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2.
Sci Rep ; 10(1): 2063, 2020 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-32034249

RESUMO

Understanding the impact of the disease on quality of life is crucial in patient management. In this cross-sectional study, general and oral health-related quality of life questionnaires, and thorough examinations of oral and ocular dryness were performed in age- and sex-matched patients with primary Sjögren's syndrome (pSS group), non-Sjögren's syndrome sicca (non-SS group) and healthy controls. General and oral health-related quality of life were investigated with the 36-Item Short Form Health Survey and the 14-Item Oral Health Impact Profile questionnaires, respectively. Subjective symptoms of xerostomia and ocular dryness were recorded using the Summated Xerostomia Inventory and Ocular Surface Disease Index, respectively. Clinical examinations included evaluation of clinical oral dryness scores, candida counts, unstimulated and stimulated saliva secretory rates, tear osmolarity, tear film break-up time, Schirmer I test and ocular surface staining. Both patient groups had pronounced signs and symptoms of xerostomia and ocular dryness. Even though the non-SS patients had less severe clinical signs than the pSS patients, they demonstrated much poorer general and oral health-related quality of life. In conclusion, non-SS patients require more attention in order to improve their quality of life.


Assuntos
Saúde Bucal/estatística & dados numéricos , Qualidade de Vida , Doenças das Glândulas Salivares/complicações , Síndrome de Sjogren/complicações , Adulto , Idoso , Estudos de Casos e Controles , Síndromes do Olho Seco/complicações , Feminino , Nível de Saúde , Humanos , Pessoa de Meia-Idade , Inquéritos e Questionários , Adulto Jovem
3.
PLoS One ; 14(6): e0218319, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31211815

RESUMO

OBJECTIVES: Primary Sjögren's syndrome (pSS) is an autoimmune disease characterized by reduced lacrimal and salivary secretion. Sicca symptoms together with fatigue and musculoskeletal pain can significantly reduce the patients' quality of life. Furthermore, low salivary secretion may disrupt the oral microbial homeostasis. The aim of this study was to compare the salivary microbiota from pSS patients with patients with sicca symptoms not fulfilling the classification criteria for pSS (non-SS), and with healthy controls without sicca complaints. METHODS: Pellets from centrifuged chewing-stimulated whole saliva from pSS patients (n = 15), non-SS sicca patients (n = 15) and healthy controls (n = 15) were prepared. DNA was extracted and analyzed by 16S rRNA gene sequencing. The acquired sequencing data were performed using the human oral microbiome database (HOMD). RESULTS: We detected 42, 45, and 34 bacterial genera in saliva samples from pSS patients, non-SS sicca patients, and healthy controls, respectively. The most abundant genera in all samples were Prevotella, Veillonella, Streptococcus, and Haemophilus. At species level Streptococcus intermedius, Prevotella intermedia, Fusobacterium nucleatum subsp. vincentii, Porphyromonas endodontalis, Prevotella nancensis, Tannerella spp., and Treponema spp. were detected in the samples from pSS and non-SS only, while Porphyromonas pasteri was mostly found among the healthy controls. CONCLUSION: Our study indicated dysbiosis in the salivary microbiota from pSS and non-SS patients compared to healthy controls. Additionally, the results showed that the salivary microbiome in the pSS group differed significantly from the non-SS group.


Assuntos
Disbiose/microbiologia , Microbiota/genética , Dor Musculoesquelética/microbiologia , Síndrome de Sjogren/microbiologia , Bactérias/classificação , Bactérias/genética , Disbiose/metabolismo , Disbiose/patologia , Feminino , Haemophilus/genética , Haemophilus/isolamento & purificação , Humanos , Masculino , Pessoa de Meia-Idade , Boca/microbiologia , Dor Musculoesquelética/complicações , Dor Musculoesquelética/genética , Dor Musculoesquelética/fisiopatologia , Prevotella/genética , Prevotella/isolamento & purificação , Qualidade de Vida , RNA Ribossômico 16S/genética , Saliva/microbiologia , Síndrome de Sjogren/complicações , Síndrome de Sjogren/genética , Síndrome de Sjogren/fisiopatologia , Streptococcus/genética , Streptococcus/isolamento & purificação , Veillonella/genética , Veillonella/isolamento & purificação
4.
Eur J Soil Sci ; 69(4): 604-612, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30174536

