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1.
Biochem J ; 477(1): 45-60, 2020 01 17.
Artículo en Inglés | MEDLINE | ID: mdl-31820794

RESUMEN

Membrane-active peptides have been extensively studied to probe protein-membrane interactions, to act as antimicrobial agents and cell-penetrating peptides (CPPs) for the delivery of therapeutic agents to cells. Hundreds of membrane-active sequences acting as CPPs have now been described including bioportides that serve as single entity modifiers of cell physiology at the intracellular level. Translation of promising CPPs in pre-clinical studies have, however, been disappointing as only few identified delivery systems have progressed to clinical trials. To search for novel membrane-active peptides a sequence from the EGFR juxtamembrane region was identified (named EJP18), synthesised, and examined in its L- and D-form for its ability to mediate the delivery of a small fluorophore and whole proteins to cancer cell lines. Initial studies identified the peptide as being highly membrane-active causing extensive and rapid plasma membrane reorganisation, blebbing, and toxicity. At lower, non-toxic concentrations the peptides outperformed the well-characterised CPP octaarginine in cellular delivery capacity for a fluorophore or proteins that were associated with the peptide covalently or via ionic interactions. EJP18 thus represents a novel membrane-active peptide that may be used as a naturally derived model for biophysical protein-membrane interactions or for delivery of cargo into cells for therapeutic or diagnostic applications.


Asunto(s)
Péptidos de Penetración Celular/farmacología , Portadores de Fármacos/farmacología , Sistemas de Liberación de Medicamentos/métodos , Neoplasias/tratamiento farmacológico , Receptores ErbB/farmacología , Proteínas Fluorescentes Verdes/administración & dosificación , Células HeLa , Humanos , Células MCF-7 , Dominios Proteicos
2.
J Public Health (Oxf) ; 42(3): e259-e267, 2020 08 18.
Artículo en Inglés | MEDLINE | ID: mdl-32812046

RESUMEN

BACKGROUND: The United Kingdom (UK) has seen a decrease in the number of young people drinking alcohol. However, the UK prevalence of underage drinking still ranks amongst the highest in Western Europe. Whilst there is a wealth of evidence reporting on the effectiveness of both primary, and secondary interventions, there are few reports of the experiences of young people who receive them. METHODS: The present study reports findings from interviews with 33 young people who were involved in an alcohol screening and brief intervention randomized controlled trial in schools in England. All interviews were analysed using inductive applied thematic analysis. RESULTS: Three major themes were identified following the analysis process: 1) drinking identities and awareness of risk; 2) access to support and advice in relation to alcohol use; and 3) appraisal of the intervention and potential impact on alcohol use. CONCLUSIONS: There appeared to be a reluctance from participants to describe themselves as someone who drinks alcohol. Furthermore, those who did drink alcohol often did so with parental permission. There was variation amongst participants as to how comfortable they felt talking about alcohol issues with school staff. Overall participants felt the intervention was useful, but would be better suited to 'heavier' drinkers.


Asunto(s)
Consumo de Bebidas Alcohólicas , Intervención en la Crisis (Psiquiatría) , Adolescente , Consumo de Bebidas Alcohólicas/epidemiología , Inglaterra , Europa (Continente) , Humanos , Instituciones Académicas , Reino Unido
3.
J Public Health (Oxf) ; 41(4): 821-829, 2019 12 20.
Artículo en Inglés | MEDLINE | ID: mdl-30371806

RESUMEN

BACKGROUND: Whilst underage drinking in the UK has been declining in recent years, prevalence is still higher than in most other Western European countries. Therefore, it is important to deliver effective interventions to reduce risk of harm. METHODS: Semi-structured interviews with staff delivering an alcohol screening and brief intervention in the high-school setting. The analysis was informed by normalization process theory (NPT), interviews were open coded and then a framework applied based on the four components of NPT. RESULTS: Five major themes emerged from the analysis. The majority of participants felt that the intervention could be useful, and that learning mentors were ideally suited to deliver it. However, there was a feeling that the intervention should have been targeted at young people who drink the most. CONCLUSIONS: The intervention was generally well received in schools and seen as an effective tool for engaging young people in a discussion around alcohol. However, in the future schools need to consider the level of staffing in place to deliver the intervention. Furthermore, the intervention could focus more on the long-term risks of initiating alcohol consumption at a young age.


