RESUMO
BACKGROUND: People with intellectual disability (ID) face considerable barriers to accessing psychiatric health care, thus there is a risk for health disparity. The aims of the present study were 1) to compare specialist psychiatric health care utilization among older people with ID to that with their age peers in the general population, taking into account demographic factors and co-morbidities associated with specialist psychiatric health care utilization and 2) to determine a model for prediction of specialist psychiatric health care utilization among older people with ID. MATERIAL AND METHODS: We identified a national cohort of people with ID (ID cohort), aged 55+ years and alive at the end of 2012 (n = 7936), and a referent cohort from the general population (gPop cohort) one-to-one matched by year of birth and sex. Data on utilization of inpatient and outpatient specialist psychiatric health care, as well as on co-morbidities identified in either psychiatric or somatic specialist health care, were collected from the National Patient Register for the time period 2002-2012. RESULTS: After adjusting for sex, age, specialist psychiatric health care utilization the previous year, and co-morbidities, people in the ID cohort still had an increased risk of visits to unplanned inpatient (relative risk [RR] 1.95), unplanned outpatient (RR 1.59), planned inpatient (RR 2.02), and planned outpatient (RR 1.93) specialist psychiatric health care compared with the general population. Within the ID cohort, increasing age was a predictor for less health care, whereas psychiatric health care the previous year predicted increased risk of health care utilization the current year. As expected, mental and behavioral disorders predicted increased risk for psychiatric health care. Furthermore, episodic and paroxysmal disorders increased the risk of planned psychiatric health care. CONCLUSIONS: Older people with ID have a high need for psychiatric specialist health care due to a complex pattern of diagnoses. Further research needs to investigate the conditions that can explain the lesser psychiatric care in higher age groups. There is also a need of research on health care utilization among people with ID in the primary health care context. This knowledge is critical for policymakers' plans of resources to meet the needs of these people.
Assuntos
Deficiência Intelectual/epidemiologia , Deficiência Intelectual/terapia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Sistema de Registros , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Specific medical guidelines for health surveillance exist for people with Down syndrome (DS) since 25 years but knowledge of adherence to the guidelines is lacking. The guidelines were developed to avoid unnecessary suffering from preventable conditions. The aims of the study were to investigate 1) planned health care visits in relation to the co-morbidities described in specific medical guidelines as a measure of adherence, 2) unplanned health care visits as a measure of potentially unmet health care needs and 3) gender differences in health care utilisation among older people with DS. METHODS: This register-based study includes people with DS (n = 472) from a Swedish national cohort of people with intellectual disability (n = 7936), aged 55 years or more, and with at least one support according to the disability law, in 2012. Data on inpatient and outpatient specialist health care utilisation were collected from the National Patient Register for 2002-2012. RESULTS: A total of 3854 inpatient and outpatient specialist health care visits were recorded during the 11 years, of which 54.6% (n = 2103) were planned, 44.0% (n = 1695) unplanned and 1.4% (n = 56) lacked information. More than half of the visits, 67.0% (n = 2582) were outpatient health care thus inpatient 33% (n = 1272). Most planned visits (29.4%, n = 618) were to an ophthalmology clinic, and most unplanned visits to an internal medicine clinic (36.6%, n = 621). The most common cause for planned visits was cataract, found at least once for 32.8% in this cohort, followed by arthrosis (8.9%), epilepsy (8.9%) and dementia (6.6%). Pneumonia, pain, fractures and epilepsy each accounted for at least one unplanned visit for approximately one-fourth of the population (27.1, 26.9, 26.3 and 19.7% respectively). Men and women had similar numbers of unplanned visits. However, women were more likely to have visits for epilepsy or fractures, and men more likely for pneumonia. CONCLUSIONS: Increased awareness of existing specific medical guidelines for people with DS is vital for preventive measures. The relatively few planned health care visits according to the medical guidelines together with a high number of unplanned visits caused by conditions which potentially can be prevented suggest a need of improved adherence to medical guidelines.