RESUMO

Assessments of changes in soil organic carbon (SOC) stocks depend heavily on reliable values of SOC content obtained by automated high-temperature C analysers. However, historical as well as current research often relies on indirect SOC estimates such as loss-on-ignition (LOI). In this study, we revisit the conversion of LOI to SOC using soil from two long-term agricultural field experiments and one arable field with different contents of SOC, clay and particles <20 µm (Fines20). Clay-, silt- and sand-sized fractions were isolated from the arable soil. Samples were analysed for texture, LOI (500°C for 4 hours) and SOC by dry combustion. For a topsoil with 2 g C and 30 g clay 100 g-1 soil, converting LOI to SOC by the conventional factor 0.58 overestimated the SOC stock by 45 Mg C ha-1. The error increased with increasing contents of clay and Fines20. Converting LOI to SOC by a regression model underestimated the SOC stock by 5 Mg C ha-1 at small clay and Fines20 contents and overestimated the SOC stock by 8 Mg C ha-1 at large contents. This was due to losses of structural water from clay minerals. The best model to convert LOI to SOC incorporated clay content. Evaluating this model against an independent dataset gave a root mean square error and mean error of 0.295 and 0.125 g C 100 g-1, respectively. To avoid misleading accounts of SOC stocks in agricultural soils, we recommend re-analysis of archived soil samples for SOC using high-temperature dry combustion methods. Where archived samples are not available, accounting for clay content improves conversion of LOI to SOC considerably. The use of the conventional conversion factor 0.58 is antiquated and provides misleading estimates of SOC stocks. HIGHLIGHTS: Assessment of SOC contents is often based on less accurate methods such as LOI.Reliable accounts of changes in SOC stocks remain high on the agenda (4‰ initiative).Conversion of LOI to SOC is considerably improved by accounting for clay content.Converting LOI to SOC by the conventional factor 0.58 leads to grossly overestimated SOC stocks.

5.
Clin Exp Immunol ; 192(3): 259-270, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29453859

RESUMO

Genetic investigations of Sjögren's syndrome (SS) have identified a susceptibility locus at p23.3 of chromosome 11, which contains the CXCR5 gene. C-X-C motif chemokine receptor 5 (CXCR5) is a chemokine receptor expressed on B and T cell subsets, and binds the chemotactic ligand C-X-C motif chemokine ligand 13 (CXCL13). In this study we aimed to link the genetic association with functional effects and explore the CXCR5/CXCL13 axis in SS. Expression quantitative trait loci analysis of the 11q23.3 locus was performed using B cell mRNA expression data from genotyped individuals. Lymphocyte surface markers were assessed by flow cytometry, and CXCL13 levels by a proximity extension assay. CXCR5+ and CXCL13+ cells in minor salivary glands were detected using immunohistochemistry. Our results demonstrated that SS-associated genetic polymorphisms affected the expression of CXCR5 (P < 0·01). Notably, a decreased percentage of CXCR5+ cells, with lower CXCR5 expression, was observed for most circulating B and T cell subsets in SS patients, reaching statistical significance in CD19+ CD27+ immunoglobulin (Ig)D+ marginal zone (P < 0·001), CD19+ CD27+ IgD- memory (P < 0·05) and CD27-IgD double-negative (P < 0·01) B cells and CD4+ CXCR3- CCR6+ Th17 cells (P < 0·05). CXCL13 levels were increased in patient plasma (P < 0·001), and immunohistochemical staining revealed expression of CXCL13 and higher numbers of CXCR5+ cells (P < 0·0001) within focal infiltrates and interstitially in salivary glands of SS patients. In conclusion, we link a genetic susceptibility allele for SS to a functional phenotype in terms of decreased CXCR5 expression. The decrease of CXCR5+ cells in circulation was also related to homing of B and T cells to the autoimmune target organ. Therapeutic drugs targeting the CXCR5/CXCL13 axis may be useful in SS.


