movements. A Landolt-C orientation identification task was used to measure threshold gap sizes with and without either horizontally or vertically placed Landolt-C flankers. We assume that a sensory deficit should give equivalent crowding in these two dimensions, whereas an origin in eye movements should give stronger crowding with horizontal flankers given the predominantly horizontal eye movements of nystagmus. We observe elevations in nystagmic crowding that are above crowding in typical vision but below that of amblyopia. Consistent with an origin in eye movements, elevations were stronger with horizontal than vertical flankers in nystagmus, but not in typical or amblyopic vision. We further demonstrate the same horizontal elongation in typical vision with stimulus movement that simulates nystagmus. Consequently, we propose that the origin of nystagmic crowding lies in the eye movements, either through image smear of the target and flanker elements or through relocation of the stimulus into the peripheral retina.


Assuntos
Nistagmo Congênito , Aglomeração , Movimentos Oculares , Doenças Genéticas Ligadas ao Cromossomo X , Humanos , Campos Visuais
9.
Br Ir Orthopt J ; 17(1): 85-90, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34278223

RESUMO

AIM: To describe a case of acquired Periodic Alternating Nystagmus (PAN) with oscillopsia treated with botulinum toxin injections into four horizontal rectus muscles. METHOD: A 22-year-old woman presented with sudden onset PAN. The only abnormality found following extensive investigations was bilateral superior cerebellar peduncle atrophy on MRI. Various treatment options were discussed, with reasonable response to baclofen, less so to gabapentin. However, she was keen for a longer-term solution without medication-related adverse effects. She was offered weakening of all four horizontal rectus muscles recessions, either with botulinum toxin or surgery, and she opted for the former to simulate the effects of surgery. 2.5 units of Dysport were injected into each horizontal rectus muscle without adverse effect. RESULTS: Off all treatment, Snellen Visual Acuity (VA) was 6/12 in either eye with oscillopsia as a result of the PAN. Post-botulinum toxin VA was 6/5 and 6/6 on the right and left respectively, with both subjective and objective improvement in the nystagmus and oscillopsia. CONCLUSION: Botulinum toxin has an important role in the nystagmus and strabismus clinics. Depending on the circumstances, it may be used as either long term treatment, or for surgical planning to simulate the effects of surgery. In this case, the effects were equivalent to high dose of baclofen and four horizontal rectus muscles recessions, which she underwent when the effects of the botulinum toxin had worn off. Botulinum toxin could be considered as a treatment option in acquired PAN, particularly in women of childbearing age and/or if intolerant or refractory to medical treatment, but ideally not as a long-term treatment option.

10.
Eur J Ophthalmol ; 31(6): 2868-2875, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33951982

RESUMO

PURPOSE: To compare the 1-year outcomes of treat-and-extend and pro re nata (PRN) treatment regimens with aflibercept for polypoidal choroidal vasculopathy (PCV), by the means of visual acuity (VA), frequency of recurrence of polypoidal lesions and developed fibrosis, and the number of intravitreal injections, and thus to determine which one is preferable in the maintenance phase in PCV. METHODS: In our prospective study, only naive and previously untreated PCV patients were included. Initially one session of photodynamic therapy (PDT) and three monthly intravitreal injections of 2.0 mg aflibercept (IAIs) were applied in 38 eyes. After this loading phase, they were re-examined and 30 PCV eyes with no exudative phenomena were included in the study. They were divided in two groups; in the first one (16 patients) the PRN treatment modality of IAIs was applied, while in the second one (14 patients) the treat-and-extend regimen was applied. RESULTS: Over a 12-month period, VA significantly improved in treat-and-extend group (logMAR BCVA 0.41 ± 0.15 vs 0.57 ± 0.24 at baseline, p = 0.044), while in the PRN group VA remained stable (logMAR BCVA 0.70 ± 0.36 vs 0.65 ± 0.18 at baseline, p = 0.61). During the maintenance phase, the patients of treat-and-extend group did not encounter development/progression of fibrosis or any recurrent episodes, whereas the patients of PRN group had significantly more recurrent episodes (0 vs 1.37 ± 0.5, p < 0.001) and the frequency of development/progression of fibrosis was significantly higher (0% vs 44%, p = 0.02). However, the treat-and-extend treatment regimen was accompanied by significantly more administered IAIs (6 ± 0 vs 5.13 ± 1.08, p = 0.006). CONCLUSION: We highlighted the superiority of treat-and-extend regime with IAIs, which seems to yield better functional outcomes by preventing recurrence and subfoveal fibrosis, although a greater number of injections is required.