Assuntos
Síndrome de Down/terapia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Idoso , Estudos de Coortes , Síndrome de Down/epidemiologia , Feminino , Fidelidade a Diretrizes/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Sistema de Registros , Suécia/epidemiologiaRESUMO
BACKGROUND: Cancer occurrence among older people with intellectual disability (ID) is poorly documented, so we investigated the frequency and distribution of cancer in older people with ID compared with the general population. METHOD: People with ID who were ≥55years old and alive at the end of 2012 (n = 7936; ID cohort) were identified through a national register of people with ID who received social services in Sweden to optimise the individual's opportunity for good living conditions in daily life. An equally large reference cohort from the general population (gPop cohort) was matched by year of birth and sex. Cancer diagnoses registered in inpatient and outpatient specialist care were collected for 2002-2012 from the ID cohort and compared with diagnoses in the gPop cohort. RESULTS: A lower total cancer frequency was observed in the ID cohort, which contained 555 cancers, compared with 877 cancers in the gPop cohort [odds ratio (OR): 0.63; 95% confidence interval (CI): 0.57-0.70]. Women accounted for 60% of cancers in the ID cohort. Breast and gynaecological organ cancers had similar or slightly lower frequencies in the ID cohort than in the general population, with breast OR of 0.95, uterine corpus OR of 1.00 and ovary OR of 0.73. Surprisingly, cancer frequency of the digestive organs (OR: 0.67), including the colon (OR: 0.82), was lower than in the general population. Cancers of the prostate (OR: 0.25), urinary tract (OR: 0.42) and lung were less frequent than in the general population. CONCLUSIONS: Cancer was diagnosed less frequently in the ID cohort than in the gPop cohort. However, cancers of the breast and colon-rectum remain frequent in people with ID and therefore warrant prevention policies, monitoring and screening similar to those of the general population.
Assuntos
Deficiência Intelectual/epidemiologia , Neoplasias/epidemiologia , Sistema de Registros/estatística & dados numéricos , Idoso , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Suécia/epidemiologiaRESUMO
BACKGROUND: Falls are common among older people with intellectual disability (ID) and are also a major contributor to injuries in this population. Yet, fall characteristics have only been sparsely studied, and the results are inconsistent. The aim of the present study was to investigate type of falls, places where they occurred and activities that caused them, as well as health outcomes and health utilisation patterns after falls, among older people with ID in comparison with their age peers in the general population. METHODS: We established an administrative cohort of people with ID aged 55 years, or more, and alive at the end of 2012 (ID cohort; n = 7936). A cohort from the general population, one-to-one matched by sex and year of birth, was used as referents. Data regarding fall-induced health care episodes in inpatient and outpatient specialist care were collected from the National Patient Register for the period 2002-2012. RESULTS: With the exception of falls from one level to another (i.e. fall on and from stairs and steps, ladder and scaffolding; fall from, out of or through building or structure; fall from tree or cliff and diving or jumping into water; or other fall from one level to another), people in the ID cohort were more likely to fall and fall more often than those in the general population cohort. Falls during a vital activity (e.g. attending to personal hygiene or eating) were twice as common among people with ID compared with the general population. When falling, people with ID were more likely to injure their head and legs but less likely to sustain injuries to the thorax and elbow/forearm. They were more likely to have superficial injuries, open wounds and fractures but less likely to have dislocations, sprain and strains. Fall-related health care visits among people with ID were more likely to be in inpatient care and be unplanned. People with ID were also more likely than those in the general population to have a readmission within 30 days. CONCLUSIONS: People with ID are more likely to require specialist care after a fall and also more likely to obtain injuries to the head, compared with the general population. This is important to consider when taking preventive measures to reduce falls and fall-related injuries.
Assuntos
Acidentes por Quedas/estatística & dados numéricos , Envelhecimento , Deficiência Intelectual/epidemiologia , Sistema de Registros/estatística & dados numéricos , Idoso , Estudos de Coortes , Humanos , Pessoa de Meia-Idade , Suécia/epidemiologiaRESUMO
The X-linked RP3 gene codes for the ciliary protein RPGR and accounts for over 10% of inherited retinal degenerations. The critical RPGR-ORF15 splice variant contains a highly repetitive purine-rich linker region that renders it unstable and difficult to adapt for gene therapy. To test the hypothesis that the precise length of the linker region is not critical for function, we evaluated whether adeno-associated virus-mediated replacement gene therapy with a human ORF15 variant containing in-frame shortening of the linker region could reconstitute RPGR function in vivo. We delivered human RPGR-ORF15 replacement genes with deletion of most (314 codons, 'short form') or 1/3 (126 codons, 'long form') of the linker region to Rpgr null mice. Human RPGR-ORF15 expression was detected post treatment with both forms of ORF15 transgenes. However, only the long form correctly localized to the connecting cilia and led to significant functional and morphological rescue of rods and cones. Thus the highly repetitive region of RPGR is functionally important but that moderate shortening of its length, which confers the advantage of added stability, preserves its function. These findings provide a theoretical basis for optimizing replacement gene design in clinical trials for X-linked RP3.