Assuntos
Subpopulações de Linfócitos B/imunologia , Quimiocina CXCL13/sangue , Receptores CXCR5/sangue , Síndrome de Sjogren/sangue , Subpopulações de Linfócitos T/imunologia , Adolescente , Adulto , Quimiocina CXCL13/metabolismo , Cromossomos Humanos Par 11/genética , Feminino , Predisposição Genética para Doença/genética , Humanos , Inflamação/imunologia , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético/genética , Receptores CXCR5/biossíntese , Síndrome de Sjogren/genética , Síndrome de Sjogren/imunologia , Adulto Jovem
6.
CJEM ; 18(3): 213-22, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26832320

RESUMO

OBJECTIVE: Two major processes underlie human decision-making: experiential (intuitive) and rational (conscious) thinking. The predominant thinking process used by working paramedics and student paramedics to make clinical decisions is unknown. METHODS: A survey was administered to ground ambulance paramedics and to primary care paramedic students. The survey included demographic questions and the Rational Experiential Inventory-40, a validated psychometric tool involving 40 questions. Twenty questions evaluated each thinking style: 10 assessed preference and 10 assessed ability to use that style. Responses were provided on a five-point Likert scale, with higher scores indicating higher affinity for the style in question. Analysis included both descriptive statistics and t tests to evaluate differences in thinking style. RESULTS: The response rate was 88.4% (1172/1326). Paramedics (n=904) had a median age of 36 years (IQR 29-42) and most were male (69.5%) and primary or advanced care paramedics (PCP=55.5%; ACP=32.5%). Paramedic students (n=268) had a median age of 23 years (IQR 21-26), most were male (63.1%) and had completed high school (31.7%) or an undergraduate degree (25.4%) prior to paramedic training. Both groups scored their ability to use and favourability toward rational thinking significantly higher than experiential thinking. The mean score for rational thinking was 3.86/5 among paramedics and 3.97/5 among paramedic students (p<0.001). The mean score for experiential thinking was 3.41/5 among paramedics and 3.35/5 among paramedic students (p=0.06). CONCLUSION: Working paramedics and student paramedics prefer and perceive that they have the ability to use rational over experiential thinking. This information adds to our current knowledge on paramedic decision-making and is potentially important for developing continuing education and clinical support tools.


Assuntos
Pessoal Técnico de Saúde/psicologia , Tomada de Decisões , Medicina de Emergência/educação , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Nova Escócia , Psicometria , Inquéritos e Questionários , Pensamento
7.
CJEM ; 17(5): 484-90, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26062819

RESUMO

BACKGROUND: A recent mixed-methods study on the state of emergency medical services (EMS) research in Canada led to the generation of nineteen actionable recommendations. As part of the dissemination plan, a survey was distributed to EMS stakeholders to determine the anticipated impact and feasibility of implementing these recommendations in Canadian systems. METHODS: An online survey explored both the implementation impact and feasibility for each recommendation using a five-point scale. The sample consisted of participants from the Canadian National EMS Research Agenda study (published in 2013) and additional EMS research stakeholders identified through snowball sampling. Responses were analysed descriptively using median and plotted on a matrix. Participants reported any planned or ongoing initiatives related to the recommendations, and required or anticipated resources. Free text responses were analysed with simple content analysis, collated by recommendation. RESULTS: The survey was sent to 131 people, 94 (71.8%) of whom responded: 30 EMS managers/regulators (31.9%), 22 researchers (23.4%), 15 physicians (16.0%), 13 educators (13.8%), and 5 EMS providers (5.3%). Two recommendations (11%) had a median impact score of 4 (of 5) and feasibility score of 4 (of 5). Eight recommendations (42%) had an impact score of 5, with a feasibility score of 3. Nine recommendations (47%) had an impact score of 4 and a feasibility score of 3. CONCLUSIONS: For most recommendations, participants scored the anticipated impact higher than the feasibility to implement. Ongoing or planned initiatives exist pertaining to all recommendations except one. All of the recommendations will require additional resources to implement.


Assuntos
Serviços Médicos de Emergência/organização & administração , Política de Saúde , Pesquisa sobre Serviços de Saúde/métodos , Guias de Prática Clínica como Assunto , Canadá , Estudos Transversais , Estudos de Viabilidade , Humanos , Estudos Retrospectivos , Inquéritos e Questionários
8.
J Fish Biol ; 84(6): 1640-53, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24798261