Assuntos
Inibidores da Angiogênese , Receptores de Fatores de Crescimento do Endotélio Vascular , Inibidores da Angiogênese/uso terapêutico , Seguimentos , Humanos , Injeções Intravítreas , Estudos Prospectivos , Proteínas Recombinantes de Fusão , Estudos Retrospectivos , Tomografia de Coerência Óptica , Resultado do Tratamento
11.
Genes (Basel) ; 12(4)2021 03 30.
Artigo em Inglês | MEDLINE | ID: mdl-33808351

RESUMO

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chédiak-Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene, GPR143. We report the clinical and genetic outcomes of 44 patients, from 40 unrelated families of diverse ethnicities, with query albinism presenting to the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between November 2017 and October 2019. Thirty-six were children (≤ 16 years) with a median age of 31 months (range 2-186), and eight adults with a median age of 33 years (range 17-39); 52.3% (n = 23) were male. Genetic testing using whole genome sequencing (WGS, n = 9) or a targeted gene panel (n = 31) gave an overall diagnostic rate of 42.5% (44.4% (4/9) with WGS and 41.9% (13/31) with panel testing). Seventeen families had confirmed mutations in TYR (n = 9), OCA2, (n = 4), HPS1 (n = 1), HPS3 (n = 1), HPS6 (n = 1), and GPR143 (n = 1). Molecular diagnosis of albinism remains challenging due to factors such as missing heritability. Differential diagnoses must include SLC38A8-associated foveal hypoplasia and syndromic forms of albinism.


Assuntos
Albinismo Ocular/diagnóstico , Albinismo Oculocutâneo/diagnóstico , Testes Genéticos/métodos , Mutação , Adolescente , Adulto , Albinismo Ocular/genética , Albinismo Oculocutâneo/genética , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Estudos Prospectivos , Sequenciamento Completo do Genoma/métodos , Adulto Jovem
12.
Int J Mol Sci ; 22(3)2021 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-33498813

RESUMO

Biallelic pathogenic variants in solute carrier family 38 member 8, SLC38A8, cause a pan-ocular autosomal recessive condition known as foveal hypoplasia 2, FVH2, characterised by foveal hypoplasia, nystagmus and optic nerve chiasmal misrouting. Patients are often clinically diagnosed with ocular albinism, but foveal hypoplasia can occur in several other ocular disorders. Here we describe nine patients from seven families who had molecularly confirmed biallelic recessive variants in SLC38A8 identified through whole genome sequencing or targeted gene panel testing. We identified four novel sequence variants (p.(Tyr88*), p.(Trp145*), p.(Glu233Gly) and c.632+1G>A). All patients presented with foveal hypoplasia, nystagmus and reduced visual acuity; however, one patient did not exhibit any signs of chiasmal misrouting, and three patients had features of anterior segment dysgenesis. We highlight these findings in the context of 30 other families reported to date. This study reinforces the importance of obtaining a molecular diagnosis in patients whose phenotype overlap with other inherited ocular conditions, in order to support genetic counselling, clinical prognosis and family planning. We expand the spectrum of SLC38A8 mutations which will be relevant for treatment through future genetic-based therapies.


Assuntos
Sistemas de Transporte de Aminoácidos Neutros/genética , Oftalmopatias Hereditárias/genética , Fóvea Central/patologia , Mutação , Doenças Retinianas/genética , Alelos , Sequência de Aminoácidos , Sistemas de Transporte de Aminoácidos Neutros/química , Sistemas de Transporte de Aminoácidos Neutros/metabolismo , Anormalidades do Olho , Oftalmopatias Hereditárias/patologia , Feminino , Humanos , Masculino , Linhagem , Domínios Proteicos , Doenças Retinianas/patologia , Acuidade Visual , População Branca/genética , Sequenciamento Completo do Genoma
13.
Eur J Hum Genet ; 29(2): 349-355, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33024313