Assuntos
Dependovirus/genética , Proteínas do Olho/genética , Terapia Genética , Retinose Pigmentar/terapia , Processamento Alternativo , Animais , Modelos Animais de Doenças , Receptor Quinase 1 Acoplada a Proteína G/genética , Humanos , Camundongos , Camundongos Endogâmicos C57BL , Regiões Promotoras Genéticas , Células Fotorreceptoras Retinianas Cones/fisiologia , Células Fotorreceptoras Retinianas Bastonetes/fisiologia , Retinose Pigmentar/genéticaRESUMO
BACKGROUND: The Scandinavian society of anaesthesiology and intensive care medicine task force on pre-hospital airway management was asked to formulate recommendations following standards for trustworthy clinical practice guidelines. METHODS: The literature was systematically reviewed and the grading of recommendations assessment, development and evaluation (GRADE) system was applied to move from evidence to recommendations. RESULTS: We recommend that all emergency medical service (EMS) providers consider to: apply basic airway manoeuvres and airway adjuncts (good practice recommendation); turn unconscious non-trauma patients into the recovery position when advanced airway management is unavailable (good practice recommendation); turn unconscious trauma patients to the lateral trauma position while maintaining spinal alignment when advanced airway management is unavailable [strong recommendation, low quality of evidence (QoE)]. We suggest that intermediately trained providers use a supraglottic airway device (SAD) or basic airway manoeuvres on patients in cardiac arrest (weak recommendation, low QoE). We recommend that advanced trained providers consider using an SAD in selected indications or as a rescue device after failed endotracheal intubation (ETI) (good practice recommendation). We recommend that ETI should only be performed by advanced trained providers (strong recommendation, low QoE). We suggest that videolaryngoscopy is considered for ETI when direct laryngoscopy fails or is expected to be difficult (weak recommendation, low QoE). We suggest that advanced trained providers apply cricothyroidotomy in 'cannot intubate, cannot ventilate' situations (weak recommendation, low QoE). CONCLUSION: This guideline for pre-hospital airway management includes a combination of techniques applied in a stepwise fashion appropriate to patient clinical status and provider training.
Assuntos
Manuseio das Vias Aéreas/métodos , Serviços Médicos de Emergência/métodos , Guias de Prática Clínica como Assunto , Humanos , Países Escandinavos e Nórdicos , Sociedades MédicasRESUMO
BACKGROUND: Anaesthesiologists from Oslo University Hospital have transported patients with severe oxygenation failure with inhaled nitric oxide (usually 20 ppm) from other hospitals to a tertiary care centre since 2002 in an effort to reduce the number of patients that otherwise would require transport with ongoing extracorporeal membrane oxygenation. The aim of this study was to evaluate the patient safety during transport with inhaled nitric oxide. METHODS: All patient transports with ongoing nitric oxide treatment undertaken from 2003 to 2012 were identified in the transport database. The frequency of adverse events and their impact on patient safety were studied in addition to response to inhaled nitric oxide and adjusted intensive care treatment and time aspects of the transports. Information about in-hospital treatment and survival were extracted from the hospital patient records. RESULTS: Adverse events were recorded in 12 of the 104 transports. Seven of the adverse events were due to malfunctioning technical equipment, three were related to medication other than the inhaled nitric oxide and two were related to ventilation. No adverse events resulted in permanent negative patient consequences or in discontinuation of the transport. Out of 104 patients, 79 responded to treatment with inhaled nitric oxide and other treatment changes by an increase in oxygen saturation of more than 5%. The 30-day mortality was 27% in the group transported with inhaled nitric oxide. CONCLUSION: Transporting patients on inhaled nitric oxide is an alternative in selected patients who would otherwise require extracorporeal membrane oxygenation during transport.