Asunto(s)
Servicios de Salud Escolar , Consumo de Alcohol en Menores/prevención & control , Adolescente , Femenino , Humanos , Entrevistas como Asunto , Masculino , Evaluación de Programas y Proyectos de Salud , Maestros , Instituciones Académicas , Reino Unido
4.
Eur J Cancer Care (Engl) ; 27(2): e12783, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28983995

RESUMEN

Mindfulness has been described as a non-elaborative, non-judgmental, present-centred awareness in which each thought, feeling or sensation is acknowledged and accepted. The aim of the present study was to systematically search and synthesise qualitative evidence of cancer patients' attitudes to mindfulness. A systematic review of qualitative evidence was conducted following the SPICE framework. All cancers were included. Medline, Cinahl, Science Direct, O-Alster and New Bank were searched from the first available year to August 2016 using the search terms; wellbeing, mindfulness, qualitative. Two reviewers independently screened titles and abstracts; potentially relevant articles were retrieved and assessed independently by two reviewers. Data were extracted and quality assessed using Critical Appraisal Skills Programme (CASP) qualitative research checklist. In total, 233 studies conducted between 2005 and 2015 were identified with six included in the final analysis. Four themes were identified: Coping strategies developed through mindfulness course; Positive outcomes of mindful practice; Challenges with engaging in mindful practice; and Group identification and shared experience. The current evidence supports the view that mindfulness is an effective intervention to help people adjust to living with and beyond cancer however, more qualitative work is needed in this area.


Asunto(s)
Actitud , Atención Plena , Neoplasias/psicología , Psicoterapia/métodos , Adaptación Psicológica , Humanos , Investigación Cualitativa
5.
Br J Dermatol ; 177(3): 837-844, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28346655

RESUMEN

BACKGROUND: There is a known association between psoriasis and heavy alcohol consumption. The association between heavy alcohol consumption and other inflammatory skin diseases remains to be defined. OBJECTIVES: To examine the prevalence of heavy drinking using the Alcohol Use Disorders Identification Test (AUDIT) in patients with inflammatory skin disease. METHODS: We conducted an observational cross-sectional study in a single hospital outpatient department. We recruited 609 patients with either psoriasis, eczema, cutaneous lupus or other inflammatory disorders, and a reference population with skin lesions. Primary outcome was the proportion of patients in each group with an alcohol use disorder (AUD). RESULTS: The observed prevalence of AUD was 30·6% in patients with psoriasis, 33·3% in those with eczema, 12·3% in those with cutaneous lupus, 21·8% in those with other inflammatory disease and 14·3% in those with non-inflammatory disease. Odds ratios (OR) for AUD in patients in the inflammatory groups compared with those in the noninflammatory groups, adjusted for age and sex, were as follows: psoriasis 1·65 [95% confidence interval (CI) 0·86-3·17], eczema 2·00 (95% CI 1·03-3·85), lupus 1·03 (95% CI 0·39-2·71), other inflammatory disease 1·32 (95% CI 0·68-2·56). ORs were reduced if also adjusted for Dermatology Life Quality Index (DLQI). The prevalence of DLQI ≥ 11 was 31·1% for psoriasis, 43·7% for eczema, 17·5% for cutaneous lupus, 17·2% for other inflammatory disease and 2·8% for noninflammatory disease. CONCLUSIONS: Patients with eczema attending a hospital clinic have been shown to have high levels of AUD of a similar level to patients with psoriasis and higher than patients with noninflammatory skin diseases.


Asunto(s)
Alcoholismo/complicaciones , Enfermedades de la Piel/psicología , Adulto , Anciano , Consumo de Bebidas Alcohólicas/efectos adversos , Ansiedad/etiología , Estudios de Casos y Controles , Estudios Transversales , Eccema/psicología , Femenino , Humanos , Lupus Eritematoso Cutáneo/psicología , Masculino , Persona de Mediana Edad , Psoriasis/psicología , Calidad de Vida/psicología , Adulto Joven
6.
J Public Health (Oxf) ; 39(4): e251-e256, 2017 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-27881576

RESUMEN

Background: Sheds have been used in Australia for decades as an intervention to try and promote 'health by stealth' among men by providing a social space for those who may be particularly vulnerable to poor mental health. Little is known about the impact of men's sheds in England. Methods: Members of 19 sheds from one local authority area were invited to participate in focus groups to explore their perceptions of their shed. In total, 32 men participated in five focus groups which were analysed using applied thematic analysis. Results: While some sheds run activities, the main driving factor of sheds was the social aspect, with many coming along for nothing more than a chat and a cup of tea, allowing men to recapture lost social networks from their working days. However, it was felt that there could be more formal links forged between individual groups, which may result in a better range of activities on offer. Conclusions: This study indicates that the shed can be an effective way of reducing social isolation in older men. However, further work is needed to understand what impact the shed has on physical and mental well-being.