RESUMO

The migratory behaviour and spatial area use of sympatric Arctic charr Salvelinus alpinus and brown trout Salmo trutta were investigated during their marine feeding migration. The likelihood of finding individuals of both species in the inner or outer fjord areas was dependent on water temperature in the inner area (especially for S. alpinus), the temperature difference between the inner and outer areas (especially for S. trutta) and fish fork length (both species). The strongest predictor was the water temperature in the inner area, and particularly S. alpinus left this area and moved to the outer areas with increasing temperatures in the inner area. At 8° C in the inner area, the likelihood of finding S. alpinus in the outer areas was >50%. This predictor had a smaller effect on S. trutta, and the likelihood of finding S. trutta in the outer areas only started to increase at around 14° C. The relationships between temperature and area use did not correspond to the species' optimal growth temperatures, but to their previously documented temperature preferences. Individuals of both species used mainly the littoral fjord areas, and to a lesser extent the pelagic areas. In conclusion, temperature differences between the inner and outer marine areas probably resulted in the segregated area use between the species, because water temperatures or factors influenced by temperature affected their migratory behaviour and habitat use differently. The results indicate that increased marine temperatures with global warming may lead to increased spatial overlap between S. trutta and S. alpinus, which again may lead to increased interspecific competition during their marine phase, and with S. alpinus probably being the more negatively affected.


Assuntos
Migração Animal , Ecossistema , Oncorhynchus mykiss/crescimento & desenvolvimento , Temperatura , Truta/crescimento & desenvolvimento , Animais , Noruega , Água do Mar , Telemetria
9.
Dentomaxillofac Radiol ; 42(10): 20130034, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24048692

RESUMO

OBJECTIVES: To describe the panoramic radiographic and CT features of cherubism in an unselected series of 15 adults. METHODS: In this cross-sectional study, 15 individuals aged 29-84 years with familial non-syndromal molecularly confirmed cherubism were examined with panoramic radiography and CT. Bone abnormalities were analysed and described. RESULTS: 11 (73%) of the 15 adults had mandibular abnormalities. These abnormalities ranged from subtly detectable to severe, and were less prevalent and expansive but could be rather similar to the characteristic image features in children. Unilocular radiolucencies were more common than multilocular radiolucencies, and a specific feature of these abnormalities was that they were exclusively found in the anterior mandible. CONCLUSIONS: The radiographic and CT abnormalities of cherubism in adults were frequent and extremely heterogeneous, with some distinct features.


Assuntos
Querubismo/diagnóstico por imagem , Radiografia Panorâmica/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Processo Alveolar/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Masculino , Doenças Mandibulares/diagnóstico por imagem , Doenças Maxilares/diagnóstico por imagem , Seio Maxilar/diagnóstico por imagem , Pessoa de Meia-Idade , Palato/diagnóstico por imagem
10.
J Fish Biol ; 82(3): 1068-73, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23464562

RESUMO

The potential of the gill maggot Salmincola salmoneus for use as an indicator of repeat spawning in Atlantic salmon Salmo salar was studied in adult fish captured during their return migration to the River Alta (n = 659) and River Namsen (n = 540) in Norway. Eighty-eight and 49% of previous spawners identified by scale readings were infected with S. salmoneus in the two rivers, respectively. Salmincola salmoneus can be used as a reliable, rapid and objective field indicator of repeat spawning in S. salar as nearly all infected fish (99·4%) were identified as repeat spawners, although it is important to have appropriate background information on S. salmoneus prevalence on the postspawning individuals within the same population.


Assuntos
Migração Animal , Copépodes/fisiologia , Brânquias/parasitologia , Salmo salar/parasitologia , Animais , Feminino , Masculino , Noruega , Rios
11.
J Evol Biol ; 26(1): 51-62, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23163349

RESUMO

Understanding the social organization of group-living organisms is crucial for the comprehension of the underlying selective mechanisms involved in the evolution of cooperation. Division of labour and caste formation is restricted to eusocial organisms, but behavioural asymmetries and reproductive skew is common in other group-living animals. Permanently, social spiders form highly related groups with reproductive skew and communal brood care. We investigated task differentiation in nonreproductive tasks in two permanently and independently derived social spider species asking the following questions: Do individual spiders vary consistently in their propensity to engage in prey attack? Are individual spiders' propensities to engage in web maintenance behaviour influenced by their previous engagement in prey attack? Interestingly, we found that both species showed some degree of task specialization, but in distinctly different ways: Stegodyphus sarasinorum showed behavioural asymmetries at the individual level, that is, individual spiders that had attacked prey once were more likely to attack prey again, independent of their body size or hunger level. In contrast, Anelosimus eximius showed no individual specialization, but showed differentiation according to instar, where adult and subadult females were more likely to engage in prey attack than were juveniles. We found no evidence for division of labour between prey attack and web maintenance. Different solutions to achieve task differentiation in prey attack for the two species studied here suggest an adaptive value of task specialization in foraging for social spiders.