Assuntos
Broncodilatadores/uso terapêutico , Óxido Nítrico/uso terapêutico , Transporte de Pacientes , Administração por Inalação , Adolescente , Adulto , Idoso , Broncodilatadores/administração & dosagem , Broncodilatadores/efeitos adversos , Criança , Pré-Escolar , Cuidados Críticos , Falha de Equipamento/estatística & dados numéricos , Oxigenação por Membrana Extracorpórea , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Óxido Nítrico/administração & dosagem , Óxido Nítrico/efeitos adversos , Noruega , Insuficiência Respiratória/mortalidade , Insuficiência Respiratória/terapia , Estudos Retrospectivos , Análise de Sobrevida , Centros de Atenção Terciária , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: The expected increase in longevity of individuals with intellectual disabilities (ID) in many countries of the world is a direct result of medical and social advances, which have also extended the longevity of the general population. It is important to assess the need for social services for people with ID across different administrative levels to ensure sufficient resources are allocated to where they are most needed. This study estimates the annual prevalence of older people with ID from 2004 to 2012 and in different counties and municipalities in Sweden, by sex and age group; identifies proxy indicators related to the care of older people with ID in different counties in 2012 in Sweden and analyses the spatial distribution and clustering of municipalities with a high prevalence of older people with ID. METHODS: Individuals with ID were identified through the national register based on the Swedish Act concerning Support and Service for Persons with Certain Functional Impairments (the LSS act) and the national death register. This study focuses on older individuals aged 55+ during the period of 2004-2012. The estimated prevalence was calculated at the county and municipality level and plotted on a municipality-level map. Moran's I statistics was used to identify any spatial clustering of municipalities with a large number of individuals with ID. RESULTS: The prevalence of ID among older individuals aged 55+ in Sweden increased from 2004 to 2012. The prevalence was consistently higher among men, and the gender gap increased slightly in recent years. Age-specific prevalence estimates showed ID to be higher in younger age groups, and the gender gap decreased in older age groups. The prevalence was higher in northern counties in Sweden (over 500 individuals per 100 000 population aged 55+). Higher prevalence areas were clustered in northern municipalities, whereas municipalities with high prevalence of older individuals with ID in the middle and southern regions of Sweden demonstrated a more widespread distribution. CONCLUSIONS: The existence of clusters of counties with a high prevalence of older individuals with ID necessitates further assessment of how resources have been allocated to different counties and municipalities in Sweden. Investigations of the quality of social services provided to individuals with ID across different counties in Sweden are warranted. It is important to ensure that high quality supports are being provided to older individuals with ID in order to grant them the same right to healthy ageing as their counterparts living without ID throughout their life course.
Assuntos
Deficiência Intelectual/epidemiologia , Sistema de Registros/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Análise Espacial , Suécia/epidemiologiaRESUMO
The objectives of the two studies presented were to estimate the prevalence of Campylobacter-positive farms and flocks and to acquire updated knowledge about risk factors for the introduction of Campylobacter in Danish broiler flocks. In the first study, from September 2010 to September 2011, there were 25 Danish broiler farms visited, and a questionnaire was filled in by a veterinarian/consultant. In the second study, a similar questionnaire was distributed electronically to all Danish broiler farmers (n=164) that were on record with an email address in the Quality Assurance System in the Danish Broiler Production (KIK) database. House- and flock-specific data collected in the surveys were supplemented with information obtained from the KIK database. Data obtained from the two studies were analyzed separately by logistic regression analysis. In both models, the dependent variable was "Campylobacter flock status (positive/negative)," which was based on real-time PCR testing of fecal material from the floor of each broiler house that had been collected preslaughter using a pair of tube gauze "socks." This material was pooled into one sample. Of the 25 farms visited, 17 had delivered Campylobacter-positive flocks during the study period, and eight farms had no Campylobacter-positive flocks. Moreover, the flock prevalence of Campylobacter was 17% (n=418). Data obtained from the electronically distributed survey revealed that 63% (n=71) of the farms were Campylobacter-positive. Further, the flock prevalence of Campylobacter was 14% (n=1,286). The multivariable models from the two sets of data identified the following statistically significant risk factors: summer vs. winter; if the previous flock in the house was positive for Campylobacter vs. if the previous flock in the house was negative; and litter delivered into the house close to the time of arrival of new chickens vs. storing litter on the farm. Furthermore, the data showed that a vertically based ventilation system (where most of the air is taken into the house through chimneys) constituted a higher risk than a horizontally based system (where the air is taken in through openings in the side walls).