Asunto(s)
Servicios de Salud Comunitaria/métodos , Salud del Hombre , Adolescente , Adulto , Anciano , Inglaterra , Grupos Focales , Promoción de la Salud/métodos , Humanos , Masculino , Persona de Mediana Edad , Aislamiento Social/psicología , Apoyo Social , Adulto Joven
7.
BMC Public Health ; 17(1): 884, 2017 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-29149878

RESUMEN

BACKGROUND: Risky drinking is associated with risky sexual experiences, however the relationship between alcohol and sex is complex. The aim of the study was to assess the feasibility of delivering alcohol screening and brief interventions in genitourinary medicine (GUM) clinics. The objectives were to; understand the levels of alcohol use amongst patients; report on the number of alcohol interventions delivered; and to analyse the relationship between alcohol use with demographic data as well as diagnosed sexually transmitted infections (STIs) to see if there were any associations. METHODS: All new patients attending GUM between April 2012 and March 2013 self-completed the Alcohol Use Disorder Identification Test (AUDIT) prior to their clinical consultation. Where appropriate (scoring 8+ on AUDIT) the clinician would deliver up to 2-3 min of alcohol brief intervention. Descriptive statistics, t-tests, ANOVA and logistic regression were carried out as appropriate. RESULTS: AUDIT scores were available for 90% of all new patients (3058/3390) with an average mean score of 7.75. Of those who drank alcohol, 44% were categorised as being AUDIT positive, including 2% who had a score indicative of probable alcohol dependence (20+). 55 % (n = 638) of patients who screened positive on the AUDIT received a brief intervention whilst 24% (n = 674) of drinkers were diagnosed with a STI. Logistic regression modelling revealed that males, younger age groups and those of 'white' ethnicity were more likely to score positive on AUDIT. Patients classified as non-students, living in deprivation quintiles one to four and categorised as probable alcohol dependence on the AUDIT were more likely to be diagnosed with an STI. CONCLUSION: It is possible to embed alcohol screening into routine practice within sexual health services however further work is required to embed brief interventions particularly amongst increasing risk drinkers. If resources are limited, services may consider more targeted rather than universal alcohol screening to specific population groups. The study was undertaken in one GUM service in the North East of England and therefore findings may not be generalizable. The study did not assess efficacy of alcohol brief intervention in this setting.


Asunto(s)
Consumo de Bebidas Alcohólicas/epidemiología , Consumo de Bebidas Alcohólicas/psicología , Tamizaje Masivo , Psicoterapia Breve , Adolescente , Adulto , Instituciones de Atención Ambulatoria , Inglaterra/epidemiología , Estudios de Factibilidad , Femenino , Humanos , Masculino , Asunción de Riesgos , Conducta Sexual/psicología , Enfermedades de Transmisión Sexual/diagnóstico , Enfermedades de Transmisión Sexual/epidemiología , Adulto Joven
8.
J R Army Med Corps ; 163(4): 242-250, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28320916

RESUMEN

BACKGROUND: Higher levels of alcohol consumption have been observed in the UK armed forces compared with the general population. For some, this may increase the risk of using alcohol as a coping strategy when adjusting to multiple life events occurring when moving back into civilian life. METHOD: A systematic review was conducted to determine the effectiveness of alcohol brief interventions for military personnel during transition. Electronic databases including Medline, Central, Healthcare Management Information Consortium (HMIC) and Embase, and grey literature, were searched. Two reviewers independently assessed potential studies for inclusion, extracted data and assessed quality of selected articles using an established instrument. RESULTS: Ten studies met criteria for inclusion. Studies were synthesised narratively. Interventions were heterogeneous, and bias within studies may have acted to increase or decrease their reported effectiveness. The findings suggest some evidence for effectiveness of self-administered web-based interventions, involving personalised feedback over a number of sessions, and system-level electronic clinical reminders. All studies were from the USA. Delivery of interventions by a clinician during motivational interviews was most effective for those with post-traumatic stress disorder symptoms. CONCLUSIONS: A UK trial of web-based interventions with personalised feedback is recommended.


