RESUMO
BACKGROUND: Hyperlinear palms are described as a feature of loss-of-function (LoF) variants in filaggrin (FLG). OBJECTIVES: To explore the phenotype of participants (age < 31â years) with atopic eczema of Bangladeshi ancestry from East London and investigate which factors best associate with LoF FLG variants. METHODS: A cross-sectional study with participants recruited between May 2018 and December 2020. Patterns of palmar linearity were categorized and modelled with the Eczema Area and Severity Index (EASI), transepidermal water loss (TEWL), skin hydration (SH) and LoF FLG variants. RESULTS: There were 506 complete cases available. Five palm patterns were noted. The 'prominent diamond' pattern associated best with EASI [marginal effects (ME) 2.53, 95% confidence interval (CI) 1.74-3.67], SH (ME 0.85, 95% CI 0.78-0.96) and TEWL (ME 1.32, 95% CI 1.11-1.62). Using five palm patterns had some ability to discriminate LoF FLG variants [area under the receiver operator characteristic (AUROC) 76.32%, 95% CI 71.91-80.73], improving to 77.99% (73.70-82.28) with the addition of SH. In subgroup analysis with only fine perpendicular/prominent diamond patterns the AUROC was 89.11% (95% CI 84.02-94.19). CONCLUSIONS: This was a single-centre study design with humans classifying clinical patterns. The stability of temperature and humidity was not guaranteed across TEWL and SH measurements despite using a climate-controlled room. Palm patterns associate with EASI and TEWL. The fine perpendicular/prominent diamond patterns are markers to detect the absence/presence of LoF FLG variants, respectively.
Assuntos
Dermatite Atópica , Eczema , Humanos , Adulto , Dermatite Atópica/genética , Proteínas Filagrinas , Estudos Transversais , Eczema/genética , Gravidade do Paciente , Proteínas de Filamentos Intermediários/genética , Proteínas de Filamentos Intermediários/metabolismo , Mutação/genética , Predisposição Genética para Doença/genéticaRESUMO
In order to deliver equal healthcare access to resource-poor settings, sustainable, cost-effective systems of communication should be used. As mobile phone use increases, remote care can be delivered via teledermatology using Apps. This commentary covers how WhatsApp could be used by dermatologists seeking to deliver healthcare in this context.
Assuntos
Dermatologia/métodos , Países em Desenvolvimento , Aplicativos Móveis , Telemedicina/métodos , Confidencialidade , Dermatologia/economia , Humanos , Aplicativos Móveis/economia , Smartphone , Telemedicina/economiaRESUMO
OBJECTIVES: To determine and compare the rates of progress made by pre-school aged children with all degrees and types of hearing impairment and deafness, both with and without additional needs as catalogued using SNOMED CT, at the end of a non-statutory programme of individualised Auditory Verbal (AV) intervention. METHODS: An audit was conducted using a retrospective and comparative study design to examine spoken language outcomes in children who had spent more than two years on an AV programme and had completed their programmes between January 2007 and December 2017. The children were stratified according to i) whether they achieved age appropriate language (AAL) (n =102) or not (n =27); ii) whether they had deafness alone (n = 77) or deafness with additional needs (n =52); and iii) whether children with additional needs achieved AAL (n= 27) or not (n =25). Children undertook standardised spoken language assessments on joining the AV programme and then at intervals of at least 6 months for the duration of their programme. Derived measures of rates of language development (RLD) were used to compare the groups at i) the outset (initial RLD), and ii) the conclusion of the AV programme (programme RLD). RESULTS: Overall, 79% of children within this cohort achieved age appropriate spoken language scores. Children with additional needs (40%) embarked on a non-statutory AV programme at a significantly older age (corrected for prematurity), with significantly lower initial RLD and, as a group, attained significantly lower programme RLD compared with children with deafness alone. One in two of the children with additional needs reached AAL by the end of their individualised programme. The children with additional needs also demonstrated a highly significant increase in their mean programme RLD compared with the mean initial RLD indicating an acceleration in acquiring spoken language competencies while on the AV programme. CONCLUSIONS: For deaf children with additional needs who stay on an AV programme for more than two years, listening and spoken communication is significantly enhanced. Specific access to the AV approach in addition to generic, statutory early intervention could facilitate deaf children with additional needs to achieve or approach AAL. Ensuring families have access to effective early intervention increases the chances that i) a suitable communication approach is adopted at the earliest opportunity, and ii) a child with additional needs acquires listening and spoken language at a rate commensurate with their full potential. Applying the SNOMED CT framework as a means of categorising children's additional needs will enable more effective comparisons across studies from different centres around the world.