Assuntos
Infecções por Campylobacter/veterinária , Campylobacter/fisiologia , Galinhas , Doenças das Aves Domésticas/epidemiologia , Animais , Infecções por Campylobacter/epidemiologia , Infecções por Campylobacter/microbiologia , Dinamarca/epidemiologia , Fezes/microbiologia , Modelos Lineares , Modelos Logísticos , Doenças das Aves Domésticas/microbiologia , Prevalência , Reação em Cadeia da Polimerase em Tempo Real/veterinária , Fatores de Risco , Estações do AnoRESUMO
We have generated frequency combs spanning 0.5 to 20 GHz in superconducting λ/2 resonators at T=3 K. Thin films of niobium-titanium nitride enabled this development due to their low loss, high nonlinearity, low frequency dispersion, and high critical temperature. The combs nucleate as sidebands around multiples of the pump frequency. Selection rules for the allowed frequency emission are calculated using perturbation theory, and the measured spectrum is shown to agree with the theory. Sideband spacing is measured to be accurate to 1 part in 10(8). The sidebands coalesce into a continuous comb structure observed to cover at least several frequency octaves.
RESUMO
We present measurements of a topological property, the Chern number (C_{1}), of a closed manifold in the space of two-level system Hamiltonians, where the two-level system is formed from a superconducting qubit. We manipulate the parameters of the Hamiltonian of the superconducting qubit along paths in the manifold and extract C_{1} from the nonadiabatic response of the qubit. By adjusting the manifold such that a degeneracy in the Hamiltonian passes from inside to outside the manifold, we observe a topological transition C_{1}=1â0. Our measurement of C_{1} is quantized to within 2% on either side of the transition.
RESUMO
Overexpression of α2A-adrenoceptors contributes to type 2 diabetes in GK rats. We aimed to investigate if α2-adrenoceptor inhibition affected islet blood flow in these rats. Anesthetized GK and Wistar-F rats were given the α2-adrenoceptor inhibitor yohimbine (2.5 mg/kg BW) intravenously. The GK rats had higher blood glucose and serum insulin concentrations than WF rats. Yohimbine affected neither of these values in WF rats, but decreased blood glucose and increased serum insulin concentrations in GK rats. Total pancreatic and islet blood flows, measured with microspheres, were increased in GK when compared to WF rats. Yohimbine affected none of the blood flow values in WF rats, whereas islet blood flow in GK rats was reduced to values similar to those seen in WF rats. Overexpression of α2-adrenoceptors may contribute to the increased islet blood flow seen in GK rats, and may be eligible for pharmacologic intervention.
Assuntos
Antagonistas de Receptores Adrenérgicos alfa 2/farmacologia , Diabetes Mellitus Tipo 2/sangue , Ilhotas Pancreáticas/irrigação sanguínea , Ilhotas Pancreáticas/efeitos dos fármacos , Ioimbina/farmacologia , Anestesia , Animais , Modelos Animais de Doenças , Injeções Intravenosas , Masculino , Pâncreas/irrigação sanguínea , Pâncreas/efeitos dos fármacos , Ratos , Ratos Endogâmicos WF , Fluxo Sanguíneo Regional/efeitos dos fármacos , Ioimbina/administração & dosagemRESUMO
Despite a number of risk-factor studies in different countries, the epidemiology of Campylobacter colonization in broilers, particularly spatial dependencies, is still not well understood. A series of analyses (visualization and exploratory) were therefore conducted in order to obtain a better understanding of the spatial and temporal distribution of Campylobacter in the Danish broiler population. In this study, we observed a non-random temporal occurrence of Campylobacter, with high prevalence during summer and low during winter. Significant spatio-temporal clusters were identified in the same areas in the summer months from 2007 to 2009. Range of influence between broiler farms were estimated at distances of 9.6 km and 13.5 km in different years. Identification of areas and time with greater risk indicates variable presence of risk factors with space and time. Implementation of safety measures on farms within high-risk clusters during summer could have an impact in reducing prevalence.