Asunto(s)
Alcoholismo/prevención & control , Personal Militar/psicología , Medición de Riesgo , Adaptación Psicológica , Alcoholismo/diagnóstico , Consejo , Depresión/psicología , Humanos , Trastornos por Estrés Postraumático/psicología
9.
Phys Chem Chem Phys ; 18(33): 22874-8, 2016 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-27480626

RESUMEN

The search for new fluorescent molecules is vital to the advancement of molecular imaging and sensing for the benefit of medical and biological studies. One such class of new fluorescent molecule is fluorescent gold nanoclusters encapsulated in Human Serum Albumin (HSA-AuNC). In order to use this new fluorescent molecule as a sensor or fluorescent marker in biological imaging both in vitro and in vivo it is important to understand whether/how the proteins function is changed by the synthesis and presence of the gold nanoclusters inside the protein. Natural HSA acts as the main drug carrier in the blood stream, carrying a multitude of molecules in two major binding sites (Sudlow I and II). To test the effects of gold on the ability of HSA to act as a drug carrier we employed warfarin, an anticoagulant drug, as a fluorescent probe to detect changes between natural HSA and HSA-AuNCs. AuNCs are found to inhibit the take up of warfarin by HSA. Evidence for this is found from fluorescence spectral and lifetime measurements. Interestingly, the presence of warfarin bound to HSA also inhibits the formation of gold nanoclusters within protein. This research provides valuable insight into how protein function can change upon synthesis of AuNCs and how that will affect their use as a fluorescent probe.


Asunto(s)
Anticoagulantes/química , Sitios de Unión , Unión Proteica , Albúmina Sérica Humana/química , Warfarina/química , Colorantes Fluorescentes , Oro , Humanos , Nanoestructuras , Albúmina Sérica
10.
Phys Chem Chem Phys ; 17(34): 21935-41, 2015 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-26234926

RESUMEN

Fluorescent gold nanoclusters encapsulated by proteins have attracted considerable attention in recent years for their unique properties as new fluorescence probes for biological sensing and imaging. However, fundamental questions, such as the nucleation sites of gold nanoclusters within proteins and the fluorescence mechanism remain unsolved. Here we present a study of the location of gold nanoclusters within bovine serum albumin (BSA) combining both fully atomistic molecular dynamic (MD) simulations and fluorescence spectroscopic studies. The MD simulations show gold clusters growing close to a number of cysteine sites across all three domains of BSA, although just two major sites in domains IIB and IA were found to accommodate large clusters comprising more than 12 atoms. The dependence of the fluorescence on pH is found to be compatible with possible nucleation sites in domains IIB and IA. Furthermore, the energy transfer between tryptophan and gold nanoclusters reveals a separation of 29.7 Å, further indicating that gold nanoclusters were most likely located in the major nucleation site in domain IIB. The disclosure of the precise location of the gold nanoclusters and their surrounding amino acid residues should help better understanding of their fluorescence mechanism and aid their optimization as fluorescent nanoprobes.


Asunto(s)
Oro/química , Nanopartículas del Metal/química , Simulación de Dinámica Molecular , Animales , Sitios de Unión , Cápsulas , Bovinos , Transferencia Resonante de Energía de Fluorescencia , Humanos , Concentración de Iones de Hidrógeno , Estructura Terciaria de Proteína , Triptófano/química
11.
Med Princ Pract ; 24(3): 238-43, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25791420

RESUMEN

OBJECTIVE: The aim of this study was to evaluate the relationship between the degree of preoperative pain and trismus with the development of complications following the repair of isolated unilateral compound mandibular body fractures using a closed reduction technique. SUBJECTS AND METHODS: This was a 7-year prospective study carried out at the Dental and Maxillofacial Surgery Clinic of the University of Calabar Teaching Hospital, Calabar, Nigeria. Of a total of 97 patients, 83 (85.6%) subjects (66 males, 17 females, ratio 5:1) were preoperatively evaluated for trismus and pain in a blinded manner by a single examiner, and complications were recorded postoperatively. The data obtained were statistically analyzed with EPI Info 2008 software. RESULTS: Of the 83 patients treated, 13 (15.7%) developed complications. The fractures were most common in the age range of 21-40 years (n = 45, 54.2%). The age (p = 0.02) and gender (p = 0.01) distribution of the subjects was significant. The more severe the limitation of mouth opening (p = 0.03) and pain (p = 0.04) before treatment, the more complications developed, and these significantly affected treatment outcome. Impaired mastication and facial asymmetry (n = 17, 41.5%) were the most common complications. CONCLUSION: This study showed that posttrauma pain and trismus due to unilateral mandibular body fractures may be associated with the development of complications. An adequately powered prospective study treating patients at 5 or 7 days is required in order to make the case for later intervention.