Assuntos
Comportamento Animal , Comportamento Predatório , Aranhas/fisiologia , Fatores Etários , Animais , Tamanho Corporal/genética , Feminino , Masculino , Especificidade da Espécie
12.
J Fish Biol ; 81(2): 735-49, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22803733

RESUMO

By tagging north-Norwegian anadromous riverine Arctic charr Salvelinus alpinus and brown trout Salmo trutta with simple archival tags that measured ambient water temperature and relating the recordings to the temperature in the surrounding environments, it was demonstrated that 91% of the S. trutta and 80% of the S. alpinus utilized the estuarine and marine environment during the winter. There was large individual variation in migratory behaviour. Salvelinus alpinus on average entered the estuary on 12 January and the marine environment on 26 February, had continuous marine migrations lasting up to 55 days, and spent on average 40 days in the estuary and 25 days in the sea during the winter. The corresponding numbers for S. trutta were 15 December and 4 January for first entry in the estuary and sea, maximum 39 days in the marine environment and average number of days in the estuary and sea were 34 and 50. Most individuals of both species frequently shifted between the three habitats. These findings thus contradict previous studies conducted on lake-dwelling populations, which suggested that northern populations of both species solely overwinter in fresh water. The use of inexpensive temperature recording archival tags gave detailed continuous information on seasonal migrations between habitats with different thermal characteristics.


Assuntos
Migração Animal , Ecossistema , Estações do Ano , Truta/fisiologia , Sistemas de Identificação Animal , Animais , Água Doce , Noruega , Rios , Água do Mar , Temperatura
13.
Eur Arch Paediatr Dent ; 10(4): 244-7, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19995511

RESUMO

BACKGROUND: Regional odontodysplasia, also described as ghost teeth, has been described on a number of occasions, in some cases generalized odontodysplasia affecting both the primary and the permanent dentition. However, generalised odontodysplasia is a very rare finding, involving large pulps and short roots of the whole dentition and in the cases previously reported the teeth finally erupt. In the case reported on herein this has not happened. CASE REPORT: A female patient, now aged 22-years-old, cared for in the TAKO-centre (Oslo) since she was 5 years old, presented with a continuing problem of absence of permanent teeth due to total lack of eruption. All her permanent teeth were either retained intra-alveolar or had been extracted following previous periods of pain and infections. There was no enamel on any of the permanent teeth and the dentine was softer than normal. In addition, there appeared to be very little potential for eruption. Hence, tooth development was affected in all aspects. Her skeletal height was much shorter than expected taking her tall parents into consideration. After all possible assessments, no specific diagnosis for the condition of this young woman has been determined. TREATMENT: Before the present series of dental care the patient was wearing full dentures in both jaws. In the autumn of 2007, implants were placed in her maxilla and an implant supported fixed prosthesis in porcelain was installed the following spring. Similarly, implants were placed in her mandible, partly in retained teeth, in the autumn of 2008, and an implant supported fixed prosthesis was inserted during the spring of 2009. FOLLOW-UP: after prosthetic treatment a dental hygienist has seen the patient regularly. No problems or signs of infections have occurred to date. CONCLUSION: This case report concerns a rare and apparently un-named syndrome affecting both primary and permanent teeth. This paper has been written with an aim of gathering the views as to the aetiology of her problem, hopefully finally to provide a definitive diagnosis.


Assuntos
Esmalte Dentário/anormalidades , Dentina/anormalidades , Dente não Erupcionado/patologia , Implantes Dentários , Prótese Dentária Fixada por Implante , Prótese Total , Feminino , Seguimentos , Humanos , Reabilitação Bucal , Síndrome , Dente Decíduo/anormalidades , Dente Decíduo/patologia , Adulto Jovem
14.
Br J Cancer ; 92(12): 2240-8, 2005 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-15956967

