RESUMO
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nuclear RNA which is a critical component of the minor spliceosome. We report here four foetuses and four unrelated patients with RNU4ATAC mutations. We provide antenatal descriptions of this rare syndrome including unusual features found in two twin foetuses with compound heterozygosity for two rare mutations who presented with mild intrauterine growth retardation and atypical dysmorphic facial features. We also carried out a literature review of the patients described up to now with RNU4ATAC mutations, affected either with TALS or Roifman syndrome, a recently described allelic disorder.
Assuntos
Anormalidades Múltiplas/genética , Cardiomiopatias/genética , Nanismo/genética , Retardo do Crescimento Fetal/genética , Síndromes de Imunodeficiência/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Microcefalia/genética , Osteocondrodisplasias/genética , RNA Nuclear Pequeno/genética , Doenças Retinianas/genética , Anormalidades Múltiplas/fisiopatologia , Alelos , Cardiomiopatias/fisiopatologia , Criança , Pré-Escolar , Nanismo/fisiopatologia , Feminino , Retardo do Crescimento Fetal/fisiopatologia , Feto , Humanos , Síndromes de Imunodeficiência/fisiopatologia , Lactente , Recém-Nascido , Masculino , Deficiência Intelectual Ligada ao Cromossomo X/fisiopatologia , Microcefalia/fisiopatologia , Mutação , Osteocondrodisplasias/fisiopatologia , Fenótipo , Doenças da Imunodeficiência Primária , Doenças Retinianas/fisiopatologia , Spliceossomos/genéticaAssuntos
Secretases da Proteína Precursora do Amiloide/química , Hidradenite Supurativa/genética , Glicoproteínas de Membrana/genética , Fenótipo , Adulto , Secretases da Proteína Precursora do Amiloide/genética , Feminino , Humanos , Masculino , Glicoproteínas de Membrana/química , Pessoa de Meia-Idade , Projetos Piloto , Deleção de SequênciaRESUMO
A large geophysical program of exploration that uses deep seismic sounding has been under way in the Soviet Union for decades. Underground nuclear explosives have been used as strong seismic sources since 1971. The wide spacing between these seismic sources-for example, 500 kilometers-has permitted seismic exploration of inaccessible areas in traverses up to 3000 kilometers in length. During the same time an ultra-deep drilling program has also been under way. The data gathered have been used to elucidate details of the crust as well as to describe layering and inhomogeneities in the underlying mantle. By Soviet account, deep seismic sounding has been instrumental in confirming the existence of numerous sedimentary structures containing oil and gas fields in western and eastern Siberia.
RESUMO
Respiratory viruses trigger the majority of common colds, acute respiratory illnesses in children during the cold season as well as acute exacerbations of asthma and chronic obstructive pulmonary disease. They also play a role in community acquired pneumonia. Unfortunately their detection is still difficult. The aim of this review is therefore to introduce the methods of detection and to present the current knowledge of the clinical role of respiratory viruses in different diseases.
Assuntos
Infecções Respiratórias/virologia , Viroses/diagnóstico , Diagnóstico Diferencial , Humanos , Recidiva , Ativação ViralRESUMO
Severe recessive dystrophic epidermolysis bullosa is a very rare inherited disease with excessive blisters forming starting at birth. Surgical intervention in this population creates a challenge: preventing formation of new lesions while managing previously scarred tissues. We present a case of a 27-year-old patient with end-stage renal disease caused by rapidly progressive IgA nephropathy. Living donor kidney transplantation was performed under local, spinal and epidural anesthesia. Living kidney transplantation in epidermolysis bullosa patients with end-stage renal disease should not be a contraindication for transplantation and should be considered as a viable and feasible option after careful preparation.