Asunto(s)
Dolor Facial/etiología , Fracturas Abiertas/cirugía , Fracturas Mandibulares/complicaciones , Fracturas Mandibulares/cirugía , Trismo/etiología , Adulto , Anciano , Femenino , Fijación de Fractura , Humanos , Masculino , Persona de Mediana Edad , Nigeria , Dimensión del Dolor , Estudios Prospectivos , Método Simple Ciego , Índices de Gravedad del Trauma , Resultado del Tratamiento , Adulto Joven
12.
Analyst ; 139(15): 3735-43, 2014 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-24915043

RESUMEN

Oligonucleotides labelled with fluorescent dyes are widely used as probes for the identification of DNA sequences in detection methods using optical spectroscopies such as fluorescence and surface enhanced Raman scattering (SERS). Spermine is widely used in surface enhanced based assays as a charge reduction and aggregating agent as it interacts strongly with the phosphate backbone and has shown to enhance the signal of a labelled oligonucleotide. The fluorescence intensity of two commonly used labels, FAM and TAMRA, were compared when spermine was added under different experimental conditions. There was a marked difference upon conjugating the free dye to an oligonucleotide, when FAM was conjugated to an oligonucleotide there was around a six fold decrease in emission, compared to a six fold increase when TAMRA was conjugated to an oligonucleotide. Dye labelled single and double stranded DNA also behaved differently with double stranded DNA labelled with FAM being a much more efficient emitter in the mid pH range, however TAMRA becomes increasingly less efficient as the pH rises. Upon addition of the base spermine, signal enhancement from the FAM labelled oligonucleotide is observed. Increasing probe concentrations of TAMRA oligonucleotide above 0.5 µM led to signal reduction most likely through quenching, either by an interaction with guanine, or through self-quenching. By using different bases for comparison, spermine and triethylamine (TEA), different affects were observed in the measured fluorescence signals. When TEA was added to FAM, a reduction in the pH dependence of fluorescence was observed, which may be useful for mid pH range assays. With the drive to increase information content and decrease time and complexity of DNA assays it is likely that more assays will be carried out in complex media such as extracted DNA fragments and PCR product. This model study indicates that dye DNA and dye spermine interactions are dye specific and that extreme care with conditions is necessary particularly if it is intended to determine the concentrations of multiple analytes using probes labelled with different dyes.


Asunto(s)
ADN/química , Colorantes Fluorescentes/química , Espermina/química , Secuencia de Bases , Sondas de Oligonucleótidos/química , Oligonucleótidos/química , Espectrometría de Fluorescencia/métodos
13.
Nat Genet ; 25(1): 67-73, 2000 May.
Artículo en Inglés | MEDLINE | ID: mdl-10802659

RESUMEN

The homologous membrane proteins Rom-1 and peripherin-2 are localized to the disk rims of photoreceptor outer segments (OSs), where they associate as tetramers and larger oligomers. Disk rims are thought to be critical for disk morphogenesis, OS renewal and the maintenance of OS structure, but the molecules which regulate these processes are unknown. Although peripherin-2 is known to be required for OS formation (because Prph2-/- mice do not form OSs; ref. 6), and mutations in RDS (the human homologue of Prph2) cause retinal degeneration, the relationship of Rom-1 to these processes is uncertain. Here we show that Rom1-/- mice form OSs in which peripherin-2 homotetramers are localized to the disk rims, indicating that peripherin-2 alone is sufficient for both disk and OS morphogenesis. The disks produced in Rom1-/- mice were large, rod OSs were highly disorganized (a phenotype which largely normalized with age) and rod photoreceptors died slowly by apoptosis. Furthermore, the maximal photoresponse of Rom1-/- rod photoreceptors was lower than that of controls. We conclude that Rom-1 is required for the regulation of disk morphogenesis and the viability of mammalian rod photoreceptors, and that mutations in human ROM1 may cause recessive photoreceptor degeneration.


Asunto(s)
Proteínas del Ojo/fisiología , Glicoproteínas de Membrana , Proteínas de la Membrana/fisiología , Disco Óptico/crecimiento & desarrollo , Células Fotorreceptoras Retinianas Bastones/fisiología , Animales , Electrorretinografía , Proteínas del Ojo/genética , Proteínas del Ojo/metabolismo , Femenino , Humanos , Proteínas de Filamentos Intermediarios/metabolismo , Cinética , Masculino , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , Ratones , Ratones Endogámicos BALB C , Ratones Noqueados , Morfogénesis/genética , Proteínas del Tejido Nervioso/metabolismo , Disco Óptico/ultraestructura , Periferinas , Degeneración Retiniana/genética , Degeneración Retiniana/metabolismo , Células Fotorreceptoras Retinianas Bastones/ultraestructura , Segmento Externo de la Célula en Bastón/crecimiento & desarrollo , Segmento Externo de la Célula en Bastón/ultraestructura , Tetraspaninas
14.
Nat Genet ; 24(1): 79-83, 2000 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-10615133