RESUMO

PAX6 is considered the master regulator of eye development, the majority of variants affecting this gene cause the pan-ocular developmental eye disorder aniridia. Although no genotype-phenotype correlations are clearly established, missense variants affecting the DNA-binding paired domain of PAX6 are usually associated with non-aniridia phenotypes like microphthalmia, coloboma or isolated foveal hypoplasia. In this study, we report two missense heterozygous variants in the paired domain of PAX6 resulting in isolated foveal hypoplasia with nystagmus in two independent families: c.112 C > G; p.(Arg38Gly) and c.214 G > C; p.(Gly72Arg) in exons 5 and 6, respectively. Furthermore, we provide evidence that paternal postzygotic mosaicism is the cause of inheritance, with clinically unaffected fathers and reduced affected allele fraction. This work contributes to increase the phenotypic spectrum caused by PAX6 variants, and to our knowledge, is the first report to describe the presence of postzygotic parental mosaicism causing isolated foveal hypoplasia with nystagmus. These results support the growing evidence that suggest an overestimation of sporadic cases with PAX6 variants, which has strong implications for both genetic counselling and family planning.


Assuntos
Oftalmopatias Hereditárias/genética , Fóvea Central/anormalidades , Mosaicismo , Mutação de Sentido Incorreto , Nistagmo Congênito/genética , Nistagmo Patológico/genética , Fator de Transcrição PAX6/genética , Adolescente , Adulto , Aniridia/genética , Coloboma , Proteínas do Olho/genética , Feminino , Estudos de Associação Genética , Testes Genéticos , Genótipo , Humanos , Masculino , Microftalmia/genética , Pessoa de Meia-Idade , Mutação , Pais , Linhagem , Fenótipo , Adulto Jovem
14.
Curr Eye Res ; 46(2): 263-270, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32615805

RESUMO

PURPOSE: Conventional static visual acuity testing profoundly underestimates the impact of infantile nystagmus on functional vision. The slow-to-see phenomenon explains why many patients with nystagmus perform well in non-time restricted acuity tests but experience difficulty in certain situations. This is often observed by parents when their child struggles to recognise familiar faces in crowded scenes. A test measuring more than visual acuity could permit a more real-world assessment of visual impact and provide a robust outcome measure for clinical trials. METHODS: Children with nystagmus and, age and acuity matched controls attending Southampton General Hospital were recruited for two tasks. In the first, eye-tracking measured the time participants spent looking at an image of their mother when alongside a stranger, this was then repeated with a sine grating and a homogenous grey box. Next, a tablet-based app was developed where participants had to find and press either their mother or a target face from up to 16 faces. Here, the response time was measured. The tablet task was refined over multiple iterations. RESULTS: In the eye-tracking task, controls spent significantly longer looking at their mother and the grating (P < .05). Interestingly, children with nystagmus looked significantly longer at the grating (P < .05) but not their mother (P > .05). This confirmed a facial target was key to further development. The tablet-based task demonstrated that children with nystagmus take significantly longer to identify the target; this was most pronounced using a 3-min test with 12-face displays. CONCLUSION: This study has shown a facial target is key to identifying the time-to-see deficit in infantile nystagmus and provides the basis for an outcome measure for use in clinical treatment trials.


Assuntos
Técnicas de Diagnóstico Oftalmológico , Movimentos Oculares/fisiologia , Nistagmo Patológico/fisiopatologia , Visão Binocular/fisiologia , Acuidade Visual , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Nistagmo Patológico/diagnóstico , Estudos Retrospectivos , Síndrome
15.
BMJ Case Rep ; 13(11)2020 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-33257370

RESUMO

Lactobacillus species may translocate from the gastrointestinal tract into systemic circulation from ingested probiotics or commensal flora. Their pathogenic potential is still debated. Lactobacillus endocarditis is a rare entity with only around 120 cases reported in the literature. Here, we report the first case of fatal Lactobacillus endocarditis with involvement of a transcatheter aortic valve replacement with the following goals: to reaffirm the pathological significance of Lactobacillus spp, to demonstrate the potential limitations of the modified Duke criteria in diagnosing infective endocarditis of transcatheter aortic valve replacement, and to urge clinicians to aggressively search for and consider empiric treatment for endocarditis in patients with prosthetic valves who develop Lactobacillus bacteraemia.