Assuntos
Epidermólise Bolhosa Distrófica/complicações , Transplante de Rim/métodos , Adulto , Anestesia Epidural , Glomerulonefrite por IGA/complicações , Humanos , Falência Renal Crônica/etiologia , Falência Renal Crônica/cirurgia , Doadores Vivos , MasculinoRESUMO
OBJECTIVE: Determining possible differences in living donor nephrectomy procedures: laparoscopy against mini-incision concerning discomfort to the donor and the maintenance of good graft function. DESIGN: Blind randomized study. METHOD: In two university medical centres, one hundred living kidney donors were randomly assigned to either total laparoscopic donor nephrectomy or mini-incision muscle-splitting open donor nephrectomy. Primary outcome was physical fatigue measured with the 'Multidimensional Fatigue Inventory' (MFI-20) during one-year follow-up. Secondary outcomes were physical function measured with the 'Short form-36' questionnaire, postoperative hospital stay, amount of pain, operating times and graft and patient survival. RESULTS: Donors who underwent laparoscopy experienced less fatigue (difference: -1.3; 95% CI: -2.4 - (-0.1)) and physical function was better (difference: 6.2; 95% CI: 2.0-10.3) during one-year follow-up. Those donors who underwent laparoscopy required less morphine (16 mg versus 25 mg; p = 0.005) and the duration of hospital stay was shorter (3 versus 4 days; p = 0.003). The laparoscopic procedure resulted in a longer operation time (221 versus 164 min; p < 0.001) a longer first warm ischaemia time (6 versus 3 min; p < 0.001) and less blood loss (100 versus 240 ml; p < 0.001). Recipient renal function and one-year graft survival rates did not differ. The number of preoperative and postoperative complications did not differ significantly between both surgery techniques. Conversions did not occur. CONCLUSION: Donor nephrectomy through laparoscopy led to less fatigue and a better quality of life compared with the open procedure. The safety factors for donors and recipients were comparable for both techniques. Laparoscopic donor nephrectomy is therefore the better surgical choice for kidney donor programmes with living donors.
RESUMO
BACKGROUND AND METHODS: Human metapneumovirus (hMPV) is a recently discovered respiratory virus associated with bronchiolitis, pneumonia, croup and exacerbations of asthma. Since respiratory viruses are frequently detected in patients with acute exacerbations of COPD (AE-COPD) it was our aim to investigate the frequency of hMPV detection in a prospective cohort of hospitalized patients with AE-COPD compared to patients with stable COPD and to smokers without by means of quantitative real-time RT-PCR. RESULTS: We analysed nasal lavage and induced sputum of 130 patients with AE-COPD, 65 patients with stable COPD and 34 smokers without COPD. HMPV was detected in 3/130 (2.3%) AE-COPD patients with a mean of 6.5 x 10(5) viral copies/ml in nasal lavage and 1.88 x 10(5) viral copies/ml in induced sputum. It was not found in patients with stable COPD or smokers without COPD. CONCLUSION: HMPV is only found in a very small number of patients with AE-COPD. However it should be considered as a further possible viral trigger of AE-COPD because asymptomatic carriage is unlikely.
Assuntos
Metapneumovirus/isolamento & purificação , Infecções por Paramyxoviridae/diagnóstico , Infecções por Paramyxoviridae/epidemiologia , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Medição de Risco/métodos , Fumar/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Comorbidade , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Índice de Gravidade de DoençaRESUMO
We report a de novo, apparently balanced (2;8)(q35;q21.2) translocation in a boy with developmental delay and autism. Cross species (colour) paint (Rx) and SKY FISH, forward and reverse chromosome painting, and FISH with subtelomeric probes were used to examine the patient's karyotype, but further rearrangements were not detected. FISH with region specific clones mapping near 2q35 and 8q21.2 breakpoints and STS mapping performed on the isolated derivative chromosomes were used to refine the location of the breakpoints further. A cryptic deletion of between 4.23 and 4.41 Mb in extent and involving at least 13 complete genes or transcription units was found at the breakpoint on 2q35. The deletion includes the promoter and 5' untranslated region of the paired box 3 (PAX3) gene. The child has very mild dystopia canthorum which may be associated with the PAX3 haploinsufficiency. The 8q21.2 breakpoint is within MMP16 which encodes matrix metalloproteinase 16. We postulate that the cryptic deletion and rearrangement are responsible for the patient's phenotype and that a gene (or genes) responsible for autism lies at 2q35 or 8q21.2. The results present a step towards identifying genes predisposing to autism.
