RESUMO
This overview reviews the current literature to compare the functional results after surgical and conservative treatment of patients with flail chest and multiple rib fractures. Regarding functional aspects, patients in the early phase after a thoracic trauma are those that benefit most from the stabilisation of the chest wall by internal fixation of the ribs. Patients recover faster from restrictive respiratory disorders, have less pain and return to the workplace earlier after an operation compared with those that receive conservative treatment. In the medium term, however, patients that are treated conservatively also achieve normal pulmonary function values and become free of pain. The period of convalescence after blunt thoracic trauma is generally underestimated. Future studies of the functional outcome after severe chest injuries should take this into account and the development of functional parameters should be monitored for at least 24 months. A prospective data collection of early and long-term surgical results in registries would be suitable to evaluate benefits and indications of chest wall stabilisation.
Assuntos
Tórax Fundido/cirurgia , Fixação Interna de Fraturas/métodos , Fraturas das Costelas/cirurgia , Tratamento Conservador , Convalescença , Seguimentos , Humanos , Avaliação de Processos e Resultados em Cuidados de Saúde , Testes de Função Respiratória , Retorno ao Trabalho , Resultado do Tratamento , Ferimentos não Penetrantes/cirurgiaRESUMO
We investigate the single-photon double ionization of helium at photon energies of 440 and 800 eV. We observe doubly charged ions with close to zero momentum corresponding to electrons emitted back to back with equal energy. These slow ions are the unique fingerprint of an elusive quasifree photon double ionization mechanism predicted by Amusia et al. nearly four decades ago [J. Phys. B 8, 1248 (1975)]. It results from the nondipole part of the electromagnetic interaction. Our experimental data are supported by calculations performed using the convergent close-coupling and time-dependent close-coupling methods.
RESUMO
CHARGE syndrome is an autosomal dominant malformation syndrome caused by mutations in the CHD7 gene. The majority of cases are sporadic and only few familial cases have been reported. In these families, mosaicism in one parent, as well as parent- to-child transmission of a CHD7 mutation, has been described. In some further cases, germline mosaicism has been suggested. Here, we report the first case in which germline mosaicism could be demonstrated in a father of two affected children with CHARGE syndrome. The truncating mutation c.7302dupA in exon 34 of the CHD7 gene was found in both affected children but was not detected in parental lymphocytes. However, in DNA extracted from the father's spermatozoa, the c.7302dupA mutation could be identified. Furthermore, mutation analysis of DNA isolated from 59 single spermatozoa revealed that the c.7302dupA mutation occurs in 16 spermatozoa, confirming germline mosaicism in the father of the affected children. This result has a high impact for genetic counselling of the family and for their recurrence risk in further pregnancies.
Assuntos
Anormalidades Múltiplas/genética , Mutação em Linhagem Germinativa/genética , Mosaicismo , Criança , Pré-Escolar , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Éxons , Feminino , Ligação Genética , Humanos , Masculino , Irmãos , SíndromeRESUMO
The original version of this Article contained an error in the fifth sentence of the first paragraph of the 'Application on H2' section of the Results, which incorrectly read 'The role of electron correlation is quite apparent in this presentation: Fig. 1a is empty for the uncorrelated Hartree-Fock wave function, since projection of the latter wave function onto the 2pσu orbital is exactly zero, while this is not the case for the fully correlated wave function (Fig. 1d); also, Fig. 1b, c for the uncorrelated description are identical, while Fig. 1e, f for the correlated case are significantly different.' The correct version replaces 'Fig. 1e, f' with 'Fig. 2e and f'.
RESUMO
The toolbox for imaging molecules is well-equipped today. Some techniques visualize the geometrical structure, others the electron density or electron orbitals. Molecules are many-body systems for which the correlation between the constituents is decisive and the spatial and the momentum distribution of one electron depends on those of the other electrons and the nuclei. Such correlations have escaped direct observation by imaging techniques so far. Here, we implement an imaging scheme which visualizes correlations between electrons by coincident detection of the reaction fragments after high energy photofragmentation. With this technique, we examine the H2 two-electron wave function in which electron-electron correlation beyond the mean-field level is prominent. We visualize the dependence of the wave function on the internuclear distance. High energy photoelectrons are shown to be a powerful tool for molecular imaging. Our study paves the way for future time resolved correlation imaging at FELs and laser based X-ray sources.
Assuntos
Proteínas de Transporte/genética , Proteínas de Membrana/genética , Erros Inatos do Metabolismo dos Metais/genética , Mutação Puntual , Sequência de Aminoácidos , Feminino , Humanos , Recém-Nascido , Erros Inatos do Metabolismo dos Metais/diagnóstico , Dados de Sequência Molecular , Molibdoferredoxina/genética , Alinhamento de SequênciaRESUMO
Three different variants of the recombinant hybrid outer membrane protein OprF (aa 190-342)-OprI (aa 21-83) could be obtained in high yield after expression in Escherichia coli. The hybrid protein was modified N terminally, either with a minimal histidine tag or with a homologous sequence of OprF. Both recombinant proteins were purified by nickel chelate affinity chromatography under native and denaturing conditions, and this produced three suitable candidates for a vaccination trial, protein His-F-I, which was purified in its native as well as in its refolded form; and the native purified N terminally extended protein, ex-F-I. In mice, significantly higher antibody titers and survival rates after challenge with Pseudomonas aeruginosa were observed following immunization with protein His-F-I, purified under native conditions.