Assuntos
Endocardite Bacteriana/microbiologia , Infecções por Bactérias Gram-Positivas , Lactobacillus , Infecções Relacionadas à Prótese/microbiologia , Substituição da Valva Aórtica Transcateter , Idoso de 80 Anos ou mais , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/etiologia , Endocardite Bacteriana/complicações , Evolução Fatal , Infecções por Bactérias Gram-Positivas/complicações , Infecções por Bactérias Gram-Positivas/microbiologia , Próteses Valvulares Cardíacas/efeitos adversos , Humanos , Masculino , Infecções Relacionadas à Prótese/complicações
16.
Ann Nutr Metab ; 76(5): 322-333, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33075782

RESUMO

PURPOSE: The interaction of diet with gut microbiome has been implicated in the onset of cardiovascular disease. The gut microbiome displays diurnal rhythms, which may be influenced by meal timing. OBJECTIVE: This study aimed to investigate the effect of the timing of main meal consumption on the microbiome and cardiometabolic biomarkers of the host. METHODS: Seventeen healthy adults randomly consumed an isocaloric diet for 7 days, twice, by alternating lunch with dinner meals, and with a 2-week washout in-between. Sixty percent of the participants' daily energy requirements was consumed either as lunch or dinner, respectively. Meals were provided free to the participants. All fecal samples produced the last 3 days of each intervention were collected and analyzed for microbial profiling (16S rRNA gene amplicon sequencing), quantitative estimation of representative bacterial groups (qPCR) of the gut microbiome, and the output of short-chain fatty acids (SCFA) in feces. Fasted blood samples were analyzed for low-grade inflammatory biomarkers, blood lipids, insulin, and glucose levels. Cumulative energy loss in feces was measured over the collection period using bomb calorimetry. RESULTS: Meal timing had no significant effects on fecal SCFA output, energy loss in feces, microbial community profiling, and bacterial species relative abundance. The absolute concentration of Escherichia coli was significantly higher after the large lunch intervention (p = 0.02). No effects on blood biomarkers of cardiometabolic health were observed. CONCLUSIONS: In a well-controlled study, main meal timing displayed minimal acute effects on the gut microbiome composition, its diet-related function, and blood biomarkers of cardiometabolic health.


Assuntos
Ritmo Circadiano/fisiologia , Microbioma Gastrointestinal/fisiologia , Refeições/fisiologia , Período Pós-Prandial/fisiologia , Fatores de Tempo , Adulto , Biomarcadores/sangue , Glicemia/metabolismo , Peso Corporal , Calorimetria , Fatores de Risco Cardiometabólico , Estudos Cross-Over , Jejum/sangue , Fezes/microbiologia , Feminino , Voluntários Saudáveis , Humanos , Insulina/sangue , Lipídeos/sangue , Masculino , RNA Ribossômico 16S , Adulto Jovem
17.
J AAPOS ; 24(2): 82.e1-82.e7, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32151571

RESUMO

PURPOSE: To describe the nystagmus characteristics of subjects with molecularly confirmed CNGB3-associated achromatopsia and report the spectral domain optical coherence tomography (SD-OCT) findings in these individuals. METHODS: Adults and children with CNGB3-achromatopsia underwent visual acuity testing, ocular motility assessments, video nystagmography, and SD-OCT imaging. Qualitative assessment of foveal structure was performed by grading SD-OCT images into one of five categories. RESULTS: A total of 18 subjects (11 adults) were included. The majority demonstrated a phoria, with manifest strabismus present in only 3 subjects. The predominant nystagmus waveform within the cohort was pure pendular. Nine individuals demonstrated a mixture of waveforms. Nystagmus frequencies were 4-8 cycles/second, with no notable differences in eye movements between adults and children. SD-OCT imaging revealed a continuous ellipsoid zone (EZ) at the fovea in 2 subjects (grade 1) and EZ disruption (grade 2) in the remaining 16. Retinal structure characteristics were symmetrical in both eyes in each subject. CONCLUSIONS: In our study cohort, nystagmus in CNGB3-associated achromatopsia had distinctive features, and the majority of subjects had retinal abnormalities at the fovea on SD-OCT. Early use of SD-OCT in the clinical work-up may eliminate the need for more invasive investigations, such as neuro-imaging.


Assuntos
Canais de Cátion Regulados por Nucleotídeos Cíclicos/genética , Nistagmo Patológico , Defeitos da Visão Cromática , Fóvea Central , Humanos , Nistagmo Patológico/diagnóstico por imagem , Tomografia de Coerência Óptica
18.
Jt Comm J Qual Patient Saf ; 46(4): 217-226, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32059829

RESUMO

Comprehensive care plans are dynamic documents maintained by an interdisciplinary team that contain specific, actionable information for clinicians and staff across multiple care settings. They promote communication and continuity of care by suggesting communication strategies, medical plans, and psychosocial resources. This article describes the structure and development process of comprehensive care plans for frequently hospitalized patients enrolled in a program designed to improve care for this vulnerable population. These care plans are widely used, with inpatient physicians referring to the care plan in their notes during 92.0% of admissions.