Assuntos
Transtorno Autístico/genética , Cromossomos Humanos Par 2 , Proteínas de Ligação a DNA/genética , Fatores de Transcrição , Translocação Genética , Criança , Bandeamento Cromossômico , Mapeamento Cromossômico , Coloração Cromossômica , Cromossomos Humanos Par 2/ultraestrutura , Cromossomos Humanos Par 8/ultraestrutura , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Fator de Transcrição PAX3 , Fatores de Transcrição Box Pareados , Deleção de Sequência , TelômeroRESUMO
BACKGROUND: Carbon dioxide (CO2) pneumoperitoneum (PP) increases mean arterial blood pressure (MAP) and systemic vascular resistance (SVR) but decreases stroke volume (SV) and cardiac output (CO). This study evaluated the hemodynamic effects of elevated intraabdominal pressure (IAP) occurring during laparoscopic donor nephrectomy (LDN). METHODS: Twenty-two patients undergoing LDN were investigated and hemodynamic parameters, P(v)CO2) (carbon dioxide partial pressure), and VCO2 (carbon dioxide production) were monitored during the procedure. Before and after PP, IAP was raised from 12 to 20 mmHg and the hemodynamic effects were measured every 30 s. RESULTS: During IAP of 12 mmHg and stable serum CO2, there was no change in SV compared to preinsufflation levels. When IAP was elevated from 12 to 20 mmHg, SV initially decreased (p < 05), followed by an increase in MAP and SVR (p < 0.05). CONCLUSION: This study shows that with the fluid and ventilation protocol used, PP has no significant effect on SV at an IAP of 12 mmHg, whereas increasing IAP to 20 mmHg does. In this study, the hemodynamic effects induced by CO2 PP of 12 mmHg are not due to changes in serum CO2. Compression of the venous system during a PP of 20 mmHg reduces preload, with an subsequent increase in SVR.
Assuntos
Cavidade Abdominal , Dióxido de Carbono/farmacologia , Hemodinâmica , Laparoscopia , Nefrectomia/métodos , Pneumoperitônio Artificial , Pressão , Coleta de Tecidos e Órgãos/métodos , Adulto , Idoso , Pressão Sanguínea/efeitos dos fármacos , Volume Sanguíneo , Dióxido de Carbono/administração & dosagem , Dióxido de Carbono/efeitos adversos , Dióxido de Carbono/sangue , Diurese/efeitos dos fármacos , Feminino , Hemodinâmica/efeitos dos fármacos , Humanos , Insuflação , Complicações Intraoperatórias/etiologia , Complicações Intraoperatórias/prevenção & controle , Masculino , Pessoa de Meia-Idade , Pressão Parcial , Pneumoperitônio Artificial/efeitos adversos , Volume Sistólico/efeitos dos fármacos , Resistência Vascular/efeitos dos fármacosRESUMO
One year after the first outbreak infections with SARS associated coronavirus were again reported and the clinical picture varied. Because health care facilities will have to initiate immediate preventive action in cases of probable SARS we tested the potential of PCR to exclude SARS associated coronavirus in patients hospitalized with respiratory symptoms. Based on primers published recently a real time Taqman PCR was established and evaluated. Lower respiratory tract specimens of patients with acute exacerbation of COPD were investigated. 141 patients with mild to moderate COPD were included. The assay was specific, sensitive, precise and reproducible and allowed absolute quantification without cross-reactivity to other respiratory viruses. None of the samples were positive for SARS associated coronavirus. Our RT-PCR for SARS associated coronavirus is a valid and practicable method to further exclude SARS in X-ray negative patients with respiratory symptoms, even in the presence of other respiratory RNA viruses.
Assuntos
Doença Pulmonar Obstrutiva Crônica/diagnóstico , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Síndrome Respiratória Aguda Grave/diagnóstico , Coronavírus Relacionado à Síndrome Respiratória Aguda Grave/genética , Coronavírus Relacionado à Síndrome Respiratória Aguda Grave/isolamento & purificação , Idoso , Feminino , Humanos , Masculino , Doença Pulmonar Obstrutiva Crônica/etiologia , RNA Viral/genética , RNA Viral/isolamento & purificação , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Síndrome Respiratória Aguda Grave/virologiaRESUMO
Zinc has been shown to effect--in vitro--a number of processes associated with neurotransmission. We have tested whether the rate of impulse conduction--in vivo--as measured from the latencies of auditory brainstem responses (ABR), is influenced by dietary zinc deficiency in the rat. Dietary zinc deficiency for up to 26 wk had no effect on the wave I-IV interval compared to zinc-adequate fed animals. The results are discussed in relation to the observed constancy of brain overall and extracellular fluid zinc concentrations under conditions of dietary zinc deficiency.