RESUMO

The majority of microsatellite instable (MSI) colorectal cancers are sporadic, but a subset belongs to the syndrome hereditary non-polyposis colorectal cancer (HNPCC). Microsatellite instability is caused by dysfunction of the mismatch repair (MMR) system that leads to a mutator phenotype, and MSI is correlated to prognosis and response to chemotherapy. Gene expression signatures as predictive markers are being developed for many cancers, and the identification of a signature for MMR deficiency would be of interest both clinically and biologically. To address this issue, we profiled the gene expression of 101 stage II and III colorectal cancers (34 MSI, 67 microsatellite stable (MSS)) using high-density oligonucleotide microarrays. From these data, we constructed a nine-gene signature capable of separating the mismatch repair proficient and deficient tumours. Subsequently, we demonstrated the robustness of the signature by transferring it to a real-time RT-PCR platform. Using this platform, the signature was validated on an independent test set consisting of 47 tumours (10 MSI, 37 MSS), of which 45 were correctly classified. In a second step, we constructed a signature capable of separating MMR-deficient tumours into sporadic MSI and HNPCC cases, and validated this by a mathematical cross-validation approach. The demonstration that this two-step classification approach can identify MSI as well as HNPCC cases merits further gene expression studies to identify prognostic signatures.


Assuntos
Adenocarcinoma/genética , Neoplasias do Colo/genética , Neoplasias Colorretais Hereditárias sem Polipose/genética , Expressão Gênica/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Pareamento Incorreto de Bases/genética , Instabilidade Cromossômica/genética , Reparo do DNA/genética , Perfilação da Expressão Gênica , Humanos , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos , Valor Preditivo dos Testes
15.
Neurology ; 60(11): 1811-6, 2003 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-12796536

RESUMO

BACKGROUND: Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome). Although pathogenic mechanisms have been proposed for select mutations, a common mechanism has not been identified. METHODS: Seventeen probands presenting with symptoms characteristic of ATS were evaluated clinically and screened for mutations in KCNJ2. The results of mutation analysis were combined with those from previously studied subjects to assess the frequency with which KCNJ2 mutations cause ATS. RESULTS: Mutations in KCNJ2 were discovered in nine probands. These included six novel mutations (D71N, T75R, G146D, R189I, G300D, and R312C) as well as previously reported mutations R67W and R218W. Six probands possessed mutations of residues implicated in binding membrane-associated phosphatidylinositol 4,5-bisphosphate (PIP2). In total, mutations in PIP(2)-related residues accounted for disease in 18 of 29 (62%) reported KCNJ2 -based probands with ATS. Also reported is that mutation R67W causes the full clinical triad in two unrelated males. CONCLUSIONS: The novel mutations corresponding to residues involved in Kir2.1 channel-PIP2 interactions presented here as well as the overall frequency of mutations occurring in these residues indicate that defects in PIP2 binding constitute a major pathogenic mechanism of ATS. Furthermore, screening KCNJ2 in patients with the complex phenotypes of ATS was found to be invaluable in establishing or confirming a disease diagnosis as mutations in this gene can be identified in the majority of patients.


Assuntos
Anormalidades Múltiplas/genética , Arritmias Cardíacas/genética , Mutação , Paralisia/genética , Fosfatidilinositol 4,5-Difosfato/metabolismo , Canais de Potássio Corretores do Fluxo de Internalização/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Arritmias Cardíacas/diagnóstico , Sítios de Ligação , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Debilidade Muscular/genética , Paralisia/diagnóstico , Linhagem , Fenótipo , Canais de Potássio Corretores do Fluxo de Internalização/química , Canais de Potássio Corretores do Fluxo de Internalização/metabolismo , Síndrome
16.
Scand J Urol Nephrol ; 37(1): 83-4, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12745751

RESUMO

We report a case of recurrent priapism in a boy. There were no recurrences during or after oral treatment with Bricanyl (terbutaline).


Assuntos
Agonistas Adrenérgicos beta/uso terapêutico , Priapismo/tratamento farmacológico , Terbutalina/uso terapêutico , Adolescente , Humanos , Masculino , Priapismo/diagnóstico , Priapismo/etiologia
17.
Phys Rev E Stat Nonlin Soft Matter Phys ; 65(5 Pt 1): 051903, 2002 May.
Artigo em Inglês | MEDLINE | ID: mdl-12059589

RESUMO

A detailed investigation of phonon modes in DNA macromolecules is presented. This work presents experimental evidence to confirm the presence of multiple dielectric resonances in the submillimeter-wave spectra (i.e., approximately 0.01-10 THz) obtained from DNA samples. These long-wave (i.e., approximately 1-30 cm(-1)) absorption features are shown to be intrinsic properties of the particular DNA sequence under study. Most importantly, a direct comparison of spectra between different DNA samples reveals a large number of modes and a reasonable level of sequence-specific uniqueness. This work establishes the initial foundation for the future use of submillimeter-wave spectroscopy in the identification and characterization of DNA macromolecules.