RESUMEN

Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram (ERG). Mutations in GUCY2D (ref. 3), RPE65 (ref. 4) and CRX (ref. 5) are known to cause LCA, but one study identified disease-causing GUCY2D mutations in only 8 of 15 families whose LCA locus maps to 17p13.1 (ref. 3), suggesting another LCA locus might be located on 17p13.1. Confirming this prediction, the LCA in one Pakistani family mapped to 17p13.1, between D17S849 and D17S960-a region that excludes GUCY2D. The LCA in this family has been designated LCA4 (ref. 6). We describe here a new photoreceptor/pineal-expressed gene, AIPL1 (encoding aryl-hydrocarbon interacting protein-like 1), that maps within the LCA4 candidate region and whose protein contains three tetratricopeptide (TPR) motifs, consistent with nuclear transport or chaperone activity. A homozygous nonsense mutation at codon 278 is present in all affected members of the original LCA4 family. AIPL1 mutations may cause approximately 20% of recessive LCA, as disease-causing mutations were identified in 3 of 14 LCA families not tested previously for linkage.


Asunto(s)
Proteínas Portadoras/genética , Cromosomas Humanos Par 17 , Mutación , Atrofias Ópticas Hereditarias/genética , Proteínas Adaptadoras Transductoras de Señales , Secuencia de Aminoácidos , Secuencia de Bases , Proteínas Portadoras/química , ADN Complementario , Proteínas del Ojo , Femenino , Ligamiento Genético , Homocigoto , Humanos , Hibridación Fluorescente in Situ , Masculino , Datos de Secuencia Molecular , Linaje , Células Fotorreceptoras de Vertebrados/metabolismo , Glándula Pineal/metabolismo , Homología de Secuencia de Aminoácido
15.
Nat Genet ; 26(3): 319-23, 2000 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-11062471

RESUMEN

During development, visual photoreceptors, bipolar cells and other neurons establish connections within the retina enabling the eye to process visual images over approximately 7 log units of illumination. Within the retina, cells that respond to light increment and light decrement are separated into ON- and OFF-pathways. Hereditary diseases are known to disturb these retinal pathways, causing either progressive degeneration or stationary deficits. Congenital stationary night blindness (CSNB) is a group of stable retinal disorders that are characterized by abnormal night vision. Genetic subtypes of CSNB have been defined and different disease actions have been postulated. The molecular bases have been elucidated in several subtypes, providing a better understanding of the disease mechanisms and developmental retinal neurobiology. Here we have studied 22 families with 'complete' X-linked CSNB (CSNB1; MIM 310500; ref. 4) in which affected males have night blindness, some photopic vision loss and a defect of the ON-pathway. We have found 14 different mutations, including 1 founder mutation in 7 families from the United States, in a novel candidate gene, NYX. NYX, which encodes a glycosylphosphatidyl (GPI)-anchored protein called nyctalopin, is a new and unique member of the small leucine-rich proteoglycan (SLRP) family. The role of other SLRP proteins suggests that mutant nyctalopin disrupts developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB.


Asunto(s)
Proteínas del Ojo/genética , Genes , Interneuronas/patología , Ceguera Nocturna/genética , Proteoglicanos/genética , Cromosoma X/genética , Adulto , Secuencias de Aminoácidos , Secuencia de Aminoácidos , Análisis Mutacional de ADN , ADN Complementario/genética , Etiquetas de Secuencia Expresada , Proteínas del Ojo/química , Proteínas del Ojo/fisiología , Perfilación de la Expresión Génica , Glicosilfosfatidilinositoles/metabolismo , Humanos , Interneuronas/metabolismo , Riñón/metabolismo , Leucina/análisis , Masculino , Datos de Secuencia Molecular , Ceguera Nocturna/clasificación , Especificidad de Órganos , Linaje , Proteoglicanos/química , Proteoglicanos/deficiencia , Proteoglicanos/fisiología , Secuencias Repetitivas de Aminoácido , Retina/patología , Células Ganglionares de la Retina/metabolismo , Alineación de Secuencia , Homología de Secuencia de Aminoácido , Transmisión Sináptica/fisiología , Visión Ocular/fisiología
16.
Afr Health Sci ; 23(4): 382-390, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38974277