Assuntos
Infecções por Campylobacter/veterinária , Campylobacter/isolamento & purificação , Galinhas , Doenças das Aves Domésticas/microbiologia , Animais , Campylobacter/classificação , Infecções por Campylobacter/epidemiologia , Análise por Conglomerados , Dinamarca/epidemiologia , Doenças das Aves Domésticas/epidemiologia , Prevalência , Fatores de Risco , Estações do Ano , Fatores de TempoRESUMO
We have found four mutations in the human gene encoding the beta-subunit of rod cGMP phosphodiesterase (PDE beta) that cosegregate with autosomal recessive retinitis pigmentosa, a degenerative disease of photoreceptors. In one family two affected siblings both carry allelic nonsense mutations at codons 298 and 531. Affected individuals have abnormal rod and cone electroretinograms. PDE beta is the second member of the phototransduction cascade besides rhodopsin that is absent or altered as a cause of retinitis pigmentosa, suggesting that other members of this pathway may be defective in other forms of this disease.
Assuntos
3',5'-GMP Cíclico Fosfodiesterases/genética , Proteínas do Olho/genética , Mutação , Diester Fosfórico Hidrolases , Células Fotorreceptoras/enzimologia , Retinose Pigmentar/genética , 3',5'-GMP Cíclico Fosfodiesterases/deficiência , Sequência de Aminoácidos , Animais , Sequência de Bases , Códon , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6 , Análise Mutacional de DNA , DNA de Cadeia Simples/genética , Modelos Animais de Doenças , Doenças do Cão/genética , Cães , Eletrorretinografia , Feminino , Genes Recessivos , Humanos , Masculino , Camundongos , Camundongos Mutantes/genética , Dados de Sequência Molecular , Conformação de Ácido Nucleico , Linhagem , Células Fotorreceptoras/fisiologia , Células Fotorreceptoras/efeitos da radiação , Polimorfismo Genético , Degeneração Retiniana/genética , Displasia Retiniana/genética , Displasia Retiniana/veterinária , Retinose Pigmentar/classificação , Rodopsina/genética , Transdução de SinaisRESUMO
The murine rds (retinal degeneration slow) allele is a semidominant null allele that causes photoreceptor degeneration. The wild-type sequence at the rds locus encodes a photoreceptor disc membrane protein named peripherin/RDS. Mutations in the homologous human peripherin/RDS gene can cause autosomal dominant retinitis pigmentosa, but these are missense mutations or deletions of single codons. No obvious null alleles have been reported in humans, so that the human phenotype corresponding to rds is as yet unknown. Here we report a 2-basepair deletion in codon 25 of the human gene in a family with autosomal dominant retinitis punctata albescens, suggesting that this disease, rather than retinitis pigmentosa, is the comparable human phenotype.
Assuntos
Proteínas do Olho/genética , Genes Dominantes , Proteínas de Filamentos Intermediários/genética , Glicoproteínas de Membrana , Mutação , Proteínas do Tecido Nervoso , Degeneração Retiniana/genética , Doenças Retinianas/genética , Alelos , Sequência de Aminoácidos , Animais , Sequência de Bases , Eletrorretinografia , Feminino , Angiofluoresceinografia , Humanos , Masculino , Camundongos , Pessoa de Meia-Idade , Dados de Sequência Molecular , Neuropeptídeos/genética , Oligodesoxirribonucleotídeos , Linhagem , Periferinas , Doenças Retinianas/diagnóstico , Doenças Retinianas/fisiopatologiaRESUMO
Mutations within the rhodopsin gene are known to give rise to autosomal dominant retinitis pigmentosa (RP), a common hereditary form of retinal degeneration. We now describe a patient with autosomal recessive RP who is homozygous for a nonsense mutation at codon 249 within exon 4 of the rhodopsin gene. This null mutation, the first gene defect identified in autosomal recessive retinitis pigmentosa, should result in a functionally inactive rhodopsin protein that is missing the sixth and seventh transmembrane domains including the 11-cis-retinal attachment site. We also found a different null mutation carried heterozygously by an unrelated unaffected individual. Heterozygous carriers of either mutation had normal ophthalmologic examinations but their electroretinograms revealed an abnormality in rod photoreceptor function.
