RESUMO
We detected a long-term transient deformation signal between 2014 and 2016 in the Atacama region (Chile) using survey Global Positioning System (GPS) observations. Over an â¼150 km along-strike region, survey GPS measurements in 2014 and 2016 deviate significantly from the interseismic trend estimated using previous observations. This deviation from steady state deformation is spatially coherent and reveals a horizontal westward diverging motion of several centimeters, along with a significant uplift. It is confirmed by continuous measurements of recently installed GPS stations. We discard instrumental, hydrological, oceanic, or atmospheric loading effects and show that the transient is likely due to deep slow slip in the transition zone of the subduction interface (â¼40- to 60-km depth). In addition, daily observations recorded by a continuous GPS station operating between 2002 and 2015 highlight similar transient signals in 2005 and 2009, suggesting a recurrent pattern.
RESUMO
Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases were detected prenatally, eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome. In general, this report together with data from the literature, supports the idea that ring chromosome patients fall into two groups: group one with (severe) clinical signs and symptoms due to the ring chromosome and group two with no obvious clinical problems apart from infertility.
RESUMO
Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, generally equal in size or smaller than a chromosome 20 of the same metaphase spread. Most of them are unexpectedly detected in routine karyotype analyses, and it is usually not easy to correlate them with a specific clinical picture. A small group of sSMCs is derived from more than one chromosome, called complex sSMCs. Here, we report on a patient with a de novo complex sSMC, derived from chromosomes 8 and 14. Banding karyotype analysis, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP)-based array, and fluorescence in situ hybridization (FISH) were performed to investigate its origin. Array and FISH analyses revealed a der(14)t(8;14)(p23.2;q22.1)dn. The propositus presents some clinical features commonly found in patients with partial duplication or triplication of 8p and 14q. This is the first report describing a patient with a congenital der(14)t(8;14)(p23.2;q22.1)dn sSMC.
Assuntos
Transtornos Cromossômicos/genética , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 8/genética , Anormalidades Múltiplas/genética , Pré-Escolar , Bandeamento Cromossômico , Transtornos Cromossômicos/patologia , Fatores de Transcrição Forkhead/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Masculino , Reação em Cadeia da Polimerase Multiplex , Proteínas do Tecido Nervoso/genética , Fenótipo , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Alcoholism is a frequent and underdiagnosed mental health problem of later life. Its detection often relies on the use of screening instruments such as the Michigan Alcoholism Screening Test (MAST). The authors investigated the properties of the scale in a sample of 122 older adults recruited from a geriatric outpatient service in São Paulo, Brazil. Thirty-five subjects met criteria for the diagnosis of alcohol abuse or dependence according to DSM-III-R. The cutoff point 4/5 was associated with a sensitivity of 91.4%, specificity of 83.9%, and positive and negative predictive values of 69.6% and 96.0%, respectively. These results indicate that the MAST is a good screening test for the detection of alcohol abuse and dependence in an elderly male population and that the MAST should be used in combination with a questionnaire assessing the frequency/quantity of alcohol consumption to optimize the detection of cases and characterize their current drinking patterns.
Assuntos
Alcoolismo/prevenção & controle , Avaliação Geriátrica , Programas de Rastreamento/métodos , Testes Psicológicos , Idoso , Brasil , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Alcohol abuse and dependence are an increasing health problem among the elderly, but there is only scanty information about their prevalence and associated risk factors in developing countries. The authors set out to evaluate the prevalence and associated clinical/demographic features of alcoholism in a sample of male elderly subjects attending a Geriatric Primary Health Outpatient Clinic in a State University Hospital in the City of São Paulo-Brazil. Three hundred four patients were assessed with the Brazilian version of the Michigan Alcoholism Screening Test and a semistructured questionnaire designed to investigate associated features. Lifetime alcoholism was present in 15.1% of the sample, although only 4.3% were active drinkers. Patients classified as "cases" were younger than their nonalcoholic counterparts (70.61 vs. 73.31), and there was a mild, though not significant, excess of Blacks and Mulattos among the former (32.6% vs. 15.9%). Cases were also more likely to rely on their family for financial support (59.0% vs. 43.5%) and to acknowledge a positive family history of alcoholism (51.4% vs. 31.2%). Alcohol abuse or dependence was further associated with heavy smoking (58.7% vs. 44.0%). The authors concluded that alcoholism in this Brazilian elderly sample was likely to be associated with an earlier age at onset of medical problems, financial dependence, Black/Mulatto race, smoking, and positive family history of alcohol abuse/dependence. The authors suggest that the use of standardized methods of assessment of alcoholism in general medical settings may increase the detection of cases and contribute to improved health measures for the management of these patients.
Assuntos
Alcoolismo/etiologia , Geriatria , Ambulatório Hospitalar , Idoso , Alcoolismo/diagnóstico , Brasil , Estudos de Casos e Controles , Humanos , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Inquéritos e Questionários , Saúde da População UrbanaRESUMO
This is a case report of a three-year-old girl with recurrent ear bleeding which was actually recurrent factitious symptomatology, perpetrated by the mother, which caused the child to undergo many harmful diagnostic procedures. This is a documented case, probably the first case reported in Latin America, and it is also the only one in which there is mention of the mother demonstrating interest in divulging the case. Munchausen's Syndrome by Proxy (MSBP) is a specific modality of child abuse. The mother, often the perpretator, affect concern and affection. The consequences are both psychological and physical and can determine child's death. Diagnosis is rarely considered.
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Reportamos una familia de 69 personas cuyos miembros nacieron en una ciudad ubicada a 2,700 metros sobre el nivel del mar, 20 de los cuales fueron afectados con ataxia cerebelosa progresiva autosómica dominante. Las edades de los pacientes estaban entre 16 y 69 años. En todos ellos se comprobó prolapso de la válvula mitral. La ataxia se asoció con piramidalismo, disminución de la agudeza visual por alteraciones del pigmento retiniano, degeneración pigmentaria de la mácula, así como palidez y atrofia del nevio óptico. El estudio con tomografía axial computarizada del cerebro demostró atrofia del cerebelo, del tronco cerebral y de los hemisferios cerebrales. Hubo diversos grados de alteraciones en la motilidad conjugada de los ojos. Las pruebas neuropsicológicas para determinar el nivel de inteligencia, en doce pacientes, demostraron deficiencia mental en todos ellos.
Assuntos
Ataxia Cerebelar , Deficiência Intelectual , Prolapso da Valva Mitral , Epitélio Pigmentado OcularRESUMO
Medication cart filling with an automated dispensing system was compared with manual cart filling with respect to personnel time, costs, and accuracy. At a 650-bed tertiary-care medical center, technician cart filling and pharmacist cart checking were timed for the existing manual system and for the Baxter ATC-212 automated dispensing system. Subsequently, carts filled with each system were checked for accuracy of dispensing. On the basis of drugs used in the automated system over three months, drug acquisition and dispensing costs were calculated for automated and manual cart filling; the costs of personnel time were also compared. Daily cart filling time for technicians was significantly less with the automated system. The savings of pharmacist time was not significant; pharmacists had to cut the strip-packaged drugs into individual doses as they checked patients' medications. For both systems, errors were found in fewer than 1% of the doses (0.84% for the manual system and 0.65% for the automated system). Drug costs were higher with the automated system; acquisition prices for the bulk drugs purchased for use in the dispensing machine were higher than the prices of the same products in unit dose packaging. Personnel time saved amounted to less than 0.5 full-time equivalent. With the automated system, overall time savings was not great enough to substantially affect pharmacy operations, and drug costs were higher.