RESUMEN

Objectives: To determine the prevalence of maxillofacial fractures associated with persistent CSF leak, and to assess its bearing on clinical outcomes of consecutive patients managed at our centre. Methods: This was a retrospective cross-sectional study. The medical records of patients over 11-year period were analysed for age, gender, etiology of injuries, duration between injury and presentation to the hospital, types of facial fracture and their treatments, treatment done to control CSF leak, and complication(s). Descriptive and bivariate statistics were computed. Results: Overall, 1473 patients were evaluated, 66 (4.5%) presented with craniofacial injuries associated with persistent CSF leak after 5 days of non-surgical treatment. Males (92.5%, P= 0.0000) and those in the 21 to 30 years age group (59.1 %, P=0.01) were predominant. The most common (68.2%) type of fracture combination was Le Fort I, II and III, NOE, zygomatic complex and mandible. The commonest clinical presentation of CSF leak was rhinorrhea only, in 66.7% of patients (P= 0.001). Conclusions: This study shows that the prevalence of maxillofacial fractures associated with persistent CSF leak was low, which was 4.5% of patients that presented with persistent CSF leak and 84.9% of the cases resolved after treatment of the various maxillofacial fractures.


Asunto(s)
Pérdida de Líquido Cefalorraquídeo , Traumatismos Maxilofaciales , Humanos , Masculino , Estudios Retrospectivos , Femenino , Adulto , Traumatismos Maxilofaciales/epidemiología , Estudios Transversales , Pérdida de Líquido Cefalorraquídeo/epidemiología , Pérdida de Líquido Cefalorraquídeo/etiología , Persona de Mediana Edad , Adulto Joven , Adolescente , Prevalencia , Rinorrea de Líquido Cefalorraquídeo/epidemiología , Rinorrea de Líquido Cefalorraquídeo/etiología , Niño , Anciano , Fracturas Craneales/epidemiología , Preescolar
17.
Alcohol Alcohol ; 47(2): 191-7, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22262506

RESUMEN

AIMS: To measure the prevalence, pattern and associated financial cost of alcohol-related ambulance call outs in the North East of England using routinely collected data from the North East Ambulance Service (NEAS). METHODS: A retrospective cohort study over a 1-year time period (1 April 2009 to 31 March 2010) using NEAS patient record forms. RESULTS: In the North East, 10% of ambulance call outs were alcohol-related. Males were 2.5 times more likely than females to be attended by an ambulance on the street rather than at home. People aged 10-19 had the highest relative risk ratio (3.4) of an ambulance pick up being on the street compare with those aged over 60. These call outs and subsequent accident and emergency (A&E) attendances cost over £9 million in a 1-year period. When extrapolated to the whole country the cost could be as much as £152 million per year. CONCLUSION: In a 1-year period, we estimated that over 31,000 ambulance call outs were alcohol-related. A large discrepancy was found between manual and electronic recording of alcohol-related ambulance attendances to A&E. The workload and cost of alcohol-related call outs is high and mostly preventable. Ambulance visits may present a teachable moment for brief intervention to reduce alcohol-related risk and harm.


Asunto(s)
Trastornos Relacionados con Alcohol/economía , Trastornos Relacionados con Alcohol/epidemiología , Ambulancias/economía , Servicios Médicos de Urgencia/economía , Etanol/envenenamiento , Costos de la Atención en Salud/estadística & datos numéricos , Adolescente , Adulto , Anciano , Ambulancias/estadística & datos numéricos , Niño , Servicios Médicos de Urgencia/estadística & datos numéricos , Inglaterra/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Caracteres Sexuales , Factores de Tiempo
18.
Minerva Chir ; 67(2): 105-10, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22487913

RESUMEN

The practice of surgery is in a constant flux with evolving technology as new techniques are continually being developed. Obesity is a major health problem worldwide and is the second most common preventable cause of death in North America. Currently, bariatric surgery is the only modality that results in a sustained weight loss along with reversal of the comorbidities. The purpose of this manuscript is to review the current endoluminal options for the treatment of morbid obesity. Procedures such as intragastric balloons, endoluminal vertical gastroplasty, transoral gastroplasty and transluminal sleeve are discussed and their efficacy is analyzed.