Assuntos
Biofísica/métodos , DNA/química , Conformação de Ácido Nucleico , Modelos Teóricos , Análise Espectral/métodos
18.
Exp Aging Res ; 27(4): 361-76, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11681198

RESUMO

The purpose of this study was to evaluate age-related differences in the mechanics of the compensatory stepping response to balance threats. A moving platform was used to disturb the balance of 16 younger (21 to 35 years) and 19 older (68 to 88 years) adults. Backward platform translations consisted of 15-cm displacements with peak accelerations ranging from 9.4 to 15.2 m/s2. Older adults were more likely to use a step to recover balance and stepped at lower perturbation magnitudes than younger adults. Group differences were not found in time to step initiation or segmental momentum. The lack of group differences in momentum revealed that lower perturbation accelerations created an equivalent or greater magnitude of body motion in older adults compared to higher accelerations experienced by younger adults. Older adults also showed a reduced ability to attenuate the input acceleration and experienced significantly greater linear acceleration of the head.


Assuntos
Envelhecimento/fisiologia , Avaliação Geriátrica , Aptidão Física/fisiologia , Saúde da Mulher , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos
19.
Gait Posture ; 14(3): 256-63, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11600329

RESUMO

The translating platform paradigm is widely used to investigate the regulation of upright standing and locomotion. This study investigated how the displacement waveform characteristics underlying the translating platform perturbation are revealed in the resulting postural response. Eight participants experienced a series of backward-directed perturbations using a hydraulically driven forceplate. Two ranges of platform displacement (5 and 15 cm) in combination with two peak velocities (40 and 60 cm/s) were achieved using three distinct waveforms for platform displacement: (a) RAMP: ramp onset and ramp offset, (b) Ramp-to-Parabola (R-P): ramp onset with parabolic offset and (c) SINE: sine-wave onset with sine wave offset. Our findings indicated that the unique and distinctive acceleration and deceleration characteristics that result from the three different platform displacement waveforms significantly altered the postural response to the perturbation.


Assuntos
Equilíbrio Postural , Postura , Transtornos das Sensações/fisiopatologia , Adulto , Feminino , Humanos , Cinética , Masculino , Análise e Desempenho de Tarefas
20.
Oral Dis ; 7(4): 226-32, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11575873

RESUMO

INTRODUCTION: Ectodermal dysplasias (EDs) involve abnormal development of hair, teeth, nails, and sweat glands. OBJECTIVES: (1) To investigate the frequency of extraoral ectodermal symptoms in persons with oligodontia (>6 congenitally missing teeth). (2) To examine whole salivary flow rates in oligodontia patients, with special emphasis on persons with EDs. SURVEY GROUP AND METHODS: Sixty-eight persons with oligodontia and 39 healthy control persons were included. All participants underwent an interview, general and oral examinations, and whole salivary secretory tests. RESULTS: Thirty-nine (57%) of the oligodontia patients had disturbances in either hair, nails and/or sweat production in addition to teeth and were classified as the ED group. The remaining 29 oligodontia patients had no obvious signs of EDs (non-ED group). The prevalences of dry skin, asthma and eczema were higher, and whole salivary secretory rates lower, in the ED group as compared to the control group. Intermediate values were observed in the non-ED group. Incisors, canines and molars were more frequently missing in the ED group than in the non-ED group, whereas no differences were observed in the frequency of missing premolars. Negative correlations between the number of missing teeth and unstimulated and chewing stimulated whole salivary secretory rates were found.


Assuntos
Anodontia/complicações , Displasia Ectodérmica/complicações , Saliva/metabolismo , Adolescente , Adulto , Idoso , Anodontia/fisiopatologia , Asma/complicações , Dente Pré-Molar/anormalidades , Estudos de Casos e Controles , Criança , Pré-Escolar , Dente Canino/anormalidades , Displasia Ectodérmica/fisiopatologia , Eczema/complicações , Feminino , Cabelo/anormalidades , Humanos , Incisivo/anormalidades , Masculino , Pessoa de Meia-Idade , Dente Molar/anormalidades , Unhas Malformadas , Taxa Secretória/fisiologia , Dermatopatias/complicações , Estatística como Assunto , Estatísticas não Paramétricas , Suor/metabolismo
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