Assuntos
Infecções por Pseudomonas/prevenção & controle , Pseudomonas aeruginosa/imunologia , Vacinas Sintéticas/imunologia , Sequência de Aminoácidos , Animais , Anticorpos Antibacterianos/biossíntese , Cromatografia de Afinidade , Escherichia coli/genética , Imunofluorescência , Glutationa Transferase/genética , Camundongos , Dados de Sequência Molecular , Porinas/química , Porinas/genética , Porinas/isolamento & purificação , Infecções por Pseudomonas/imunologia , Proteínas Recombinantes de Fusão/química , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/isolamento & purificaçãoRESUMO
An epithelioma of the volar face of the right index caused the death of a stomatologist whose skin had been exposed to X-rays for many decades when keeping dental films in place. The casuistics of the clinical picture are dealt with, and arguments are given for its recognition as an occupational disease. The evaluated X-rays dose (the accumulated dose was approx. 2,100 rem, i.e. relatively low) and modern knowledge on radio-medicine are commented with regard to dose-effect relationship.
Assuntos
Carcinoma de Células Escamosas/etiologia , Neoplasias Induzidas por Radiação , Doenças Profissionais , Idoso , Odontólogos , Prova Pericial , Humanos , Masculino , Neoplasias Induzidas por Radiação/mortalidadeRESUMO
A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.
Assuntos
Fibrose Cística/genética , Mutação , Sequência de Aminoácidos , Sequência de Bases , DNA , Análise Mutacional de DNA , Alemanha , Humanos , Recém-Nascido , Masculino , Dados de Sequência MolecularRESUMO
German cystic fibrosis patients were screened for mutations in exon 21 of the cystic fibrosis transmembrane conductance regulator gene by a non-radioactive variation of the single-strand conformation polymorphism technique. Asymmetric polymerase chain reaction amplification was used to produce single strands of exon-containing genomic sequences that were analyzed on polyacrylamide gels subsequently stained with ethidium bromide. This rapid technique led to the identification of a novel mutation, a 1-bp deletion at position 4035(A) of the cDNA sequence. The patient, who is also heterozygous for the delta F508 mutation, exhibits an intermediate form of the disease.
Assuntos
Fibrose Cística/genética , Proteínas de Membrana/genética , Mutação , Sequência de Bases , Criança , Regulador de Condutância Transmembrana em Fibrose Cística , DNA de Cadeia Simples , Éxons , Humanos , Masculino , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Deleção de SequênciaRESUMO
The recent cloning of the cystic fibrosis gene and the simultaneous identification of the predominant mutation enabled direct gene diagnosis in the majority of all CF families. We demonstrate the superiority of now available direct genotyping in five individual cases.
Assuntos
Fibrose Cística/genética , Sondas de DNA , Triagem de Portadores Genéticos , Adulto , Pré-Escolar , Feminino , Marcadores Genéticos , Genótipo , Haplótipos , Humanos , Recém-Nascido , Masculino , Gravidez , Diagnóstico Pré-NatalRESUMO
Among the numerous targets which can be used for the development of vaccines against Pseudomonas aeruginosa we focused on the outer membrane proteins OprF and OprI. The C-terminal part of OprF from aa 190 to aa 350 was investigated for its conservation and its localization of B-cell epitopes. A hybrid protein which combines the protective epitopes of OprF and OprI was expressed in E. coli and was proven to be highly protective against an intraperitoneal challenge with P. aeruginosa by active immunization of immunocompromised mice as well as by passive immunization of SCID mice with specific antisera. A purification procedure of the N-terminal His-tagged hybrid antigen was established using immobilized-metal-affinity chromatography. To evaluate its safety and immunogenicity the recombinant protein was purified for the immunization of human volunteers. The OprF/OprI hybrid protein is considered to be a candidate for a vaccine against P. aeruginosa.
Assuntos
Proteínas da Membrana Bacteriana Externa/imunologia , Vacinas Bacterianas/imunologia , Pseudomonas aeruginosa/imunologia , Proteínas Recombinantes de Fusão/imunologia , Vacinas Sintéticas/imunologia , Animais , Anticorpos Antibacterianos/sangue , Humanos , Camundongos , VacinaçãoRESUMO
A hybrid protein [Met-Ala-(His)6OprF190-342-OprI21-83] consisting of the mature outer membrane protein I (OprI) and amino acids 190 to 342 of OprF of Pseudomonas aeruginosa was expressed in Escherichia coli and purified by Ni2+ chelate-affinity chromatography. After safety and pyrogenicity evaluations in animals, four groups of eight adult human volunteers were vaccinated intramuscularly three times at 4-week intervals and revaccinated 6 months later with either 500, 100, 50, or 20 microg of OprF-OprI adsorbed onto A1(OH)3. All vaccinations were well tolerated. After the first vaccination, a significant rise of antibody titers against P. aeruginosa OprF and OprI was measured in volunteers receiving the 100- or the 500-microg dose. After the second vaccination, significant antibody titers were measured for all groups. Elevated antibody titers against OprF and OprI could still be measured 6 months after the third vaccination. The capacity of the elicited antibodies to promote complement binding and opsonization could be demonstrated by a C1q-binding assay and by the in vitro opsonophagocytic uptake of P. aeruginosa bacteria. These data support the continued development of an OprF-OprI vaccine for use in humans.