Asunto(s)
Cirugía Bariátrica/métodos , Endoscopía Gastrointestinal , Humanos
19.
Niger J Med ; 21(3): 308-12, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23304926

RESUMEN

BACKGROUND: Fractures of the zygomatic complex occur worldwide and are a component part of injuries that can be sustained in the maxillofacial region. The objective was to analyze the clinical presentation and management ofzygomatic complex fractures. METHODS: This was a prospective study carried out over a period of five years at the University of Calabar Teaching Hospital, Nigeria. Data documented were patients' age, gender, time of presentation, cause and type of fracture, associated head and maxillofacial injuries, clinical features, types of plain radiographs, treatment methods, duration of follow-up and complications. RESULTS: Majority of the patients (n = 81, 63.3%) were in their third and fourth decades of life while the male to female ratio was 20.3:1. Road traffic accident (n = 111, 86.7%) was the most common cause of fracture. Fractures of the zygomatic complex alone (n = 105, 82.0%) were more common than isolated fractures of the arch (n = 13, 10.2%) and combined fractures of the zygomatic complex and arch (n = 10, 7.8%). CONCLUSION: While multi-disciplinary approach to treatment is important, majority of the fractures were treated by simple elevation and transosseous wire osteosynthesis. Delay in presentation, associated injuries and non-availability of mini-plating technique contributed to the development of complications.


Asunto(s)
Fijación Interna de Fracturas , Fracturas Conminutas/cirugía , Fracturas Cigomáticas/cirugía , Accidentes de Tránsito , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Fracturas Conminutas/diagnóstico , Fracturas Conminutas/etiología , Hospitales de Enseñanza , Humanos , Masculino , Persona de Mediana Edad , Nigeria , Estudios Prospectivos , Adulto Joven , Fracturas Cigomáticas/diagnóstico , Fracturas Cigomáticas/etiología
20.
J Oral Maxillofac Surg ; 69(4): 971-6, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20950914

RESUMEN

PURPOSE: Pain, swelling, and trismus are the most common complications associated with third molar surgery. Several methods of alleviation of these complications have been described. The effect of single and multiple suture techniques on these complications was compared in the present study. PATIENTS AND METHODS: All consecutive patients 18 years of age or older who had been referred for surgical extraction of their impacted teeth between January and December 2007 at the maxillofacial unit of the Aminu Kano Teaching Hospital were recruited and randomized into 2 groups. All selected participants underwent surgical extraction of their impacted teeth by the same surgeon under local anesthesia. The flaps in 1 group were closed by multiple sutures and those in the second group were closed by a single suture. Pain, swelling, and trismus were evaluated at postoperative days 1, 2, 3, 5, and 7. Descriptive and comparative statistical analyses were performed, and the results are presented. Significance was set at P < .05. RESULTS: A total of 50 subjects participated in the present study. Both groups were comparable in terms of the age distribution (multiple suture group, 26.0 ± 4.73 years; single suture group, 25.8 ± 4.28 years, P = .755), difficulty index (multiple suture group, 5.0 ± 1.68; single suture group, 4.9 ± 4.79; P = .935), duration of surgery (multiple suture group, 29. 7 ± 6.11 minutes; single suture group, 30.0 ± 6.04 minutes; P = .835), and baseline parameters such as facial width (multiple suture group, 10.0 ± 1.32 cm; single suture group, 9.8 ± 0.37 cm; P = .115), mouth opening (multiple suture group, 4.5 ± 1.32 cm, single suture group, 4.8 ± 0.26 cm; P = .165), and preoperative pain, which was 0 in both groups. Other comparable variables included impaction type (P = .210) and indication for surgery (P = .278). A statistically significant difference was found in the level of pain at postoperative days 1, 2, and 3 (P < .05). A similar significant difference was found in swelling and trismus (P < .05). At days 5 and 7, no significant differences were found between the 2 groups for all parameters of pain, swelling, and trismus (P > .05). CONCLUSION: Our study had a comparable distribution of age, gender, and operative variables, such as the pattern of impaction, preoperative difficulty index, and operative time between patients undergoing the 2 methods of closure. With that, our results have shown that the single suture closure technique was better than the multiple suture technique with regard to postoperative pain, swelling, and trismus.


Asunto(s)
Edema/etiología , Tercer Molar/cirugía , Dolor Postoperatorio/etiología , Complicaciones Posoperatorias , Técnicas de Sutura , Extracción Dental , Trismo/etiología , Adolescente , Adulto , Procedimientos Quirúrgicos Ambulatorios , Anestésicos Locales/administración & dosificación , Cefalometría , Método Doble Ciego , Femenino , Estudios de Seguimiento , Humanos , Lidocaína/administración & dosificación , Masculino , Bloqueo Nervioso , Estudios Prospectivos , Colgajos Quirúrgicos , Técnicas de Sutura/efectos adversos , Factores de Tiempo , Extracción Dental/efectos adversos , Adulto Joven
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