Assuntos
Retinose Pigmentar/genética , Rodopsina/genética , Adaptação Ocular , Adulto , Sequência de Aminoácidos , Sequência de Bases , Consanguinidade , DNA/genética , Análise Mutacional de DNA , Escuridão , Eletrorretinografia , Feminino , Genes Recessivos , Heterozigoto , Homozigoto , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Células Fotorreceptoras/fisiopatologia , Mutação Puntual , Retinose Pigmentar/fisiopatologiaRESUMO
The Goto-Kakizaki (GK) rat, a type 2 diabetes model, has increased pancreatic islet and white adipose tissue (WAT) blood flow, and this can be normalized by acute administration of SR59230A, a ß3 -adrenoceptor antagonist. We now implanted osmotic pumps which allowed a constant release of saline or SR59230A (0.6 mg/kg × day) for 2 weeks. A decrease in islet blood flow was seen also after 2 weeks of continuous SR59230A treatment in the GK rat. However, no improvement in glucose tolerance was seen in the GK rats. Neither did SR59230A affect insulin secretion from isolated islets in vitro. WAT blood flow was not affected by the 2-week SR59230A treatment. Thus, the increased islet blood flow seen in the GK rat can be normalized for up to 2 weeks, which opens the possibilities for further studies on the long-term functional role on the islet blood flow increase in this type 2 diabetes model.
Assuntos
Antagonistas de Receptores Adrenérgicos beta 3/farmacologia , Glicemia/efeitos dos fármacos , Diabetes Mellitus Experimental/tratamento farmacológico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Ilhotas Pancreáticas/efeitos dos fármacos , Propanolaminas/farmacologia , Animais , Glicemia/metabolismo , Diabetes Mellitus Experimental/sangue , Diabetes Mellitus Experimental/fisiopatologia , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/fisiopatologia , Modelos Animais de Doenças , Teste de Tolerância a Glucose , Ilhotas Pancreáticas/irrigação sanguínea , Ilhotas Pancreáticas/metabolismo , Ratos , Ratos Endogâmicos , Fluxo Sanguíneo Regional/efeitos dos fármacosRESUMO
Data from the Quality Assurance System in Danish Broiler Production (KIK system) were analyzed to identify within farm biosecurity- and management-related risk factors for Campylobacter infection in Danish broiler flocks. In the study, data from 2,835 flocks originating from 187 farms in the time period of December 2009 to November 2010 were included. The PCR test results of fecal samples collected on socks revealed that 14% of the Danish broiler flocks were positive to Campylobacter during the study period. Of the positive flocks, 55% were positive during summer time and the positive flocks during summer time were related to areas where clustering of infected farms was identified in previous conducted studies. The median number of people working in or entering broiler houses was 2 (from 1 to 7). The median slaughter age of Danish broiler flocks was 35 d (from 31-61 d). A multivariable logistic regression model with a random effect of farm was performed. The analysis revealed that flocks had a higher risk of acquiring positive infection status during summer time: odds ratio = 12.59 (95% CI: 6.79-23.36) and when more than one person entered the broiler house: odds ratio = 2.03 (95% CI: 1.19-3.84). Furthermore, there was a higher risk of a positive infection status if the test result of the farm for the previous flock was positive: odds ratio = 1.80 (95% CI: 1.22-2.63), if the broiler houses were built before and during 1990: odds ratio = 1.60 (95% CI: 1.17-2.18), and if the average slaughter age of the birds was more than 35 d: odds ratio = 1.33 (95% CI: 1.02-1.76).
Assuntos
Infecções por Campylobacter/veterinária , Campylobacter/isolamento & purificação , Doenças das Aves Domésticas/microbiologia , Animais , Infecções por Campylobacter/epidemiologia , Infecções por Campylobacter/microbiologia , Galinhas , Bases de Dados Factuais , Dinamarca/epidemiologia , Prevalência , Fatores de RiscoRESUMO
We present measurements of the ac response of a single-electron box (SEB). We apply a radio frequency signal with a frequency larger than the tunneling rate and drive the system out of equilibrium. We observe much more dissipation in the SEB then one would expect from a simple circuit model. We can explain this in terms of a mechanism that we call the Sisyphus resistance. The Sisyphus resistance has a strong gate dependence which can be used for electrometery applications.