Assuntos
Intervenção Educacional Precoce/métodos , Perda Auditiva Bilateral/terapia , Desenvolvimento da Linguagem , Criança , Pré-Escolar , Auditoria Clínica , Comunicação , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , FalaRESUMO
Otitis media with effusion (OME), a form of middle ear disease, is the most common reason for young children both to visit their family doctor and to have surgery. Almost all children have at least a single episode of OME before their first birthday and annual incidence rates exceed 50% in each of the first five years. For most children, OME occurs infrequently, but about 10-15% of children have OME during more than half of their first six years. Middle ear effusions attenuate and delay sound, causing conductive sound distortion during the crucial years for language acquisition. The many studies of OME effects on language and other indices of development have produced mixed results. However, a consensus is emerging of mild language impairment in the preschool years, with subsequent performance, emotional, and behavioral difficulties. In addition to the peripheral hearing loss produced directly by the disease, binaural and other central auditory deficits can outlive the OME. It has been unclear which children are at risk of central impairment following OME, since the children studied have generally been recruited from otolaryngology clinics. Consequently, a detailed prospective history of the middle ear status of participants has not been available. By studying six-year-old children with a lifetime known history of OME, we show in this study that only those children with a cumulative OME experience of more than about half the time during the first five years consistently have residual impaired binaural hearing.
Assuntos
Perda Auditiva/etiologia , Otite Média com Derrame/complicações , Audiometria/métodos , Criança , Limiar Diferencial , Perda Auditiva/diagnóstico , Humanos , Ruído , Mascaramento Perceptivo , Jogos de VídeoRESUMO
Conductive hearing loss attenuates and delays sound passing through the middle ear. This impairs binaural hearing and other central auditory functions dependent on high fidelity sound transmission. Persistent conductive loss leads to central impairments that persist after the peripheral loss has resolved. For example, children who have had multiple episodes of otitis media with effusion (OME) in the first few years of life may have poor detection of sounds in noisy environments, evidenced by reduced binaural unmasking (BU). Recent research shows that a 'threshold' level of OME is required to produce impaired BU. Children who had OME in one or both ears for more than about 50% of the first 5 years had reduced BU. Animal research, using long-term ear plugging, suggests that total OME duration, rather than age at the time of having the disease, determines its effect on BU. Animals reared with bilateral (but not unilateral) ear plugs also have poor auditory temporal resolution, and reduced sensitivity to short tones in the presence of background noise, after plug removal. However, given time (6-24 months) and training, all animals regained normal temporal resolution.
Assuntos
Doenças Auditivas Centrais/etiologia , Otite Média com Derrame/complicações , Doenças Auditivas Centrais/diagnóstico , Criança , Pré-Escolar , Perda Auditiva Bilateral/diagnóstico , Perda Auditiva Bilateral/etiologia , Perda Auditiva Condutiva/diagnóstico , Perda Auditiva Condutiva/etiologia , Humanos , Mascaramento Perceptivo/fisiologia , Índice de Gravidade de Doença , Localização de SomRESUMO
Although great reductions in human schistosomiasis have been observed after praziquantel (PZQ) mass drug administration (MDA), some individuals remain infected after multiple treatments. Many MDA programs now require monitoring for drug efficacy as a key component. No molecular tools for PZQ resistance currently exist and investigations into the dose of PZQ required to kill 50% of adult worms in vivo (ED(50)) present ethical, logistical, and temporal restraints. We, therefore, assessed the feasibility and accuracy of a rapid, inexpensive in vitro PZQ test in the laboratory and directly in the field in Uganda under MDA in conjunction with highly detailed infection intensity, clearance, and reinfection data. This test strongly differentiated between subsequently cleared and uncleared infections as well as differences between parasite populations pre- and post-PZQ treatments, advocating its use for on-the-spot monitoring of PZQ efficacy in natural foci. After only a few treatments, uncleared parasites were identified to be phenotypically different from drug-sensitive parasites, emphasizing the urgent need for monitoring of these repeatedly PZQ-treated populations.