Assuntos
Tronco Encefálico/fisiologia , Potenciais Evocados Auditivos , Zinco/deficiência , Animais , Dieta , Eletrofisiologia , Masculino , Ratos , Ratos Endogâmicos , Distribuição Tecidual , Zinco/metabolismoRESUMO
BACKGROUND: Respiratory viruses are important triggers of acute exacerbations of COPD (AE-COPD). However, the inflammatory response in virus-positive exacerbations is still not fully understood. METHODS: We investigated CRP, IL-6, IL-8, IL-10, IFN-gamma, blood and sputum cells in patients with acute exacerbation (n = 36) and in stable disease (n = 20) and correlated these parameters to virus detection in respiratory secretions. RESULTS: Similar to other studies we found a significant increase in systemic CRP and absolute numbers of blood leukocytes in AE-COPD patients. Sputum IL-6 levels and sputum eosinophils tended to be higher during exacerbation. In patients with detection of respiratory viruses in nasal lavage, local IL-6 production in sputum was significantly increased; FEV(1) was significantly decreased and both parameters were inversely correlated to each other. CONCLUSION: This study supports previous findings of both, increased local and systemic inflammation in acute exacerbation of COPD. In virus-associated exacerbations, IL-6 is significantly increased and negatively correlated to FEV1 indicating a relation between virus-induced inflammation and airway obstruction. However, regarding our finding and previous data, it is becoming increasingly clear that the mediators investigated so far do not permit identifying the etiology of AE-COPD. Hence, further studies are needed to better define the inflammatory response in AE-COPD in general and in viral exacerbations in particular.
Assuntos
Doença Pulmonar Obstrutiva Crônica/imunologia , Doença Pulmonar Obstrutiva Crônica/virologia , Doença Aguda , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Citocinas/sangue , Progressão da Doença , Feminino , Hospitalização , Humanos , Mediadores da Inflamação/sangue , Masculino , Pessoa de Meia-Idade , Líquido da Lavagem Nasal/imunologia , Líquido da Lavagem Nasal/virologia , Estudos Prospectivos , Escarro/imunologia , Escarro/virologiaRESUMO
A method is discussed and illustrated which yields a geometric representation of asymmetric proximity matrices. Assuming the observations are metric the data matrix is uniquely decomposed into a symmetric and a skew-symmetric matrix-valued component. The former entails a spatial configuration vis some MDS technique; the formation contained in the latter can then be integrated into this space in various ways.
Assuntos
Estatística como Assunto , Matemática , Psicologia Experimental , Projetos de PesquisaRESUMO
A slightly refined version of Elizur's (1984) 2-facetted theory on the structure of work values is investigated in this study. Two representative samples of West German adults were asked in 1980 and 1982 to rate the importance of various work outcomes. The intercorrelations of the items of each study can be represented with little error in 2-dimensional SSA spaces. Each configuration shows a perfect correspondence to the unordered work-value facet 'modality' and the ordered facet 'performance-system contingency'. Work values that were defined as either affective, cognitive, or instrumental lead to wedge-like regions emanating from an origin, while those that were classified into one of four categories from 'directly contingent on individual performance' to 'almost independent of individual performance, system-contingent' formed concentric bands around this origin. This confirms Elizur's finding of a radex structure. In spite of this structural invariance, Elizur's Israeli samples differ from ours in the distributions of the importance scores attributed to the various work outcomes.
RESUMO
The similarity of multidimensional scaling configurations can be assessed by either correlating over corresponding point coordinates, after Procrustean similarity transformations, or by directly assessing the similarity of corresponding distances. The product-moment correlation is, however, an inadmissible measure in the latter case, and hence the statistical norms reported by Poor and Wherry (1976) are worthless. What can be used is the congruence coefficient. Norms are derived for this coefficient under a wide range of parameters. We thus have two measures of configurational similarity, but even though they are both admissible, it is shown that they are not related in a simple way. Moreover, their statistical evaluation with respect to the question whether two configurations are "significantly similar" is likely to lead to different conclusions. Alternative ways to assess configurational similarity are discussed.
RESUMO
It is first asked how Hofstätter's (1986) personality dimension dyskolos-eukolos could be validated without directly using self-assessments of subjective well-being. It is argued that internal and external locus-of-control beliefs could be tied to this construct. A study with 264 respondents shows that internal beliefs lead to well-being ratings that are higher in every life aspect than those associated with ratings of external beliefs. The effects are only marginally greater for control beliefs directly related to the different life aspects. It is hypothesized that internal control beliefs and high satisfaction are both generated by experiences of behavior that is both successful and causally self-attributed.