Assuntos
Comunicação Interdisciplinar , Médicos , Comunicação , Humanos , Equipe de Assistência ao Paciente , Assistência Centrada no Paciente , Pacientes
19.
Invest Ophthalmol Vis Sci ; 60(13): 4388-4396, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31634396

RESUMO

Purpose: To explore the impact of childhood lensectomy on posterior segment development. Methods: Cross-sectional observational study at children's eye clinics at a tertiary referral center in London, UK. We included 45 children age 4 to 16 years with healthy eyes and 38 who had undergone lensectomy. We acquired posterior segment optical coherence tomography scans of both eyes. We used parametric and nonparametric tests in SPSS24 for the comparison of parameters between groups and within individuals; a P value less than 0.05 was considered significant. The main outcome measures were foveal pit depth and subfoveal choroidal thickness (CT). Secondary outcomes were inner and outer ring CT and photoreceptor layer parameters, macular and peripapillary retinal nerve fiber layer thickness. Results: Foveal pit depth and subfoveal CT are significantly reduced in eyes that have undergone lensectomy compared with nonoperated eyes. Inner ring CT and outer ring CT are reduced. Foveal inner retinal layer thickness is increased. Mean inner retinal and outer nuclear layer thickness are not affected. Conclusions: Childhood lensectomy is associated with a reduction in developmental foveal pit deepening and lack of developmental thickening of the posterior choroid. Mechanical and optical disruption of foveal and subfoveal choroidal development may affect structural foveal development after childhood lensectomy.


Assuntos
Extração de Catarata , Catarata/congênito , Corioide/crescimento & desenvolvimento , Fóvea Central/crescimento & desenvolvimento , Segmento Posterior do Olho/crescimento & desenvolvimento , Adolescente , Criança , Pré-Escolar , Corioide/diagnóstico por imagem , Corioide/patologia , Estudos Transversais , Feminino , Fóvea Central/diagnóstico por imagem , Fóvea Central/patologia , Humanos , Masculino , Fibras Nervosas/patologia , Células Fotorreceptoras de Vertebrados/patologia , Segmento Posterior do Olho/diagnóstico por imagem , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual/fisiologia
20.
Front Plant Sci ; 10: 1040, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31555310

RESUMO

The hydroponic cultivation of spiny chicory (Cichorium spinosum L.), also known as stamnagathi, allows the development of year-round production. In the current study, two contrasting stamnagathi ecotypes originating from a montane and a coastal-marine habitat were supplied with nutrient solution containing 4 or 16 mM total-N in combination with 0.3, 20, or 40 mM NaCl. The primary aim of the experiment was to provide insight into salinity tolerance and nutrient needs in the two ecotypes, thereby contributing to breeding of more resilient cultivars to salinity and nutrient stress. Nutritional qualities of the stamnagathi genotypes were also tested. The coastal-marine ecotype was more salt tolerant in terms of fresh shoot biomass production and contained significantly more water and macro- and micro-nutrients in the shoot per dry weight unit. The root Na+ concentration was markedly lower in the coastal-marine compared to the montane ecotype. The leaf Na+ concentration was similar in both ecotypes at external NaCl concentrations up to 20 mM, but significantly higher in the montane compared to the coastal-marine ecotype at 40 mM NaCl. However, the leaf Cl- concentration was consistently higher in the coastal-marine than in the montane ecotype within each salinity level. The marine ecotype also exhibited significantly less total phenols, carotenoids, flavonoids, and chlorophyll compared to the montane ecotype across all treatments. Integrating all findings, it appears that at moderate salinity levels (20 mM), the higher salt tolerance of the coastal-marine ecotype is associated with mechanisms mitigating Na+ and Cl- toxicity within the leaf tissues, such as salt dilution imposed through increased leaf succulence. Nevertheless, at high external NaCl levels, Na+ exclusion may also contribute to enhanced salt tolerance of stamnagathi. Both ecotypes exhibited a high N-use efficiency, as their shoot biomass was not restricted when the total-N supply varied from 16 to 4 mM. The leaf organic-N was not influenced by salinity, while the interaction ecotype × N-supply-level was insignificant, indicating that the mechanisms involved in the salt tolerance difference between the two ecotypes was not linked with N-acquisition or -assimilation within the plant. The current results indicate that both ecotypes are promising germplasm resources for future breeding programs.

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